[ { "gene": "AAAS", "ensembl_id": "ENSG00000291836", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "aladin WD repeat nucleoporin [Source:HGNC Symbol,Acc:HGNC:13666]", "omim_id": "605378", "functional_summary": "AAAS has localized in flagella.", "localization": "flagella, Centrosome, Nucleus", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291836", "ortholog_mouse": "Aaas", "ortholog_xenopus": "aaas", "ortholog_zebrafish": "aaas", "ortholog_drosophila": "Aladin, CG13137", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.8501, "sd_percent_ciliated": 4.9118, "z_score": -1.1097 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.093, "sd_percent_ciliated": 0.093, "z_score": 0.093 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.3446, "sd_percent_ciliated": -4.3446, "z_score": -4.3446 } ] }, { "gene": "AAMP", "ensembl_id": "ENSG00000127837", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "angio associated migratory cell protein [Source:HGNC Symbol,Acc:HGNC:18]", "omim_id": "603488", "functional_summary": "AAMP has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000127837", "ortholog_mouse": "Aamp", "ortholog_c_elegans": "Y111B2A.12", "ortholog_xenopus": "aamp", "ortholog_zebrafish": "aamp", "ortholog_drosophila": "CG5114", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.2246, "sd_percent_ciliated": 4.1667, "z_score": -0.0951 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.6, "sd_percent_ciliated": 7.6, "z_score": 7.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.763, "sd_percent_ciliated": -6.763, "z_score": -6.763 } ] }, { "gene": "AATF", "ensembl_id": "ENSG00000276072", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "apoptosis antagonizing transcription factor [Source:HGNC Symbol;Acc:HGNC:19235]", "omim_id": "608463", "functional_summary": "Apoptosis Antagonizing Transcription Factor (AATF) localizes to primary cilia, and its depletion results in reduced ciliation of renal epithelial cells.AATF is a regulator of primary cilia and a modulator of the DNA damage response, connecting two pathogenetic mechanisms in nephronophthisis and related ciliopathies(PMID: 30770218).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "3.0770218E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276072", "synonym": "BFR2; CHE-1; CHE1; DED", "ortholog_mouse": "Aatf", "ortholog_c_elegans": "aatf-1", "ortholog_xenopus": "aatf", "ortholog_zebrafish": "aatf", "ortholog_drosophila": "Aatf", "screens": [] }, { "gene": "ABCA13", "ensembl_id": "ENSG00000179869", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP binding cassette subfamily A member 13 [Source:HGNC Symbol,Acc:HGNC:14638]", "omim_id": "607807", "functional_summary": "ABCA13 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00005", "PF12698", "PF23321"], "domain_descriptions": ["ABC transporter-like", "ATP-binding domain", "AAA+ ATPase domain", "ABC-2 type transporter", "transmembrane domain", "ABC transporter A", "P-loop containing nucleoside triphosphate hydrolase", "ABCA1-4-like", "C-terminal R2 regulatory domain"], "string_link": "https://string-db.org/network/9606/ENSG00000179869", "synonym": "FLJ33876, FLJ33951", "ortholog_mouse": "Abca13", "ortholog_c_elegans": "abt-2", "ortholog_drosophila": "ldd", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.3627, "sd_percent_ciliated": 2.3854, "z_score": 0.2851, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.53, "sd_percent_ciliated": 1.53, "z_score": 1.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8545, "sd_percent_ciliated": -0.8545, "z_score": -0.8545, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ABCA4", "ensembl_id": "ENSG00000198691", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP binding cassette subfamily A member 4 [Source:HGNC Symbol,Acc:HGNC:34]", "omim_id": "601691", "functional_summary": "Mutations in the ABCA4 gene cause Cone-Rod Dystrophy and Retinitis Pigmentosa(PMID: 12037008,PMID: 9425888). Comparative analysis between ABCA4-mutant and control ROs revealed distinct morphological alterations. Notably, ABCA4-mutant ROs demonstrated significantly reduced cone populations compared to control ROs (Fig. 2b), while maintaining comparable inner nuclear layer composition as indicated by HSP60 staining. This observation aligns with the previous findings showing opsin inhibition by Stargardt disease byproduct19. Intriguingly, synaptic structures in ABCA4-mutant ROs exhibited punctate appearance (Fig. 2c,d) rather than the classic “horseshoe” morphology observed in controls (Fig. 2e,f), suggesting that ABCA4 mutations substantially impact cone morphology, particularly affecting outer segment and ciliary structural integrity. (40425564)", "localization": "Cytosol, Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "12037008, 9425888, 40425564 ,12037008; 9425888", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000198691", "synonym": "ABCA4,ABCA4,ENSG00000198691, FFM, RMP, ABCR, RP19, STGD, ABC10, ARMD2, CORD3, STGD1", "ciliopathy": "Cone-Rod Dystrophy; Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Abca4", "ortholog_c_elegans": "abt-2", "ortholog_xenopus": "abca4", "ortholog_zebrafish": "abca4a, abca4b", "ortholog_drosophila": "ldd", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.9312, "sd_percent_ciliated": 0.7866, "z_score": 0.8386, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.222, "sd_percent_ciliated": 0.222, "z_score": 0.222, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3973, "sd_percent_ciliated": -3.3973, "z_score": -3.3973, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ABCB6", "ensembl_id": "ENSG00000115657", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP binding cassette subfamily B member 6 (LAN blood group) [Source:HGNC Symbol,Acc:HGNC:47]", "omim_id": "605452", "functional_summary": "ABCB6 has localized in basal body,flagella.", "localization": "basal body,flagella, Mitochondria, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF16185", "PF00664", "PF00005"], "domain_descriptions": ["ABC transporter-like", "ATP-binding domain", "AAA+ ATPase domain", "ABC transporter type 1", "transmembrane domain", "ABC transporter-like", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "ATP-binding cassette sub-family B member 6", "N-terminal five TM domain", "ABC transporter type 1", "transmembrane domain superfamily", "Type 1 protein exporter"], "string_link": "https://string-db.org/network/9606/ENSG00000115657", "synonym": "EST45597, MTABC3, UMAT", "ortholog_mouse": "Abcb6", "ortholog_c_elegans": "hmt-1", "ortholog_xenopus": "abcb6", "ortholog_zebrafish": "abcb6a, abcb6b", "ortholog_drosophila": "Hmt-1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.303, "z_score": 0.567, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 53.8739, "z_score": 1.9221, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.9711 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.19, "z_score": 1.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.19 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -14.0207, "z_score": -14.0207, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -14.0207 } ] }, { "gene": "ABCC3", "ensembl_id": "ENSG00000108846", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP binding cassette subfamily C member 3 [Source:HGNC Symbol,Acc:HGNC:54]", "omim_id": "604323", "functional_summary": "ABCC3 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000108846", "synonym": "CMOAT2, EST90757, MLP2, MOAT-D, MRP3", "ortholog_mouse": "Abcc3", "ortholog_c_elegans": "mrp-1, mrp-2", "ortholog_xenopus": "abcc3", "ortholog_zebrafish": "abcc3", "ortholog_drosophila": "MRP", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.2274, "sd_percent_ciliated": 7.6957, "z_score": 1.1168 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.59, "sd_percent_ciliated": 2.59, "z_score": 2.59 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2546, "sd_percent_ciliated": -0.2546, "z_score": -0.2546 } ] }, { "gene": "ABCC4", "ensembl_id": "ENSG00000125257", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia numbers", "description": "ATP binding cassette subfamily C member 4 (PEL blood group) [Source:HGNC Symbol,Acc:HGNC:55]", "omim_id": "605250", "functional_summary": "Also known as leakytail. ATP- binding cassette transporter which transports prostaglandin E2 and other molecules across cellular membranes. Mutations in ABCC4 cause ciliogenesis defects. ABCC4-mediated PGE2 sig lling acts through a ciliary G-protein-coupled receptor, EP4, to upregulate cAMP synthesis and increase anterograde IFT, thereby promoting ciliogenesis ( 25173977). Zebrafish abcc4 mutants exhibited loss of connecting cilia and outer segment in photoreceptor cells, leading to mislocalization of opsins in the cell bodies of photoreceptors ( 30685088). Specific missense associated with polydactyly in pigs ( 32228435). We observed that depletion of ABCC4 or EP4 in hRPE1 cells caused a reduction of ciliaformation and elongation when compared with use of the control siRNA (Fig. 7a, b, c). Bothcilia length and percentages of ciliated cells were significantly reduced in ABCC4 or EP4 depleted cells (Fig. 7g. h). Addition of exogenous PGE2 increased both cilia length and percentages of ciliated cells in control cells but not in EP4-depleted cells (Fig. 7a, d; g, h), indicating that EP4 acts downstream of PGE2 signaling during ciliogenesis. ( 25173977)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "25173977, 30685088, 32228435", "complex_components": {}, "pfam_ids": ["PF00664", "PF00005"], "domain_descriptions": ["ABC transporter-like", "ATP-binding domain", "AAA+ ATPase domain", "ABC transporter type 1", "transmembrane domain", "ABC transporter-like", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "ATP-binding cassette sub-family C member 4", "six-transmembrane helical domain 1", "ABC transporter type 1", "transmembrane domain superfamily", "ATP-binding cassette sub-family C member 4", "six-transmembrane helical domain 2", "ATP-binding cassette transporter C-like"], "string_link": "https://string-db.org/network/9606/ENSG00000125257", "synonym": "EST170205, MOAT-B, MOATB, MRP4", "ortholog_mouse": "Abcc4", "ortholog_c_elegans": "mrp-6", "ortholog_xenopus": "abcc4", "ortholog_zebrafish": "abcc4", "ortholog_drosophila": "Cftr, CG10505, CG11898, CG31792, CG31793, CG7627, CG9270, l(2)03659, Mrp4, Mrp5, rdog", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.4474, "sd_percent_ciliated": 10.9673, "z_score": -0.3104 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.824, "sd_percent_ciliated": 0.824, "z_score": 0.824 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3023, "sd_percent_ciliated": -3.3023, "z_score": -3.3023 } ] }, { "gene": "ABCD1", "ensembl_id": "ENSG00000101986", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP binding cassette subfamily D member 1 [Source:HGNC Symbol;Acc:HGNC:61]", "omim_id": "300371", "functional_summary": "Strikingly, disruption of additional peroxisomal β-oxidation-related genes, including ABCD1, ACOX1, TYSND1, and HSD17B4, markedly impaired primary ciliogenesis under serum deprivation conditions(40102401).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "4.0102401E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101986", "synonym": "ADRENOLEUKODYSTROPHY; ALD; ALDP; AMN", "ortholog_mouse": "Abcd1, Amn", "ortholog_c_elegans": "amn-1, pmp-4", "ortholog_xenopus": "abcd1, amn", "ortholog_zebrafish": "abcd1, amn", "ortholog_drosophila": "Abcd1, Amnionless", "screens": [] }, { "gene": "ABHD2", "ensembl_id": "ENSG00000140526", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "abhydrolase domain containing 2, acylglycerol lipase [Source:HGNC Symbol,Acc:HGNC:18717]", "omim_id": "612196", "functional_summary": "ABHD2 localized in the flagella of human sperm and found that this enzyme also follows CatSper distribution (30184496).", "localization": "flagella", "functional_category": "Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0184496E7", "complex_components": {}, "pfam_ids": "PF00561", "domain_descriptions": ["Alpha/beta hydrolase fold-1", "AB hydrolase 4", "conserved site", "AB hydrolase 4 family", "Alpha/Beta hydrolase fold", "AB hydrolase superfamily", "subfamily 4"], "string_link": "https://string-db.org/network/9606/ENSG00000140526", "synonym": "LABH2", "ortholog_mouse": "Abhd2", "ortholog_xenopus": "abhd2", "ortholog_zebrafish": "abhd2a, abhd2b", "ortholog_drosophila": "Hydr2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.5342, "z_score": 0.9515, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.7372, "z_score": 2.5113, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 11.7154 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.94, "z_score": 0.94, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.94 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6026, "z_score": 0.6026, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.6026 } ] }, { "gene": "ABI2", "ensembl_id": "ENSG00000138443", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "abl interactor 2 [Source:HGNC Symbol,Acc:HGNC:24011]", "omim_id": "606442", "functional_summary": "The Abi2 KO mice had small testes, which on histopathology showed testicular degeneration, marked, chronic, bilateral, multifocal vacuolation of the seminiferous tubular epithelium with hypocellularity, sparse spermatids, and very few spermatozoa tubular lumens, suggesting a failure in the maturation of sperm and subsequent immune-mediated degradation of the sperm leading to testicular atrophy. KO of Abi2 shows both eye and male reproductive abnormalities consistent with ciliopathies ( 36456625).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6456625E7", "complex_components": ["ABI2", "C22H3ORF10", "CYFIP1", "NCKAP1", "WASF1"], "pfam_ids": ["PF07815", "PF00018"], "domain_descriptions": ["Target SNARE coiled-coil homology domain", "SH3 domain", "Abl-interactor", "homeo-domain homologous domain", "ABI family", "Abl interactor 2", "SH3 domain", "SH3-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000138443", "synonym": "ABI-2, ABI2B, ABLBP3, AIP-1, ARGBPIA, SSH3BP2", "ortholog_mouse": "Abi2", "ortholog_c_elegans": "abi-1", "ortholog_xenopus": "abi2", "ortholog_zebrafish": "abi2a, abi2b", "ortholog_drosophila": "Abi", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.1551, "sd_percent_ciliated": 4.6751, "z_score": -1.315 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.7835, "sd_percent_ciliated": -3.7835, "z_score": -3.7835 } ] }, { "gene": "ABITRAM", "ensembl_id": "ENSG00000119328", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin binding transcription modulator [Source:HGNC Symbol,Acc:HGNC:1364]", "omim_id": "620392", "functional_summary": "Actin binding transcription modulator ABITRAM was observed in individual cilia of ASC52telo and hTERT-RPE1.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF01597", "domain_descriptions": ["Single hybrid motif", "Glycine cleavage system H-protein/Simiate", "Protein Abitram"], "string_link": "https://string-db.org/network/9606/ENSG00000119328", "synonym": "C9ORF6, CG-8, FAM206A, FLJ20457, SIMIATE", "ortholog_mouse": "Abitram", "ortholog_c_elegans": "F54F2.7", "ortholog_xenopus": "abitram", "ortholog_zebrafish": "abitram", "ortholog_drosophila": "CG9288", "screens": {} }, { "gene": "ABLIM1", "ensembl_id": "ENSG00000099204", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin binding LIM protein 1 [Source:HGNC Symbol,Acc:HGNC:78]", "omim_id": "602330", "functional_summary": "ABLIM1 localized to flagella(25613900).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation", "reference": "25613900 ,22684256", "complex_components": {}, "pfam_ids": ["PF02209", "PF00412", "PF16182"], "domain_descriptions": ["Zinc finger", "LIM-type", "Villin headpiece", "Putative adherens-junction anchoring domain", "Villin headpiece domain superfamily", "Actin-binding LIM"], "string_link": "https://string-db.org/network/9606/ENSG00000099204", "synonym": "ABLIM, LIMAB1, LIMATIN", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ablim1", "ortholog_c_elegans": "unc-115", "ortholog_xenopus": "ablim1", "ortholog_zebrafish": "ablim1a, ablim1b", "ortholog_drosophila": "Unc-115a, Unc-115b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.2592, "sd_percent_ciliated": 10.4488, "z_score": -0.4543 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.3, "sd_percent_ciliated": 1.3, "z_score": 1.3 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3843, "sd_percent_ciliated": -1.3843, "z_score": -1.3843 } ] }, { "gene": "ABLIM3", "ensembl_id": "ENSG00000173210", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin binding LIM protein family member 3 [Source:HGNC Symbol,Acc:HGNC:29132]", "omim_id": "611305", "functional_summary": "Involved in ciliation-related actin dy mics and LR patterning (22684256)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "22684256 ,22684256", "complex_components": {}, "pfam_ids": ["PF02209", "PF00412", "PF16182"], "domain_descriptions": ["Zinc finger", "LIM-type", "Villin headpiece", "Putative adherens-junction anchoring domain", "Villin headpiece domain superfamily", "Actin-binding LIM"], "string_link": "https://string-db.org/network/9606/ENSG00000173210", "synonym": "KIAA0843", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ablim3", "ortholog_c_elegans": "unc-115", "ortholog_xenopus": "ablim3", "ortholog_zebrafish": "ablim3", "ortholog_drosophila": "Unc-115a, Unc-115b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.1862, "sd_percent_ciliated": 2.3362, "z_score": -0.4632, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.21, "sd_percent_ciliated": 1.21, "z_score": 1.21, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.56, "sd_percent_ciliated": 0.56, "z_score": 0.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ABRAXAS2", "ensembl_id": "ENSG00000165660", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "abraxas 2, BRISC complex subunit [Source:HGNC Symbol,Acc:HGNC:28975]", "omim_id": "611144", "functional_summary": "ABRAXAS2 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ABRAXAS2", "SHMT1", "SHMT2", "BABAM1", "BABAM2", "BRCC3"], "pfam_ids": "PF21125", "domain_descriptions": ["FAM175 family", "BRISC complex", "Abraxas 2 subunit", "MPN domain", "BRISC complex", "Abraxas 1 subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000165660", "synonym": "ABRO1, EM:AC068896.4, FAM175B, KIAA0157", "ortholog_mouse": "Abraxas2", "ortholog_xenopus": "abraxas2", "ortholog_zebrafish": "abraxas2", "screens": {} }, { "gene": "ACAA2", "ensembl_id": "ENSG00000167315", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "acetyl-CoA acyltransferase 2 [Source:HGNC Symbol,Acc:HGNC:83]", "omim_id": "604770", "functional_summary": "ACAA2 has localized in basal body.", "localization": "basal body, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF02803", "PF00108"], "domain_descriptions": ["Thiolase", "Thiolase-like", "Thiolase", "active site", "Thiolase", "conserved site", "Thiolase", "acyl-enzyme intermediate active site", "Thiolase", "N-terminal", "Thiolase", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000167315", "synonym": "DSAEC", "ortholog_mouse": "Acaa2", "ortholog_c_elegans": "acaa-2", "ortholog_xenopus": "acaa2", "ortholog_zebrafish": "acaa2", "ortholog_drosophila": "Acaa", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.5161, "sd_percent_ciliated": 2.3777, "z_score": -0.1809, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.19, "sd_percent_ciliated": 1.19, "z_score": 1.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2419, "sd_percent_ciliated": -3.2419, "z_score": -3.2419, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACACA", "ensembl_id": "ENSG00000278540", "overexpression_effects": "Reduced cilia numbers", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "acetyl-CoA carboxylase alpha [Source:HGNC Symbol;Acc:HGNC:84]", "omim_id": "613933", "functional_summary": "In the second experiment, we transfected MDCK cells with expression constructs encoding FASN and acetyl-CoA carboxylase, which are the two downstream targets of nSREBP1c that catalyze fatty acid synthesis. Expression of FASN- and acetyl-CoA carboxylase significantly reduced the percentage of ciliated cells from 79% for control cells to 27% for FASN- and acetyl-CoA carboxylase–transfected cells (20889723)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "2.0889723E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000278540", "synonym": "ACAC, ACAC1, ACACALPHA, ACC, ACC-ALPHA, ACC1, ACCA, ACCALPHA, HACC1", "ortholog_mouse": "Acaca", "ortholog_c_elegans": "pod-2, T28F3.5", "ortholog_xenopus": "acaca", "ortholog_zebrafish": "acaca", "ortholog_drosophila": "Acc", "screens": [] }, { "gene": "ACE2", "ensembl_id": "ENSG00000130234", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "angiotensin converting enzyme 2 [Source:HGNC Symbol,Acc:HGNC:13557]", "omim_id": "300335", "functional_summary": "ACE2 receptor protein robustly localizes within the membrane of the motile cilia of airway epithelial cells, which likely represents the initial or early subcellular site of SARS-CoV-2 viral entry during host respiratory transmission.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "3.3116139E7", "complex_components": ["ACE2", "TMPRSS2", "SLC6A19", "AGTR1"], "pfam_ids": ["PF16959", "PF01401"], "domain_descriptions": ["Peptidase M2", "peptidyl-dipeptidase A", "Collectrin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000130234", "synonym": "ACEH", "ortholog_mouse": "Ace2", "ortholog_c_elegans": "acn-1", "ortholog_xenopus": "ace2", "ortholog_zebrafish": "ace2", "ortholog_drosophila": "Acer, Ance-3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.5161, "sd_percent_ciliated": 0.9181, "z_score": 0.4249, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0264, "sd_percent_ciliated": 0.0264, "z_score": 0.0264, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3579, "sd_percent_ciliated": -1.3579, "z_score": -1.3579, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACLY", "ensembl_id": "ENSG00000131473", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP citrate lyase [Source:HGNC Symbol,Acc:HGNC:115]", "omim_id": "108728", "functional_summary": "ACLY has localized in primary cilia, basal body.", "localization": "cilia, basal body, Cytosol, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": "ACLY", "pfam_ids": ["PF00285", "PF02629", "PF16114", "PF00549", "PF24948"], "domain_descriptions": ["Citrate synthase", "CoA-binding", "ATP-citrate synthase/succinyl-CoA ligase", "C-terminal domain", "ATP-citrate synthase", "Succinyl-CoA synthetase-like", "Citrate synthase-like", "small alpha subdomain", "ATP-citrate lyase/succinyl-CoA ligase", "active site", "Succinyl-CoA synthetase", "beta subunit", "conserved site", "ATP-citrate synthase", "citrate-binding domain", "ATP-citrate lyase/succinyl-CoA ligase", "conserved site", "NAD(P)-binding domain superfamily", "Citrate synthase superfamily", "ATP-citrate synthase", "ATP-grasp domain", "Citrate synthase-like", "large alpha subdomain"], "string_link": "https://string-db.org/network/9606/ENSG00000131473", "synonym": "ACL, ATPCL, CLATP", "ortholog_mouse": "Acly", "ortholog_c_elegans": "acly-1, acly-2", "ortholog_xenopus": "acly", "ortholog_zebrafish": "aclya, aclyb", "ortholog_drosophila": "Acly", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.6029, "sd_percent_ciliated": 4.315, "z_score": 0.1931, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.21, "sd_percent_ciliated": 5.21, "z_score": 5.21, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.2392, "sd_percent_ciliated": -9.2392, "z_score": -9.2392, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACOT13", "ensembl_id": "ENSG00000112304", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "acyl-CoA thioesterase 13 [Source:HGNC Symbol,Acc:HGNC:20999]", "omim_id": "615652", "functional_summary": "Through integrating PPI and gene expression analyses, acyl-CoA thioesterase 13 (ACOT13), which has not been reported to be related to autosomal dominant polycystic kidney disease (ADPKD), and prostaglandin E receptor 2 (PTGER2) were identified as potential genes associated with ADPKD(PMID: 34886911).", "localization": "Ciliary associated gene, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "34886911 ,34886911", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000112304", "synonym": "HT012, THEM2", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Acot13", "ortholog_c_elegans": "C25H3.14, C25H3.3, F42H10.6", "ortholog_xenopus": "acot13", "ortholog_zebrafish": "acot13", "ortholog_drosophila": "CG16985, CG16986", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.214, "sd_percent_ciliated": 0.214, "z_score": 0.214, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4239, "sd_percent_ciliated": -1.4239, "z_score": -1.4239, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACOT7", "ensembl_id": "ENSG00000097021", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "acyl-CoA thioesterase 7 [Source:HGNC Symbol;Acc:HGNC:24157]", "omim_id": "602587", "functional_summary": "Presence of primary cilia is also validated using immunofluorescence in the stroma and muscle cells of the mouse colon, using known markers of the primary cilia. Acot7 is identified as a primary cilium associated marker and found to be expressed in myenteric ganglia().", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development", "reference": "https://repository.bilkent.edu.tr/items/29389ab0-1183-458c-8ec5-ed2df8198156", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000097021", "synonym": "ACH1; ACT; BACH; CTE-II; HBACH; LACH1; MGC1126", "ortholog_mouse": "Acot7", "ortholog_xenopus": "acot7", "ortholog_zebrafish": "acot7", "screens": [] }, { "gene": "ACOX1", "ensembl_id": "ENSG00000161533", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "acyl-CoA oxidase 1 [Source:HGNC Symbol;Acc:HGNC:119]", "omim_id": "609751", "functional_summary": "Disruption of additional peroxisomal β-oxidation-related genes, including ABCD1, ACOX1, TYSND1, and HSD17B4, markedly impaired primary ciliogenesis under serum deprivation conditions(40102401).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0102401E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000161533", "synonym": "PALMCOX", "ortholog_mouse": "Acox1", "ortholog_c_elegans": "acox-1.1, acox-1.2, acox-1.3, acox-1.4, acox-1.5, acox-1.6", "ortholog_xenopus": "acox1", "ortholog_zebrafish": "acox1", "ortholog_drosophila": "Acox1, Acox57D-d, Acox57D-p, CG4586", "screens": [] }, { "gene": "ACP5", "ensembl_id": "ENSG00000102575", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "acid phosphatase 5, tartrate resistant [Source:HGNC Symbol,Acc:HGNC:124]", "functional_summary": "Mutations in the ACP5 gene cause Spondylometaphyseal Dysplasia (PMID: 26854080, 21217752).", "localization": "Ciliary associated gene, Cytosol, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "26854080, 21217752 ,26854080, 21217752", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000102575", "synonym": "HPAP, TRACP, TRAP", "ciliopathy": "Spondylometaphyseal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Acp5", "ortholog_c_elegans": "F02E9.7", "ortholog_xenopus": "acp5", "ortholog_zebrafish": "acp5a, acp5b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.4814, "sd_percent_ciliated": 6.8198, "z_score": 0.1784 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.285, "sd_percent_ciliated": 0.285, "z_score": 0.285 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8137, "sd_percent_ciliated": -0.8137, "z_score": -0.8137 } ] }, { "gene": "ACTN1", "ensembl_id": "ENSG00000072110", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actinin alpha 1 [Source:HGNC Symbol,Acc:HGNC:163]", "omim_id": "102575", "functional_summary": "ACTN1 has localized in transition zone, primary cilia.", "localization": "transition zone, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cardiac & muscle development, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ACTN1", "PARVB", "BCAR1", "CDH1", "CTNNB1", "JUP", "PKD1", "PTK2", "PXN", "SRC", "TLN1", "VCL", "ADORA2B", "HDAC7"], "pfam_ids": ["PF00435", "PF13405", "PF00307", "PF08726", "PF13833"], "domain_descriptions": ["Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "Spectrin repeat", "EF-hand domain", "EF-hand domain pair", "EF-hand", "Ca insensitive", "Spectrin/alpha-actinin", "EF-Hand 1", "calcium-binding site", "CH domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000072110", "ortholog_mouse": "Actn1", "ortholog_c_elegans": "atn-1", "ortholog_xenopus": "actn1", "ortholog_zebrafish": "actn1", "ortholog_drosophila": "Actn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.4245, "sd_percent_ciliated": 4.6045, "z_score": 0.8984 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3482, "sd_percent_ciliated": -2.3482, "z_score": -2.3482 } ] }, { "gene": "ACTN2", "ensembl_id": "ENSG00000077522", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actinin alpha 2 [Source:HGNC Symbol,Acc:HGNC:164]", "omim_id": "102573", "functional_summary": "ACTN2 has localized in transition zone, primary cilia.", "localization": "transition zone, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ABL1", "ACTN2"], "pfam_ids": ["PF00307", "PF13499", "PF08726", "PF00435"], "domain_descriptions": ["Calponin homology domain", "CH domain superfamily", "Actinin-type actin-binding domain", "conserved site", "Spectrin repeat", "EF-hand domain", "EF-hand domain pair", "EF-hand", "Ca insensitive", "Spectrin/alpha-actinin"], "string_link": "https://string-db.org/network/9606/ENSG00000077522", "ortholog_mouse": "Actn2", "ortholog_c_elegans": "atn-1", "ortholog_xenopus": "actn2", "ortholog_zebrafish": "actn2a, actn2b", "ortholog_drosophila": "Actn", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.6737, "sd_percent_ciliated": 4.8526, "z_score": 1.1709, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.79, "sd_percent_ciliated": 0.79, "z_score": 0.79, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1831, "sd_percent_ciliated": -4.1831, "z_score": -4.1831, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACTN3", "ensembl_id": "ENSG00000248746", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actinin alpha 3 [Source:HGNC Symbol,Acc:HGNC:165]", "omim_id": "102574", "functional_summary": "ACTN3 has localized in transition zone, primary cilia.", "localization": "transition zone, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00435", "PF08726", "PF00307"], "domain_descriptions": ["Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "Spectrin repeat", "EF-hand domain", "EF-hand domain pair", "EF-hand", "Ca insensitive", "Spectrin/alpha-actinin", "CH domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000248746", "ortholog_mouse": "Actn3", "ortholog_c_elegans": "atn-1", "ortholog_xenopus": "actn3", "ortholog_zebrafish": "actn3a, actn3b", "ortholog_drosophila": "Actn", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.6109, "sd_percent_ciliated": 1.9865, "z_score": 0.4364, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.83, "sd_percent_ciliated": 0.83, "z_score": 0.83, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.341, "sd_percent_ciliated": -1.341, "z_score": -1.341, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACTN4", "ensembl_id": "ENSG00000282844", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actinin alpha 4 [Source:HGNC Symbol,Acc:HGNC:166]", "omim_id": "604638", "functional_summary": "ACTN4 has localized in transition zone, primary cilia.", "localization": "transition zone, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ACTB", "ACTN4", "HSP90AB1", "HSPA1A", "HSPA8", "ITGB2", "LAMA3", "MPP3", "P2RX7", "PI4KA", "PTPRB", "SVIL", "CAMK2A", "LRRC7", "HGS", "MYO5B", "TRIM3", "NHERF2", "SLC9A3", "NHERF1", "PPARG", "RARA", "VDR", "ESR1", "HDAC7", "HDAC4", "HDAC5"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000282844", "synonym": "FSGS1", "ortholog_mouse": "Actn4", "ortholog_c_elegans": "atn-1", "ortholog_xenopus": "actn4", "ortholog_zebrafish": "actn4", "ortholog_drosophila": "Actn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.9914, "sd_percent_ciliated": 6.1193, "z_score": -0.7291 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.83, "sd_percent_ciliated": 6.83, "z_score": 6.83 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.2217, "sd_percent_ciliated": -7.2217, "z_score": -7.2217 } ] }, { "gene": "ACTR10", "ensembl_id": "ENSG00000131966", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin related protein 10 [Source:HGNC Symbol,Acc:HGNC:17372]", "omim_id": "619731", "functional_summary": "ACTR10 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["ACTB", "ACTR10", "ACTR1A", "ACTR1B", "CAPZA1", "CAPZA2", "CAPZB", "DCTN1", "DCTN2", "DCTN3", "DCTN4", "DCTN5", "DCTN6"], "pfam_ids": "PF00022", "domain_descriptions": ["Actin family", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000131966", "synonym": "ACTR11, ARP10, ARP11, HARP11", "ortholog_mouse": "Actr10", "ortholog_c_elegans": "arp-11", "ortholog_xenopus": "actr10", "ortholog_zebrafish": "actr10", "ortholog_drosophila": "Arp10", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.2981, "sd_percent_ciliated": 3.1293, "z_score": 0.6408 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 12, "sd_percent_ciliated": 12, "z_score": 12 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 3.3955, "sd_percent_ciliated": 3.3955, "z_score": 3.3955 } ] }, { "gene": "ACTR1A", "ensembl_id": "ENSG00000138107", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin related protein 1A [Source:HGNC Symbol,Acc:HGNC:167]", "omim_id": "605143", "functional_summary": "ACTR1A has localized in primary cilia.", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,30257893 *", "complex_components": ["ACTR1A", "CAPZA1", "CAPZB", "DCTN1", "DCTN2", "DCTN3", "DCTN4", "DCTN6", "ACTB", "ACTR10", "ACTR1B", "CAPZA2", "DCTN5"], "pfam_ids": "PF00022", "domain_descriptions": ["Actin family", "Actin", "conserved site", "Actin/actin-like conserved site", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138107", "synonym": "ARP1, ARP1A", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Actr1a", "ortholog_c_elegans": "arp-1", "ortholog_xenopus": "actr1a", "ortholog_zebrafish": "actr1b", "ortholog_drosophila": "Arp1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.1481, "z_score": 0.5187, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.9297, "z_score": 1.2019, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.6747 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.5, "z_score": 0.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.5 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0293, "z_score": -0.0293, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.0293 } ] }, { "gene": "ACTR1B", "ensembl_id": "ENSG00000115073", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin related protein 1B [Source:HGNC Symbol,Acc:HGNC:168]", "omim_id": "605144", "functional_summary": "ACTR1B has localized in primary cilia.", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ACTB", "ACTR10", "ACTR1A", "ACTR1B", "CAPZA1", "CAPZA2", "CAPZB", "DCTN1", "DCTN2", "DCTN3", "DCTN4", "DCTN5", "DCTN6"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000115073", "synonym": "ARP1B, CTRN2", "ortholog_mouse": "Actr1b", "ortholog_c_elegans": "arp-1", "ortholog_zebrafish": "actr1b", "ortholog_drosophila": "Arp1", "screens": {} }, { "gene": "ACTR2", "ensembl_id": "ENSG00000138071", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "actin related protein 2 [Source:HGNC Symbol,Acc:HGNC:169]", "omim_id": "604221", "functional_summary": "ACE2 receptor protein robustly localizes within the membrane of the motile cilia of airway epithelial cells, which likely represents the initial or early subcellular site of SARS-CoV-2 viral entry during host respiratory transmission (33116139).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "33116139 ,20393563", "complex_components": ["ACTR2", "ACTR3", "ARPC1B", "ARPC2", "ARPC3", "ARPC4", "ARPC5"], "pfam_ids": "PF00022", "domain_descriptions": ["Actin family", "Actin/actin-like conserved site", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138071", "synonym": "ARP2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Actr2", "ortholog_c_elegans": "arx-2", "ortholog_xenopus": "actr2", "ortholog_zebrafish": "actr2a, actr2b, zgc:101810", "ortholog_drosophila": "Arp2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.1162, "sd_percent_ciliated": 6.341, "z_score": -0.5928 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.117, "sd_percent_ciliated": 0.117, "z_score": 0.117 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.1455, "sd_percent_ciliated": -3.1455, "z_score": -3.1455 } ] }, { "gene": "ACTR3", "ensembl_id": "ENSG00000115091", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "actin related protein 3 [Source:HGNC Symbol,Acc:HGNC:170]", "omim_id": "604222", "functional_summary": "ACTR3 is necessary for nucleating actin polymerization at filament branches, caused a significant increase in cilium length and also facilitated ciliogenesis independently of serum starvation (20393563). Arp3 of the Arp2/3 complex and actin nucleator N-WASp localized to the basal body at the base of the primary cilium in mDCs (29945904)", "localization": "basal body,cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "20393563 , 29945904 ,20393563", "complex_components": ["ACTR2", "ACTR3", "ARPC1B", "ARPC2", "ARPC3", "ARPC4", "ARPC5", "WHAMM"], "pfam_ids": "PF00022", "domain_descriptions": ["Actin family", "Actin/actin-like conserved site", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000115091", "synonym": "ARP3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Actr3", "ortholog_c_elegans": "arx-1", "ortholog_xenopus": "actr3", "ortholog_zebrafish": "actr3", "ortholog_drosophila": "Arp3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.2479, "sd_percent_ciliated": 18.1068, "z_score": 1.3616 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.21, "sd_percent_ciliated": 9.21, "z_score": 9.21 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3058, "sd_percent_ciliated": 0.3058, "z_score": 0.3058 } ] }, { "gene": "ACTRT1", "ensembl_id": "ENSG00000123165", "overexpression_effects": "Shorter cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "actin related protein T1 [Source:HGNC Symbol,Acc:HGNC:24027]", "omim_id": "300487", "functional_summary": "Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 participates in the regulation of cilia length and that ARP-T1-associated BDCS is a case of skin cancer with ciliopathy characteristics.Overexpression of mutant ACTRT1 (547_548insA) reduced ciliary length by ~25%.Knockdown of ACTRT1 by shRNAs reduced ciliary length by ~25–50% depending on cell line and shRNA(33972689).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cilia length regulation", "reference": "33972689 ,33972689", "complex_components": {}, "pfam_ids": "PF00022", "domain_descriptions": ["Actin family", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000123165", "synonym": "AIP1, ARIP1, ARP-T1, KIAA0705", "ciliopathy": "Bazex-Dupré-Christol Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Actrt1", "ortholog_xenopus": "actrt2", "ortholog_drosophila": "Arp53D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.3571, "sd_percent_ciliated": 7.8054, "z_score": 0.6479 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.131, "sd_percent_ciliated": 0.131, "z_score": 0.131 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.594, "sd_percent_ciliated": -4.594, "z_score": -4.594 } ] }, { "gene": "ACVR1", "ensembl_id": "ENSG00000115170", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "activin A receptor type 1 [Source:HGNC Symbol;Acc:HGNC:171]", "omim_id": "102576", "functional_summary": "These results indicate that BMP signaling through ACVR1 is required for appropriate formation of nodal cilia(21831921).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.1831921E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000115170", "synonym": "ACVR1A; ACVRLK2; ALK2; SKR1", "ortholog_mouse": "Acvr1", "ortholog_c_elegans": "sma-6", "ortholog_xenopus": "acvr1", "ortholog_zebrafish": "acvr1l", "ortholog_drosophila": "sax", "screens": [] }, { "gene": "ACVR1B", "ensembl_id": "ENSG00000135503", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "activin A receptor type 1B [Source:HGNC Symbol,Acc:HGNC:172]", "omim_id": "601300", "functional_summary": "ACVR1B has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ACVR1B", "ACVR2B", "MSTN", "GDF11", "FKBP1A", "SMAD7", "SMURF1"], "pfam_ids": ["PF08515", "PF01064", "PF00069", "PF07714"], "domain_descriptions": ["Ser/Thr protein kinase", "TGFB receptor", "Activin types I and II receptor domain", "Protein kinase domain", "GS domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Snake toxin-like superfamily", "Serine-threonine/tyrosine-protein kinase", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000135503", "synonym": "ACTRIB, ACVRLK4, ALK4, SKR2", "ortholog_mouse": "Acvr1b", "ortholog_c_elegans": "daf-1, sma-6", "ortholog_xenopus": "acvr1b", "ortholog_zebrafish": "acvr1ba, acvr1bb", "ortholog_drosophila": "babo", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.8737, "sd_percent_ciliated": 3.3696, "z_score": -0.0164, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 27.8, "sd_percent_ciliated": 27.8, "z_score": 27.8, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5428, "sd_percent_ciliated": -3.5428, "z_score": -3.5428, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ACVR2B", "ensembl_id": "ENSG00000114739", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "activin A receptor type 2B [Source:HGNC Symbol,Acc:HGNC:174]", "omim_id": "602730", "functional_summary": "Mutations in the ACVR2B gene cause Visceral Heterotaxy (PMID: 9916847).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "9916847.0", "complex_components": ["ACVR1B", "ACVR2B", "MSTN", "TGFBR1", "GDF11", "ACVR1C", "ACVR1", "INHBA"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000114739", "synonym": "ACTR-IIB", "ortholog_mouse": "Acvr2b", "ortholog_c_elegans": "daf-4", "ortholog_xenopus": "acvr2b", "ortholog_zebrafish": "acvr2ba", "ortholog_drosophila": "put", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 53.9644, "sd_percent_ciliated": 5.6065, "z_score": 1.9331 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.4838, "sd_percent_ciliated": -4.4838, "z_score": -4.4838 } ] }, { "gene": "ADAM17", "ensembl_id": "ENSG00000151694", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADAM metallopeptidase domain 17 [Source:HGNC Symbol,Acc:HGNC:195]", "omim_id": "603639", "functional_summary": "Also known as tumor necrosis factor (TNF)-α-converting enzyme (TACE). Metalloprotease, cleaves Notch receptor when glycosylated by GALNT11 to control formation of motile and non-motile cilia at the node. Heterotaxy gene (24226769). Cleaves ACE2, found in respiratory cilia membrane (15983030)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "24226769, 15983030", "complex_components": ["ADAM17", "GPR50"], "pfam_ids": ["PF16698", "PF00200", "PF13688", "PF13574"], "domain_descriptions": ["Peptidase M12B", "ADAM/reprolysin", "Disintegrin domain", "Metallopeptidase", "catalytic domain superfamily", "ADAM17", "membrane-proximal domain", "ADAM10/ADAM17 catalytic domain", "Disintegrin domain superfamily", "Disintegrin and Metalloproteinase Domain-Containing"], "string_link": "https://string-db.org/network/9606/ENSG00000151694", "synonym": "CD156B, CSVP, TACE", "ortholog_mouse": "Adam17", "ortholog_c_elegans": "adm-4", "ortholog_xenopus": "adam17", "ortholog_zebrafish": "adam17a, adam17b", "ortholog_drosophila": "Tace", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.6062, "sd_percent_ciliated": 6.315, "z_score": 0.7993 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.86, "sd_percent_ciliated": 4.86, "z_score": 4.86 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1102, "sd_percent_ciliated": -2.1102, "z_score": -2.1102 } ] }, { "gene": "ADAM22", "ensembl_id": "ENSG00000008277", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADAM metallopeptidase domain 22 [Source:HGNC Symbol,Acc:HGNC:201]", "omim_id": "603709", "functional_summary": "Two disintegrin and metalloprotei se domain-containing proteins, ADAM9 and ADAM22, localized in cilia membranes(24748648).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "2.4748648E7", "complex_components": ["ADAM22", "LGI1"], "pfam_ids": ["PF00200", "PF01421", "PF07974", "PF08516", "PF01562"], "domain_descriptions": ["EGF-like domain", "Peptidase M12B", "ADAM/reprolysin", "Disintegrin domain", "Peptidase M12B", "propeptide", "ADAM", "cysteine-rich domain", "EGF-like domain", "extracellular", "Disintegrin", "conserved site", "Metallopeptidase", "catalytic domain superfamily", "Reprolysin domain", "adamalysin-type", "Disintegrin domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000008277", "synonym": "MDC2", "ortholog_mouse": "Adam22", "ortholog_c_elegans": "unc-71", "ortholog_xenopus": "adam22", "ortholog_zebrafish": "adam22", "ortholog_drosophila": "mmd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.2641, "sd_percent_ciliated": 0.9122, "z_score": 0.0309 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4744, "sd_percent_ciliated": -3.4744, "z_score": -3.4744 } ] }, { "gene": "ADAM30", "ensembl_id": "ENSG00000134249", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADAM metallopeptidase domain 30 [Source:HGNC Symbol,Acc:HGNC:208]", "omim_id": "604779", "functional_summary": "ADAM30 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF01421", "PF08516", "PF01562", "PF00200"], "domain_descriptions": ["EGF-like domain", "Peptidase M12B", "ADAM/reprolysin", "Disintegrin domain", "Peptidase M12B", "propeptide", "ADAM", "cysteine-rich domain", "Disintegrin", "conserved site", "Metallopeptidase", "catalytic domain superfamily", "Reprolysin domain", "adamalysin-type", "Disintegrin domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000134249", "synonym": "SVPH4", "ortholog_mouse": "Adam30", "ortholog_c_elegans": "adm-2", "ortholog_xenopus": "LOC100493925", "ortholog_drosophila": "Meltrin", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.7831, "sd_percent_ciliated": 5.9636, "z_score": 0.9419 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.512, "sd_percent_ciliated": 0.512, "z_score": 0.512 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.9515, "sd_percent_ciliated": -4.9515, "z_score": -4.9515 } ] }, { "gene": "ADAM32", "ensembl_id": "ENSG00000275594", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADAM metallopeptidase domain 32 [Source:HGNC Symbol,Acc:HGNC:15479]", "omim_id": "618602", "functional_summary": "ADAM32 has localized in flagella.", "localization": "flagella, Lysosomes", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000275594", "ortholog_mouse": "Adam32", "ortholog_c_elegans": "unc-71", "ortholog_drosophila": "Meltrin", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.0247, "sd_percent_ciliated": 7.8355, "z_score": 0.123, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5459, "sd_percent_ciliated": -1.5459, "z_score": -1.5459, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADAM9", "ensembl_id": "ENSG00000282230", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADAM metallopeptidase domain 9 [Source:HGNC Symbol,Acc:HGNC:216]", "omim_id": "602713", "functional_summary": "Two disintegrin and metalloprotei se domain-containing proteins, ADAM9 and ADAM22, localized in cilia membranes(24748648).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "24748648, 19409519 ,19409519", "complex_components": ["ADAM9", "ITGAV", "ITGB5", "ITGA9", "ITGB1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000282230", "synonym": "CORD9, KIAA0021, MCMP, MDC9, MLTNG", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Adam9", "ortholog_c_elegans": "adm-2", "ortholog_xenopus": "adam9", "ortholog_zebrafish": "adam9a, adam9b", "ortholog_drosophila": "Meltrin", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.8416, "z_score": 1.0474, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 67.4491, "z_score": 3.5668, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 12.4522 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.16, "z_score": 1.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.16 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6189, "z_score": -0.6189, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.6189 } ] }, { "gene": "ADAMTS19", "ensembl_id": "ENSG00000145808", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADAM metallopeptidase with thrombospondin type 1 motif 19 [Source:HGNC Symbol;Acc:HGNC:17111]", "omim_id": "607513", "functional_summary": "Although ADAMTS9 is known to be a secreted extracellular metalloproteinase, we found that ADAMTS9 localized near the basal bodies of primary cilia in the cytoplasm(30609407).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development", "reference": "3.0609407E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000145808", "ortholog_mouse": "Adamts19", "ortholog_c_elegans": "adt-1", "ortholog_xenopus": "adamts19", "ortholog_drosophila": "sona", "screens": [] }, { "gene": "ADAMTS20", "ensembl_id": "ENSG00000173157", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "ADAM metallopeptidase with thrombospondin type 1 motif 20 [Source:HGNC Symbol,Acc:HGNC:17178]", "omim_id": "611681", "functional_summary": "Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis (30814516", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.0814516E7", "complex_components": {}, "pfam_ids": ["PF17771", "PF19236", "PF00090", "PF01562", "PF01421", "PF08685", "PF19030", "PF05986"], "domain_descriptions": ["Thrombospondin type-1 (TSP1) repeat", "Peptidase M12B", "ADAM/reprolysin", "Peptidase M12B", "propeptide", "ADAMTS/ADAMTS-like", "Spacer 1", "Peptidase M12B", "GON-ADAMTSs", "ADAMTS/ADAMTS-like", "Metallopeptidase", "catalytic domain superfamily", "Thrombospondin type-1 (TSP1) repeat superfamily", "ADAMTS", "cysteine-rich domain 2", "ADAMTS/ADAMTS-like", "cysteine-rich domain 3", "ADAMTS and ADAMTS-like"], "string_link": "https://string-db.org/network/9606/ENSG00000173157", "synonym": "GON-1", "ortholog_mouse": "Adamts20", "ortholog_c_elegans": "gon-1", "ortholog_xenopus": "adamts20", "ortholog_drosophila": "AdamTS-A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.0628, "sd_percent_ciliated": 3.4487, "z_score": 0.9757 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.1, "sd_percent_ciliated": 1.1, "z_score": 1.1 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5362, "sd_percent_ciliated": -3.5362, "z_score": -3.5362 } ] }, { "gene": "ADAMTS9", "ensembl_id": "ENSG00000163638", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "ADAM metallopeptidase with thrombospondin type 1 motif 9 [Source:HGNC Symbol,Acc:HGNC:13202]", "omim_id": "605421", "functional_summary": "Causes NPHP-related ciliopathy (30609407). Has a non-canonical role in ciliary vesicle growth during ciliogenesis (30814516)", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Cardiac & muscle development", "reference": "30609407, 30814516, 34750010, 30609407 ,34750010; 30609407", "complex_components": {}, "pfam_ids": ["PF17771", "PF19030", "PF05986", "PF01562", "PF19236", "PF01421", "PF08685", "PF00090"], "domain_descriptions": ["Thrombospondin type-1 (TSP1) repeat", "Peptidase M12B", "ADAM/reprolysin", "Peptidase M12B", "propeptide", "ADAMTS/ADAMTS-like", "Spacer 1", "Peptidase M12B", "GON-ADAMTSs", "ADAMTS/ADAMTS-like", "Metallopeptidase", "catalytic domain superfamily", "Thrombospondin type-1 (TSP1) repeat superfamily", "ADAMTS", "cysteine-rich domain 2", "ADAMTS/ADAMTS-like", "cysteine-rich domain 3", "ADAMTS and ADAMTS-like"], "string_link": "https://string-db.org/network/9606/ENSG00000163638", "synonym": "KIAA1312", "ciliopathy": "Joubert Syndrome; Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Adamts9", "ortholog_c_elegans": "gon-1", "ortholog_xenopus": "adamts9", "ortholog_zebrafish": "adamts9", "ortholog_drosophila": "AdamTS-A", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.8916, "sd_percent_ciliated": 3.9747, "z_score": -0.4989, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.12, "sd_percent_ciliated": 1.12, "z_score": 1.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3767, "sd_percent_ciliated": -4.3767, "z_score": -4.3767, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADCY2", "ensembl_id": "ENSG00000078295", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate cyclase 2 [Source:HGNC Symbol,Acc:HGNC:233]", "omim_id": "103071", "functional_summary": "ADCY2 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADCY2", "AKAP5", "ARRB2", "PDE4D", "PRKACA", "RXFP1"], "pfam_ids": ["PF06327", "PF16214", "PF00211"], "domain_descriptions": ["Adenylyl cyclase class-3/4/guanylyl cyclase", "Adenylate cyclase", "conserved domain", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Nucleotide cyclase", "Adenylate cyclase", "Adenylate cyclase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000078295", "synonym": "AC2, HBAC2, KIAA1060", "ortholog_mouse": "Adcy2", "ortholog_c_elegans": "acy-2", "ortholog_zebrafish": "adcy2a, adcy2b", "ortholog_drosophila": "Ac76E, ACXA, ACXB, ACXD, ACXE, CG32305", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.6117, "sd_percent_ciliated": 1.3326, "z_score": 0.3153 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.095, "sd_percent_ciliated": 0.095, "z_score": 0.095 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.7178, "sd_percent_ciliated": 0.7178, "z_score": 0.7178 } ] }, { "gene": "ADCY3", "ensembl_id": "ENSG00000138031", "lof_effects": "Longer cilia", "description": "adenylate cyclase 3 [Source:HGNC Symbol,Acc:HGNC:234]", "omim_id": "600291", "functional_summary": "Localized to the plasma membrane of neuro l cilia (17924533, 23392690). First we show here that ACIII is a component of the primary cilia of untreated and lithium-treated FLS synoviocytes (Fig. 6). Next we treated FLS cells for 60 hrs with two ACIII P-site inhibitors: first, we titrated adenosine 3′ monophosphate (3′-AMP) and found that at 5 mM this inhibitor resulted in elongation of primary cilia, on average, to 7.95 μm (n = 33) from 4.28 μm for untreated cells (n = 23) (p<0.05) (Fig. 7A). (19576885)", "localization": "cilia , basal body , transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "17924533, 23392690, 19576885", "complex_components": {}, "pfam_ids": ["PF16214", "PF00211"], "domain_descriptions": ["Adenylyl cyclase class-3/4/guanylyl cyclase", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Nucleotide cyclase", "Adenylate cyclase", "Adenylate cyclase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000138031", "synonym": "AC3", "ortholog_mouse": "Adcy3", "ortholog_xenopus": "dnajc27", "ortholog_zebrafish": "adcy3a, adcy3b", "ortholog_drosophila": "Ac3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.1853, "sd_percent_ciliated": 8.3112, "z_score": -0.0998, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.85, "sd_percent_ciliated": 2.85, "z_score": 2.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9702, "sd_percent_ciliated": -1.9702, "z_score": -1.9702, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADCY4", "ensembl_id": "ENSG00000129467", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate cyclase 4 [Source:HGNC Symbol,Acc:HGNC:235]", "omim_id": "600292", "functional_summary": "P2Y12 purinergic receptor, adenylyl cyclases (i.e., AC4, AC6, and AC8), and protein ki se A (i.e., PKA RI-尾 and PKA RII-伪 regulatory subunits), exchange protein directly activated by cAMP (EPAC) isoform 2, and A-ki se anchoring proteins (i.e., AKAP150) are expressed in cholangiocyte cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.8687752E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000129467", "synonym": "AC4", "ortholog_mouse": "Adcy4", "ortholog_c_elegans": "acy-2", "ortholog_xenopus": "adcy4", "ortholog_drosophila": "Ac76E", "screens": {} }, { "gene": "ADCY5", "ensembl_id": "ENSG00000173175", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate cyclase 5 [Source:HGNC Symbol,Acc:HGNC:236]", "omim_id": "600293", "functional_summary": "AC5 and AC6 concentrate in the primary cilium, and mutation of a previously undescribed cilium-targeting motif in AC5 suppresses its ciliary location, as well as its capacity to inhibit Hh sig lling. Mutated in familial dyskinesia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26092933 ,26092933", "complex_components": {}, "pfam_ids": ["PF00211", "PF16214", "PF06327"], "domain_descriptions": ["Adenylyl cyclase class-3/4/guanylyl cyclase", "Adenylate cyclase", "conserved domain", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Nucleotide cyclase", "Adenylate cyclase", "Adenylate cyclase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000173175", "synonym": "AC5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Adcy5", "ortholog_c_elegans": "acy-4", "ortholog_xenopus": "adcy5", "ortholog_zebrafish": "adcy5", "ortholog_drosophila": "CG43373", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.3978, "sd_percent_ciliated": 2.0748, "z_score": -0.5587 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.63, "sd_percent_ciliated": 1.63, "z_score": 1.63 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2336, "sd_percent_ciliated": 0.2336, "z_score": 0.2336 } ] }, { "gene": "ADCY6", "ensembl_id": "ENSG00000174233", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate cyclase 6 [Source:HGNC Symbol,Acc:HGNC:237]", "omim_id": "600294", "functional_summary": "AC5 and AC6 concentrate in the primary cilium, and mutation of a previously undescribed cilium-targeting motif in AC5 suppresses its ciliary location, as well as its capacity to inhibit Hh sig lling. Mutated in lethal contracture syndrome", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26092933 ,26092933", "complex_components": {}, "pfam_ids": ["PF16214", "PF00211", "PF06327"], "domain_descriptions": ["Adenylyl cyclase class-3/4/guanylyl cyclase", "Adenylate cyclase", "conserved domain", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Nucleotide cyclase", "Adenylate cyclase", "Adenylate cyclase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000174233", "synonym": "AC6", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Adcy6", "ortholog_c_elegans": "acy-4", "ortholog_xenopus": "adcy6", "ortholog_zebrafish": "adcy6a, adcy6b", "ortholog_drosophila": "CG43373", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.2513, "z_score": 0.8631, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.0029, "z_score": 2.6647, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.3031 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 14.5, "z_score": 14.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 14.5 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.311, "z_score": -6.311, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.311 } ] }, { "gene": "ADCY8", "ensembl_id": "ENSG00000155897", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate cyclase 8 [Source:HGNC Symbol,Acc:HGNC:239]", "omim_id": "103070", "functional_summary": "P2Y12 purinergic receptor, adenylyl cyclases (i.e., AC4, AC6, and AC8), and protein ki se A (i.e., PKA RI-尾 and PKA RII-伪 regulatory subunits), exchange protein directly activated by cAMP (EPAC) isoform 2, and A-ki se anchoring proteins (i.e., AKAP150) are expressed in cholangiocyte cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.8687752E7", "complex_components": {}, "pfam_ids": ["PF16214", "PF00211", "PF06327"], "domain_descriptions": ["Adenylyl cyclase class-3/4/guanylyl cyclase", "Adenylate cyclase", "conserved domain", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Nucleotide cyclase", "Adenylate cyclase", "Adenylate cyclase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000155897", "synonym": "AC8, ADCY3, HBAC1", "ortholog_mouse": "Adcy3, Adcy8", "ortholog_c_elegans": "acy-4", "ortholog_xenopus": "dnajc27", "ortholog_zebrafish": "adcy3a, adcy3b, adcy8", "ortholog_drosophila": "Ac3, Ac78C", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.2979, "sd_percent_ciliated": 1.868, "z_score": 1.1254, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0293, "sd_percent_ciliated": 0.0293, "z_score": 0.0293, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4799, "sd_percent_ciliated": -0.4799, "z_score": -0.4799, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADCY9", "ensembl_id": "ENSG00000162104", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate cyclase 9 [Source:HGNC Symbol,Acc:HGNC:240]", "omim_id": "603302", "functional_summary": "ADCY9 has localized in basal body , primary cilia.", "localization": "basal body ,cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00211", "domain_descriptions": ["Adenylyl cyclase class-3/4/guanylyl cyclase", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Nucleotide cyclase"], "string_link": "https://string-db.org/network/9606/ENSG00000162104", "synonym": "AC9", "ortholog_mouse": "Adcy9", "ortholog_c_elegans": "acy-1", "ortholog_xenopus": "adcy9", "ortholog_zebrafish": "adcy9", "ortholog_drosophila": "Ac13E", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.6365, "sd_percent_ciliated": 13.0931, "z_score": 1.2876 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.84, "sd_percent_ciliated": 3.84, "z_score": 3.84 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5926, "sd_percent_ciliated": -3.5926, "z_score": -3.5926 } ] }, { "gene": "ADGB", "ensembl_id": "ENSG00000118492", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "androglobin [Source:HGNC Symbol;Acc:HGNC:21212]", "omim_id": "614630", "functional_summary": "ADGB-dependent increase in the number of ciliated cells upon overexpression of the full-length protein, confirming a ciliogenesis-associated role of ADGB in mammals(33453283).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "33453283 ,33453283", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000118492", "synonym": "C6ORF103; CAPN16; DJ408K24.1; FLJ23121", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Adgb", "ortholog_xenopus": "adgb", "ortholog_zebrafish": "adgb", "screens": [] }, { "gene": "ADGRV1", "ensembl_id": "ENSG00000164199", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "adhesion G protein-coupled receptor V1 [Source:HGNC Symbol,Acc:HGNC:17416]", "omim_id": "602851", "functional_summary": "GPR98. USH2C OMIM 602851. Mutation causes Usher syndrome type IIC", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15671307, 14740321", "complex_components": ["ADGRV1", "PDZD7", "USH2A", "WHRN", "USH1C", "USH1G"], "pfam_ids": ["PF13385", "PF00002", "PF03160", "PF03736"], "domain_descriptions": ["GPS motif", "GPCR", "family 2", "secretin-like", "Na-Ca exchanger/integrin-beta4", "Leucine-rich glioma-inactivated ", "EPTP repeat", "EAR", "Concanavalin A-like lectin/glucanase domain superfamily", "GPCR", "family 2-like", "7TM", "Adhesion G-protein coupled receptor V1", "CalX-like domain superfamily", "GAIN domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000164199", "synonym": "DKFZP761P0710, FEB4, GPR98, KIAA0686, MASS1, USH2C, VLGR1", "ortholog_mouse": "Adgrv1", "ortholog_xenopus": "adgrv1", "ortholog_zebrafish": "adgrv1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.096, "sd_percent_ciliated": 0.096, "z_score": 0.096, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ADH1A", "ensembl_id": "ENSG00000187758", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "alcohol dehydrogenase 1A (class I), alpha polypeptide [Source:HGNC Symbol,Acc:HGNC:249]", "omim_id": "103700", "functional_summary": "ADH1A has localized in transition zone, primary cilia.", "localization": "transition zone, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADH1A", "ADH1B", "ADH1C"], "pfam_ids": ["PF00107", "PF08240"], "domain_descriptions": ["Alcohol dehydrogenase", "zinc-type", "conserved site", "GroES-like superfamily", "Alcohol dehydrogenase-like", "C-terminal", "Alcohol dehydrogenase-like", "N-terminal", "Polyketide synthase", "enoylreductase domain", "NAD(P)-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000187758", "synonym": "ADH1", "ortholog_mouse": "Adh1", "ortholog_c_elegans": "adh-5", "ortholog_xenopus": "adh1a, adh1b, adh1c, adh6, adh7, LOC100486839, LOC100487777, LOC100488099", "ortholog_zebrafish": "adh5l, adh8a, adh8b, zgc:77938", "ortholog_drosophila": "Fdh", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.6395, "sd_percent_ciliated": 4.6437, "z_score": 0.9244 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 } ] }, { "gene": "ADH1B", "ensembl_id": "ENSG00000196616", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "alcohol dehydrogenase 1B (class I), beta polypeptide [Source:HGNC Symbol,Acc:HGNC:250]", "omim_id": "103720", "functional_summary": "ADH1B has localized in transition zone, primary cilia.", "localization": "transition zone, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADH1A", "ADH1B", "ADH1C"], "pfam_ids": ["PF08240", "PF00107"], "domain_descriptions": ["Alcohol dehydrogenase", "zinc-type", "conserved site", "GroES-like superfamily", "Alcohol dehydrogenase-like", "C-terminal", "Alcohol dehydrogenase-like", "N-terminal", "Polyketide synthase", "enoylreductase domain", "NAD(P)-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000196616", "synonym": "ADH2", "ortholog_mouse": "Adh1", "ortholog_c_elegans": "adh-5", "ortholog_xenopus": "adh1a, adh1b, adh1c, adh6, adh7, LOC100486839, LOC100487777, LOC100488099", "ortholog_zebrafish": "adh5l, adh8a, adh8b, zgc:77938", "ortholog_drosophila": "Fdh", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.9081, "z_score": 0.756, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.1905, "z_score": 2.2028, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.6404 } ] }, { "gene": "ADH1C", "ensembl_id": "ENSG00000248144", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "alcohol dehydrogenase 1C (class I), gamma polypeptide [Source:HGNC Symbol,Acc:HGNC:251]", "omim_id": "103730", "functional_summary": "ADH1C has localized in transition zone, primary cilia.", "localization": "transition zone, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADH1A", "ADH1C", "ADH1B"], "pfam_ids": ["PF08240", "PF00107"], "domain_descriptions": ["Alcohol dehydrogenase", "zinc-type", "conserved site", "GroES-like superfamily", "Alcohol dehydrogenase-like", "C-terminal", "Alcohol dehydrogenase-like", "N-terminal", "Polyketide synthase", "enoylreductase domain", "NAD(P)-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000248144", "synonym": "ADH3", "ortholog_mouse": "Adh1", "ortholog_c_elegans": "adh-5", "ortholog_xenopus": "adh1a, adh1b, adh1c, adh6, adh7, LOC100486839, LOC100487777, LOC100488099", "ortholog_zebrafish": "adh5l, adh8a, adh8b, zgc:77938", "ortholog_drosophila": "Fdh", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.894, "sd_percent_ciliated": 5.507, "z_score": -0.4986 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0571, "sd_percent_ciliated": -0.0571, "z_score": -0.0571 } ] }, { "gene": "ADM", "ensembl_id": "ENSG00000148926", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adrenomedullin [Source:HGNC Symbol,Acc:HGNC:259]", "omim_id": "103275", "functional_summary": "The vertebrate/human-type vasoactive molecule adrenomedullin (ADM) and its close relative compounds (PAMP and CGRP) have ligand-specific, diverse effects on the migratory behaviour of the eukaryotic ciliate Tetrahyme piriformis ( 26481478).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.6481478E7", "complex_components": ["ADM", "CALCRL", "GNAS", "GNB1", "GNG2", "RAMP2", "RAMP3"], "pfam_ids": "PF00214", "domain_descriptions": ["Pro-adrenomedullin", "Calcitonin/adrenomedullin", "Adrenomedullin-regulatory peptide"], "string_link": "https://string-db.org/network/9606/ENSG00000148926", "synonym": "AM", "ortholog_mouse": "Adm", "ortholog_xenopus": "adm", "ortholog_zebrafish": "adma, admb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.9702, "sd_percent_ciliated": 16.854, "z_score": -0.6105 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.47, "sd_percent_ciliated": 2.47, "z_score": 2.47 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.5643, "sd_percent_ciliated": -5.5643, "z_score": -5.5643 } ] }, { "gene": "ADNP", "ensembl_id": "ENSG00000101126", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "activity dependent neuroprotector homeobox [Source:HGNC Symbol,Acc:HGNC:15766]", "omim_id": "611386", "functional_summary": "ADNP has localized in basal body, cilia.", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101126", "synonym": "ADNP1, KIAA0784", "ortholog_mouse": "Adnp", "ortholog_xenopus": "adnp", "ortholog_zebrafish": "adnpa, adnpb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.0131, "sd_percent_ciliated": 7.7566, "z_score": -0.9688 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.64, "sd_percent_ciliated": 2.64, "z_score": 2.64 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.8924, "sd_percent_ciliated": -8.8924, "z_score": -8.8924 } ] }, { "gene": "ADORA1", "ensembl_id": "ENSG00000163485", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenosine A1 receptor [Source:HGNC Symbol,Acc:HGNC:262]", "omim_id": "102775", "functional_summary": "ADORA1 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADORA1", "DRD1", "ADORA2A", "P2RY1", "GNAI2", "GNB1", "GNG2", "TBXA2R"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Adenosine A1 receptor", "Adenosine receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000163485", "synonym": "RDC7", "ortholog_mouse": "Adora1", "ortholog_c_elegans": "ador-1", "ortholog_xenopus": "adora1", "ortholog_zebrafish": "adora1b", "ortholog_drosophila": "AdoR", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.0952, "sd_percent_ciliated": 3.1864, "z_score": 0.7374, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.132, "sd_percent_ciliated": 0.132, "z_score": 0.132, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9795, "sd_percent_ciliated": -4.9795, "z_score": -4.9795, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADORA2A", "ensembl_id": "ENSG00000128271", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenosine A2a receptor [Source:HGNC Symbol,Acc:HGNC:263]", "omim_id": "102776", "functional_summary": "ADORA2A has localized in cilia.", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADA", "ADORA2A", "DPP4", "DRD2", "CNR1", "GRM5", "GAS2L2", "ADORA1", "ADORA3", "ADORA2B", "HTR1A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000128271", "synonym": "ADORA2, RDC8", "ortholog_mouse": "Adora2a", "ortholog_c_elegans": "ador-1", "ortholog_xenopus": "adora2a", "ortholog_zebrafish": "adora2aa, adora2ab", "ortholog_drosophila": "AdoR", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.1275, "sd_percent_ciliated": 1.7187, "z_score": -1.1972, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.498, "sd_percent_ciliated": 0.498, "z_score": 0.498, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.4159, "sd_percent_ciliated": -4.4159, "z_score": -4.4159, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADORA2B", "ensembl_id": "ENSG00000170425", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenosine A2b receptor [Source:HGNC Symbol,Acc:HGNC:264]", "omim_id": "600446", "functional_summary": "ADORA2B has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADORA2A", "ADORA2B", "ADA", "DCC", "SNAP23", "VAMP2", "EZR", "NHERF2", "ACTN1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000170425", "ortholog_mouse": "Adora2b", "ortholog_c_elegans": "ador-1", "ortholog_xenopus": "adora2b", "ortholog_zebrafish": "adora2b", "ortholog_drosophila": "AdoR", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.4082, "sd_percent_ciliated": 0.7864, "z_score": 0.4118 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.811, "sd_percent_ciliated": 0.811, "z_score": 0.811 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6305, "sd_percent_ciliated": -0.6305, "z_score": -0.6305 } ] }, { "gene": "ADRB2", "ensembl_id": "ENSG00000169252", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "adrenoceptor beta 2 [Source:HGNC Symbol,Acc:HGNC:286]", "omim_id": "109690", "functional_summary": "ADRB2, KISS1R, and P2RY14 localized to cilia in both MIN6 and 伪-TC9 cells (34385262).", "localization": "cilia, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "3.4385262E7", "complex_components": ["ADRB2", "AKAP5", "KCNMA1", "CFTR", "NHERF1", "GNAS", "Gnb1", "GNG2", "Gnas", "PTGER1", "GIPR", "OXTR", "Oprd1", "Oprk1", "Agtr1", "Nos1", "ADRA1D", "RAB8A", "ADRA2C", "ADRB1", "OPRD1", "ARRDC3", "ARRDC4", "CNIH4", "USP20", "USP33", "MARCHF2", "EIF2S2", "AGTR1", "HTR4", "SSTR5", "RAB11A"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Beta 2 adrenoceptor", "Adrenoceptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000169252", "synonym": "ADRB2R, ADRBR, ARB2, B2AR, BAR", "ortholog_mouse": "Adrb2", "ortholog_xenopus": "adrb2", "ortholog_zebrafish": "adrb2a, adrb2b", "ortholog_drosophila": "Octβ2R, Octβ3R", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.0548, "sd_percent_ciliated": 15.2922, "z_score": 1.0959 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.5216, "sd_percent_ciliated": -5.5216, "z_score": -5.5216 } ] }, { "gene": "ADRB3", "ensembl_id": "ENSG00000188778", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adrenoceptor beta 3 [Source:HGNC Symbol,Acc:HGNC:288]", "omim_id": "109691", "functional_summary": "ADRB3 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADRB3", "ARRDC3", "GNAS"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Beta 3 adrenoceptor", "Adrenoceptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000188778", "ortholog_mouse": "Adrb3", "ortholog_zebrafish": "adrb3a, adrb3b", "ortholog_drosophila": "Octβ1R, Octβ2R, Octβ3R", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.9227, "sd_percent_ciliated": 5.3822, "z_score": -0.1316, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.281, "sd_percent_ciliated": 0.281, "z_score": 0.281, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7462, "sd_percent_ciliated": -0.7462, "z_score": -0.7462, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ADSL", "ensembl_id": "ENSG00000239900", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "adenylosuccinate lyase [Source:HGNC Symbol;Acc:HGNC:291]", "omim_id": "608222", "functional_summary": "While KV area and cilia number were not significantly affected by Adsl depletion, cilia length was reduced in Adsl ATG MO-treated embryos(35133277).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "3.5133277E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000239900", "ortholog_mouse": "Adsl", "ortholog_c_elegans": "adsl-1", "ortholog_xenopus": "adsl", "ortholog_zebrafish": "adsl", "ortholog_drosophila": "Adsl", "screens": [] }, { "gene": "AFAP1", "ensembl_id": "ENSG00000196526", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "actin filament associated protein 1 [Source:HGNC Symbol;Acc:HGNC:24017]", "omim_id": "608252", "functional_summary": "Rare variants were present in multiple genes distinct from those with BA-associated common variants in most BA cases. AFAP1 and TUSC3 knockdown blocked ciliogenesis in mouse tracheal cells. Inhibition of ciliogenesis caused biliary dysgenesis in zebrafish. AFAP1 and TUSC3 were expressed in fetal liver organoids, as well as fetal and BA livers, but not in normal or disease-control livers. Integrative analysis of BA-associated variants and liver transcripts revealed abnormal vasculogenesis and epithelial tube formation, explaining portal vein anomalies that co-exist with BA(37572794).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.7572794E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000196526", "synonym": "AFAP; AFAP-110", "ortholog_mouse": "Afap1", "ortholog_xenopus": "afap1", "ortholog_zebrafish": "afap1", "screens": [] }, { "gene": "AFG3L2", "ensembl_id": "ENSG00000141385", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "AFG3 like matrix AAA peptidase subunit 2 [Source:HGNC Symbol,Acc:HGNC:315]", "omim_id": "604581", "functional_summary": "AFG3L2 has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism, Protein processing & maturation, Cardiac & muscle development", "reference": "https://www.proteinatlas.org/, 16251216, 20208537", "complex_components": ["AFG3L2", "ATP5MG", "FXN", "HSPA9", "HSPD1", "LYRM4", "SDHA"], "pfam_ids": ["PF00004", "PF01434", "PF17862", "PF06480"], "domain_descriptions": ["Peptidase M41", "AAA+ ATPase domain", "ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "ATP-dependent zinc metalloprotease", "FtsH", "Peptidase M41", "FtsH extracellular", "P-loop containing nucleoside triphosphate hydrolase", "Peptidase M41-like", "AAA ATPase", "AAA+ lid domain", "ATP-dependent Zinc Metalloprotease"], "string_link": "https://string-db.org/network/9606/ENSG00000141385", "synonym": "SCA28, SPAX5", "ortholog_mouse": "Afg3l2", "ortholog_c_elegans": "spg-7", "ortholog_xenopus": "afg3l2", "ortholog_zebrafish": "afg3l2", "ortholog_drosophila": "Afg3l2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.4468, "sd_percent_ciliated": 2.288, "z_score": 0.1742 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.505, "sd_percent_ciliated": 0.505, "z_score": 0.505 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.1158, "sd_percent_ciliated": -4.1158, "z_score": -4.1158 } ] }, { "gene": "AGBL2", "ensembl_id": "ENSG00000165923", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "AGBL carboxypeptidase 2 [Source:HGNC Symbol,Acc:HGNC:26296]", "omim_id": "617345", "functional_summary": "AGBL2 has localized in basal body. We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). However, because of the polygenic genetic architecture and low penetrance of nonsyndromic TOF, it was impossible to construct mouse models for each candidate ciliary gene to verify its pathogenic role in TOF. We therefore selected six previously unidentified genes (namely AGBL2, MLF1, PKHD1L1, PPEF2, SPTBN5, and TEKT3) with recurrent mutations for mouse models construction and phenotype validation, both to illustrate the reliability of our screening strategy and to provide in vivo evidence supporting the contribution of ciliary gene variants to TOF pathogenesis. (41071877)", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273, 41071877", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000165923", "synonym": "CCP2, FLJ23598", "ciliopathy": "Tetralogy of Fallot (TOF)", "ortholog_mouse": "Agbl2", "ortholog_xenopus": "agbl2", "ortholog_zebrafish": "agbl2", "ortholog_drosophila": "Nna1", "screens": {} }, { "gene": "AGBL5", "ensembl_id": "ENSG00000084693", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "AGBL carboxypeptidase 5 [Source:HGNC Symbol,Acc:HGNC:26147]", "omim_id": "615900", "functional_summary": "CCP5. Tubulin deglutamylase. Knockdown in zebrafish leads to increase in glutamylation of axonemal (24743595). Knockdown can rescue cilia defects in other zebrafish cilia mutants (24743595). Biallelic missense mutations cause autosomal recessive retinitis pigmentosa (OMIM:615900) (26355662, 26720455, 27764769, 27842159). Causes structural defects in sperm flagella and spermatids with supernumerary centrioles leading to male infertility in mutant mice (c)", "localization": "basal body,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "24743595, 26355662, 26720455, 27764769, 27842159, 26355662, 26720455, 27764769, 27842159, 26720455", "complex_components": {}, "pfam_ids": ["PF18027", "PF00246"], "domain_descriptions": ["Cytosolic carboxypeptidase", "N-terminal", "Cytosolic carboxypeptidase", "Peptidase M14", "carboxypeptidase A", "Cytosolic carboxypeptidase-like protein 5 catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000084693", "synonym": "CCP5, FLJ21839", "ortholog_mouse": "Agbl5", "ortholog_xenopus": "agbl5", "ortholog_zebrafish": "agbl5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.98, "sd_percent_ciliated": 2.98, "z_score": 2.98, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.403, "sd_percent_ciliated": 0.403, "z_score": 0.403, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AGO2", "ensembl_id": "ENSG00000123908", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "argonaute RISC catalytic component 2 [Source:HGNC Symbol,Acc:HGNC:3263]", "omim_id": "606229", "functional_summary": "hAgo2 localized to the proximal portion of the shaft of the primary cilium and localized to the basal body of primary human astrocytes as well as human synoviocytes during interphase and specifically with the distal end of the basal body in the pericentriolar region (21880135).", "localization": "basal body, cilia, Cytosol, Nucleus, P-body", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.1880135E7", "complex_components": ["AGO2", "ZFP36", "DICER1", "HSP90AB1", "TARBP2", "FXR1", "EIF6", "MOV10", "RPL7A", "PARN", "KRAS"], "pfam_ids": ["PF16486", "PF08699", "PF16488", "PF02171", "PF16487", "PF02170"], "domain_descriptions": ["PAZ domain", "Piwi domain", "Ribonuclease H-like superfamily", "Argonaute", "linker 1 domain", "Protein argonaute-2", "Argonaute linker 2 domain", "Protein argonaute", "Mid domain", "Protein argonaute", "N-terminal", "PAZ domain superfamily", "Ribonuclease H superfamily", "Argonaute-like", "PIWI domain"], "string_link": "https://string-db.org/network/9606/ENSG00000123908", "synonym": "CASC7, EIF2C2, HAGO2, LINC00980, Q10", "ortholog_mouse": "Ago2", "ortholog_c_elegans": "alg-1, alg-2", "ortholog_xenopus": "ago2", "ortholog_zebrafish": "ago2", "ortholog_drosophila": "AGO1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.03, "sd_percent_ciliated": 8.03, "z_score": 8.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "AGR3", "ensembl_id": "ENSG00000173467", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "anterior gradient 3, protein disulphide isomerase family member [Source:HGNC Symbol,Acc:HGNC:24167]", "omim_id": "609482", "functional_summary": "AGR3 expression is restricted to ciliated cells in the airway epithelium. Required for Regulation of Ciliary Beat Frequency in the Airway.", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "25751668 ,25751668", "complex_components": {}, "pfam_ids": "PF13899", "domain_descriptions": ["Thioredoxin-like superfamily", "Anterior Gradient and Thioredoxin Domain"], "string_link": "https://string-db.org/network/9606/ENSG00000173467", "synonym": "BCMP11, HAG-3, HAG3, PDIA18", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Agr3", "ortholog_c_elegans": "txdc-12.1", "ortholog_xenopus": "agr3", "ortholog_zebrafish": "agr1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4192, "sd_percent_ciliated": -0.4192, "z_score": -0.4192, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AGTPBP1", "ensembl_id": "ENSG00000135049", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP/GTP binding carboxypeptidase 1 [Source:HGNC Symbol,Acc:HGNC:17258]", "omim_id": "606830", "functional_summary": "AGTPBP1 has localized in basal body , primary cilia.", "localization": "basal body ,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF18027", "PF00246"], "domain_descriptions": ["Peptidase M14", "carboxypeptidase A", "Armadillo-like helical", "Armadillo-type fold", "Cytosolic aminopeptidase 1/4", "Cytosolic carboxypeptidase", "N-terminal", "Cytosolic carboxypeptidase"], "string_link": "https://string-db.org/network/9606/ENSG00000135049", "synonym": "CCP1, KIAA1035, NNA1", "ortholog_mouse": "Agtpbp1", "ortholog_c_elegans": "ccpp-1", "ortholog_xenopus": "agtpbp1", "ortholog_zebrafish": "agtpbp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.7532, "sd_percent_ciliated": 0.7212, "z_score": -0.3945, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.38, "sd_percent_ciliated": 2.38, "z_score": 2.38, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7938, "sd_percent_ciliated": -1.7938, "z_score": -1.7938, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AHI1", "ensembl_id": "ENSG00000135541", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Decreased", "description": "Abelson helper integration site 1 [Source:HGNC Symbol,Acc:HGNC:21575]", "omim_id": "608894", "functional_summary": "Mutated in Joubert syndrome (type 3) OMIM 608894, PMID:16453322. At mother centriole/basal body. Interacts with B9 complex of transition zone proteins including B9D1, B9D2, MKS1, TCTN1, TCTN2 PMID:22179047. Role in RAB8-dependent ciliary membrane targeting PMID:19625297.", "localization": "basal body , cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "16453322 22179047 19625297, 15786477 ,15786477", "complex_components": ["AHI1", "NPHP1", "HAP1"], "pfam_ids": ["PF00400", "PF00018"], "domain_descriptions": ["SH3 domain", "WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Jouberin", "SH3 domain", "SH3-like domain superfamily", "WD40-repeat-containing domain superfamily", "Primary Cilium-Associated Jouberin"], "string_link": "https://string-db.org/network/9606/ENSG00000135541", "synonym": "FLJ20069, JBTS3, ORF1", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ahi1", "ortholog_xenopus": "ahi1", "ortholog_zebrafish": "ahi1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.6782, "sd_percent_ciliated": 7.4361, "z_score": -0.0401 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.15, "sd_percent_ciliated": 2.15, "z_score": 2.15 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.7049, "sd_percent_ciliated": -0.7049, "z_score": -0.7049 } ] }, { "gene": "AHR", "ensembl_id": "ENSG00000106546", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aryl hydrocarbon receptor [Source:HGNC Symbol,Acc:HGNC:348]", "omim_id": "600253", "functional_summary": "AhR deficiency affects both multiciliated cell commitment and cilia organization. In the presence of a Notch inhibitor, AhR agonists are still u ble to trigger Ccno induction, indicating that Notch sig ls are not sufficient to provide the specificity for AhR-induced ciliogenesis ( 27554288).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "27554288, 29726989", "complex_components": ["AHR", "ARNT", "CUL4B", "DDB1", "RBX1", "TBL3"], "pfam_ids": ["PF00010", "PF00989", "PF08447"], "domain_descriptions": ["PAS domain", "PAC motif", "Myc-type", "basic helix-loop-helix (bHLH) domain", "PAS fold-3", "PAS fold", "Aryl hydrocarbon receptor", "basic helix-loop-helix domain", "PAS domain superfamily", "Helix-loop-helix DNA-binding domain superfamily", "Aryl hydrocarbon receptor/Aryl hydrocarbon receptor repressor"], "string_link": "https://string-db.org/network/9606/ENSG00000106546", "synonym": "BHLHE76", "ortholog_mouse": "Ahr", "ortholog_c_elegans": "ahr-1", "ortholog_xenopus": "ahr", "ortholog_zebrafish": "ahr1a, ahr1b", "ortholog_drosophila": "ss", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.9656, "z_score": -1.3902, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 24.9804, "z_score": -1.5785, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.627 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.99, "z_score": 2.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.99 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.274, "z_score": -1.274, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.274 } ] }, { "gene": "AIDA", "ensembl_id": "ENSG00000186063", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "axin interactor, dorsalization associated [Source:HGNC Symbol,Acc:HGNC:25761]", "omim_id": "612375", "functional_summary": "AIDA has localized in basal body , primary cilia.", "localization": "basal body ,cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF08910", "PF14186"], "domain_descriptions": ["Axin interactor", "dorsalization-associated protein", "N-terminal", "Axin interactor dorsalization-associated protein", "C-terminal", "C2 domain superfamily", "Axin interactor", "dorsalization-associated protein", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000186063", "synonym": "C1ORF80, FLJ12806", "ortholog_mouse": "Aida", "ortholog_xenopus": "aida", "ortholog_zebrafish": "aida", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 22.3, "sd_percent_ciliated": 22.3, "z_score": 22.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0226, "sd_percent_ciliated": -1.0226, "z_score": -1.0226, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AIPL1", "ensembl_id": "ENSG00000129221", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "AIP like 1 HSP90 co-chaperone [Source:HGNC Symbol,Acc:HGNC:359]", "omim_id": "604392", "functional_summary": "Mutated in LCA. Localises to photoreceptor cilium, interacts with EB1", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25799540, 16272259 ,16272259", "complex_components": ["AIPL1", "HSP90AA1", "HSPA1A", "HSPA8", "PDE6A", "PDE6B", "PDE6G", "PDE6C", "PDE6H", "PDE5A"], "pfam_ids": "PF23322", "domain_descriptions": ["AIP/AIPL1/TTC9", "Peptidyl-prolyl cis-trans isomerase domain superfamily", "AIP/AIPL", "N-terminal FKBP-type PPIase domain", "Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000129221", "synonym": "LCA4", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Aipl1", "ortholog_c_elegans": "aipr-1", "ortholog_zebrafish": "aipl1", "ortholog_drosophila": "CG1847", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.9985, "sd_percent_ciliated": 10.4354, "z_score": -0.2436 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.1, "sd_percent_ciliated": 1.1, "z_score": 1.1 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0511, "sd_percent_ciliated": 0.0511, "z_score": 0.0511 } ] }, { "gene": "AJM1", "ensembl_id": "ENSG00000232434", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "apical junction component 1 homolog [Source:HGNC Symbol,Acc:HGNC:37284]", "functional_summary": "AJM-1::CFP apical junction and the DYF-19::RFP BB fusion proteins localized to adjacent zones in the head when expressed in ciliated sensory neurons and localization of the AJM-1::CFP fusion protein was restricted to a rrow band in the distal AWC dendrite(27623382).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.7623382E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000232434", "synonym": "AJM-1, C9ORF172", "ortholog_mouse": "Ajm1", "ortholog_c_elegans": "ajm-1", "ortholog_xenopus": "ajm1", "ortholog_zebrafish": "ajm1, unm_hu7912", "ortholog_drosophila": "CG42748", "screens": {} }, { "gene": "AJUBA", "ensembl_id": "ENSG00000129474", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ajuba LIM protein [Source:HGNC Symbol,Acc:HGNC:20250]", "omim_id": "609066", "functional_summary": "GFP-Ajuba co-localized with the centrosome/basal body marker 纬-tubulin, although additio l GFP-Ajuba granules could be seen scattered in the cytoplasm (20457130)", "localization": "basal body, Cytosol, Nucleus, P-body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.045713E7", "complex_components": ["AJUBA", "GFI1", "HDAC1", "HDAC2", "HDAC3", "PRMT5", "SNAI1", "LATS2", "CCAR2", "CREBBP", "ESR1", "NR1H3", "RXRG"], "pfam_ids": "PF00412", "domain_descriptions": ["Zinc finger", "LIM-type", "Ajuba-like", "Ajuba-like", "LIM domain 1", "Ajuba-like", "LIM domain 2", "Ajuba-like", "LIM domain 3"], "string_link": "https://string-db.org/network/9606/ENSG00000129474", "synonym": "JUB, MGC15563", "ortholog_mouse": "Ajuba", "ortholog_zebrafish": "ajuba", "ortholog_drosophila": "jub", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.74, "sd_percent_ciliated": 1.74, "z_score": 1.74, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.2267, "sd_percent_ciliated": 3.2267, "z_score": 3.2267, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AK1", "ensembl_id": "ENSG00000106992", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate kinase 1 [Source:HGNC Symbol;Acc:HGNC:361]", "omim_id": "103000", "functional_summary": "Western blotting analyses showed that AK1 is localized at the cilia, and AK2 is mainly located in the cytoplasm. In our phosphoarginine shuttle model(24726623).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Reproduction & sperm", "reference": "2.4726623E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000106992", "synonym": "ADK; ADK1", "ortholog_mouse": "Adk, Ak1", "ortholog_c_elegans": "adk-1, F38B2.4", "ortholog_xenopus": "adk, ak1", "ortholog_zebrafish": "adka, adkb, ak1", "ortholog_drosophila": "Adk1, Adk2, Adk3, Ak1", "screens": [] }, { "gene": "AK7", "ensembl_id": "ENSG00000140057", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "adenylate kinase 7 [Source:HGNC Symbol,Acc:HGNC:20091]", "omim_id": "615364", "functional_summary": "Ultrastructural defects in 9+2 cilia, leading to PCD phenotype in mutant mice PMID:18776131. Role in ATP production to power ciliary beating. Reduced expression levels in PCD patients PMID:20537283. 1 single possibly pathogenic variant found in AK7 in 1 PCD patient 22801010. Homozygous missense mutation L673P in adenylate ki se 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. Mutations lead to spermatogenic failure in humans", "localization": "flagella, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Reproduction & sperm", "reference": "18776131 20537283 22801010, 30517620 ,18776131", "complex_components": {}, "pfam_ids": ["PF00406", "PF05186"], "domain_descriptions": ["Adenylate kinase/UMP-CMP kinase", "Dpy-30 motif", "P-loop containing nucleoside triphosphate hydrolase", "NAD(P)-binding domain superfamily", "Adenylate kinase 7", "dimerization/docking domain", "NAD(P)-dependent oxidoreductase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000140057", "synonym": "CFAP75, FAP75, FLJ32864", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ak7", "ortholog_xenopus": "ak7", "ortholog_zebrafish": "ak7a, ak7b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.3534, "sd_percent_ciliated": 2.7017, "z_score": -0.0795, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.854, "sd_percent_ciliated": 0.854, "z_score": 0.854, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "AK8", "ensembl_id": "ENSG00000165695", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate kinase 8 [Source:HGNC Symbol,Acc:HGNC:26526]", "omim_id": "615365", "functional_summary": "Hydrocephalus due to dysfunctiol motile cilia in KO mouse (21746835). Here, we identify EF-hand calcium-binding domain protein 10 (EFCAB10) and adenylate kinase (AK8) as radial spoke proteins and describe their roles in mouse motile cilia. Using Efcab10-/- and Ak8-/- mice, we show that loss of either protein can affect ciliary motility and lead to PCD-related phenotypes in mice. Interestingly, ciliary AK8 is completely absent in Efcab10-/- cilia, but the loss of AK8 has no effect on ciliary EFCAB10. Further biochemical analyses reveal that EFCAB10 interacts with AK8 and RSPH3B, which fastens AK8 to the radial spoke. Overall, our findings demonstrate the essential role of EFCAB10 as a radial spoke protein in maintaining the integrity of the radial spoke and provide valuable insights into the molecular basis of related ciliopathies. (41055978)", "localization": "flagella, cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "21746835, 24740601, 41055978", "complex_components": {}, "pfam_ids": "PF00406", "domain_descriptions": ["Adenylate kinase/UMP-CMP kinase", "P-loop containing nucleoside triphosphate hydrolase", "Adenylate kinase", "active site lid domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000165695", "synonym": "C9ORF98, FLJ32704", "ortholog_mouse": "Ak8", "ortholog_xenopus": "ak8", "ortholog_zebrafish": "ak8", "ortholog_drosophila": "CG15543", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.72, "sd_percent_ciliated": 2.72, "z_score": 2.72, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6397, "sd_percent_ciliated": -5.6397, "z_score": -5.6397, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AK9", "ensembl_id": "ENSG00000155085", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adenylate kinase 9 [Source:HGNC Symbol,Acc:HGNC:33814]", "omim_id": "615358", "functional_summary": "Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "3.8100419E7", "complex_components": {}, "pfam_ids": ["PF00406", "PF13238"], "domain_descriptions": ["Adenylate kinase/UMP-CMP kinase", "P-loop containing nucleoside triphosphate hydrolase", "AAA+ ATPase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000155085", "synonym": "AKD1, AKD2, C6ORF199, C6ORF224, DJ70A9.1, FLJ25791, FLJ42177, MGC26954", "ortholog_mouse": "Ak9", "ortholog_xenopus": "ak9", "ortholog_zebrafish": "ak9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.34, "sd_percent_ciliated": 5.34, "z_score": 5.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "AKAP12", "ensembl_id": "ENSG00000131016", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "A-kinase anchoring protein 12 [Source:HGNC Symbol;Acc:HGNC:370]", "omim_id": "604698", "functional_summary": "Ectopic expression of Akap12 in renal epithelia results in abnormally long primary cilia similar to that observed in Notch-signaling-deficient epithelia. Both loss of Notch signaling and elevated Akap12 expression disrupt the ability of renal epithelial cells to form spherical structures with a single lumen when grown embedded in matrix. Interestingly, Akap12 can inhibit Notch signaling mediated transcription, which likely explains how both loss of Notch signaling and ectopic expression of Akap12 result in similar renal epithelial abnormalities. We conclude that Notch signaling regulates Akap12 expression while also ensuring normal primary cilia length and renal epithelial morphogenesis, and suggest that one aspect of diseases associated with defective Notch signaling, such as Alagille syndrome, maybe mechanistically related to ciliopathies(32474964).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation, Cilia length regulation", "reference": "3.2474964E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000131016", "synonym": "AKAP250; SSECKS", "ortholog_mouse": "Akap12", "ortholog_xenopus": "akap12", "ortholog_zebrafish": "akap12a, akap12b", "screens": [] }, { "gene": "AKAP3", "ensembl_id": "ENSG00000111254", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "A-kinase anchoring protein 3 [Source:HGNC Symbol,Acc:HGNC:373]", "omim_id": "604689", "functional_summary": "N-termi l domain of Sp17 binds the RII binding domain of AKAP3 along the length of the flagella in spermatozoa (15257753) , AKAP3 and AKAP4 localized correctly to the FS of the amorphous flagellum in DFS sperm.", "localization": "flagella, Nucleus", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15257753, 11229805", "complex_components": {}, "pfam_ids": "PF05716", "domain_descriptions": ["SPHK1-interactor/A-kinase anchor 110kDa", "A-kinase anchor 110kDa", "C-terminal", "A-kinase anchor 110kDa"], "string_link": "https://string-db.org/network/9606/ENSG00000111254", "synonym": "AKAP110, CT82, FSP95, SOB1", "ortholog_mouse": "Akap3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.9408, "sd_percent_ciliated": 12.8405, "z_score": 0.4763, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.697, "sd_percent_ciliated": 0.697, "z_score": 0.697, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.788, "sd_percent_ciliated": -0.788, "z_score": -0.788, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AKAP4", "ensembl_id": "ENSG00000147081", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "A-kinase anchoring protein 4 [Source:HGNC Symbol,Acc:HGNC:374]", "omim_id": "300185", "functional_summary": "AKAP4 binds AKAP3 and expression of AKAP3 is reduced in AKAP4 knockout sperm, AND AKAP3 and AKAP4 localized correctly to the fibrous sheath of the amorphous flagellum in Dysplasia of the fibrous sheath (DFS) sperm (11229805).", "localization": "flagella, Nucleus", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15257753, 11229805", "complex_components": {}, "pfam_ids": ["PF10522", "PF05716"], "domain_descriptions": ["SPHK1-interactor/A-kinase anchor 110kDa", "A-kinase anchor 110kDa", "C-terminal", "RII binding domain", "A-kinase anchor 110kDa"], "string_link": "https://string-db.org/network/9606/ENSG00000147081", "synonym": "AKAP82, CT99, FSC1, HAKAP82, HI, P82", "ortholog_mouse": "Akap4", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.2819, "z_score": 0.8727, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 63.4947, "z_score": 3.0877, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.7113 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.58, "z_score": 1.58, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.58 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5132, "z_score": 1.5132, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 1.5132 } ] }, { "gene": "AKAP5", "ensembl_id": "ENSG00000179841", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "A-kinase anchoring protein 5 [Source:HGNC Symbol,Acc:HGNC:375]", "omim_id": "604688", "functional_summary": "A-ki se anchoring protein (AKAP)150 are expressed in cholangiocyte primary cilia(18687752).", "localization": "cilia, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.8687752E7", "complex_components": ["AKAP5", "PPP3CA", "PRKAR2A", "ADRB2", "KCNMA1", "ADRB1", "PRKAR2B", "DLG1", "ADCY2", "ARRB2", "PDE4D", "PRKACA", "RXFP1", "TRPA1"], "pfam_ids": "PF03832", "domain_descriptions": ["A kinase-anchoring protein AKAP5 and AKAP12", "calmodulin (CaM)-binding motif", "A-kinase anchor protein 5"], "string_link": "https://string-db.org/network/9606/ENSG00000179841", "synonym": "AKAP75, AKAP79", "ortholog_mouse": "Akap5", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.0141, "sd_percent_ciliated": 14.1621, "z_score": -1.211, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.07, "sd_percent_ciliated": 1.07, "z_score": 1.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.6892, "sd_percent_ciliated": 3.6892, "z_score": 3.6892, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AKAP9", "ensembl_id": "ENSG00000127914", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "A-kinase anchoring protein 9 [Source:HGNC Symbol,Acc:HGNC:379]", "omim_id": "604001", "functional_summary": "PKARII尾 was colocalized with AKAP9 to centrosome-Golgi in all the wild type cells examined (PKA-mediated Gli2 and Gli3 phosphorylation is inhibited by Hedgehog sig ling in cilia and reduced in Talpid3 mutant).", "localization": "basal body, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "28673820 ,29516269, 29910809", "complex_components": ["AKAP9", "KCNQ1", "PPP1CA", "PRKACA", "PRKAR2A", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "PRKAR2B", "PDE4D", "CAMSAP2"], "pfam_ids": "PF10495", "domain_descriptions": ["ELK domain", "Pericentrin/AKAP-450 centrosomal targeting domain", "A-kinase anchor protein 9/Pericentrin"], "string_link": "https://string-db.org/network/9606/ENSG00000127914", "synonym": "AKAP350, AKAP450, CG-NAP, HYPERION, KIAA0803, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Akap9", "ortholog_xenopus": "akap9", "ortholog_zebrafish": "akap9", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.728, "sd_percent_ciliated": 0.3909, "z_score": -0.1552, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.9, "sd_percent_ciliated": 3.9, "z_score": 3.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7303, "sd_percent_ciliated": -4.7303, "z_score": -4.7303, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AKNA", "ensembl_id": "ENSG00000106948", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "AT-hook transcription factor [Source:HGNC Symbol,Acc:HGNC:24108]", "omim_id": "605729", "functional_summary": "Mutations in the AKNA gene cause Primary Ciliary Dyskinesia (PMID: 32367404).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Transcription regulation", "reference": "32367404 ,32367404", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000106948", "synonym": "KIAA1968", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Akna", "ortholog_xenopus": "akna", "ortholog_zebrafish": "akna", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.4008, "sd_percent_ciliated": 8.3206, "z_score": 0.4109, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.68, "sd_percent_ciliated": 0.68, "z_score": 0.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6522, "sd_percent_ciliated": -1.6522, "z_score": -1.6522, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AKT1", "ensembl_id": "ENSG00000142208", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "AKT serine/threonine kinase 1 [Source:HGNC Symbol,Acc:HGNC:391]", "functional_summary": "Neddylation inhibitor MLN4924 suppresses cilia formation by modulating AKT1. Regulates a Rab11- Effector Switch Required for Ciliogenesis. 31204173", "localization": "basal body,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3.0850948E7", "complex_components": ["AKT1", "YBX1", "APPL1", "AR", "TCL1A", "HSP90AA1", "MAP3K5", "HSP90AB1", "NOS3", "CTTN", "GNA13", "HAX1", "FANCD2", "FANCI", "PHLPP1", "PHLPP2", "USP1", "WDR48", "FOXO1", "WDFY2", "NQO2", "HDAC3", "HSPB1", "MAPK14", "MAPKAPK2", "TNK2"], "pfam_ids": ["PF00169", "PF00433", "PF00069"], "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Pleckstrin homology domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PH-like domain superfamily", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "Protein kinase B alpha", "catalytic domain", "Protein Kinase B", "pleckstrin homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000142208", "synonym": "AKT, PKB, PRKBA, RAC, RAC-ALPHA", "ortholog_mouse": "Akt1", "ortholog_c_elegans": "akt-1, akt-2", "ortholog_xenopus": "akt1", "ortholog_zebrafish": "akt1", "ortholog_drosophila": "Akt", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -5.1909, "z_score": -2.0851, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 12.5342, "z_score": -3.0865, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.0483 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.78, "z_score": 1.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.78 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0726, "z_score": -2.0726, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.0726 } ] }, { "gene": "AKT3", "ensembl_id": "ENSG00000117020", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "AKT serine/threonine kinase 3 [Source:HGNC Symbol,Acc:HGNC:393]", "omim_id": "611223", "functional_summary": "AKT3 localized to cilia", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AKT3", "PDE3B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000117020", "synonym": "PKBG, PRKBG, RAC-GAMMA", "ortholog_mouse": "Akt3", "ortholog_c_elegans": "akt-1, akt-2", "ortholog_zebrafish": "akt3a, akt3b", "ortholog_drosophila": "Akt", "screens": {} }, { "gene": "AKTIP", "ensembl_id": "ENSG00000166971", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "AKT interacting protein [Source:HGNC Symbol,Acc:HGNC:16710]", "omim_id": "608483", "functional_summary": "AKTIP has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AKTIP", "FHIP1B", "HOOK1", "HOOK2", "HOOK3", "VPS16", "VPS18", "VPS41"], "pfam_ids": "PF00179", "domain_descriptions": ["Ubiquitin-conjugating enzyme E2", "catalytic core domain", "Ubiquitin-conjugating enzyme/RWD-like", "Ubiquitin-conjugating enzyme"], "string_link": "https://string-db.org/network/9606/ENSG00000166971", "synonym": "FLJ13258, FTS", "ortholog_mouse": "Aktip", "ortholog_c_elegans": "ubc-19", "ortholog_xenopus": "aktip", "ortholog_zebrafish": "aktip", "ortholog_drosophila": "CG16894, peo", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.7483, "sd_percent_ciliated": 1.0583, "z_score": 0.3319, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.6726, "sd_percent_ciliated": -7.6726, "z_score": -7.6726, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ALDOB", "ensembl_id": "ENSG00000136872", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aldolase, fructose-bisphosphate B [Source:HGNC Symbol,Acc:HGNC:417]", "omim_id": "612724", "functional_summary": "ALDOB interacts with BBS proteins (BBS1/2/4/7) has been confirmed , even if ALDOB expression did not overlap with gama-tubulin, it was found adjacent to the centrosome, possibly associated in part to the centriolar satellites ( 18000879)", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "1.8000879E7", "complex_components": ["ALDOB", "G6PD", "TP53"], "pfam_ids": "PF00274", "domain_descriptions": ["Fructose-bisphosphate aldolase", "class-I", "Aldolase-type TIM barrel", "Fructose-bisphosphate aldolase class-I active site"], "string_link": "https://string-db.org/network/9606/ENSG00000136872", "ortholog_mouse": "Aldob", "ortholog_c_elegans": "aldo-1", "ortholog_xenopus": "aldob", "ortholog_zebrafish": "aldob", "ortholog_drosophila": "Aldo, Aldol", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.079, "sd_percent_ciliated": 2.0178, "z_score": -0.1127 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.1812, "sd_percent_ciliated": -5.1812, "z_score": -5.1812 } ] }, { "gene": "ALG5", "ensembl_id": "ENSG00000120697", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ALG5 dolichyl-phosphate beta-glucosyltransferase [Source:HGNC Symbol,Acc:HGNC:20266]", "omim_id": "604565", "functional_summary": "Mutations in the ALG5 gene cause Autosomal Dominant Polycystic Kidney Disease (PMID: 35896117).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "35896117 ,35896117", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000120697", "synonym": "BA421P11.2", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Alg5", "ortholog_c_elegans": "algn-5", "ortholog_xenopus": "alg5", "ortholog_zebrafish": "alg5", "ortholog_drosophila": "wol", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.5444, "sd_percent_ciliated": 1.1617, "z_score": 0.7918 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.51, "sd_percent_ciliated": 4.51, "z_score": 4.51 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0691, "sd_percent_ciliated": -1.0691, "z_score": -1.0691 } ] }, { "gene": "ALG9", "ensembl_id": "ENSG00000086848", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ALG9 alpha-1,2-mannosyltransferase [Source:HGNC Symbol,Acc:HGNC:15672]", "omim_id": "606941", "functional_summary": "Mutations in the ALG9 gene cause Autosomal Dominant Polycystic Kidney Disease (PMID: 31395617).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "31395617 ,31395617", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000086848", "synonym": "DIBD1", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Alg9", "ortholog_c_elegans": "algn-9", "ortholog_xenopus": "alg9", "ortholog_zebrafish": "alg9", "ortholog_drosophila": "Alg9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.923, "sd_percent_ciliated": 0.923, "z_score": 0.923, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6731, "sd_percent_ciliated": -3.6731, "z_score": -3.6731, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ALMS1", "ensembl_id": "ENSG00000116127", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Decreased", "description": "ALMS1 centrosome and basal body associated protein [Source:HGNC Symbol,Acc:HGNC:428]", "omim_id": "606844", "functional_summary": "Mutated in Alstrom syndrome (type 1) OMIM 606844, 11941369, 11941370. Also mutated in 1 LCA family PMID:21901789. siR knockdown leads to shortened cilia and i bility of cilia to respond to mechanical stimuli PMID:17206865.", "localization": "basal body, cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "11941369, 11941370, 15855349, 21901789, 17206865, 17594715 ,17594715; 15855349", "complex_components": {}, "pfam_ids": ["PF15309", "PF18727"], "domain_descriptions": ["ALMS motif", "ALMS repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000116127", "synonym": "KIAA0328", "ciliopathy": "Alström Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Alms1", "ortholog_xenopus": "alms1", "ortholog_zebrafish": "alms1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.5343, "sd_percent_ciliated": 8.1245, "z_score": -1.0268 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.498, "sd_percent_ciliated": 0.498, "z_score": 0.498 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6278, "sd_percent_ciliated": -5.6278, "z_score": -5.6278 } ] }, { "gene": "ALPK1", "ensembl_id": "ENSG00000073331", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "alpha kinase 1 [Source:HGNC Symbol,Acc:HGNC:20917]", "omim_id": "607347", "functional_summary": "missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal domi nt disorder.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0967659E7", "complex_components": {}, "pfam_ids": "PF02816", "domain_descriptions": ["Alpha-type protein kinase", "alpha-kinase domain", "Protein kinase-like domain superfamily", "Alpha-protein kinase 1"], "string_link": "https://string-db.org/network/9606/ENSG00000073331", "synonym": "FLJ22670, KIAA1527, LAK", "ortholog_mouse": "Alpk1", "ortholog_xenopus": "alpk1", "ortholog_zebrafish": "alpk1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.04, "sd_percent_ciliated": 2.04, "z_score": 2.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "AMOT", "ensembl_id": "ENSG00000126016", "overexpression_effects": "Shorter", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "angiomotin [Source:HGNC Symbol,Acc:HGNC:17810]", "omim_id": "300410", "functional_summary": "Angiomotin (AMOT) is a KIF13B interactor that promotes binding of another MAGUK, the polarity protein and Crumbs complex component PALS1, to KIF13B( 35673984).聽", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "3.5673984E7", "complex_components": ["AMOT", "ARHGAP17", "CAPZA1", "CAPZB", "CD2AP", "PALS1", "PATJ", "SH3KBP1", "AMOTL1", "AMOTL2", "MPDZ", "MPP7", "CDH11", "CTNNB1", "CTNND1", "Lats2", "NF2"], "pfam_ids": "PF12240", "domain_descriptions": ["Angiomotin", "Angiomotin", "C-terminal", "Angiomotin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000126016", "synonym": "KIAA1071", "ortholog_mouse": "Amot", "ortholog_c_elegans": "F59C12.3", "ortholog_xenopus": "amot", "ortholog_zebrafish": "amot", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.7631, "sd_percent_ciliated": 8.4097, "z_score": -0.6356, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7458, "sd_percent_ciliated": -2.7458, "z_score": -2.7458, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKEF1", "ensembl_id": "ENSG00000132623", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat and EF-hand domain containing 1 [Source:HGNC Symbol,Acc:HGNC:15803]", "functional_summary": "ankef1a, odf3l2a, and saxo2 have distinct distribution patterns within the kinocilium (37367482).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.7367482E7", "complex_components": {}, "pfam_ids": "PF12796", "domain_descriptions": ["EF-hand domain", "Ankyrin repeat", "EF-hand domain pair", "Ankyrin repeat-containing domain superfamily", "Ankyrin Repeat and EF-hand Domain-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000132623", "synonym": "ANKRD5, DJ839B4.6, FLJ21669", "ortholog_mouse": "Ankef1", "ortholog_xenopus": "ankef1", "ortholog_zebrafish": "ankef1a, ankef1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ANKH", "ensembl_id": "ENSG00000154122", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ANKH inorganic pyrophosphate transport regulator [Source:HGNC Symbol,Acc:HGNC:15492]", "omim_id": "605145", "functional_summary": "ANKH localized at cilial and basal body in re l tissues and re l epithelial cells, in addition to a centrosomal localisation in dividing mpkCCDcl4 cells. and postulate a sensory role at this location(19910700).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "1.99107E7", "complex_components": {}, "pfam_ids": "PF07260", "domain_descriptions": "Progressive ankylosis", "string_link": "https://string-db.org/network/9606/ENSG00000154122", "synonym": "ANK, CCAL2, CMDJ, CPPDD, HANK, SLC62A1", "ortholog_mouse": "Ank", "ortholog_xenopus": "ankh", "ortholog_zebrafish": "ankha, ankhb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.7115, "sd_percent_ciliated": 0.4079, "z_score": 0.2062 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.126, "sd_percent_ciliated": 0.126, "z_score": 0.126 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.5248, "sd_percent_ciliated": -0.5248, "z_score": -0.5248 } ] }, { "gene": "ANKMY2", "ensembl_id": "ENSG00000106524", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat and MYND domain containing 2 [Source:HGNC Symbol,Acc:HGNC:25370]", "functional_summary": "DAF-25(C. elegans ortholog of mammalian Ankmy2), which localizes to sensory cilia, is required for proper DAF-11 ciliary localization, mouse Ankmy2 interacts with guanylyl cyclase GC1 from ciliary photoreceptors, ciliary localization of DAF-25 itself is influenced in che-11 mutants (21124868)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1124868E7", "complex_components": {}, "pfam_ids": ["PF12796", "PF01753"], "domain_descriptions": ["Ankyrin repeat", "Zinc finger", "MYND-type", "Ankyrin repeat-containing domain superfamily", "Ankyrin repeat and MYND domain-containing protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000106524", "synonym": "DKFZP564O043, ZMYND20", "ortholog_mouse": "Ankmy2", "ortholog_c_elegans": "daf-25", "ortholog_xenopus": "ankmy2", "ortholog_zebrafish": "ankmy2a, ankmy2b", "ortholog_drosophila": "CG8003", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.5994, "sd_percent_ciliated": 4.6736, "z_score": -0.8978, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.78, "sd_percent_ciliated": 4.78, "z_score": 4.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0434, "sd_percent_ciliated": -0.0434, "z_score": -0.0434, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKRD11", "ensembl_id": "ENSG00000167522", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat domain containing 11 [Source:HGNC Symbol,Acc:HGNC:21316]", "omim_id": "611192", "functional_summary": "Mutations in the ANKRD11 gene cause Cornelia de Lange Syndrome (PMID: 25652421).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "25652421 ,25652421", "complex_components": ["ANKRD11", "HDAC3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000167522", "synonym": "ANCO-1, ANCO1, LZ16, T13", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ankrd11", "ortholog_xenopus": "ankrd11", "ortholog_zebrafish": "ankrd11", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.2473, "sd_percent_ciliated": 7.7315, "z_score": -0.9404, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 16.2, "sd_percent_ciliated": 16.2, "z_score": 16.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7656, "sd_percent_ciliated": -1.7656, "z_score": -1.7656, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKRD26", "ensembl_id": "ENSG00000107890", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "ankyrin repeat domain containing 26 [Source:HGNC Symbol,Acc:HGNC:29186]", "omim_id": "610855", "functional_summary": "Ankrd26-/- mice display hyperphagia and have defects in primary cilia in regions of the central nervous system that control appetite and energy homeostasis (24633808). With TALPID3 selectively orchestrates FBF1 localization and cilia gating (32366837)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology", "reference": "24633808, 30824690, 32366837", "complex_components": {}, "pfam_ids": ["PF12001", "PF00023", "PF14915", "PF12796"], "domain_descriptions": ["Domain of Not Reported function DUF3496", "Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "CCDC144C-like", "coiled-coil domain", "Ankyrin repeat domain-containing protein", "Coiled-coil domain-containing protein 144A/B/C"], "string_link": "https://string-db.org/network/9606/ENSG00000107890", "synonym": "KIAA1074, THC2", "ortholog_mouse": "Ankrd26", "ortholog_zebrafish": "si:ch211-272n13.3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.0643, "sd_percent_ciliated": 2.7977, "z_score": -0.7203 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.7, "sd_percent_ciliated": 4.7, "z_score": 4.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.5472, "sd_percent_ciliated": -0.5472, "z_score": -0.5472 } ] }, { "gene": "ANKRD35", "ensembl_id": "ENSG00000198483", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat domain 35 [Source:HGNC Symbol,Acc:HGNC:26323]", "functional_summary": "ANKRD35 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF12796", "PF00023"], "domain_descriptions": ["Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "Ankycorbin/UACA"], "string_link": "https://string-db.org/network/9606/ENSG00000198483", "synonym": "FLJ25124", "ortholog_mouse": "Ankrd35", "ortholog_xenopus": "ankrd35", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1, "sd_percent_ciliated": 1, "z_score": 1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1087, "sd_percent_ciliated": -1.1087, "z_score": -1.1087, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKRD45", "ensembl_id": "ENSG00000183831", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat domain 45 [Source:HGNC Symbol,Acc:HGNC:24786]", "omim_id": "618712", "functional_summary": "The expression pattern of ankrd45 in early zebrafish embryos was tissue specific with high enrichment in ciliated organs, suggesting that Ankrd45 possibly plays a role during cilia development (31208154). Mtmr11 and Ankrd45 are similarly uncharacterized and were found specifically at basal bodies(29180514).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "31208154 , 29180514", "complex_components": {}, "pfam_ids": "PF12796", "domain_descriptions": ["Ankyrin repeat", "Heat shock protein 70kD", "C-terminal domain superfamily", "Ankyrin repeat-containing domain superfamily", "Ankyrin Repeat and Cyclin-Dependent Kinase Inhibitor"], "string_link": "https://string-db.org/network/9606/ENSG00000183831", "synonym": "CT117, FLJ45235", "ortholog_mouse": "Ankrd45", "ortholog_xenopus": "ankrd45", "ortholog_zebrafish": "ankrd45", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ANKRD55", "ensembl_id": "ENSG00000164512", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "ankyrin repeat domain 55 [Source:HGNC Symbol,Acc:HGNC:25681]", "omim_id": "615189", "functional_summary": "ANKRD55 was detected at the basal body,In ciliated cells. ANKRD55 is a new component of the intraflagellar transport (IFT) particle, is important for ciliogenesis, and has a role in neural tube closure ()", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.03.18.584613", "complex_components": {}, "pfam_ids": ["PF00023", "PF12796"], "domain_descriptions": ["Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "Ankyrin Repeat and Cyclin-Dependent Kinase Inhibitor"], "string_link": "https://string-db.org/network/9606/ENSG00000164512", "synonym": "FLJ11795", "ortholog_mouse": "Ankrd55", "ortholog_xenopus": "ankrd55", "ortholog_zebrafish": "ankrd55", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.737, "sd_percent_ciliated": 0.737, "z_score": 0.737, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.466, "sd_percent_ciliated": -3.466, "z_score": -3.466, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKRD65", "ensembl_id": "ENSG00000235098", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat domain 65 [Source:HGNC Symbol,Acc:HGNC:42950]", "functional_summary": "ANKRD65 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF12796", "PF00023"], "domain_descriptions": ["Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "Dendritic Spine Regulation and Scaffold"], "string_link": "https://string-db.org/network/9606/ENSG00000235098", "ortholog_mouse": "Ankrd65", "ortholog_xenopus": "ankrd65, LOC101732478", "ortholog_zebrafish": "ankrd67", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.436, "sd_percent_ciliated": 0.436, "z_score": 0.436, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ANKS1A", "ensembl_id": "ENSG00000064999", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat and sterile alpha motif domain containing 1A [Source:HGNC Symbol,Acc:HGNC:20961]", "omim_id": "608994", "functional_summary": "ANKS1A has role in the polarization of the basal foot, regulates FOP to build and maintain the polarity of subdistal appendages, ANKS1A deficiency leads to severe degeneration of the basal foot in aged mice and the detachment of cilia from their basal bodies (33504787).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3504787E7", "complex_components": ["ANKS1A", "EPHA8", "RINL"], "pfam_ids": ["PF00640", "PF00536", "PF12796", "PF00023", "PF13857"], "domain_descriptions": ["Sterile alpha motif domain", "Ankyrin repeat", "PTB/PI domain", "PH-like domain superfamily", "Sterile alpha motif/pointed domain superfamily", "Ankyrin repeat and SAM domain-containing protein 1/Caskin", "Ankyrin repeat-containing domain superfamily", "Ankyrin repeat and SAM domain-containing protein 1", "SAM repeat 1", "Ankyrin repeat and SAM domain-containing protein 1", "SAM repeat 2"], "string_link": "https://string-db.org/network/9606/ENSG00000064999", "synonym": "ANKS1, KIAA0229", "ortholog_mouse": "Anks1", "ortholog_c_elegans": "C11E4.6", "ortholog_xenopus": "anks1a", "ortholog_zebrafish": "anks1ab", "ortholog_drosophila": "CG11168, CG4393", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.84, "sd_percent_ciliated": 3.84, "z_score": 3.84, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3831, "sd_percent_ciliated": -6.3831, "z_score": -6.3831, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKS3", "ensembl_id": "ENSG00000168096", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat and sterile alpha motif domain containing 3 [Source:HGNC Symbol,Acc:HGNC:29422]", "omim_id": "617310", "functional_summary": "Interacts with ANKS6 through sterile alpha motif (SAM), localised to re l cilia in mice", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.6327442E7", "complex_components": {}, "pfam_ids": ["PF00536", "PF12796", "PF13637", "PF00023"], "domain_descriptions": ["Sterile alpha motif domain", "Ankyrin repeat", "Sterile alpha motif/pointed domain superfamily", "Ankyrin repeat-containing domain superfamily", "Ankyrin repeat and SAM domain-containing protein 3", "SAM domain"], "string_link": "https://string-db.org/network/9606/ENSG00000168096", "synonym": "FLJ32345, FLJ32767, KIAA1977", "ortholog_mouse": "Anks3", "ortholog_c_elegans": "mlt-3", "ortholog_xenopus": "anks3", "ortholog_zebrafish": "anks3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.27, "sd_percent_ciliated": 1.27, "z_score": 1.27, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.426, "sd_percent_ciliated": 1.426, "z_score": 1.426, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANKS6", "ensembl_id": "ENSG00000165138", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Not Reported", "description": "ankyrin repeat and sterile alpha motif domain containing 6 [Source:HGNC Symbol,Acc:HGNC:26724]", "omim_id": "615370", "functional_summary": "Ciliopathy gene NPHP16. Found in Inv compartment of cilia, where it undergoes phosphorylation 29395339", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "23793029, 29395339, 21119215, 23793029 ,23793029; 21119215", "complex_components": ["ANKS6", "INVS", "NEK8", "NPHP3"], "pfam_ids": ["PF00536", "PF12796", "PF00023"], "domain_descriptions": ["Sterile alpha motif domain", "Sterile alpha motif/pointed domain superfamily", "Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "Ankyrin repeat and KH/SAM domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000165138", "synonym": "ANKRD14, FLJ36928, NPHP16, SAMD6", "ciliopathy": "Nephronophthisis; Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Anks6", "ortholog_c_elegans": "mlt-2", "ortholog_xenopus": "anks6", "ortholog_zebrafish": "anks6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.49, "sd_percent_ciliated": 3.49, "z_score": 3.49, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6811, "sd_percent_ciliated": -0.6811, "z_score": -0.6811, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANO1", "ensembl_id": "ENSG00000131620", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "anoctamin 1 [Source:HGNC Symbol,Acc:HGNC:21625]", "omim_id": "610108", "functional_summary": "TMEM16A. Ca2+-activated Cl- channel .Regulates primary ciliogenesis.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4694595E7", "complex_components": ["ANO1", "KCNE1", "KCNE5", "CFTR", "COPB1"], "pfam_ids": ["PF16178", "PF04547"], "domain_descriptions": ["Anoctamin", "Anoctamin", "dimerisation domain", "Anoctamin", "transmembrane domain"], "string_link": "https://string-db.org/network/9606/ENSG00000131620", "synonym": "DOG1, FLJ10261, ORAOV2, TAOS2, TMEM16A", "ortholog_mouse": "Ano1", "ortholog_c_elegans": "anoh-1", "ortholog_xenopus": "ano1", "ortholog_zebrafish": "ano1a", "ortholog_drosophila": "CG10353, subdued", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.165, "sd_percent_ciliated": 0.165, "z_score": 0.165, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6989, "sd_percent_ciliated": -4.6989, "z_score": -4.6989, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANO10", "ensembl_id": "ENSG00000160746", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "anoctamin 10 [Source:HGNC Symbol,Acc:HGNC:25519]", "omim_id": "613726", "functional_summary": "ANO10 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF04547", "domain_descriptions": ["Anoctamin", "Anoctamin", "transmembrane domain"], "string_link": "https://string-db.org/network/9606/ENSG00000160746", "synonym": "FLJ10375, MGC47890, SCAR10, TMEM16K", "ortholog_mouse": "Ano10", "ortholog_xenopus": "ano10", "ortholog_zebrafish": "ano10a, ano10b", "ortholog_drosophila": "Axs", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.03, "sd_percent_ciliated": 3.03, "z_score": 3.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9682, "sd_percent_ciliated": -0.9682, "z_score": -0.9682, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANO2", "ensembl_id": "ENSG00000047617", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "anoctamin 2 [Source:HGNC Symbol,Acc:HGNC:1183]", "omim_id": "610109", "functional_summary": "Localises to cilia of olfactory epithelium.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9561302E7", "complex_components": {}, "pfam_ids": ["PF16178", "PF04547"], "domain_descriptions": ["Anoctamin", "Anoctamin", "dimerisation domain", "Anoctamin", "transmembrane domain"], "string_link": "https://string-db.org/network/9606/ENSG00000047617", "synonym": "C12ORF3, TMEM16B", "ortholog_mouse": "Ano2", "ortholog_c_elegans": "anoh-1", "ortholog_xenopus": "ano2", "ortholog_zebrafish": "ano2a, ano2b", "ortholog_drosophila": "subdued", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0496, "sd_percent_ciliated": -0.0496, "z_score": -0.0496, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANO3", "ensembl_id": "ENSG00000134343", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "anoctamin 3 [Source:HGNC Symbol,Acc:HGNC:14004]", "omim_id": "610110", "functional_summary": "the calcium-dependent regulator of potassium channels ANO3 localized in cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF04547", "PF16178"], "domain_descriptions": ["Anoctamin", "Anoctamin", "dimerisation domain", "Anoctamin", "transmembrane domain"], "string_link": "https://string-db.org/network/9606/ENSG00000134343", "synonym": "C11ORF25, DYT23, GENX-3947, TMEM16C", "ortholog_mouse": "Ano3", "ortholog_c_elegans": "anoh-1", "ortholog_xenopus": "ano3", "ortholog_zebrafish": "ano3", "ortholog_drosophila": "CG6938", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.585, "sd_percent_ciliated": 0.585, "z_score": 0.585, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2701, "sd_percent_ciliated": -1.2701, "z_score": -1.2701, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ANOS1", "ensembl_id": "ENSG00000011201", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "anosmin 1 [Source:HGNC Symbol,Acc:HGNC:6211]", "omim_id": "300836", "functional_summary": "Anosmin-1 (A1) is an extracellular matrix protein that binds to FGF receptor 1 (FGFR1) to exert its biological effects( 25300351).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, ECM & connective tissue", "reference": "25300351, 36859276 ,36859276", "complex_components": ["ANOS1", "FGFR1"], "pfam_ids": ["PF17869", "PF00095", "PF00041"], "domain_descriptions": ["Fibronectin type III", "WAP-type 'four-disulfide core' domain", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Elafin-like superfamily", "Anosmin-1", "cysteine rich domain", "Anosmin-1"], "string_link": "https://string-db.org/network/9606/ENSG00000011201", "synonym": "ADMLX, KAL, KAL1, KALIG-1, WFDC19", "ciliopathy": "Kallmann Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_c_elegans": "kal-1", "ortholog_xenopus": "anos1", "ortholog_zebrafish": "anos1a, anos1b", "ortholog_drosophila": "Kal1", "screens": {} }, { "gene": "ANXA1", "ensembl_id": "ENSG00000135046", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "annexin A1 [Source:HGNC Symbol,Acc:HGNC:533]", "omim_id": "151690", "functional_summary": "In frog olfactory epithelia, ANXA isoforms 1, 2, and 5 bind to dicalcin in a Ca2+-dependent manner (17714509). ANXA1, ANXA2, ANXA5, S100A5, PMCA1, and NCKX4 in the cilia of mouse OSNs (24748648).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17714509, 24748648", "complex_components": ["ANXA1", "PIK3CA"], "pfam_ids": "PF00191", "domain_descriptions": ["Annexin", "Annexin A1", "Annexin repeat", "conserved site", "Annexin repeat", "Annexin superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000135046", "synonym": "ANX1, LPC1", "ortholog_mouse": "Anxa1", "ortholog_c_elegans": "nex-3", "ortholog_xenopus": "anxa1, anxa1.3", "ortholog_zebrafish": "anxa1a, anxa1b, anxa1c, anxa1d", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 22.9848, "sd_percent_ciliated": 4.5933, "z_score": -1.8203 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.53, "sd_percent_ciliated": 1.53, "z_score": 1.53 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8302, "sd_percent_ciliated": -2.8302, "z_score": -2.8302 } ] }, { "gene": "ANXA2", "ensembl_id": "ENSG00000182718", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "annexin A2 [Source:HGNC Symbol,Acc:HGNC:537]", "omim_id": "151740", "functional_summary": "ANXA2 together with S100A10 protein interacts with + (12050667) , K+ (12198146), and Ca2+ channels (12660155) to regulate their translocation and function. In frog olfactory epithelia, ANXA isoforms 1, 2, and 5 bind to dicalcin in a Ca2+-dependent manner(17714509). ANXA1, ANXA2, ANXA5, S100A5, PMCA1, and NCKX4 in the cilia of mouse OSNs (24748648).", "localization": "cilia, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "12198146 , 12050667 , 12660155 , 17714509, 24748648", "complex_components": ["AHNAK", "ANXA2", "S100a10", "ABCB1", "RACK1", "SRC", "MMP2", "WFDC2", "PCSK9"], "pfam_ids": "PF00191", "domain_descriptions": ["Annexin", "Annexin A2", "Annexin repeat", "conserved site", "Annexin repeat", "Annexin superfamily", "Annexin A5"], "string_link": "https://string-db.org/network/9606/ENSG00000182718", "synonym": "ANX2, ANX2L4, CAL1H, LIP2, LPC2D", "ortholog_mouse": "Anxa2", "ortholog_xenopus": "anxa2", "ortholog_zebrafish": "anxa2a, anxa2b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.9604, "sd_percent_ciliated": 9.8629, "z_score": 0.721 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.901, "sd_percent_ciliated": 0.901, "z_score": 0.901 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9344, "sd_percent_ciliated": -5.9344, "z_score": -5.9344 } ] }, { "gene": "ANXA5", "ensembl_id": "ENSG00000164111", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "annexin A5 [Source:HGNC Symbol,Acc:HGNC:543]", "omim_id": "131230", "functional_summary": "In frog olfactory epithelia, ANXA isoforms 1, 2, and 5 bind to dicalcin in a Ca2+-dependent manner (17714509). ANXA5 up-regulated in mouse OE pulse-exposed to the odorant octa l (18336002). ANXA1, ANXA2, ANXA5, S100A5, PMCA1, and NCKX4 in the cilia of mouse OSNs (24748648). ANXA1, ANXA2, ANXA5, S100A5, PMCA1, and NCKX4 in the cilia of mouse OSNs (24748648).", "localization": "cilia, Autophagosomes, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "17714509, 18336002, 24748648", "complex_components": {}, "pfam_ids": "PF00191", "domain_descriptions": ["Annexin", "Annexin A5", "Annexin repeat", "conserved site", "Annexin repeat", "Annexin superfamily", "Annexin A4"], "string_link": "https://string-db.org/network/9606/ENSG00000164111", "synonym": "ANX5, CPB-I, ENX2, PAP-I, RPRGL3, VAC-ALPH", "ortholog_mouse": "Anxa5", "ortholog_c_elegans": "nex-2", "ortholog_xenopus": "anxa5", "ortholog_zebrafish": "anxa5a, anxa5b", "ortholog_drosophila": "AnxB9", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.3593, "sd_percent_ciliated": 1.4383, "z_score": -1.048 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.709, "sd_percent_ciliated": 0.709, "z_score": 0.709 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3144, "sd_percent_ciliated": 0.3144, "z_score": 0.3144 } ] }, { "gene": "ANXA6", "ensembl_id": "ENSG00000197043", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "annexin A6 [Source:HGNC Symbol,Acc:HGNC:544]", "omim_id": "114070", "functional_summary": "ANXA6 has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["A2M", "ANXA6"], "pfam_ids": "PF00191", "domain_descriptions": ["Annexin", "Annexin A6", "Annexin repeat", "conserved site", "Annexin repeat", "Annexin superfamily", "Annexin A4"], "string_link": "https://string-db.org/network/9606/ENSG00000197043", "synonym": "ANX6", "ortholog_mouse": "Anxa6", "ortholog_c_elegans": "nex-3, nex-4", "ortholog_xenopus": "anxa6", "ortholog_zebrafish": "anxa6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.1323, "sd_percent_ciliated": 3.1127, "z_score": 0.3784 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.789, "sd_percent_ciliated": 0.789, "z_score": 0.789 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1426, "sd_percent_ciliated": -0.1426, "z_score": -0.1426 } ] }, { "gene": "AP4E1", "ensembl_id": "ENSG00000081014", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adaptor related protein complex 4 subunit epsilon 1 [Source:HGNC Symbol,Acc:HGNC:573]", "omim_id": "607244", "functional_summary": "Ap4e1 does not have an established role in cilia, the predicted protein interaction with OCRL1 is suggestive that Ap4e1 may be involved in ciliary assembly as OCRL1 is known to be involved in primary ciliary assembly( 25300351).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5300351E7", "complex_components": ["AP4B1", "AP4E1", "AP4M1", "AP4S1"], "pfam_ids": ["PF01602", "PF14807"], "domain_descriptions": ["Clathrin/coatomer adaptor", "adaptin-like", "N-terminal", "Armadillo-like helical", "Armadillo-type fold", "Adaptor protein complex AP-4", "epsilon subunit", "AP-4 complex subunit epsilon-1", "C-terminal", "Adaptor Complexes Large Subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000081014", "synonym": "AP-4-EPSILON, SPG51", "ortholog_mouse": "Ap4e1", "ortholog_xenopus": "ap4e1", "ortholog_zebrafish": "ap4e1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.7192, "sd_percent_ciliated": 1.8698, "z_score": -0.5198, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1315, "sd_percent_ciliated": -4.1315, "z_score": -4.1315, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "APC", "ensembl_id": "ENSG00000134982", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "APC regulator of WNT signaling pathway [Source:HGNC Symbol,Acc:HGNC:583]", "omim_id": "611731", "functional_summary": "Inhibition of APC/C function by knockdown of the A PC2 subunit disrupts the polarity of motile cilia and alters the directio lity of the fluid movement along the epidermis of the Xenopus embryo (19805045).APC–Cdc20 complex acts as a negative regulator of ciliary length and is required for proper ciliary resorption when quiescent cells re-enter the cell cycle.Inhibition of APC2 or Cdc20 caused longer cilia in quiescent cells.Overexpression of Cdc20 abolishes ciliogenesis entirely (PMID: 25139956).", "localization": "basal body, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.98050452513995E15", "complex_components": ["APC", "SCRIB", "IQGAP1", "CLIP1", "DLG4", "AXIN1", "CTNNB1", "TUBA1A", "TUBG1", "RAC1", "CDC42", "GSK3B"], "pfam_ids": ["PF16636", "PF05956", "PF05923", "PF18797", "PF16633", "PF16634", "PF05924", "PF05937", "PF11414", "PF16689", "PF16630", "PF16635", "PF05972", "PF16629", "PF00514"], "domain_descriptions": ["Armadillo", "Adenomatous polyposis coli protein repeat", "SAMP", "EB-1 binding", "Adenomatous polyposis coli protein basic domain", "Adenomatous polyposis coli protein", "15 residue repeat", "Armadillo-like helical", "Armadillo-type fold", "Adenomatous polyposis coli (APC) family", "Adenomatous polyposis coli protein", "Adenomatous polyposis coli", "N-terminal dimerisation domain", "APC", "N-terminal coiled-coil domain superfamily", "Adenomatous polyposis coli (APC) repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000134982", "synonym": "DP2, DP2.5, DP3, PPP1R46", "ortholog_mouse": "Apc", "ortholog_c_elegans": "apr-1", "ortholog_xenopus": "apc", "ortholog_zebrafish": "apc", "ortholog_drosophila": "Apc, Apc2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.3021, "sd_percent_ciliated": 6.4588, "z_score": 1.1259 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.351, "sd_percent_ciliated": 0.351, "z_score": 0.351 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.1716, "sd_percent_ciliated": -5.1716, "z_score": -5.1716 } ] }, { "gene": "APC2", "ensembl_id": "ENSG00000115266", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "APC regulator of WNT signaling pathway 2 [Source:HGNC Symbol,Acc:HGNC:24036]", "omim_id": "612034", "functional_summary": "APC subunit 2 (APC2) is localized to the basal body of the ciliated cells (25139956), consistent with the previous report that APC is localized to the basal body of motile cilia in the Xenopus epidermis (Ganner et al., 2009).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "25139956, 19805045", "complex_components": {}, "pfam_ids": ["PF16689", "PF11414", "PF18797", "PF05924", "PF05956", "PF05923", "PF00514", "PF16629"], "domain_descriptions": ["Adenomatous polyposis coli (APC) family", "Adenomatous polyposis coli protein", "Adenomatous polyposis coli", "N-terminal dimerisation domain", "APC", "N-terminal coiled-coil domain superfamily", "Armadillo", "Adenomatous polyposis coli protein repeat", "SAMP", "Adenomatous polyposis coli protein basic domain", "Armadillo-like helical", "Armadillo-type fold", "Adenomatous polyposis coli (APC) repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000115266", "synonym": "APCL", "ortholog_mouse": "Apc2", "ortholog_c_elegans": "apr-1", "ortholog_xenopus": "apc2", "ortholog_zebrafish": "apc2", "ortholog_drosophila": "Apc, Apc2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 5.7389, "z_score": 1.3276, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 64.7899, "z_score": 3.2446, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.0286 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.749, "z_score": 0.749, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.749 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2083, "z_score": -4.2083, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.2083 } ] }, { "gene": "APLNR", "ensembl_id": "ENSG00000134817", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "apelin receptor [Source:HGNC Symbol,Acc:HGNC:339]", "omim_id": "600052", "functional_summary": "During gastrulation and early somitogenesis, aplnra/b loss of function results in heart and liver LR asymmetry defects, accompanied by disturbed KV/cilia morphogenesis and disrupted left-sided Nodal/spaw expression in the LPM. In this process, only aplnra loss of function results in KV/cilia morphogenesis defect ( 31223282).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "3.1223282E7", "complex_components": ["APLNR", "OPRL1", "BDKRB2", "HCRTR1", "NTSR1", "BDKRB1", "OPRK1"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Apelin receptor", "GPCR", "rhodopsin-like", "7TM", "C-C chemokine receptor type 1-9-like"], "string_link": "https://string-db.org/network/9606/ENSG00000134817", "synonym": "AGTRL1, APJ, APJR, FLJ90771", "ortholog_mouse": "Aplnr", "ortholog_xenopus": "aplnr", "ortholog_zebrafish": "aplnra, aplnrb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.751, "sd_percent_ciliated": 0.751, "z_score": 0.751, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.6959, "sd_percent_ciliated": -6.6959, "z_score": -6.6959, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "APOE", "ensembl_id": "ENSG00000130203", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "apolipoprotein E [Source:HGNC Symbol,Acc:HGNC:613]", "omim_id": "107741", "functional_summary": "Removing endothelial cilia increased atherosclerosis in Apoe−/− mice fed a high‐fat, high‐cholesterol diet, indicating that cilia protect against atherosclerosis( 26769565).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.6769565E7", "complex_components": ["APOE", "BCHE", "APP", "ABCA1"], "pfam_ids": "PF01442", "domain_descriptions": ["Apolipoprotein A/E", "Apolipoprotein A1/A4/E"], "string_link": "https://string-db.org/network/9606/ENSG00000130203", "synonym": "AD2", "ortholog_mouse": "Apoe", "ortholog_xenopus": "apoe", "ortholog_zebrafish": "apoea, apoeb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.765, "sd_percent_ciliated": 10.0747, "z_score": -0.7565, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.33, "sd_percent_ciliated": 5.33, "z_score": 5.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7841, "sd_percent_ciliated": -2.7841, "z_score": -2.7841, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "APP", "ensembl_id": "ENSG00000142192", "overexpression_effects": "Shorter", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "amyloid beta precursor protein [Source:HGNC Symbol,Acc:HGNC:620]", "omim_id": "104760", "functional_summary": "APP localizes to primary cilia and A尾 treatment results in interrupts canonical Shh sig l transduction and distorted primary cilia structure (30140428). APP localized in motile and non-motile (sensory) cilia in zebrafish, mouse and human samples. Zebrafish App homologues are expressed by ciliated cells and become localized at the membrane of cilia in the otic vesicle, the sal epithelium, and the brain ventricles of zebrafish embryos (345803559.", "localization": "cilia, Autophagosomes, Cytosol, Endosome, Microtubules, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation", "reference": "30140428 , 34580355", "complex_components": ["APBB1", "APP", "LRP1", "TOMM40", "TIMM23", "TNFRSF21", "VDAC1", "PSEN1", "PSEN2", "KAT5", "MED12", "MED23", "MED4", "FOXO3", "FOXO1", "FOXO4", "ACHE", "BCHE", "GRIN1", "GRIN2A", "GRIN2B", "NETO1", "APBB2", "NCSTN", "TPPP", "SNCA", "TUBB5", "APOE"], "pfam_ids": ["PF02177", "PF03494", "PF12925", "PF10515", "PF12924", "PF00014"], "domain_descriptions": ["Amyloidogenic glycoprotein", "extracellular", "Amyloidogenic glycoprotein", "Amyloidogenic glycoprotein", "copper-binding", "PH-like domain superfamily", "Amyloidogenic glycoprotein", "amyloid-beta peptide", "Amyloidogenic glycoprotein", "heparin-binding", "Beta-amyloid precursor protein C-terminal", "Amyloidogenic glycoprotein", "copper-binding domain conserved site", "Amyloidogenic glycoprotein", "intracellular domain", "conserved site", "Amyloidogenic glycoprotein", "E2 domain", "E2 domain superfamily", "Amyloidogenic glycoprotein", "heparin-binding domain superfamily", "Amyloidogenic glycoprotein", "copper-binding domain superfamily", "Amyloidogenic glycoprotein", "amyloid-beta peptide superfamily", "Pancreatic trypsin inhibitor Kunitz domain", "Proteinase inhibitor I2", "Kunitz", "conserved site", "Pancreatic trypsin inhibitor Kunitz domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000142192", "synonym": "AD1, ALPHA-SAPP", "ortholog_mouse": "App", "ortholog_c_elegans": "apl-1", "ortholog_xenopus": "app", "ortholog_zebrafish": "appa, appb", "ortholog_drosophila": "Appl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.0565, "sd_percent_ciliated": 0.1887, "z_score": -0.7212, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.44, "sd_percent_ciliated": 0.44, "z_score": 0.44, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2144, "sd_percent_ciliated": -0.2144, "z_score": -0.2144, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "APPL1", "ensembl_id": "ENSG00000157500", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 [Source:HGNC Symbol,Acc:HGNC:24035]", "omim_id": "604299", "functional_summary": "Ocrl1 co-localized with the endosomal proteins IPIP27 or Appl1 (22228094).", "localization": "cilia, basal body, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.2228094E7", "complex_components": ["AKT1", "APPL1", "AR", "HDAC3"], "pfam_ids": ["PF00169", "PF00640", "PF16746"], "domain_descriptions": ["Pleckstrin homology domain", "BAR domain", "PTB/PI domain", "PH-like domain superfamily", "AH/BAR domain superfamily", "DCC-interacting protein 13-alpha", "BAR domain", "DCC-interacting protein 13-alpha/beta", "DCC-interacting protein 13-alpha/beta", "PH domain", "DCC-interacting protein 13-alpha/beta", "PTB domain"], "string_link": "https://string-db.org/network/9606/ENSG00000157500", "synonym": "APPL", "ortholog_mouse": "Appl1", "ortholog_xenopus": "appl1", "ortholog_zebrafish": "appl1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.06, "sd_percent_ciliated": 1.06, "z_score": 1.06, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2978, "sd_percent_ciliated": 0.2978, "z_score": 0.2978, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AQP1", "ensembl_id": "ENSG00000240583", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aquaporin 1 (Colton blood group) [Source:HGNC Symbol,Acc:HGNC:633]", "omim_id": "107776", "functional_summary": "In the efferent ducts, AQP-1 was expressed on the microvilli, basolateral plasma membranes, and apical endosomes of the nonciliated cells and cilia of ciliated cells (12002438).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.2002438E7", "complex_components": "AQP1", "pfam_ids": "PF00230", "domain_descriptions": ["Major intrinsic protein", "Major intrinsic protein", "conserved site", "Aquaporin-like", "Aquaporin 1", "Aquaporin transporter"], "string_link": "https://string-db.org/network/9606/ENSG00000240583", "synonym": "CHIP28, CO", "ortholog_mouse": "Aqp1", "ortholog_xenopus": "aqp1", "ortholog_zebrafish": "aqp1a.1, aqp1a.2", "ortholog_drosophila": "bib, Drip, Eglp2, Eglp4, Prip", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.6104, "sd_percent_ciliated": 5.4013, "z_score": 0.9209 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.02, "sd_percent_ciliated": 3.02, "z_score": 3.02 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.1012, "sd_percent_ciliated": -4.1012, "z_score": -4.1012 } ] }, { "gene": "AQP2", "ensembl_id": "ENSG00000167580", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "aquaporin 2 [Source:HGNC Symbol,Acc:HGNC:634]", "omim_id": "107777", "functional_summary": "AQP2 localizes to cilia and in a subapical compartment in cilia (+) cells and structural or functio l loss of cilia leads to abnormal trafficking of AQP2/V2R leading to enhanced salt and water absorption(22205228).", "localization": "cilia, Endosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "2.2205228E7", "complex_components": {}, "pfam_ids": "PF00230", "domain_descriptions": ["Major intrinsic protein", "Major intrinsic protein", "conserved site", "Aquaporin-like", "Aquaporin transporter"], "string_link": "https://string-db.org/network/9606/ENSG00000167580", "ortholog_mouse": "Aqp2", "ortholog_xenopus": "aqp2, aqp2l", "ortholog_drosophila": "Drip, Eglp1, Eglp2, Eglp4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.4513, "sd_percent_ciliated": 0.0689, "z_score": 1.144 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8383, "sd_percent_ciliated": -1.8383, "z_score": -1.8383 } ] }, { "gene": "AQP3", "ensembl_id": "ENSG00000165272", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aquaporin 3 (Gill blood group) [Source:HGNC Symbol,Acc:HGNC:636]", "omim_id": "600170", "functional_summary": "In oviduct, AQP1, AQP3, AQP6, and AQP9 were strongly expressed especially in ciliated colum r epithelial cells . AQP1, AQP3, AQP6, and AQP9 were localized mainly to cilia and lumi l surface of epithelial cells with a subtle subtype-specific difference (33110949).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3110949E7", "complex_components": {}, "pfam_ids": "PF00230", "domain_descriptions": ["Major intrinsic protein", "Major intrinsic protein", "conserved site", "Aquaporin-like", "Aquaporin 3", "Major Intrinsic Protein/Aquaporin"], "string_link": "https://string-db.org/network/9606/ENSG00000165272", "synonym": "GIL", "ortholog_mouse": "Aqp3", "ortholog_c_elegans": "aqp-1, aqp-2, aqp-3, aqp-7, aqp-8", "ortholog_xenopus": "aqp3", "ortholog_zebrafish": "aqp3a, aqp3b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.1649, "sd_percent_ciliated": 7.3955, "z_score": -1.3139 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.7, "sd_percent_ciliated": 1.7, "z_score": 1.7 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5186, "sd_percent_ciliated": -2.5186, "z_score": -2.5186 } ] }, { "gene": "AQP5", "ensembl_id": "ENSG00000161798", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aquaporin 5 [Source:HGNC Symbol,Acc:HGNC:638]", "omim_id": "600442", "functional_summary": "In oviduct, AQP1, AQP3, AQP6, and AQP9 were strongly expressed especially in ciliated colum r epithelial cells . AQP1, AQP3, AQP6, and AQP9 were localized mainly to cilia and lumi l surface of epithelial cells with a subtle subtype-specific difference (33110949).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.3110949E7", "complex_components": {}, "pfam_ids": "PF00230", "domain_descriptions": ["Major intrinsic protein", "Major intrinsic protein", "conserved site", "Aquaporin-like", "Aquaporin 5", "Aquaporin transporter"], "string_link": "https://string-db.org/network/9606/ENSG00000161798", "ortholog_mouse": "Aqp5", "ortholog_xenopus": "aqp5", "ortholog_drosophila": "bib, Drip, Eglp1, Eglp2, Eglp4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.2722, "sd_percent_ciliated": 5.3538, "z_score": -0.9374 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.505, "sd_percent_ciliated": 0.505, "z_score": 0.505 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.178, "sd_percent_ciliated": -2.178, "z_score": -2.178 } ] }, { "gene": "AQP6", "ensembl_id": "ENSG00000086159", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aquaporin 6 [Source:HGNC Symbol,Acc:HGNC:639]", "omim_id": "601383", "functional_summary": "In oviduct, AQP1, AQP3, AQP6, and AQP9 were strongly expressed especially in ciliated colum r epithelial cells . AQP1, AQP3, AQP6, and AQP9 were localized mainly to cilia and lumi l surface of epithelial cells with a subtle subtype-specific difference (33110949).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3110949E7", "complex_components": {}, "pfam_ids": "PF00230", "domain_descriptions": ["Major intrinsic protein", "Aquaporin 6", "Aquaporin-like", "Aquaporin transporter", "Major intrinsic protein", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000086159", "synonym": "AQP2L", "ortholog_mouse": "Aqp6", "ortholog_xenopus": "aqp5", "ortholog_drosophila": "Eglp1, Eglp2, Eglp4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.3992, "sd_percent_ciliated": 8.8112, "z_score": 1.2588 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.6, "sd_percent_ciliated": 3.6, "z_score": 3.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8587, "sd_percent_ciliated": -1.8587, "z_score": -1.8587 } ] }, { "gene": "AQP9", "ensembl_id": "ENSG00000103569", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "aquaporin 9 [Source:HGNC Symbol,Acc:HGNC:643]", "omim_id": "602914", "functional_summary": "AQP1, AQP3, AQP6, and AQP9 were localized mainly to cilia and lumi l surface of epithelial cells with a subtle subtype-specific difference (33110949).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3110949E7", "complex_components": {}, "pfam_ids": "PF00230", "domain_descriptions": ["Major intrinsic protein", "Aquaporin 9", "Major intrinsic protein", "conserved site", "Aquaporin-like", "Major Intrinsic Protein/Aquaporin"], "string_link": "https://string-db.org/network/9606/ENSG00000103569", "synonym": "HST17287, SSC1", "ortholog_mouse": "Aqp9", "ortholog_c_elegans": "aqp-1, aqp-2, aqp-3, aqp-7, aqp-8", "ortholog_xenopus": "aqp9", "ortholog_zebrafish": "aqp9a, aqp9b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.3557, "sd_percent_ciliated": 4.8142, "z_score": 1.1324 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9235, "sd_percent_ciliated": -0.9235, "z_score": -0.9235 } ] }, { "gene": "ARF4", "ensembl_id": "ENSG00000168374", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "ARF GTPase 4 [Source:HGNC Symbol,Acc:HGNC:655]", "omim_id": "601177", "functional_summary": "Involved in ciliary targeting of rhodopsin and other proteins with VxPx motif. 19153612. Targets proteins to cilia in association with ASAP1, RAB11 and RAB8 22983554. Dispensable for ciliogenesis. Expression of dominant negative Arf4 reduced the percent of ciliated cells (Figure S1B) and ciliary length (Figure S1C). Surprisingly, over-expression of any Arf4 constructs completely inhibited CTS trafficking to the cilium (PMID: 24586199). Expression of dominant negative Arf4 reduced the percent of ciliated cells (Figure S1B) and ciliary length (Figure S1C). Surprisingly, over-expression of any Arf4 constructs completely inhibited CTS trafficking to the cilium (Figure S1D). These data indicate that increases in Arf4 levels prevent ciliary trafficking of the CTS possibly by sequestering it in the cytoplasm.", "localization": "Ciliary associated gene, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "19153612, 22983554,24586199 ,31068062", "complex_components": ["ARF4", "ASAP1", "PKD1"], "pfam_ids": "PF00025", "domain_descriptions": ["Small GTP-binding domain", "Small GTPase superfamily", "ARF/SAR type", "Small GTPase superfamily", "ARF type", "P-loop containing nucleoside triphosphate hydrolase", "ADP-ribosylation factor 1-5"], "string_link": "https://string-db.org/network/9606/ENSG00000168374", "synonym": "ARF2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Arf4", "ortholog_c_elegans": "arf-5", "ortholog_zebrafish": "arf4a, arf4b", "ortholog_drosophila": "Arf4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.5054, "sd_percent_ciliated": 2.8891, "z_score": 0.5447, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.99, "sd_percent_ciliated": 4.99, "z_score": 4.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9177, "sd_percent_ciliated": -2.9177, "z_score": -2.9177, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARFGAP1", "ensembl_id": "ENSG00000101199", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ARF GTPase activating protein 1 [Source:HGNC Symbol,Acc:HGNC:15852]", "omim_id": "608377", "functional_summary": "ARFGAP1 has localized in primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF01412", "domain_descriptions": ["Arf GTPase activating protein", "ARFGAP/RecO-like zinc finger", "ArfGAP domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101199", "synonym": "ARF1GAP, BA261N11.3, FLJ10767", "ortholog_mouse": "Arfgap1", "ortholog_c_elegans": "K02B12.7", "ortholog_xenopus": "arfgap1", "ortholog_zebrafish": "arfgap1", "ortholog_drosophila": "ArfGAP1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.1559, "sd_percent_ciliated": 1.8017, "z_score": 0.987 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.563, "sd_percent_ciliated": 0.563, "z_score": 0.563 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.6952, "sd_percent_ciliated": -4.6952, "z_score": -4.6952 } ] }, { "gene": "ARHGAP1", "ensembl_id": "ENSG00000175220", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "Rho GTPase activating protein 1 [Source:HGNC Symbol,Acc:HGNC:673]", "omim_id": "602732", "functional_summary": "Focused siRNA screen on these 6 candidate ARHGAPs (ARHGAP1, -5, -19, -21, -29, -35) conducted in control cells (UCL93), achieving knockdown of greater than 80% by qPCR. Of note, knockdown of ARHGAP5, -29, and -35 but not ARHGAP1, -19, and -21 was found to significantly reduce ciliogenesis (PMID: 32663194).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.2663194E7", "complex_components": {}, "pfam_ids": ["PF13716", "PF00620"], "domain_descriptions": ["Rho GTPase-activating protein domain", "CRAL-TRIO lipid binding domain", "Rho GTPase activation protein", "CRAL-TRIO lipid binding domain superfamily", "Rho GTPase-activating protein 1", "RhoGAP domain"], "string_link": "https://string-db.org/network/9606/ENSG00000175220", "synonym": "CDC42GAP, P50RHOGAP, RHOGAP", "ortholog_mouse": "Arhgap1", "ortholog_c_elegans": "rga-1", "ortholog_xenopus": "arhgap1", "ortholog_zebrafish": "arhgap1", "ortholog_drosophila": "RhoGAP68F", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.1628, "sd_percent_ciliated": 1.1342, "z_score": 0.9879, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 9.66, "sd_percent_ciliated": 9.66, "z_score": 9.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.9447, "sd_percent_ciliated": -8.9447, "z_score": -8.9447, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARHGAP29", "ensembl_id": "ENSG00000137962", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "Rho GTPase activating protein 29 [Source:HGNC Symbol,Acc:HGNC:30207]", "omim_id": "610496", "functional_summary": "Using cilia length as a phenotypic readout for centrosomal RhoA activity, ARHGAP5, -29, and -35 are essential regulators of ciliation in normal human re l tubular cells. The centrosome retention of ARHGAP5 and -29 are determined by their interaction with other proteins apart from PC1(32663194).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cilia length regulation", "reference": "3.2663194E7", "complex_components": {}, "pfam_ids": ["PF00620", "PF24235", "PF22699", "PF00130"], "domain_descriptions": ["Rho GTPase-activating protein domain", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Rho GTPase activation protein", "AH/BAR domain superfamily", "F-BAR domain", "C1-like domain superfamily", "Rho GTPase-activating", "GMIP/FCHO2-like", "FCH domain", "Rho GTPase-activating protein 29/45", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000137962", "synonym": "PARG1", "ortholog_mouse": "Arhgap29", "ortholog_c_elegans": "spv-1", "ortholog_xenopus": "arhgap29", "ortholog_zebrafish": "arhgap29a, arhgap29b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.52, "sd_percent_ciliated": 0.52, "z_score": 0.52, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3563, "sd_percent_ciliated": -4.3563, "z_score": -4.3563, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARHGAP35", "ensembl_id": "ENSG00000160007", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "Rho GTPase activating protein 35 [Source:HGNC Symbol,Acc:HGNC:4591]", "omim_id": "605277", "functional_summary": "Using cilia length as a phenotypic readout for centrosomal RhoA activity, ARHGAP5, -29, and -35 as essential regulators of ciliation in normal human re l tubular cells and in PKD1-null cells, centrosomal ARHGAP35 decreased(32663194)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Cilia length regulation", "reference": "32663194 ,32663194", "complex_components": {}, "pfam_ids": ["PF00620", "PF23083", "PF19518", "PF00071", "PF16512"], "domain_descriptions": ["Rho GTPase-activating protein domain", "Small GTPase", "FF domain", "Rho GTPase activation protein", "P-loop containing nucleoside triphosphate hydrolase", "Rho GTPase-activating protein", "FF domain", "FF domain superfamily", "Rho GTPase-activating protein", "pG2 domain", "Rho GTPase-activating protein", "pG1 domain", "Rho GTPase-activating protein", "pG1 and pG2 domain", "Rho GTPase-activating domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000160007", "synonym": "GRF-1, GRLF1, KIAA1722, P190A, P190ARHOGAP, P190RHOGAP", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Arhgap35", "ortholog_c_elegans": "rga-5", "ortholog_xenopus": "arhgap35", "ortholog_zebrafish": "arhgap35a, arhgap35b", "ortholog_drosophila": "RhoGAPp190", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.94, "sd_percent_ciliated": 3.94, "z_score": 3.94, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7361, "sd_percent_ciliated": -3.7361, "z_score": -3.7361, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARHGAP36", "ensembl_id": "ENSG00000147256", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Rho GTPase activating protein 36 [Source:HGNC Symbol,Acc:HGNC:26388]", "omim_id": "300937", "functional_summary": "Patched1-ArhGAP36-PKA- Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0598432E7", "complex_components": {}, "pfam_ids": "PF00620", "domain_descriptions": ["Rho GTPase-activating protein domain", "Rho GTPase activation protein", "Rho GTPase-activating protein 6/36", "ARHGAP6/36", "RhoGAP domain"], "string_link": "https://string-db.org/network/9606/ENSG00000147256", "synonym": "FLJ30058", "ortholog_mouse": "Arhgap36", "ortholog_c_elegans": "rga-6", "ortholog_xenopus": "arhgap36", "ortholog_zebrafish": "arhgap36", "ortholog_drosophila": "RhoGAP102A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.278, "sd_percent_ciliated": 0.278, "z_score": 0.278, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.123, "sd_percent_ciliated": 0.123, "z_score": 0.123, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARHGAP5", "ensembl_id": "ENSG00000100852", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "Rho GTPase activating protein 5 [Source:HGNC Symbol,Acc:HGNC:675]", "omim_id": "602680", "functional_summary": "Using cilia length as a phenotypic readout for centrosomal RhoA activity, ARHGAP5, -29, and -35 are essential regulators of ciliation in normal human re l tubular cells. The centrosome retention of ARHGAP5 and -29 are determined by their interaction with other proteins apart from PC1(32663194).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Cilia length regulation", "reference": "3.2663194E7", "complex_components": {}, "pfam_ids": ["PF23083", "PF16512", "PF19518", "PF01846", "PF00620"], "domain_descriptions": ["Rho GTPase-activating protein domain", "FF domain", "Rho GTPase activation protein", "P-loop containing nucleoside triphosphate hydrolase", "Rho GTPase-activating protein", "FF domain", "FF domain superfamily", "Rho GTPase-activating protein", "pG2 domain", "Rho GTPase-activating protein", "pG1 domain", "Rho GTPase-activating protein", "pG1 and pG2 domain", "Rho GTPase-activating domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000100852", "synonym": "GFI2, P190-B, P190BRHOGAP, RHOGAP5", "ortholog_mouse": "Arhgap5", "ortholog_c_elegans": "rga-5", "ortholog_xenopus": "arhgap5", "ortholog_zebrafish": "arhgap5", "ortholog_drosophila": "RhoGAPp190", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 50.3841, "sd_percent_ciliated": 2.7004, "z_score": 1.4993, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.3, "sd_percent_ciliated": 13.3, "z_score": 13.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6148, "sd_percent_ciliated": -1.6148, "z_score": -1.6148, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARHGEF18", "ensembl_id": "ENSG00000104880", "overexpression_effects": "Longer", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Rho/Rac guanine nucleotide exchange factor 18 [Source:HGNC Symbol,Acc:HGNC:17090]", "omim_id": "616432", "functional_summary": "SEPTIN9 regulates RhoA sig ling at the base of cilia by binding and activating the RhoA guanine nucleotide exchange factor, ARHGEF18 (36912772).", "localization": "basal body,cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "36912772, 28132693", "complex_components": ["ARHGEF18", "ARRB1", "ENAH"], "pfam_ids": ["PF17838", "PF00621"], "domain_descriptions": ["Dbl homology domain", "Pleckstrin homology domain", "PH-like domain superfamily", "Zinc finger C2H2-type", "Dbl homology (DH) domain superfamily", "ARHGEF18", "PH domain", "ARHGEF1-like", "PH domain", "Rho guanine nucleotide exchange factor 18"], "string_link": "https://string-db.org/network/9606/ENSG00000104880", "synonym": "KIAA0521, MGC15913, P114-RHOGEF, P114RHOGEF", "ortholog_mouse": "Arhgef18", "ortholog_xenopus": "arhgef18", "ortholog_zebrafish": "arhgef18a, arhgef18b", "ortholog_drosophila": "cyst", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.0319, "sd_percent_ciliated": 11.5744, "z_score": 0.0027 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.409, "sd_percent_ciliated": 0.409, "z_score": 0.409 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.0513, "sd_percent_ciliated": -4.0513, "z_score": -4.0513 } ] }, { "gene": "ARL13B", "ensembl_id": "ENSG00000169379", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "ARF like GTPase 13B [Source:HGNC Symbol,Acc:HGNC:25419]", "omim_id": "608922", "functional_summary": "Mutated in Joubert Syndrome (type 8) OMIM 608922, 18674751. In proximal ciliary membrane PMID:20231383. Role in IFT and therefore ciliogenesis PMID:20530210. Necessary for normal Shh PMID:21976698 and INPP5E sig lling PMID:23150559 and normal expression of Nodal and Cerl2 PMID:22554696.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Ciliary membrane", "reference": "18674751, 20231383, 20530210, 21976698, 23150559, 22554696, 18674751, 25138100 ,18674751, 25138100", "complex_components": {}, "pfam_ids": "PF00025", "domain_descriptions": ["Small GTPase superfamily", "ARF/SAR type", "P-loop containing nucleoside triphosphate hydrolase", "Ciliary function-associated GTPase", "Small GTP-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000169379", "synonym": "ARL2L1, DKFZP761H079, JBTS8", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Arl13b", "ortholog_c_elegans": "arl-13", "ortholog_xenopus": "arl13b", "ortholog_zebrafish": "arl13b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 66, "sd_percent_ciliated": 66, "z_score": 66, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.66, "sd_percent_ciliated": -1.66, "z_score": -1.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARL15", "ensembl_id": "ENSG00000185305", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ARF like GTPase 15 [Source:HGNC Symbol,Acc:HGNC:25945]", "functional_summary": "ARL15 has localized to cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00025", "domain_descriptions": ["Small GTPase superfamily", "ARF/SAR type", "P-loop containing nucleoside triphosphate hydrolase", "ADP-ribosylation factor-like protein 15"], "string_link": "https://string-db.org/network/9606/ENSG00000185305", "synonym": "ARFRP2, FLJ20051", "ortholog_mouse": "Arl15", "ortholog_xenopus": "arl15", "ortholog_zebrafish": "arl15a, arl15b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.516, "sd_percent_ciliated": 0.516, "z_score": 0.516, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.4867, "sd_percent_ciliated": -7.4867, "z_score": -7.4867, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARL16", "ensembl_id": "ENSG00000214087", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Decreased", "description": "ARF like GTPase 16 [Source:HGNC Symbol,Acc:HGNC:27902]", "omim_id": "619117", "functional_summary": "ARL16 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00025", "domain_descriptions": ["Small GTPase superfamily", "ARF/SAR type", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000214087", "ortholog_mouse": "Arl16", "ortholog_xenopus": "arl16", "ortholog_zebrafish": "arl16", "ortholog_drosophila": "CG13692", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 33, "sd_percent_ciliated": 33, "z_score": 33, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1467, "sd_percent_ciliated": -1.1467, "z_score": -1.1467, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARL2", "ensembl_id": "ENSG00000213465", "overexpression_effects": "Shorter cilia", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "ARF like GTPase 2 [Source:HGNC Symbol,Acc:HGNC:693]", "omim_id": "601175", "functional_summary": "Regulates cilia stability and development of outer segments in rod photoreceptor neurons.", "localization": "cilia, Centrosome, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0446707E7", "complex_components": ["ARL2", "TBCD", "TUBB", "TBCE"], "pfam_ids": "PF00025", "domain_descriptions": ["Small GTP-binding domain", "Small GTPase superfamily", "ARF/SAR type", "P-loop containing nucleoside triphosphate hydrolase", "ADP-ribosylation factor-like protein 2/3", "ADP-ribosylation factor-like protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000213465", "synonym": "ARFL2", "ortholog_mouse": "Arl2", "ortholog_c_elegans": "evl-20", "ortholog_xenopus": "arl2", "ortholog_zebrafish": "arl2", "ortholog_drosophila": "Arl2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.7923, "z_score": 0.4076, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.1867, "z_score": 1.4754, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.8583 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.22, "z_score": 2.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.22 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.779, "z_score": 0.779, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.779 } ] }, { "gene": "ARL2BP", "ensembl_id": "ENSG00000102931", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "ARF like GTPase 2 binding protein [Source:HGNC Symbol,Acc:HGNC:17146]", "omim_id": "615407", "functional_summary": "Needed for normal photoreceptor cilia doublets and outer segment structure.", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29718757, 36507858 ,31425546; 23849777", "complex_components": {}, "pfam_ids": "PF11527", "domain_descriptions": ["BART domain", "ADP-ribosylation factor-like protein 2-binding protein", "BART domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000102931", "synonym": "BART, BART1, RP66", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Arl2bp", "ortholog_xenopus": "arl2bp", "ortholog_zebrafish": "arl2bp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.2359, "sd_percent_ciliated": 5.6641, "z_score": -1.5476 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.58, "sd_percent_ciliated": 3.58, "z_score": 3.58 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0573, "sd_percent_ciliated": -3.0573, "z_score": -3.0573 } ] }, { "gene": "ARL3", "ensembl_id": "ENSG00000138175", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "ARF like GTPase 3 [Source:HGNC Symbol,Acc:HGNC:694]", "omim_id": "604695", "functional_summary": "interactor of RP2 12417528 and PDEdelta PMID:10518933. Involved in trafficking of vesicles from the Golgi to the cilium PMID:20106869, especially, farnesylated cargo PMID:22002721 in association with PDEdelta and RPGR PMID:23559067, and myristoylated cargo in association with UNC119 and RP2 PMID:22085962 ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition 30269812", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "12417528, 10518933, 20106869, 22002721, 23559067, 22085962, 30269812, 30269812, 33748123, 26964041 ,30269812; 33748123", "complex_components": ["ARL3", "RP2", "UNC119"], "pfam_ids": "PF00025", "domain_descriptions": ["Small GTP-binding domain", "Small GTPase superfamily", "ARF/SAR type", "P-loop containing nucleoside triphosphate hydrolase", "ADP-ribosylation factor-like protein 2/3", "Guanine nucleotide binding protein (G-protein)", "alpha subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000138175", "synonym": "ARFL3", "ciliopathy": "Joubert Syndrome; Cone-Rod Dystrophy", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Arl3", "ortholog_c_elegans": "arl-3", "ortholog_xenopus": "arl3", "ortholog_zebrafish": "arl3a, arl3b", "ortholog_drosophila": "dnd", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.8135, "sd_percent_ciliated": 2.6531, "z_score": -0.6295, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 126, "sd_percent_ciliated": 126, "z_score": 126, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2309, "sd_percent_ciliated": -0.2309, "z_score": -0.2309, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARL6", "ensembl_id": "ENSG00000113966", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "ARF like GTPase 6 [Source:HGNC Symbol,Acc:HGNC:13210]", "omim_id": "608845", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 3) and retinitis pigmentosa (type 55) OMIM 608845, PMID:19956407, PMID:15314642. At the ciliary gate, regulates Wnt sig lling PMID:20207729. Functions with BBSome to coat proteins for trafficking to the cilium PMID:20603001", "localization": "basal body, cilia, transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane, Transition zone", "reference": "19956407, 15314642, 20207729, 20603001, 15314642, 19956407, 31736247 ,15314642", "complex_components": {}, "pfam_ids": "PF00025", "domain_descriptions": ["Small GTP-binding domain", "Small GTPase superfamily", "ARF/SAR type", "Small GTPase superfamily", "ARF type", "P-loop containing nucleoside triphosphate hydrolase", "ADP-ribosylation factor-like protein 6"], "string_link": "https://string-db.org/network/9606/ENSG00000113966", "synonym": "BBS3, RP55", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Arl6", "ortholog_c_elegans": "arl-6", "ortholog_zebrafish": "arl6", "ortholog_drosophila": "Arl6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.2955, "sd_percent_ciliated": 3.3928, "z_score": 0.5193 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 99.6, "sd_percent_ciliated": 99.6, "z_score": 99.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.716, "sd_percent_ciliated": -0.716, "z_score": -0.716 } ] }, { "gene": "ARMC2", "ensembl_id": "ENSG00000118690", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "armadillo repeat containing 2 [Source:HGNC Symbol,Acc:HGNC:23045]", "omim_id": "618424", "functional_summary": "Required for sperm flagellum formation. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.0686508E7", "complex_components": {}, "pfam_ids": "PF05804", "domain_descriptions": ["Armadillo", "Armadillo-like helical", "Armadillo-type fold", "Armadillo repeat-containing protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000118690", "synonym": "BA787I22.1, DKFZP434P0714", "ortholog_mouse": "Armc2", "ortholog_xenopus": "armc2", "ortholog_zebrafish": "armc2", "ortholog_drosophila": "CG32668", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.6992, "sd_percent_ciliated": 7.3487, "z_score": 0.3259 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.668, "sd_percent_ciliated": 0.668, "z_score": 0.668 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3103, "sd_percent_ciliated": 0.3103, "z_score": 0.3103 } ] }, { "gene": "ARMC3", "ensembl_id": "ENSG00000165309", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "armadillo repeat containing 3 [Source:HGNC Symbol,Acc:HGNC:30964]", "omim_id": "611226", "functional_summary": "ARMC3, EFCAB6, FAM183A, MYCBPAP, RIBC2 and VWA3A, associated with motile cilia ( 326169).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.2616903E7", "complex_components": {}, "pfam_ids": ["PF14381", "PF24768", "PF00514", "PF13646"], "domain_descriptions": ["Armadillo", "Armadillo-like helical", "Armadillo-type fold", "Armadillo Repeat & Ser/Thr Protein Kinase", "EDR1/CTR1/ARMC3-like", "peptidase-like domain", "ARMC5-like", "ARM-repeats domain"], "string_link": "https://string-db.org/network/9606/ENSG00000165309", "synonym": "CT81, FLJ32827, VAC8", "ortholog_mouse": "Armc3", "ortholog_xenopus": "armc3", "ortholog_zebrafish": "armc3", "ortholog_drosophila": "CG13326", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.4363, "sd_percent_ciliated": 1.1401, "z_score": -0.6752, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.37, "sd_percent_ciliated": 5.37, "z_score": 5.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1738, "sd_percent_ciliated": 0.1738, "z_score": 0.1738, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARMC8", "ensembl_id": "ENSG00000114098", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "armadillo repeat containing 8 [Source:HGNC Symbol;Acc:HGNC:24999]", "omim_id": "618521", "functional_summary": "RMND5A and TWA1 are present at the basal body, at the axoneme in primary cilia and motile mono-cilia, and at the centrioles in cycling cells, and other integral components of the GID complex(ARMC8 and MKLN1) are present at the axoneme in primary cilia, suggesting that the GID complex has a function at the primary cilium(35543155).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.5543155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000114098", "synonym": "DKFZP434A043, GID5, HSPC056, VID28", "ortholog_mouse": "Armc8", "ortholog_xenopus": "armc8", "ortholog_zebrafish": "armc8", "screens": [] }, { "gene": "ARMC9", "ensembl_id": "ENSG00000135931", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "armadillo repeat containing 9 [Source:HGNC Symbol,Acc:HGNC:20730]", "omim_id": "617612", "functional_summary": "Ciliopathy gene JBTS30 PMID:28625504. Interacts with coiled-coil domain containing 66 (CCDC66) and TOG array regulator of axonemal 1 (TOGARAM1) 32453716. Regulator of b- tubule length (30217954).Loss of function andof GFP-ARMC9B increased length of cilia, and overexpression of GFP-ARMC9B elongated distal segment (~30%), but effect was on geometry rather than whole cilium length(PMID: 30217954).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "28625504, 32453716, 30217954, 28625504,30217954 ,28625504", "complex_components": {}, "pfam_ids": ["PF21050", "PF23138", "PF21051"], "domain_descriptions": ["LIS1 homology motif", "Armadillo-like helical", "Armadillo-type fold", "LisH domain-containing protein ARMC9", "ARMC9", "LIS1 homology motif", "LisH domain-containing protein ARMC9", "ARM repeat domain", "ARMC9", "CTLH-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000135931", "synonym": "ARM, FLJ12584, KIAA1868, KU-MEL-1", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Armc9", "ortholog_c_elegans": "F59G1.4", "ortholog_xenopus": "armc9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 31.4, "sd_percent_ciliated": 31.4, "z_score": 31.4, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6983, "sd_percent_ciliated": -1.6983, "z_score": -1.6983, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ARMS2", "ensembl_id": "ENSG00000254636", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "age-related maculopathy susceptibility 2 [Source:HGNC Symbol,Acc:HGNC:32685]", "omim_id": "611313", "functional_summary": "ARMS2 has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000254636", "synonym": "ARMD8, LOC387715", "screens": {} }, { "gene": "ARPP19", "ensembl_id": "ENSG00000128989", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cAMP regulated phosphoprotein 19 [Source:HGNC Symbol,Acc:HGNC:16967]", "omim_id": "605487", "functional_summary": "ARPP19 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF04667", "domain_descriptions": "Endosulphine", "string_link": "https://string-db.org/network/9606/ENSG00000128989", "synonym": "ARPP-16, ARPP-19, ARPP16, ENSAL", "ortholog_mouse": "Arpp19", "ortholog_c_elegans": "ensa-1", "ortholog_xenopus": "arpp19", "ortholog_zebrafish": "arpp19a, arpp19b", "ortholog_drosophila": "endos", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.62, "sd_percent_ciliated": 1.62, "z_score": 1.62, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7076, "sd_percent_ciliated": -1.7076, "z_score": -1.7076, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ART3", "ensembl_id": "ENSG00000156219", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADP-ribosyltransferase 3 (inactive) [Source:HGNC Symbol,Acc:HGNC:725]", "omim_id": "603086", "functional_summary": "ART3 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF01129", "domain_descriptions": ["NAD:arginine ADP-ribosyltransferase", "ART", "Arg-specific ADP-ribosyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000156219", "synonym": "ARTC3", "ortholog_mouse": "Art3", "ortholog_xenopus": "art5, LOC116408937", "ortholog_zebrafish": "si:ch211-51i16.1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.2051, "sd_percent_ciliated": 0.7575, "z_score": 0.266 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.9864, "sd_percent_ciliated": -2.9864, "z_score": -2.9864 } ] }, { "gene": "ASAP1", "ensembl_id": "ENSG00000153317", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Source:HGNC Symbol,Acc:HGNC:2720]", "omim_id": "605953", "functional_summary": "Targets proteins, such as rhodopsin and polycystin-1, to cilia in association with ARF4, RAB11 and RAB8 PMID:19153612, PMID:21775626. Provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary cargo trafficking PMID:22983554", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane, Transcription regulation", "reference": "19153612, 21775626, 22983554 ,22983554", "complex_components": ["ASAP1", "CTTN", "PXN", "RAB11A", "RAB11FIP3", "ARF4", "PKD1", "PTK2B", "SRC"], "pfam_ids": ["PF01412", "PF12796", "PF00169", "PF14604", "PF16746"], "domain_descriptions": ["Arf GTPase activating protein", "SH3 domain", "Pleckstrin homology domain", "Ankyrin repeat", "BAR domain", "PH-like domain superfamily", "AH/BAR domain superfamily", "SH3-like domain superfamily", "Ankyrin repeat-containing domain superfamily", "ARFGAP/RecO-like zinc finger", "ASAP", "PH domain", "ASAP1", "SH3 domain", "ArfGAP domain superfamily", "Arf-GAP with SH3 domain", "ANK repeat and PH domain-containing protein", "ASAP1", "BAR domain"], "string_link": "https://string-db.org/network/9606/ENSG00000153317", "synonym": "CENTB4, DDEF1, KIAA1249, PAP, ZG14P", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Asap1", "ortholog_xenopus": "asap1", "ortholog_zebrafish": "asap1a, asap1b", "ortholog_drosophila": "Asap", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0646, "sd_percent_ciliated": 0.0646, "z_score": 0.0646, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3029, "sd_percent_ciliated": -0.3029, "z_score": -0.3029, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ASIP", "ensembl_id": "ENSG00000101440", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "agouti signaling protein [Source:HGNC Symbol,Acc:HGNC:745]", "omim_id": "600201", "functional_summary": "ASIP has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF05039", "domain_descriptions": ["Agouti", "Agouti domain", "Agouti domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101440", "synonym": "AGTIL, ASP", "ortholog_mouse": "a", "ortholog_zebrafish": "asip1, asip2b", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.3671, "z_score": 0.5871, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.4154, "z_score": 1.6242, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.7199 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.05, "z_score": 1.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.05 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.2301, "z_score": -12.2301, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -12.2301 } ] }, { "gene": "ASNS", "ensembl_id": "ENSG00000070669", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not reported", "description": "asparagine synthetase (glutamine-hydrolyzing) [Source:HGNC Symbol,Acc:HGNC:753]", "omim_id": "108370", "functional_summary": "Ift88-mutant cells lacking cilia show reduced glutamine-dependent mitochondrial a plerosis during metabolic stress, due to reduced expression and activity of ASNS at the base of cilia (36879119). Silencing Asns induced the expected elongation of cilia at baseline(PMID: 36879119).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "3.6879119E7", "complex_components": {}, "pfam_ids": ["PF13537", "PF00733"], "domain_descriptions": ["Asparagine synthase", "Asparagine synthase", "glutamine-hydrolyzing", "Rossmann-like alpha/beta/alpha sandwich fold", "Glutamine amidotransferase type 2 domain", "Nucleophile aminohydrolases", "N-terminal", "Asparagine synthase", "N-terminal domain", "Asparagine Synthetase"], "string_link": "https://string-db.org/network/9606/ENSG00000070669", "ortholog_mouse": "Asns", "ortholog_c_elegans": "asns-1, asns-2", "ortholog_xenopus": "asns", "ortholog_zebrafish": "asns", "ortholog_drosophila": "AsnS", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.4721, "z_score": 0.3076, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.4953, "z_score": 1.6339, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.8848 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.6, "z_score": 13.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 13.6 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7534, "z_score": -4.7534, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.7534 } ] }, { "gene": "ATAT1", "ensembl_id": "ENSG00000231257", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "alpha tubulin acetyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:21186]", "omim_id": "615556", "functional_summary": "Major alpha-tubulin K40 acetyltransferase alphaTAT1. Promotes rapid ciliogenesis and efficient mechanosensation.", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "21068373, 23720746", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000231257", "synonym": "C6ORF134, EM:AB023049.7, FLJ13158, MEC17", "ortholog_mouse": "Atat1", "ortholog_c_elegans": "atat-2, mec-17", "ortholog_xenopus": "atat1", "ortholog_zebrafish": "atat1", "ortholog_drosophila": "Atat, lky", "screens": {} }, { "gene": "ATF3", "ensembl_id": "ENSG00000162772", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not reported", "description": "activating transcription factor 3 [Source:HGNC Symbol,Acc:HGNC:785]", "omim_id": "603148", "functional_summary": "ATF3 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ATF3", "JUN"], "pfam_ids": ["PF00170", "PF07716"], "domain_descriptions": ["AP-1 transcription factor", "Basic-leucine zipper domain", "Basic-leucine zipper domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000162772", "ortholog_mouse": "Atf3", "ortholog_xenopus": "atf3", "ortholog_zebrafish": "atf3", "ortholog_drosophila": "Atf3", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.6235, "z_score": 0.6671, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.6747, "z_score": 2.1403, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.7611 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.15, "z_score": 1.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.15 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5145, "z_score": -5.5145, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.5145 } ] }, { "gene": "ATF6", "ensembl_id": "ENSG00000118217", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not reported", "description": "activating transcription factor 6 [Source:HGNC Symbol,Acc:HGNC:791]", "omim_id": "605537", "functional_summary": "ATF6 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000118217", "synonym": "ATF6A, ATP6ALPHA", "ortholog_mouse": "Atf6", "ortholog_c_elegans": "atf-6", "ortholog_xenopus": "atf6", "ortholog_zebrafish": "atf6", "ortholog_drosophila": "Atf6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.7969, "sd_percent_ciliated": 0.9039, "z_score": 1.5493 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.1, "sd_percent_ciliated": 2.1, "z_score": 2.1 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8181, "sd_percent_ciliated": -2.8181, "z_score": -2.8181 } ] }, { "gene": "ATG16L1", "ensembl_id": "ENSG00000281089", "overexpression_effects": "Not Reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "autophagy related 16 like 1 [Source:HGNC Symbol,Acc:HGNC:21498]", "omim_id": "610767", "functional_summary": "ATG16L1 regulates ciliogenesis independently of macro-autophagy. ATG16L1 interacts with ciliary protein IFT20 via WD40 domain to regulate ciliogenesis. ATG16L1 interacts with the phosphoinositide-associated phosphatase INPP5E. Loss of ATG16L1 interaction with INPP5E leads to a default of PI4P at the primary cilium (33910006). Loss of ATG16L1 results in abnormal cilium structures, especially in phosphoinositide pattern and membrane composition, and mistrafficking of INPP5E(PMID: 34057021).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Viral interactions", "reference": "33910006 , 34057021 ,34057021", "complex_components": ["ATG16L1", "CCAR1", "CDC37", "CHUK", "HSP90AA1", "HSP90AB1", "IKBKG", "NFKBIB", "TBK1", "TXLNA"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281089", "synonym": "APG16L, ATG16A, ATG16L, FLJ10035, WDR30", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Atg16l1", "ortholog_c_elegans": "atg-16.1, atg-16.2", "ortholog_xenopus": "atg16l1", "ortholog_zebrafish": "atg16l1", "ortholog_drosophila": "Atg16", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.6558, "sd_percent_ciliated": 14.2553, "z_score": -1.2544 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.79, "sd_percent_ciliated": 1.79, "z_score": 1.79 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.5967, "sd_percent_ciliated": 2.5967, "z_score": 2.5967 } ] }, { "gene": "ATG3", "ensembl_id": "ENSG00000144848", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "autophagy related 3 [Source:HGNC Symbol,Acc:HGNC:20962]", "omim_id": "609606", "functional_summary": "OFD1 at the centriolar satellites is rapidly degraded by autophagy upon serum starvation. In autophagy- deficient Atg5 or Atg3 null mouse embryonic fibroblasts, OFD1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of BBS4 (Bardet-Biedl syndrome 4) to cilia. Atg3 null mouse embryonic fibroblasts, Ofd1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia(PMID: 24089205).", "localization": "basal body , cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "24089205 ,24089205", "complex_components": {}, "pfam_ids": "PF03987", "domain_descriptions": "Ubiquitin-like-conjugating enzyme Atg3/Atg10", "string_link": "https://string-db.org/network/9606/ENSG00000144848", "synonym": "APG3L, DKFZP564M1178, FLJ22125, MGC15201, PC3-96", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Atg3", "ortholog_c_elegans": "atg-3", "ortholog_xenopus": "atg3", "ortholog_zebrafish": "atg3", "ortholog_drosophila": "Atg3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.72, "sd_percent_ciliated": 1.72, "z_score": 1.72, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6158, "sd_percent_ciliated": -1.6158, "z_score": -1.6158, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATG5", "ensembl_id": "ENSG00000057663", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "autophagy related 5 [Source:HGNC Symbol,Acc:HGNC:589]", "omim_id": "604261", "functional_summary": "OFD1 at the centriolar satellites is rapidly degraded by autophagy upon serum starvation. In autophagy- deficient Atg5 or Atg3 null mouse embryonic fibroblasts, OFD1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of BBS4 (Bardet-Biedl syndrome 4) to cilia. MUtations cause spinocerebellar ataxia 25.The percentage of Atg5−/− cells that form a primary cilium, as compared to Atg5+/+ cells, was significantly reduced and the cilia that did form were shorter (PMID: 24089205).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.4089205E7", "complex_components": {}, "pfam_ids": ["PF20637", "PF20638", "PF04106"], "domain_descriptions": ["Autophagy-related protein 5", "Autophagy protein Atg5", "helix rich domain", "Autophagy protein Atg5", "UblA domain superfamily", "Autophagy protein ATG5", "UblB domain", "Autophagy protein ATG5", "UblA domain", "Autophagy protein ATG5", "alpha-helical bundle region"], "string_link": "https://string-db.org/network/9606/ENSG00000057663", "synonym": "APG5, APG5L, ASP, HAPG5", "ortholog_mouse": "Atg5", "ortholog_c_elegans": "atg-5", "ortholog_xenopus": "atg5", "ortholog_zebrafish": "atg5", "ortholog_drosophila": "Atg5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.8126, "sd_percent_ciliated": 2.2854, "z_score": 0.8243 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.67, "sd_percent_ciliated": 2.67, "z_score": 2.67 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.317, "sd_percent_ciliated": -5.317, "z_score": -5.317 } ] }, { "gene": "ATG7", "ensembl_id": "ENSG00000197548", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "autophagy related 7 [Source:HGNC Symbol,Acc:HGNC:16935]", "omim_id": "608760", "functional_summary": "Atg7 is required for spermatozoa flagella biogenesis and cytoplasm removal during spermiogenesis (27310465) localized to flagella (25613900). In atg7-KO mice, cilium length and frequency in kidney proximal tubular cells were significantly reduced compared to those of wild-type tissues (PMID: 25906314).", "localization": "flagella, Cytosol", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27310465 ,25613900 , 25906314", "complex_components": {}, "pfam_ids": ["PF16420", "PF00899"], "domain_descriptions": ["Ubiquitin-like modifier-activating enzyme Atg7", "N-terminal", "Ubiquitin-like modifier-activating enzyme Atg7", "N-terminal", "subdomain 1", "THIF-type NAD/FAD binding fold", "Ubiquitin-like modifier-activating enzyme Atg7", "Ubiquitin-activating enzyme", "Ubiquitin-like modifier-activating enzyme Atg7", "N-terminal", "subdomain 2", "ThiF/MoeB/HesA family"], "string_link": "https://string-db.org/network/9606/ENSG00000197548", "synonym": "APG7L, DKFZP434N0735, GSA7", "ortholog_mouse": "Atg7", "ortholog_c_elegans": "atg-7", "ortholog_xenopus": "atg7", "ortholog_zebrafish": "atg7", "ortholog_drosophila": "Atg7", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.9127, "sd_percent_ciliated": 0.7172, "z_score": 0.8364 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.152, "sd_percent_ciliated": 0.152, "z_score": 0.152 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3219, "sd_percent_ciliated": -3.3219, "z_score": -3.3219 } ] }, { "gene": "ATMIN", "ensembl_id": "ENSG00000291953", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "ATM interactor [Source:HGNC Symbol,Acc:HGNC:29034]", "omim_id": "614693", "functional_summary": "Regulates ciliogenesis. Interacts with DYNLL1 ( 25294941). Knockdown of Atmin or Dynll1 in cultured cells resulted in almost identical phenotypes; fewer ciliated cells and reduced ciliary length(PMID: 25294941).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "25294941 ,25294941", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291953", "synonym": "ASCIZ, KIAA0431, ZNF822", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Atmin", "ortholog_c_elegans": "C34H4.5", "ortholog_xenopus": "atmin", "ortholog_zebrafish": "atmin", "ortholog_drosophila": "Asciz", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 54.8, "sd_percent_ciliated": 54.8, "z_score": 54.8, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1917, "sd_percent_ciliated": 0.1917, "z_score": 0.1917, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATOH1", "ensembl_id": "ENSG00000172238", "overexpression_effects": "Not Reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Reduced cilia numbers/ Increased cilia number", "description": "atonal bHLH transcription factor 1 [Source:HGNC Symbol,Acc:HGNC:797]", "omim_id": "601461", "functional_summary": "Controls Primary Cilia Formation to Allow for SHH- Triggered Granule Neuron Progenitor Proliferation. Atoh1-knockdown GNPs were less likely to display a primary cilium compared to control (PMID: 30695697). Morphological examinations revealed that the numbers of stereocilia bundles of both IHCs and OHCs in the Atoh1-treated animals were significantly greater than those of the untreated cochleae (https://doi.org/10.1371/journal.pone.0046355).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation", "reference": "30695697, https://doi.org/10.1371/journal.pone.0046355", "complex_components": {}, "pfam_ids": "PF00010", "domain_descriptions": ["Myc-type", "basic helix-loop-helix (bHLH) domain", "Transcription factor ATOH1", "basic helix-loop-helix domain", "Helix-loop-helix DNA-binding domain superfamily", "Basic helix-loop-helix transcription factors"], "string_link": "https://string-db.org/network/9606/ENSG00000172238", "synonym": "BHLHA14, HATH1, MATH-1, MATH1", "ortholog_mouse": "Atoh1", "ortholog_c_elegans": "lin-32", "ortholog_xenopus": "atoh1", "ortholog_zebrafish": "atoh1a, atoh1b, atoh1c", "ortholog_drosophila": "amos", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.553, "sd_percent_ciliated": 1.0839, "z_score": -0.7822, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.37, "sd_percent_ciliated": 1.37, "z_score": 1.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9464, "sd_percent_ciliated": -0.9464, "z_score": -0.9464, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATOH7", "ensembl_id": "ENSG00000179774", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "atonal bHLH transcription factor 7 [Source:HGNC Symbol,Acc:HGNC:13907]", "omim_id": "609875", "functional_summary": "ATOH7 localized to flagella (25613900)", "localization": "flagella, Nucleus", "functional_category": "Neurogenesis & migration, Axon guidance & growth, Transcription regulation", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF00010", "domain_descriptions": ["Myc-type", "basic helix-loop-helix (bHLH) domain", "Transcription factor ATOH7", "basic helix-loop-helix", "Helix-loop-helix DNA-binding domain superfamily", "Basic helix-loop-helix transcription factors"], "string_link": "https://string-db.org/network/9606/ENSG00000179774", "synonym": "BHLHA13, MATH5", "ortholog_mouse": "Atoh7", "ortholog_c_elegans": "lin-32", "ortholog_xenopus": "atoh7", "ortholog_zebrafish": "atoh7", "ortholog_drosophila": "amos, ato", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.2346, "sd_percent_ciliated": 2.5578, "z_score": 0.2696 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.405, "sd_percent_ciliated": 0.405, "z_score": 0.405 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4379, "sd_percent_ciliated": 1.4379, "z_score": 1.4379 } ] }, { "gene": "ATP1A4", "ensembl_id": "ENSG00000132681", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATPase Na+/K+ transporting subunit alpha 4 [Source:HGNC Symbol,Acc:HGNC:14073]", "omim_id": "607321", "functional_summary": "Rat Atp1a4 transgene is expressed in mouse spermatozoa and that it is localized to the sperm flagellum.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.0826726E7", "complex_components": ["ATP1A4", "ATP1B1", "ATP1B3"], "pfam_ids": ["PF13246", "PF00690", "PF00702", "PF00689", "PF00122"], "domain_descriptions": ["P-type ATPase", "Cation-transporting P-type ATPase", "N-terminal", "P-type ATPase subfamily IIC", "subunit alpha", "Cation-transporting P-type ATPase", "C-terminal", "P-type ATPase", "A domain superfamily", "P-type ATPase", "phosphorylation site", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain", "Cation transport ATPase (P-type)"], "string_link": "https://string-db.org/network/9606/ENSG00000132681", "synonym": "ATP1AL2", "ortholog_mouse": "Atp1a4", "ortholog_c_elegans": "eat-6", "ortholog_drosophila": "Atpα", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.3557, "sd_percent_ciliated": 1.1741, "z_score": 1.3747 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 } ] }, { "gene": "ATP2A2", "ensembl_id": "ENSG00000174437", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Source:HGNC Symbol,Acc:HGNC:812]", "omim_id": "108740", "functional_summary": "ATP2A2 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ATP2A2", "PLN", "ILK", "SLN", "CALM1", "CAMK2A", "KPNA1"], "pfam_ids": ["PF13246", "PF00689", "PF00690", "PF00122", "PF00702"], "domain_descriptions": ["P-type ATPase", "Cation-transporting P-type ATPase", "N-terminal", "P-type ATPase", "subfamily IIA", "SERCA-type", "Cation-transporting P-type ATPase", "C-terminal", "P-type ATPase", "A domain superfamily", "P-type ATPase", "phosphorylation site", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000174437", "synonym": "ATP2B, DAR, SERCA2", "ortholog_mouse": "Atp2a2", "ortholog_c_elegans": "sca-1", "ortholog_xenopus": "atp2a2", "ortholog_zebrafish": "atp2a2a, atp2a2b", "ortholog_drosophila": "SERCA", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.4297, "sd_percent_ciliated": 4.6328, "z_score": -1.6452 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.54, "sd_percent_ciliated": 7.54, "z_score": 7.54 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8172, "sd_percent_ciliated": -1.8172, "z_score": -1.8172 } ] }, { "gene": "ATP2B1", "ensembl_id": "ENSG00000070961", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATPase plasma membrane Ca2+ transporting 1 [Source:HGNC Symbol,Acc:HGNC:814]", "omim_id": "108731", "functional_summary": "the plasma membrane Ca2+-ATPase 1 (PMCA1) PMCAs 1 and 2 labeled cilia, dendritic knob, dendrite, and cell body, and PMCA4 consistently showed labeling of cilia, dendritic knob, and cell body with little staining of the dendrite(16855061).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "1.6855061E7", "complex_components": {}, "pfam_ids": ["PF13246", "PF00702", "PF00122", "PF00689", "PF00690", "PF12424"], "domain_descriptions": ["P-type ATPase", "Cation-transporting P-type ATPase", "N-terminal", "Cation-transporting P-type ATPase", "C-terminal", "P-type ATPase", "subfamily IIB", "P-type ATPase", "A domain superfamily", "P-type ATPase", "phosphorylation site", "Plasma membrane calcium transporting P-type ATPase", "C-terminal", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000070961", "synonym": "PMCA1", "ortholog_mouse": "Atp2b1", "ortholog_c_elegans": "mca-1, mca-2, mca-3", "ortholog_xenopus": "atp2b1", "ortholog_zebrafish": "atp2b1a, atp2b1b", "ortholog_drosophila": "PMCA", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.0269, "sd_percent_ciliated": 2.6951, "z_score": 0.1233, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 25.2, "sd_percent_ciliated": 25.2, "z_score": 25.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2864, "sd_percent_ciliated": -2.2864, "z_score": -2.2864, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATP2B4", "ensembl_id": "ENSG00000058668", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATPase plasma membrane Ca2+ transporting 4 [Source:HGNC Symbol,Acc:HGNC:817]", "omim_id": "108732", "functional_summary": "When immunostaining of sperm was performed using a PMCA4-specific monoclo l antibody, Pmca4+/+ sperm exhibited intense fluorescence in the principal piece of the sperm tail and faint staining in the interior of the mid-piece (15178683).", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "1.5178683E7", "complex_components": {}, "pfam_ids": ["PF00702", "PF00690", "PF13246", "PF12424", "PF00122", "PF00689"], "domain_descriptions": ["P-type ATPase", "Cation-transporting P-type ATPase", "N-terminal", "Cation-transporting P-type ATPase", "C-terminal", "P-type ATPase", "subfamily IIB", "P-type ATPase", "A domain superfamily", "P-type ATPase", "phosphorylation site", "Plasma membrane calcium transporting P-type ATPase", "C-terminal", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000058668", "synonym": "ATP2B2, MXRA1, PMCA4", "ortholog_mouse": "Atp2b2, Atp2b4", "ortholog_c_elegans": "mca-1, mca-2, mca-3", "ortholog_zebrafish": "atp2b2, atp2b4", "ortholog_drosophila": "PMCA", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.5223, "sd_percent_ciliated": 7.4458, "z_score": 0.7891 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.0575, "sd_percent_ciliated": -2.0575, "z_score": -2.0575 } ] }, { "gene": "ATP4A", "ensembl_id": "ENSG00000105675", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased Ciliated Cell Number", "description": "ATPase H+/K+ transporting subunit alpha [Source:HGNC Symbol,Acc:HGNC:819]", "omim_id": "137216", "functional_summary": "ATP4a and canonical Wnt sig ling are required in the epidermis for expression of foxj1, a transcriptio l regulator of motile ciliogenesis. “Stomachs of adult Atp4a⁻/⁻ mice exhibited metaplasia, which included the presence of ciliated cells. https://doi.org/10.1074/jbc.M001558200”", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25848696, https://doi.org/10.1074/jbc.M001558200", "complex_components": ["ATP4A", "ATP4B"], "pfam_ids": ["PF00702", "PF09040", "PF00122", "PF00689", "PF00690", "PF13246"], "domain_descriptions": ["P-type ATPase", "Cation-transporting P-type ATPase", "N-terminal", "P-type ATPase subfamily IIC", "subunit alpha", "Cation-transporting P-type ATPase", "C-terminal", "P-type ATPase", "A domain superfamily", "Gastric H+/K+-transporter P-type ATPase", "N-terminal", "P-type ATPase", "phosphorylation site", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain", "Cation transport ATPase (P-type)"], "string_link": "https://string-db.org/network/9606/ENSG00000105675", "synonym": "ATP6A", "ortholog_mouse": "Atp4a", "ortholog_xenopus": "atp4a", "ortholog_drosophila": "Atpα", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.4302, "sd_percent_ciliated": 4.8936, "z_score": 0.4145, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0262, "sd_percent_ciliated": 0.0262, "z_score": 0.0262, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.8308, "sd_percent_ciliated": -4.8308, "z_score": -4.8308, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATP5F1A", "ensembl_id": "ENSG00000152234", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP synthase F1 subunit alpha [Source:HGNC Symbol,Acc:HGNC:823]", "omim_id": "164360", "functional_summary": "ATP5F1A has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["ATP5F1A", "ATP5F1B", "ATP5F1C", "ATP5F1D", "ATP5F1E", "ATP5IF1", "ATP5MC1", "ATP5ME", "ATP5MF", "ATP5MG", "ATP5PB", "ATP5PD", "ATP5PF", "ATP5PO", "MT-ATP6", "MT-ATP8", "ATP5MJ", "ATP5MK"], "pfam_ids": ["PF00306", "PF00006", "PF02874"], "domain_descriptions": ["ATPase", "F1/V1/A1 complex", "alpha/beta subunit", "nucleotide-binding domain", "ATP synthase", "alpha subunit", "C-terminal", "ATPase", "F1/V1/A1 complex", "alpha/beta subunit", "N-terminal domain", "ATP synthase", "F1 complex", "alpha subunit", "ATPase", "alpha/beta subunit", "nucleotide-binding domain", "active site", "ATP synthase subunit alpha", "N-terminal domain-like superfamily", "P-loop containing nucleoside triphosphate hydrolase", "ATP synthase", "F1 complex", "alpha subunit nucleotide-binding domain", "ATPase", "F1/V1/A1 complex", "alpha/beta subunit", "N-terminal domain superfamily", "ATP synthase", "alpha subunit", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000152234", "synonym": "ATP5A, ATP5A1, ATP5AL2, ATPM, HATP1, OMR, ORM", "ortholog_mouse": "Atp5f1a", "ortholog_c_elegans": "atp-1", "ortholog_xenopus": "atp5f1a", "ortholog_zebrafish": "atp5fa1", "ortholog_drosophila": "blw", "screens": {} }, { "gene": "ATP5F1D", "ensembl_id": "ENSG00000099624", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP synthase F1 subunit delta [Source:HGNC Symbol,Acc:HGNC:837]", "omim_id": "603150", "functional_summary": "ATP5F1D has localized in basal body,flagella.", "localization": "basal body,flagella, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["ATP5F1A", "ATP5F1B", "ATP5F1C", "ATP5F1D", "ATP5F1E", "ATP5IF1", "ATP5MC1", "ATP5ME", "ATP5MF", "ATP5MG", "ATP5PB", "ATP5PD", "ATP5PF", "ATP5PO", "MT-ATP6", "MT-ATP8", "ATP5MJ", "ATP5MK"], "pfam_ids": ["PF02823", "PF21335"], "domain_descriptions": ["ATP synthase", "F1 complex", "delta/epsilon subunit", "ATP synthase", "F1 complex", "delta/epsilon subunit", "N-terminal", "F0F1 ATP synthase delta/epsilon subunit", "N-terminal", "ATP synthase delta/epsilon subunit", "C-terminal domain superfamily", "F1F0-ATP synthase delta subunit", "C-terminal domain", "metazoan"], "string_link": "https://string-db.org/network/9606/ENSG00000099624", "synonym": "ATP5D", "ortholog_mouse": "Atp5f1d", "ortholog_c_elegans": "F58F12.1", "ortholog_xenopus": "atp5f1d", "ortholog_zebrafish": "atp5f1d", "ortholog_drosophila": "ATPsynδ", "screens": {} }, { "gene": "ATP5MG", "ensembl_id": "ENSG00000167283", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP synthase membrane subunit g [Source:HGNC Symbol,Acc:HGNC:14247]", "omim_id": "617473", "functional_summary": "ATP5MG has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["ATP5F1A", "ATP5F1B", "ATP5F1C", "ATP5F1D", "ATP5F1E", "ATP5IF1", "ATP5MC1", "ATP5ME", "ATP5MF", "ATP5MG", "ATP5PB", "ATP5PD", "ATP5PF", "ATP5PO", "MT-ATP6", "MT-ATP8", "AFG3L2", "FXN", "HSPA9", "HSPD1", "LYRM4", "SDHA", "ATP5MJ", "ATP5MK"], "pfam_ids": "PF04718", "domain_descriptions": ["ATP synthase", "F0 complex", "subunit G", "mitochondrial", "Mitochondrial ATP synthase subunit g", "animal"], "string_link": "https://string-db.org/network/9606/ENSG00000167283", "synonym": "ATP5JG, ATP5L", "ortholog_mouse": "Atg5lrt, Atp5mg", "ortholog_c_elegans": "asg-1, asg-2", "ortholog_xenopus": "atp5mg", "ortholog_zebrafish": "atp5l", "ortholog_drosophila": "ATPsynG, ATPsynGL", "screens": {} }, { "gene": "ATP5MGL", "ensembl_id": "ENSG00000249222", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP synthase membrane subunit g like [Source:HGNC Symbol,Acc:HGNC:13213]", "functional_summary": "ATP5MGL has localized in flagella.", "localization": "flagella", "functional_category": "Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF04718", "domain_descriptions": ["ATP synthase", "F0 complex", "subunit G", "mitochondrial", "Mitochondrial ATP synthase subunit g", "animal"], "string_link": "https://string-db.org/network/9606/ENSG00000249222", "synonym": "ATP5K2, ATP5L2, DJ222E13.5", "ortholog_mouse": "Atg5lrt, Atp5mg", "ortholog_c_elegans": "asg-1, asg-2", "ortholog_xenopus": "atp5mg", "ortholog_zebrafish": "atp5l", "ortholog_drosophila": "ATPsynG", "screens": {} }, { "gene": "ATP5PF", "ensembl_id": "ENSG00000154723", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATP synthase peripheral stalk subunit F6 [Source:HGNC Symbol,Acc:HGNC:847]", "omim_id": "603152", "functional_summary": "ATP5PF has localized in basal body,flagella.", "localization": "basal body,flagella, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["ATP5F1A", "ATP5F1B", "ATP5F1C", "ATP5F1D", "ATP5F1E", "ATP5IF1", "ATP5MC1", "ATP5ME", "ATP5MF", "ATP5MG", "ATP5PB", "ATP5PD", "ATP5PF", "ATP5PO", "MT-ATP6", "MT-ATP8", "ATP5MJ", "ATP5MK"], "pfam_ids": "PF05511", "domain_descriptions": ["ATP synthase-coupling factor 6", "mitochondrial", "ATP synthase-coupling factor 6 superfamily", "mitochondrial"], "string_link": "https://string-db.org/network/9606/ENSG00000154723", "synonym": "ATP5, ATP5A, ATP5J, ATPM, CF6", "ortholog_mouse": "Atp5pf", "ortholog_c_elegans": "atp-4", "ortholog_xenopus": "atp5pf", "ortholog_zebrafish": "atp5pf, si:ch211-140m22.7, si:dkey-22n8.3", "ortholog_drosophila": "ATPsynCF6, ATPsynCF6L", "screens": {} }, { "gene": "ATP6AP2", "ensembl_id": "ENSG00000182220", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "ATPase H+ transporting accessory protein 2 [Source:HGNC Symbol;Acc:HGNC:18305]", "omim_id": "300556", "functional_summary": "Ciliary length was not influenced in ATP6AP2-depleted As4.1 cells compared to controls. Ciliary lengths amounted to 2.84 ± 0.94 μm in scramble controls (n = 37) and 2.81 ± 1.03 μm in ATP6AP2-depleted As4.1 cells (n = 45) (data not shown). Furthermore, we did not observe cells with more than one primary cilium or with a cilium with altered length. Therefore, we exclude dysregulated ciliogenesis. n this study, ATP6AP2 knock-down was associated with the doubling of the percentage of ciliated cells (Fig. 4A). Specifically, the percentage of ciliated cells related to the total number of cell nuclei increased significantly from 16.2 ± 1.8% and 16.4 ± 3.2% in untreated and scramble controls, respectively, to 31.8 ± 4.0% in ATP6AP2-depleted As4.1 cells. Considering that the cell density on the slide may influence the number of ciliated cells due to a contact-induced cell cycle arrest within the G1 phase, we correlated the percentage of ciliated cells with the number of nuclei per field of vision (Fig. 4B). Our data demonstrate that the cell density of scramble controls and ATP6AP2-depleted cells on the slides was low enough to avoid contact-induced cell cycle arrest(28215051).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Protein processing & maturation", "reference": "2.8215051E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000182220", "synonym": "(P)RR; APT6M8-9; ATP6IP2; ATP6M8-9; M8-9; PRR; RENR", "ortholog_mouse": "Atp6ap2", "ortholog_c_elegans": "T14B4.3, vha-20", "ortholog_xenopus": "atp6ap2", "ortholog_zebrafish": "atp6ap2", "ortholog_drosophila": "ATP6AP2", "screens": [] }, { "gene": "ATP6V0A2", "ensembl_id": "ENSG00000185344", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATPase H+ transporting V0 subunit a2 [Source:HGNC Symbol,Acc:HGNC:18481]", "omim_id": "611716", "functional_summary": "ATP6V0A2 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF01496", "domain_descriptions": ["V-type ATPase", "V0 complex", "116kDa subunit family", "ATPase", "V0 complex", "subunit 116kDa", "eukaryotic"], "string_link": "https://string-db.org/network/9606/ENSG00000185344", "synonym": "A2, A2V, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1", "ortholog_mouse": "Atp6v0a2", "ortholog_c_elegans": "unc-32, vha-5, vha-6", "ortholog_xenopus": "atp6v0a2", "ortholog_zebrafish": "atp6v0a2a, atp6v0a2b", "ortholog_drosophila": "Vha100-1, Vha100-2, Vha100-4, Vha100-5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.0653, "sd_percent_ciliated": 7.9568, "z_score": -0.599 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 10.3, "sd_percent_ciliated": 10.3, "z_score": 10.3 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0013, "sd_percent_ciliated": -3.0013, "z_score": -3.0013 } ] }, { "gene": "ATP7B", "ensembl_id": "ENSG00000123191", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "ATPase copper transporting beta [Source:HGNC Symbol,Acc:HGNC:870]", "omim_id": "606882", "functional_summary": "Inactivation of Atp7b causes reorganization of ChPl’ cytoskeleton and cell-cell contacts, loss of Slc31a1 from the apical membrane, and a decrease in the length and number of microvilli and cilia ( 36626371).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6626371E7", "complex_components": {}, "pfam_ids": ["PF00702", "PF00403", "PF00122"], "domain_descriptions": ["P-type ATPase", "Heavy metal-associated domain", "HMA", "Heavy metal-associated domain", "copper ion-binding", "P-type ATPase", "A domain superfamily", "Heavy-metal-associated", "conserved site", "P-type ATPase", "phosphorylation site", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "P-type ATPase", "subfamily IB", "Heavy metal-associated domain superfamily", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000123191", "synonym": "WND", "ortholog_mouse": "Atp7b", "ortholog_c_elegans": "cua-1", "ortholog_xenopus": "atp7b", "ortholog_zebrafish": "atp7b", "ortholog_drosophila": "ATP7", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.0758, "sd_percent_ciliated": 2.6093, "z_score": 1.0985 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.8324, "sd_percent_ciliated": -3.8324, "z_score": -3.8324 } ] }, { "gene": "ATP8A2", "ensembl_id": "ENSG00000132932", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ATPase phospholipid transporting 8A2 [Source:HGNC Symbol,Acc:HGNC:13533]", "omim_id": "605870", "functional_summary": "ATP8A2 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF16212", "PF16209", "PF00122", "PF13246"], "domain_descriptions": ["P-type ATPase", "P-type ATPase", "subfamily IV", "P-type ATPase", "A domain superfamily", "P-type ATPase", "phosphorylation site", "HAD superfamily", "P-type ATPase", "transmembrane domain superfamily", "P-type ATPase", "cytoplasmic domain N", "P-type ATPase", "C-terminal", "P-type ATPase", "N-terminal", "HAD-like superfamily", "P-type ATPase", "haloacid dehalogenase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000132932", "synonym": "ATPIB, ML-1", "ortholog_mouse": "Atp8a2", "ortholog_c_elegans": "tat-1", "ortholog_xenopus": "atp8a2", "ortholog_zebrafish": "atp8a2", "ortholog_drosophila": "ATP8A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.971, "sd_percent_ciliated": 7.7028, "z_score": 1.2069 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.4361, "sd_percent_ciliated": -1.4361, "z_score": -1.4361 } ] }, { "gene": "ATR", "ensembl_id": "ENSG00000175054", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "No Effect", "description": "ATR serine/threonine kinase [Source:HGNC Symbol,Acc:HGNC:882]", "omim_id": "601215", "functional_summary": "Localization of ATR in the cilia of PRs and the fact that mutant mice have shorter cilia suggests that the PR degeneration here described results from a ciliary defect (23297361). ATR-depleted human fibroblasts and ATR-Seckel syndrome (ATR-SS) patient cells show slightly reduced cilia length compared to controls.Zebrafish embryos depleted of Atr also had shorter cilia in the Kupffer’s vesicle (P < 0.0001), confirming a conserved phenotype across species (PMID: 26908596)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cilia length regulation", "reference": "23297361, 26908596", "complex_components": ["ATR", "ATRIP", "HDAC2", "CHD4", "TIMELESS"], "pfam_ids": ["PF02259", "PF25030", "PF02260", "PF25032", "PF23593", "PF08064", "PF00454"], "domain_descriptions": ["Phosphatidylinositol 3-/4-kinase", "catalytic domain", "PIK-related kinase", "FAT", "FATC domain", "Protein kinase-like domain superfamily", "Armadillo-like helical", "Tetratricopeptide-like helical domain superfamily", "UME domain", "PIK-related kinase", "Armadillo-type fold", "Phosphatidylinositol 3/4-kinase", "conserved site", "HEAT", "type 2", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily", "DNA Damage Response and Repair Kinase", "Serine/threonine-protein kinase ATR-like", "M-HEAT region", "Serine/threonine-protein kinase ATR-like", "N-HEAT region"], "string_link": "https://string-db.org/network/9606/ENSG00000175054", "synonym": "FRP1, MEC1, SCKL, SCKL1", "ortholog_mouse": "Atr", "ortholog_c_elegans": "atl-1", "ortholog_xenopus": "atr", "ortholog_zebrafish": "atr", "ortholog_drosophila": "mei-41", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.063, "sd_percent_ciliated": 0.921, "z_score": 0.8546 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 12.6, "sd_percent_ciliated": 12.6, "z_score": 12.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2723, "sd_percent_ciliated": -0.2723, "z_score": -0.2723 } ] }, { "gene": "ATXN1", "ensembl_id": "ENSG00000124788", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ataxin 1 [Source:HGNC Symbol,Acc:HGNC:10548]", "omim_id": "601556", "functional_summary": "Mutations in the ATXN1 gene cause Spinocerebellar Ataxia (PMID: 17190598).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "1.7190598E7", "complex_components": ["ATXN1", "CIC"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000124788", "synonym": "ATX1, D6S504E, SCA1", "ortholog_mouse": "Atxn1", "ortholog_c_elegans": "K04F10.1", "ortholog_zebrafish": "atxn1a, atxn1b", "ortholog_drosophila": "Atx-1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -16.578, "sd_percent_ciliated": -16.578, "z_score": -16.578, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATXN10", "ensembl_id": "ENSG00000130638", "overexpression_effects": "Not Reported", "lof_effects": "Longer Cilia", "percent_ciliated_cells_effects": "Increased Ciliated Cell Number", "description": "ataxin 10 [Source:HGNC Symbol,Acc:HGNC:10549]", "omim_id": "611150", "functional_summary": "Mutated in 1 NPHP family (splice-site mutation). Forms complex with NPHP5 and 6 at the basal body 21565611 Mutated in spinocerebellar ataxia 10. \"In Atxn10Cagg pancreata, the islets exhibited longer cilia, and the exocrine regions of the pancreas had a high density of ciliated cells\" \"While a ciliary role for ATXN10 cannot be excluded, we show that loss of ATXN10 does not affect ciliogenesis in fibroblast or epithelial cells\" (PMID: 34970537)", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "21565611, 11017075, 34970537", "complex_components": {}, "pfam_ids": "PF09759", "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "Ataxin-10 domain", "Ataxin-10 and Copper transport protein 86 families"], "string_link": "https://string-db.org/network/9606/ENSG00000130638", "synonym": "ATX10, E46L, FLJ37990, SCA10", "ortholog_mouse": "Atxn10", "ortholog_xenopus": "atxn10", "ortholog_zebrafish": "atxn10", "ortholog_drosophila": "CG4975", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 11.6, "sd_percent_ciliated": 11.6, "z_score": 11.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.37, "sd_percent_ciliated": 0.37, "z_score": 0.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATXN2", "ensembl_id": "ENSG00000204842", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ataxin 2 [Source:HGNC Symbol,Acc:HGNC:10555]", "omim_id": "601517", "functional_summary": "Mutations in the ATXN2 gene cause Spinocerebellar Ataxia (PMID: 8896555).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "8896555.0", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000204842", "synonym": "ATX2, SCA2, TNRC13", "ortholog_mouse": "Atxn2", "ortholog_c_elegans": "atx-2", "ortholog_xenopus": "atxn2", "ortholog_zebrafish": "atxn2", "ortholog_drosophila": "Atx2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.3055, "sd_percent_ciliated": -11.3055, "z_score": -11.3055, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATXN3", "ensembl_id": "ENSG00000066427", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "ataxin 3 [Source:HGNC Symbol,Acc:HGNC:7106]", "omim_id": "607047", "functional_summary": "ATXN3 localizes at the basal body and axoneme of the cilium, supporting its role in regulating ciliary length. ATXN3 regulates two relevant biological processes in the reti , mely, ciliogenesis and phagocytosis, by modulating microtubule polymerization and microtubule-dependent retrograde transport, thus positing ATXN3 as a causative or modifier gene in reti l/macular dystrophies.On average, ATXN3-depleted cells showed statistically significantly longer cilia (with a 20% mean increase) than control-transfected cells (4.222 μm and 3.523 μm, respectively) (Figure 3E). On the contrary,on average, cilium length was 4.318 μm for control, 3.211 μm for ATXN3 WT, and 4.208 μm in cells overexpressing ATXN3 C14A (Figure 3G). (33176149).", "localization": "basal body, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transcription regulation", "reference": "3.3176149E7", "complex_components": ["ATXN3", "NPLOC4", "RNF8", "UFD1", "VCP"], "pfam_ids": ["PF02809", "PF16619", "PF02099"], "domain_descriptions": ["Ubiquitin interacting motif", "Josephin domain", "Machado-Joseph disease protein"], "string_link": "https://string-db.org/network/9606/ENSG00000066427", "synonym": "ATX3, JOS, MJD, SCA3", "ortholog_mouse": "Atxn3", "ortholog_c_elegans": "atx-3", "ortholog_xenopus": "atxn3", "ortholog_zebrafish": "atxn3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2218, "sd_percent_ciliated": -0.2218, "z_score": -0.2218, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATXN7", "ensembl_id": "ENSG00000163635", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ataxin 7 [Source:HGNC Symbol,Acc:HGNC:10560]", "omim_id": "607640", "functional_summary": "ATXN7 localizes to basal body and cilia in mammalian cells (YT, unpublished data).", "localization": "basal body , cilia, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "31432449, 11030806", "complex_components": ["ATXN7", "KAT2A", "SF3B3", "SUPT3H", "TADA3", "TAF10", "TAF12", "TAF2", "TAF4", "TAF5", "TAF5L", "TAF6", "TAF6L", "TAF7", "TAF9", "TRRAP", "TAF13", "TAF9B", "SUPT7L", "TADA1", "ATXN7L3", "ENY2", "SAP130", "SGF29", "SUPT20H", "TADA2B", "USP22"], "pfam_ids": "PF08313", "domain_descriptions": ["SCA7 domain", "Ataxin-7-like transcription regulator"], "string_link": "https://string-db.org/network/9606/ENSG00000163635", "synonym": "ADCAII, OPCA3, SCA7, SGF73", "ortholog_mouse": "Atxn7", "ortholog_xenopus": "atxn7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.314, "sd_percent_ciliated": 0.314, "z_score": 0.314, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9668, "sd_percent_ciliated": -1.9668, "z_score": -1.9668, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ATXN8", "ensembl_id": "ENSG00000288330", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ataxin 8 [Source:HGNC Symbol,Acc:HGNC:32925]", "functional_summary": "Mutations in the ATXN8 gene cause Spinocerebellar Ataxia (PMID: 18418692).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "1.8418692E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000288330", "screens": {} }, { "gene": "AURKA", "ensembl_id": "ENSG00000087586", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "aurora kinase A [Source:HGNC Symbol,Acc:HGNC:11393]", "omim_id": "603072", "functional_summary": "ki se at the basal body of cilia. Phosphorylates HDAC6 to promote cilia disassembly", "localization": "basal body, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation", "reference": "1.7604723E7", "complex_components": ["AURKA", "CKAP5", "TACC1", "BIRC5", "RASA1", "AURKB", "INCENP", "HDAC6", "INPP5E", "HRAS", "RAF1", "AUNIP", "NIN", "TPX2", "NUMA1", "MYCN"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Aurora kinase A", "Aurora kinase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000087586", "synonym": "AIK, ARK1, AURA, BTAK, PPP1R47, STK15, STK6, STK7", "ortholog_mouse": "Aurka", "ortholog_c_elegans": "air-2", "ortholog_xenopus": "aurka", "ortholog_zebrafish": "aurka", "ortholog_drosophila": "aurA", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.149, "sd_percent_ciliated": 3.3695, "z_score": 0.0169 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.71, "sd_percent_ciliated": 2.71, "z_score": 2.71 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.907, "sd_percent_ciliated": -6.907, "z_score": -6.907 } ] }, { "gene": "AVIL", "ensembl_id": "ENSG00000135407", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "advillin [Source:HGNC Symbol;Acc:HGNC:14188]", "omim_id": "613397", "functional_summary": "Among the ciliogenesis modulators with high confirmation screen scores (Supplementary Table 2) are two Gelsolin (GSN) family proteins GSN and AVIL, which regulate cytoskeletal actin organization by severing actin filaments11. Depletion of GSN proteins by two independent siRNAs significantly reduced ciliated cell numbers, suggesting that actin filament severing is involved in ciliogenesis (20393563).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "20393563 ,22178116", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000135407", "synonym": "ADVIL; DOC6; FLJ12386; P92", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Avil", "ortholog_c_elegans": "gsnl-1", "ortholog_xenopus": "avil", "ortholog_zebrafish": "avil", "ortholog_drosophila": "Gel, qua", "screens": [] }, { "gene": "AXDND1", "ensembl_id": "ENSG00000162779", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "axonemal dynein light chain domain containing 1 [Source:HGNC Symbol,Acc:HGNC:26564]", "functional_summary": "AXDND1 has localized in basal body, transition zone, ciliary tip, primary cilia.", "localization": "basal body, transition zone,cilia", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF10211", "domain_descriptions": ["Axonemal dynein light chain", "Axonemal dynein light chain domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000162779", "synonym": "C1ORF125, FLJ32940", "ortholog_mouse": "Axdnd1", "ortholog_xenopus": "axdnd1", "ortholog_zebrafish": "axdnd1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.61, "sd_percent_ciliated": 1.61, "z_score": 1.61, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4423, "sd_percent_ciliated": 0.4423, "z_score": 0.4423, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "AXIN1", "ensembl_id": "ENSG00000103126", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "axin 1 [Source:HGNC Symbol,Acc:HGNC:903]", "omim_id": "603816", "functional_summary": "AXIN1 has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AXIN1", "DIXDC1", "MAP3K4", "SMAD3", "TGFBR1", "DAXX", "HIPK2", "TP53", "CTNNB1", "GSK3B", "PPP2R5A", "APC", "TSC1", "TSC2", "SETD7", "YAP1", "FOXM1", "ATP6V0C", "ATP6V0D1", "ATP6V1A", "ATP6V1B2", "LAMTOR1", "LAMTOR2", "LAMTOR3", "LAMTOR4", "LAMTOR5", "PRKAA1", "PRKAB1", "PRKAG1", "STK11", "GID8", "DVL1"], "pfam_ids": ["PF00615", "PF16646", "PF00778", "PF08833"], "domain_descriptions": ["DIX domain", "Axin beta-catenin binding", "RGS domain", "RGS", "subdomain 1/3", "Ubiquitin-like domain superfamily", "Axin-1/2", "tankyrase-binding domain", "RGS domain superfamily", "DIX domain superfamily", "Axin-like", "RGS", "subdomain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000103126", "synonym": "PPP1R49", "ortholog_mouse": "Axin1", "ortholog_xenopus": "axin1", "ortholog_zebrafish": "axin1", "ortholog_drosophila": "Axn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.4209, "sd_percent_ciliated": 4.8987, "z_score": 0.0499 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.66, "sd_percent_ciliated": 6.66, "z_score": 6.66 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3426, "sd_percent_ciliated": -0.3426, "z_score": -0.3426 } ] }, { "gene": "AXIN2", "ensembl_id": "ENSG00000168646", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "axin 2 [Source:HGNC Symbol,Acc:HGNC:904]", "omim_id": "604025", "functional_summary": "Loss of AXIN1/2 function leads to excessive ABC accumulation and in turn to overactivation of WNT/β-catenin sig ling in AXIN1/2dKO cells ( 33718363).", "localization": "Ciliary associated gene, Centrosome, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, T cell biology, ECM & connective tissue", "reference": "3.3718363E7", "complex_components": {}, "pfam_ids": ["PF16646", "PF00615", "PF00778", "PF08833"], "domain_descriptions": ["DIX domain", "Axin beta-catenin binding", "RGS domain", "RGS", "subdomain 1/3", "Ubiquitin-like domain superfamily", "Axin-1/2", "tankyrase-binding domain", "RGS domain superfamily", "DIX domain superfamily", "Axin-like", "RGS", "subdomain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000168646", "synonym": "DKFZP781B0869, MGC126582", "ortholog_mouse": "Axin2", "ortholog_xenopus": "axin2l", "ortholog_zebrafish": "axin2", "ortholog_drosophila": "Axn", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.3531, "sd_percent_ciliated": 1.9355, "z_score": 0.1628, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.644, "sd_percent_ciliated": 0.644, "z_score": 0.644, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3354, "sd_percent_ciliated": -3.3354, "z_score": -3.3354, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "B4GAT1", "ensembl_id": "ENSG00000174684", "overexpression_effects": "Not Reported", "lof_effects": "Longer Cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "beta-1,4-glucuronyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:15685]", "omim_id": "605517", "functional_summary": "Involvement of BGNT-1.1(BGNT-1.1 is the orthologue of human B3GNT1/B4GAT1) in ciliated sensory neuron function and morphogenesis. BGNT-1.1 functions at the trans-Golgi network of sheath cells (glia) to influence dye-filling and cilium length, in a cell non-autonomous manner ( 27508411). \"Specifically, bgnt-1.1 mutants were observed to have significantly longer cilia compared to wild-type worms\" (PMID: 27508411)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Axon guidance & growth", "reference": "2.7508411E7", "complex_components": {}, "pfam_ids": "PF13896", "domain_descriptions": ["Beta-1", "4-glucuronyltransferase 1"], "string_link": "https://string-db.org/network/9606/ENSG00000174684", "synonym": "B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, IGAT, IGNT", "ortholog_mouse": "B3gnt6, B4gat1", "ortholog_c_elegans": "bgnt-1.1, bgnt-1.2, bgnt-1.3, bgnt-1.4, bgnt-1.5, bgnt-1.6, bgnt-1.7, bgnt-1.8, bre-5, bus-17", "ortholog_xenopus": "b3gnt3.2, b4gat1, LOC100494334", "ortholog_zebrafish": "b4gat1", "ortholog_drosophila": "brn, CG15483, CG3253", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.73, "sd_percent_ciliated": 1.73, "z_score": 1.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "B9D1", "ensembl_id": "ENSG00000108641", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "B9 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:24123]", "omim_id": "614144", "functional_summary": "Mutated in Meckel-Gruber syndrome (type 9) OMIM 614144 although mutations only found in 1 family PMID:21493627. Interacts with B9D2 and MKS1 at the transition zone PMID:22179047. \"B9d1 mutants exhibited normal node morphology, but lacked almost all nodal cilia; the few cilia that did form were short and displayed swollen tips.\" (PMID: 21763481)", "localization": "transition zone ,basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "21493627, 21763481, 22179047, 21493627, 24886560 ,24886560; 21493627", "complex_components": ["B9D1", "B9D2", "MKS1"], "pfam_ids": "PF07162", "domain_descriptions": "B9-type C2 domain", "string_link": "https://string-db.org/network/9606/ENSG00000108641", "synonym": "B9, EPPB9, MKS9, MKSR-1", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "B9d1", "ortholog_c_elegans": "mksr-1", "ortholog_xenopus": "b9d1", "ortholog_zebrafish": "b9d1", "ortholog_drosophila": "B9d1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 125, "sd_percent_ciliated": 125, "z_score": 125, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8696, "sd_percent_ciliated": -6.8696, "z_score": -6.8696, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "B9D2", "ensembl_id": "ENSG00000123810", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "B9 domain containing 2 [Source:HGNC Symbol,Acc:HGNC:28636]", "omim_id": "611951", "functional_summary": "Mutated in Meckel-Gruber syndrome (type10) OMIM 611951 although mutations only found in 1 family PMID:21763481. Interacts with B9D2 and MKS1 at the transition zone PMID:22179047 \"B9D2-KO cells the ciliogenesis efficiency was significantly reduced and the remaining cilia were shorter in length than in control RPE1 cells\" https://doi.org/10.1091/mbc.E20-03-0208", "localization": "transition zone, basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transition zone", "reference": "21493627, 21763481, 22179047, 21763481, 26092869, https://doi.org/10.1091/mbc.E20-03-0208 ,26092869; 21763481", "complex_components": ["B9D1", "B9D2", "MKS1"], "pfam_ids": "PF07162", "domain_descriptions": "B9-type C2 domain", "string_link": "https://string-db.org/network/9606/ENSG00000123810", "synonym": "MGC4093, MKS10, MKSR-2", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "B9d2", "ortholog_c_elegans": "mksr-2", "ortholog_xenopus": "b9d2", "ortholog_zebrafish": "b9d2", "ortholog_drosophila": "B9d2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 150, "sd_percent_ciliated": 150, "z_score": 150, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9884, "sd_percent_ciliated": -4.9884, "z_score": -4.9884, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BAG2", "ensembl_id": "ENSG00000112208", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BAG cochaperone 2 [Source:HGNC Symbol,Acc:HGNC:938]", "omim_id": "603882", "functional_summary": "BAG2 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": ["BAG2", "HSPA2", "NLRP14"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000112208", "ortholog_mouse": "Bag2", "ortholog_c_elegans": "unc-23", "ortholog_xenopus": "bag2", "ortholog_zebrafish": "bag2", "ortholog_drosophila": "CG7945", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.7369, "sd_percent_ciliated": 2.4914, "z_score": 0.8151 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3193, "sd_percent_ciliated": -0.3193, "z_score": -0.3193 } ] }, { "gene": "BAG3", "ensembl_id": "ENSG00000151929", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "BAG cochaperone 3 [Source:HGNC Symbol,Acc:HGNC:939]", "omim_id": "603883", "functional_summary": "BAG3 has localized in basal body, transition zone. \"Cilia formation was significantly enhanced in BAG3 KO cells, a finding that could be confirmed in BAG3-deficient versus -proficient BT-549 TNBC cells, thus identifying a completely novel function of BAG3 as a negative regulator of ciliogenesis\" PMID: 34180073", "localization": "basal body, transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Cardiac & muscle development, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273, PMID: 34180073", "complex_components": ["BAG3", "HSPA8", "HSPB8", "STUB1"], "pfam_ids": ["PF02179", "PF00397"], "domain_descriptions": ["WW domain", "BAG domain", "WW domain superfamily", "BAG domain superfamily", "Molecular chaperone regulator BAG"], "string_link": "https://string-db.org/network/9606/ENSG00000151929", "ortholog_mouse": "Bag3", "ortholog_xenopus": "bag3", "ortholog_zebrafish": "bag3", "ortholog_drosophila": "stv", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.7274, "sd_percent_ciliated": 10.555, "z_score": 0.4505 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5971, "sd_percent_ciliated": -1.5971, "z_score": -1.5971 } ] }, { "gene": "BAG6", "ensembl_id": "ENSG00000229524", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "BAG cochaperone 6 [Source:HGNC Symbol,Acc:HGNC:13919]", "omim_id": "142590", "functional_summary": "Microtubule-binding protein that regulates ciliogenesis by modulating the cell cycle and interacting with gamma-tubulin. Colocalizes with intracellular and by co- immunoprecipitation we demonstated that it can interact with 伪-tubulin. Assembly of primary cilia in RPE-1 cells is significantly inhibited upon the depletion of BAG6 (31838060)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "3.183806E7", "complex_components": ["BAG6", "HSPA2", "GET4", "UBL4A", "AMFR", "FAF2", "DERL1", "NPLOC4", "UFD1", "VCP", "ZFAND2B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000229524", "synonym": "BAT3, D6S52E, G3, SCYTHE", "ortholog_mouse": "Bag6", "ortholog_c_elegans": "ZK688.5", "ortholog_xenopus": "bag6", "ortholog_zebrafish": "bag6, bag6l", "ortholog_drosophila": "CG7546", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 38.4, "sd_percent_ciliated": 38.4, "z_score": 38.4, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.791, "sd_percent_ciliated": -4.791, "z_score": -4.791, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BBIP1", "ensembl_id": "ENSG00000214413", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "BBSome interacting protein 1 [Source:HGNC Symbol,Acc:HGNC:28093]", "omim_id": "613605", "functional_summary": "Component of BBSome, implicated in BBS (BBS18) 24026985, 32055034, \"Remarkably, the extent of BBIP10 knockdown correlated with a dramatic decrease in ciliation, indicating that BBIP10 is essential for ciliogenesis.\" (PMID: 19081074)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane", "reference": "19081074, 24026985, 32055034, 24026985 ,24026985", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8"], "pfam_ids": "PF14777", "domain_descriptions": "Cilia BBSome complex subunit 10", "string_link": "https://string-db.org/network/9606/ENSG00000214413", "synonym": "BA348N5.3, BBIP10, BBS18, NCRNA00081", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbip1", "ortholog_c_elegans": "K07C11.10", "ortholog_zebrafish": "bbip1", "ortholog_drosophila": "BBIP1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.32, "sd_percent_ciliated": 8.32, "z_score": 8.32, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "BBOF1", "ensembl_id": "ENSG00000119636", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No Effect", "description": "basal body orientation factor 1 [Source:HGNC Symbol,Acc:HGNC:19855]", "omim_id": "620496", "functional_summary": "Required to maintain cilia orientation in multiciliated cells. \"ciliogenesis occurs normally in embryos where bbof1 activity is reduced\" https://doi.org/10.1242/dev.096727, \"Bbof1 morphants formed MCCs in the normal number (data not shown), cilia of normal length\"", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "23900544, https://doi.org/10.1242/dev.096727", "complex_components": {}, "pfam_ids": "PF14988", "domain_descriptions": "Domain of Not Reported function DUF4515", "string_link": "https://string-db.org/network/9606/ENSG00000119636", "synonym": "C14ORF45, CCDC176, FBB10", "ortholog_mouse": "Bbof1", "ortholog_xenopus": "bbof1", "ortholog_zebrafish": "bbof1a, bbof1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0371, "sd_percent_ciliated": 0.0371, "z_score": 0.0371, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "BBS1", "ensembl_id": "ENSG00000174483", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "No Effect", "description": "Bardet-Biedl syndrome 1 [Source:HGNC Symbol,Acc:HGNC:966]", "omim_id": "209901", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 1) OMIM 209901 12118255. Forms part of BBSome, mediates interaction with RABIN8 (RAB3IP), important for RAB8-mediated membrane protein trafficking 20603001, PMID:17574030, PMID:22072986, \"Ciliogenesis is not affected in the absence of BBS1. \"https://doi.org/10.1371/journal.pone.0195005 . \"Investigation of the cilia length in patient fibroblasts revealed that the mean ciliary length was significantly shorter in BBS1−/− cells (3.11 µm), whereas BBS5−/− (4.31–4.14 µm) and BBS10−/− (3.8–4.4 µm) all had significantly longer cilia compared to the pool of control cells (3.61 µm).\" https://doi.org/10.3390/ijms22031345", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, ECM & connective tissue, Transcription regulation, Cilia length regulation", "reference": "12118255, 20603001, 17574030, 22072986, 33910932, 9039982, 20177705, https://doi.org/10.3390/ijms22031345 ,9039982, 20177705", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8", "PKD1"], "pfam_ids": ["PF14779", "PF23304"], "domain_descriptions": ["BBSome complex member BBS1", "Bardet-Biedl syndrome 1", "N-terminal", "Quinoprotein alcohol dehydrogenase-like superfamily", "Bardet-Biedl syndrome 1 protein", "GAE domain", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000174483", "synonym": "FLJ23590", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs1", "ortholog_c_elegans": "bbs-1", "ortholog_xenopus": "bbs1", "ortholog_zebrafish": "bbs1", "ortholog_drosophila": "BBS1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.8626, "sd_percent_ciliated": 2.8077, "z_score": -1.2293 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 28.2, "sd_percent_ciliated": 28.2, "z_score": 28.2 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5121, "sd_percent_ciliated": -1.5121, "z_score": -1.5121 } ] }, { "gene": "BBS10", "ensembl_id": "ENSG00000179941", "overexpression_effects": "Not Reported", "lof_effects": "Longer Cilia/Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "Bardet-Biedl syndrome 10 [Source:HGNC Symbol,Acc:HGNC:26291]", "omim_id": "610148", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 10) OMIM 610148 PMID:16582908. Chaperonin-like protein. Forms complex with other chaperonin-like BBS proteins to facilitate BBSome assembly PMID:20080638. At basal body of differentiating preadipocytes. Role in targeting of Wnt and Hh receptors to this cilium PMID:19190184. \"Investigation of the cilia length in patient fibroblasts revealed that the mean ciliary length was significantly shorter in BBS1−/− cells (3.11 µm), whereas BBS5−/− (4.31–4.14 µm) and BBS10−/− (3.8–4.4 µm) all had significantly longer cilia compared to the pool of control cells (3.61 µm).\" \"the frequency of ciliated cells was significantly lower in BBS10−/−(A) (89.16%) and BBS10−/−(B) (85.78%) cells compared to the pool of the control cells (92.60%).\" https://doi.org/10.3390/ijms22031345. \" Consistently, we observed significantly shorter cilia in cells expressing BBS10 and BBS12 mutants.\" (PMID: 40914337)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transcription regulation, Cilia length regulation", "reference": "16582908, 20080638, PMID: 40914337,16582908, https://doi.org/10.3390/ijms22031345 ,16582908", "complex_components": ["BBS10", "BBS12", "BBS7", "CCT2", "CCT3", "CCT4", "CCT5", "CCT8", "MKKS", "TCP1"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin Cpn60/GroEL/TCP-1 family", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "BBSome complex assembly protein BBS10"], "string_link": "https://string-db.org/network/9606/ENSG00000179941", "synonym": "C12ORF58, FLJ23560", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs10", "ortholog_xenopus": "bbs10", "ortholog_zebrafish": "bbs10", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 127, "sd_percent_ciliated": 127, "z_score": 127, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "BBS12", "ensembl_id": "ENSG00000181004", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "Bardet-Biedl syndrome 12 [Source:HGNC Symbol,Acc:HGNC:26648]", "omim_id": "610683", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 12) OMIM 610683 PMID:17160889 Forms complex with other chaperonin-like BBS proteins to facilitate BBSome assembly PMID:20080638. At basal body of differentiating preadipocytes. Role in targeting of Wnt and Hh receptors to this cilium PMID:19190184. \" Inhibition of BBS10 and BBS12 expression resulted in a significant reduction in the number of ciliated cells compared to control RNAi treated cells\" (PMID: 19190184). \" Consistently, we observed significantly shorter cilia in cells expressing BBS10 and BBS12 mutants.\" (PMID: 40914337)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "17160889, 20080638, 19190184., 17160889, 19797195, PMID: 19190184, PMID: 40914337 ,17160889, 19797195", "complex_components": ["BBS10", "BBS12", "BBS7", "CCT2", "CCT3", "CCT4", "CCT5", "CCT8", "MKKS", "TCP1"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin Cpn60/GroEL/TCP-1 family", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "Chaperonin-containing T-complex member BBS12"], "string_link": "https://string-db.org/network/9606/ENSG00000181004", "synonym": "C4ORF24, FLJ35630, FLJ41559", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs12", "ortholog_xenopus": "bbs12", "ortholog_zebrafish": "bbs12", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 33, "sd_percent_ciliated": 33, "z_score": 33, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5215, "sd_percent_ciliated": -0.5215, "z_score": -0.5215, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BBS2", "ensembl_id": "ENSG00000125124", "overexpression_effects": "Not Reported", "lof_effects": "No Effect ??", "percent_ciliated_cells_effects": "Not Reported", "description": "Bardet-Biedl syndrome 2 [Source:HGNC Symbol,Acc:HGNC:967]", "omim_id": "606151", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 2) OMIM 606151 PMID:11285252. Forms part of BBSome, important for RAB8-mediated membrane protein trafficking 20603001, PMID:17574030, PMID:22072986, \"Although wild-type and Bbs2−/− cilia had the same average length, there was greater variation in the mutant epithelia.\" (PMID: 18299575)", "localization": "basal body, cilia, transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Muscle contraction & physiology, Transition zone, ECM & connective tissue, Transcription regulation", "reference": "11285252, 20603001, 17574030, 22072986, 19252258, 25541840, PMID: 18299575 ,19252258", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8"], "pfam_ids": ["PF14783", "PF23351", "PF23350", "PF14782", "PF23353", "PF14781"], "domain_descriptions": ["WD40/YVTN repeat-like-containing domain superfamily", "Bardet-Biedl syndrome 2 protein", "BBS2", "GAE domain", "Ciliary BBSome complex subunit 2", "middle region", "Ciliary BBSome complex subunit 2", "N-terminal", "WD40-repeat-containing domain superfamily", "BBS2", "platform domain", "BBS2", "hairpin domain", "BBS2", "C-terminal helix bundle domain", "Integrin alpha", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000125124", "synonym": "BBS", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs2", "ortholog_c_elegans": "bbs-2", "ortholog_xenopus": "bbs2", "ortholog_zebrafish": "bbs2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.9272, "sd_percent_ciliated": 5.1446, "z_score": -1.2215 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 83.6, "sd_percent_ciliated": 83.6, "z_score": 83.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3021, "sd_percent_ciliated": -1.3021, "z_score": -1.3021 } ] }, { "gene": "BBS4", "ensembl_id": "ENSG00000140463", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "Bardet-Biedl syndrome 4 [Source:HGNC Symbol,Acc:HGNC:969]", "omim_id": "600374", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 4) OMIM 600374 PMID:11381270. Forms part of BBSome, important for RAB8-mediated membrane protein trafficking 20603001, PMID:17574030, PMID:22072986. \"fewer mutant cells were ciliated [48% ± 6 for wild-type (WT) cells versus 23% ± 7 for Bbs4 null cells; P < 0.0001] and their cilia were shorter (2.55 μm ± 0.41 for WT cells versus 2.16 μm ± 0.23 for Bbs4 null cells; P < 0.0001).\" (PMID: 23716571)", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone, ECM & connective tissue, Transcription regulation", "reference": "11381270, 20603001, 17574030, 22072986, 12016587, 15654695, PMID: 23716571 ,12016587, 15654695", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8", "CEP131", "PCM1", "PKD1"], "pfam_ids": ["PF13181", "PF13414", "PF13432"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000140463", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs4", "ortholog_c_elegans": "bbs-4", "ortholog_xenopus": "bbs4", "ortholog_zebrafish": "bbs4", "ortholog_drosophila": "BBS4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 26.7632, "sd_percent_ciliated": 8.2763, "z_score": -1.3625, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 53.6, "sd_percent_ciliated": 53.6, "z_score": 53.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4377, "sd_percent_ciliated": -3.4377, "z_score": -3.4377, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BBS5", "ensembl_id": "ENSG00000163093", "overexpression_effects": "Not Reported", "lof_effects": "Longer Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "Bardet-Biedl syndrome 5 [Source:HGNC Symbol,Acc:HGNC:970]", "omim_id": "603650", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 5) OMIM 603650 PMID:15137946. Forms part of BBSome, mediates binding to phospholipids, predomi ntly phosphatidylinositol 3- phosphate 20603001, PMID:17574030, PMID:22072986. \"Investigation of the cilia length in patient fibroblasts revealed that the mean ciliary length was significantly shorter in BBS1−/− cells (3.11 µm), whereas BBS5−/− (4.31–4.14 µm) and BBS10−/− (3.8–4.4 µm) all had significantly longer cilia compared to the pool of control cells (3.61 µm).\" https://doi.org/10.3390/ijms22031345. \" BBS5 variants identified in our patient led to a significant decrease of cilium formation and a longer cilia length.\" (PMID: 37240074)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane, Transcription regulation, Cilia length regulation", "reference": "15137946, 20603001, 17574030, 22072986, 25982971, https://doi.org/10.3390/ijms22031345, PMID: 37240074 ,25982971", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8", "PKD1"], "pfam_ids": "PF07289", "domain_descriptions": ["BBSome complex member BBS5", "BBSome complex member BBS5", "PH domain", "BBSome complex member BBS5/sex-determination protein fem-3", "PH-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000163093", "synonym": "DKFZP762I194", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs5", "ortholog_c_elegans": "bbs-5", "ortholog_xenopus": "bbs5", "ortholog_zebrafish": "bbs5", "ortholog_drosophila": "BBS5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.0787, "sd_percent_ciliated": 0.0931, "z_score": -0.2339 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 68.2, "sd_percent_ciliated": 68.2, "z_score": 68.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.1587, "sd_percent_ciliated": -3.1587, "z_score": -3.1587 } ] }, { "gene": "BBS7", "ensembl_id": "ENSG00000138686", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "Bardet-Biedl syndrome 7 [Source:HGNC Symbol,Acc:HGNC:18758]", "omim_id": "607590", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 7) OMIM 607590 PMID:12567324. Forms part of BBSome important for RAB8-mediated membrane protein trafficking 20603001, PMID:17574030, PMID:22072986. \"Compared to controls, Bbs7−/− mice show a greatly reduced number of ependymal cell cilia and the remaining cilia are shorter\" (PMID: 23572516)", "localization": "basal body, cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transcription regulation", "reference": "12567324, 20603001, 17574030, 22072986, 12567324, PMID: 23572516 ,12567324", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8", "BBS10", "BBS12", "CCT2", "CCT3", "CCT4", "CCT5", "CCT8", "MKKS", "TCP1"], "pfam_ids": ["PF23360", "PF23743", "PF23361", "PF23349", "PF23372"], "domain_descriptions": ["WD40/YVTN repeat-like-containing domain superfamily", "Bardet-Biedl syndrome 7 protein", "WD40-repeat-containing domain superfamily", "BBS7", "C-terminal helical hairpin", "BBS7", "beta-propeller", "BBS7", "platform domain", "BBS7", "GAE domain", "BBS7", "helical hairpin"], "string_link": "https://string-db.org/network/9606/ENSG00000138686", "synonym": "BBS2L1, FLJ10715", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs7", "ortholog_c_elegans": "osm-12", "ortholog_xenopus": "bbs7", "ortholog_zebrafish": "bbs7", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.7513, "sd_percent_ciliated": 1.5041, "z_score": 0.6957 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 32.6, "sd_percent_ciliated": 32.6, "z_score": 32.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0951, "sd_percent_ciliated": -1.0951, "z_score": -1.0951 } ] }, { "gene": "BBS9", "ensembl_id": "ENSG00000122507", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "Bardet-Biedl syndrome 9 [Source:HGNC Symbol,Acc:HGNC:30000]", "omim_id": "607968", "functional_summary": "Mutated in Bardet-Biedl syndrome (type 7) OMIM 607968 PMID:16380913. Forms part of BBSome, important for RAB8-mediated membrane protein trafficking. Complex-organizing subunit of BBSome. 20603001, PMID:17574030, PMID:22072986. \"Knockdown of bbs9 also causes reduced number and length of cilia in Kupffer's vesicle\" (PMID: 22479622)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Ciliary membrane, Transition zone", "reference": "16380913, 20603001, 17574030, 22072986, 16380913, 33771153, PMID: 22479622 ,16380913, 33771153", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8"], "pfam_ids": ["PF14728", "PF23338", "PF23337", "PF23339", "PF14727"], "domain_descriptions": ["Parathyroid hormone-responsive B1", "PTHB1", "N-terminal domain", "PTHB1", "GAE domain", "PTHB1", "platform domain", "PTHB1", "hairpin domain", "PTHB1", "C-terminal helix bundle domain"], "string_link": "https://string-db.org/network/9606/ENSG00000122507", "synonym": "B1, PTHB1", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Bbs9", "ortholog_c_elegans": "bbs-9", "ortholog_xenopus": "bbs9", "ortholog_zebrafish": "bbs9", "ortholog_drosophila": "BBS9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 65.6, "sd_percent_ciliated": 65.6, "z_score": 65.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0753, "sd_percent_ciliated": -1.0753, "z_score": -1.0753, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BCAS2", "ensembl_id": "ENSG00000116752", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BCAS2 pre-mRNA processing factor [Source:HGNC Symbol,Acc:HGNC:975]", "omim_id": "605783", "functional_summary": "In the CHOL tissues, CEP250 colocalized with spliceosome components BUD31 and BCAS2, centrosome-associated spliceosome components (37250316). Centrosomes and cilia act as anchor for cell-type specific spliceosome components, and provide a helpful reference for explore cytoplasmic condensates functions in defining cell identity and in the origin of rare diseases.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "3.7250316E7", "complex_components": ["BCAS2", "CDC5L", "GCN1", "HSPA8", "PLRG1", "PRPF19", "BZW1", "CWC15", "DYNC1H1", "ILF2", "PPM1D", "PPP1CA", "PRKDC", "RBMX", "SCAF8", "SF3B1", "SF3B2", "SF3B4", "SFI1", "SFPQ", "SNRPA", "SNRPA1", "SNRPD1", "SNRPD2", "SNRPD3", "SRRM1", "SRSF1", "SRSF2", "TCF4", "TOP2A", "WRN", "CTNNBL1", "AQR", "BUD31", "CASC3", "CDC40", "CRNKL1", "CWC22", "CWC25", "DHX38", "EFTUD2", "EIF4A3", "ISY1", "MAGOH", "PPIE", "PPIG", "PPIL1", "PPWD1", "PRPF8", "RBM22", "RBM8A", "SNRNP200", "SNRPB", "SNRPB2", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM2", "SYF2", "XAB2", "YJU2", "ACIN1", "AGGF1", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDK11A", "CFAP20", "CHERP", "CIRBP", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HTATSF1", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PNN", "PPP1R8", "PQBP1", "PRCC", "PRPF3", "PRPF40A", "PRPF6", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B3", "SF3B5", "SF3B6", "SMNDC1", "SNRNP70", "SNRPC", "SRRT", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207", "ACTBL2", "ACTL6A", "ALYREF", "ARID1A", "ARID1B", "ARID2", "CHD4", "CHD8", "CPSF1", "CPSF6", "CPSF7", "DDX20", "DDX39A", "DDX39B", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPL", "HNRNPM", "KHSRP", "LSM4", "LUC7L2", "LUC7L3", "MTREX", "NUDT21", "PBRM1", "PCBP2", "PPIH", "PRPF31", "PRPF4", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART3", "SCAF4", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP40", "SREK1", "SRSF11", "SRSF8", "STRAP", "USP39", "ZCCHC8"], "pfam_ids": "PF05700", "domain_descriptions": "Pre-mRNA-splicing factor SPF27", "string_link": "https://string-db.org/network/9606/ENSG00000116752", "synonym": "DAM1, SNT309, SPF27", "ortholog_mouse": "Bcas2", "ortholog_c_elegans": "bcas-2", "ortholog_xenopus": "bcas2", "ortholog_zebrafish": "bcas2", "ortholog_drosophila": "BCAS2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.6579, "sd_percent_ciliated": 1.7156, "z_score": -0.6484 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 35.5, "sd_percent_ciliated": 35.5, "z_score": 35.5 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2257, "sd_percent_ciliated": 0.2257, "z_score": 0.2257 } ] }, { "gene": "BCL3", "ensembl_id": "ENSG00000069399", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BCL3 transcription coactivator [Source:HGNC Symbol,Acc:HGNC:998]", "omim_id": "109560", "functional_summary": "BCL3 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["BCL3", "ESR1", "NCOA3", "RELA"], "pfam_ids": ["PF00023", "PF12796"], "domain_descriptions": ["Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "NF-kappa-B Inhibitor"], "string_link": "https://string-db.org/network/9606/ENSG00000069399", "synonym": "BCL4, D19S37", "ortholog_mouse": "Bcl3", "ortholog_c_elegans": "ikb-1", "ortholog_xenopus": "bcl3", "ortholog_zebrafish": "bcl3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.5618, "sd_percent_ciliated": 6.8707, "z_score": 0.915 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.14, "sd_percent_ciliated": 0.14, "z_score": 0.14 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2315, "sd_percent_ciliated": -0.2315, "z_score": -0.2315 } ] }, { "gene": "BCS1L", "ensembl_id": "ENSG00000074582", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Source:HGNC Symbol,Acc:HGNC:1020]", "omim_id": "603647", "functional_summary": "BCS1L has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF08740", "PF00004"], "domain_descriptions": ["BCS1", "N-terminal", "ATPase", "AAA-type", "core", "P-loop containing nucleoside triphosphate hydrolase", "Mitochondrial chaperone BCS1 subfamily", "AAA+ ATPase domain", "ATPase", "AAA-type", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000074582", "synonym": "BCS, BJS, H-BCS, HS.6719", "ortholog_mouse": "Bcs1l", "ortholog_c_elegans": "bcs-1", "ortholog_xenopus": "bcs1l", "ortholog_zebrafish": "bcs1l", "ortholog_drosophila": "Bcs1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.9601, "z_score": 0.46, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.4029, "z_score": 2.1074, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.6409 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 8.04, "z_score": 8.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 8.04 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0388, "z_score": 0.0388, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.0388 } ] }, { "gene": "BDNF", "ensembl_id": "ENSG00000176697", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "brain derived neurotrophic factor [Source:HGNC Symbol,Acc:HGNC:1033]", "omim_id": "113505", "functional_summary": "TrkB is localized to the axonemes or basal bodies of cilia only in the presence of BDNF ( 24867303).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "2.4867303E7", "complex_components": {}, "pfam_ids": "PF00243", "domain_descriptions": ["Nerve growth factor-related", "Nerve growth factor conserved site", "Nerve growth factor-like", "Brain-derived neurotrophic factor", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000176697", "ortholog_mouse": "Bdnf", "ortholog_xenopus": "bdnf", "ortholog_zebrafish": "bdnf", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.0336, "sd_percent_ciliated": 2.8162, "z_score": -1.0875, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6113, "sd_percent_ciliated": -2.6113, "z_score": -2.6113, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BEAN1", "ensembl_id": "ENSG00000166546", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "brain expressed associated with NEDD4 1 [Source:HGNC Symbol,Acc:HGNC:24160]", "omim_id": "612051", "functional_summary": "Mutations in the BEAN1 gene cause Spinocerebellar Ataxia (PMID: 19878914).", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "1.9878914E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000166546", "synonym": "SCA31", "ortholog_mouse": "Bean1", "ortholog_xenopus": "bean1", "ortholog_zebrafish": "bean1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "BEST1", "ensembl_id": "ENSG00000167995", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "bestrophin 1 [Source:HGNC Symbol,Acc:HGNC:12703]", "omim_id": "607854", "functional_summary": "Mutations in the BEST1 gene cause Retinitis Pigmentosa (PMID: 19853238).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9853238E7", "complex_components": ["BEST1", "PPP2CA", "PPP2R1A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000167995", "synonym": "BEST, BMD, RP50, VMD2", "ortholog_mouse": "Best1", "ortholog_c_elegans": "best-24", "ortholog_xenopus": "best1", "ortholog_zebrafish": "best1", "ortholog_drosophila": "Best1, Best2, Best3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0312, "sd_percent_ciliated": -0.0312, "z_score": -0.0312, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BEST2", "ensembl_id": "ENSG00000039987", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "bestrophin 2 [Source:HGNC Symbol,Acc:HGNC:17107]", "omim_id": "607335", "functional_summary": "The Bestrophin channel 2, Best2, was also detected in mouse cilia and ClCa4l, belonging to the ClCa family of Ca(2+)-activated Cl(-) channels, were found in rat cilia (27113933).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7113933E7", "complex_components": {}, "pfam_ids": "PF01062", "domain_descriptions": ["Bestrophin", "Bestrophin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000039987", "synonym": "FLJ20132, VMD2L1", "ortholog_mouse": "Best2", "ortholog_c_elegans": "best-1, best-15, best-17, best-18, best-2, best-21, best-22, best-23, best-24, best-5, best-7", "ortholog_xenopus": "best2", "ortholog_zebrafish": "best2", "ortholog_drosophila": "Best1, Best2, Best3, Best4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.29, "sd_percent_ciliated": 1.29, "z_score": 1.29, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.394, "sd_percent_ciliated": 0.394, "z_score": 0.394, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BEX1", "ensembl_id": "ENSG00000133169", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "brain expressed X-linked 1 [Source:HGNC Symbol,Acc:HGNC:1036]", "omim_id": "300690", "functional_summary": "Bex1 plays an essential role in tubulin polymerization and primary cilia formation. The apical Bex1 localizes to the basal body. Bex1 knockout mice present ciliopathy phenotypes and exhibit ciliary defects in the reti and striatum (35144600).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "35144600, DOI:10.1186/s12915-022-01246-x", "complex_components": {}, "pfam_ids": "PF04538", "domain_descriptions": ["Brain-expressed X-linked protein", "Transcription elongation factor A-like/Brain expressed X-linked"], "string_link": "https://string-db.org/network/9606/ENSG00000133169", "ortholog_mouse": "Bex1, Bex2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.5671, "sd_percent_ciliated": 8.9999, "z_score": -0.7805, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.689, "sd_percent_ciliated": 0.689, "z_score": 0.689, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9483, "sd_percent_ciliated": -0.9483, "z_score": -0.9483, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BICC1", "ensembl_id": "ENSG00000122870", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BicC family RNA binding protein 1 [Source:HGNC Symbol,Acc:HGNC:19351]", "omim_id": "614295", "functional_summary": "Localization of BICC1 in cilia is controversial. Targeted i ctivation of BicC randomizes left-right (LR) asymmetry by disrupting the pla r alignment of motile cilia required for cilia-driven fluid flow. Depending on its SAM domain, BicC can uncouple Dvl2 sig ling from the canonical Wnt pathway. The SAM domain concentrates BicC in cytoplasmic structures harboring R -processing bodies (P-bodies) and Dvl2. BicC links the orientation of cilia with PCP, possibly by regulating R silencing in P-bodies (19666828).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "1.9666828E7", "complex_components": {}, "pfam_ids": ["PF24234", "PF00013", "PF22985", "PF00536"], "domain_descriptions": ["Sterile alpha motif domain", "K Homology domain", "K Homology domain", "type 1", "Sterile alpha motif/pointed domain superfamily", "K Homology domain", "type 1 superfamily", "BICC1", "SAM domain", "BICC1", "first type I KH domain", "BICC1", "third type I KH domain", "BICC1", "second type I KH", "Protein bicaudal C homolog 1", "KH-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000122870", "ortholog_mouse": "Bicc1", "ortholog_c_elegans": "bcc-1", "ortholog_xenopus": "bicc1", "ortholog_zebrafish": "bicc1a, bicc1b", "ortholog_drosophila": "BicC", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.1879, "sd_percent_ciliated": 17.9504, "z_score": -0.9476, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5713, "sd_percent_ciliated": -0.5713, "z_score": -0.5713, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BICD2", "ensembl_id": "ENSG00000185963", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number/Increased Cilia Number", "description": "BICD cargo adaptor 2 [Source:HGNC Symbol,Acc:HGNC:17208]", "omim_id": "609797", "functional_summary": "BICD2 mainly localizes to the Golgi complex and has properties of a peripheral coat protein, yet it also co-localizes with dy ctin at microtubule plus ends and BICD2 plays a role in the dynein- dy ctin interaction on the surface of membranous organelles (11483508). BICD2 specifically concentrated around centrosomes at the base of cilia(24614806). \"BICD2 depletion leads to a significant reduction in ciliation\" \"overexpressing BICD2, revealing a significant promotion of ciliogenesis\" (PMID: 38526325)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "11483508 , 24614806, PMID: 38526325", "complex_components": ["BICD2", "DCTN1", "DYNC1I1"], "pfam_ids": "PF09730", "domain_descriptions": "Bicaudal-D protein", "string_link": "https://string-db.org/network/9606/ENSG00000185963", "synonym": "KIAA0699", "ortholog_mouse": "Bicd2", "ortholog_c_elegans": "bicd-1", "ortholog_xenopus": "bicd2", "ortholog_zebrafish": "bicd2, zgc:171572", "ortholog_drosophila": "BicD", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 21.2567, "sd_percent_ciliated": 3.6948, "z_score": -2.0297 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.64, "sd_percent_ciliated": 1.64, "z_score": 1.64 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.4731, "sd_percent_ciliated": 0.4731, "z_score": 0.4731 } ] }, { "gene": "BIRC5", "ensembl_id": "ENSG00000089685", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "baculoviral IAP repeat containing 5 [Source:HGNC Symbol,Acc:HGNC:593]", "omim_id": "603352", "functional_summary": "Survivin(BIRC5) is expressed only during cell division, survivin was co-localized at the mitotic plate and/or kinetochore in metaphase, whereas it was localized at the mid-body at late telophase, and co-localized with acetylated-a-tubulin. Survivin has an important role in the genomic instability observed in cilia mutant cells in vitro and in vivo ( 21041232).", "localization": "Ciliary associated gene, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation", "reference": "2.1041232E7", "complex_components": ["AURKB", "BIRC5", "EVI5", "INCENP", "XPO1", "CDCA8", "AURKA", "RASA1", "XIAP"], "pfam_ids": "PF00653", "domain_descriptions": ["BIR repeat", "Baculoviral IAP repeat-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000089685", "synonym": "API4, EPR-1, SURVIVIN", "ortholog_mouse": "Birc5", "ortholog_c_elegans": "bir-1, bir-2", "ortholog_xenopus": "birc5", "ortholog_zebrafish": "birc5a, birc5b", "ortholog_drosophila": "Det", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.8921, "z_score": -1.3673, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 21.6398, "z_score": -1.9833, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.9268 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12, "z_score": 12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 12 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3588, "z_score": -6.3588, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.3588 } ] }, { "gene": "BIVM", "ensembl_id": "ENSG00000134897", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "basic, immunoglobulin-like variable motif containing [Source:HGNC Symbol,Acc:HGNC:16034]", "omim_id": "619006", "functional_summary": "BIVM localizes to the base of cilia (basal body and centriole) (28460059).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8460059E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000134897", "synonym": "FLJ20159", "ortholog_mouse": "Bivm", "ortholog_xenopus": "bivm", "ortholog_zebrafish": "bivm", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.2137, "sd_percent_ciliated": 11.0758, "z_score": -0.4599 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4751, "sd_percent_ciliated": -3.4751, "z_score": -3.4751 } ] }, { "gene": "BLOC1S1", "ensembl_id": "ENSG00000135441", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "biogenesis of lysosomal organelles complex 1 subunit 1 [Source:HGNC Symbol;Acc:HGNC:4200]", "omim_id": "601444", "functional_summary": "BLOC1S1 is required for trafficking from endosomes to primary cilia(28576874).", "localization": "Ciliary associated gene, lysosome, endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "2.8576874E7", "complex_components": ["BLOC1S1", "BLOC1S2", "BLOC1S3", "BLOC1S4", "BLOC1S5", "BLOC1S6", "DTNBP1", "SNAPIN", "Bloc1s1", "Bloc1s2", "Bloc1s3", "Bloc1s4", "Bloc1s5", "Bloc1s6", "Dtnbp1", "Snapin", "AP3B1", "AP3D1", "AP3M1", "AP3S1", "HPS3", "HPS5", "HPS6", "BORCS5", "BORCS6", "BORCS7", "BORCS8", "KXD1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000135441", "synonym": "BLOS1; BORCS1; GCN5L1", "ortholog_mouse": "Bloc1s1", "ortholog_c_elegans": "blos-1", "ortholog_xenopus": "bloc1s1", "ortholog_zebrafish": "bloc1s1", "ortholog_drosophila": "Blos1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.3578, "sd_percent_ciliated": 9.4878, "z_score": 0.0422 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 40.3, "sd_percent_ciliated": 40.3, "z_score": 40.3 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9775, "sd_percent_ciliated": -0.9775, "z_score": -0.9775 } ] }, { "gene": "BLOC1S6", "ensembl_id": "ENSG00000104164", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "biogenesis of lysosomal organelles complex 1 subunit 6 [Source:HGNC Symbol,Acc:HGNC:8549]", "omim_id": "604310", "functional_summary": "Required for polycystin-2 trafficking to cilium, partially dependent on IFT20(28576874).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Protein processing & maturation", "reference": "2.8576874E7", "complex_components": ["BLOC1S1", "BLOC1S2", "BLOC1S3", "BLOC1S4", "BLOC1S5", "BLOC1S6", "DTNBP1", "SNAPIN", "Bloc1s1", "Bloc1s2", "Bloc1s3", "Bloc1s4", "Bloc1s5", "Bloc1s6", "Dtnbp1", "Snapin", "AP3B1", "AP3D1", "AP3M1", "AP3S1", "HPS3", "HPS5", "HPS6", "PI4K2A"], "pfam_ids": "PF14712", "domain_descriptions": ["Snapin/Pallidin/Snn1", "BLOC-1 complex", "pallidin subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000104164", "synonym": "HPS9, PA, PLDN", "ortholog_mouse": "Bloc1s6", "ortholog_xenopus": "bloc1s6", "ortholog_zebrafish": "bloc1s6", "ortholog_drosophila": "Pldn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.76, "sd_percent_ciliated": 8.76, "z_score": 8.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "BMP2", "ensembl_id": "ENSG00000125845", "overexpression_effects": "No Effect", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "No effect/ Reduced Number of Cilia", "description": "bone morphogenetic protein 2 [Source:HGNC Symbol,Acc:HGNC:1069]", "omim_id": "112261", "functional_summary": "BMP2 has localized in transition zone, primary cilia. \"Overexpression of BMP2 by transfection partially rescued the differentiation of IFT80d/d DPSCs (Fig. S4A and S4B). However, BMP2 did not change the cilia length and ciliated cell population\" doi:10.7150/ijbs.27231. \"Supplementation of BMP2 or BMP4 in culture media significantly reduced the number of cells with multiple cilia among the total cells\" DOI:10.1620/tjem.252.199", "localization": "transition zone, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, ECM & connective tissue, Transcription regulation, Cilia length regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273, doi:10.7150/ijbs.27231, DOI:10.1620/tjem.252.199", "complex_components": ["BMP2", "BMP4", "BMPR1A", "CHRDL2", "TWSG1"], "pfam_ids": ["PF00019", "PF00688"], "domain_descriptions": ["TGF-beta", "propeptide", "Transforming growth factor-beta", "C-terminal", "Transforming growth factor-beta-related", "Transforming growth factor beta", "conserved site", "Cystine-knot cytokine", "Bone morphogenetic protein 2", "TGF-beta-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000125845", "synonym": "BMP2A", "ortholog_mouse": "Bmp2", "ortholog_c_elegans": "dbl-1", "ortholog_xenopus": "bmp2", "ortholog_zebrafish": "bmp2a, bmp2b", "ortholog_drosophila": "dpp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.109, "sd_percent_ciliated": 4.6174, "z_score": 0.8602 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.484, "sd_percent_ciliated": 0.484, "z_score": 0.484 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4418, "sd_percent_ciliated": -0.4418, "z_score": -0.4418 } ] }, { "gene": "BMP4", "ensembl_id": "ENSG00000125378", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "bone morphogenetic protein 4 [Source:HGNC Symbol,Acc:HGNC:1071]", "omim_id": "112262", "functional_summary": "Supplementation of BMP2 or BMP4 in culture media significantly reduced the number of cells with multiple cilia among the total cells, while most of the cells expressed FoxJ1, a master regulator of ciliogenesis( 33087680).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "3.308768E7", "complex_components": ["BMP4", "TWSG1", "BGN", "BMP2", "BMPR1A"], "pfam_ids": ["PF00019", "PF00688"], "domain_descriptions": ["TGF-beta", "propeptide", "Transforming growth factor-beta", "C-terminal", "Transforming growth factor-beta-related", "Transforming growth factor beta", "conserved site", "Cystine-knot cytokine", "Bone morphogenetic protein 4", "TGF-beta-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000125378", "synonym": "BMP2B", "ortholog_mouse": "Bmp4", "ortholog_c_elegans": "dbl-1", "ortholog_xenopus": "bmp4", "ortholog_zebrafish": "bmp4", "ortholog_drosophila": "dpp", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.1492, "sd_percent_ciliated": 3.7039, "z_score": -0.3465, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.3, "sd_percent_ciliated": 1.3, "z_score": 1.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6215, "sd_percent_ciliated": -2.6215, "z_score": -2.6215, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BMPR2", "ensembl_id": "ENSG00000204217", "overexpression_effects": "Not Reported", "lof_effects": "Longer Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "bone morphogenetic protein receptor type 2 [Source:HGNC Symbol,Acc:HGNC:1078]", "omim_id": "600799", "functional_summary": "BMP sig ling component, including upregulated gene Bmpr2 , consistently responded to strain, while Cox2 and Ift88 showed differential regulation depending on strain intensity. \"BMPR2 knockdown cells had significantly fewer cilia formation than the control cells, BMPR2 knockdown cells had longer cilia when cilia were ever formed.\" https://doi.org/10.1002/advs.201903140", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, ECM & connective tissue, Transcription regulation", "reference": "39684361, https://doi.org/10.1002/advs.201903140", "complex_components": ["ACVR1", "BMPR2"], "pfam_ids": ["PF01064", "PF00069"], "domain_descriptions": ["Ser/Thr protein kinase", "TGFB receptor", "Activin types I and II receptor domain", "Protein kinase domain", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Snake toxin-like superfamily", "Transforming growth factor-beta receptor", "type II"], "string_link": "https://string-db.org/network/9606/ENSG00000204217", "synonym": "BMPR-II, BMPR3, BRK-3, PPH1, T-ALK", "ortholog_mouse": "Bmpr2", "ortholog_xenopus": "bmpr2", "ortholog_zebrafish": "bmpr2a, bmpr2b", "ortholog_drosophila": "wit", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.8717, "sd_percent_ciliated": 8.9743, "z_score": -1.2282 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.62, "sd_percent_ciliated": 3.62, "z_score": 3.62 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.6996, "sd_percent_ciliated": -4.6996, "z_score": -4.6996 } ] }, { "gene": "BOLL", "ensembl_id": "ENSG00000152430", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "boule homolog, RNA binding protein [Source:HGNC Symbol,Acc:HGNC:14273]", "omim_id": "606165", "functional_summary": "BOLL localized to flagella(25613900)", "localization": "flagella", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF00076", "domain_descriptions": ["RNA recognition motif domain", "Nucleotide-binding alpha-beta plait domain superfamily", "RNA-binding domain superfamily", "DAZ domain"], "string_link": "https://string-db.org/network/9606/ENSG00000152430", "synonym": "BOULE", "ortholog_mouse": "Boll", "ortholog_c_elegans": "daz-1", "ortholog_drosophila": "bol", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.6126, "sd_percent_ciliated": 6.7513, "z_score": 0.1942, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.12, "sd_percent_ciliated": 1.12, "z_score": 1.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.204, "sd_percent_ciliated": -4.204, "z_score": -4.204, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BRAF", "ensembl_id": "ENSG00000157764", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "B-Raf proto-oncogene, serine/threonine kinase [Source:HGNC Symbol,Acc:HGNC:1097]", "omim_id": "164757", "functional_summary": "Cross-reactivity of the BRAF VE1 antibody with epitopes in axonemal dyneins leads to staining of cilia(25412847).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5412847E7", "complex_components": ["BRAF", "MAP2K1", "MAP2K2", "YWHAE", "KSR1", "RAF1", "YWHAZ", "CNKSR1", "MITF"], "pfam_ids": ["PF07714", "PF00130", "PF02196"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Raf-like Ras-binding", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Diacylglycerol/phorbol-ester binding", "Ubiquitin-like domain superfamily", "C1-like domain superfamily", "Serine/Threonine Kinases and Pseudokinases"], "string_link": "https://string-db.org/network/9606/ENSG00000157764", "synonym": "BRAF-1, BRAF1", "ortholog_mouse": "Braf", "ortholog_c_elegans": "lin-45", "ortholog_xenopus": "braf", "ortholog_zebrafish": "braf", "ortholog_drosophila": "Raf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.2427, "sd_percent_ciliated": 7.233, "z_score": 1.4822 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.63, "sd_percent_ciliated": 8.63, "z_score": 8.63 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8649, "sd_percent_ciliated": -0.8649, "z_score": -0.8649 } ] }, { "gene": "BRCA1", "ensembl_id": "ENSG00000012048", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BRCA1 DNA repair associated [Source:HGNC Symbol,Acc:HGNC:1100]", "omim_id": "113705", "functional_summary": "N-termi l region of BRCA1, and 纬-tubulin, associated with BARD1, and localized the centrosomes throughout the cell cycle., RACK1 is required for the proper centrosomal localization of BRCA1 (30617304).", "localization": "basal body, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0617304E7", "complex_components": ["BARD1", "BRCA1", "ACTL6A", "ARID1A", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD2", "SMARCE1", "RBBP8", "ZNF350", "BRIP1", "ATM", "BLM", "MLH1", "MRE11", "MSH2", "MSH6", "NBN", "RAD50", "RFC1", "RFC2", "RFC4", "KAT2A", "SUPT3H", "TADA3", "TAF10", "TAF5L", "TAF9", "TRRAP", "CDC6", "GMNN", "ORC1", "CSTF1", "CSTF2", "CSTF3", "POLR2A", "LDB1", "LMO4", "POLR2B", "POLR2C", "POLR2D", "POLR2E", "POLR2F", "POLR2G", "POLR2H", "POLR2I", "POLR2J", "POLR2K", "POLR2L", "ABRAXAS1", "UIMC1", "BACH1", "ABL1", "SMAD3", "HDAC1", "HDAC2", "TOPBP1", "BRCA2", "CTBP1", "VCP", "UBE2D3", "UBE2L3", "RAD51", "ERCC2", "ERCC3", "GTF2B", "GTF2E1", "GTF2E2", "GTF2F1", "GTF2F2", "GTF2H1", "GTF2H2", "GTF2H3", "GTF2H4", "MED21", "TBP", "BABAM2", "BRCC3", "PALB2", "H2BC26", "IFI16", "AR", "ESR1"], "pfam_ids": ["PF00533", "PF12820", "PF13445", "PF00097"], "domain_descriptions": ["BRCT domain", "Breast cancer type 1 susceptibility protein (BRCA1)", "BRCA1", "serine-rich domain", "BRCA1-associated", "BRCT domain superfamily", "Zinc finger", "RING/FYVE/PHD-type", "Zinc finger", "RING-type", "eukaryotic", "Zinc finger", "RING-type", "Zinc finger", "RING-type", "conserved site", "Zinc finger", "C3HC4 RING-type"], "string_link": "https://string-db.org/network/9606/ENSG00000012048", "synonym": "BRCC1, FANCS, PPP1R53, RNF53", "ortholog_mouse": "Brca1", "ortholog_c_elegans": "brc-1", "ortholog_xenopus": "brca1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 55.0275, "sd_percent_ciliated": 1.049, "z_score": 2.0619 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.06, "sd_percent_ciliated": 7.06, "z_score": 7.06 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.3773, "sd_percent_ciliated": -6.3773, "z_score": -6.3773 } ] }, { "gene": "BRCA2", "ensembl_id": "ENSG00000139618", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BRCA2 DNA repair associated [Source:HGNC Symbol,Acc:HGNC:1101]", "omim_id": "600185", "functional_summary": "The centriolar BRCA2 interactor, centrobin, has a role in controlling primary cilium formation through a C-termi l tubulin- and CP110-interacting region ( 29440264).", "localization": "Ciliary associated gene, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation", "reference": "29440264, 15689453 ,15689453", "complex_components": ["BRCA2", "HDAC1", "HDAC2", "HMG20B", "KDM1A", "PHF21A", "RCOR1", "INTS10", "INTS11", "INTS2", "INTS4", "INTS5", "INTS6", "INTS7", "INTS8", "INTS9", "LENG8", "SAC3D1", "SEM1", "BARD1", "BRCA1", "BABAM2", "BRCC3", "RAD51", "FANCD2", "FANCG", "XRCC3", "PALB2", "RAD51C", "AR", "NPM1", "ROCK2"], "pfam_ids": ["PF09103", "PF09121", "PF09169", "PF21318", "PF00634", "PF22687", "PF09104"], "domain_descriptions": ["BRCA2 repeat", "Nucleic acid-binding", "OB-fold", "BRCA2", "OB1", "BRCA2", "OB3", "Tower domain", "Breast cancer type 2 susceptibility protein", "helical domain", "Breast cancer type 2 susceptibility protein", "BRCA2 helical domain superfamily", "BRCA2", "OB2 domain", "BRCA2", "TR2 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000139618", "synonym": "BRCC2, FACD, FAD, FAD1, FANCD, FANCD1, XRCC11", "ciliopathy": "Medulloblastoma", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Brca2", "ortholog_xenopus": "brca2", "ortholog_zebrafish": "brca2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.6964, "sd_percent_ciliated": 1.4883, "z_score": 1.2948 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.79, "sd_percent_ciliated": 3.79, "z_score": 3.79 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.6423, "sd_percent_ciliated": -7.6423, "z_score": -7.6423 } ] }, { "gene": "BRD2", "ensembl_id": "ENSG00000235307", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "bromodomain containing 2 [Source:HGNC Symbol,Acc:HGNC:1103]", "omim_id": "601540", "functional_summary": "Mutations in the BRD2 gene cause Juvenile Myoclonic Epilepsy (PMID: 22787611).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Transcription regulation", "reference": "22787611 ,22787611", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000235307", "synonym": "BRD2-IT1, D6S113E, FSHRG1, KIAA9001, NAT, RING3", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Brd2", "ortholog_c_elegans": "bet-1", "ortholog_xenopus": "brd2", "ortholog_zebrafish": "brd2a, brd2b", "ortholog_drosophila": "fs(1)h, tbrd-1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.6531, "sd_percent_ciliated": 0.2673, "z_score": -0.1643 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 36.7, "sd_percent_ciliated": 36.7, "z_score": 36.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2455, "sd_percent_ciliated": -1.2455, "z_score": -1.2455 } ] }, { "gene": "BRD4", "ensembl_id": "ENSG00000141867", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "bromodomain containing 4 [Source:HGNC Symbol,Acc:HGNC:13575]", "omim_id": "608749", "functional_summary": "Mutations in the BRD4 gene cause Cornelia de Lange Syndrome (PMID: 31168063).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion", "reference": "31168063 ,31168063", "complex_components": ["BRD4", "RFC1", "RFC2", "RFC3", "RFC4", "RFC5", "CCNT1", "CDK9", "MED1", "MED12", "MED14", "MED17", "MED24"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141867", "synonym": "CAP, FSHRG4, HUNK1, HUNKI, MCAP", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Brd4", "ortholog_c_elegans": "bet-1", "ortholog_xenopus": "brd4", "ortholog_zebrafish": "brd4", "ortholog_drosophila": "fs(1)h", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.7692, "sd_percent_ciliated": 10.6757, "z_score": 0.3344 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.791, "sd_percent_ciliated": 0.791, "z_score": 0.791 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8009, "sd_percent_ciliated": -2.8009, "z_score": -2.8009 } ] }, { "gene": "BRWD1", "ensembl_id": "ENSG00000185658", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "bromodomain and WD repeat domain containing 1 [Source:HGNC Symbol,Acc:HGNC:12760]", "omim_id": "617824", "functional_summary": "BRWD1 staining was detected in the whole flagella and respiratory cilia of normal controls but was absent in BRWD1-mutated individuals. (33389130).", "localization": "flagella , cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Ciliary membrane", "reference": "33389130, 33389130 ,33389130", "complex_components": {}, "pfam_ids": ["PF00400", "PF00439"], "domain_descriptions": ["Bromodomain", "WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Bromodomain", "conserved site", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "Bromodomain-like superfamily", "Bromodomain and WD repeat-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000185658", "synonym": "C21ORF107, DCAF19, FLJ11315, N143, WDR9", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Brwd1", "ortholog_xenopus": "brwd1", "ortholog_zebrafish": "brwd1", "ortholog_drosophila": "BRWD3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.71, "sd_percent_ciliated": 4.71, "z_score": 4.71, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.3211, "sd_percent_ciliated": -7.3211, "z_score": -7.3211, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BUB1", "ensembl_id": "ENSG00000169679", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BUB1 mitotic checkpoint serine/threonine kinase [Source:HGNC Symbol,Acc:HGNC:1148]", "omim_id": "602452", "functional_summary": "BioID2-tagged BUB1, BUB3, BUBR1, MAD1L1, and MAD2L1 localized to kinetochores, overlapping fluorescence sig l with anticentromere antibodies (ACA) during prometaphase. BUB1 ki se activity was important for its proper localization to kinetochores and for the localization of the Astrin–Ki strin minor complex components PLK1 and SGO2 to the kinetochore ( 34087075). The Astrin–Ki strin complex is important for aligning and attaching to kinetochores.", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.4087075E7", "complex_components": ["BUB1", "BUB3"], "pfam_ids": ["PF08311", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Mad3/Bub1 homology region 1", "Mitotic spindle checkpoint protein Bub1/Mad3", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000169679", "synonym": "BUB1A, BUB1L, HBUB1", "ortholog_mouse": "Bub1", "ortholog_c_elegans": "bub-1", "ortholog_xenopus": "bub1", "ortholog_zebrafish": "bub1", "ortholog_drosophila": "Bub1, BubR1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.4465, "sd_percent_ciliated": 3.6577, "z_score": 0.4164 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.57, "sd_percent_ciliated": 2.57, "z_score": 2.57 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.0338, "sd_percent_ciliated": -5.0338, "z_score": -5.0338 } ] }, { "gene": "BUB1B", "ensembl_id": "ENSG00000156970", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "BUB1 mitotic checkpoint serine/threonine kinase B [Source:HGNC Symbol,Acc:HGNC:1149]", "omim_id": "602860", "functional_summary": "BUB1B has localized in basal body. \"Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.\" (PMID: 21389084)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273, PMID: 21389084", "complex_components": ["BUB1B", "BUB3", "CDC20", "MAD2L1"], "pfam_ids": "PF08311", "domain_descriptions": ["Protein kinase-like domain superfamily", "Mad3/Bub1 homology region 1", "Mitotic spindle checkpoint protein Bub1/Mad3"], "string_link": "https://string-db.org/network/9606/ENSG00000156970", "synonym": "BUB1A, BUBR1, MAD3L, SSK1", "ortholog_mouse": "Bub1b", "ortholog_xenopus": "bub1b", "ortholog_zebrafish": "bub1ba, bub1bb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.4807, "sd_percent_ciliated": 0.0854, "z_score": -0.4275, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.18, "sd_percent_ciliated": 7.18, "z_score": 7.18, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0302, "sd_percent_ciliated": -6.0302, "z_score": -6.0302, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "BUD31", "ensembl_id": "ENSG00000106245", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "BUD31 homolog [Source:HGNC Symbol,Acc:HGNC:29629]", "functional_summary": "In the CHOL tissues, CEP250 colocalized with spliceosome components BUD31 and BCAS2, centrosome-associated spliceosome components. A component of the nuclear spliceosome BUD31 was validated as an interactor of the centriolar satellite protein OFD1. (37250316).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "3.7250316E7", "complex_components": ["AQR", "BCAS2", "BUD31", "CASC3", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC25", "DHX38", "EFTUD2", "EIF4A3", "ISY1", "MAGOH", "PLRG1", "PPIE", "PPIG", "PPIL1", "PPWD1", "PRPF19", "PRPF8", "RBM22", "RBM8A", "SNRNP200", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM2", "SYF2", "XAB2", "YJU2"], "pfam_ids": "PF01125", "domain_descriptions": ["Pre-mRNA-splicing factor BUD31", "BUD31/G10-related", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000106245", "synonym": "CWC14, EDG-2, EDG2, FSAP17, G10, YCR063W", "ortholog_mouse": "Bud31", "ortholog_c_elegans": "bud-31", "ortholog_xenopus": "bud31", "ortholog_zebrafish": "bud31", "ortholog_drosophila": "l(1)10Bb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.07, "sd_percent_ciliated": 4.07, "z_score": 4.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3858, "sd_percent_ciliated": -2.3858, "z_score": -2.3858, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "C16orf78", "ensembl_id": "ENSG00000166152", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chromosome 16 open reading frame 78 [Source:HGNC Symbol,Acc:HGNC:28479]", "functional_summary": "C16orf78 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15472", "domain_descriptions": "Protein of Not Reported function DUF4638", "string_link": "https://string-db.org/network/9606/ENSG00000166152", "synonym": "MGC33367", "ortholog_mouse": "4933402J07Rik", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0785, "sd_percent_ciliated": -0.0785, "z_score": -0.0785, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "C21orf58", "ensembl_id": "ENSG00000160298", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chromosome 21 open reading frame 58 [Source:HGNC Symbol,Acc:HGNC:1300]", "functional_summary": "C21orf58 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15248", "domain_descriptions": ["Domain of Not Reported function DUF4587", "Proline-rich protein 29-like"], "string_link": "https://string-db.org/network/9606/ENSG00000160298", "ortholog_mouse": "2610028H24Rik", "ortholog_xenopus": "c9h21orf58", "ortholog_zebrafish": "zgc:112416", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2285, "sd_percent_ciliated": -0.2285, "z_score": -0.2285, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "C2CD3", "ensembl_id": "ENSG00000168014", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "C2 domain containing 3 centriole elongation regulator [Source:HGNC Symbol,Acc:HGNC:24564]", "omim_id": "615944", "functional_summary": "C2cd3 is an essential regulator of intracellular transduction of the Hedgehog sig l (19004860). Regulates primary cilium biogenesis, recruiting centriolar distal appendage proteins. C2cd3 is essential for ciliary vesicle docking (24469809). Promotes centriolar elongation (24997988). \"cilia formation in Hty mutant cells under identical conditions was greatly compromised (Fig. 7E,F) (21% ciliated, n=365). Therefore, C2cd3 is required intrinsically for the formation of cilia.\" (PMID: 19004860)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "19004860, 24469809, 24997988., 24997988, PMID: 19004860 ,24997988", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": "PF00168", "domain_descriptions": ["C2 domain", "C2 domain superfamily", "C2CD3", "C2 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000168014", "synonym": "DKFZP586P0123", "ciliopathy": "Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "C2cd3", "ortholog_xenopus": "c2cd3", "ortholog_zebrafish": "c2cd3", "ortholog_drosophila": "CG32425", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 59.3, "sd_percent_ciliated": 59.3, "z_score": 59.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.1299, "sd_percent_ciliated": -8.1299, "z_score": -8.1299, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "C2CD4C", "ensembl_id": "ENSG00000183186", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "C2 calcium dependent domain containing 4C [Source:HGNC Symbol,Acc:HGNC:29417]", "omim_id": "610336", "functional_summary": "C2CD4C localized ciliary tip", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00168", "domain_descriptions": ["C2 domain", "C2 domain superfamily", "C2 calcium-dependent domain-containing protein 4C/4D"], "string_link": "https://string-db.org/network/9606/ENSG00000183186", "synonym": "FAM148C, KIAA1957, NLF3", "ortholog_mouse": "C2cd4c", "ortholog_xenopus": "c2cd4c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0882, "sd_percent_ciliated": -3.0882, "z_score": -3.0882, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "C4orf17", "ensembl_id": "ENSG00000138813", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chromosome 4 open reading frame 17 [Source:HGNC Symbol,Acc:HGNC:25274]", "functional_summary": "C4orf17 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15256", "domain_descriptions": "Protein TBATA-like", "string_link": "https://string-db.org/network/9606/ENSG00000138813", "synonym": "DKFZP434G072", "ortholog_mouse": "4930579F01Rik", "screens": {} }, { "gene": "C5orf52", "ensembl_id": "ENSG00000187658", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "chromosome 5 open reading frame 52 [Source:HGNC Symbol;Acc:HGNC:35121]", "functional_summary": "In the absence of phenotypic clues, prioritization of the most prevalent six JS genes (TMEM67, C5orf52, CC2D2A, CEP290, AHI1, and KIAA0586), which account for more than half of the individuals with JS in most populations, may be reasonable(PMID: 28125082).", "localization": "Ciliary associated gene, Nucleus", "reference": "2.8125082E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000187658", "ortholog_mouse": "4921536K21Rik", "screens": [] }, { "gene": "C7orf57", "ensembl_id": "ENSG00000164746", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chromosome 7 open reading frame 57 [Source:HGNC Symbol,Acc:HGNC:22247]", "functional_summary": "C7orf57 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF17662", "domain_descriptions": "Protein of Not Reported function DUF5524", "string_link": "https://string-db.org/network/9606/ENSG00000164746", "ortholog_mouse": "Gm11992", "ortholog_xenopus": "c6h7orf57", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9083, "sd_percent_ciliated": -0.9083, "z_score": -0.9083, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "C9", "ensembl_id": "ENSG00000113600", "overexpression_effects": "Not Reported", "lof_effects": "Longer Cilia", "percent_ciliated_cells_effects": "Increased Cilia Number/Reduced Cilia Number", "description": "complement C9 [Source:HGNC Symbol,Acc:HGNC:1358]", "omim_id": "120940", "functional_summary": "The ependymal cells of the injected ventricle showed C9 deposits on the apical surface and cilia in the ependymal cells (27209022). \"Immunofluorescence staining showed that the average incidence of spontaneous primary ciliogenesis was significantly higher in both C9KO cells and S8KO cells than in WT cells (Fig. 1 A–D). Moreover, under serum-starvation conditions, the percentage of ciliated cells increased dramatically in C9KO cells and S8KO cells compared with WT cells (Fig. 1 A–D). We also measured the primary cilium length in cells cultured with or without serum. Both C9KO and S8KO cells exhibited primary cilia with an increased average length (Fig. 1 A–D). Consistently, overexpressing C9orf72 or SMCR8 inhibited primary ciliogenesis (SI Appendix, Fig. S2 A–D).\" https://doi.org/10.1073/pnas.2220496120", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "27209022, https://doi.org/10.1073/pnas.2220496120", "complex_components": ["C5", "C6", "C8A", "C9", "CARD6", "VTN"], "pfam_ids": ["PF00090", "PF01823", "PF00057"], "domain_descriptions": ["Thrombospondin type-1 (TSP1) repeat", "Membrane attack complex component/perforin/complement C9", "Low-density lipoprotein (LDL) receptor class A repeat", "Growth factor receptor cysteine-rich domain superfamily", "Membrane attack complex component/perforin domain", "conserved site", "Membrane attack complex component/perforin (MACPF) domain", "Low-density lipoprotein (LDL) receptor class A", "conserved site", "LDL receptor-like superfamily", "Thrombospondin type-1 (TSP1) repeat superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000113600", "ortholog_mouse": "C9", "ortholog_xenopus": "c9", "ortholog_zebrafish": "c9", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.8483, "sd_percent_ciliated": 3.5566, "z_score": -0.2618, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.63, "sd_percent_ciliated": 0.63, "z_score": 0.63, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.498, "sd_percent_ciliated": 1.498, "z_score": 1.498, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CABCOCO1", "ensembl_id": "ENSG00000183346", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ciliary associated calcium binding coiled-coil 1 [Source:HGNC Symbol,Acc:HGNC:28678]", "functional_summary": "CABCOCO1 is involved in the control of sperm flagellar movement (26990073).", "localization": "basal body, flagella", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "2.6990073E7", "complex_components": {}, "pfam_ids": "PF14769", "domain_descriptions": "Flagellar C1a complex subunit C1a-32", "string_link": "https://string-db.org/network/9606/ENSG00000183346", "synonym": "ARIEL, BA63A2.1, C10ORF107, EM:AC022398.2, MGC44593", "ortholog_mouse": "Cabcoco1", "ortholog_xenopus": "cabcoco1", "ortholog_zebrafish": "cabcoco1", "screens": {} }, { "gene": "CABYR", "ensembl_id": "ENSG00000154040", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium binding tyrosine phosphorylation regulated [Source:HGNC Symbol,Acc:HGNC:15569]", "omim_id": "612135", "functional_summary": "The CABYR CR-A antibody localized to the entire length of the principal piece, and, unlike FSCB, CABYR also extended into the end piece (17855365).", "localization": "flagella, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation", "reference": "1.7855365E7", "complex_components": {}, "pfam_ids": "PF02197", "domain_descriptions": ["cAMP-dependent protein kinase regulatory subunit", "dimerization-anchoring domain", "Calcium-binding tyrosine phosphorylation-regulated protein", "CABYR/SP17", "dimerization domain"], "string_link": "https://string-db.org/network/9606/ENSG00000154040", "synonym": "CBP86, CT88, FSP-2", "ortholog_mouse": "Cabyr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.2778, "sd_percent_ciliated": 5.3194, "z_score": -0.4521 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.677, "sd_percent_ciliated": 0.677, "z_score": 0.677 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.4832, "sd_percent_ciliated": -6.4832, "z_score": -6.4832 } ] }, { "gene": "CACNA1A", "ensembl_id": "ENSG00000141837", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel subunit alpha1 A [Source:HGNC Symbol,Acc:HGNC:1388]", "omim_id": "601011", "functional_summary": "Mutations in the CACNA1A gene cause Spinocerebellar Ataxia (PMID: 19817876).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9817876E7", "complex_components": ["CACNA1A", "GNB1", "GNG2", "CACNA1B", "DYNLT1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141837", "synonym": "APCA, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6", "ortholog_mouse": "Cacna1a, Hpca", "ortholog_c_elegans": "unc-2", "ortholog_xenopus": "cacna1a, hpca", "ortholog_zebrafish": "cacna1aa, cacna1ab, hpca", "ortholog_drosophila": "cac, Nca", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.4432, "sd_percent_ciliated": 4.352, "z_score": 0.0526, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.84, "sd_percent_ciliated": 3.84, "z_score": 3.84, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.8355, "sd_percent_ciliated": 1.8355, "z_score": 1.8355, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CACNA1C", "ensembl_id": "ENSG00000285479", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "No Effect", "description": "calcium voltage-gated channel subunit alpha1 C [Source:HGNC Symbol,Acc:HGNC:1390]", "omim_id": "114205", "functional_summary": "CAC 1C, also called CaV1.2Serves as a modifier gene to cystic kidney phenotype. Plays an important role in Akt and Erk activities through cytosolic calcium and CaM ki se II. CaV1.2 might be a secondary calcium-permeable channel to the polycystins complex (24925129). CaV1.2 expression is regulated through Wnt sig ling and plays an essential sensory role in primary cilia for cellular homeostasis (24700505). \"CaV1.2 knockdown had no effect on cilia length in wildtype cells but shortened cilia in Pkd1-/- and Pkd2-/- cells. \" (PMID: 24925129). \"CaV1.2 is not required for cilia formation\" (PMID: 24700505)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Cilia length regulation", "reference": "24925129, 24700505", "complex_components": ["CACNA1C", "PDE8B", "CALM2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000285479", "synonym": "CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CAV1.2, CCHL1A1, LQT8, TS", "ortholog_mouse": "Cacna1c", "ortholog_c_elegans": "egl-19", "ortholog_xenopus": "cacna1c", "ortholog_zebrafish": "cacna1c", "ortholog_drosophila": "Ca-α1D", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.2093, "sd_percent_ciliated": 5.5243, "z_score": -0.4604, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.859, "sd_percent_ciliated": 0.859, "z_score": 0.859, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.608, "sd_percent_ciliated": -6.608, "z_score": -6.608, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CACNA1E", "ensembl_id": "ENSG00000198216", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel subunit alpha1 E [Source:HGNC Symbol,Acc:HGNC:1392]", "omim_id": "601013", "functional_summary": "Ca(v)2.3 channel plays some roles in Ca2+ transients and the control of flagellar movement (11959138).", "localization": "flagella", "functional_category": "Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1959138E7", "complex_components": {}, "pfam_ids": ["PF00520", "PF16905", "PF08763"], "domain_descriptions": ["Voltage-dependent calcium channel", "alpha-1 subunit", "Voltage-dependent calcium channel", "R-type", "alpha-1 subunit", "Ion transport domain", "Voltage-dependent channel domain superfamily", "Voltage-dependent calcium channel alpha-1 subunit", "EF-hand domain", "Voltage-dependent calcium channel", "alpha-1 subunit", "IQ domain", "Voltage-dependent L-type calcium channel", "IQ-associated domain"], "string_link": "https://string-db.org/network/9606/ENSG00000198216", "synonym": "BII, CACH6, CACNL1A6, CAV2.3", "ortholog_mouse": "Cacna1e", "ortholog_c_elegans": "unc-2", "ortholog_xenopus": "cacna1e", "ortholog_zebrafish": "cacna1eb", "ortholog_drosophila": "cac", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.3773, "sd_percent_ciliated": 1.7879, "z_score": 0.4081 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.179, "sd_percent_ciliated": 0.179, "z_score": 0.179 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.7626, "sd_percent_ciliated": -1.7626, "z_score": -1.7626 } ] }, { "gene": "CACNA1F", "ensembl_id": "ENSG00000102001", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel subunit alpha1 F [Source:HGNC Symbol,Acc:HGNC:1393]", "omim_id": "300110", "functional_summary": "Mutations in the CACNA1F gene cause Cone-Rod Dystrophy (PMID: 16505158).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "16505158 ,16505158", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000102001", "synonym": "AIED, CAV1.4, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cacna1f", "ortholog_c_elegans": "egl-19", "ortholog_xenopus": "cacna1f", "ortholog_zebrafish": "cacna1fa, cacna1fb", "ortholog_drosophila": "Ca-α1D", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.4101, "sd_percent_ciliated": 8.5403, "z_score": 0.412, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2265, "sd_percent_ciliated": -2.2265, "z_score": -2.2265, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CACNA1G", "ensembl_id": "ENSG00000006283", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel subunit alpha1 G [Source:HGNC Symbol,Acc:HGNC:1394]", "omim_id": "604065", "functional_summary": "Mutations in the CACNA1G gene cause Spinocerebellar Ataxia (PMID: 26456284, 26715324).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "26456284, 26715324", "complex_components": ["CACNA1G", "CACNA1S", "CACNA2D1", "CACNB1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000006283", "synonym": "CAV3.1, NBR13", "ortholog_mouse": "Cacna1g", "ortholog_c_elegans": "cca-1", "ortholog_xenopus": "cacna1g", "ortholog_zebrafish": "cacna1g", "ortholog_drosophila": "Ca-α1T", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.9782, "sd_percent_ciliated": 4.6832, "z_score": 0.8443 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.8, "sd_percent_ciliated": 7.8, "z_score": 7.8 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.351, "sd_percent_ciliated": -7.351, "z_score": -7.351 } ] }, { "gene": "CACNA2D2", "ensembl_id": "ENSG00000007402", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel auxiliary subunit alpha2delta 2 [Source:HGNC Symbol,Acc:HGNC:1400]", "omim_id": "607082", "functional_summary": "CAC 2D2 has localized in basal body,flagella.", "localization": "basal body,flagella, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00092", "PF08399", "PF08473"], "domain_descriptions": ["von Willebrand factor", "type A", "VWA N-terminal", "Voltage-dependent calcium channel", "alpha-2/delta subunit", "conserved region", "von Willebrand factor A-like domain superfamily", "Voltage-dependent calcium channel subunit alpha-2/delta"], "string_link": "https://string-db.org/network/9606/ENSG00000007402", "synonym": "ALPHA2DELTA-2, KIAA0558", "ortholog_mouse": "Cacna2d2", "ortholog_c_elegans": "unc-36", "ortholog_xenopus": "cacna2d2", "ortholog_zebrafish": "cacna2d2a, cacna2d2b", "ortholog_drosophila": "Ca-Ma2d, stj, stol", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.9399, "sd_percent_ciliated": 0.4168, "z_score": 0.3551 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.77, "sd_percent_ciliated": 1.77, "z_score": 1.77 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.1215, "sd_percent_ciliated": 1.1215, "z_score": 1.1215 } ] }, { "gene": "CACNA2D3", "ensembl_id": "ENSG00000157445", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel auxiliary subunit alpha2delta 3 [Source:HGNC Symbol,Acc:HGNC:15460]", "omim_id": "606399", "functional_summary": "CAC 2D3 has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF13768", "PF08473", "PF08399"], "domain_descriptions": ["von Willebrand factor", "type A", "VWA N-terminal", "Voltage-dependent calcium channel", "alpha-2/delta subunit", "conserved region", "von Willebrand factor A-like domain superfamily", "Voltage-dependent calcium channel subunit alpha-2/delta"], "string_link": "https://string-db.org/network/9606/ENSG00000157445", "synonym": "ALPHA2DELTA-3, HSA272268", "ortholog_mouse": "Cacna2d3", "ortholog_c_elegans": "unc-36", "ortholog_xenopus": "cacna2d3", "ortholog_zebrafish": "cacna2d3, cacna2d3a", "ortholog_drosophila": "stj, stol", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.3539, "sd_percent_ciliated": 2.2396, "z_score": -0.4429, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.931, "sd_percent_ciliated": 0.931, "z_score": 0.931, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.338, "sd_percent_ciliated": -1.338, "z_score": -1.338, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CACNA2D4", "ensembl_id": "ENSG00000151062", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol,Acc:HGNC:20202]", "omim_id": "608171", "functional_summary": "CAC 2D4 has localized in flagella.", "localization": "flagella, Lysosomes", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000151062", "synonym": "ALPHA2DELTA-4", "ortholog_mouse": "Cacna2d4", "ortholog_c_elegans": "unc-36", "ortholog_xenopus": "cacna2d4", "ortholog_zebrafish": "cacna2d4a, cacna2d4b", "ortholog_drosophila": "Ca-Ma2d", "screens": {} }, { "gene": "CACNB4", "ensembl_id": "ENSG00000182389", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium voltage-gated channel auxiliary subunit beta 4 [Source:HGNC Symbol,Acc:HGNC:1404]", "omim_id": "601949", "functional_summary": "Mutations in the CACNB4 gene cause Juvenile Myoclonic Epilepsy (PMID: 10762541).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "10762541 ,10762541", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000182389", "synonym": "EJM4", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cacnb4", "ortholog_c_elegans": "ccb-1, ccb-2", "ortholog_xenopus": "cacnb4", "ortholog_zebrafish": "cacnb4a, cacnb4b", "ortholog_drosophila": "Ca-β", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.1575, "sd_percent_ciliated": 1.6119, "z_score": 1.1084 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.29, "sd_percent_ciliated": 1.29, "z_score": 1.29 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4022, "sd_percent_ciliated": 1.4022, "z_score": 1.4022 } ] }, { "gene": "CALCA", "ensembl_id": "ENSG00000110680", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcitonin related polypeptide alpha [Source:HGNC Symbol,Acc:HGNC:1437]", "omim_id": "114130", "functional_summary": "The vertebrate/human-type vasoactive molecule adrenomedullin (ADM) and its close relative compounds (PAMP and CGRP) have ligand-specific, diverse effects on the migratory behaviour of the eukaryotic ciliate Tetrahyme piriformis ( 26481478).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.6481478E7", "complex_components": ["CALCA", "CALCR", "GNAS", "GNB1", "GNG2", "CALCRL", "RAMP1"], "pfam_ids": "PF00214", "domain_descriptions": ["Calcitonin peptide-like", "Calcitonin gene-related peptide", "Calcitonin", "conserved site", "Calcitonin/adrenomedullin", "Calcitonin-like", "Calcitonin"], "string_link": "https://string-db.org/network/9606/ENSG00000110680", "synonym": "CALC1, CGRP, CGRP-ALPHA", "ortholog_mouse": "Calca", "ortholog_xenopus": "calca", "ortholog_zebrafish": "calca", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.23, "sd_percent_ciliated": 1.23, "z_score": 1.23, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5005, "sd_percent_ciliated": -5.5005, "z_score": -5.5005, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMK1D", "ensembl_id": "ENSG00000183049", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase ID [Source:HGNC Symbol,Acc:HGNC:19341]", "omim_id": "607957", "functional_summary": "CAMK1D has localized in basal body, transition zone.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000183049", "synonym": "CKLIK", "ortholog_mouse": "Camk1d", "ortholog_c_elegans": "cmk-1", "ortholog_zebrafish": "camk1da, camk1db", "ortholog_drosophila": "CaMKI", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.9824, "sd_percent_ciliated": 4.3763, "z_score": 0.8448, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.905, "sd_percent_ciliated": 0.905, "z_score": 0.905, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6769, "sd_percent_ciliated": -0.6769, "z_score": -0.6769, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMK1G", "ensembl_id": "ENSG00000008118", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase IG [Source:HGNC Symbol,Acc:HGNC:14585]", "omim_id": "614994", "functional_summary": "The calcium/calmodulin-dependent ki se CAMK1G (Fig. 3B), which can act in a calcium/calmodulin dependent sig ling cascade important for axon formation (19657032) localized cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "1.9657032E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000008118", "synonym": "CLICKIII, DJ272L16.1, VWS1", "ortholog_mouse": "Camk1g", "ortholog_c_elegans": "cmk-1", "ortholog_xenopus": "camk1g", "ortholog_zebrafish": "camk1ga, camk1gb", "ortholog_drosophila": "CaMKI", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.398, "sd_percent_ciliated": 0.1767, "z_score": 0.2894, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9777, "sd_percent_ciliated": -4.9777, "z_score": -4.9777, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMK2A", "ensembl_id": "ENSG00000070808", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase II alpha [Source:HGNC Symbol,Acc:HGNC:1460]", "omim_id": "114078", "functional_summary": "CaMK-II is expressed in ciliated tissues of the zebrafish embryo, including the Kupffer's Vesicle (KV)(20630945), kidney(21752935), neuromasts, and inner ear. CaMK-II suppression results in additio l ciliated hair cells and altered levels of Delta鈥揘otch sig ling members(9806913). CaMK-II plays a critical role in the developing ear, influencing cell differentiation through extranuclear effects on Delta鈥揘otch sig ling (23747599).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "20630945 , 21752935 , 9806913 , 23747599", "complex_components": ["ACTN4", "CAMK2A", "LRRC7", "ATP2A2", "CALM1", "KPNA1", "GRIN2B"], "pfam_ids": ["PF08332", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Calcium/calmodulin-dependent protein kinase II", "association-domain", "Protein kinase", "ATP binding site", "NTF2-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000070808", "synonym": "CAMKA, CAMKIIA, CAMKIINALPHA, KIAA0968", "ortholog_mouse": "Camk2a", "ortholog_c_elegans": "unc-43", "ortholog_xenopus": "camk2a", "ortholog_zebrafish": "camk2a", "ortholog_drosophila": "CaMKII", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.801, "sd_percent_ciliated": 0.6678, "z_score": 1.4286 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.278, "sd_percent_ciliated": 0.278, "z_score": 0.278 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5085, "sd_percent_ciliated": -1.5085, "z_score": -1.5085 } ] }, { "gene": "CAMK2B", "ensembl_id": "ENSG00000058404", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase II beta [Source:HGNC Symbol,Acc:HGNC:1461]", "omim_id": "607707", "functional_summary": "CaMK-II is expressed in ciliated tissues of the zebrafish embryo, including the Kupffer's Vesicle (KV)(20630945), kidney(21752935), neuromasts, and inner ear. CaMK-II suppression results in additio l ciliated hair cells and altered levels of Delta鈥揘otch sig ling members(9806913). CaMK-II plays a critical role in the developing ear, influencing cell differentiation through extranuclear effects on Delta鈥揘otch sig ling (23747599).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "20630945 , 21752935 , 9806913 , 23747599", "complex_components": {}, "pfam_ids": ["PF00069", "PF08332"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Calcium/calmodulin-dependent protein kinase II", "association-domain", "Protein kinase", "ATP binding site", "NTF2-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000058404", "synonym": "CAM2, CAMK2, CAMKB, CAMKIIB", "ortholog_mouse": "Camk2b", "ortholog_c_elegans": "unc-43", "ortholog_xenopus": "camk2b", "ortholog_zebrafish": "camk2b1", "ortholog_drosophila": "CaMKII", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.7691, "z_score": 0.4003, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.3385, "z_score": 1.6149, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.806 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.746, "z_score": 0.746, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.746 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0028, "z_score": -3.0028, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.0028 } ] }, { "gene": "CAMK2D", "ensembl_id": "ENSG00000145349", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase II delta [Source:HGNC Symbol,Acc:HGNC:1462]", "omim_id": "607708", "functional_summary": "CAMK2D has localized in transition zone, ciliary tip.", "localization": "transition zone, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CAMK2D", "CREBBP", "HES1", "KAT2B", "NONO", "PARP1", "POLR2A", "SRC"], "pfam_ids": ["PF08332", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Calcium/calmodulin-dependent protein kinase II", "association-domain", "Protein kinase", "ATP binding site", "NTF2-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000145349", "synonym": "CAMKD", "ortholog_mouse": "Camk2d", "ortholog_c_elegans": "unc-43", "ortholog_xenopus": "camk2d", "ortholog_zebrafish": "camk2d1, camk2d2", "ortholog_drosophila": "CaMKII", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.1267, "sd_percent_ciliated": 5.3236, "z_score": 0.1354 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.08, "sd_percent_ciliated": 2.08, "z_score": 2.08 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3771, "sd_percent_ciliated": -2.3771, "z_score": -2.3771 } ] }, { "gene": "CAMK2G", "ensembl_id": "ENSG00000148660", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase II gamma [Source:HGNC Symbol,Acc:HGNC:1463]", "omim_id": "602123", "functional_summary": "CAMK2G has localized in ciliary tip, transition zone.", "localization": "cilia, transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF08332", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Calcium/calmodulin-dependent protein kinase II", "association-domain", "Protein kinase", "ATP binding site", "NTF2-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000148660", "synonym": "CAMKG", "ortholog_mouse": "Camk2g", "ortholog_c_elegans": "unc-43", "ortholog_xenopus": "camk2g", "ortholog_zebrafish": "camk2g1, camk2g2", "ortholog_drosophila": "CaMKII", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.3928, "sd_percent_ciliated": 4.3268, "z_score": -0.6805, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.73, "sd_percent_ciliated": 4.73, "z_score": 4.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0723, "sd_percent_ciliated": 0.0723, "z_score": 0.0723, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMK2N1", "ensembl_id": "ENSG00000162545", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase II inhibitor 1 [Source:HGNC Symbol,Acc:HGNC:24190]", "omim_id": "614986", "functional_summary": "The calcium/calmodulin dependent protein ki se II inhibitor 1 CAMK2N1 (Fig. 6B), which inhibits CAMK2, a key ki se in many neuro l functions (21070840) localized at cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.107084E7", "complex_components": {}, "pfam_ids": "PF15170", "domain_descriptions": "Calcium/calmodulin-dependent protein kinase II inhibitor", "string_link": "https://string-db.org/network/9606/ENSG00000162545", "synonym": "CAMKIINALPHA", "ortholog_mouse": "Camk2n1", "ortholog_xenopus": "camk2n1, camk2n2", "ortholog_zebrafish": "camk2n1a, camk2n1b, camk2n2a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.38, "sd_percent_ciliated": 1.38, "z_score": 1.38, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7655, "sd_percent_ciliated": -1.7655, "z_score": -1.7655, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMK2N2", "ensembl_id": "ENSG00000163888", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcium/calmodulin dependent protein kinase II inhibitor 2 [Source:HGNC Symbol,Acc:HGNC:24197]", "omim_id": "608721", "functional_summary": "CAMK2N2 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15170", "domain_descriptions": "Calcium/calmodulin-dependent protein kinase II inhibitor", "string_link": "https://string-db.org/network/9606/ENSG00000163888", "synonym": "CAM-KIIN", "ortholog_mouse": "Camk2n2", "ortholog_xenopus": "camk2n2", "ortholog_zebrafish": "camk2n2, camk2n2a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0731, "sd_percent_ciliated": 0.0731, "z_score": 0.0731, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0654, "sd_percent_ciliated": -0.0654, "z_score": -0.0654, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMSAP1", "ensembl_id": "ENSG00000130559", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol,Acc:HGNC:19946]", "omim_id": "613774", "functional_summary": "Wdr47 facilitates proper neurite remodeling through Camsaps to fine-tune regio l microtubule dy mics and organization during early stages of neuro l polarization (32320668). Camsap1, Camsap2, and Camsap3 colocalize with Wdr47 in multicilia (34608154).", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "32320668 , 34608154", "complex_components": {}, "pfam_ids": ["PF08683", "PF11971", "PF17095"], "domain_descriptions": ["Calponin homology domain", "PRC-barrel-like superfamily", "CKK domain", "Calmodulin-regulated spectrin-associated protein-like", "Calponin-homology domain", "CAMSAP", "spectrin and Ca2+/calmodulin-binding region", "Calmodulin-regulated spectrin-associated protein", "CH domain superfamily", "CKK domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000130559", "synonym": "DKFZP434F195, FLJ31228", "ortholog_mouse": "Camsap1", "ortholog_c_elegans": "ptrn-1", "ortholog_xenopus": "camsap1", "ortholog_zebrafish": "camsap1a, camsap1b", "ortholog_drosophila": "Patronin", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.1184, "sd_percent_ciliated": 3.1713, "z_score": 0.619 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.72, "sd_percent_ciliated": 6.72, "z_score": 6.72 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4396, "sd_percent_ciliated": -3.4396, "z_score": -3.4396 } ] }, { "gene": "CAMSAP2", "ensembl_id": "ENSG00000118200", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol,Acc:HGNC:29188]", "omim_id": "613775", "functional_summary": "Wdr47 facilitates proper neurite remodeling through Camsaps to fine-tune regio l microtubule dy mics and organization during early stages of neuro l polarization (32320668). Camsap1, Camsap2, and Camsap3 colocalize with Wdr47 in multicilia (34608154).", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "32320668 , 34608154", "complex_components": ["AKAP9", "CAMSAP2", "PDE4DIP"], "pfam_ids": ["PF11971", "PF08683", "PF17095"], "domain_descriptions": ["Calponin homology domain", "PRC-barrel-like superfamily", "CKK domain", "Calmodulin-regulated spectrin-associated protein-like", "Calponin-homology domain", "CAMSAP", "spectrin and Ca2+/calmodulin-binding region", "Calmodulin-regulated spectrin-associated protein", "CH domain superfamily", "CKK domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000118200", "synonym": "CAMSAP1L1, KIAA1078", "ortholog_mouse": "Camsap2", "ortholog_c_elegans": "ptrn-1", "ortholog_xenopus": "camsap2", "ortholog_zebrafish": "camsap2a, camsap2b", "ortholog_drosophila": "Patronin", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.338, "sd_percent_ciliated": 0.338, "z_score": 0.338, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6348, "sd_percent_ciliated": -4.6348, "z_score": -4.6348, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMSAP3", "ensembl_id": "ENSG00000076826", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calmodulin regulated spectrin associated protein family member 3 [Source:HGNC Symbol,Acc:HGNC:29307]", "omim_id": "612685", "functional_summary": "Wdr47 facilitates proper neurite remodeling through Camsaps to fine-tune regio l microtubule dy mics and organization during early stages of neuro l polarization (32320668). Camsap1, Camsap2, and Camsap3 colocalize with Wdr47 in multicilia (34608154).", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "32320668 , 34608154", "complex_components": ["CAMSAP3", "MACF1"], "pfam_ids": ["PF08683", "PF17095", "PF11971"], "domain_descriptions": ["Calponin homology domain", "PRC-barrel-like superfamily", "CKK domain", "Calmodulin-regulated spectrin-associated protein-like", "Calponin-homology domain", "CAMSAP", "spectrin and Ca2+/calmodulin-binding region", "Calmodulin-regulated spectrin-associated protein", "CH domain superfamily", "CKK domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000076826", "synonym": "KIAA1543, NEZHA, PPP1R80", "ortholog_mouse": "Camsap3", "ortholog_c_elegans": "ptrn-1", "ortholog_xenopus": "camsap3", "ortholog_zebrafish": "camsap3", "ortholog_drosophila": "Patronin", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.259, "sd_percent_ciliated": 0.259, "z_score": 0.259, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5913, "sd_percent_ciliated": -5.5913, "z_score": -5.5913, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAMTA1", "ensembl_id": "ENSG00000171735", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calmodulin binding transcription activator 1 [Source:HGNC Symbol,Acc:HGNC:18806]", "omim_id": "611501", "functional_summary": "CAMTA1 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF12796", "PF01833", "PF03859", "PF00612"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Ankyrin repeat", "IPT domain", "CG-1 DNA-binding domain", "Immunoglobulin-like fold", "Immunoglobulin E-set", "P-loop containing nucleoside triphosphate hydrolase", "Ankyrin repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000171735", "synonym": "KIAA0833", "ortholog_mouse": "Camta1", "ortholog_c_elegans": "camt-1", "ortholog_xenopus": "camta1", "ortholog_zebrafish": "camta1a, camta1b", "ortholog_drosophila": "Camta", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.1636, "sd_percent_ciliated": 1.2785, "z_score": 0.7456, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.91, "sd_percent_ciliated": 5.91, "z_score": 5.91, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1236, "sd_percent_ciliated": -0.1236, "z_score": -0.1236, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CANX", "ensembl_id": "ENSG00000127022", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calnexin [Source:HGNC Symbol,Acc:HGNC:1473]", "omim_id": "114217", "functional_summary": "A Wnt/beta-catenin pathway antagonist chibby binds cenexin at the distal end of mother centrioles and functions in primary cilia formation. Cby interacted with one of the appendage components, Cenexin (Cnx), which thereby abrogated the inhibitory effect of Cby on 尾-catenin-mediated transcriptio l activation in a dose-dependent manner. Cby plays an important role in organization of both primary and motile cilia in collaboration with Cnx(22911743).", "localization": "cilia, Endoplasmic", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.2911743E7", "complex_components": ["CANX", "DDOST", "DERL1", "DERL2", "RPN1", "RPN2", "SELENOK", "SELENOS", "STT3A", "VCP"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000127022", "synonym": "CNX, IP90, P90", "ortholog_mouse": "Canx", "ortholog_c_elegans": "cnx-1", "ortholog_xenopus": "canx", "ortholog_zebrafish": "canx", "ortholog_drosophila": "CG1924, Cnx14D", "screens": {} }, { "gene": "CAPN11", "ensembl_id": "ENSG00000137225", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calpain 11 [Source:HGNC Symbol,Acc:HGNC:1478]", "omim_id": "604822", "functional_summary": "CAPN11 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00648", "PF13833", "PF01067"], "domain_descriptions": ["Cysteine peptidase", "cysteine active site", "Peptidase C2", "calpain", "catalytic domain", "Peptidase C2", "calpain family", "Papain-like cysteine peptidase superfamily", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Peptidase C2", "calpain", "large subunit", "domain III", "Peptidase C2", "calpain", "domain III", "Calpain subdomain III", "Calpain large subunit", "domain III superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137225", "ortholog_mouse": "Capn11", "ortholog_c_elegans": "clp-1, clp-3, clp-4, clp-6, clp-7", "ortholog_xenopus": "capn11", "ortholog_zebrafish": "capn1a, capn1b", "ortholog_drosophila": "CalpA, CalpB", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.5671, "sd_percent_ciliated": 9.2996, "z_score": 0.7945, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0033, "sd_percent_ciliated": 0.0033, "z_score": 0.0033, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAPN2", "ensembl_id": "ENSG00000162909", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calpain 2 [Source:HGNC Symbol,Acc:HGNC:1479]", "omim_id": "114230", "functional_summary": "CAPN2 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Protein processing & maturation, Cardiac & muscle development", "reference": "https://www.proteinatlas.org/", "complex_components": ["CAPN2", "CAPNS1"], "pfam_ids": ["PF00648", "PF13833", "PF01067"], "domain_descriptions": ["Cysteine peptidase", "cysteine active site", "Peptidase C2", "calpain", "catalytic domain", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Peptidase C2", "calpain", "large subunit", "domain III", "Peptidase C2", "calpain", "domain III", "Peptidase C2", "calpain family", "Calpain subdomain III", "Calpain large subunit", "domain III superfamily", "Papain-like cysteine peptidase superfamily", "CAPN2", "penta-EF hand", "calcium binding motif"], "string_link": "https://string-db.org/network/9606/ENSG00000162909", "synonym": "CANPL2, CANPML, MCANP", "ortholog_mouse": "Capn2", "ortholog_c_elegans": "clp-1, clp-3, clp-4, clp-6, clp-7", "ortholog_xenopus": "capn2", "ortholog_zebrafish": "capn2a, capn2b, capn2l", "ortholog_drosophila": "CalpA, CalpB", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.0507, "sd_percent_ciliated": 3.8013, "z_score": 0.6108, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.291, "sd_percent_ciliated": 0.291, "z_score": 0.291, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8311, "sd_percent_ciliated": -2.8311, "z_score": -2.8311, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CAPS2", "ensembl_id": "ENSG00000180881", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcyphosine 2 [Source:HGNC Symbol,Acc:HGNC:16471]", "omim_id": "607724", "functional_summary": "Endogenous CAPS2 accumulates prominently at the ciliary base in RPE1 cells and , firmly embedded in the centrosome compartment. CAPS2 was enriched at the basal bodies of motile cilia and CAPS2 is likely to also localize along the length of human fallopian tube cilia, indicating that CAPS2 is universally localized to centrosomes or cilia in the human body(38538594).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8538594E7", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "Calcium-Binding Signaling"], "string_link": "https://string-db.org/network/9606/ENSG00000180881", "ortholog_mouse": "Caps2", "ortholog_xenopus": "caps2", "ortholog_zebrafish": "caps2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.5608, "sd_percent_ciliated": 1.2691, "z_score": -0.4178 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.03, "sd_percent_ciliated": 3.03, "z_score": 3.03 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.2851, "sd_percent_ciliated": -2.2851, "z_score": -2.2851 } ] }, { "gene": "CAPSL", "ensembl_id": "ENSG00000152611", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "calcyphosine like [Source:HGNC Symbol,Acc:HGNC:28375]", "omim_id": "618799", "functional_summary": "CAPSL has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF13499", "PF13405"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Calcium-Binding Signaling"], "string_link": "https://string-db.org/network/9606/ENSG00000152611", "synonym": "MGC26610", "ortholog_mouse": "Capsl", "ortholog_xenopus": "caps, capsl", "ortholog_zebrafish": "capsla, capslb", "ortholog_drosophila": "CG10126, CG31345", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.8061, "sd_percent_ciliated": 6.8964, "z_score": -0.3881 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.191, "sd_percent_ciliated": -2.191, "z_score": -2.191 } ] }, { "gene": "CASP2", "ensembl_id": "ENSG00000106144", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "caspase 2 [Source:HGNC Symbol,Acc:HGNC:1503]", "omim_id": "600639", "functional_summary": "CASP2 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CASP2", "CRADD", "PIDD1", "SPTAN1"], "pfam_ids": ["PF00619", "PF00656"], "domain_descriptions": ["CARD domain", "Death-like domain superfamily", "Death domain-containing protein CRADD", "Peptidase C14", "p20 domain", "Peptidase C14", "caspase non-catalytic subunit p10", "Peptidase C14 family", "Peptidase C14", "caspase domain", "Peptidase C14A", "caspase catalytic domain", "Peptidase family C14A", "His active site", "Caspase-like domain superfamily", "Peptidase family C14A", "cysteine active site", "Caspase-2", "CARD domain"], "string_link": "https://string-db.org/network/9606/ENSG00000106144", "synonym": "ICH1, MGC2181, NEDD2, PPP1R57", "ortholog_mouse": "Casp2", "ortholog_c_elegans": "ced-3", "ortholog_xenopus": "casp2", "ortholog_zebrafish": "casp2", "ortholog_drosophila": "Dronc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.8859, "sd_percent_ciliated": 1.5131, "z_score": -0.4996 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.58, "sd_percent_ciliated": 2.58, "z_score": 2.58 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.2414, "sd_percent_ciliated": -6.2414, "z_score": -6.2414 } ] }, { "gene": "CASP8", "ensembl_id": "ENSG00000064012", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "caspase 8 [Source:HGNC Symbol,Acc:HGNC:1509]", "omim_id": "601763", "functional_summary": "CASP8 has localized in flagella.", "localization": "flagella, Autophagosomes, Cytosol, Endosome, Microtubules, Nucleus, Mitochondria", "functional_category": "Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["BCL2", "BFAR", "CASP8", "BCL10", "FADD", "MALT1", "CHUK", "IKBKB", "BCL2L1", "CFLAR", "FAS", "CD95", "CASP10", "LRRK2", "CASP1", "NLRC4", "NLRP3", "PYCARD", "AIM2", "CARD9", "RIPK1", "MEFV", "RIPK3", "ZBP1", "BIRC2", "TRADD", "TRAF2", "PSMC5", "TICAM1", "TLR3", "AR"], "pfam_ids": ["PF00656", "PF01335"], "domain_descriptions": ["Peptidase C14", "p20 domain", "Death effector domain", "Peptidase C14", "caspase non-catalytic subunit p10", "Death-like domain superfamily", "Peptidase C14", "caspase domain", "Peptidase C14A", "caspase catalytic domain", "Peptidase family C14A", "His active site", "Caspase-like domain superfamily", "Peptidase family C14A", "cysteine active site", "Caspase-8", "death effector domain 1"], "string_link": "https://string-db.org/network/9606/ENSG00000064012", "synonym": "CASP-8, FLICE, MACH, MCH5", "ortholog_mouse": "Casp8", "ortholog_c_elegans": "ced-3, csp-3", "ortholog_xenopus": "casp8", "ortholog_zebrafish": "casp8", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5624, "sd_percent_ciliated": 2.0677, "z_score": 0.3093 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0354, "sd_percent_ciliated": 0.0354, "z_score": 0.0354 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.1591, "sd_percent_ciliated": -8.1591, "z_score": -8.1591 } ] }, { "gene": "CATIP", "ensembl_id": "ENSG00000158428", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ciliogenesis associated TTC17 interacting protein [Source:HGNC Symbol,Acc:HGNC:25062]", "omim_id": "619387", "functional_summary": "It is involved in primary ciliogenesis in human cells and modulates actin polymerization, its depletion reduces the number of primary cilia without changing their length, suggesting it would be involved in cilia initiation rather than in cilia elongation. C2orf62 in association with TTC17 probably act on both motile and primary cilia formation (PMID, 24475127)", "localization": "flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.4475127E7", "complex_components": {}, "pfam_ids": "PF21772", "domain_descriptions": ["Ciliogenesis-associated TTC17-interacting protein", "dimerization/docking domain", "Ciliogenesis-associated TTC17-interacting protein", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000158428", "synonym": "C2ORF62, MGC50811", "ortholog_mouse": "Catip", "ortholog_xenopus": "catip", "ortholog_zebrafish": "catip", "ortholog_drosophila": "CG13243", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0964, "sd_percent_ciliated": 0.0964, "z_score": 0.0964, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CATSPER1", "ensembl_id": "ENSG00000175294", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated 1 [Source:HGNC Symbol,Acc:HGNC:17116]", "omim_id": "606389", "functional_summary": "CatSper is thus vital to cAMP-mediated Ca2+ influx in sperm, sperm motility and fertilization (11595941).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1595941E7", "complex_components": ["CACNA1I", "CATSPER1"], "pfam_ids": "PF00520", "domain_descriptions": ["Ion transport domain", "Voltage-dependent channel domain superfamily", "Cation channel sperm-associated protein 1"], "string_link": "https://string-db.org/network/9606/ENSG00000175294", "synonym": "CATSPER", "ortholog_mouse": "Catsper1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.9985, "sd_percent_ciliated": 2.0536, "z_score": -0.6071, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.22, "sd_percent_ciliated": 1.22, "z_score": 1.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0254, "sd_percent_ciliated": -4.0254, "z_score": -4.0254, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CATSPER2", "ensembl_id": "ENSG00000166762", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated 2 [Source:HGNC Symbol,Acc:HGNC:18810]", "omim_id": "607249", "functional_summary": "CatSper is thus vital to cAMP-mediated Ca2+ influx in sperm, sperm motility and fertilization (11595941).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1595941E7", "complex_components": ["CACNA1I", "CATSPER2"], "pfam_ids": "PF00520", "domain_descriptions": ["Ion transport domain", "Voltage-dependent channel domain superfamily", "Cation channel sperm-associated protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000166762", "ortholog_mouse": "Catsper2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.2187, "sd_percent_ciliated": 3.1333, "z_score": 0.1465, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.228, "sd_percent_ciliated": 0.228, "z_score": 0.228, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6219, "sd_percent_ciliated": -3.6219, "z_score": -3.6219, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CATSPER3", "ensembl_id": "ENSG00000152705", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated 3 [Source:HGNC Symbol,Acc:HGNC:20819]", "omim_id": "609120", "functional_summary": "CatSper3 and CatSper4 Are Specifically Expressed in Testis and Sperm (17227845)", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.7227845E7", "complex_components": {}, "pfam_ids": "PF00520", "domain_descriptions": ["Ion transport domain", "Voltage-dependent channel domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000152705", "synonym": "CACRC", "ortholog_mouse": "Catsper3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.8588, "sd_percent_ciliated": 5.96, "z_score": -0.624, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.5865, "sd_percent_ciliated": -4.5865, "z_score": -4.5865, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CATSPER4", "ensembl_id": "ENSG00000188782", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated 4 [Source:HGNC Symbol,Acc:HGNC:23220]", "omim_id": "609121", "functional_summary": "CatSper3 and CatSper4 Are Specifically Expressed in Testis and Sperm (17227845)", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.7227845E7", "complex_components": {}, "pfam_ids": "PF00520", "domain_descriptions": ["Ion transport domain", "Voltage-dependent channel domain superfamily", "Cation channel sperm-associated protein 4"], "string_link": "https://string-db.org/network/9606/ENSG00000188782", "ortholog_mouse": "Catsper4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 49.052, "sd_percent_ciliated": 1.791, "z_score": 1.3379, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.049, "sd_percent_ciliated": -5.049, "z_score": -5.049, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CATSPERB", "ensembl_id": "ENSG00000133962", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated auxiliary subunit beta [Source:HGNC Symbol,Acc:HGNC:20500]", "omim_id": "611169", "functional_summary": "Like the CatSper ion channel subunits, CatSperβ was restricted to testis and localized to the principal piece of the sperm tail.", "localization": "flagella", "functional_category": "Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.747842E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000133962", "synonym": "C14ORF161, FLJ14298", "ortholog_mouse": "Catsperb", "screens": {} }, { "gene": "CATSPERD", "ensembl_id": "ENSG00000174898", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated auxiliary subunit delta [Source:HGNC Symbol,Acc:HGNC:28598]", "omim_id": "617490", "functional_summary": "CATSPERδ is an essential element of the CATSPER channel complex and propose that CATSPERδ is required for proper CATSPER channel assembly and/or transport (21224844).", "localization": "flagella, Lysosomes", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1224844E7", "complex_components": {}, "pfam_ids": ["PF22850", "PF15020", "PF23747"], "domain_descriptions": ["Cation channel sperm-associated auxiliary subunit delta/epsilon", "CATSPERD", "beta-propeller domain", "CATSPERD/E", "C-terminal domain", "CATSPERD", "Ig-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000174898", "synonym": "MGC39581, TMEM146", "ortholog_mouse": "Catsperd", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CATSPERE", "ensembl_id": "ENSG00000179397", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "catsper channel auxiliary subunit epsilon [Source:HGNC Symbol,Acc:HGNC:28491]", "omim_id": "617510", "functional_summary": "In both human and mouse sperm cells, CatSper ε and ζ proteins are localized to the principal piece of the tails (28226241).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8226241E7", "complex_components": {}, "pfam_ids": ["PF22850", "PF22844", "PF22849", "PF22843", "PF22841"], "domain_descriptions": ["Cation channel sperm-associated auxiliary subunit delta/epsilon", "CATSPERD/E", "C-terminal domain", "CATSPERE", "Ig-like domain", "CATSPERE", "beta-propeller domain", "CATSPERE", "second N-terminal domain", "CATSPERE", "first N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000179397", "synonym": "C1ORF101, MGC33370", "ortholog_mouse": "Catspere1, Catspere2", "screens": {} }, { "gene": "CATSPERG", "ensembl_id": "ENSG00000099338", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cation channel sperm associated auxiliary subunit gamma [Source:HGNC Symbol,Acc:HGNC:25243]", "omim_id": "613452", "functional_summary": "CATSPER protein complex contains pore-forming proteins and two additio l proteins (CATSPERB and CATSPERG) and that the trafficking and/or assembly of these proteins depends on CATSPER1 (19516020).", "localization": "flagella, Lysosomes", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.951602E7", "complex_components": {}, "pfam_ids": ["PF22846", "PF22840", "PF15064", "PF22851"], "domain_descriptions": ["Cation channel sperm-associated auxiliary subunit gamma", "CATSPERG", "beta-propeller domain", "CATSPERG", "N-terminal domain", "CATSPERG", "C-terminal domain", "CATSPERG", "Ig-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000099338", "synonym": "C19ORF15, DKFZP434A1022, FLJ46353", "ortholog_mouse": "Catsperg1, Catsperg2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CATSPERZ", "ensembl_id": "ENSG00000219435", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "catsper channel auxiliary subunit zeta [Source:HGNC Symbol,Acc:HGNC:19231]", "omim_id": "617511", "functional_summary": "In both human and mouse sperm cells, CatSper ε and ζ proteins are localized to the principal piece of the tails (28226241).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8226241E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000219435", "synonym": "C11ORF20, DKFZP566E164, TEX40", "ortholog_mouse": "Catsperz", "screens": {} }, { "gene": "CAV1", "ensembl_id": "ENSG00000105974", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "caveolin 1 [Source:HGNC Symbol,Acc:HGNC:1527]", "omim_id": "601047", "functional_summary": "CAV1 regulates primary cilium length by modulating apical actin cytoskeleton, its silencing results in an increased size of cilia. isoform is necessary for normal ciliary length, through mechanisms involving GTPase RhoA, ROCK and DIA1 (PMID 30718762). CAV1 membrane microdomains establishment by KIF13B and NPHP4, is essential for Sonic hedgehog induced ciliary accumulation of Smoothened (SMO) (PMID 28134340)", "localization": "transition zone, Endosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transition zone, Transcription regulation", "reference": "30718762, 28134340 ,30718762", "complex_components": ["CAV1", "NOS3", "NOSTRIN", "GNA11", "ITPR3", "TRPC1", "DAG1", "SGCE", "UTRN", "ESR1", "VDAC1", "OCLN", "PDCD6IP", "DPP4", "GLP1R", "CAVIN1", "GRK2", "AR", "FLT4", "P2RY2"], "pfam_ids": "PF01146", "domain_descriptions": ["Caveolin", "Caveolin", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000105974", "synonym": "CAV", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cav1", "ortholog_c_elegans": "cav-1, cav-2", "ortholog_xenopus": "cav1", "ortholog_zebrafish": "cav1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.9445, "sd_percent_ciliated": 0.2289, "z_score": -0.3713 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.54, "sd_percent_ciliated": 2.54, "z_score": 2.54 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -12.1519, "sd_percent_ciliated": -12.1519, "z_score": -12.1519 } ] }, { "gene": "CAVIN1", "ensembl_id": "ENSG00000177469", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "caveolae associated protein 1 [Source:HGNC Symbol,Acc:HGNC:9688]", "omim_id": "603198", "functional_summary": "CAVIN1 together with the ciliary membrane marker ARL13B, were detected in the proximal ciliary region suggestive of TZ and CiPo localization (36776558).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane, Transition zone, Transcription regulation", "reference": "3.6776558E7", "complex_components": ["CAV1", "CAVIN1"], "pfam_ids": "PF15237", "domain_descriptions": "Cavin family", "string_link": "https://string-db.org/network/9606/ENSG00000177469", "synonym": "CAVIN-1, CGL4, PTRF", "ortholog_mouse": "Cavin1", "ortholog_xenopus": "cavin1", "ortholog_zebrafish": "cavin1a, cavin1b", "screens": {} }, { "gene": "CBL", "ensembl_id": "ENSG00000110395", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Cbl proto-oncogene [Source:HGNC Symbol,Acc:HGNC:1541]", "omim_id": "165360", "functional_summary": "Cbl localized at the base and the proximal part of the primary cilium as well as in the Golgi complex in unstimulated NIH3T3 cells (29237719).", "localization": "cilia, transition zone, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "2.9237719E7", "complex_components": ["CBL", "EGFR", "SH3GL2", "SH3KBP1", "MET", "SH3GL3", "BCAR1", "CRK", "GRB2", "PIK3R1", "SOS1", "LAT", "LCP2", "PLCG1", "VAV1", "SHC1", "FGFR2", "FYN", "LYN", "PTK2B", "SORBS2", "OSTF1", "SRC", "FLOT1", "SORBS1", "VAV2", "ANGPT1", "TEK", "SYK", "ABL1", "BCR"], "pfam_ids": ["PF02762", "PF00097", "PF02761", "PF02262", "PF00627"], "domain_descriptions": ["Zinc finger", "RING-type", "Adaptor protein Cbl", "N-terminal helical", "EF-hand domain pair", "Zinc finger", "RING/FYVE/PHD-type", "Adaptor protein Cbl", "EF hand-like", "Adaptor protein Cbl", "SH2-like domain", "Zinc finger", "RING-type", "conserved site", "Zinc finger", "C3HC4 RING-type", "Adaptor protein Cbl", "PTB domain", "Adaptor protein Cbl", "Adaptor protein Cbl", "N-terminal domain superfamily", "SH2 domain superfamily", "UBA-like superfamily", "Ubiquitin-associated domain"], "string_link": "https://string-db.org/network/9606/ENSG00000110395", "synonym": "C-CBL, CBL2, RNF55", "ortholog_mouse": "Cbl", "ortholog_c_elegans": "sli-1", "ortholog_xenopus": "cbl", "ortholog_zebrafish": "cbl", "ortholog_drosophila": "Cbl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.7642, "sd_percent_ciliated": 0.0506, "z_score": -0.1508 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.9011, "sd_percent_ciliated": -3.9011, "z_score": -3.9011 } ] }, { "gene": "CBLN1", "ensembl_id": "ENSG00000102924", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cerebellin 1 precursor [Source:HGNC Symbol,Acc:HGNC:1543]", "omim_id": "600432", "functional_summary": "CBLN1 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00386", "domain_descriptions": ["C1q domain", "Tumour necrosis factor-like domain superfamily", "Cerebellin Synaptic Organizer"], "string_link": "https://string-db.org/network/9606/ENSG00000102924", "ortholog_mouse": "Cbln1", "ortholog_xenopus": "cbln1", "ortholog_zebrafish": "cbln1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.811, "sd_percent_ciliated": 21.6091, "z_score": 0.7029 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.15, "sd_percent_ciliated": 0.15, "z_score": 0.15 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.5677, "sd_percent_ciliated": 2.5677, "z_score": 2.5677 } ] }, { "gene": "CBLN2", "ensembl_id": "ENSG00000141668", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cerebellin 2 precursor [Source:HGNC Symbol,Acc:HGNC:1544]", "functional_summary": "CBLN2 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00386", "domain_descriptions": ["C1q domain", "Tumour necrosis factor-like domain superfamily", "Cerebellin Synaptic Organizer"], "string_link": "https://string-db.org/network/9606/ENSG00000141668", "ortholog_mouse": "Cbln2", "ortholog_xenopus": "cbln2", "ortholog_zebrafish": "cbln2a, cbln2b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.9034, "sd_percent_ciliated": 7.7758, "z_score": -0.0128 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.354, "sd_percent_ciliated": 0.354, "z_score": 0.354 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.34, "sd_percent_ciliated": -0.34, "z_score": -0.34 } ] }, { "gene": "CBLN4", "ensembl_id": "ENSG00000054803", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cerebellin 4 precursor [Source:HGNC Symbol,Acc:HGNC:16231]", "omim_id": "615029", "functional_summary": "CBLN4 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00386", "domain_descriptions": ["C1q domain", "Tumour necrosis factor-like domain superfamily", "Cerebellin Synaptic Organizer"], "string_link": "https://string-db.org/network/9606/ENSG00000054803", "synonym": "CBLNL1, DJ885A10.1", "ortholog_mouse": "Cbln4", "ortholog_xenopus": "cbln4", "ortholog_zebrafish": "cbln4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0064, "sd_percent_ciliated": 0.0064, "z_score": 0.0064, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2934, "sd_percent_ciliated": 0.2934, "z_score": 0.2934, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CBY1", "ensembl_id": "ENSG00000100211", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "chibby 1, beta catenin antagonist [Source:HGNC Symbol,Acc:HGNC:1307]", "omim_id": "607757", "functional_summary": "Inhibits beta-catenin-mediated transcriptio l activation by competing with Tcf/Lef. Cby1 is required for recruitment of Arl13b to the primary cilium. Promotes Ahi1 localisation to the centriole and is probably important for assembly and function of transition zone components (25103236). Cby1 may associate with membranes to promote the recruitment of FAM92 proteins for their higher-order assembly and subsequent membrane remodelling to promote ciliogenesis (27528616). Because of its proximity to the membrane vesicle, it is possible that Cby proteins may be involved in targeting and/or attachmentof the vesicles to the centriole, controlling intraflagellar transport and protein sorting of the ciliary membrane (22911743). \"Cby1 localizes to the base of primary cilia (Fig. 5), and both number and length of primary cilia are significantly reduced in the pancreas of Cby1-KO mice\" \"there was a 41% decrease in the number of primary cilia in Cby1-KO islets compared to WT islets\" https://doi.org/10.1038/s41598-021-96597-w", "localization": "basal body , transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Ciliary membrane, Cardiac & muscle development, Transition zone", "reference": "25103236, 27528616, 22911743., 33131181, https://doi.org/10.1038/s41598-021-96597-w ,33131181", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": "PF14645", "domain_descriptions": "Chibby family", "string_link": "https://string-db.org/network/9606/ENSG00000100211", "synonym": "C22ORF2, CBY, CHIBBY, CHIBBY1, PGEA1, PIGEA-14, PIGEA14", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cby1", "ortholog_xenopus": "cby1", "ortholog_zebrafish": "cby1", "ortholog_drosophila": "Cby", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 55.9, "sd_percent_ciliated": 55.9, "z_score": 55.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.2765, "sd_percent_ciliated": 1.2765, "z_score": 1.2765, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CBY2", "ensembl_id": "ENSG00000174015", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chibby family member 2 [Source:HGNC Symbol,Acc:HGNC:30720]", "omim_id": "618614", "functional_summary": "CBY2 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14645", "domain_descriptions": "Chibby family", "string_link": "https://string-db.org/network/9606/ENSG00000174015", "synonym": "NURIT, SPERT", "ortholog_mouse": "Cby2", "screens": {} }, { "gene": "CC2D1A", "ensembl_id": "ENSG00000132024", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "coiled-coil and C2 domain containing 1A [Source:HGNC Symbol,Acc:HGNC:30237]", "omim_id": "610055", "functional_summary": "CC2D1A has localized in cilia. \"Western blot analysis of fibroblast cell line lysates shows elimination of detectable CC2D1A expression in the two patient fibroblasts compared with the control fibroblasts and the father’s fibroblasts (Fig 5A). To analyze the cilia in fibroblasts, we immunostained for acetylated tubulin to show cilia and phalloidin to show the cytoskeleton. Under normal conditions, control fibroblasts showed a monocilium with an average length of 3.50 ± 1.15 μm (n = 590). In our index patients, either there were fewer ciliated cells (Fig 5B) or the ciliary length was significantly diminished (Fig 5C–F).\" (DOI: 10.26508/lsa.202402708)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "https://doi.org/10.1101/2024.10.20.619273, 34205586, 33196317, DOI: 10.26508/lsa.202402708 ,34205586; 33196317", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000132024", "synonym": "AKI-1, FLJ20241, FREUD-1, LGD2, MRT3, TAPE", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cc2d1a", "ortholog_c_elegans": "ccct-1", "ortholog_xenopus": "cc2d1a", "ortholog_zebrafish": "cc2d1a", "ortholog_drosophila": "l(2)gd1", "screens": {} }, { "gene": "CC2D2A", "ensembl_id": "ENSG00000048342", "overexpression_effects": "Not Reported", "lof_effects": "No Cilia", "percent_ciliated_cells_effects": "No Cilia", "description": "coiled-coil and C2 domain containing 2A [Source:HGNC Symbol,Acc:HGNC:29253]", "omim_id": "612013", "functional_summary": "It is essential for the assembly of subdistal appendages. Protein is required for cilia formation and predicted to be involved in calcium- dependent membrane targeting. (PMID 24947469). Interacts with CEP290 in the basal body (PMID 24947469, 18950740). CC2D2A associates with NINL to provide a docking point for incoming transport vesicles at the entrance of ciliary compartments (26485645). Required for vesicle fusion (29281629). Play a role in Ca2+ regulated sig lling pathways (18513680) \" Cilia are absent in Cc2d2a−/− embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. \" (https://doi.org/10.1038/ncomms5207)", "localization": "transition zone, basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "24947469, 26485645, 29281629, 34435324, 18513680, 19574260, 22241855, https://doi.org/10.1038/ncomms5207 ,19574260; 22241855; 18513680; 34435324", "complex_components": ["CC2D2A", "CEP290"], "pfam_ids": ["PF17661", "PF15625", "PF24656", "PF24652"], "domain_descriptions": ["Domain of Not Reported function DUF5523", "Tectonic-like complex component protein", "C2 domain", "CC2D2A", "N-terminal", "C2 domain", "C2 domain superfamily", "Centrosomal protein of 76 kDa", "C-terminal", "CEP76/DRC7", "peptidase-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000048342", "synonym": "JBTS9, KIAA1345, MKS6", "ciliopathy": "COACH Syndrome; Joubert Syndrome; Meckel–Gruber Syndrome; Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cc2d2a", "ortholog_c_elegans": "mks-6", "ortholog_xenopus": "cc2d2a", "ortholog_zebrafish": "cc2d2a", "ortholog_drosophila": "Cc2d2a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 40.4, "sd_percent_ciliated": 40.4, "z_score": 40.4, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6227, "sd_percent_ciliated": -2.6227, "z_score": -2.6227, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CC2D2B", "ensembl_id": "ENSG00000188649", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil and C2 domain containing 2B [Source:HGNC Symbol,Acc:HGNC:31666]", "functional_summary": "Cc2d2a localizes to the connecting cilium in photoreceptors and to the transition zone in other ciliated cell types and that cilia are present in these cells in cc2d2a mutants, arguing against a primary function for Cc2d2a in ciliogenesis (21816947).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "2.1816947E7", "complex_components": {}, "pfam_ids": ["PF17661", "PF15625", "PF24652", "PF24656"], "domain_descriptions": ["Domain of Not Reported function DUF5523", "C2 domain", "CC2D2A", "N-terminal", "C2 domain", "C2 domain superfamily", "Tectonic-like complex component protein", "Centrosomal protein of 76 kDa", "C-terminal", "CEP76/DRC7", "peptidase-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000188649", "synonym": "BA248J23.4, BA690P14.3, C10ORF130, C10ORF131", "ortholog_mouse": "Cc2d2b", "ortholog_c_elegans": "mks-6", "ortholog_drosophila": "Cc2d2a", "screens": {} }, { "gene": "CCDC116", "ensembl_id": "ENSG00000161180", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 116 [Source:HGNC Symbol,Acc:HGNC:26688]", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": "PF15774", "domain_descriptions": "Protein of Not Reported function DUF4702", "string_link": "https://string-db.org/network/9606/ENSG00000161180", "synonym": "FLJ36046", "ortholog_mouse": "Ccdc116", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.42, "sd_percent_ciliated": 0.42, "z_score": 0.42, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6835, "sd_percent_ciliated": -1.6835, "z_score": -1.6835, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC13", "ensembl_id": "ENSG00000244607", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 13 [Source:HGNC Symbol,Acc:HGNC:26358]", "functional_summary": "Required for primary cilia formation and promotes the localisation of protein BBS4 to both centriolar satellites. Promotes genome stability and maintaining a stable microtubule array", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.4816561E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000244607", "synonym": "FLJ25467", "ortholog_mouse": "Ccdc13", "ortholog_xenopus": "ccdc13", "ortholog_zebrafish": "ccdc13", "ortholog_drosophila": "CG13032", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.152, "sd_percent_ciliated": 0.152, "z_score": 0.152, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC136", "ensembl_id": "ENSG00000128596", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 136 [Source:HGNC Symbol,Acc:HGNC:22225]", "omim_id": "611902", "functional_summary": "CCDC136 has localized in flagella.", "localization": "flagella, Lysosomes", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000128596", "synonym": "DKFZP434G156, KIAA1793, NAG6", "ortholog_mouse": "Ccdc136", "ortholog_xenopus": "ccdc136", "ortholog_zebrafish": "ccdc136a, ccdc136b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.298, "sd_percent_ciliated": 0.298, "z_score": 0.298, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC138", "ensembl_id": "ENSG00000163006", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 138 [Source:HGNC Symbol,Acc:HGNC:26531]", "functional_summary": "WDR90, CCDC138, and KIAA1328 each localized strongly and specifically to basal bodies, strongly supporting their participation in centrosomal and ciliary biology (28596423)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8596423E7", "complex_components": {}, "pfam_ids": ["PF21035", "PF21037"], "domain_descriptions": ["Coiled-coil domain-containing protein 138", "Coiled-coil domain-containing protein 138", "C-terminal domain", "Coiled-coil-domain-containing protein 138", "coiled-coil"], "string_link": "https://string-db.org/network/9606/ENSG00000163006", "synonym": "FLJ32745", "ortholog_mouse": "Ccdc138", "ortholog_xenopus": "ccdc138", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.154, "sd_percent_ciliated": 0.154, "z_score": 0.154, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC14", "ensembl_id": "ENSG00000175455", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 14 [Source:HGNC Symbol,Acc:HGNC:25766]", "omim_id": "617147", "functional_summary": "CCDC14 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15254", "domain_descriptions": "Coiled-coil domain-containing protein 14", "string_link": "https://string-db.org/network/9606/ENSG00000175455", "synonym": "DKFZP434L1050, FLJ12892", "ortholog_mouse": "Ccdc14", "ortholog_zebrafish": "ccdc14", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0012, "sd_percent_ciliated": 0.0012, "z_score": 0.0012, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7718, "sd_percent_ciliated": -1.7718, "z_score": -1.7718, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC146", "ensembl_id": "ENSG00000135205", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 146 [Source:HGNC Symbol,Acc:HGNC:29296]", "omim_id": "619829", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000135205", "synonym": "KIAA1505, MBO2", "ortholog_mouse": "Ccdc146", "ortholog_xenopus": "ccdc146", "ortholog_zebrafish": "ccdc146", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC148", "ensembl_id": "ENSG00000153237", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 148 [Source:HGNC Symbol,Acc:HGNC:25191]", "functional_summary": "Ccdc148 specifically localized at the proximal region of Centrin-decorated CPF and was complementary to the Cep131-enriched distal region(39165107).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "3.9165107E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000153237", "synonym": "MGC125588", "ortholog_mouse": "Ccdc148", "ortholog_xenopus": "ccdc148", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.986, "sd_percent_ciliated": 0.986, "z_score": 0.986, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC149", "ensembl_id": "ENSG00000181982", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 149 [Source:HGNC Symbol,Acc:HGNC:25405]", "functional_summary": "CCDC-149 are observed at the amphid/phasmid basal bodies in Caenorhabditis elegans", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "26455799 , 27930654", "complex_components": {}, "pfam_ids": "PF09789", "domain_descriptions": "Coiled-coil domain-containing protein 149-A", "string_link": "https://string-db.org/network/9606/ENSG00000181982", "synonym": "DKFZP761B107", "ortholog_mouse": "Ccdc149", "ortholog_c_elegans": "ccdc-149", "ortholog_xenopus": "ccdc149", "ortholog_zebrafish": "ccdc149a, ccdc149b", "ortholog_drosophila": "CG14868", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.696, "sd_percent_ciliated": 0.696, "z_score": 0.696, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC15", "ensembl_id": "ENSG00000149548", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "coiled-coil domain containing 15 [Source:HGNC Symbol,Acc:HGNC:25798]", "functional_summary": "CCDC15 depletion affects centriole length and integrity, leading to defective cilium formation, mainte nce, and response to Hedgehog sig ling(37934472). While control cells ciliated at 70.1% ± 6.4, CCDC15-depleted cells ciliated at 45.6% ± 0.8 . As quantified from immunofluorescence images and assessed by U-ExM, the cilia that formed in CCDC15-depleted cells were significantly shorter in length (37934472).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7934472E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000149548", "synonym": "FLJ13215", "ortholog_mouse": "Ccdc15", "ortholog_xenopus": "ccdc15", "ortholog_zebrafish": "ccdc15", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.182, "sd_percent_ciliated": 0.182, "z_score": 0.182, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5918, "sd_percent_ciliated": 1.5918, "z_score": 1.5918, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC162P", "ensembl_id": "ENSG00000203799", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 162, pseudogene [Source:HGNC Symbol,Acc:HGNC:21565]", "functional_summary": "CCDC162P(C6ORF183 ) ,Foxj1-induced genes, localized along the extracellular shafts of the motile cilia (25139857).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000203799", "synonym": "BA425D10.3, BA425D10.7, BA487F23.3, C6ORF183, C6ORF184, C6ORF185, CCDC162", "ortholog_mouse": "Ccdc162", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.22, "sd_percent_ciliated": 1.22, "z_score": 1.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC170", "ensembl_id": "ENSG00000120262", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 170 [Source:HGNC Symbol,Acc:HGNC:21177]", "functional_summary": "Gene sets (GS) associated with ependymal development, ciliary function and the immune system were specially modified qPCR confirmed reduced expression in the KO mice genes and these genes associated with ciliary assembly (Cfap43, Cfap69 and Ccdc170)( 38956598).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "3.8956598E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000120262", "synonym": "BA282P11.1, C6ORF97, FLJ23305", "ortholog_mouse": "Ccdc170", "ortholog_c_elegans": "C27D6.1", "ortholog_xenopus": "ccdc170", "ortholog_zebrafish": "ccdc170", "ortholog_drosophila": "CG43338", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.248, "sd_percent_ciliated": 0.248, "z_score": 0.248, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC172", "ensembl_id": "ENSG00000182645", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 172 [Source:HGNC Symbol,Acc:HGNC:30524]", "functional_summary": "By yeast two-hybrid screening, flagellar proteins that could interact with TEKT2 , which resulted in the isolation of novel two genes from the mouse testis library, referred as a TEKT2-binding protein 1 (TEKT2BP1) and -protein 2 (TEKT2BP2) isolated.RT-PCR analysis indicated that TEKT2BP1, which is registered as a coiled-coil domain-containing protein 172 (Ccdc172), was predominantly expressed in rat testis and that its expression was increased after 3 weeks of postnatal development. Immunocytochemical studies discovered that TEKT2BP1 localized in the middle piece of rat spermatozoa, predominantly concentrated at the mitochondria sheath of the flagella(PMID: 24394471).", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "2.4394471E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000182645", "synonym": "C10ORF96, MGC35062", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc172", "ortholog_xenopus": "ccdc172, LOC116412442", "ortholog_zebrafish": "ccdc172", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.195, "sd_percent_ciliated": 0.195, "z_score": 0.195, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC181", "ensembl_id": "ENSG00000117477", "overexpression_effects": "Not Reported", "lof_effects": "Short or No Flagella", "percent_ciliated_cells_effects": "No Flagella", "description": "coiled-coil domain containing 181 [Source:HGNC Symbol,Acc:HGNC:28051]", "omim_id": "620891", "functional_summary": "CCDC181 is a structural component of the axonemal structure of sperm flagella as well as motile cilia. It might be a component of the apparatus necessary for the generation of ciliary motility. C-termi l region interacts with of the axoneme and Hook1, acting as a linker protein for phosphoprotein phosphatase 1 (PP1) to tack the phosphatase to the axonemal structure of cilia and flagella. Pronostic factor for prostate cancer. \"Ccdc181−/− mice displayed malformed flagella, including coiled, short, bent, absent, and irregular forms\" (PMID: 39245650)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "28282151, 28283191. PMID: 39245650", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000117477", "synonym": "C1ORF114, FLJ25846", "ortholog_mouse": "Ccdc181", "ortholog_xenopus": "ccdc181", "ortholog_zebrafish": "ccdc181", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.879, "sd_percent_ciliated": 0.879, "z_score": 0.879, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC183", "ensembl_id": "ENSG00000213213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 183 [Source:HGNC Symbol,Acc:HGNC:28236]", "omim_id": "615955", "functional_summary": "CCDC183 has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000213213", "synonym": "BA216L13.7, KIAA1984, MGC15438", "ortholog_mouse": "Ccdc183", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.76, "sd_percent_ciliated": 5.76, "z_score": 5.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC188", "ensembl_id": "ENSG00000234409", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Sperm Tail", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 188 [Source:HGNC Symbol,Acc:HGNC:51899]", "functional_summary": "CCDC188 has localized in basal body,flagella. \"sperm tails from Ccdc188 KO mice were significantly shorter than those from control males\" (PMID: 39292630)", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "https://www.proteinatlas.org/ , PMID: 39292630", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000234409", "ortholog_mouse": "Ccdc188", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.53, "sd_percent_ciliated": 3.53, "z_score": 3.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC28B", "ensembl_id": "ENSG00000160050", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "coiled-coil domain containing 28B [Source:HGNC Symbol,Acc:HGNC:28163]", "omim_id": "610162", "functional_summary": "Reportes as second site modifier of the ciliopathy Bardet-Biedl syndrome. It is a positive regulator of mTOR complex 2 and interacts with SIN1 and Kinesine 1 to regulate cilia length in vivo (23727834, 29445114).Transfected hTERT-RPE cells with our RNA oligos and measured the percentage of ciliated cells and the average ciliary length in controls, CCDC28B and IFT88 knockdown cells. We observed a significant reduction in both the number and length of cilia upon knockdown of CCDC28B(PMID: 23015189). CCDC28B maintains normal cilia length and ciliogenesis; LoF shortens cilia and reduces proportion of cilia-positive cells; OE can rescue(PMID: 29445114).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "23727834, 29445114,23015189 ,23727834, 23015189", "complex_components": {}, "pfam_ids": "PF13270", "domain_descriptions": "Coiled-coil domain-containing protein 28", "string_link": "https://string-db.org/network/9606/ENSG00000160050", "synonym": "MGC1203, RP4-622L5.5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc28b", "ortholog_xenopus": "ccdc28b", "ortholog_zebrafish": "ccdc28b", "ortholog_drosophila": "CG10874", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.142, "sd_percent_ciliated": 0.142, "z_score": 0.142, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0356, "sd_percent_ciliated": -0.0356, "z_score": -0.0356, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC32", "ensembl_id": "ENSG00000128891", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "coiled-coil domain containing 32 [Source:HGNC Symbol,Acc:HGNC:28295]", "omim_id": "618941", "functional_summary": "In the reti , CDH23 is located in the inner segment, connecting cilia, and basal body complex, as well as the ribbon sy pses of rod and cone photoreceptor cells (40429749). \"The number and length of cilia in Kupffer’s vesicle is decreased following ccdc32 depletion.\" (PMID: 32307552)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "40429749, PMID: 32307552 ,25613900; 32307552", "complex_components": {}, "pfam_ids": "PF14989", "domain_descriptions": "Coiled-coil domain containing protein 32", "string_link": "https://string-db.org/network/9606/ENSG00000128891", "synonym": "C15ORF57, MGC20481", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc32", "ortholog_xenopus": "ccdc32", "ortholog_zebrafish": "ccdc32", "ortholog_drosophila": "CG42557", "screens": {} }, { "gene": "CCDC33", "ensembl_id": "ENSG00000288407", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 33 [Source:HGNC Symbol,Acc:HGNC:26552]", "omim_id": "618525", "functional_summary": "Fam166b and Ccdc33 were found to be strongly restricted to the ciliary axoneme (29180514).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.9180514E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000288407", "synonym": "CC2D3, CT61, FLJ32855", "ortholog_mouse": "Ccdc33", "ortholog_xenopus": "ccdc33", "ortholog_zebrafish": "ccdc33", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9352, "sd_percent_ciliated": 1.9352, "z_score": 1.9352, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC34", "ensembl_id": "ENSG00000109881", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 34 [Source:HGNC Symbol,Acc:HGNC:25079]", "omim_id": "612324", "functional_summary": "CCDC34 has localized in flagella.", "localization": "flagella, Lysosomes", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF13904", "domain_descriptions": ["Coiled-coil domain-containing protein 34/181", "Coiled-coil domain-containing protein 34"], "string_link": "https://string-db.org/network/9606/ENSG00000109881", "synonym": "L15, NY-REN-41, RAMA3", "ortholog_mouse": "Ccdc34", "ortholog_xenopus": "ccdc34", "ortholog_zebrafish": "ccdc34", "ortholog_drosophila": "CG14011", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.543, "sd_percent_ciliated": 0.543, "z_score": 0.543, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.974, "sd_percent_ciliated": -11.974, "z_score": -11.974, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC38", "ensembl_id": "ENSG00000165972", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 38 [Source:HGNC Symbol,Acc:HGNC:26843]", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": "PF13863", "domain_descriptions": ["Domain of Not Reported function DUF4200", "Cilia- and flagella-associated domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000165972", "synonym": "FLJ40089", "ortholog_mouse": "Ccdc38", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.27, "sd_percent_ciliated": 1.27, "z_score": 1.27, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2069, "sd_percent_ciliated": 0.2069, "z_score": 0.2069, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC39", "ensembl_id": "ENSG00000284862", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain 39 molecular ruler complex subunit [Source:HGNC Symbol,Acc:HGNC:25244]", "omim_id": "613798", "functional_summary": "CCDC39 regulates centriole/deuterosome amplification and multiciliogenesis. CCDC39/40 protein complex might define the binding site of radial spokes along peripheral and provide anchoring sites for inner dynein arms (29317443). It is essential for assembly of inner dynein arms and the dynein regulatory complex (21131972, 21131974)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "29317443, 21131972, 21131974, 23255504 ,23255504", "complex_components": {}, "pfam_ids": "PF24161", "domain_descriptions": "Coiled-coil domain-containing protein 39", "string_link": "https://string-db.org/network/9606/ENSG00000284862", "synonym": "CFAP59, CILD14, DKFZP434A128, FAP59", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc39", "ortholog_xenopus": "ccdc39", "ortholog_zebrafish": "ccdc39", "ortholog_drosophila": "Ccdc39", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.806, "sd_percent_ciliated": -5.806, "z_score": -5.806, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC40", "ensembl_id": "ENSG00000291505", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain 40 molecular ruler complex subunit [Source:HGNC Symbol,Acc:HGNC:26090]", "omim_id": "613799", "functional_summary": "CCDC40 is required for assembly of motile cilia. It is responsible for CCDC39 axonemal recruitment. It is important for cytoplasmic pre- assembly, axonemal targeting, and/or transport of axonemal components CCDC39, GAS11 and D LI1. Necessary for assembly of inner dynein arms, the dynein regulatory complex and plays a role in the establishment of the left- right patterning (21131974). \"cilia were shorter in Kupffer’s vesicle and the pronephric tubules of ccdc40\" (PMID: 21131974)", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "21131974, 23255504 ,23255504", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291505", "synonym": "CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc40", "ortholog_xenopus": "ccdc40, LOC101731483, LOC108648942", "ortholog_zebrafish": "ccdc40", "ortholog_drosophila": "l(2)41Ab", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.613, "sd_percent_ciliated": 0.613, "z_score": 0.613, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1563, "sd_percent_ciliated": -4.1563, "z_score": -4.1563, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC42", "ensembl_id": "ENSG00000161973", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 42 [Source:HGNC Symbol,Acc:HGNC:26528]", "functional_summary": "CCDC42 is expressed in spermatids and localizes to the manchette, the connecting piece and the tail and also expressed in somatic cells in which it localizes to the centrosome(31475146).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "3.1475146E7", "complex_components": {}, "pfam_ids": "PF13863", "domain_descriptions": ["Domain of Not Reported function DUF4200", "Cilia- and flagella-associated domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000161973", "synonym": "CCDC42A, FLJ32734", "ortholog_mouse": "Ccdc42", "ortholog_xenopus": "cfap73, LOC116407616", "ortholog_zebrafish": "cfap73", "ortholog_drosophila": "CG10750, CG17564", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4754, "sd_percent_ciliated": 0.4754, "z_score": 0.4754, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC50", "ensembl_id": "ENSG00000152492", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 50 [Source:HGNC Symbol,Acc:HGNC:18111]", "omim_id": "611051", "functional_summary": "CCDC50 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15295", "domain_descriptions": ["Coiled-coil domain-containing protein 50", "N-terminal", "Coiled-coil domain-containing protein 50"], "string_link": "https://string-db.org/network/9606/ENSG00000152492", "synonym": "C3ORF6, DFNA44, YMER", "ortholog_mouse": "Ccdc50", "ortholog_xenopus": "ccdc50", "ortholog_zebrafish": "ccdc50a, ccdc50b", "ortholog_drosophila": "CG10283", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.2063, "sd_percent_ciliated": 8.8496, "z_score": -0.4608, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.76, "sd_percent_ciliated": 1.76, "z_score": 1.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.5155, "sd_percent_ciliated": 2.5155, "z_score": 2.5155, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC57", "ensembl_id": "ENSG00000176155", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "No Effect", "description": "coiled-coil domain containing 57 [Source:HGNC Symbol,Acc:HGNC:27564]", "functional_summary": "Ccdc57 localizes on BBs as a rotatio lly-asymmetric punctum, which polarizes away from the BF in BBs having achieved the rotatio l polarity to probably fix the BF-AO relationship. \"To explore the ciliary role of Ccdc57, ciliogenesis in BV was examined by immunofluorescence. The cilia in BV were much shorter than cilia in the spinal canal at 48 hpf, but no obvious differences in lengths and morphology were found between WT and MZccdc57 mutant embryos\" \"Ccdc57 is not required for ciliogenesis\" (PMID: 36669737)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "39592607, PMID: 36669737", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000176155", "synonym": "FLJ00130, FLJ23754", "ortholog_mouse": "Ccdc57", "ortholog_xenopus": "ccdc57", "ortholog_zebrafish": "ccdc57", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.2029, "sd_percent_ciliated": -5.2029, "z_score": -5.2029, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC6", "ensembl_id": "ENSG00000108091", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 6 [Source:HGNC Symbol,Acc:HGNC:18782]", "omim_id": "601985", "functional_summary": "Platelet-derived growth factor A (PDGFA) and coiled-coil domain-containing protein 6 (CCDC6) are two interactions that link Cluap1 to ciliogenesis and cancer development ( 29615496).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.9615496E7", "complex_components": {}, "pfam_ids": "PF09755", "domain_descriptions": "Protein of Not Reported function DUF2046", "string_link": "https://string-db.org/network/9606/ENSG00000108091", "synonym": "D10S170, H4, PTC, PTC1, TPC, TST1", "ortholog_mouse": "Ccdc6", "ortholog_c_elegans": "T09B9.4", "ortholog_xenopus": "ccdc6", "ortholog_zebrafish": "ccdc6a, ccdc6b", "ortholog_drosophila": "Ccdc6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.8576, "sd_percent_ciliated": 4.2933, "z_score": 0.2239 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.36, "sd_percent_ciliated": 2.36, "z_score": 2.36 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.1153, "sd_percent_ciliated": -1.1153, "z_score": -1.1153 } ] }, { "gene": "CCDC61", "ensembl_id": "ENSG00000104983", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 61 [Source:HGNC Symbol,Acc:HGNC:33629]", "omim_id": "620676", "functional_summary": "CCDC61 is a paralog of SAS6, XRCC4, XLF, and PAXX, CCDC61 binds to mainly via its coiled-coil domain, and associates with basal bodies and plays a role in ciliogenesis(32375023).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.2375023E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000104983", "synonym": "HVFL3, VFL3", "ortholog_mouse": "Ccdc61", "ortholog_xenopus": "ccdc61", "ortholog_zebrafish": "ccdc61", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.604, "sd_percent_ciliated": 0.604, "z_score": 0.604, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.191, "sd_percent_ciliated": -7.191, "z_score": -7.191, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC63", "ensembl_id": "ENSG00000173093", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 63 [Source:HGNC Symbol,Acc:HGNC:26669]", "omim_id": "617969", "functional_summary": "in Tetrahyme , loss of either FAP61 or FAP251 reduces cell swimming and affects the ciliary waveform and that RS3 is either missing or incomplete, the CSC proteins FAP61 and FAP251 build the basal substructures of radial spoke 3 in cilia(25694453).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "25694453 ,21953912", "complex_components": {}, "pfam_ids": "PF21773", "domain_descriptions": ["ODAD1", "central coiled coil region", "Outer dynein arm-docking/Coiled-coil domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000173093", "synonym": "FLJ35843, ODA5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc63", "ortholog_xenopus": "ccdc63", "ortholog_zebrafish": "odad1", "ortholog_drosophila": "Ccdc114, wam", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.292, "sd_percent_ciliated": 0.292, "z_score": 0.292, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7592, "sd_percent_ciliated": -2.7592, "z_score": -2.7592, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC65", "ensembl_id": "ENSG00000139537", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 65 [Source:HGNC Symbol,Acc:HGNC:29937]", "omim_id": "611088", "functional_summary": "This gene encodes a protein that is required for proper cilia motility and regulation of dynein activity (24094744). Assembly and mainte nce of the protein components of the nexin- dynein regulatory complex (N- DRC) and thus the regulation of cilia motion. Maintaince of the integrity of N-DRC required for regulation of dynein-driven microtubule sliding (23991085, 29167384).", "localization": "cilia , basal body , transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Transition zone", "reference": "23991085, 24094744, 29167384, 23991085, 24094744 ,23991085, 24094744", "complex_components": {}, "pfam_ids": "PF14772", "domain_descriptions": ["Dynein regulatory complex protein 1/2", "N-terminal", "Dynein regulatory complex protein"], "string_link": "https://string-db.org/network/9606/ENSG00000139537", "synonym": "CFAP250, CILD27, DRC2, FAP250, FLJ35732, NYD-SP28", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc65", "ortholog_xenopus": "ccdc65", "ortholog_zebrafish": "drc2", "ortholog_drosophila": "CG10510, CG30259", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.561, "sd_percent_ciliated": 0.561, "z_score": 0.561, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.8875, "sd_percent_ciliated": 2.8875, "z_score": 2.8875, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC66", "ensembl_id": "ENSG00000180376", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "coiled-coil domain containing 66 [Source:HGNC Symbol,Acc:HGNC:27709]", "omim_id": "619287", "functional_summary": "Organisation of spindle pole and centriolar satellite. It is involved in cilium formation, satellite organization, BBS4 recruitment to the primary cilium and ciliary trafficking. Overexpression induces formation of microtubule bundles, disruption of centriolar satellite organization and inhibits ciliogenesis (28235840, 31582766). Interacts with ARMC9 and TOGORAM1 (32453716). When mutated in dogs causes late onset reti l degeneration (33273526) The fraction of ciliated cells was reduced upon CCDC66 depletion at all time points after serum starvation and did not reach control levels even at 48 h post serum starvation.Cilia that formed in CCDC66-depleted cells were significantly shorter relative to those in control cells at all time points following serum starvation (PMID: 36606424).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28235840, 31582766, 32453716, 33273526,36606424", "complex_components": {}, "pfam_ids": "PF15236", "domain_descriptions": ["Coiled-coil domain-containing protein 66", "CCDC66 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000180376", "synonym": "DKFZP686C0433", "ortholog_mouse": "Ccdc66", "ortholog_xenopus": "ccdc66", "ortholog_zebrafish": "ccdc66", "ortholog_drosophila": "CG13251", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.64, "sd_percent_ciliated": 2.64, "z_score": 2.64, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7779, "sd_percent_ciliated": -1.7779, "z_score": -1.7779, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC74A", "ensembl_id": "ENSG00000163040", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 74A [Source:HGNC Symbol,Acc:HGNC:25197]", "functional_summary": "CCDC74A has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,26947080; 28340181", "complex_components": {}, "pfam_ids": ["PF14916", "PF14917"], "domain_descriptions": ["Coiled coil protein 74", "C-terminal", "CCDC92/74", "N-terminal", "Coiled-coil domain-containing protein 74A/74B/92"], "string_link": "https://string-db.org/network/9606/ENSG00000163040", "synonym": "FLJ40345", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc74a", "ortholog_xenopus": "ccdc74b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.222, "sd_percent_ciliated": 0.222, "z_score": 0.222, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC74B", "ensembl_id": "ENSG00000292118", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Numbers", "description": "coiled-coil domain containing 74B [Source:HGNC Symbol,Acc:HGNC:25267]", "functional_summary": "CCDC74B has localized in cilia. Reduction in both the number and length of cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273, 35653384 ,28340181", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292118", "synonym": "DKFZP434E2321", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc74a", "ortholog_xenopus": "ccdc74b", "screens": {} }, { "gene": "CCDC78", "ensembl_id": "ENSG00000162004", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 78 [Source:HGNC Symbol,Acc:HGNC:14153]", "omim_id": "614666", "functional_summary": "Centriole amplification mediated by deuterosome in multi-ciliated cells. Recruitment of Cep152 to the deuterosome required for centriole biogenesis. Ccdc78 KD severely reduced the length of MCC cilia.", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development, Muscle contraction & physiology", "reference": "24075808, 40027778 ,24075808 *", "complex_components": {}, "pfam_ids": "PF14739", "domain_descriptions": ["Domain of Not Reported function DUF4472", "Coiled-coil domain-containing protein 78"], "string_link": "https://string-db.org/network/9606/ENSG00000162004", "synonym": "C16ORF25, FLJ34512", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc78", "ortholog_xenopus": "ccdc78", "ortholog_zebrafish": "ccdc78", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.516, "sd_percent_ciliated": 0.516, "z_score": 0.516, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC81", "ensembl_id": "ENSG00000149201", "overexpression_effects": "Not Reported", "lof_effects": "Shorter Cilia", "percent_ciliated_cells_effects": "Reduced Cilia Number", "description": "coiled-coil domain containing 81 [Source:HGNC Symbol,Acc:HGNC:26281]", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808). Silencing of CCDC81 resulted in a decrease in both the frequency and length of primary cilia.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "25074808, https://doi.org/10.1002/cm.70021", "complex_components": {}, "pfam_ids": ["PF14908", "PF18289"], "domain_descriptions": ["Coiled-coil domain-containing protein 81", "CCDC81", "HU domain 1", "CCDC81", "HU domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000149201", "synonym": "FLJ16339, FLJ23514", "ortholog_mouse": "Ccdc81", "ortholog_xenopus": "ccdc81", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CCDC88A", "ensembl_id": "ENSG00000115355", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 88A [Source:HGNC Symbol,Acc:HGNC:25523]", "omim_id": "609736", "functional_summary": "Conserved sig ling and scaffolding protein Girdin localizes to the proximal regions of centrioles and regulates BB positioning and ciliogenesis in Caenorhabditis elegans sensory neurons and human RPE-1 cells. Girdin depletion alters localization of the intercentriolar linker and ciliary rootlet component rootletin, and rootletin knockdown in RPE-1 cells mimics Girdin-dependent phenotypes. C. elegans Girdin also regulates localization of the apical junction component AJM-1, suggesting that in nematodes Girdin may position BBs via rootletin- and AJM-1-dependent anchoring to the cytoskeleton and plasma membrane, respectively(27623382).", "localization": "basal body, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7623382E7", "complex_components": "CCDC88A", "pfam_ids": "PF19047", "domain_descriptions": ["Calponin homology domain", "CH domain superfamily", "HOOK", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000115355", "synonym": "APE, FLJ10392, GIV, GRDN, HKRP1, KIAA1212", "ortholog_mouse": "Ccdc88a", "ortholog_c_elegans": "grdn-1", "ortholog_xenopus": "ccdc88a", "ortholog_zebrafish": "ccdc88aa, ccdc88ab", "ortholog_drosophila": "Girdin", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.08, "sd_percent_ciliated": 3.08, "z_score": 3.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3822, "sd_percent_ciliated": -0.3822, "z_score": -0.3822, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC88C", "ensembl_id": "ENSG00000015133", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 88C [Source:HGNC Symbol,Acc:HGNC:19967]", "omim_id": "611204", "functional_summary": "Mutations in the CCDC88C gene cause Spinocerebellar Ataxia (PMID: 25062847).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Muscle contraction & physiology", "reference": "2.5062847E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000015133", "synonym": "DAPLE, HKRP2, KIAA1509, SCA40", "ortholog_mouse": "Ccdc88c", "ortholog_c_elegans": "grdn-1", "ortholog_xenopus": "ccdc88c", "ortholog_zebrafish": "ccdc88c", "ortholog_drosophila": "Girdin", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.595, "sd_percent_ciliated": 0.595, "z_score": 0.595, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.3195, "sd_percent_ciliated": 3.3195, "z_score": 3.3195, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC91", "ensembl_id": "ENSG00000123106", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 91 [Source:HGNC Symbol,Acc:HGNC:24855]", "omim_id": "617366", "functional_summary": "CCDC91 has localized in basal body,flagella.", "localization": "basal body,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000123106", "synonym": "DKFZP779L1558, FLJ11088, P56", "ortholog_mouse": "Ccdc91", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.56, "sd_percent_ciliated": 3.56, "z_score": 3.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4522, "sd_percent_ciliated": 0.4522, "z_score": 0.4522, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCDC92", "ensembl_id": "ENSG00000275035", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil domain containing 92 [Source:HGNC Symbol,Acc:HGNC:29563]", "functional_summary": "TTBK2 directly phosphorylates CEP83, CEP89, Rabin8, CCDC92, and DVL3 (25297623).", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "2.5297623E7", "complex_components": ["CCDC92", "CEP164"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000275035", "synonym": "FLJ22471", "ortholog_mouse": "Ccdc92", "ortholog_c_elegans": "K01A2.10", "ortholog_xenopus": "ccdc92", "ortholog_zebrafish": "ccdc92", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.792, "sd_percent_ciliated": 0.792, "z_score": 0.792, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -14.6268, "sd_percent_ciliated": -14.6268, "z_score": -14.6268, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCHCR1", "ensembl_id": "ENSG00000204536", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "coiled-coil alpha-helical rod protein 1 [Source:HGNC Symbol,Acc:HGNC:13930]", "omim_id": "605310", "functional_summary": "CCHCR1 recruits P-body proteins to the centrosome through interacting with EDC4 via its N-terminal coiled-coil domain. Depletion of either CCHCR1 or P-body components EDC4 and DEAD-Box Helicase 6 (DDX6) impairs ciliogenesis(PMID: 40883668).", "localization": "Ciliary associated gene, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "4.0883668E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000204536", "synonym": "C6ORF18, HCR", "ortholog_mouse": "Cchcr1", "ortholog_xenopus": "cchcr1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 21.3073, "sd_percent_ciliated": 8.3167, "z_score": -2.0236 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0825, "sd_percent_ciliated": 0.0825, "z_score": 0.0825 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.4638, "sd_percent_ciliated": -2.4638, "z_score": -2.4638 } ] }, { "gene": "CCL2", "ensembl_id": "ENSG00000108691", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "C-C motif chemokine ligand 2 [Source:HGNC Symbol,Acc:HGNC:10618]", "omim_id": "158105", "functional_summary": "Loss of LKB1 or PC1 increases CCL2 expression and peritubular macrophage numbers and promotes ciliopathy phenotypes. The Polycystic Kidney Disase (PKD) phenotype seen upon PKD1 depletion is ameliorated in the absence of cilia or tubular CCL2 ( 29925518).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9925518E7", "complex_components": {}, "pfam_ids": "PF00048", "domain_descriptions": ["Chemokine interleukin-8-like domain", "Chemokine interleukin-8-like superfamily", "CC chemokine", "conserved site", "Chemokine beta/gamma/delta"], "string_link": "https://string-db.org/network/9606/ENSG00000108691", "synonym": "GDCF-2, HC11, MCAF, MCP-1, MCP1, MGC9434, SCYA2, SMC-CF", "ortholog_mouse": "Ccl12, Ccl2", "ortholog_zebrafish": "ccl38.1, ccl38.6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.9191, "sd_percent_ciliated": 3.0587, "z_score": 0.5949, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4578, "sd_percent_ciliated": -2.4578, "z_score": -2.4578, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCN2", "ensembl_id": "ENSG00000118523", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cellular communication network factor 2 [Source:HGNC Symbol,Acc:HGNC:2500]", "omim_id": "121009", "functional_summary": "PTH1R localized to the primary cilium and this ciliary localization enhances parathyroid hormone (PTH) sig ling, leading to the transcription of integrin αvβ6. Subsequently, this activates the transforming growth factor-beta (TGF-β) pathway, which induces CCN2 expression. CCN2 then contributes to extracellular matrix production, aiding in disc homeostasis and regeneration ( 30038820).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "3.003882E7", "complex_components": ["ACTB", "ACTG1", "CCN2", "VEGFA"], "pfam_ids": ["PF00219", "PF00007", "PF19035", "PF00093"], "domain_descriptions": ["Insulin-like growth factor-binding protein", "IGFBP", "Thrombospondin type-1 (TSP1) repeat", "VWFC domain", "Cystine knot", "C-terminal", "Glycoprotein hormone subunit beta", "Growth factor receptor cysteine-rich domain superfamily", "IGFBP-related", "CNN", "Insulin-like growth factor binding protein", "N-terminal", "Cys-rich conserved site", "Thrombospondin type-1 (TSP1) repeat superfamily", "CCN", "TSP1 domain", "Cellular Communication Network Factor"], "string_link": "https://string-db.org/network/9606/ENSG00000118523", "synonym": "CTGF, IGFBP8", "ortholog_mouse": "Ccn2", "ortholog_xenopus": "ccn2", "ortholog_zebrafish": "ccn2a, ccn2b", "ortholog_drosophila": "Ccn", "screens": {} }, { "gene": "CCND2", "ensembl_id": "ENSG00000118971", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin D2 [Source:HGNC Symbol,Acc:HGNC:1583]", "omim_id": "123833", "functional_summary": "CCND2 has localized in cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CCND2", "CDK4", "CDKN1B", "CDKN2A", "CDK6", "SERTAD1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000118971", "ortholog_mouse": "Ccnd2", "ortholog_c_elegans": "cyd-1", "ortholog_xenopus": "ccnd2", "ortholog_zebrafish": "ccnd2a, ccnd2b", "ortholog_drosophila": "CycD", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.6594, "sd_percent_ciliated": 0.5468, "z_score": -1.254, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.33, "sd_percent_ciliated": 1.33, "z_score": 1.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.8477, "sd_percent_ciliated": -5.8477, "z_score": -5.8477, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCNL2", "ensembl_id": "ENSG00000221978", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin L2 [Source:HGNC Symbol,Acc:HGNC:20570]", "omim_id": "613482", "functional_summary": "CCNL2 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000221978", "synonym": "ANIA-6B, CCNM, CCNS, HLA-ISO, PCEE, SB138", "ortholog_mouse": "Ccnl2", "ortholog_c_elegans": "cyl-1", "ortholog_xenopus": "ccnl2", "ortholog_drosophila": "CG16903", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.1565, "sd_percent_ciliated": 13.3181, "z_score": -0.8303, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 11, "sd_percent_ciliated": 11, "z_score": 11, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4101, "sd_percent_ciliated": 0.4101, "z_score": 0.4101, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCNO", "ensembl_id": "ENSG00000152669", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia number", "description": "cyclin O [Source:HGNC Symbol,Acc:HGNC:18576]", "omim_id": "607752", "functional_summary": "Regulator of deuterosome formation and function for the amplification of centrioles in MCCs, for docking of centrioles to the apical cell membrane (25712475). Cyclin O is required to generate the basal bodies necessary for multiple cilia formation by promoting a process of centriole assembly and maturation (25048963) CCNO has role in transcriptional regulation of ciliary development (39094231)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transcription regulation", "reference": "25712475, 25048963, 24747639, 39094231 ,24747639", "complex_components": {}, "pfam_ids": ["PF02984", "PF00134"], "domain_descriptions": ["Cyclin", "C-terminal domain", "Cyclin", "N-terminal", "Cyclin-like domain", "Cyclin-like superfamily", "Cyclin"], "string_link": "https://string-db.org/network/9606/ENSG00000152669", "synonym": "CCNU, FLJ22422, UDG2, UNG2", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccno", "ortholog_xenopus": "ccno", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.15, "sd_percent_ciliated": 0.15, "z_score": 0.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3912, "sd_percent_ciliated": -0.3912, "z_score": -0.3912, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCNQ", "ensembl_id": "ENSG00000262919", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin Q [Source:HGNC Symbol,Acc:HGNC:28434]", "omim_id": "300708", "functional_summary": "Mutations in the CCNQ gene cause STAR Syndrome (PMID: 28225384). The gene causes STAR syndrome with Syndactyly, telecanthus, anogenital and renal malformations symptoms (37072495)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "28225384, 37072495 ,28225384", "complex_components": ["CCNQ", "CDK10"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000262919", "synonym": "CYCM, FAM58A", "ciliopathy": "STAR Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccnq", "ortholog_xenopus": "ccnq", "ortholog_zebrafish": "ccnq", "ortholog_drosophila": "koko", "screens": {} }, { "gene": "CCNT1", "ensembl_id": "ENSG00000129315", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin T1 [Source:HGNC Symbol,Acc:HGNC:1599]", "omim_id": "143055", "functional_summary": "CCNT1 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CCNT1", "CDK9", "CPSF2", "NCL", "POLR2A", "PPARGC1A", "BRD4", "MED1", "MED12", "MED14", "MED17", "MED24", "SKP2", "GRN", "CDK7", "CDK8", "EP300", "INPP5K", "MAML1", "NOTCH1", "RBPJ", "SUPT16H", "SUPT6H", "HEXIM1", "AFF1", "AFF4", "CCNT2", "EAF1", "ELL", "ELL2", "ELL3", "MLLT1", "MLLT3", "LARP7"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000129315", "synonym": "CCNT, CYCT1, HIVE1", "ortholog_mouse": "Ccnt1", "ortholog_c_elegans": "cit-1.1, cit-1.2", "ortholog_xenopus": "ccnt1", "ortholog_zebrafish": "ccnt1", "ortholog_drosophila": "CycT", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.2221, "sd_percent_ciliated": 6.9684, "z_score": -0.7012 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 55.3, "sd_percent_ciliated": 55.3, "z_score": 55.3 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.4928, "sd_percent_ciliated": -7.4928, "z_score": -7.4928 } ] }, { "gene": "CCP110", "ensembl_id": "ENSG00000103540", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "centriolar coiled-coil protein 110 [Source:HGNC Symbol,Acc:HGNC:24342]", "omim_id": "609544", "functional_summary": "Suppressor of ciliogenesis by acting simply as a passive physical barrier and by capping the growing ends of to prevent their elongation. Regulation the assembly of subdistal appendages (SDA) core components. Has a role in regulating centrosome duplication and separation (26965371). Regulates the length of centrioles and prevents aberrant formation of primary cilia, components to a CP110 scaffold may be needed to facilitate depolymerization (21620453). Studies suggest that CP110 might control discrete functions in the centrosome cycle and constitutes a set of controls that govern the switch from centriolar to basal body function (17719545).", "localization": "basal body, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "26965371, 21620453, 17719545 ,17719545, 32402286", "complex_components": ["CCP110", "CEP290", "C2CD3", "CBY1", "CEP162", "CEP164", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1", "CALM1", "CETN2"], "pfam_ids": "PF16025", "domain_descriptions": "Centriolar coiled-coil protein of 110kDa", "string_link": "https://string-db.org/network/9606/ENSG00000103540", "synonym": "CP110, KIAA0419", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccp110", "ortholog_xenopus": "ccp110", "ortholog_zebrafish": "cp110", "ortholog_drosophila": "Cp110", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.19, "sd_percent_ciliated": 2.19, "z_score": 2.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.076, "sd_percent_ciliated": -1.076, "z_score": -1.076, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCRL2", "ensembl_id": "ENSG00000121797", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "C-C motif chemokine receptor like 2 [Source:HGNC Symbol,Acc:HGNC:1612]", "omim_id": "608379", "functional_summary": "CCRL2 has localized in cilia. CCRL2 plays role in G-protein-coupled receptor signaling pathway (GO:0007186) and Calcium-mediated signaling (GO:0019722) as a primary cilium tip protein (41005307)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 41005307", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000121797", "synonym": "ACKR5, CKRX, CRAM-A, CRAM-B, HCR", "ortholog_mouse": "Ccrl2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.6101, "sd_percent_ciliated": 7.0785, "z_score": 0.194, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9114, "sd_percent_ciliated": -4.9114, "z_score": -4.9114, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CCT2", "ensembl_id": "ENSG00000166226", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "chaperonin containing TCP1 subunit 2 [Source:HGNC Symbol,Acc:HGNC:1615]", "omim_id": "605139", "functional_summary": "Roles in the folding of 尾- propeller proteins, such as G尾1, in addition to its major target proteins, actin and tubulin. Interacts with chaperonin type BBSs, including BBSs 6, 10, and 12. Mutations in CCT2 could lead to genetic reti l diseases (27645772) Mutations in the CCT2 gene is causative for severe syndromic retinopathies or non-syndromic retinal dystrophies such as Leber congenital amaurosis (LCA) (40103630)", "localization": "basal body, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Ciliary membrane", "reference": "2.7645772E7", "complex_components": ["Cct2", "Cct3", "Cct4", "Cct5", "Cct6a", "Cct7", "Cct8", "Tcp1", "CCT2", "CCT3", "CCT4", "CCT5", "CCT6A", "CCT7", "CCT8", "TCP1", "PFDN1", "PFDN2", "PFDN4", "PFDN5", "PFDN6", "VBP1", "CCT6B", "Pdcl", "BBS10", "BBS12", "BBS7", "MKKS"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin TCP-1", "conserved site", "Chaperonin Cpn60/GroEL/TCP-1 family", "T-complex protein 1", "beta subunit", "Chaperone tailless complex polypeptide 1 (TCP-1)", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "TCP-1 chaperonin-containing T-complex"], "string_link": "https://string-db.org/network/9606/ENSG00000166226", "synonym": "CCTB", "ortholog_mouse": "Cct2", "ortholog_c_elegans": "cct-2", "ortholog_xenopus": "cct2", "ortholog_zebrafish": "cct2", "ortholog_drosophila": "CCT2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.4628, "sd_percent_ciliated": 3.5816, "z_score": 0.6607 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.45, "sd_percent_ciliated": 3.45, "z_score": 3.45 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.8724, "sd_percent_ciliated": -5.8724, "z_score": -5.8724 } ] }, { "gene": "CCT3", "ensembl_id": "ENSG00000163468", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chaperonin containing TCP1 subunit 3 [Source:HGNC Symbol,Acc:HGNC:1616]", "omim_id": "600114", "functional_summary": "USH proteins mutually interact and partially co-localize with the TRiC/CCT subunit CCT3 in the ciliary region of photoreceptor cells and ADGRV1 interacts with the CCT3 subunit of the TriC/CCT chaperonin complex (37427378).", "localization": "basal body , cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "37427378, 40103630 ,7961900", "complex_components": ["Cct2", "Cct3", "Cct4", "Cct5", "Cct6a", "Cct7", "Cct8", "Tcp1", "CCT2", "CCT3", "CCT4", "CCT5", "CCT6A", "CCT7", "CCT8", "TCP1", "PFDN1", "PFDN2", "PFDN4", "PFDN5", "PFDN6", "VBP1", "CCT6B", "Pdcl", "BBS10", "BBS12", "BBS7", "MKKS", "TUBB2A", "TUBB2B"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin TCP-1", "conserved site", "Chaperonin Cpn60/GroEL/TCP-1 family", "T-complex protein 1", "gamma subunit", "Chaperone tailless complex polypeptide 1 (TCP-1)", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "TCP-1 chaperonin-containing T-complex", "Thermosome subunit alpha"], "string_link": "https://string-db.org/network/9606/ENSG00000163468", "synonym": "CCTG, TRIC5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cct3", "ortholog_c_elegans": "cct-3", "ortholog_xenopus": "cct3", "ortholog_zebrafish": "cct3", "ortholog_drosophila": "CCT3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.2168, "sd_percent_ciliated": 6.6095, "z_score": 0.3886 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.61, "sd_percent_ciliated": 7.61, "z_score": 7.61 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -11.2284, "sd_percent_ciliated": -11.2284, "z_score": -11.2284 } ] }, { "gene": "CCT5", "ensembl_id": "ENSG00000150753", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "chaperonin containing TCP1 subunit 5 [Source:HGNC Symbol,Acc:HGNC:1618]", "omim_id": "610150", "functional_summary": "CCT5 has localized in flagella. CCT5 forms a complex with CEP55, and Aurora A during cilia disassembly (33475699)", "localization": "flagella, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Ciliary membrane", "reference": "https://www.proteinatlas.org/, 33475699", "complex_components": ["Cct2", "Cct3", "Cct4", "Cct5", "Cct6a", "Cct7", "Cct8", "Tcp1", "CCT2", "CCT3", "CCT4", "CCT5", "CCT6A", "CCT7", "CCT8", "TCP1", "PFDN1", "PFDN2", "PFDN4", "PFDN5", "PFDN6", "VBP1", "CCT6B", "Pdcl", "BBS10", "BBS12", "BBS7", "MKKS", "GNB5", "GNB1", "PDCL"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin TCP-1", "conserved site", "Chaperonin Cpn60/GroEL/TCP-1 family", "T-complex protein 1", "epsilon subunit", "Chaperone tailless complex polypeptide 1 (TCP-1)", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "TCP-1 chaperonin-containing T-complex", "Thermosome subunit alpha"], "string_link": "https://string-db.org/network/9606/ENSG00000150753", "synonym": "CCTE, KIAA0098", "ortholog_mouse": "Cct5", "ortholog_c_elegans": "cct-5", "ortholog_xenopus": "cct5", "ortholog_zebrafish": "cct5", "ortholog_drosophila": "CCT5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.3421, "sd_percent_ciliated": 6.0834, "z_score": 0.8884 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.84, "sd_percent_ciliated": 8.84, "z_score": 8.84 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.3198, "sd_percent_ciliated": -8.3198, "z_score": -8.3198 } ] }, { "gene": "CD24", "ensembl_id": "ENSG00000272398", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "CD24 molecule [Source:HGNC Symbol,Acc:HGNC:1645]", "omim_id": "600074", "functional_summary": "High-magnification images of co-staining with 纬-tubulin (for S100尾) or acetylated-tubulin (for CD24) confirmed E1 and E2, but not E3, labelling (Fig. 3c,d,h,i insets). S100尾 was localized to the cytoplasm, whereas CD24 was expressed on the apical surface and cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "2.806722E7", "complex_components": {}, "pfam_ids": "PF14984", "domain_descriptions": "Signal transducer CD24", "string_link": "https://string-db.org/network/9606/ENSG00000272398", "synonym": "CD24A", "ortholog_mouse": "Cd24a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.3668, "sd_percent_ciliated": 8.4737, "z_score": -1.1682 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.953, "sd_percent_ciliated": 0.953, "z_score": 0.953 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0715, "sd_percent_ciliated": 0.0715, "z_score": 0.0715 } ] }, { "gene": "CD2AP", "ensembl_id": "ENSG00000198087", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "CD2 associated protein [Source:HGNC Symbol,Acc:HGNC:14258]", "omim_id": "604241", "functional_summary": "CD2AP/CIN85 proteins regulate ciliary length by remodeling the actin network (36754282).EHBP1L1- and CD2AP/CIN85-depleted cells had elongated cilia. The aberrantly elongated cilia phenotype and the ciliary localization defect of CD2AP/CIN85 in EHBP1L1-depleted cells were rescued by the expression of WT EHBP1L1, although this was not observed in the CD2AP/CIN85-binding-deficient mutant, indicating that the EHBP1L1-CD2AP/CIN85 interaction is crucial for controlling ciliary length(36754282).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, ECM & connective tissue", "reference": "3.6754282E7", "complex_components": ["AMOT", "ARHGAP17", "CAPZA1", "CAPZB", "CD2AP", "PALS1", "PATJ", "SH3KBP1", "CTNND1", "NPHS1", "TJP1", "CDH3"], "pfam_ids": ["PF14604", "PF00018"], "domain_descriptions": ["SH3 domain", "CD2-associated protein", "first SH3 domain", "CD2-associated protein", "second SH3 domain", "CD2-associated protein", "third SH3 domain", "SH3-like domain superfamily", "Endophilin/SH3RF"], "string_link": "https://string-db.org/network/9606/ENSG00000198087", "synonym": "CMS", "ortholog_mouse": "Cd2ap", "ortholog_c_elegans": "cdap-2", "ortholog_xenopus": "cd2ap", "ortholog_zebrafish": "cd2ap", "ortholog_drosophila": "cindr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.9847, "sd_percent_ciliated": 2.7146, "z_score": -0.4876, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.78, "sd_percent_ciliated": 2.78, "z_score": 2.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.4115, "sd_percent_ciliated": -12.4115, "z_score": -12.4115, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CD36", "ensembl_id": "ENSG00000135218", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "CD36 molecule (CD36 blood group) [Source:HGNC Symbol,Acc:HGNC:1663]", "omim_id": "173510", "functional_summary": "CD36 was both targeted to sensory cilia and capable of restoring, albeit only partially, responses to pheromone(27302750).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27302750, 26441537", "complex_components": ["CD36", "TLR4", "TLR6", "TLR2", "PCSK9", "KDR", "PTPN6", "THBS1"], "pfam_ids": "PF01130", "domain_descriptions": ["CD36 family", "CD36/scavenger receptor class B member 1"], "string_link": "https://string-db.org/network/9606/ENSG00000135218", "synonym": "FAT, GP3B, GP4, GPIIIB, GPIV, SCARB3", "ortholog_mouse": "Cd36", "ortholog_c_elegans": "scav-1, scav-2, scav-3, scav-4, scav-5, scav-6", "ortholog_xenopus": "cd36, cd36l", "ortholog_zebrafish": "cd36", "ortholog_drosophila": "Snmp1, Snmp2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.5857, "sd_percent_ciliated": 12.6532, "z_score": -0.0513, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 20.7, "sd_percent_ciliated": 20.7, "z_score": 20.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.8618, "sd_percent_ciliated": -4.8618, "z_score": -4.8618, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CD44", "ensembl_id": "ENSG00000026508", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "CD44 molecule (IN blood group) [Source:HGNC Symbol,Acc:HGNC:1681]", "omim_id": "107269", "functional_summary": "The primary cilium is linked to OPN sig ling pathway and actin cytoskeleton pathway via CD44 and Cdc42. The primary cilium acts as an FAK regulation unit consisting of CD44 and ciliary integrin尾1 in MSCs(32339903).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, ECM & connective tissue", "reference": "3.2339903E7", "complex_components": ["CD44", "HMMR", "MAPK1", "MAPK3", "LRP1", "ERBB2", "GRB2", "VAV2", "CD38", "ITGA4", "MMP9"], "pfam_ids": "PF00193", "domain_descriptions": ["Link domain", "CD44 antigen", "C-type lectin-like/link domain superfamily", "C-type lectin fold", "CD44 antigen-like"], "string_link": "https://string-db.org/network/9606/ENSG00000026508", "synonym": "CD44R, CDW44, CSPG8, ECM-III, H-CAM, HCELL, HERMES-1, HUTCH-1, HUTCH-I, IN, MC56, MDU2, MDU3, MIC4, PGP-1, PGP1", "ortholog_mouse": "Cd44", "ortholog_xenopus": "cd44", "ortholog_zebrafish": "cd44a, cd44b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.8336, "sd_percent_ciliated": 2.6445, "z_score": 0.0999 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.95, "sd_percent_ciliated": 1.95, "z_score": 1.95 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.6462, "sd_percent_ciliated": -10.6462, "z_score": -10.6462 } ] }, { "gene": "CD79A", "ensembl_id": "ENSG00000105369", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "CD79a molecule [Source:HGNC Symbol,Acc:HGNC:1698]", "omim_id": "112205", "functional_summary": "pre-cystic Cd79a-Tsc1 KO tubule cells display abnormal cilia elongation as well as defective PCP, resulting in alterations in both convergent extension (CE) and oriented cell division (OCD) ( 36627370).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.662737E7", "complex_components": ["CD79A", "CD79B"], "pfam_ids": ["PF02189", "PF13927"], "domain_descriptions": ["Phosphorylated immunoreceptor signalling ITAM", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin-like fold", "Immunoglobulin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000105369", "synonym": "IG-ALPHA, IGA, IGALPHA, MB-1, MB1", "ortholog_mouse": "Cd79a", "ortholog_xenopus": "cd79a", "ortholog_zebrafish": "cd79a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.8528, "sd_percent_ciliated": 5.9768, "z_score": 0.5868 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.76, "sd_percent_ciliated": 5.76, "z_score": 5.76 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6415, "sd_percent_ciliated": -0.6415, "z_score": -0.6415 } ] }, { "gene": "CD81", "ensembl_id": "ENSG00000110651", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "CD81 molecule [Source:HGNC Symbol,Acc:HGNC:1701]", "omim_id": "186845", "functional_summary": "CD81 and CD82 localized in cilia (26585297).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.6585297E7", "complex_components": ["ADGRG1", "CD81", "GNAQ", "GNB1", "ITGA4", "ITGB1", "PCSK9"], "pfam_ids": "PF00335", "domain_descriptions": ["Tetraspanin", "EC2 domain superfamily", "Tetraspanin/Peripherin", "Tetraspanin", "animals", "Tetraspanin", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000110651", "synonym": "S5.7, TAPA-1, TAPA1, TSPAN28", "ortholog_mouse": "Cd81", "ortholog_c_elegans": "tsp-6, tsp-9", "ortholog_xenopus": "cd81", "ortholog_zebrafish": "cd81a, cd81b", "ortholog_drosophila": "Tsp96F", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.8754, "sd_percent_ciliated": 3.1964, "z_score": -0.2585, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.2351, "sd_percent_ciliated": -12.2351, "z_score": -12.2351, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CD82", "ensembl_id": "ENSG00000085117", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "CD82 molecule [Source:HGNC Symbol,Acc:HGNC:6210]", "omim_id": "600623", "functional_summary": "CD81 and CD82 localized in cilia (26585297).", "localization": "cilia, Endosome", "functional_category": "Ciliary assembly/disassembly", "reference": "2.6585297E7", "complex_components": {}, "pfam_ids": "PF00335", "domain_descriptions": ["Tetraspanin/Peripherin", "Tetraspanin", "conserved site", "Tetraspanin", "animals", "Tetraspanin", "EC2 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000085117", "synonym": "IA4, KAI1, R2, ST6, TSPAN27", "ortholog_mouse": "Cd82", "ortholog_c_elegans": "tsp-5, tsp-8", "ortholog_xenopus": "cd82", "ortholog_zebrafish": "cd82a, cd82b", "ortholog_drosophila": "Tsp66E", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.234, "sd_percent_ciliated": 0.234, "z_score": 0.234, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0153, "sd_percent_ciliated": 1.0153, "z_score": 1.0153, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CD9", "ensembl_id": "ENSG00000010278", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "CD9 molecule [Source:HGNC Symbol,Acc:HGNC:1709]", "omim_id": "143030", "functional_summary": "The extracellular vesicle (EV) marker TSP-6(an ortholog of mammalian CD9) localizes to the cilia region(34533135). The cells of the MCL on the IL side consisted of cluster of differentiation 9 (CD9)-positive stem/progenitor cells with or without motile cilia(35316373).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "34533135 , 35316373", "complex_components": ["CD9", "ITGA2B", "ITGB3", "ITGA7", "ITGB1", "ITGA6", "ITGB4", "CD47", "GP1BA", "CD38", "HLA-DRA", "HLA-DRB1"], "pfam_ids": "PF00335", "domain_descriptions": ["Tetraspanin", "animals", "Tetraspanin", "EC2 domain superfamily", "Tetraspanin/Peripherin", "Tetraspanin", "conserved site", "CD9", "extracellular domain"], "string_link": "https://string-db.org/network/9606/ENSG00000010278", "synonym": "BA2, MIC3, MRP-1, P24, TSPAN29", "ortholog_mouse": "Cd9", "ortholog_c_elegans": "tsp-6", "ortholog_xenopus": "cd9", "ortholog_zebrafish": "cd9a, cd9b", "ortholog_drosophila": "Tsp96F", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.0076, "sd_percent_ciliated": 0.0651, "z_score": -0.8483, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.12, "sd_percent_ciliated": 2.12, "z_score": 2.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2096, "sd_percent_ciliated": -1.2096, "z_score": -1.2096, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDC14A", "ensembl_id": "ENSG00000079335", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "cell division cycle 14A [Source:HGNC Symbol,Acc:HGNC:1718]", "omim_id": "603504", "functional_summary": "CDC14A activity in human and mouse is needed for the formation of the kinocilia in the organ of corti. Proline鈥", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "30467237, 23027426 ,30467237", "complex_components": {}, "pfam_ids": ["PF22785", "PF14671"], "domain_descriptions": ["Tyrosine-specific protein phosphatases domain", "Protein-tyrosine phosphatase", "catalytic", "Protein-tyrosine phosphatase", "active site", "Dual specificity protein phosphatase domain", "Protein-tyrosine phosphatase-like", "Dual specificity/tyrosine protein phosphatase", "N-terminal", "Dual-specificity phosphatase CDC14", "C-terminal", "Protein Tyrosine Phosphatase"], "string_link": "https://string-db.org/network/9606/ENSG00000079335", "synonym": "CDC14, CDC14A1, CDC14A2, DFNB105, DFNB32", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cdc14a", "ortholog_c_elegans": "cdc-14", "ortholog_xenopus": "cdc14a", "ortholog_zebrafish": "cdc14aa, cdc14ab", "ortholog_drosophila": "Cdc14", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.9701, "z_score": -1.7039, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.0718, "z_score": -2.4155, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 5.9409 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.927, "z_score": 0.927, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.927 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.5814, "z_score": -10.5814, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -10.5814 } ] }, { "gene": "CDC20", "ensembl_id": "ENSG00000117399", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "cell division cycle 20 [Source:HGNC Symbol,Acc:HGNC:1723]", "omim_id": "603618", "functional_summary": "Neuro l differentiation, ciliary formation or D damage repair. Studies suggest that is involved in neuro l connectivity and plasticity (25850036). Potential activity in quiescent and differentiated cells, is recruited to the basal body of the primary cilium, where in complex with APC it negatively regulates ciliary length, by destabilizing axonemal. Inhibition of APC-Cdc20 activity increases the ciliary length, while overexpression of Cdc20 suppresses cilium formation. (25139956).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "25850036, 25139956", "complex_components": ["BUB1B", "BUB3", "CDC20", "MAD2L1", "CDC27", "CDH1"], "pfam_ids": ["PF24807", "PF00400"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD repeat Cdc20/Fizzy", "WD40-repeat-containing domain superfamily", "CDC20/Fizzy", "WD40 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000117399", "synonym": "CDC20A, P55CDC", "ortholog_mouse": "Cdc20", "ortholog_c_elegans": "fzy-1", "ortholog_xenopus": "cdc20", "ortholog_zebrafish": "cdc20", "ortholog_drosophila": "fzy", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.8916, "sd_percent_ciliated": 4.7066, "z_score": 0.3492 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.92, "sd_percent_ciliated": 4.92, "z_score": 4.92 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.8061, "sd_percent_ciliated": -7.8061, "z_score": -7.8061 } ] }, { "gene": "CDC20B", "ensembl_id": "ENSG00000164287", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cell division cycle 20B [Source:HGNC Symbol,Acc:HGNC:24222]", "omim_id": "620335", "functional_summary": "Specifically expressed in maturing multiciliated cells during the phase of centriole multiplication, it has been established the corresponding CDC20B protein as an essential regulator of centriole-deuterosome disengagement. Plays an essential and conserved role of in vertebrate multiciliogenesis. Function of promoting deuterosome assembly and/or activity, may contribute to activation of Separase. Involved in the production of centrioles (30405130).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.040513E7", "complex_components": {}, "pfam_ids": ["PF24807", "PF00400", "PF12894"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD repeat Cdc20/Fizzy", "WD40-repeat-containing domain superfamily", "CDC20/Fizzy", "WD40 domain", "Anaphase-promoting complex subunit 4-like", "WD40 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000164287", "synonym": "FLJ37927", "ortholog_mouse": "Cdc20b", "ortholog_c_elegans": "fzy-1", "ortholog_xenopus": "cdc20b", "ortholog_drosophila": "fzy", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CDC42", "ensembl_id": "ENSG00000070831", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia number", "description": "cell division cycle 42 [Source:HGNC Symbol,Acc:HGNC:1736]", "omim_id": "116952", "functional_summary": "The primary cilium is linked to OPN sig ling pathway and actin cytoskeleton pathway via CD44 and Cdc42(32339903). The CDC42 gene cooperates with bbsome proteins for the lenght of the cilia (.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "32339903, 39587330, 29945904", "complex_components": ["CDC42", "PARD3", "PARD6A", "PRKCZ", "PRKCI", "RAC1", "APC", "IQGAP1", "PARD6B", "BCAR1", "CRK", "TNK2", "FCHSD2", "WASL", "ABCA1"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTPase Rho", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Cdc42"], "string_link": "https://string-db.org/network/9606/ENSG00000070831", "synonym": "CDC42HS, G25K", "ortholog_mouse": "Cdc42", "ortholog_c_elegans": "cdc-42", "ortholog_xenopus": "cdc42", "ortholog_zebrafish": "cdc42", "ortholog_drosophila": "Cdc42", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.1786, "sd_percent_ciliated": 3.7881, "z_score": 0.2628 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.87, "sd_percent_ciliated": 2.87, "z_score": 2.87 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.386, "sd_percent_ciliated": -5.386, "z_score": -5.386 } ] }, { "gene": "CDC42EP5", "ensembl_id": "ENSG00000273633", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "CDC42 effector protein 5 [Source:HGNC Symbol,Acc:HGNC:17408]", "omim_id": "609171", "functional_summary": "CDC42EP5 has localized in primary cilia. The gene is also known as Borg3 (40502696)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273, 40502696", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000273633", "synonym": "BORG3, CEP5", "ortholog_mouse": "Cdc42ep5", "ortholog_xenopus": "XB5748694", "ortholog_zebrafish": "cdc42ep5", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.42, "sd_percent_ciliated": 3.6031, "z_score": 0.0498, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 22.6, "sd_percent_ciliated": 22.6, "z_score": 22.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2976, "sd_percent_ciliated": -3.2976, "z_score": -3.2976, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDHR1", "ensembl_id": "ENSG00000148600", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia(?)", "percent_ciliated_cells_effects": "Not Reported", "description": "cadherin related family member 1 [Source:HGNC Symbol,Acc:HGNC:14550]", "omim_id": "609502", "functional_summary": "siah1 and cdhr1a co-expression as well as protein localization in the reti l outer nuclear layer (ONL), and more precisely in the connecting cilium of rods and cones between 3–5 days post fertilization (dpf)(33330480).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "33330480, 20087419, 20805371, 38504520 ,20805371", "complex_components": {}, "pfam_ids": "PF00028", "domain_descriptions": ["Cadherin-like", "Cadherin-like superfamily", "Cadherin conserved site", "Cadherin", "Cadherin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000148600", "synonym": "CORD15, KIAA1775, PCDH21, RP65", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cdhr1", "ortholog_xenopus": "cdhr1", "ortholog_zebrafish": "cdhr1a", "ortholog_drosophila": "Cad74A, Cad86C", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.646, "sd_percent_ciliated": -4.646, "z_score": -4.646, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDHR3", "ensembl_id": "ENSG00000128536", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cadherin related family member 3 [Source:HGNC Symbol,Acc:HGNC:26308]", "omim_id": "615610", "functional_summary": "CDHR3 expression in cilia of bronchial epithelial cells, CDHR3 functions in the airways and link CDHR3 asthma-risk genotype to increased RV-C binding and replication(30916989). The localization of CDHR3 near the basal bodies in ciliating and mature ciliated cells raised the possibility of its involvement in ciliogenesis (30930175).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions", "reference": "30916989, 30930170", "complex_components": {}, "pfam_ids": "PF00028", "domain_descriptions": ["Cadherin-like", "Cadherin-like superfamily", "Cadherin", "Cadherin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000128536", "synonym": "CDH28, FLJ23834, FLJ44366", "ortholog_mouse": "Cdhr3", "ortholog_xenopus": "cdhr3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.57, "sd_percent_ciliated": 0.57, "z_score": 0.57, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.269, "sd_percent_ciliated": -0.269, "z_score": -0.269, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK1", "ensembl_id": "ENSG00000170312", "overexpression_effects": "Not Reported", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase 1 [Source:HGNC Symbol,Acc:HGNC:1722]", "omim_id": "116940", "functional_summary": "Cdk1 phosphorylates Sas-4 to initiate Polo/Plk1 recruitment to daughter basal bodys (27326932) and localized to flagella (25613900). Loss of MCM7 gene cause supernumerary cilia(PMID: 37771269).", "localization": "flagella, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Cardiac & muscle development, Transcription regulation", "reference": "27326932 ,25613900 , 37771269 ,28982797", "complex_components": ["CCNB1", "CDK1", "RALBP1", "CCNB2", "CCND1", "CDKN1A", "PCNA", "PARP1", "POLA1", "POLA2", "POLD1", "POLD2", "POLD3", "POLD4", "POLE", "POLE2", "POLE3", "POLE4", "RFC1", "RFC2", "RPA1", "RPA2", "RPA3", "TOP1", "GADD45A", "GADD45B", "GADD45G", "CCNF", "PTCH1", "CCNA2", "ESPL1", "TP53", "DNMT3A"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000170312", "synonym": "CDC2, CDC28A", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cdk1", "ortholog_c_elegans": "cdk-1", "ortholog_xenopus": "cdk1", "ortholog_zebrafish": "cdk1", "ortholog_drosophila": "Cdk1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.7, "sd_percent_ciliated": 8.7, "z_score": 8.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.202, "sd_percent_ciliated": -4.202, "z_score": -4.202, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK10", "ensembl_id": "ENSG00000185324", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia number", "description": "cyclin dependent kinase 10 [Source:HGNC Symbol,Acc:HGNC:1770]", "omim_id": "603464", "functional_summary": "Interacts with Cyclin M (CycM), encoded by FAM58A to form an active protein ki se. CDK10/CycM is a key repressor of ciliogenesis through the regulation of RhoA and modulation of actin dy mics (27104747). Important for normal regulation of ciliogenesis (29130579). Knocking down CDK10 or CycM resulted in significant increase in the number of ciliated cells, abnormally long cilia and promotion of the maintenance of primary cilia upon cell cycle re-entry (29130579)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "27104747, 29130579", "complex_components": ["CCNQ", "CDK10"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Cyclin-dependent kinase 10", "catalytic domain", "Cyclin-dependent kinase", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000185324", "synonym": "PISSLRE", "ortholog_mouse": "Cdk10", "ortholog_xenopus": "cdk10", "ortholog_zebrafish": "cdk10", "ortholog_drosophila": "Cdc2rk", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.2736, "sd_percent_ciliated": 1.2175, "z_score": 0.1532, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.81, "sd_percent_ciliated": 1.81, "z_score": 1.81, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6861, "sd_percent_ciliated": -3.6861, "z_score": -3.6861, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK18", "ensembl_id": "ENSG00000117266", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase 18 [Source:HGNC Symbol,Acc:HGNC:8751]", "omim_id": "169190", "functional_summary": "CDK18 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000117266", "synonym": "PCTAIRE3, PCTK3", "ortholog_mouse": "Cdk18", "ortholog_c_elegans": "pct-1", "ortholog_xenopus": "cdk18", "ortholog_zebrafish": "cdk18", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.89, "sd_percent_ciliated": 3.89, "z_score": 3.89, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.6953, "sd_percent_ciliated": -7.6953, "z_score": -7.6953, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK2", "ensembl_id": "ENSG00000123374", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase 2 [Source:HGNC Symbol,Acc:HGNC:1771]", "omim_id": "116953", "functional_summary": "Downstream of MCC fate acquisition, Cdk2 is required to initiate and maintain the MCC gene expression program during ciliogenesis. Consistently, MCCs driven to differentiate in the absence of Cdk2 activity fail to undergo ciliogenesis (30152757). CDK2 localized to basal body (25613900)", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "30152757 ,25613900, 27053712", "complex_components": ["CCND1", "CDK2", "CDKN1A", "PCNA", "CDKN1B", "FGF2", "CCNA2", "POLA1", "POLA2", "RFC1", "RFC2", "RFC3", "RFC4", "RFC5", "LIG1", "PARP1", "POLD1", "POLD2", "POLD3", "POLD4", "POLE", "POLE2", "POLE3", "POLE4", "RPA1", "RPA2", "RPA3", "TOP1", "CCNE1", "CKS1B", "CUL1", "RBX1", "SKP1", "SKP2", "CCNA1", "E2F1", "TFDP1", "CDC25C"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000123374", "ortholog_mouse": "Cdk2", "ortholog_c_elegans": "C36B7.2", "ortholog_xenopus": "cdk2", "ortholog_zebrafish": "cdk2", "ortholog_drosophila": "Cdk2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.4139, "sd_percent_ciliated": 21.1293, "z_score": 1.0183, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.47, "sd_percent_ciliated": 4.47, "z_score": 4.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9391, "sd_percent_ciliated": 0.9391, "z_score": 0.9391, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK20", "ensembl_id": "ENSG00000156345", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase 20 [Source:HGNC Symbol,Acc:HGNC:21420]", "omim_id": "610076", "functional_summary": "Positively and negatively controls both ciliary length and the activity of the Hh pathway, regulates a broad array of processes at levels ranging from the subcellular to the organismal (28817564). Length of wild-type and Ccrk mutant cilia under steady-state (serum starved) conditions measured, although the average cilia lengths were generally similar (2.6 and 3.5 μm, for control and mutant cilia, respectively), there was a broader distribution of cilia lengths in the mutant cells than in the control cells (std. dev. of 0.78 vs. 1.9 for control and mutant cilia, respectively)(PMID: 28817564).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Protein processing & maturation, Cilia length regulation", "reference": "28817564, 20159594 ,30955935", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Cyclin-dependent kinase 20-like", "catalytic domain", "Cyclin-dependent kinase", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000156345", "synonym": "CCRK, P42, PNQALRE", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cdk20", "ortholog_c_elegans": "dyf-18", "ortholog_zebrafish": "cdk20", "ortholog_drosophila": "CG6800", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 58.4, "sd_percent_ciliated": 58.4, "z_score": 58.4, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5363, "sd_percent_ciliated": -0.5363, "z_score": -0.5363, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK5RAP2", "ensembl_id": "ENSG00000136861", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "No effect", "description": "CDK5 regulatory subunit associated protein 2 [Source:HGNC Symbol,Acc:HGNC:18672]", "omim_id": "608201", "functional_summary": "SPD-5, the functio l homologue of CDK5RAP2, is essential for embryonic mitosis and SPD-5 is the primary driver of MTOC function at the PCM and endogenous SPD-5 localized to the ciliary base (CB) of all ciliated sensory neurons(33798428)", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "33798428, 20627074 ,20627074 *", "complex_components": ["AKAP9", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "PRKACA", "PRKAR2A", "PRKAR2B"], "pfam_ids": ["PF07989", "PF23246"], "domain_descriptions": ["Centrosomin", "N-terminal motif 1", "CDK5 regulatory subunit-associated protein 2", "CDK5 regulatory subunit-associated protein 2/Myomegalin", "coiled coil"], "string_link": "https://string-db.org/network/9606/ENSG00000136861", "synonym": "C48, CEP215, FLJ10867, MCPH3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cdk5rap2", "ortholog_xenopus": "cdk5rap2", "ortholog_zebrafish": "cdk5rap2", "ortholog_drosophila": "cnn", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.9217, "sd_percent_ciliated": 3.012, "z_score": -0.4952, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.2226, "sd_percent_ciliated": 2.2226, "z_score": 2.2226, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDK6", "ensembl_id": "ENSG00000105810", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase 6 [Source:HGNC Symbol,Acc:HGNC:1777]", "omim_id": "603368", "functional_summary": "CDK6, together with its cyclin partner cyclin D3, enrich at the ciliary base in RPE-1 cells and an uncanonical CDK6 activity inhibits cilia function by suppressing axoneme polyglutamylation(PMID: 39636239). Consistent with this, knockdown of CDK4/6 with siRNA or CDK4/6 inhibition with Abe also increased cilia length (onsistent with this, knockdown of CDK4/6 with siRNA or CDK4/6 inhibition with Abe also increased cilia length (33127671)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Transcription regulation, Cilia length regulation", "reference": "39636239, 33127671", "complex_components": ["CCND1", "CDK4", "CDK6", "CCND2", "CCND3", "CDKN1A", "AR"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase 6", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000105810", "synonym": "PLSTIRE", "ortholog_mouse": "Cdk6", "ortholog_c_elegans": "cdk-4", "ortholog_xenopus": "cdk6", "ortholog_zebrafish": "cdk6", "ortholog_drosophila": "Cdk4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 52.9284, "sd_percent_ciliated": 3.7154, "z_score": 1.8075 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.42, "sd_percent_ciliated": 3.42, "z_score": 3.42 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.1901, "sd_percent_ciliated": -3.1901, "z_score": -3.1901 } ] }, { "gene": "CDK7", "ensembl_id": "ENSG00000277273", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase 7 [Source:HGNC Symbol,Acc:HGNC:1778]", "omim_id": "601955", "functional_summary": "DYF-18 is an evolutio rily conserved CDK7/CCRK/LF2p-related serine/threonine ki se that is necessary for the proper function of intraflagellar transport, a process critical for cilium biogenesis ( 21740898).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Transcription regulation", "reference": "21740898, 33127671", "complex_components": ["CCNH", "CDK7", "ERCC2", "ERCC3", "GTF2H1", "GTF2H2", "GTF2H3", "GTF2H4", "MNAT1", "GTF2H5", "CREBBP", "EP300", "POLR2A", "RBPJ", "SUPT6H", "CCNT1", "CDK8", "CDK9", "INPP5K", "MAML1", "MED1", "NOTCH1", "SUPT16H", "ESR1", "HDAC2", "MTA1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000277273", "synonym": "CAK, CAK1, CDKN7, MO15, STK1", "ortholog_mouse": "Cdk7", "ortholog_c_elegans": "cdk-7", "ortholog_xenopus": "cdk7", "ortholog_zebrafish": "cdk7", "ortholog_drosophila": "Cdk7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.155, "sd_percent_ciliated": 9.4627, "z_score": 1.1081, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3065, "sd_percent_ciliated": -0.3065, "z_score": -0.3065, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDKL1", "ensembl_id": "ENSG00000100490", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase like 1 [Source:HGNC Symbol,Acc:HGNC:1781]", "omim_id": "603441", "functional_summary": "C. elegans CDKL-1, most closely related to CDKL1.CDKL-1/CDKL5 show dosage-sensitive control of cilium length — too little = long cilia; too much = short or defective ciliogenesis(PMID: 29420175).", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "2.9420175E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase", "Mitogen-activated protein kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000100490", "synonym": "KKIALRE", "ortholog_mouse": "Cdkl1", "ortholog_c_elegans": "cdkl-1", "ortholog_xenopus": "cdkl1", "ortholog_zebrafish": "cdkl1", "ortholog_drosophila": "CG7236", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.5016, "sd_percent_ciliated": 0.3742, "z_score": -0.5461, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.872, "sd_percent_ciliated": 0.872, "z_score": 0.872, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2112, "sd_percent_ciliated": -1.2112, "z_score": -1.2112, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDKL2", "ensembl_id": "ENSG00000138769", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase like 2 [Source:HGNC Symbol,Acc:HGNC:1782]", "omim_id": "603442", "functional_summary": "C. elegans CDKL-1, most closely related to CDKL1(PMID: 29420175).", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "2.9420175E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000138769", "synonym": "KKIAMRE, P56", "ortholog_mouse": "Cdkl2", "ortholog_xenopus": "cdkl2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.6592, "sd_percent_ciliated": 0.1241, "z_score": -1.1328 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.58, "sd_percent_ciliated": 1.58, "z_score": 1.58 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.1137, "sd_percent_ciliated": 0.1137, "z_score": 0.1137 } ] }, { "gene": "CDKL3", "ensembl_id": "ENSG00000006837", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase like 3 [Source:HGNC Symbol,Acc:HGNC:15483]", "omim_id": "608459", "functional_summary": "C. elegans CDKL-1, most closely related to CDKL1(PMID: 29420175).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Transition zone", "reference": "2.9420175E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000006837", "synonym": "NKIAMRE", "ortholog_mouse": "Cdkl3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.6627, "sd_percent_ciliated": 10.2784, "z_score": -0.1631 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0287, "sd_percent_ciliated": 0.0287, "z_score": 0.0287 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.2882, "sd_percent_ciliated": -7.2882, "z_score": -7.2882 } ] }, { "gene": "CDKL4", "ensembl_id": "ENSG00000205111", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase like 4 [Source:HGNC Symbol,Acc:HGNC:19287]", "functional_summary": "C. elegans CDKL-1, most closely related to CDKL1(PMID: 29420175).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "2.9420175E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000205111", "ortholog_mouse": "Cdkl4", "ortholog_c_elegans": "cdkl-1", "ortholog_xenopus": "cdkl4", "ortholog_drosophila": "CG7236", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.2146, "sd_percent_ciliated": 1.4095, "z_score": -0.4597, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.31, "sd_percent_ciliated": 0.31, "z_score": 0.31, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4346, "sd_percent_ciliated": -3.4346, "z_score": -3.4346, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDKL5", "ensembl_id": "ENSG00000008086", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase like 5 [Source:HGNC Symbol,Acc:HGNC:11411]", "omim_id": "300203", "functional_summary": "Regulate cilium length, has a potential role in ciliogenesis, facilitates dendritic spine and excitatory sy pse formation (29420175).C. elegans CDKL-1, most closely related to CDKL1.CDKL-1/CDKL5 show dosage-sensitive control of cilium length — too little = long cilia; too much = short or defective ciliogenesis.Overexpression of CDKL5 specifically reduces the percentage of ciliated cells, indicating an effect on ciliogenesis initiation, not just length.(PMID: 29420175).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration", "reference": "2.9420175E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Cyclin-dependent kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000008086", "synonym": "CFAP247, EIEE2, STK9", "ortholog_mouse": "Cdkl5", "ortholog_xenopus": "cdkl5", "ortholog_zebrafish": "cdkl5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.2788, "sd_percent_ciliated": 9.4944, "z_score": -1.4212 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.21, "sd_percent_ciliated": 1.21, "z_score": 1.21 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.9408, "sd_percent_ciliated": -2.9408, "z_score": -2.9408 } ] }, { "gene": "CDKN1B", "ensembl_id": "ENSG00000111276", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase inhibitor 1B [Source:HGNC Symbol,Acc:HGNC:1785]", "omim_id": "600778", "functional_summary": "Also known as p27Kip1. Multifunctio l protein that plays crucial roles in cell architecture and migration by regulating rearrangements of the actin cytoskeleton and . p27Kip1 abrogation impairs one of the earliest events of ciliogenesis, docking of the Ehd1- associated preciliary vesicles to the distal appendages of the basal body (32423824)", "localization": "basal body, cilia , transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, Transcription regulation", "reference": "3.2423824E7", "complex_components": ["CCND2", "CDK4", "CDKN1B", "CDK2", "FGF2", "CCNE1", "CKS1B", "CUL1", "RBX1", "SKP1", "SKP2", "FLT3"], "pfam_ids": "PF02234", "domain_descriptions": ["Cyclin-dependent kinase inhibitor domain", "Cyclin-dependent kinase inhibitor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111276", "synonym": "KIP1, P27KIP1", "ortholog_mouse": "Cdkn1b", "ortholog_c_elegans": "cki-1, cki-2", "ortholog_xenopus": "cdkn1b", "ortholog_zebrafish": "cdkn1ba, cdkn1bb", "ortholog_drosophila": "dap", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.5361, "sd_percent_ciliated": 9.8591, "z_score": 0.4273 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.55, "sd_percent_ciliated": 2.55, "z_score": 2.55 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3431, "sd_percent_ciliated": -2.3431, "z_score": -2.3431 } ] }, { "gene": "CDKN2A", "ensembl_id": "ENSG00000147889", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cyclin dependent kinase inhibitor 2A [Source:HGNC Symbol,Acc:HGNC:1787]", "omim_id": "600160", "functional_summary": "CDKN2A has localized in cilia.", "localization": "cilia, Cytosol, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Cardiac & muscle development, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273, 37845394", "complex_components": ["CDKN2A", "HUWE1", "NPM1", "CCND2", "CDK4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000147889", "synonym": "ARF, CAI2, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4A, P19, P19ARF", "ortholog_mouse": "Cdkn2a, Cdkn2b", "ortholog_xenopus": "cdkn2b", "ortholog_zebrafish": "cdkn2a/b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.056, "sd_percent_ciliated": 7.8388, "z_score": 0.8538, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.225, "sd_percent_ciliated": 0.225, "z_score": 0.225, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5618, "sd_percent_ciliated": -0.5618, "z_score": -0.5618, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDKN2B", "ensembl_id": "ENSG00000147883", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cyclin dependent kinase inhibitor 2B [Source:HGNC Symbol,Acc:HGNC:1788]", "omim_id": "600431", "functional_summary": "MST1/2 has a noncanonical function: regulation of microtubule stability/dy mics. Loss of MST1/2 or its target(s) NDR1/2 destabilizes kinetochore-microtubule attachment during mitosis ( 20171103 , 19327996). MST1/2 binds and phosphorylates AURKA, leading to dissociation of the AURKA/HDAC6 cilia-disassembly complex, and MST1/2-SAV1 associates with the NPHP transition-zone complex, promoting ciliary localization of multiple ciliary cargoes ( 25367221). CDKN2B gene is enrolled in the Transforming growth factor beta receptor signaling pathway (GO:0007179) (41005307)", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "20171103 , 19327996 , 25367221, 41005307", "complex_components": {}, "pfam_ids": "PF12796", "domain_descriptions": ["Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "Ankyrin Repeat and Cyclin-Dependent Kinase Inhibitor"], "string_link": "https://string-db.org/network/9606/ENSG00000147883", "synonym": "CDK4I, INK4B, MTS2, P15, P15INK4B, TP15", "ortholog_mouse": "Cdkn2b", "ortholog_xenopus": "cdkn2b", "ortholog_zebrafish": "cdkn2a/b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.3478, "sd_percent_ciliated": 1.8471, "z_score": -0.0801, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0064, "sd_percent_ciliated": 0.0064, "z_score": 0.0064, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.1596, "sd_percent_ciliated": -7.1596, "z_score": -7.1596, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDON", "ensembl_id": "ENSG00000064309", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cell adhesion associated, oncogene regulated [Source:HGNC Symbol,Acc:HGNC:17104]", "omim_id": "608707", "functional_summary": "At the far periphery, ciliary margin (CM) markers Otx1 and Cdon together with Wnt3a and Fzd1 were ectopically upregulated, whereas neuroreti l progenitor markers Sox2, Notch1, and Otx2 were absent or reduced ( 30485816). CDON morphants displayed slightly shorter cilia than controls, and the number of cilia was also decreased in CDON morphants (39239564)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "30485816, 21802063, 39239564 ,21802063", "complex_components": ["CDON", "PTCH1", "BOC"], "pfam_ids": ["PF07679", "PF13927", "PF00041"], "domain_descriptions": ["Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000064309", "synonym": "CDO, CDON1, IHOG, ORCAM", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cdon", "ortholog_xenopus": "cdon", "ortholog_zebrafish": "cdon", "ortholog_drosophila": "ihog", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 26.7935, "sd_percent_ciliated": 9.7225, "z_score": -1.3589, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.068, "sd_percent_ciliated": 0.068, "z_score": 0.068, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8935, "sd_percent_ciliated": -6.8935, "z_score": -6.8935, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CDT1", "ensembl_id": "ENSG00000167513", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "chromatin licensing and DNA replication factor 1 [Source:HGNC Symbol,Acc:HGNC:24576]", "omim_id": "605525", "functional_summary": "Depletion of ORC1, ORC4, ORC6, CDT1 and CDC6 resulted in dramatically impaired cilia formation similar to ORC1-deficient patient cells ( 23516378).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "2.3516378E7", "complex_components": ["CDT1", "CUL4A", "DDB1", "RBX1", "GMNN", "MCIDAS"], "pfam_ids": ["PF08839", "PF16679"], "domain_descriptions": ["CDT1 Geminin-binding domain-like", "DNA replication factor Cdt1", "C-terminal", "Winged helix DNA-binding domain superfamily", "DNA replication factor Cdt1", "C-terminal WH domain superfamily", "DNA replication factor Cdt1"], "string_link": "https://string-db.org/network/9606/ENSG00000167513", "synonym": "DUP, RIS2", "ortholog_mouse": "Cdt1", "ortholog_c_elegans": "cdt-1", "ortholog_xenopus": "cdt1", "ortholog_zebrafish": "cdt1", "ortholog_drosophila": "dup", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.2322, "sd_percent_ciliated": 9.1552, "z_score": 0.027 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.82, "sd_percent_ciliated": 7.82, "z_score": 7.82 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.1075, "sd_percent_ciliated": -4.1075, "z_score": -4.1075 } ] }, { "gene": "CELSR1", "ensembl_id": "ENSG00000075275", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cadherin EGF LAG seven-pass G-type receptor 1 [Source:HGNC Symbol,Acc:HGNC:1850]", "omim_id": "604523", "functional_summary": "In Celsr1-deficient mice, the ciliary motion is not orchestrated along the ovary-uterus axis and the transport ability of beating cilia is impaired ( 25406397).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5406397E7", "complex_components": {}, "pfam_ids": ["PF00028", "PF23592", "PF16489", "PF02793", "PF01825", "PF00002", "PF00008", "PF02210", "PF00053"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "GPS motif", "EGF-like domain", "GPCR", "family 2", "secretin-like", "Laminin G domain", "GPCR", "family 2", "extracellular hormone receptor domain", "EGF-like calcium-binding domain", "Laminin-type EGF domain", "Cadherin-like", "Growth factor receptor cysteine-rich domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "Cadherin-like superfamily", "GPCR", "family 2-like", "7TM", "Cadherin conserved site", "GAIN domain", "N-terminal", "GPCR family 2", "extracellular hormone receptor domain superfamily", "GAIN domain superfamily", "CELSR1-3-like", "ninth cadherin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000075275", "synonym": "ADGRC1, CDHF9, FMI2, HFMI2, ME2", "ortholog_mouse": "Celsr1, Me2", "ortholog_c_elegans": "fmi-1, men-1", "ortholog_xenopus": "celsr1, me2", "ortholog_zebrafish": "celsr1a, celsr1b, me2", "ortholog_drosophila": "Men, Men-b, stan", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.1457, "sd_percent_ciliated": 2.6185, "z_score": -0.1046, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4891, "sd_percent_ciliated": -3.4891, "z_score": -3.4891, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CELSR2", "ensembl_id": "ENSG00000143126", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cadherin EGF LAG seven-pass G-type receptor 2 [Source:HGNC Symbol,Acc:HGNC:3231]", "omim_id": "604265", "functional_summary": "Has been shown to be required for ciliogenesis ( 27894351). Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus ( 29420175), Whereas i ctivation of Celsr2, Celsr3, Fzd3, and Vangl2 perturbs the organization of ependymal multicilia at the single-cell level ( 25024228). Compared to wild–type mice, the number of cilia and ciliary tufts was clearly reduced in Celsr2−/− mice (20473291)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29420175, 27894351, 25024228, 20473291", "complex_components": {}, "pfam_ids": ["PF00028", "PF00053", "PF02210", "PF23592", "PF16489", "PF00008", "PF00002", "PF01825"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "GPS motif", "EGF-like domain", "GPCR", "family 2", "secretin-like", "Laminin G domain", "GPCR", "family 2", "extracellular hormone receptor domain", "EGF-like calcium-binding domain", "Laminin-type EGF domain", "Cadherin-like", "Growth factor receptor cysteine-rich domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "Cadherin-like superfamily", "GPCR", "family 2-like", "7TM", "Cadherin conserved site", "GAIN domain", "N-terminal", "GPCR family 2", "extracellular hormone receptor domain superfamily", "GAIN domain superfamily", "CELSR1-3-like", "ninth cadherin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000143126", "synonym": "ADGRC2, CDHF10, EGFL2, FLAMINGO1, KIAA0279, MEGF3", "ortholog_mouse": "Celsr2", "ortholog_c_elegans": "fmi-1", "ortholog_xenopus": "celsr2", "ortholog_zebrafish": "celsr2", "ortholog_drosophila": "stan", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8059, "z_score": 0.4118, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 52.1029, "z_score": 1.7075, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.0479 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.535, "z_score": 0.535, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.535 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.3012, "z_score": -8.3012, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -8.3012 } ] }, { "gene": "CELSR3", "ensembl_id": "ENSG00000008300", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cadherin EGF LAG seven-pass G-type receptor 3 [Source:HGNC Symbol,Acc:HGNC:3230]", "omim_id": "604264", "functional_summary": "Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus ( 29420175), controls the function of ependymal cilia ( 29327175), Whereas i ctivation of Celsr2, Celsr3, Fzd3, and Vangl2 perturbs the organization of ependymal multicilia at the single-cell level ( 25024228).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "29420175, 29327175, 25024228 ,25024228, 20473291", "complex_components": {}, "pfam_ids": ["PF01825", "PF16489", "PF00008", "PF23592", "PF00028", "PF02793", "PF02210", "PF00053", "PF00002"], "domain_descriptions": ["GPS motif", "EGF-like domain", "GPCR", "family 2", "secretin-like", "Laminin G domain", "GPCR", "family 2", "extracellular hormone receptor domain", "EGF-like calcium-binding domain", "Laminin-type EGF domain", "Cadherin-like", "Concanavalin A-like lectin/glucanase domain superfamily", "Cadherin-like superfamily", "GPCR", "family 2-like", "7TM", "GPCR", "family 2", "secretin-like", "conserved site", "Cadherin conserved site", "GAIN domain", "N-terminal", "GPCR family 2", "extracellular hormone receptor domain superfamily", "GAIN domain superfamily", "CELSR1-3-like", "ninth cadherin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000008300", "synonym": "ADGRC3, CDHF11, EGFL1, FMI1, HFMI1, MEGF2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Celsr3", "ortholog_c_elegans": "fmi-1", "ortholog_xenopus": "celsr3", "ortholog_zebrafish": "celsr3", "ortholog_drosophila": "stan", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.5901, "sd_percent_ciliated": 6.0989, "z_score": -0.2931, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0889, "sd_percent_ciliated": 0.0889, "z_score": 0.0889, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7771, "sd_percent_ciliated": -4.7771, "z_score": -4.7771, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CENPF", "ensembl_id": "ENSG00000117724", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centromere protein F [Source:HGNC Symbol,Acc:HGNC:1857]", "omim_id": "600236", "functional_summary": "Centriolar disease gene implicated in severe human ciliopathy and MCPH-related phenotypes (25564561, 26820108, 31488893, 31953238).", "localization": "basal body,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cardiac & muscle development, Transcription regulation", "reference": "25564561, 26820108, 31488893, 31953238, 26820108, 27146114 ,26820108", "complex_components": {}, "pfam_ids": ["PF10481", "PF10473", "PF10490"], "domain_descriptions": ["Kinetochore protein Cenp-F/LEK1", "Rb protein-binding domain", "Centromere protein Cenp-F", "N-terminal", "Centromere protein Cenp-F", "leucine-rich repeat-containing domain", "Centromere protein Cenp-F"], "string_link": "https://string-db.org/network/9606/ENSG00000117724", "synonym": "HCP-1", "ciliopathy": "Stromme Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cenpf", "ortholog_xenopus": "cenpf", "ortholog_zebrafish": "cenpf, si:dkeyp-115e12.6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.471, "sd_percent_ciliated": 3.7185, "z_score": 0.0559, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.4262, "sd_percent_ciliated": 1.4262, "z_score": 1.4262, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CENPV", "ensembl_id": "ENSG00000166582", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "centromere protein V [Source:HGNC Symbol,Acc:HGNC:29920]", "omim_id": "608139", "functional_summary": "CENPV is deubiquitylated by CYLD and localizes in interphase to primary cilia where it increases the ciliary levels of acetylated 伪-tubulin(31260673).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion", "reference": "3.1260673E7", "complex_components": {}, "pfam_ids": "PF04828", "domain_descriptions": ["CENP-V/GFA domain", "Mss4-like superfamily", "Centromere protein V-like"], "string_link": "https://string-db.org/network/9606/ENSG00000166582", "synonym": "CENP-V, P30, PRR6", "ortholog_mouse": "Cenpv", "ortholog_c_elegans": "F25B4.8", "ortholog_xenopus": "cenpv", "ortholog_zebrafish": "cenpv", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.53, "sd_percent_ciliated": 4.53, "z_score": 4.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP104", "ensembl_id": "ENSG00000116198", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "centrosomal protein 104 [Source:HGNC Symbol,Acc:HGNC:24866]", "omim_id": "616690", "functional_summary": "Has an important role in regulating microtubule length in cilia by facilitating tubulin addition to ciliary and might also be involved in regulating other factors, possibly by interacting with Nek1. Cep104 is involved in the stabilization of the ciliary axoneme or in cilia formation and elongation, mutations cause ciliopathies (28017521). Regulates ciliary assembly by interacting with centriolar proteins that suppress cilia formation, detaches from these proteins at the onset of cilia formation and moves to the tip of the scent cilium (23970417).Loss of function of GFP-FAP256A Specifically shortened the distal segment (~250 nm), and overexpression of GFP-FAP256A shortened the CP region, but total length unchanged(PMID: 30217954).", "localization": "basal body,cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "31412255, 28017521, 23970417, 26477546,30217954 ,26477546", "complex_components": {}, "pfam_ids": ["PF21038", "PF21040", "PF21039"], "domain_descriptions": ["Galactose-binding-like domain superfamily", "Armadillo-like helical", "Armadillo-type fold", "TOG domain", "Centrosomal protein CEP104", "Zn finger domain", "Centrosomal protein CEP104", "N-terminal domain", "Centrosomal protein 104 kDa-like"], "string_link": "https://string-db.org/network/9606/ENSG00000116198", "synonym": "CFAP256, GLYBP, JBTS25, KIAA0562, ROC22, RP1-286D6.4", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep104", "ortholog_c_elegans": "T06D8.2", "ortholog_xenopus": "cep104", "ortholog_zebrafish": "cep104", "ortholog_drosophila": "Cep104", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 32.7, "sd_percent_ciliated": 32.7, "z_score": 32.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3374, "sd_percent_ciliated": -4.3374, "z_score": -4.3374, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP112", "ensembl_id": "ENSG00000154240", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "centrosomal protein 112 [Source:HGNC Symbol,Acc:HGNC:28514]", "omim_id": "618980", "functional_summary": "CEP112 positioned radially close to the basal body center, with a second population at the daughter centriole, and axially in the same region of other basal foot proteins (33038334).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3038334E7", "complex_components": {}, "pfam_ids": "PF14846", "domain_descriptions": ["Domain of Not Reported function DUF4485", "Centrosomal protein of 112 kDa"], "string_link": "https://string-db.org/network/9606/ENSG00000154240", "synonym": "CCDC46, MGC33887", "ortholog_mouse": "Cep112", "ortholog_xenopus": "cep112", "ortholog_zebrafish": "cep112", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.76, "sd_percent_ciliated": 0.76, "z_score": 0.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.8742, "sd_percent_ciliated": -5.8742, "z_score": -5.8742, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP120", "ensembl_id": "ENSG00000168944", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 120 [Source:HGNC Symbol,Acc:HGNC:26690]", "omim_id": "613446", "functional_summary": "Is essential for the recruitment of C2CD3 and Talpid3 to the scent centrioles, and is responsible for promoting the assembly of the centriole appendages that are needed for subsequent ciliogenesis. It is a daughter centriole- enriched protein that plays an essential role in centriole elongation (30988386). Plays a key role in the duplication and maturation of centrioles, which in principle could impact the production of a functio l basal body (29847808).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "30988386, 29847808, 27208211, 25361962, 29741480 ,27208211; 25361962", "complex_components": {}, "pfam_ids": ["PF12416", "PF00168"], "domain_descriptions": ["C2 domain", "Domain of Not Reported function DUF3668", "C2 domain superfamily", "Centrosomal protein of 120kDa-like"], "string_link": "https://string-db.org/network/9606/ENSG00000168944", "synonym": "CCDC100, FLJ36090", "ciliopathy": "Joubert Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep120", "ortholog_xenopus": "cep120", "ortholog_zebrafish": "cep120", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 29.9, "sd_percent_ciliated": 29.9, "z_score": 29.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.5776, "sd_percent_ciliated": -10.5776, "z_score": -10.5776, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP126", "ensembl_id": "ENSG00000110318", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "centrosomal protein 126 [Source:HGNC Symbol,Acc:HGNC:29264]", "omim_id": "614634", "functional_summary": "Cep126 localised to the centrosome in a microtubule-independent manner and CEP126 is a regulator of microtubule organisation at the centrosome that acts through modulation of the transport of pericentriolar satellites, and consequently, of the organisation of cell structure(24867236).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.4867236E7", "complex_components": {}, "pfam_ids": "PF15352", "domain_descriptions": "Centrosomal protein of 126kDa", "string_link": "https://string-db.org/network/9606/ENSG00000110318", "synonym": "KIAA1377", "ortholog_mouse": "Cep126", "ortholog_xenopus": "cep126", "ortholog_zebrafish": "cep126", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.13, "sd_percent_ciliated": 1.13, "z_score": 1.13, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP128", "ensembl_id": "ENSG00000100629", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "centrosomal protein 128 [Source:HGNC Symbol,Acc:HGNC:20359]", "omim_id": "620667", "functional_summary": "It encodes a subdistal appendage protein that regulates TGF-尾/bone morphogenetic protein (BMP) sig ling and RAB11 trafficking at the primary cilium. It has no major effect on centrosome structure but leads to increased ciliation frequency (29514088).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "29514088, 35296684", "complex_components": ["CEP128", "CEP170", "CNTRL", "DCTN1", "KIF2A", "NIN", "ODF2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000100629", "synonym": "C14ORF145, C14ORF61", "ortholog_mouse": "Cep128", "ortholog_xenopus": "cep128", "ortholog_zebrafish": "cep128", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.368, "sd_percent_ciliated": 0.368, "z_score": 0.368, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3805, "sd_percent_ciliated": 0.3805, "z_score": 0.3805, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP131", "ensembl_id": "ENSG00000141577", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "centrosomal protein 131 [Source:HGNC Symbol,Acc:HGNC:29511]", "omim_id": "613479", "functional_summary": "Contributor to ciliogenesis in certain tissues in the developing vertebrate embryo, involved in assembling the cilium and in determi tion of the length of the axoneme (19254375). The Atoh1- Cep131-CS integrity axis would act as a gatekeeper during GNPs鈥", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Transition zone", "reference": "19254375, 30695697, ,19254375", "complex_components": ["BBS4", "CEP131", "PCM1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141577", "synonym": "AZ1, AZI1, KIAA1118", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep131", "ortholog_xenopus": "cep131", "ortholog_zebrafish": "cep131", "ortholog_drosophila": "dila", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP135", "ensembl_id": "ENSG00000174799", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "centrosomal protein 135 [Source:HGNC Symbol,Acc:HGNC:29086]", "omim_id": "611423", "functional_summary": "CEP135/Bld10 promotes the assembly and stability of the centriolar microtubule wall. Induces the formation of protofilament-based ring-like structures, binding directly to tubulin, protofilaments, and (27477386). Required for centriole conversion to centrosome (26595382). Plays an important role in the assembly of centriole/basal bodies and stabilisation of , maintaining basal body integrity (23810536, 23115304, 22898782). Knockdown of CEP135 leads to disorganised interphase and mitotic spindle (22521416)", "localization": "basal body,cilia, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "27477386, 26595382, 23810536, 23115304, 22898782, 22521416 ,23115304", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000174799", "synonym": "CEP4, FLJ13621, KIAA0635", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep135", "ortholog_xenopus": "cep135", "ortholog_zebrafish": "cep135", "ortholog_drosophila": "Cep135", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.47, "sd_percent_ciliated": 4.47, "z_score": 4.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.8149, "sd_percent_ciliated": 0.8149, "z_score": 0.8149, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP15", "ensembl_id": "ENSG00000114405", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 15 [Source:HGNC Symbol,Acc:HGNC:25024]", "functional_summary": "NCS1 and C3ORF14 proteins localized at the distal appendage (36711481).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "3.6711481E7", "complex_components": {}, "pfam_ids": "PF15134", "domain_descriptions": "Centrosomal protein 15-like", "string_link": "https://string-db.org/network/9606/ENSG00000114405", "synonym": "C3ORF14, HT021", "ortholog_mouse": "Cep15", "ortholog_zebrafish": "si:dkey-274m17.3", "screens": {} }, { "gene": "CEP152", "ensembl_id": "ENSG00000103995", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 152 [Source:HGNC Symbol,Acc:HGNC:29298]", "omim_id": "613529", "functional_summary": "Drosophila asterless and vertebrate Cep152 Are orthologs essential for centriole duplication(18854586) . Cep152 interacts with Plk4 and is required for centriole duplication(21059850).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "18854586 , 21059850, 28385950 ,18854586", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000103995", "synonym": "KIAA0912, MCPH9, SCKL5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep152", "ortholog_xenopus": "cep152", "ortholog_zebrafish": "cep152", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.85, "sd_percent_ciliated": 5.85, "z_score": 5.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.1502, "sd_percent_ciliated": 1.1502, "z_score": 1.1502, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP162", "ensembl_id": "ENSG00000135315", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 162 [Source:HGNC Symbol,Acc:HGNC:21107]", "omim_id": "610201", "functional_summary": "Promotes and restricts transition zone (TZ) assembly before ciliogenesis. Interacts with core TZ components CEP290 and mediates their association with MTs. Loss of CEP162 arrests ciliogenesis at the stage of TZ assembly, gain of CEP162 at cilia tips promotes ectopic assembly of TZ components", "localization": "basal body,cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "23644468, 38442096 ,23644468", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000135315", "synonym": "C6ORF84, KIAA1009, QN1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep162", "ortholog_xenopus": "cep162, LOC100497718, LOC116410971", "ortholog_zebrafish": "cep162", "ortholog_drosophila": "Cep162", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13.8, "sd_percent_ciliated": 13.8, "z_score": 13.8, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP164", "ensembl_id": "ENSG00000110274", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 164 [Source:HGNC Symbol,Acc:HGNC:29182]", "omim_id": "614848", "functional_summary": "Assembly of primary cilia and promotes vesicular docking and trafficking that initiates cilia membrane biogenesis (17954613, 23253480). CEP164 promotes accumulation of GTP-Rab8 at the centrosome, providing a molecular link connecting the M-centriole to components of the machinery that initiate ciliary membrane biogenesis (23253480). Recruitment of active tau tubulin ki se 2 (TTBK2) to centrioles, leading to removal of CP110 and recruitment of intraflagellar transport proteins (24982133). Mutations in CEP164 are related to nephronophthisis and Joubert syndrome, it may may facilitate the docking of the INPP5E鈥揚DE6D complex to the centrosomal distal appendage/transition fiber (23150559). Mutations also reported in a BBS/PCD case (32367404).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Ciliary membrane", "reference": "17954613, 23253480, 24982133, 23150559, 32367404, 22863007 ,22863007; (Shamseldin, Hanan E et al.,2020)", "complex_components": ["CEP164", "TTBK2", "CCDC92", "DZIP1", "C2CD3", "CBY1", "CCP110", "CEP162", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": "PF00397", "domain_descriptions": ["WW domain", "WW domain superfamily", "Plasmodium ABRA-related", "Microtubule and Golgi organization protein"], "string_link": "https://string-db.org/network/9606/ENSG00000110274", "synonym": "KIAA1052, NPHP15", "ciliopathy": "Nephronophthisis; Primary Ciliary Dyskinesia", "ciliopathy_classification": "Primary Ciliopathies; Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep164", "ortholog_xenopus": "cep164", "ortholog_zebrafish": "cep164", "ortholog_drosophila": "Cep164", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 9.37, "sd_percent_ciliated": 9.37, "z_score": 9.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.7077, "sd_percent_ciliated": -6.7077, "z_score": -6.7077, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP170", "ensembl_id": "ENSG00000276725", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 170 [Source:HGNC Symbol,Acc:HGNC:28920]", "omim_id": "613023", "functional_summary": "Required for anchoring the subdistal appendages (SDA) complex in the centrifuge to the cytoplasmic microtubule network. It is an FHDC1 buinding protein to keep this connection (29742020). Recruits microtubule-depolymerizing factor KIF2A to disassemble cilium (31197141).", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "29742020, 31197141, 38533689", "complex_components": ["CEP128", "CEP170", "CNTRL", "DCTN1", "KIF2A", "NIN", "ODF2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276725", "synonym": "FAM68A, KAB, KIAA0470", "ortholog_mouse": "Cep170", "ortholog_xenopus": "cep170", "ortholog_zebrafish": "cep170aa, cep170ab", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.328, "sd_percent_ciliated": 0.328, "z_score": 0.328, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8451, "sd_percent_ciliated": -1.8451, "z_score": -1.8451, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP19", "ensembl_id": "ENSG00000174007", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "No effect", "description": "centrosomal protein 19 [Source:HGNC Symbol,Acc:HGNC:28209]", "omim_id": "615586", "functional_summary": "Recruitment of ciliary vesicles to the centrioles during early ciliogenesis, which suggest it is a regulator for membrane trafficking pathways . CEP19 recruits and associates with RABL2 to the basal body, promoting cilia assembly via its interactions with the FT-B complex (28659385). CEP19-RABL2B complex plays a critical role as a regulator to initiate intraflagellar transport (28625565, 28428259).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "28659385, 28625565, 28428259, 24268657 ,24268657", "complex_components": ["CEP19", "CEP350", "CEP43", "RABL2B"], "pfam_ids": "PF14933", "domain_descriptions": "Centrosomal protein of 19kDa", "string_link": "https://string-db.org/network/9606/ENSG00000174007", "synonym": "C3ORF34, MGC14126", "ciliopathy": "Morbid Obesity and Spermatogenic Failure", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep19", "ortholog_xenopus": "cep19", "ortholog_zebrafish": "cep19", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 52.7, "sd_percent_ciliated": 52.7, "z_score": 52.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2808, "sd_percent_ciliated": -1.2808, "z_score": -1.2808, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP192", "ensembl_id": "ENSG00000101639", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "No effect", "description": "centrosomal protein 192 [Source:HGNC Symbol,Acc:HGNC:25515]", "omim_id": "616426", "functional_summary": "Plk4 clearly colocalized with Cep192 or Cep152, albeit with only a small fraction of their sig ls . Cep192 and Cep152 competitively interacted with the cryptic polo box of Plk4 through their homologous N-termi l sequences containing acidic-伪-helix and N/Q-rich motifs(24277814).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "24277814, 40020058 ,23932902", "complex_components": {}, "pfam_ids": ["PF22060", "PF22065", "PF22066", "PF22074", "PF22076", "PF22067", "PF22064", "PF22073"], "domain_descriptions": ["Centrosomal protein Spd-2/CEP192", "Cep192-like", "domain 1", "Immunoglobulin-like fold", "Cep192-like", "domain 2", "Cep192-like", "domain 7", "Cep192-like", "domain 8", "Cep192-like", "domain 3", "Cep192/Spd-2-like domain", "Cep192-like", "domain 5", "Cep192-like", "domain 6"], "string_link": "https://string-db.org/network/9606/ENSG00000101639", "synonym": "FLJ10352, KIAA1569, PPP1R62", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep192", "ortholog_xenopus": "cep192", "ortholog_zebrafish": "cep192", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.8024, "sd_percent_ciliated": 6.3796, "z_score": -0.6308 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.3, "sd_percent_ciliated": 11.3, "z_score": 11.3 } ] }, { "gene": "CEP20", "ensembl_id": "ENSG00000276914", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 20 [Source:HGNC Symbol,Acc:HGNC:26435]", "omim_id": "617149", "functional_summary": "Regulation of integrity of the centriole distal end and membrane anchoring. Complex with OFD1 to initiate ciliogenesis and control cilia length (26643951). Involved in cilia formation and regulating the interaction of PCM1 satellites with and motors (20551181). Regulates the assembly and maintains the stability and dy mics of . It may inhibit tubulin assembly by sequestering soluble tubulin (28694353).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cilia length regulation", "reference": "19011630, 30881373,23822649, 33686659", "complex_components": ["CEP20", "KIAA0753", "OFD1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276914", "synonym": "C16ORF63, DKFZP686N1651, FLJ31153, FOPNL, FOR20, PHSECRG2", "ortholog_mouse": "Cep20", "ortholog_xenopus": "cep20", "ortholog_zebrafish": "cep20", "screens": {} }, { "gene": "CEP250", "ensembl_id": "ENSG00000126001", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 250 [Source:HGNC Symbol,Acc:HGNC:1859]", "omim_id": "609689", "functional_summary": "Interact with proteins implicated in rhodopsin trafficking (NEK2 and NINL). Rrecruitment of several proteins to centriole proximal ends, including Girdin (Girders of actin filaments) and proteins that associate with the distal region of the mother centriole (NEK2, ninein, CEP170, p150glued and KIF2A) (30421101). C- P1 anchores rootletin filaments that hold duplicated centrosomes together(28100636). Mutations are associated to Usher Syndrome and retinitis pigmentosa (28005958).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30421101, 28005958, 28100636, 30459346, 38416111, 37759551 ,27818179", "complex_components": {}, "pfam_ids": "PF15035", "domain_descriptions": ["Rootletin-like", "coiled-coil"], "string_link": "https://string-db.org/network/9606/ENSG00000126001", "synonym": "C-NAP1, CEP2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep250", "ortholog_c_elegans": "che-10, lfi-1", "ortholog_drosophila": "Root", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.9532, "sd_percent_ciliated": 7.7553, "z_score": -1.0972 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.907, "sd_percent_ciliated": 0.907, "z_score": 0.907 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0258, "sd_percent_ciliated": 0.0258, "z_score": 0.0258 } ] }, { "gene": "CEP290", "ensembl_id": "ENSG00000198707", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 290 [Source:HGNC Symbol,Acc:HGNC:29021]", "omim_id": "610142", "functional_summary": "Assembly and stabilisation of the primary cilium as well as centrosomal function (30478281, 22563985). Interacts with a centriolar satellite protein PCM-1 and is implicated in molecular pathways related to BBS4 function. CEP250 binds PCM- 1 and are involved in ciliary targeting of Rab8 required to promote ciliogenesis. Interacts with components of both dynein and kinesin motor machineries (18772192). Regulation of intracellular protein trafficking by association with microtubule-based transport protein RPGR (16632484). CEP250 plays an important role in the formation and stabilisation of the primary cilium as well as centrosomal function, stabilises the linkage of axoneme to the ciliary membrane to maintain the integrity of the ciliary diffusion barrier. CEP290 is critical for positioning the molecular components that are necessary for correct processing of Shh sig lling in the primary cilium (30478281). Next, RNA-seq analysis was performed to explore which signals and molecules are important for the formation of dilated pronephric tubule observed in the xCEP290 morphant kidney. The hallmark gene set associated with the IL-6/JAK/STAT3 signaling pathway was upregulated in xCEP290 morphant kidney, and inhibition of this signaling by JAK inhibitor ruxolitinib suppressed the dilated pronephric tubule in xCEP290 morphants. Furthermore, the expression level of transcription factor Xenopus FOSL1 (xFOSL1), whose gene expression is regulated by IL-6 signaling, was upregulated in xCEP290 morphant kidney, and overexpression of xFOSL1 induced pronephric tubular dilation. These results together revealed that abnormal activation of IL-6/JAK/STAT3/FOSL1 signal axis is responsible for dilated pronephric tubule resembling cystic lesions observed in polycystic kidney disease of JSRD patients with CEP290 gene mutations. (40570958)", "localization": "basal body ,transition zone, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "30478281, 18772192, 16632484, 30478281, 22563985, 32208788, 32619255, 16682970, 18327255, 16909394, 17564974, 17705300, 16682973, 22767577, 28973549 ,18327255; 16682970; 16909394; 17564974, 17705300; 32619255; 16682973", "complex_components": ["CCP110", "CEP290", "IQCB1", "CC2D2A", "C2CD3", "CBY1", "CEP162", "CEP164", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": "PF16574", "domain_descriptions": ["Centrosomal protein of 290kDa", "Centrosomal protein of 290kDa", "coiled-coil region"], "string_link": "https://string-db.org/network/9606/ENSG00000198707", "synonym": "3H11AG, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, RD16, SLSN6", "ciliopathy": "Bardet–Biedl Syndrome; Joubert Syndrome; Leber Congenital Amaurosis; Meckel–Gruber Syndrome; Nephronophthisis; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep290", "ortholog_c_elegans": "Ccep-290", "ortholog_xenopus": "cep290", "ortholog_zebrafish": "cep290", "ortholog_drosophila": "Cep290", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 10.2, "sd_percent_ciliated": 10.2, "z_score": 10.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.5301, "sd_percent_ciliated": -6.5301, "z_score": -6.5301, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP295", "ensembl_id": "ENSG00000166004", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 295 [Source:HGNC Symbol,Acc:HGNC:29366]", "omim_id": "617728", "functional_summary": "Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest, and the loss of CEP295 causes extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells(PMID: 38154379).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "38154379 ,25613900", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000166004", "synonym": "KIAA1731", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep295", "ortholog_xenopus": "cep295", "ortholog_zebrafish": "cep295", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 19.2, "sd_percent_ciliated": 19.2, "z_score": 19.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP350", "ensembl_id": "ENSG00000135837", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 350 [Source:HGNC Symbol,Acc:HGNC:24238]", "omim_id": "617870", "functional_summary": "Also calles CAP350. Facilitates the localization of CEP19 to the centriole (28659385). CEP250 is necessary for recruitment of FOP and provides a docking site for it at the centrosome. Both CEP250 and FOP form a complex and are required for anchoring to the centrosome (16314388). CEP350-FOP complex promotes recruitment of both the CEP19-RABL2B complex and TTBK2 to the mother centriole (28625565). Centriole growth is regulated by CAP350, which is also required early during the procentriole assembly process when the first microtubule is polymerised (19052644)", "localization": "basal body, Centrosome, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "28659385, 16314388, 28625565, 19052644", "complex_components": ["CEP19", "CEP350", "CEP43", "RABL2B"], "pfam_ids": ["PF01302", "PF14309"], "domain_descriptions": ["CAP Gly-rich domain", "Domain of Not Reported function DUF4378", "Centrosome-associated protein 350/Coiled-coil domain-containing protein 187", "CAP Gly-rich domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000135837", "synonym": "CAP350, KIAA0480", "ortholog_mouse": "Cep350", "ortholog_xenopus": "cep350", "ortholog_zebrafish": "cep350", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.887, "sd_percent_ciliated": 0.887, "z_score": 0.887, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP41", "ensembl_id": "ENSG00000106477", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 41 [Source:HGNC Symbol,Acc:HGNC:12370]", "omim_id": "610523", "functional_summary": "Regulation of tubulin glutamyl posttranslatio l modifications by mediating ciliary transport of TTLL6 between the basal body and cilium, therefore, it is also required for localising TTLL6 to the cilium. CEP41 is also involved in ciliary structural formation and motility through glutamylation and its loss of CEP41 has been identified as a cause of Joubert syndrome (22246503). CEP41 regulates cilia disassembly and angiogenesis through AURKA activation by modulating axonemal tubulin glutamylation (31885126)", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Cell migration & adhesion", "reference": "22246503, 31885126, 22246503 ,22246503", "complex_components": {}, "pfam_ids": "PF00581", "domain_descriptions": ["Rhodanese-like domain", "Rhodanese-like domain superfamily", "Centrosomal protein 41"], "string_link": "https://string-db.org/network/9606/ENSG00000106477", "synonym": "DKFZP762H1311, FLJ22445, JBTS15, TSGA14", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep41", "ortholog_c_elegans": "ceph-41", "ortholog_xenopus": "cep41", "ortholog_zebrafish": "cep41", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.56, "sd_percent_ciliated": 4.56, "z_score": 4.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7939, "sd_percent_ciliated": -2.7939, "z_score": -2.7939, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP43", "ensembl_id": "ENSG00000213066", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 43 [Source:HGNC Symbol,Acc:HGNC:17012]", "omim_id": "605392", "functional_summary": "CEP43 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,33304902", "complex_components": ["CEP19", "CEP350", "CEP43", "RABL2B"], "pfam_ids": "PF09398", "domain_descriptions": ["LIS1 homology motif", "FGFR1 oncogene partner (FOP)", "N-terminal dimerisation domain"], "string_link": "https://string-db.org/network/9606/ENSG00000213066", "synonym": "FGFR1OP, FOP", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep43", "ortholog_xenopus": "cep43", "ortholog_zebrafish": "cep43", "screens": {} }, { "gene": "CEP44", "ensembl_id": "ENSG00000164118", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 44 [Source:HGNC Symbol,Acc:HGNC:29356]", "omim_id": "620217", "functional_summary": "CEP44 has localized in cilia.", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15007", "domain_descriptions": ["Centrosomal CEP44 domain", "Centrosomal protein of 44kDa"], "string_link": "https://string-db.org/network/9606/ENSG00000164118", "synonym": "KIAA1712", "ortholog_mouse": "Cep44", "ortholog_xenopus": "cep44", "ortholog_zebrafish": "cep44", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 37.3, "sd_percent_ciliated": 37.3, "z_score": 37.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3659, "sd_percent_ciliated": -2.3659, "z_score": -2.3659, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP55", "ensembl_id": "ENSG00000138180", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia number", "description": "centrosomal protein 55 [Source:HGNC Symbol,Acc:HGNC:1161]", "omim_id": "610000", "functional_summary": "CEP55 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273, 28264986, 28295209, 33475699 ,28295209; 28264986; 33475699", "complex_components": ["CEP55", "PPP1R13L"], "pfam_ids": "PF12180", "domain_descriptions": ["TSG101 and ALIX binding domain of CEP55", "Centrosomal protein of 55kDa"], "string_link": "https://string-db.org/network/9606/ENSG00000138180", "synonym": "C10ORF3, CT111, FLJ10540", "ciliopathy": "Meckel–Gruber Syndrome; Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep55", "ortholog_xenopus": "cep55", "ortholog_zebrafish": "cep55l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.68, "sd_percent_ciliated": 3.68, "z_score": 3.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4067, "sd_percent_ciliated": 0.4067, "z_score": 0.4067, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP63", "ensembl_id": "ENSG00000182923", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 63 [Source:HGNC Symbol,Acc:HGNC:25815]", "omim_id": "614724", "functional_summary": "The Cep63 co-localized with Cep152 and associated laterally with scent centrioles(24240477).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "2.4240477E7", "complex_components": {}, "pfam_ids": "PF17045", "domain_descriptions": ["Centrosomal protein Cep63/Deup1", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000182923", "synonym": "FLJ13386", "ortholog_mouse": "Cep63", "ortholog_xenopus": "cep63", "ortholog_zebrafish": "cep63", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.727, "sd_percent_ciliated": 0.727, "z_score": 0.727, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5065, "sd_percent_ciliated": -0.5065, "z_score": -0.5065, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP68", "ensembl_id": "ENSG00000011523", "description": "centrosomal protein 68 [Source:HGNC Symbol,Acc:HGNC:29076]", "omim_id": "616889", "functional_summary": "Connection of the two centrosomes of a cell during interphase, required for cilia and mitotic spingle formation. Rootletin binds CEP68 modulating the thickness of rootletin filaments and promoting rootletin filament formation. Rootletin and CEP68 rings are the anchoring point of filaments that radiate into the cytoplasm (29463719). CEP68, C- P1 and Rootletin, cooperate in centrosome cohesion (18042621). Interacts with CEP215 to retain it on the peripheral pericentriolar material, inhibiting centriole separation following disengagement (25503564)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "29463719, 18042621, 25503564.", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000011523", "synonym": "KIAA0582", "ortholog_mouse": "Cep68", "ortholog_xenopus": "cep68", "ortholog_zebrafish": "cep68", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.169, "sd_percent_ciliated": 0.169, "z_score": 0.169, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.5388, "sd_percent_ciliated": -4.5388, "z_score": -4.5388, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP70", "ensembl_id": "ENSG00000114107", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 70 [Source:HGNC Symbol,Acc:HGNC:29972]", "omim_id": "614310", "functional_summary": "The ciliary function of CYLD is partially attributed to its deconjugation of the polyubiquitin chain from centrosomal protein of 70 kDa (Cep70), a requirement for Cep70 to interact with 纬-tubulin and localize at the centrosome(25342559).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "25342559 ,19254375", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000114107", "synonym": "BITE, FLJ13036", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep70", "ortholog_xenopus": "cep70", "ortholog_zebrafish": "cep70", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.79, "sd_percent_ciliated": 1.79, "z_score": 1.79, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6289, "sd_percent_ciliated": -5.6289, "z_score": -5.6289, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP72", "ensembl_id": "ENSG00000112877", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 72 [Source:HGNC Symbol,Acc:HGNC:25547]", "omim_id": "616475", "functional_summary": "Regulation of the centrosomal localisation of γ-tubulin complex components, CG- P, and Kiz. Cep72 provides centrosomal microtubule-nucleation activity and has critical roles in spindle-pole formation, whichis needed for proper tension generation between sister chromatids during mitosis (19536135). Recruitment of Cep290 to centriolar satellites by interaction with PCM1. Regulates ciliary recruitment and relocalisation of BBS4 from centriolar satellites to primary cilia during ciliogenesis, which affects assembly and recruitment of the BBSome (22767577).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "19536135, 22767577 ,22767577, 32402286", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000112877", "synonym": "FLJ10565, KIAA1519", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep72", "ortholog_zebrafish": "cep72", "screens": {} }, { "gene": "CEP76", "ensembl_id": "ENSG00000101624", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 76 [Source:HGNC Symbol,Acc:HGNC:25727]", "omim_id": "620791", "functional_summary": "The eukaryotic ciliary/centriolar TGLs are included both catalytically active (mainly from the CCDC135 clade) and i ctive versions (mostly from the CEP76 and CC2D2A/MKS6 clades) key ciliary/centrosomal proteins(22983010).", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "2.298301E7", "complex_components": {}, "pfam_ids": ["PF24654", "PF15627", "PF24656", "PF24652"], "domain_descriptions": ["CEP76", "C2 domain", "Papain-like cysteine peptidase superfamily", "Centrosomal protein of 76 kDa", "Centrosomal protein of 76 kDa", "C-terminal", "CEP76", "N-terminal", "CEP76/DRC7", "peptidase-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000101624", "synonym": "C18ORF9, FLJ12542, HST1705", "ortholog_mouse": "Cep76", "ortholog_xenopus": "cep76", "ortholog_zebrafish": "cep76", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 32.7, "sd_percent_ciliated": 32.7, "z_score": 32.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2561, "sd_percent_ciliated": -4.2561, "z_score": -4.2561, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP78", "ensembl_id": "ENSG00000148019", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 78 [Source:HGNC Symbol,Acc:HGNC:25740]", "omim_id": "617110", "functional_summary": "Centrosome overduplication by interaction with the N- termi l catalytic domain of Plk4 (27246242). Regulation of centrosome homeostasis by inhibiting the fi l step of the enzymatic reaction catalyzed by EDD鈥", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "27246242, 27588451, 28242748, 33968938, 34259627 ,33968938; 34259627", "complex_components": ["CEP78", "DCAF1", "DYRK2", "UBR5"], "pfam_ids": "PF13516", "domain_descriptions": ["Leucine-rich repeat", "Centrosomal protein of 78kDa", "Leucine-rich repeat domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000148019", "synonym": "C9ORF81, FLJ12643", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep78", "ortholog_xenopus": "cep78", "ortholog_zebrafish": "cep78", "ortholog_drosophila": "CG7886", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.91, "sd_percent_ciliated": 8.91, "z_score": 8.91, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5907, "sd_percent_ciliated": -0.5907, "z_score": -0.5907, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP83", "ensembl_id": "ENSG00000173588", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrosomal protein 83 [Source:HGNC Symbol,Acc:HGNC:17966]", "omim_id": "615847", "functional_summary": "Recruitment of distal appendages proteins like SCLT1 and CEP89 (23348840). CEP83 phosphorylation mediated by TTBK2, regulates docking of membrane vesicles to mother centrioles, promoting CP110 removal and cilia initiation. Mutation have been associated with infantile nephronophthisis (31455668).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "23348840, 31455668, 24882706, 33938610, 36222666 ,24882706; 33938610, 41073425", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173588", "synonym": "CCDC41, NPHP18, NY-REN-58", "ciliopathy": "Nephronophthisis; Retinal Dystrophy, Oro-Facial-Digital Syndrome (OFDS), Joubert syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep83", "ortholog_xenopus": "cep83", "ortholog_zebrafish": "cep83", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 58.7, "sd_percent_ciliated": 58.7, "z_score": 58.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP85", "ensembl_id": "ENSG00000130695", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 85 [Source:HGNC Symbol,Acc:HGNC:25309]", "omim_id": "618898", "functional_summary": "Cep85 is a bo fide Nek2A-binding partner that surrounds the proximal ends of centrioles where it cooperates with PP1纬 (also known as PPP1CC) to antagonize Nek2A activity in order to maintain the centrosome integrity in interphase in mammalian cells (26220856).", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.6220856E7", "complex_components": {}, "pfam_ids": "PF24555", "domain_descriptions": "Cep85/Cep85L", "string_link": "https://string-db.org/network/9606/ENSG00000130695", "synonym": "CCDC21, DKFZP434L0117", "ortholog_mouse": "Cep85", "ortholog_xenopus": "cep85", "ortholog_zebrafish": "cep85", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.99, "sd_percent_ciliated": 1.99, "z_score": 1.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2943, "sd_percent_ciliated": -2.2943, "z_score": -2.2943, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP85L", "ensembl_id": "ENSG00000111860", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 85 like [Source:HGNC Symbol,Acc:HGNC:21638]", "omim_id": "618865", "functional_summary": "C6ORF204 localized to centrosome().", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly", "reference": "2.1399614E7", "complex_components": {}, "pfam_ids": "PF24555", "domain_descriptions": "Cep85/Cep85L", "string_link": "https://string-db.org/network/9606/ENSG00000111860", "synonym": "BA57K17.2, C6ORF204, NY-BR-15", "ortholog_mouse": "Cep85l", "ortholog_xenopus": "cep85l", "ortholog_zebrafish": "cep85l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CEP89", "ensembl_id": "ENSG00000121289", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "centrosomal protein 89 [Source:HGNC Symbol,Acc:HGNC:25907]", "omim_id": "615470", "functional_summary": "Also calles CEP13 and CCDC123. Assembly of primary cilium and membrane docking (23348840). It interacts with the centriolar satellite proteins PCM-1 and OFD1 for cilia formation, and with Cep290 for the recruitment of membranes to the centrosome. CEP123 is required for the formation of a ciliary vesicle at the distal end of the mother centriole during primary ciliogenesis (23789104)", "localization": "basal body,cilia, Centrosome, Cytosol, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "23348840, 23789104, 39696441 ,23789104", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000121289", "synonym": "CCDC123, FLJ14640", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep89", "ortholog_xenopus": "cep89", "ortholog_zebrafish": "cep89", "ortholog_drosophila": "Cep89", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.494, "sd_percent_ciliated": 0.494, "z_score": 0.494, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7162, "sd_percent_ciliated": -1.7162, "z_score": -1.7162, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP95", "ensembl_id": "ENSG00000258890", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrosomal protein 95 [Source:HGNC Symbol,Acc:HGNC:25141]", "functional_summary": "CCDC45 localized to centrosome().", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly", "reference": "2.1399614E7", "complex_components": {}, "pfam_ids": "PF19016", "domain_descriptions": ["Centrosomal protein of 95kDa", "Domain of Not Reported function DUF5745", "CH domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000258890", "synonym": "CCDC45, DKFZP667E1824", "ortholog_mouse": "Cep95", "ortholog_xenopus": "cep95", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.33, "sd_percent_ciliated": 6.33, "z_score": 6.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4975, "sd_percent_ciliated": -1.4975, "z_score": -1.4975, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CEP97", "ensembl_id": "ENSG00000182504", "overexpression_effects": "Not reported", "lof_effects": "Short cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "centrosomal protein 97 [Source:HGNC Symbol,Acc:HGNC:26244]", "omim_id": "615864", "functional_summary": "Recruitment and stabilisation of CP110 to centrosomes. Both CP110 and CEP97 complexes regulate basal body function, centrosome functions and inhibit cilia assembly (17719545). Loss of CEP97 causes premature cilia formation or abnormal centriole elongation (30375385). CEP97 ubiquitylation and degradation play a key role in the removal of the CEP97–CP110 complex from the mother centriole for initiating ciliary axoneme extension (30404837).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "17719545, 30375385, 30404837. ,17719545", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": "PF14580", "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "Ciliary and flagellar integrity-associated protein", "U2 small nuclear ribonucleoprotein A'"], "string_link": "https://string-db.org/network/9606/ENSG00000182504", "synonym": "FLJ23047, LRRIQ2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cep97", "ortholog_c_elegans": "ccep-97", "ortholog_xenopus": "cep97", "ortholog_zebrafish": "cep97", "ortholog_drosophila": "Cep97", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 14.5, "sd_percent_ciliated": 14.5, "z_score": 14.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.8759, "sd_percent_ciliated": -8.8759, "z_score": -8.8759, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CERKL", "ensembl_id": "ENSG00000188452", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CERK like autophagy regulator [Source:HGNC Symbol,Acc:HGNC:21699]", "omim_id": "608381", "functional_summary": "Cerkl localized to axonemes (29180514).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29180514, 14681825 ,14681825", "complex_components": {}, "pfam_ids": ["PF00781", "PF19280"], "domain_descriptions": ["Diacylglycerol kinase", "catalytic domain", "NAD kinase/diacylglycerol kinase-like domain superfamily", "Inorganic polyphosphate/ATP-NAD kinase", "N-terminal", "Ceramide kinase", "C-terminal domain", "Lipid Phosphate Formation and Regulation"], "string_link": "https://string-db.org/network/9606/ENSG00000188452", "synonym": "RP26", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cerkl", "ortholog_c_elegans": "cerk-1", "ortholog_xenopus": "cerkl", "ortholog_zebrafish": "cerkl", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.567, "sd_percent_ciliated": 0.567, "z_score": 0.567, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2847, "sd_percent_ciliated": -1.2847, "z_score": -1.2847, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CERS5", "ensembl_id": "ENSG00000139624", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ceramide synthase 5 [Source:HGNC Symbol,Acc:HGNC:23749]", "omim_id": "615335", "functional_summary": "CERS5 has localized in ciliary tip, primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF03798", "PF00046"], "domain_descriptions": ["Homeodomain", "TRAM/LAG1/CLN8 homology domain", "Homedomain-like superfamily", "Sphingosine N-acyltransferase Lag1/Lac1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000139624", "synonym": "FLJ25304, LASS5, MGC45411, TRH4", "ortholog_mouse": "Cers5", "ortholog_c_elegans": "hyl-1, hyl-2", "ortholog_xenopus": "cers5", "ortholog_zebrafish": "cers5", "ortholog_drosophila": "schlank", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.24, "sd_percent_ciliated": 6.24, "z_score": 6.24, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7062, "sd_percent_ciliated": -0.7062, "z_score": -0.7062, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CES3", "ensembl_id": "ENSG00000172828", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "carboxylesterase 3 [Source:HGNC Symbol,Acc:HGNC:1865]", "omim_id": "605279", "functional_summary": "CES3,Foxj1-induced genes, localized along the extracellular shafts of the motile cilia (25139857).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": "PF00135", "domain_descriptions": ["Carboxylesterase", "type B", "Carboxylesterase type B", "active site", "Alpha/Beta hydrolase fold", "Type-B Carboxylesterase/Lipase"], "string_link": "https://string-db.org/network/9606/ENSG00000172828", "synonym": "ES31, FLJ21736", "ortholog_mouse": "Ces3a, Ces3b", "ortholog_c_elegans": "cest-2.2, cest-24, cest-7", "ortholog_xenopus": "ces2.7", "ortholog_zebrafish": "ces2a, ces3", "ortholog_drosophila": "α-Est2, α-Est7, α-Est8", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.7669, "sd_percent_ciliated": 2.0882, "z_score": -0.0294, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.83, "sd_percent_ciliated": 1.83, "z_score": 1.83, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.15, "sd_percent_ciliated": 1.15, "z_score": 1.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.4216, "sd_percent_ciliated": -8.4216, "z_score": -8.4216, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CETN1", "ensembl_id": "ENSG00000177143", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrin 1 [Source:HGNC Symbol,Acc:HGNC:1866]", "omim_id": "603187", "functional_summary": "CEP290 and CETN1 similarly overlap at the wildtype connecting cilium and CETN1 accumulation in the Cetn2,Cetn3 central connecting cilium (30647131).", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "30647131 ,23641067, 21953912", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["ATP-dependent RNA helicase DEAD-box", "conserved site", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Centrin/CML-like"], "string_link": "https://string-db.org/network/9606/ENSG00000177143", "synonym": "CEN1, CETN", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cetn1", "ortholog_c_elegans": "B0563.7, E02A10.3", "ortholog_xenopus": "cetn2", "ortholog_drosophila": "CG17493, CG31802", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.8358, "sd_percent_ciliated": 6.5526, "z_score": 1.1905 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.556, "sd_percent_ciliated": 0.556, "z_score": 0.556 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2121, "sd_percent_ciliated": -1.2121, "z_score": -1.2121 } ] }, { "gene": "CETN2", "ensembl_id": "ENSG00000147400", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrin 2 [Source:HGNC Symbol,Acc:HGNC:1867]", "omim_id": "300006", "functional_summary": "Synthesis and accumulation of CETN2 is required for centriole duplication (12176356). Regulation of primary ciliogenesis through controlling CP110 levels and localisation (25753040). Stabilisation of connecting cilium axoneme structure. CETN2 is required for photoreceptor survival by regulating SPATA7 CC localization, distal connecting cilium/axoneme microtubule stability, and outer segment disc orientation (30647131)", "localization": "basal body, flagella, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "12176356, 25753040, 30647131", "complex_components": ["CETN2", "ENY2", "MCM3AP", "PCID2", "SEM1", "RAD23B", "XPC", "RAD23A", "CALM1", "CCP110"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000147400", "synonym": "CALT, CEN2", "ortholog_mouse": "Cetn2", "ortholog_c_elegans": "B0563.7, E02A10.3, R08D7.5", "ortholog_xenopus": "cetn2", "ortholog_zebrafish": "cetn2", "ortholog_drosophila": "CG17493", "screens": {} }, { "gene": "CETN3", "ensembl_id": "ENSG00000153140", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centrin 3 [Source:HGNC Symbol,Acc:HGNC:1868]", "omim_id": "602907", "functional_summary": "CETN3 is also required for photoreceptor survival by regulating SPATA7 CC localization, distal connecting cilium/axoneme microtubule stability, and outer segment disc orientation (30647131). CETN3 restrains centriole assembly by inhibiting Mps1 ki se activity at centrosomes and phosphorylation of both the specific substrate CETN2 (26354417)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "30647131, 26354417", "complex_components": ["CETN3", "ENY2", "MCM3AP", "PCID2", "SEM1"], "pfam_ids": ["PF13499", "PF00036"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Calmodulin/Myosin light chain/Troponin C-like"], "string_link": "https://string-db.org/network/9606/ENSG00000153140", "synonym": "CEN3", "ortholog_mouse": "Cetn3", "ortholog_zebrafish": "cetn3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.7555, "sd_percent_ciliated": 14.5647, "z_score": -0.7577, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.59, "sd_percent_ciliated": 3.59, "z_score": 3.59, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8276, "sd_percent_ciliated": -2.8276, "z_score": -2.8276, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CFAP100", "ensembl_id": "ENSG00000163885", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 100 [Source:HGNC Symbol,Acc:HGNC:26842]", "functional_summary": "Also called CCDC37 or MIA1. Formation of the modifier of inner arms (MIA) complex in flagella, which is required for normal ciliary motility. MIA1 affects the structure and stablity of I1 dynein (23569216)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "2.3569216E7", "complex_components": {}, "pfam_ids": "PF13863", "domain_descriptions": ["Domain of Not Reported function DUF4200", "Cilia- and flagella-associated domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000163885", "synonym": "CCDC37, FLJ40083, MIA1", "ortholog_mouse": "Cfap100", "ortholog_xenopus": "cfap100", "ortholog_zebrafish": "cfap100", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP119", "ensembl_id": "ENSG00000196118", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 119 [Source:HGNC Symbol,Acc:HGNC:28078]", "omim_id": "618318", "functional_summary": "CFAP119 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14769", "domain_descriptions": "Flagellar C1a complex subunit C1a-32", "string_link": "https://string-db.org/network/9606/ENSG00000196118", "synonym": "C16ORF93, CCDC189, MGC104706", "ortholog_mouse": "Cfap119", "ortholog_xenopus": "cfap119", "ortholog_zebrafish": "cfap119", "screens": {} }, { "gene": "CFAP126", "ensembl_id": "ENSG00000188931", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 126 [Source:HGNC Symbol,Acc:HGNC:32325]", "omim_id": "616119", "functional_summary": "Also called Flattop.Required cilia formation. Regulator for BB docking and positioning in mono- and multiciliated cell types that acquire pla r cell polarity. Fltp interacts with Dlg3 to surround the basal body and anchor this organelle asymmetrically to the apical cortex (25296022)", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.5296022E7", "complex_components": {}, "pfam_ids": "PF22611", "domain_descriptions": "Protein Flattop", "string_link": "https://string-db.org/network/9606/ENSG00000188931", "synonym": "C1ORF192, FLATTOP, FLTP", "ortholog_mouse": "Cfap126", "ortholog_xenopus": "cfap126", "ortholog_zebrafish": "cfap126", "ortholog_drosophila": "CG3062", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.365, "sd_percent_ciliated": 0.365, "z_score": 0.365, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP144", "ensembl_id": "ENSG00000186973", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 144 [Source:HGNC Symbol,Acc:HGNC:34347]", "functional_summary": "Positive staining for motile ciliated cells was observed in the mouse brain, however, ISH staining of ependymal cells lining the choroid plexus in the chickens was only observed in the cases of EFCAB6, FAM183A and MYCBPAP (32616903).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.2616903E7", "complex_components": {}, "pfam_ids": "PF14886", "domain_descriptions": "Cilia- and flagella-associated protein 144", "string_link": "https://string-db.org/network/9606/ENSG00000186973", "synonym": "FAM183A, HCG23177, LOC440585", "ortholog_mouse": "Cfap144", "ortholog_zebrafish": "cfap144", "screens": {} }, { "gene": "CFAP144P1", "ensembl_id": "ENSG00000164556", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CFAP144 pseudogene 1 [Source:HGNC Symbol,Acc:HGNC:34511]", "functional_summary": "Required for ciliogenesis and motility of epidermal multiciliated cells and nephrostomes. Interaction partner of nucleoporin NUP93, which may function as scaffolding proteins at the ciliary base.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Cell migration & adhesion", "reference": "2.9661797E7", "complex_components": {}, "pfam_ids": "PF14886", "domain_descriptions": "Cilia- and flagella-associated protein 144", "string_link": "https://string-db.org/network/9606/ENSG00000164556", "synonym": "FAM183B, FAM183BP, LOC340286, THEG6", "ortholog_mouse": "Cfap144", "screens": {} }, { "gene": "CFAP157", "ensembl_id": "ENSG00000160401", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 157 [Source:HGNC Symbol,Acc:HGNC:27843]", "functional_summary": "Interacts with tubulin and CEP350, it targets proteins to the centrosome and is therefore required for ciliogenesis. Downstream efector of FOXJ1 that acts during spermiogenesis potentially suppressing the formation of supernumerary axonemes and ensures a correct ultrastructur (27965440)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.796544E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000160401", "synonym": "C9ORF117", "ortholog_mouse": "Cfap157", "ortholog_xenopus": "cfap157", "ortholog_zebrafish": "cfap157", "ortholog_drosophila": "CG17122", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP161", "ensembl_id": "ENSG00000156206", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 161 [Source:HGNC Symbol,Acc:HGNC:26782]", "functional_summary": "Also called C15orf26. Studies in zebrafish suggest it is essential for cilia motility (24094744)", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.4094744E7", "complex_components": {}, "pfam_ids": "PF24569", "domain_descriptions": "Cilia- and flagella-associated protein 161", "string_link": "https://string-db.org/network/9606/ENSG00000156206", "synonym": "C15ORF26, FLJ38615", "ortholog_mouse": "Cfap161", "ortholog_zebrafish": "cfap161", "ortholog_drosophila": "CG15498, CG34457", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.24, "sd_percent_ciliated": 2.24, "z_score": 2.24, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP184", "ensembl_id": "ENSG00000173013", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 184 [Source:HGNC Symbol,Acc:HGNC:26900]", "omim_id": "619347", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "25074808 ,33661892", "complex_components": {}, "pfam_ids": "PF13870", "domain_descriptions": ["CCDC113/CCDC96", "coiled-coil", "Coiled-coil domain-containing protein involved in ciliogenesis"], "string_link": "https://string-db.org/network/9606/ENSG00000173013", "synonym": "CCDC96, FLJ90575", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc96", "ortholog_xenopus": "cfap184", "ortholog_zebrafish": "cfap184", "screens": {} }, { "gene": "CFAP20", "ensembl_id": "ENSG00000070761", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 20 [Source:HGNC Symbol,Acc:HGNC:29523]", "omim_id": "617906", "functional_summary": "High-speed video microscopy and morphological analysis of Bug22p-depleted cells showed that the protein plays an important role in the efficiency of ciliary movement by participating in the stroke shape and rigidity of cilia(PMID: 20118210).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "20118210, 3524656, 36329026", "complex_components": ["ACIN1", "AGGF1", "BCAS2", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDC5L", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "CWC15", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PLRG1", "PNN", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF19", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RBMX", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SRRM1", "SRRM2", "SRRT", "SRSF1", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000070761", "synonym": "CFAP20,CFAP20,ENSG00000070761, GTL3, BUG22, EVORF, fSAP23, C16orf80", "ortholog_mouse": "Cfap20", "ortholog_c_elegans": "cfap-20", "ortholog_xenopus": "cfap20", "ortholog_zebrafish": "cfap20", "ortholog_drosophila": "Bug22", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.184, "sd_percent_ciliated": 0.184, "z_score": 0.184, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP206", "ensembl_id": "ENSG00000272514", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "cilia and flagella associated protein 206 [Source:HGNC Symbol,Acc:HGNC:21405]", "functional_summary": "CFAP206 localises to the ciliary axoneme and basal body. The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development(32376681).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "32376681, 32376681, https://doi.org/10.3389/fmars.2022.864037 ,32376681", "complex_components": {}, "pfam_ids": "PF12018", "domain_descriptions": "Cilia- and flagella-associated protein 206", "string_link": "https://string-db.org/network/9606/ENSG00000272514", "synonym": "C6ORF165, DJ382I10.1, FLJ25974", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap206", "ortholog_xenopus": "cfap206", "ortholog_zebrafish": "cfap206", "ortholog_drosophila": "CG13436", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.569, "sd_percent_ciliated": 0.569, "z_score": 0.569, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP20DC", "ensembl_id": "ENSG00000163689", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CFAP20 domain containing [Source:HGNC Symbol,Acc:HGNC:24763]", "functional_summary": "CFAP20DC (C6H3orf67),Foxj1-induced genes, localized along the extracellular shafts of the motile cilia (25139857).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": "PF05018", "domain_descriptions": ["CFA20 domain", "Cilia- and flagella-associated protein 20/CFAP20DC"], "string_link": "https://string-db.org/network/9606/ENSG00000163689", "synonym": "C3ORF67, FLJ42117, FLJ42930", "ortholog_mouse": "Cfap20dc", "ortholog_xenopus": "cfap20dc", "ortholog_zebrafish": "cfap20dc", "screens": {} }, { "gene": "CFAP221", "ensembl_id": "ENSG00000163075", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 221 [Source:HGNC Symbol,Acc:HGNC:33720]", "omim_id": "618704", "functional_summary": "Mouse homologue Pcdp1 causes PCD and brain defects in mice when mutated (18039845, 25073043). Interacts with CFAP54 and SPEF2 (32704025). Identified as a cause of PCD in humans in 2020 (31636325)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "18039845, 25073043, 31636325 ,(Lee, Lance et al.,2008)", "complex_components": {}, "pfam_ids": ["PF24771", "PF24507", "PF22544"], "domain_descriptions": ["Immunoglobulin-like fold", "Cilia- and flagella-associated protein 221", "HYDIN/VesB/CFA65-like", "Ig-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000163075", "synonym": "FAP221, PCDP1", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap221", "ortholog_zebrafish": "cfap221", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.24, "sd_percent_ciliated": 1.24, "z_score": 1.24, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP251", "ensembl_id": "ENSG00000158023", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 251 [Source:HGNC Symbol,Acc:HGNC:28506]", "omim_id": "618146", "functional_summary": "Encodes CFAP251, suggested to play structural role during biogenesis of the spermatozoon flagellum in vertebrates.. Biallelic loss-of- function mutations in CFAP251 cause spermatogenic failure type 33 in human males (OMIM: 618146) (30122541). Normally located along the sperm flagellum but absent in men carrying WDR66 mutations (30122541). Component of the calmodulin- and radial-spoke- associated complex, located adjacent to D H1, on the inner surface of the peripheral microtubule doublets of the axoneme (30122541). Tetrahyme ortholog necessary for efficient coordi ted ciliary beating. (30122541). Involved in central pair complex assembly/stability 30686508", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "15937072, 21289087, 30060180 ,30122540", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat Echinoderm Microtubule-associated Protein-like", "Quinoprotein alcohol dehydrogenase-like superfamily", "EF-hand domain pair"], "string_link": "https://string-db.org/network/9606/ENSG00000158023", "synonym": "CAM-IP4, MGC33630, WDR66", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap251", "ortholog_xenopus": "cfap251", "ortholog_zebrafish": "cfap251", "screens": {} }, { "gene": "CFAP263", "ensembl_id": "ENSG00000103021", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 263 [Source:HGNC Symbol,Acc:HGNC:25002]", "omim_id": "616070", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": "PF13870", "domain_descriptions": ["CCDC113/CCDC96", "coiled-coil", "Coiled-coil domain-containing protein involved in ciliogenesis"], "string_link": "https://string-db.org/network/9606/ENSG00000103021", "synonym": "CCDC113, DKFZP434N1418, HSPC065", "ortholog_mouse": "Ccdc113", "ortholog_xenopus": "cfap263", "ortholog_zebrafish": "cfap263", "ortholog_drosophila": "CG13693", "screens": {} }, { "gene": "CFAP276", "ensembl_id": "ENSG00000179902", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 276 [Source:HGNC Symbol,Acc:HGNC:32331]", "omim_id": "618682", "functional_summary": "CFAP276 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF12494", "domain_descriptions": "Cilia- and flagella-associated protein 276", "string_link": "https://string-db.org/network/9606/ENSG00000179902", "synonym": "C1ORF194", "ortholog_mouse": "Cfap276", "ortholog_xenopus": "cfap276", "ortholog_zebrafish": "si:ch211-163l21.7", "ortholog_drosophila": "CG5435", "screens": {} }, { "gene": "CFAP298", "ensembl_id": "ENSG00000159079", "overexpression_effects": "Not reported", "lof_effects": "No effect/slightly shorter cilia", "percent_ciliated_cells_effects": "slightly decreased cilia number", "description": "cilia and flagella associated protein 298 [Source:HGNC Symbol,Acc:HGNC:1301]", "omim_id": "615494", "functional_summary": "Also known as C21orf59 or kur) Mutated in primary ciliary diskinesia and regulates dynein arm assembly required for motile cilia function (24094744). Involved in cilia- associated developmental processes, recruitment of outer dynein arms required for initiating cilia motility. Studies suggest it has a role in the establishment of cilia polarity (26904945)", "localization": "basal body, cilia , transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Transition zone", "reference": "24094744, 26904945, 24094744, 40463022, 40106351 ,24094744", "complex_components": ["CFAP298", "DNAAF11", "DNAAF4", "HSPA8", "IQUB", "RUVBL2", "ZMYND10"], "pfam_ids": "PF11069", "domain_descriptions": "Cilia- and flagella-associated protein 298", "string_link": "https://string-db.org/network/9606/ENSG00000159079", "synonym": "C21ORF48, C21ORF59, CILD26, DNAAF16, FBB18, FLJ20467, KUR", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap298", "ortholog_xenopus": "cfap298", "ortholog_zebrafish": "cfap298", "ortholog_drosophila": "CG18675", "screens": {} }, { "gene": "CFAP300", "ensembl_id": "ENSG00000137691", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Incrased cilia number", "description": "cilia and flagella associated protein 300 [Source:HGNC Symbol,Acc:HGNC:28188]", "omim_id": "618058", "functional_summary": "(c11orf70) Involved in the cytoplasmic assembly, maturation, intraflagellar transport (IFT)-dependant assembly of axonemal dyneins required for cilia motility in multiciliated cells. Plays a role within protein folding and trafficking pathways required for the cytoplasmic preassembly of dynein arm motors and subsequent import into the motile ciliary axoneme (29727692, 29727693)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation, Cell migration & adhesion", "reference": "29727692, 29727693, 29727692, 29727693, 36246608 ,29727692, 29727693", "complex_components": {}, "pfam_ids": "PF14926", "domain_descriptions": "Cilia- and flagella-associated protein 300", "string_link": "https://string-db.org/network/9606/ENSG00000137691", "synonym": "C11ORF70, DNAAF17, FBB5, MGC13040", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap300", "ortholog_xenopus": "cfap300", "ortholog_zebrafish": "cfap300", "screens": {} }, { "gene": "CFAP36", "ensembl_id": "ENSG00000163001", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 36 [Source:HGNC Symbol,Acc:HGNC:30540]", "functional_summary": "Interacts with Arl3 and may regulate its ciliary localisation and function (26455799)", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "2.6455799E7", "complex_components": {}, "pfam_ids": "PF11527", "domain_descriptions": ["BART domain", "Cilia- and flagella-associated protein 36", "BART domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000163001", "synonym": "BARTL1, CCDC104, MGC15407", "ortholog_mouse": "Cfap36", "ortholog_c_elegans": "cfap-36", "ortholog_xenopus": "cfap36", "ortholog_zebrafish": "cfap36", "ortholog_drosophila": "CG14367", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP410", "ensembl_id": "ENSG00000160226", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cilia and flagella associated protein 410 [Source:HGNC Symbol,Acc:HGNC:1260]", "omim_id": "603191", "functional_summary": "C21orf2. It may play roles in cilia formation and/or mainte nce (21289087). Mutated in both syndromic and non-syndromic reti l degeneration. It is part of a of a ciliary functio l complex that includes NEK1, C21orf2 and reti l ciliopathy protein SPATA7, where C21orf2 might represent a substrate of NEK1", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "21289087, 26167768, 26974433, 26294103, 37901396, 40933646 ,26294103; 26974433; 37901396", "complex_components": ["CFAP410", "NEK1", "SPATA7"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000160226", "synonym": "A2, C21ORF2, LRRC76, YF5", "ciliopathy": "Retinal Dystrophy; Spondylometaphyseal Dysplasia; Cone-Rod Dystrophy", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap410", "ortholog_c_elegans": "F09G8.5", "ortholog_xenopus": "cfap410", "ortholog_zebrafish": "cfap410", "ortholog_drosophila": "CG14995, CG15208", "screens": {} }, { "gene": "CFAP418", "ensembl_id": "ENSG00000156172", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 418 [Source:HGNC Symbol,Acc:HGNC:27232]", "omim_id": "614477", "functional_summary": "Mutations are associated with cone-rod dystrophy, retinitis pigmentosa (22177090) and Bardet Biedl syndrome (27008867). Studies suggest C8orf37 is involved with primary cilia function and implicated in the development of BBS (27008867).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "22177090, 27008867, 26854863, 25802487 ,27008867, 26854863; 22177090", "complex_components": {}, "pfam_ids": "PF14996", "domain_descriptions": "Cilia- and flagella-associated protein 418", "string_link": "https://string-db.org/network/9606/ENSG00000156172", "synonym": "BBS21, C8ORF37, CORD16, FAP418, FLJ30600, MOT25., RP64, SMALLTALK", "ciliopathy": "Bardet–Biedl Syndrome; Cone-Rod Dystrophy", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap418", "ortholog_xenopus": "cfap418", "ortholog_zebrafish": "cfap418", "screens": {} }, { "gene": "CFAP43", "ensembl_id": "ENSG00000197748", "description": "cilia and flagella associated protein 43 [Source:HGNC Symbol,Acc:HGNC:26684]", "omim_id": "617558", "functional_summary": "Formation of flagellar axonemes during spermatogenesis. Contains WD repeat domains, which are highly enriched in the intraflagellar transport proteins of sperm flagella (28552195). Essential for beating, but not rotating left-right organiser (LRO) or immotile cilia. Involved in the regulation of the beating frequency of tracheal cilia (31884020)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "31884020, 28552195 ,31004071", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000197748", "synonym": "BA373N18.2, C10ORF79, FLJ22944, FLJ36006, WDR96", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap43", "ortholog_xenopus": "cfap43", "ortholog_zebrafish": "cfap43", "ortholog_drosophila": "CG17687", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0031, "sd_percent_ciliated": 0.0031, "z_score": 0.0031, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP44", "ensembl_id": "ENSG00000206530", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 44 [Source:HGNC Symbol,Acc:HGNC:25631]", "omim_id": "617559", "functional_summary": "Ciliary proteins Fap43 and Fap44 interact with each other and are essential for proper cilia and flagella beating(29687140).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.968714E7", "complex_components": {}, "pfam_ids": ["PF23409", "PF00400"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "Echinoderm microtubule-associated protein-like", "first beta-propeller domain"], "string_link": "https://string-db.org/network/9606/ENSG00000206530", "synonym": "FLJ11142, WDR52", "ortholog_mouse": "Cfap44", "ortholog_xenopus": "cfap44", "ortholog_drosophila": "CG34124", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.18, "sd_percent_ciliated": 5.18, "z_score": 5.18, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP45", "ensembl_id": "ENSG00000213085", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cilia and flagella associated protein 45 [Source:HGNC Symbol,Acc:HGNC:17229]", "omim_id": "605152", "functional_summary": "CFAP45 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273, 33139725, 37172641 ,33139725; 30850601", "complex_components": {}, "pfam_ids": "PF13868", "domain_descriptions": ["Cilia- and flagella-associated protein 45", "Trichohyalin-plectin-homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000213085", "synonym": "CCDC19, NESG1", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap45", "ortholog_xenopus": "cfap45", "ortholog_zebrafish": "cfap45", "ortholog_drosophila": "CG11449", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.98, "sd_percent_ciliated": 2.98, "z_score": 2.98, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP46", "ensembl_id": "ENSG00000171811", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 46 [Source:HGNC Symbol,Acc:HGNC:25247]", "omim_id": "618543", "functional_summary": "Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause C1d-defective PCD with normal body laterality, sal NO production, ciliary ultrastructure and ciliary beating (39362668).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "39362668 ,32616903", "complex_components": {}, "pfam_ids": "PF03568", "domain_descriptions": "Cilia- and flagella-associated protein 46", "string_link": "https://string-db.org/network/9606/ENSG00000171811", "synonym": "BA288G11.4, BA288G11.5, BB137A17.2, BB137A17.3, C10ORF123, C10ORF124, C10ORF92, C10ORF93, DKFZP434A1721, FLJ25954, TTC40", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap46", "ortholog_xenopus": "cfap46", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.754, "sd_percent_ciliated": 0.754, "z_score": 0.754, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP47", "ensembl_id": "ENSG00000165164", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cilia and flagella associated protein 47 [Source:HGNC Symbol,Acc:HGNC:26708]", "omim_id": "301057", "functional_summary": "Hemizygous mutations in CFAP47 can induce X-linked multiple morphological abnormalities of the flagella and asthenoteratozoospermia in humans and mice. Expressed in spermatozoa, but exact localisation not known (33472045)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "33472045, 38633811, 37723893, 37723893 ,38633811; 37723893", "complex_components": {}, "pfam_ids": ["PF22544", "PF24529"], "domain_descriptions": ["Immunoglobulin-like fold", "HYDIN/VesB/CFA65-like", "Ig-like domain", "Calponin homology domain", "CH domain superfamily", "Cilia- and flagella-associated protein 47 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000165164", "synonym": "CHDC2, CXORF22, CXORF30, CXORF59, FLJ36601, MGC34831, RP13-11B7.1", "ciliopathy": "Polycystic Kidney Disease; Primary Ciliary Dyskinesia", "ciliopathy_classification": "Primary Ciliopathies; Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap47", "ortholog_xenopus": "cfap47", "screens": {} }, { "gene": "CFAP52", "ensembl_id": "ENSG00000166596", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 52 [Source:HGNC Symbol,Acc:HGNC:16053]", "omim_id": "609804", "functional_summary": "Also called WDR16. Wdr16 can be considered a differentiation marker of kinocilia鈥恇earing cells. In the", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "33139725 ,35637434", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000166596", "synonym": "FLJ37528, WDR16, WDRPUH", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap52", "ortholog_xenopus": "cfap52", "ortholog_zebrafish": "cfap52", "ortholog_drosophila": "CG10064", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP53", "ensembl_id": "ENSG00000172361", "overexpression_effects": "Not reported", "lof_effects": "Slightly shorter cilia", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 53 [Source:HGNC Symbol,Acc:HGNC:26530]", "omim_id": "614759", "functional_summary": "Also called CCDC11. Assembly and function of primary and motile cilia, providing recruitment sites for proteins destined for the centrosome and cilium. Involved in left-right patterning and maintaining centriolar satellite organization of PCM- 1 and Cep290 at centriolar satellites (26538025).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Transition zone", "reference": "26538025, 22577226, 25504577, 33347437 ,25074808", "complex_components": {}, "pfam_ids": "PF13868", "domain_descriptions": ["CFAP53/TCHP", "Trichohyalin-plectin-homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000172361", "synonym": "CCDC11, FLJ32743", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap53", "ortholog_xenopus": "cfap53", "ortholog_zebrafish": "cfap53", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.7, "sd_percent_ciliated": 0.7, "z_score": 0.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP54", "ensembl_id": "ENSG00000188596", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 54 [Source:HGNC Symbol,Acc:HGNC:26456]", "functional_summary": "Member of C1d complex. CFAP54 is required C1d assembly mechanisms, therefor, it is necessary for proper assembly and motility of mammalian cilia and flagella. Role in spermatogenesis (26224312)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "26224312, 26224312 ,26224312; 26224312, 26224312", "complex_components": {}, "pfam_ids": "PF14858", "domain_descriptions": "Cilia- and flagella-associated protein 54", "string_link": "https://string-db.org/network/9606/ENSG00000188596", "synonym": "C12ORF55, C12ORF63, FLJ31514, FLJ44112", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap54", "ortholog_xenopus": "cfap54", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.723, "sd_percent_ciliated": 0.723, "z_score": 0.723, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP57", "ensembl_id": "ENSG00000243710", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 57 [Source:HGNC Symbol,Acc:HGNC:26485]", "omim_id": "614259", "functional_summary": "Also known as WDR65. Required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomo s. In normal human sal epithelial cells, CFAP57 localizes throughout the ciliary axoneme. Homozygous nonsense variant found in one PCD case (32764743)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "32764743, 32764743 ,32764743", "complex_components": {}, "pfam_ids": ["PF23414", "PF00400"], "domain_descriptions": ["WD40 repeat", "Quinoprotein alcohol dehydrogenase-like superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "Cilia- and flagella-associated protein 57", "EML-like", "second beta-propeller domain", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000243710", "synonym": "FLJ32000, WDR65", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap57", "ortholog_xenopus": "cfap57", "ortholog_zebrafish": "cfap57", "ortholog_drosophila": "tous", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP58", "ensembl_id": "ENSG00000120051", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cilia and flagella associated protein 58 [Source:HGNC Symbol,Acc:HGNC:26676]", "omim_id": "619129", "functional_summary": "Bi-allelic Loss-of-function variants cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice (32791035). Exhibits similar localization to Odf2/Cenexin proteins and is required for the elongation of the primary cilium and sperm midpiece via modulation of the Notch sig ling pathway. (31904090)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "32791035, 31904090, 31904090 ,31904090", "complex_components": {}, "pfam_ids": "PF21771", "domain_descriptions": ["Cilia- and flagella-associated protein 58", "central coiled coil"], "string_link": "https://string-db.org/network/9606/ENSG00000120051", "synonym": "BA554P13.1, C10ORF80, CCDC147, FLJ35908", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap58", "ortholog_xenopus": "cfap58", "ortholog_zebrafish": "cfap58", "ortholog_drosophila": "CG5882, CG6059, ORY", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.72, "sd_percent_ciliated": 6.72, "z_score": 6.72, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP61", "ensembl_id": "ENSG00000089101", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 61 [Source:HGNC Symbol,Acc:HGNC:15872]", "omim_id": "620381", "functional_summary": "CFAP61 recognized in human sperm flagellum with a strong accumulation sig l at the midpiece as well as throughout the flagellum, and also noted that co-localizes with tubulin, also suggesting axonemal pattern for CFAP61(36659204).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "36659204 ,10.1101/2021.03.04.433881", "complex_components": {}, "pfam_ids": ["PF16092", "PF23150"], "domain_descriptions": ["Acyl-CoA N-acyltransferase", "Cilia- and flagella-associated protein 61", "N-terminal domain", "Cilia- and flagella-associated protein 61", "FAD/NAD(P)-binding domain superfamily", "CFAP61", "dimerisation domain"], "string_link": "https://string-db.org/network/9606/ENSG00000089101", "synonym": "C20ORF26, CAM-IP3, DJ1002M8.3, DKFZP434K156", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap61", "ortholog_xenopus": "cfap61", "ortholog_zebrafish": "cfap61", "ortholog_drosophila": "CG30268, CG30275", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.72, "sd_percent_ciliated": 2.72, "z_score": 2.72, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP65", "ensembl_id": "ENSG00000181378", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 65 [Source:HGNC Symbol,Acc:HGNC:25325]", "omim_id": "614270", "functional_summary": "Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and multiple malformations of the sperm flagella (31413122, 31501240, 31571197)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "31413122, 31501240, 39853433 ,34100391, 31413122", "complex_components": {}, "pfam_ids": ["PF24291", "PF24816", "PF24507"], "domain_descriptions": ["Major sperm protein (MSP) domain", "Immunoglobulin-like fold", "Cilia-Flagella-Associated Protein 65", "Cilia- and flagella-associated protein 65-like", "tenth Ig-like domain", "PapD-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000181378", "synonym": "CCDC108, DKFZP434O0527, MGC35338", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap65", "ortholog_xenopus": "cfap65", "ortholog_zebrafish": "cfap65", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP69", "ensembl_id": "ENSG00000105792", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 69 [Source:HGNC Symbol,Acc:HGNC:26107]", "omim_id": "617949", "functional_summary": "CFAP69 is necessary for flagellum assembly/stability. Mutations cause multiple morphological abnormalities of the flagella and primary male infertility (29606301). Regulates olfactory transduction kinetics in the olfactory sensory neurons of mice (28495971)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "29606301, 28495971", "complex_components": {}, "pfam_ids": "PF21049", "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "Cilia- and flagella-associated protein 69", "Cilia- and flagella-associated protein 69", "ARM repeats domain"], "string_link": "https://string-db.org/network/9606/ENSG00000105792", "synonym": "C7ORF63, FAP69, FLJ21062", "ortholog_mouse": "Cfap69", "ortholog_xenopus": "cfap69", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.853, "sd_percent_ciliated": 0.853, "z_score": 0.853, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP70", "ensembl_id": "ENSG00000156042", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "cilia and flagella associated protein 70 [Source:HGNC Symbol,Acc:HGNC:30726]", "omim_id": "618661", "functional_summary": "Regulator component of the outer dynein arm in motile cilia and flagella, regulating ciliary motility and length (30158508)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "30158508, 31621862", "complex_components": {}, "pfam_ids": "PF13181", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Cilia- and flagella-associated protein 70"], "string_link": "https://string-db.org/network/9606/ENSG00000156042", "synonym": "FLJ25765, TTC18", "ortholog_mouse": "Cfap70", "ortholog_xenopus": "cfap70", "ortholog_zebrafish": "cfap70", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.73, "sd_percent_ciliated": 1.73, "z_score": 1.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP74", "ensembl_id": "ENSG00000142609", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 74 [Source:HGNC Symbol,Acc:HGNC:29368]", "omim_id": "620187", "functional_summary": "Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause C1d-defective PCD with normal body laterality, sal NO production, ciliary ultrastructure and ciliary beating (39362668).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "39362668, 32555313 ,32555313", "complex_components": {}, "pfam_ids": ["PF24770", "PF24798", "PF24771", "PF24778"], "domain_descriptions": ["Immunoglobulin-like fold", "CFAP74", "second Ig-like domain", "CFAP74", "third Ig-like domain", "CFAP74", "fourth Ig-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000142609", "synonym": "C1ORF222, FLJ45476, KIAA1751", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cfap74", "ortholog_xenopus": "cfap74", "ortholog_zebrafish": "cfap74", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.87, "sd_percent_ciliated": 2.87, "z_score": 2.87, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP77", "ensembl_id": "ENSG00000188523", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 77 [Source:HGNC Symbol,Acc:HGNC:33776]", "functional_summary": "CFAP77A and CFAP77B proteins expressed as fusions with C-termi l 3HA tag under the control of respective tive promoters revealed that CFAP77A is present at the proximal end of the cilium while CFAP77B localizes along the entire cilium length except for the distal tip (37061538).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.7061538E7", "complex_components": {}, "pfam_ids": "PF14825", "domain_descriptions": "Cilia- and flagella-associated protein 77", "string_link": "https://string-db.org/network/9606/ENSG00000188523", "synonym": "C9ORF171, FLJ46082", "ortholog_mouse": "Cfap77", "ortholog_xenopus": "cfap77", "ortholog_zebrafish": "cfap77", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.05, "sd_percent_ciliated": 1.05, "z_score": 1.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP95", "ensembl_id": "ENSG00000204711", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 95 [Source:HGNC Symbol,Acc:HGNC:31422]", "functional_summary": "CFAP95 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15139", "domain_descriptions": "Cilia- and flagella-associated protein 95", "string_link": "https://string-db.org/network/9606/ENSG00000204711", "synonym": "C9ORF135", "ortholog_mouse": "Cfap95", "ortholog_xenopus": "cfap95", "screens": {} }, { "gene": "CFAP96", "ensembl_id": "ENSG00000205129", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 96 [Source:HGNC Symbol,Acc:HGNC:34346]", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": "PF15239", "domain_descriptions": "Cilia-and flagella-associated protein 96", "string_link": "https://string-db.org/network/9606/ENSG00000205129", "synonym": "C4ORF47, LOC441054", "ortholog_mouse": "Cfap96", "ortholog_xenopus": "cfap96", "ortholog_zebrafish": "cfap96", "screens": {} }, { "gene": "CFAP97", "ensembl_id": "ENSG00000164323", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 97 [Source:HGNC Symbol,Acc:HGNC:29276]", "omim_id": "616047", "functional_summary": "CFAP97 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF13879", "domain_descriptions": ["Hemingway/CFA97", "Cilia- and flagella-associated protein 97"], "string_link": "https://string-db.org/network/9606/ENSG00000164323", "synonym": "DKFZP434F1728, HMW, KIAA1430", "ortholog_mouse": "Cfap97", "ortholog_xenopus": "cfap97", "ortholog_zebrafish": "cfap97", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.6, "sd_percent_ciliated": 5.6, "z_score": 5.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CFAP97D1", "ensembl_id": "ENSG00000231256", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CFAP97 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:37241]", "omim_id": "619866", "functional_summary": "Cfap97d1 is required for sperm flagellum ultra-structure mainte nce, thereby playing a critical role in sperm function and male fertility in mice (32785227).", "localization": "flagella, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.2785227E7", "complex_components": {}, "pfam_ids": "PF13879", "domain_descriptions": ["Hemingway/CFA97", "CFAP97 domain-containing protein 1/2"], "string_link": "https://string-db.org/network/9606/ENSG00000231256", "synonym": "C17ORF105", "ortholog_mouse": "Cfap97d1", "ortholog_xenopus": "cfap97d1", "ortholog_drosophila": "Cfap97D", "screens": {} }, { "gene": "CFAP99", "ensembl_id": "ENSG00000206113", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cilia and flagella associated protein 99 [Source:HGNC Symbol,Acc:HGNC:51180]", "functional_summary": "CFAP99 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000206113", "ortholog_mouse": "Cfap99", "ortholog_xenopus": "cfap99", "ortholog_zebrafish": "cfap99", "screens": {} }, { "gene": "CFC1", "ensembl_id": "ENSG00000136698", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cryptic, EGF-CFC family member 1 [Source:HGNC Symbol,Acc:HGNC:18292]", "omim_id": "605194", "functional_summary": "Mutations in the CFC1 gene cause Visceral Heterotaxy (PMID: 11062482).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1062482E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000136698", "synonym": "CRYPTIC, HTX2", "ortholog_mouse": "Cfc1", "ortholog_xenopus": "cripto.3, tdgf1.2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.1389, "sd_percent_ciliated": 2.4421, "z_score": -0.4689, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0434, "sd_percent_ciliated": -4.0434, "z_score": -4.0434, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CFH", "ensembl_id": "ENSG00000000971", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "complement factor H [Source:HGNC Symbol,Acc:HGNC:4883]", "omim_id": "134370", "functional_summary": "C. elegans CFH homolog localizes on CEP mechanosensory neuron cilia where it has noncanonical roles in maintaining inversin/NPHP-2 within its mesake proximal compartment and preventing inversin/NPHP-2 accumulation in distal cilia compartments in aging adults(33859044).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3859044E7", "complex_components": {}, "pfam_ids": "PF00084", "domain_descriptions": ["Sushi/SCR/CCP domain", "Sushi/SCR/CCP superfamily", "Complement System Regulators and Virion Entry Mediators"], "string_link": "https://string-db.org/network/9606/ENSG00000000971", "synonym": "ARMD4, ARMS1, FHL1, HF, HF1, HF2, HUS", "ortholog_mouse": "Cfh, Cfhr4, Fhl1", "ortholog_xenopus": "cfh, fhl1, LOC100497496, svep1l", "ortholog_zebrafish": "cfh, cfhl1, cfhl2, fhl1a, fhl1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.5693, "sd_percent_ciliated": 9.3588, "z_score": 0.5525 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.292, "sd_percent_ciliated": 0.292, "z_score": 0.292 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8747, "sd_percent_ciliated": -0.8747, "z_score": -0.8747 } ] }, { "gene": "CFL1", "ensembl_id": "ENSG00000172757", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cofilin 1 [Source:HGNC Symbol,Acc:HGNC:1874]", "omim_id": "601442", "functional_summary": "Node cilia are correctly positioned in Cfl1 and Vangl2 single mutants, but cilia remain in the center of the cell in Vangl2 Cfl1 double mutants, leading to randomization of left-right asymmetry ( 23406901).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3406901E7", "complex_components": ["ACTB", "CAP1", "CFL1", "HDAC8", "HSPB6", "ABL1"], "pfam_ids": "PF00241", "domain_descriptions": ["Actin-depolymerising factor homology domain", "ADF/Cofilin", "ADF-H/Gelsolin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000172757", "synonym": "CFL", "ortholog_mouse": "Cfl1", "ortholog_c_elegans": "F53E2.2", "ortholog_xenopus": "cfl1", "ortholog_zebrafish": "cfl1", "ortholog_drosophila": "CG6873, tsr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.8425, "sd_percent_ciliated": 7.4624, "z_score": -0.0202 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 43.2, "sd_percent_ciliated": 43.2, "z_score": 43.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8425, "sd_percent_ciliated": -2.8425, "z_score": -2.8425 } ] }, { "gene": "CFTR", "ensembl_id": "ENSG00000001626", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "CF transmembrane conductance regulator [Source:HGNC Symbol,Acc:HGNC:1884]", "omim_id": "602421", "functional_summary": "CFTR and PC2, partners in the primary cilia in autosomal domi nt polycystic kidney disease. Ablation of CFTR makes cilia longer suggesting that CFTR plays a role there(37519231).", "localization": "cilia, Endosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7519231E7", "complex_components": ["CFTR", "EZR", "NHERF1", "ADRB2", "GOPC", "STX6", "ANO1"], "pfam_ids": ["PF00664", "PF00005", "PF14396"], "domain_descriptions": ["Cystic fibrosis transmembrane conductance regulator", "ABC transporter type 1", "transmembrane domain", "ABC transporter type 1", "transmembrane domain superfamily", "ATP-binding cassette transporter C-like", "ABC transporter-like", "ATP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "AAA+ ATPase domain", "ABC transporter-like", "conserved site", "CFTR regulator domain", "Cystic fibrosis transmembrane conductance regulator", "ATP-binding cassette domain 1"], "string_link": "https://string-db.org/network/9606/ENSG00000001626", "synonym": "ABC35, ABCC7, CF, CFTR/MRP, DJ760C5.1, MRP7, TNR-CFTR", "ortholog_mouse": "Cftr", "ortholog_xenopus": "cftr", "ortholog_zebrafish": "cftr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.9317, "sd_percent_ciliated": 0.9849, "z_score": 0.7175, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.28, "sd_percent_ciliated": 5.28, "z_score": 5.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5817, "sd_percent_ciliated": -5.5817, "z_score": -5.5817, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHD4", "ensembl_id": "ENSG00000111642", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "chromodomain helicase DNA binding protein 4 [Source:HGNC Symbol,Acc:HGNC:1919]", "omim_id": "603277", "functional_summary": "In vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro(PMID: 40552535).", "localization": "Ciliary associated gene, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Transcription regulation", "reference": "40552535, 23056384", "complex_components": ["CHD4", "HDAC1", "HDAC2", "MBD3", "MTA2", "RBBP4", "RBBP7", "MBD2", "GATAD2B", "BCL6", "MTA3", "MTA1", "CHD3", "KDM1A", "GSE1", "GTF2I", "HMG20B", "PHF21A", "RCOR1", "SIN3A", "ZMYM2", "ZMYM3", "ACTB", "ACTL6A", "ARID1A", "DPF2", "HNRNPC", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD2", "SMARCE1", "ATR", "BANF2", "DPY30", "EMD", "H3C1", "HDAC3", "LMNB1", "MED4", "NMI", "RBL1", "RBL2", "SAP18", "SPTAN1", "TBL1XR1", "TBL1Y", "TRIM28", "TWIST1", "CDK2AP1", "GATAD2A", "ZMYND8", "ZNF598", "ACTBL2", "ALYREF", "ARID1B", "ARID2", "BCAS2", "CHD8", "CHERP", "CPSF1", "CPSF6", "CPSF7", "DDX17", "DDX20", "DDX23", "DDX39A", "DDX39B", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "FUS", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPA1", "HNRNPA2B1", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPL", "HNRNPM", "HNRNPR", "HNRNPU", "HTATSF1", "KHSRP", "LSM4", "LUC7L2", "LUC7L3", "MTREX", "NCBP1", "NCBP2", "NUDT21", "PBRM1", "PCBP1", "PCBP2", "PHF5A", "PPIH", "PRPF19", "PRPF3", "PRPF31", "PRPF4", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART1", "SART3", "SCAF4", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B6", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCD1", "SMN1", "SNRNP200", "SNRNP40", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SREK1", "SRRM2", "SRRT", "SRSF1", "SRSF11", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF8", "STRAP", "SYNCRIP", "U2AF1", "U2AF2", "U2SURP", "USP39", "YBX1", "ZCCHC8"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000111642", "synonym": "MI-2B, MI2-BETA", "ortholog_mouse": "Chd4", "ortholog_c_elegans": "chd-3, let-418", "ortholog_xenopus": "chd4", "ortholog_zebrafish": "chd4a, chd4b", "ortholog_drosophila": "Mi-2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.4538, "sd_percent_ciliated": 9.6754, "z_score": -0.0673 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 18.1, "sd_percent_ciliated": 18.1, "z_score": 18.1 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -12.5261, "sd_percent_ciliated": -12.5261, "z_score": -12.5261 } ] }, { "gene": "CHD7", "ensembl_id": "ENSG00000171316", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chromodomain helicase DNA binding protein 7 [Source:HGNC Symbol,Acc:HGNC:20626]", "omim_id": "608892", "functional_summary": "Mutations in the CHD7 gene cause Kallmann syndrome (PMID: 21856375).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Neurogenesis & migration, Cardiac & muscle development", "reference": "21856375 ,21856375", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000171316", "synonym": "CRG, FLJ20357, FLJ20361, KIAA1416", "ciliopathy": "Kallmann syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Chd7", "ortholog_c_elegans": "chd-7", "ortholog_xenopus": "chd7", "ortholog_zebrafish": "chd7", "ortholog_drosophila": "kis", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.5464, "sd_percent_ciliated": 2.3997, "z_score": 0.4286 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3282, "sd_percent_ciliated": -1.3282, "z_score": -1.3282 } ] }, { "gene": "CHD8", "ensembl_id": "ENSG00000100888", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chromodomain helicase DNA binding protein 8 [Source:HGNC Symbol,Acc:HGNC:20153]", "omim_id": "610528", "functional_summary": "CHD8 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ASH2L", "BAP18", "CHD8", "E2F6", "HCFC1", "HSPA4", "INO80C", "KANSL1", "KAT8", "KMT2A", "LAS1L", "MCRS1", "MGAM", "PELP1", "PHF20", "PRPF31", "RBBP5", "RNF2", "RUVBL1", "SENP3", "TAF1", "TAF4", "TAF6", "TAF7", "TAF9", "TEX10", "WDR5", "ACTBL2", "ACTL6A", "ALYREF", "ARID1A", "ARID1B", "ARID2", "BCAS2", "CHD4", "CHERP", "CPSF1", "CPSF6", "CPSF7", "DDX17", "DDX20", "DDX23", "DDX39A", "DDX39B", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "FUS", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPA1", "HNRNPA2B1", "HNRNPC", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPL", "HNRNPM", "HNRNPR", "HNRNPU", "HTATSF1", "KHSRP", "LSM4", "LUC7L2", "LUC7L3", "MTREX", "NCBP1", "NCBP2", "NUDT21", "PBRM1", "PCBP1", "PCBP2", "PHF5A", "PPIH", "PRPF19", "PRPF3", "PRPF4", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM42", "RBM7", "RBMXL2", "RUVBL2", "SART1", "SART3", "SCAF4", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B6", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP200", "SNRNP40", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SREK1", "SRRM2", "SRRT", "SRSF1", "SRSF11", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF8", "STRAP", "SYNCRIP", "U2AF1", "U2AF2", "U2SURP", "USP39", "YBX1", "ZCCHC8"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000100888", "synonym": "DUPLIN, HELSNF1, KIAA1564", "ortholog_mouse": "Chd8", "ortholog_c_elegans": "chd-7", "ortholog_xenopus": "chd8", "ortholog_zebrafish": "chd8", "ortholog_drosophila": "kis", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.7768, "sd_percent_ciliated": 3.158, "z_score": 0.4565, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.17, "sd_percent_ciliated": 2.17, "z_score": 2.17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3949, "sd_percent_ciliated": -0.3949, "z_score": -0.3949, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHFR", "ensembl_id": "ENSG00000072609", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "checkpoint with forkhead and ring finger domains [Source:HGNC Symbol,Acc:HGNC:20455]", "omim_id": "605209", "functional_summary": "The tumor suppressor protein, CHFR, localizes to the base of OSE primary cilia(23351307).", "localization": "basal body,cilia, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.3351307E7", "complex_components": {}, "pfam_ids": ["PF17979", "PF13923", "PF00498"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "Zinc finger", "RING-type", "SMAD/FHA domain superfamily", "Zinc finger", "RING/FYVE/PHD-type", "Zinc finger", "RING-type", "conserved site", "E3 ubiquitin-protein ligase CHFR", "cysteine rich domain with multizinc binding", "E3 ubiquitin-protein ligase CHFR"], "string_link": "https://string-db.org/network/9606/ENSG00000072609", "synonym": "FLJ10796, RNF196", "ortholog_mouse": "Chfr", "ortholog_c_elegans": "R02E12.12", "ortholog_xenopus": "chfr", "ortholog_zebrafish": "chfr", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.4811, "z_score": -1.239, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 29.9473, "z_score": -0.9768, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.6742 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.68, "z_score": 4.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 4.68 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8407, "z_score": -1.8407, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.8407 } ] }, { "gene": "CHMP2A", "ensembl_id": "ENSG00000130724", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "charged multivesicular body protein 2A [Source:HGNC Symbol,Acc:HGNC:30216]", "omim_id": "610893", "functional_summary": "CHMP2A localizes to the ciliary base(31914703).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation", "reference": "3.1914703E7", "complex_components": ["CHMP1A", "CHMP1B", "CHMP2A", "CHMP2B", "CHMP3", "CHMP4A", "CHMP4B", "CHMP4C", "CHMP5", "CHMP6"], "pfam_ids": "PF03357", "domain_descriptions": "Snf7 family", "string_link": "https://string-db.org/network/9606/ENSG00000130724", "synonym": "BC-2, CHMP2, VPS2, VPS2A", "ortholog_mouse": "Chmp2a", "ortholog_c_elegans": "vps-2", "ortholog_xenopus": "chmp2a", "ortholog_zebrafish": "chmp2a", "ortholog_drosophila": "Vps2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.54, "sd_percent_ciliated": 4.54, "z_score": 4.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.1411, "sd_percent_ciliated": -13.1411, "z_score": -13.1411, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHMP4B", "ensembl_id": "ENSG00000101421", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "charged multivesicular body protein 4B [Source:HGNC Symbol,Acc:HGNC:16171]", "omim_id": "610897", "functional_summary": "Subunit of the endosomal sorting complexes required for transport (ESCRT). Localized to primary cilia in mammalian cells. Knockdown of CHMP4B interfered with cilium assembly and also caused fragmentation of preexisting cilia. Morpholino (MO)-mediated CHMP4B depletion in zebrafish embryos induced characteristic phenotypes of ciliary defects such as curved body axis, hydrocephalus, otolith malformation, and kidney cyst (31914703)", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation", "reference": "31914703, 33585461", "complex_components": ["CHMP1A", "CHMP1B", "CHMP2A", "CHMP2B", "CHMP3", "CHMP4A", "CHMP4B", "CHMP4C", "CHMP5", "CHMP6"], "pfam_ids": "PF03357", "domain_descriptions": "Snf7 family", "string_link": "https://string-db.org/network/9606/ENSG00000101421", "synonym": "C20ORF178, DJ553F4.4, SHAX1, SNF7-2, VPS32B", "ortholog_mouse": "Chmp4b", "ortholog_c_elegans": "vps-32.1", "ortholog_xenopus": "chmp4b", "ortholog_zebrafish": "chmp4ba, chmp4bb", "ortholog_drosophila": "shrb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 16.2, "sd_percent_ciliated": 16.2, "z_score": 16.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.151, "sd_percent_ciliated": -8.151, "z_score": -8.151, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHRM2", "ensembl_id": "ENSG00000181072", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cholinergic receptor muscarinic 2 [Source:HGNC Symbol,Acc:HGNC:1951]", "omim_id": "118493", "functional_summary": "CHRM2 has localized in basal body.", "localization": "basal body, Endosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CHRM2", "GPRASP1", "GPRASP2", "SET", "Chrm1", "CHRM3", "RACK1"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Muscarinic acetylcholine receptor family", "Muscarinic acetylcholine receptor M2", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000181072", "ortholog_mouse": "Chrm2", "ortholog_c_elegans": "gar-3", "ortholog_xenopus": "chrm2", "ortholog_zebrafish": "chrm2a, chrm2b", "ortholog_drosophila": "mAChR-A", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 26.7953, "sd_percent_ciliated": 8.9814, "z_score": -1.3587, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.417, "sd_percent_ciliated": 0.417, "z_score": 0.417, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3062, "sd_percent_ciliated": -5.3062, "z_score": -5.3062, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHRM3", "ensembl_id": "ENSG00000133019", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "cholinergic receptor muscarinic 3 [Source:HGNC Symbol,Acc:HGNC:1952]", "omim_id": "118494", "functional_summary": "CHRM3 was localized to primary cilia of endothelial and cerebrovascular cells, and that CHRM3 expression was downregulated in cilialess cells. CHRM3 activation enhanced cilia length and sensory function in terms of eNOS activation (39885271).", "localization": "cilia, Endosome", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Cilia length regulation", "reference": "3.9885271E7", "complex_components": ["Chrm3", "CHRM3", "Chrm1", "CHRM2", "OPRM1", "CHRM5", "PLCB3"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Muscarinic acetylcholine receptor family", "Muscarinic acetylcholine receptor M3", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000133019", "synonym": "M3ACHR", "ortholog_mouse": "Chrm3", "ortholog_c_elegans": "gar-3", "ortholog_xenopus": "chrm3", "ortholog_zebrafish": "chrm3a, chrm3b", "ortholog_drosophila": "mAChR-A", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.6384, "sd_percent_ciliated": 3.9342, "z_score": -0.1661, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.9, "sd_percent_ciliated": 2.9, "z_score": 2.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3975, "sd_percent_ciliated": -5.3975, "z_score": -5.3975, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHRM4", "ensembl_id": "ENSG00000180720", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cholinergic receptor muscarinic 4 [Source:HGNC Symbol,Acc:HGNC:1953]", "omim_id": "118495", "functional_summary": "CHRM4 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CHRM4", "NGF"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000180720", "ortholog_mouse": "Chrm4", "ortholog_c_elegans": "gar-3", "ortholog_xenopus": "chrm4", "ortholog_zebrafish": "chrm4a, chrm4b", "ortholog_drosophila": "mAChR-A", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.0872, "sd_percent_ciliated": 5.8398, "z_score": -0.4752, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.371, "sd_percent_ciliated": 0.371, "z_score": 0.371, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.9538, "sd_percent_ciliated": -3.9538, "z_score": -3.9538, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CHRNA3", "ensembl_id": "ENSG00000080644", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cholinergic receptor nicotinic alpha 3 subunit [Source:HGNC Symbol,Acc:HGNC:1957]", "omim_id": "118503", "functional_summary": "CHR3 has localized in ciliary tip, basal body ,transition zone.", "localization": "cilia ,basal body ,transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CHRNA3", "P2RX2", "CHRNB2", "CHRNA5", "CHRNB4"], "pfam_ids": ["PF02932", "PF02931"], "domain_descriptions": ["Nicotinic acetylcholine receptor", "Neurotransmitter-gated ion-channel transmembrane domain", "Neurotransmitter-gated ion-channel", "Neurotransmitter-gated ion-channel ligand-binding domain", "Neurotransmitter-gated ion-channel", "conserved site", "Neurotransmitter-gated ion-channel transmembrane domain superfamily", "Neurotransmitter-gated ion-channel ligand-binding domain superfamily", "Neuronal acetylcholine receptor"], "string_link": "https://string-db.org/network/9606/ENSG00000080644", "ortholog_mouse": "Chrna3", "ortholog_c_elegans": "unc-38", "ortholog_xenopus": "chrna3l", "ortholog_zebrafish": "chrna3", "ortholog_drosophila": "nAChRα3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 49.9636, "sd_percent_ciliated": 1.7485, "z_score": 1.4483, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.6, "sd_percent_ciliated": 1.6, "z_score": 1.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.3625, "sd_percent_ciliated": -13.3625, "z_score": -13.3625, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CIB2", "ensembl_id": "ENSG00000136425", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "calcium and integrin binding family member 2 [Source:HGNC Symbol,Acc:HGNC:24579]", "omim_id": "605564", "functional_summary": "ADGRV1 and CIB2 interact and localize to the ciliary region of photoreceptor cells(37427378).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "37427378, 23023331", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Calcium and Integrin-Binding"], "string_link": "https://string-db.org/network/9606/ENSG00000136425", "synonym": "DFNB48, KIP2, USH1J", "ortholog_mouse": "Cib2", "ortholog_c_elegans": "calm-1", "ortholog_xenopus": "cib2", "ortholog_zebrafish": "cib2", "ortholog_drosophila": "Cib2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.3462, "sd_percent_ciliated": 5.1673, "z_score": -0.2015, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.77, "sd_percent_ciliated": 1.77, "z_score": 1.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7756, "sd_percent_ciliated": -0.7756, "z_score": -0.7756, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CIBAR1", "ensembl_id": "ENSG00000188343", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not reported", "description": "CBY1 interacting BAR domain containing 1 [Source:HGNC Symbol,Acc:HGNC:30452]", "omim_id": "617273", "functional_summary": "Interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes, inducing the formation of membrane globule like structures, which contain Rab8 (27528616). Mutated in nonsyndromic postaxial polydactyly. Role in limb development (30395363).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "27528616, 39622622", "complex_components": {}, "pfam_ids": "PF06730", "domain_descriptions": ["CBY1-interacting BAR domain-containing protein/FAM92", "AH/BAR domain superfamily", "CBY1-interacting BAR domain-containing protein 1/2", "BAR domain"], "string_link": "https://string-db.org/network/9606/ENSG00000188343", "synonym": "BARMR1, FAM92A, FAM92A1, FLJ38979", "ortholog_mouse": "Cibar1", "ortholog_xenopus": "cibar1", "ortholog_zebrafish": "cibar1", "ortholog_drosophila": "Fam92", "screens": {} }, { "gene": "CIBAR2", "ensembl_id": "ENSG00000153789", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CBY1 interacting BAR domain containing 2 [Source:HGNC Symbol,Acc:HGNC:24781]", "omim_id": "617274", "functional_summary": "Cby1-interacting partner to promote ciliogenesis through regulation of membrane- remodeling processes, inducing the formation of membrane tubule like structures, which contain Rab8 (27528616).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "3.09054E7", "complex_components": {}, "pfam_ids": "PF06730", "domain_descriptions": ["CBY1-interacting BAR domain-containing protein/FAM92", "AH/BAR domain superfamily", "CBY1-interacting BAR domain-containing protein 1/2", "BAR domain"], "string_link": "https://string-db.org/network/9606/ENSG00000153789", "synonym": "FAM92B, FLJ44299", "ortholog_mouse": "Cibar2", "ortholog_xenopus": "cibar2", "ortholog_drosophila": "Fam92", "screens": {} }, { "gene": "CILK1", "ensembl_id": "ENSG00000112144", "overexpression_effects": "Not reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not reported", "description": "ciliogenesis associated kinase 1 [Source:HGNC Symbol,Acc:HGNC:21219]", "omim_id": "612325", "functional_summary": "Also known as ICK. Regulator of ciliary transport through regulation of BBS proteins and IFT-B localisation. Loss of ICK causes accumulation of IFT-A, IFT-B, and BBSome components at the ciliary tips. It is a Kif3a ki se essential for proper ciliogenesis (24797473, 25243405). Involved in the negative control of ciliary length, abnormal ICK function results in the mislocalisation of key mediators for Shh (24853502, 25243405). Anterograde tafficking of CILK is essential for retrograde IFT (32732286)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "24797473, 24853502, 25243405, 32732286, 35897693 ,29539279, 32178256", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000112144", "synonym": "ICK, KIAA0936, LCK2, MGC46090, MRK", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cilk1", "ortholog_c_elegans": "dyf-5", "ortholog_xenopus": "cilk1", "ortholog_drosophila": "CG42366", "screens": {} }, { "gene": "CIMAP1A", "ensembl_id": "ENSG00000177947", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary microtubule associated protein 1A [Source:HGNC Symbol,Acc:HGNC:19905]", "omim_id": "608356", "functional_summary": "ODF3 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF07004", "domain_descriptions": ["Sperm-tail PG-rich repeat", "Ciliary Microtubule Associated"], "string_link": "https://string-db.org/network/9606/ENSG00000177947", "synonym": "CT135, HSHIPPO, ODF3, SHIPPO1", "ortholog_mouse": "Cimap1a", "ortholog_xenopus": "cimap1a", "ortholog_zebrafish": "cimap1b", "ortholog_drosophila": "CG10252", "screens": {} }, { "gene": "CIMAP1D", "ensembl_id": "ENSG00000181781", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CIMAP1 family member D [Source:HGNC Symbol,Acc:HGNC:26841]", "functional_summary": "ankef1a, odf3l2a, and saxo2 have distinct distribution patterns within the kinocilium (37367482).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.7367482E7", "complex_components": {}, "pfam_ids": "PF07004", "domain_descriptions": ["Sperm-tail PG-rich repeat", "Ciliary Microtubule Associated"], "string_link": "https://string-db.org/network/9606/ENSG00000181781", "synonym": "C19ORF19, FLJ40059, ODF3L2", "ortholog_mouse": "Cimap1d", "ortholog_xenopus": "cimap1c", "ortholog_zebrafish": "cimap1d, odf3l2a", "ortholog_drosophila": "CG10252", "screens": {} }, { "gene": "CIMAP3", "ensembl_id": "ENSG00000173947", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary microtubule associated protein 3 [Source:HGNC Symbol,Acc:HGNC:27009]", "omim_id": "614234", "functional_summary": "Controls cilia retraction as well as the liberation and duplication of the basal body/centrosome during primary cilia disassembly. Enhances AurA Activation and regulates left-right asymmetry. Mutations cause cilia retraction, basal body detachment and overreplication defects (20643351). Critical component of the Smo ciliary targeting complex and Hh pathway activation (26901434).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "28775150 ,20643351", "complex_components": {}, "pfam_ids": "PF07004", "domain_descriptions": ["Sperm-tail PG-rich repeat", "Ciliary microtubule-associated protein 3"], "string_link": "https://string-db.org/network/9606/ENSG00000173947", "synonym": "C1ORF88, FLJ23853, PIFO, PITCHFORK", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cimap3", "ortholog_xenopus": "cimap3", "ortholog_zebrafish": "si:ch211-66i15.4", "screens": {} }, { "gene": "CIMIP1", "ensembl_id": "ENSG00000124237", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary microtubule inner protein 1 [Source:HGNC Symbol,Acc:HGNC:16216]", "omim_id": "619277", "functional_summary": "C20orf85 localized to flagella (25613900)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF14945", "domain_descriptions": "Ciliary microtubule inner protein 1-like", "string_link": "https://string-db.org/network/9606/ENSG00000124237", "synonym": "BA196N14.1, C20ORF85, LLC1", "ortholog_mouse": "Cimip1", "ortholog_xenopus": "cimip1", "screens": {} }, { "gene": "CIMIP2A", "ensembl_id": "ENSG00000188163", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary microtubule inner protein 2A [Source:HGNC Symbol,Acc:HGNC:33818]", "functional_summary": "FAM166A has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF10629", "domain_descriptions": ["Ciliary microtubule inner protein 2A-C-like domain", "Ciliary Microtubule Inner Protein 2A"], "string_link": "https://string-db.org/network/9606/ENSG00000188163", "synonym": "FAM166A", "ortholog_mouse": "Cimip2a", "ortholog_xenopus": "LOC116406623", "screens": {} }, { "gene": "CIMIP2B", "ensembl_id": "ENSG00000215187", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary microtubule inner protein 2B [Source:HGNC Symbol,Acc:HGNC:34242]", "functional_summary": "Fam166b and Ccdc33 were found to be strongly restricted to the ciliary axoneme (29180514).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.9180514E7", "complex_components": {}, "pfam_ids": "PF10629", "domain_descriptions": "Ciliary microtubule inner protein 2A-C-like domain", "string_link": "https://string-db.org/network/9606/ENSG00000215187", "synonym": "FAM166B", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cimip2b", "ortholog_xenopus": "cimip2b", "ortholog_zebrafish": "cimip2b", "ortholog_drosophila": "CG18335", "screens": {} }, { "gene": "CIMIP5", "ensembl_id": "ENSG00000150873", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary microtubule inner protein 5 [Source:HGNC Symbol,Acc:HGNC:26324]", "functional_summary": "C2ORF50 was found to be enriched along the length of motile cilia (38538594).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.8538594E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000150873", "synonym": "C2ORF50, FLJ25143", "ortholog_mouse": "Cimip5", "ortholog_xenopus": "cimip5", "ortholog_zebrafish": "cimip5", "screens": {} }, { "gene": "CIP2A", "ensembl_id": "ENSG00000163507", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia number", "description": "cellular inhibitor of PP2A [Source:HGNC Symbol,Acc:HGNC:29302]", "omim_id": "610643", "functional_summary": "Promotes primary cilia disassembly through the activation of Aurora A ki se. Depletion increases ciliated cells and cilia length in reti l pigment epithelium cells. CIP2A enhances NEK2 ki se activity to facilitate centrosome separation. It plays a role in c-MYC stabilization and metabolic reprogramming toward the glycolytic pathway (PMID 29491003)", "localization": "transition zone , cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Transition zone, Cilia length regulation", "reference": "2.9491003E7", "complex_components": {}, "pfam_ids": "PF21044", "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "Protein CIP2A", "CIP2A", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000163507", "synonym": "KIAA1524", "ortholog_mouse": "Cip2a", "ortholog_c_elegans": "B0432.7", "ortholog_xenopus": "cip2a", "ortholog_zebrafish": "cip2a", "ortholog_drosophila": "CG12702", "screens": {} }, { "gene": "CIT", "ensembl_id": "ENSG00000122966", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "citron rho-interacting serine/threonine kinase [Source:HGNC Symbol,Acc:HGNC:1985]", "omim_id": "605629", "functional_summary": "CK2α interacts with CIT-K, localizes at the midbody through CIT-K and affects cytokinesis through TUBB3 S444 phosphorylation. Asynchronous HeLa cells were processed for immunofluorescence using the anti-CK2α and anti-Citron antibodies. The two proteins colocalize at the midbody of late telophase cells. Asynchronous HeLa cells were processed for immunofluorescence 48 h after transfection with the indicated siR s using the anti-CK2α and anti-α-tubulin (α-TUB). The region containing the midbody of two dividing cells was magnified in the inset( 26586574).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transcription regulation", "reference": "2.6586574E7", "complex_components": {}, "pfam_ids": ["PF00069", "PF00433", "PF00780", "PF00169"], "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Citron homology (CNH) domain", "Pleckstrin homology domain", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PH-like domain superfamily", "Citron Rho-interacting kinase", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "Citron Rho-interacting kinase", "catalytic domain", "C1-like domain superfamily", "Rho-associated Serine/Threonine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000122966", "synonym": "CITK, CRIK, KIAA0949, STK21", "ortholog_mouse": "Cit", "ortholog_c_elegans": "citk-2", "ortholog_xenopus": "cit", "ortholog_zebrafish": "cita", "ortholog_drosophila": "sti", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.2702, "z_score": 0.2446, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.8971, "z_score": 1.5614, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.3588 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.15, "z_score": 1.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.15 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.959, "z_score": -2.959, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.959 } ] }, { "gene": "CKAP2", "ensembl_id": "ENSG00000136108", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "cytoskeleton associated protein 2 [Source:HGNC Symbol,Acc:HGNC:1990]", "omim_id": "611569", "functional_summary": "CKAP2, where localization to the cilium and part of the microtubule cytoskeleton were seen in some cells, and localization to vesicles in other cells (PMID: 40654709).", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "4.0654709E7", "complex_components": {}, "pfam_ids": "PF15297", "domain_descriptions": ["Cytoskeleton-associated protein 2 family", "Cytoskeleton-associated protein 2", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000136108", "synonym": "FLJ10749, LB1, SE20-10, TMAP", "ortholog_mouse": "Ckap2", "ortholog_xenopus": "ckap2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.2486, "sd_percent_ciliated": 6.7388, "z_score": 0.3925 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.69, "sd_percent_ciliated": 4.69, "z_score": 4.69 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.9935, "sd_percent_ciliated": 0.9935, "z_score": 0.9935 } ] }, { "gene": "CKAP2L", "ensembl_id": "ENSG00000169607", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytoskeleton associated protein 2 like [Source:HGNC Symbol,Acc:HGNC:26877]", "omim_id": "616174", "functional_summary": "The reciprocal ciliary localization patterns of CKAP2L and DHX56 highlighting region-specific variations in ciliary composition between the dorsal and ventral brain regions., CKAP2L has localized in cilia (PMID: 40654709).", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "4.0654709E7", "complex_components": {}, "pfam_ids": "PF15297", "domain_descriptions": ["Cytoskeleton-associated protein 2", "C-terminal", "Cytoskeleton-associated protein 2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000169607", "synonym": "FLJ40629, RADMIS", "ortholog_mouse": "Ckap2l", "ortholog_xenopus": "ckap2l", "ortholog_zebrafish": "ckap2l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.67, "sd_percent_ciliated": 1.67, "z_score": 1.67, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.1635, "sd_percent_ciliated": -5.1635, "z_score": -5.1635, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CKAP5", "ensembl_id": "ENSG00000175216", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytoskeleton associated protein 5 [Source:HGNC Symbol,Acc:HGNC:28959]", "omim_id": "611142", "functional_summary": "CKAP5 has localized in basal body.", "localization": "cilia,basal body, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AURKA", "CKAP5", "TACC1"], "pfam_ids": ["PF21041", "PF12348", "PF02985"], "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "HEAT", "type 2", "CLASP N-terminal domain", "TOG domain", "XMAP215", "XMAP215/Dis1/CLASP", "TOG domain", "HEAT repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000175216", "synonym": "CH-TOG, KIAA0097, TOG, TOGP", "ortholog_mouse": "Ckap5", "ortholog_c_elegans": "F54A3.2, zyg-9", "ortholog_xenopus": "ckap5", "ortholog_zebrafish": "ckap5", "ortholog_drosophila": "msps", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.5952, "sd_percent_ciliated": 6.4986, "z_score": 1.0402 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.29, "sd_percent_ciliated": 3.29, "z_score": 3.29 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -11.5749, "sd_percent_ciliated": -11.5749, "z_score": -11.5749 } ] }, { "gene": "CKB", "ensembl_id": "ENSG00000166165", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "creatine kinase B [Source:HGNC Symbol,Acc:HGNC:1991]", "omim_id": "123280", "functional_summary": "Ckb and Ybx2 occurs at the axoneme of multi-cilia on the embryonic epithelium of Xenopus laevis(36508087).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.6508087E7", "complex_components": ["ACTB", "API5", "C1QBP", "CKB", "DDX39A", "EMD", "H1-1", "HDGF", "HNRNPK", "HNRNPL", "HNRNPU", "ILF3", "IQGAP1", "LEMD3", "LMNB1", "LSM8", "NMI", "PDCD4", "RBL2", "SNRPD1", "THRA", "YWHAE", "YWHAQ"], "pfam_ids": ["PF00217", "PF02807"], "domain_descriptions": ["ATP:guanido phosphotransferase", "Glutamine synthetase/guanido kinase", "catalytic domain", "ATP:guanido phosphotransferase", "N-terminal", "ATP:guanido phosphotransferase", "catalytic domain", "ATP:guanido phosphotransferase active site", "ATP:guanido phosphotransferase", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000166165", "synonym": "CKBB", "ortholog_mouse": "Ckb", "ortholog_c_elegans": "argk-1, F32B5.1, F46H5.3, W10C8.5, ZC434.8", "ortholog_xenopus": "ckb", "ortholog_zebrafish": "ckba, ckbb", "ortholog_drosophila": "Argk1, Argk2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.2971, "sd_percent_ciliated": 8.6959, "z_score": -1.0555 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.285, "sd_percent_ciliated": 0.285, "z_score": 0.285 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2374, "sd_percent_ciliated": -1.2374, "z_score": -1.2374 } ] }, { "gene": "CKLF", "ensembl_id": "ENSG00000217555", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chemokine like factor [Source:HGNC Symbol,Acc:HGNC:13253]", "omim_id": "616074", "functional_summary": "CKLF has localized in flagella.", "localization": "flagella", "functional_category": "Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000217555", "synonym": "C32, CKLF1, CKLF3, CKLF4, HSPC224, UCK-1", "ortholog_mouse": "Cklf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.7446, "sd_percent_ciliated": 6.5167, "z_score": 0.0891 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 } ] }, { "gene": "CLCC1", "ensembl_id": "ENSG00000121940", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chloride channel CLIC like 1 [Source:HGNC Symbol,Acc:HGNC:29675]", "omim_id": "617539", "functional_summary": "Mutations in the CLCC1 gene cause Retinitis Pigmentosa (PMID: 30157172).", "localization": "Ciliary associated gene, Endoplasmic, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30157172 ,30157172", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000121940", "synonym": "MCLC", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Clcc1", "ortholog_xenopus": "clcc1", "ortholog_zebrafish": "clcc1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.53, "sd_percent_ciliated": 3.53, "z_score": 3.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4415, "sd_percent_ciliated": -3.4415, "z_score": -3.4415, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLCN2", "ensembl_id": "ENSG00000114859", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chloride voltage-gated channel 2 [Source:HGNC Symbol,Acc:HGNC:2020]", "omim_id": "600570", "functional_summary": "Mutations in the CLCN2 gene cause Juvenile Myoclonic Epilepsy (PMID: 19710717).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "19710717 ,19710717", "complex_components": ["CLCN2", "SCNN1G"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000114859", "synonym": "CLC-2, CLC2, EJM6", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Clcn2", "ortholog_c_elegans": "clh-2, clh-3, clh-4", "ortholog_xenopus": "clcn2", "ortholog_zebrafish": "clcn2a, clcn2b, clcn2c", "ortholog_drosophila": "ClC-a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.5673, "sd_percent_ciliated": 0.8552, "z_score": 1.158 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.78, "sd_percent_ciliated": 2.78, "z_score": 2.78 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.2261, "sd_percent_ciliated": -7.2261, "z_score": -7.2261 } ] }, { "gene": "CLCN4", "ensembl_id": "ENSG00000073464", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chloride voltage-gated channel 4 [Source:HGNC Symbol,Acc:HGNC:2022]", "omim_id": "302910", "functional_summary": "Ion channel gene required for ciliogenesis.Mutations cause defects in cilia structure. Potential new candidate in human ciliopathies (26546361)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6546361E7", "complex_components": {}, "pfam_ids": ["PF00571", "PF00654"], "domain_descriptions": ["CBS domain", "Chloride channel", "Chloride channel ClC-4", "Chloride channel", "core", "CBS domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000073464", "synonym": "CLC-4, CLC4", "ortholog_mouse": "Clcn4", "ortholog_c_elegans": "clh-5", "ortholog_xenopus": "clcn4", "ortholog_zebrafish": "clcn4", "ortholog_drosophila": "ClC-c", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.3879, "sd_percent_ciliated": 0.4967, "z_score": 0.4093, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9182, "sd_percent_ciliated": -4.9182, "z_score": -4.9182, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLDN2", "ensembl_id": "ENSG00000165376", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "claudin 2 [Source:HGNC Symbol,Acc:HGNC:2041]", "functional_summary": "Responsible for the + and H2O permeability of the tight junctions and despite being a ciliary protein, it is not necessary for ciliogenesis. Claudin-2 is associated to acetylated α-tubulin (22143774)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.2143774E7", "complex_components": {}, "pfam_ids": "PF00822", "domain_descriptions": ["PMP-22/EMP/MP20/Claudin", "Claudin-2", "Claudin", "Claudin", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000165376", "ortholog_mouse": "Cldn2", "ortholog_xenopus": "cldn2", "ortholog_zebrafish": "cldn2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.1857, "sd_percent_ciliated": 8.4641, "z_score": 0.506 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0877, "sd_percent_ciliated": 0.0877, "z_score": 0.0877 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.8192, "sd_percent_ciliated": -4.8192, "z_score": -4.8192 } ] }, { "gene": "CLGN", "ensembl_id": "ENSG00000153132", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "calmegin [Source:HGNC Symbol,Acc:HGNC:2060]", "omim_id": "601858", "functional_summary": "CLGN has localized in flagella.", "localization": "flagella, Endoplasmic, Nucleus", "functional_category": "Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00262", "domain_descriptions": ["Calreticulin/calnexin", "Calreticulin/calnexin", "P domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "Calreticulin/calnexin", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000153132", "ortholog_mouse": "Clgn", "ortholog_c_elegans": "cnx-1", "ortholog_xenopus": "clgn", "ortholog_zebrafish": "clgn", "ortholog_drosophila": "CG1924, Cnx14D, Cnx99A", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.33, "sd_percent_ciliated": 3.8841, "z_score": 1.0081, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.547, "sd_percent_ciliated": 0.547, "z_score": 0.547, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9365, "sd_percent_ciliated": -1.9365, "z_score": -1.9365, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLIC4", "ensembl_id": "ENSG00000169504", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chloride intracellular channel 4 [Source:HGNC Symbol,Acc:HGNC:13518]", "omim_id": "606536", "functional_summary": "CLIC4 has localized in flagella.", "localization": "flagella, Centrosome, Cytosol, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF22441", "PF13410"], "domain_descriptions": ["Intracellular chloride channel", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "CLIC", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000169504", "synonym": "CLIC4L, DKFZP566G223, H1, HUH1, P64H1", "ortholog_mouse": "Clic4", "ortholog_c_elegans": "exc-4, exl-1", "ortholog_xenopus": "clic4", "ortholog_zebrafish": "clic4", "ortholog_drosophila": "Clic", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.8469, "sd_percent_ciliated": 4.4591, "z_score": -0.0197 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.663, "sd_percent_ciliated": 0.663, "z_score": 0.663 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3584, "sd_percent_ciliated": -3.3584, "z_score": -3.3584 } ] }, { "gene": "CLIC5", "ensembl_id": "ENSG00000112782", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chloride intracellular channel 5 [Source:HGNC Symbol,Acc:HGNC:13517]", "omim_id": "607293", "functional_summary": "Clic5 in regulating essential ciliary functions and identified Clic5 as a positive regulator of ERM phosphorylation. knockdown of Clic5a resulted in leakiness of the glomerular filtration barrier, Clic5b deficient embryos displayed defective ciliogenesis, leading to ciliopathy-associated phenotypes such as ventral body curvature, otolith deposition defects, altered left鈥搑ight asymmetry and formation of hydrocephalus and pronephric cysts(37848494).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7848494E7", "complex_components": ["CLIC5", "EZR", "PODXL"], "pfam_ids": ["PF22441", "PF13410"], "domain_descriptions": ["Intracellular chloride channel", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "CLIC", "N-terminal domain", "Glutathione S-transferase", "C-terminal-like", "CLIC5", "C-terminal GST domain"], "string_link": "https://string-db.org/network/9606/ENSG00000112782", "synonym": "DFNB102", "ortholog_mouse": "Clic5", "ortholog_c_elegans": "exc-4", "ortholog_xenopus": "clic5", "ortholog_zebrafish": "clic5a, clic5b", "ortholog_drosophila": "Clic", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.3227, "sd_percent_ciliated": 4.5049, "z_score": 1.0072, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0635, "sd_percent_ciliated": 0.0635, "z_score": 0.0635, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3365, "sd_percent_ciliated": 0.3365, "z_score": 0.3365, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLIP1", "ensembl_id": "ENSG00000130779", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CAP-Gly domain containing linker protein 1 [Source:HGNC Symbol,Acc:HGNC:10461]", "omim_id": "179838", "functional_summary": "CLIP1 has localized in flagella.", "localization": "flagella, Centrosome, Cytosol, Microtubules", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["APC", "CLIP1", "IQGAP1"], "pfam_ids": ["PF16641", "PF01302"], "domain_descriptions": ["CAP Gly-rich domain", "CLIP1", "zinc knuckle", "CAP Gly-rich domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000130779", "synonym": "CLIP, CLIP-170, CLIP170, CYLN1, RSN", "ortholog_mouse": "Clip1", "ortholog_xenopus": "clip1", "ortholog_zebrafish": "clip1a, clip1b", "ortholog_drosophila": "CLIP-190", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.6771, "sd_percent_ciliated": -10.6771, "z_score": -10.6771, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLNS1A", "ensembl_id": "ENSG00000074201", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chloride nucleotide-sensitive channel 1A [Source:HGNC Symbol,Acc:HGNC:2080]", "omim_id": "602158", "functional_summary": "CLNS1A has localized in cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CLNS1A", "PRMT5", "SNRPD1", "SNRPD3", "SNRPB", "DDX20", "GEMIN2", "GEMIN4", "SMN1", "SNRPD2", "SNRPE", "SNRPF", "SNRPG", "WDR77", "AR"], "pfam_ids": "PF03517", "domain_descriptions": ["ICln", "PH-like domain superfamily", "Protein ICln/Lot5/Saf5"], "string_link": "https://string-db.org/network/9606/ENSG00000074201", "synonym": "CLCI, ICLN", "ortholog_mouse": "Clns1a", "ortholog_c_elegans": "icln-1", "ortholog_xenopus": "clns1a", "ortholog_zebrafish": "clns1a", "ortholog_drosophila": "icln", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.0769, "sd_percent_ciliated": 4.3514, "z_score": 0.614 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.99, "sd_percent_ciliated": 3.99, "z_score": 3.99 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6265, "sd_percent_ciliated": -5.6265, "z_score": -5.6265 } ] }, { "gene": "CLRN1", "ensembl_id": "ENSG00000163646", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not reported", "description": "clarin 1 [Source:HGNC Symbol,Acc:HGNC:12605]", "omim_id": "606397", "functional_summary": "Knockdown of clarin-1 resulted in inhibition of FM1-43 incorporation, shortening of the kinocilia, and mislocalization of ribeye b clusters and in vivo interaction between clarin-1 and Pcdh15a is observed(PMID: 25365995).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "2.5365995E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000163646", "synonym": "RP61, USH3, USH3A", "ortholog_mouse": "Clrn1", "ortholog_c_elegans": "Y67D8C.22", "ortholog_xenopus": "clrn1", "ortholog_zebrafish": "clrn1", "ortholog_drosophila": "CG1103", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.68, "sd_percent_ciliated": 1.68, "z_score": 1.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8861, "sd_percent_ciliated": -1.8861, "z_score": -1.8861, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLTC", "ensembl_id": "ENSG00000141367", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "clathrin heavy chain [Source:HGNC Symbol,Acc:HGNC:2092]", "omim_id": "118955", "functional_summary": "CLTC has localized in flagella.", "localization": "flagella, Cytosol, Endosome", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/ ,32811879", "complex_components": ["ACAP1", "CLTC", "SLC2A4", "AP3B1", "ARHGEF1", "ARHGEF2", "CAPZA1", "CAPZB", "DNM2", "DOCK7", "FKBP15", "NEDD4", "PI4K2A", "WASHC2A", "WASHC4", "WASHC5", "HERC1", "HSPA1A", "SYK"], "pfam_ids": ["PF00637", "PF09268", "PF01394", "PF13838"], "domain_descriptions": ["Clathrin", "heavy chain/VPS", "7-fold repeat", "Tetratricopeptide-like helical domain superfamily", "Clathrin", "heavy chain", "linker", "Clathrin", "heavy chain", "linker", "core motif", "Armadillo-type fold", "Clathrin heavy chain", "N-terminal", "Clathrin", "heavy chain", "Clathrin", "heavy chain", "propeller repeat", "Clathrin heavy-chain repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000141367", "synonym": "CLTCL2, HC", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cltc", "ortholog_c_elegans": "chc-1", "ortholog_xenopus": "cltc", "ortholog_zebrafish": "cltca, cltcb", "ortholog_drosophila": "Chc", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.6279, "z_score": 0.3562, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 43.8082, "z_score": 0.7026, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 15.2543 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12.4, "z_score": 12.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 12.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.609, "z_score": -4.609, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.609 } ] }, { "gene": "CLUAP1", "ensembl_id": "ENSG00000103351", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "clusterin associated protein 1 [Source:HGNC Symbol,Acc:HGNC:19009]", "omim_id": "616787", "functional_summary": "Cilia protein required for cilia formation. Key regulator of hedgehog sig ling and as an intraflagellar transport B complex protein involved in anterograde and retrograde cilia transport. Deletion of Cluap1 causes a total loss of cilia within the developing embryo in mice (23351563, 31554018, 23742838). Role in cilia assembly and mainte nce, intracellular transport processes and cytoskeletal rearrangement by its interactions with TRIP6, which is suggested to be an actin and migration- modulating factor (29615496 )", "localization": "basal body, cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "23351563, 29615496, 31554018, 23742838, 23742838", "complex_components": {}, "pfam_ids": "PF10234", "domain_descriptions": "Clusterin-associated protein-1", "string_link": "https://string-db.org/network/9606/ENSG00000103351", "synonym": "CFAP22, FAP22, FLJ13297, IFT38, KIAA0643", "ortholog_mouse": "Cluap1", "ortholog_c_elegans": "dyf-3", "ortholog_xenopus": "cluap1", "ortholog_zebrafish": "cluap1", "ortholog_drosophila": "Cluap1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 73.8, "sd_percent_ciliated": 73.8, "z_score": 73.8, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.1528, "sd_percent_ciliated": -7.1528, "z_score": -7.1528, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CLXN", "ensembl_id": "ENSG00000034239", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "calaxin [Source:HGNC Symbol,Acc:HGNC:25678]", "omim_id": "619564", "functional_summary": "Mice with a null mutation in Efcab1, which encodes calaxin, display typical phenotypes of primary ciliary dyskinesia, including hydrocephalus, situs inversus, and abnormal motility of trachea cilia and sperm flagella. The 9 + 2 axonemal structures of epithelial multicilia and sperm flagella are normal, but the formation of 9 + 0 nodal cilia is significantly disrupted. Knockout of calaxin in zebrafish also causes situs inversus due to the irregular ciliary beating of Kupffer鈥檚 vesicle cilia, although the 9 + 2 axonemal structure appears to remain normal(31240264)., CLXN is an outer dynein arm-docking complex鈥揳ssociated component. CLXN functions as an ODA-DC subunit in human respiratory cilia especially involved in the docking of distal type 2 ODAs(36727596).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "31240264, 36727596, 36727596 ,36727596; 31240264", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Recoverin family"], "string_link": "https://string-db.org/network/9606/ENSG00000034239", "synonym": "EFCAB1, FLJ11767, ODAD5", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Clxn", "ortholog_xenopus": "clxn", "ortholog_zebrafish": "clxn", "ortholog_drosophila": "CG15177, CG2256, CG3565, d-cup, sowi, sunz", "screens": {} }, { "gene": "CNBD2", "ensembl_id": "ENSG00000149646", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cyclic nucleotide binding domain containing 2 [Source:HGNC Symbol,Acc:HGNC:16145]", "functional_summary": "CNBD2 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00027", "domain_descriptions": ["Cyclic nucleotide-binding domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000149646", "synonym": "C20ORF152, CNMPD1, DJ954P9.1", "ortholog_mouse": "Cnbd2", "ortholog_xenopus": "cnbd2", "ortholog_drosophila": "CG12698, CG14693, CG8958", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CNGA1", "ensembl_id": "ENSG00000198515", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cyclic nucleotide gated channel subunit alpha 1 [Source:HGNC Symbol,Acc:HGNC:2148]", "omim_id": "123825", "functional_summary": "Subunit of the cyclic nucleotide-gated (Cng) channel localised to the outer segment. Mutations in Cnga1 which have been associated with retinitis pigmentosa in humans (25319694)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "25319694, 7479749", "complex_components": {}, "pfam_ids": ["PF00520", "PF16526", "PF00027"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "Ion transport domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "Cyclic nucleotide-gated channel", "C-terminal leucine zipper domain", "Cyclic nucleotide-gated cation channel"], "string_link": "https://string-db.org/network/9606/ENSG00000198515", "synonym": "CNCG, CNCG1, CNG1, RCNC1, RCNCA, RP49", "ortholog_mouse": "Cnga1", "ortholog_c_elegans": "che-6, cng-1, cng-2, cng-3, tax-4", "ortholog_xenopus": "cnga1", "ortholog_zebrafish": "cnga1a, cnga1b", "ortholog_drosophila": "CngA", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.5263, "sd_percent_ciliated": 7.3212, "z_score": 0.5473, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.439, "sd_percent_ciliated": 0.439, "z_score": 0.439, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.84, "sd_percent_ciliated": -6.84, "z_score": -6.84, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CNGA2", "ensembl_id": "ENSG00000183862", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cyclic nucleotide gated channel subunit alpha 2 [Source:HGNC Symbol,Acc:HGNC:2149]", "omim_id": "300338", "functional_summary": "Principal subunit of heteromeric olfactory CNG channels and homomeric CNGA2 channels in nonmotile cilia on olfactory sensory neurons (ORNs). N-terminus of CNGA2 are necessary for PIP3 regulation. In absence of CNGB1, it does assemble and form functio l heteromeric channels in ORNs (17032767)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "17032767, 25500808", "complex_components": {}, "pfam_ids": ["PF16526", "PF00027", "PF00520"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "Ion transport domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "Cyclic nucleotide-gated channel", "C-terminal leucine zipper domain", "Cyclic nucleotide-gated cation channel"], "string_link": "https://string-db.org/network/9606/ENSG00000183862", "synonym": "CNCA, CNCA1, CNG2, FLJ46312, OCNC1, OCNCA, OCNCALPHA", "ortholog_mouse": "Cnga2", "ortholog_c_elegans": "che-6, cng-1, cng-2, cng-3, tax-4", "ortholog_xenopus": "cnga2", "ortholog_zebrafish": "cnga2a, cnga2b", "ortholog_drosophila": "CngA", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5278, "sd_percent_ciliated": 0.9363, "z_score": -0.4218, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.621, "sd_percent_ciliated": 0.621, "z_score": 0.621, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1518, "sd_percent_ciliated": -0.1518, "z_score": -0.1518, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CNGA3", "ensembl_id": "ENSG00000144191", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cyclic nucleotide gated channel subunit alpha 3 [Source:HGNC Symbol,Acc:HGNC:2150]", "omim_id": "600053", "functional_summary": "CNGA3 localized to flagella (25613900)", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25613900 ,23329832", "complex_components": ["CNGA3", "CNGB3"], "pfam_ids": ["PF16526", "PF00027", "PF00520"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "Ion transport domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "Cyclic nucleotide-gated channel", "C-terminal leucine zipper domain", "Cyclic nucleotide-gated cation channel"], "string_link": "https://string-db.org/network/9606/ENSG00000144191", "synonym": "ACHM2, CCNC1, CCNCA, CNCG3, CNG3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cnga3", "ortholog_c_elegans": "che-6, cng-1, cng-2, cng-3, tax-4", "ortholog_xenopus": "cnga3", "ortholog_zebrafish": "cnga3a", "ortholog_drosophila": "CngA", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.4111, "sd_percent_ciliated": 0.0444, "z_score": 1.5026 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.483, "sd_percent_ciliated": 0.483, "z_score": 0.483 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8084, "sd_percent_ciliated": -0.8084, "z_score": -0.8084 } ] }, { "gene": "CNGA4", "ensembl_id": "ENSG00000132259", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cyclic nucleotide gated channel subunit alpha 4 [Source:HGNC Symbol,Acc:HGNC:2152]", "omim_id": "609472", "functional_summary": "Required for ciliary targeting of the olfactory CNG channel. Cooperation in mediating feedback modulation by Ca2+-CaM. In absence of CNGB1, it does assemble and form functio l heteromeric channels in olfactory sensory neurons (16980309)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "16980309, 16782012 ,16980309 *", "complex_components": {}, "pfam_ids": ["PF00027", "PF16526", "PF00520"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "Cyclic nucleotide-gated cation channel", "Ion transport domain", "Cyclic nucleotide-gated channel", "C-terminal leucine zipper domain"], "string_link": "https://string-db.org/network/9606/ENSG00000132259", "synonym": "CNCA2, CNG5, CNGB2, OCNC2, OCNCB", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cnga4", "ortholog_c_elegans": "che-6, cng-1, cng-2, cng-3, tax-4", "ortholog_xenopus": "cnga4", "ortholog_zebrafish": "cnga4", "ortholog_drosophila": "CngA", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5024, "sd_percent_ciliated": 4.4321, "z_score": 0.3021 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.269, "sd_percent_ciliated": 0.269, "z_score": 0.269 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4631, "sd_percent_ciliated": -0.4631, "z_score": -0.4631 } ] }, { "gene": "CNGB1", "ensembl_id": "ENSG00000070729", "description": "cyclic nucleotide gated channel subunit beta 1 [Source:HGNC Symbol,Acc:HGNC:2151]", "omim_id": "600724", "functional_summary": "It endows the olfactory CNG channel with a variety of biophysical properties tailored to the specific requirements of olfactory transduction and is required for ciliary targeting of the olfactory CNG channel. Cooperation in mediating feedback modulation by Ca2+-CaM (16980309). Key regulators of disk size by mediating a physical connection between disk rims and the OS plasma membrane Loss of Cngb1 disruptes links between the disk and plasma membranes (23178122)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "16980309, 16782012, 23178122, 11379879", "complex_components": {}, "pfam_ids": "PF00027", "domain_descriptions": ["Cyclic nucleotide-binding domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "Cyclic nucleotide-gated cation channel"], "string_link": "https://string-db.org/network/9606/ENSG00000070729", "synonym": "CNCG2, CNCG3L, CNGB1B, GAR1, GARP, RCNC2, RCNCB, RP45", "ortholog_mouse": "Cngb1, Gar1", "ortholog_c_elegans": "garr-1, tax-2", "ortholog_xenopus": "cngb1, gar1", "ortholog_zebrafish": "cngb1a, gar1", "ortholog_drosophila": "CngB, Gar1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.9368, "sd_percent_ciliated": 8.2826, "z_score": 1.5663 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0942, "sd_percent_ciliated": 0.0942, "z_score": 0.0942 } ] }, { "gene": "CNNM4", "ensembl_id": "ENSG00000158158", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cyclin and CBS domain divalent metal cation transport mediator 4 [Source:HGNC Symbol,Acc:HGNC:105]", "omim_id": "607805", "functional_summary": "Cnnm4-deficient sperm are very similar to those of sperm lacking a functio l cation channel of sperm (CatSper) channel, which plays an essential role in Ca(2+) influx during sperm capacitation (27006114).", "localization": "flagella", "functional_category": "Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7006114E7", "complex_components": {}, "pfam_ids": ["PF01595", "PF00571"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "CBS domain", "CNNM", "transmembrane domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding domain superfamily", "Ion transporter-like", "CBS domain", "Ancient conserved domain protein family", "CBS domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000158158", "synonym": "ACDP4, KIAA1592, SLC70A4", "ortholog_mouse": "Cnnm4", "ortholog_c_elegans": "cnnm-1, cnnm-2, cnnm-3", "ortholog_xenopus": "cnnm4", "ortholog_drosophila": "uex", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.6905, "sd_percent_ciliated": 1.2377, "z_score": -0.8867 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6153, "sd_percent_ciliated": 0.6153, "z_score": 0.6153 } ] }, { "gene": "CNOT1", "ensembl_id": "ENSG00000125107", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CCR4-NOT transcription complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:7877]", "omim_id": "604917", "functional_summary": "Mutations in the CNOT1 gene cause Holoprosencephaly(PMID: 31006513).", "localization": "Cytosol", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "31006513 ,31006513", "complex_components": ["CNOT1", "CNOT2", "CNOT3", "DDX6", "EIF4ENIF1", "CNOT10", "CNOT11", "CNOT6", "CNOT7", "CNOT9", "TNKS1BP1", "CNOT6L", "CNOT8", "TOB1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000125107", "synonym": "CNOT1,CNOT1,ENSG00000125107, NOT1, CDC39, HPE12, NOT1H, VIBOS, AD-005", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cnot1", "ortholog_c_elegans": "let-711", "ortholog_xenopus": "cnot1", "ortholog_zebrafish": "cnot1", "ortholog_drosophila": "Not1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 10.2, "sd_percent_ciliated": 10.2, "z_score": 10.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.4264, "sd_percent_ciliated": -7.4264, "z_score": -7.4264, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CNR1", "ensembl_id": "ENSG00000118432", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cannabinoid receptor 1 [Source:HGNC Symbol,Acc:HGNC:2159]", "omim_id": "114610", "functional_summary": "CB1 may be motile rather than primary cilia, as complex basal bodies and 9+2 ciliary structures (22791629).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.2791629E7", "complex_components": ["CNR1", "DRD2", "ADORA2A", "OPRD1", "OPRK1", "OPRM1", "HCRTR1", "CNR2", "GPR55", "HCRTR2", "HTR2A"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Cannabinoid receptor type 1", "Cannabinoid receptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000118432", "synonym": "CANN6, CB-R, CB1, CB1A, CB1K5, CNR", "ortholog_mouse": "Cnr1", "ortholog_xenopus": "cnr1", "ortholog_zebrafish": "cnr1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.6387, "sd_percent_ciliated": 1.1002, "z_score": -0.4084, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.16, "sd_percent_ciliated": 3.16, "z_score": 3.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.9401, "sd_percent_ciliated": -5.9401, "z_score": -5.9401, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CNTRL", "ensembl_id": "ENSG00000119397", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centriolin [Source:HGNC Symbol,Acc:HGNC:1858]", "omim_id": "605496", "functional_summary": "CNTRL has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,27340223", "complex_components": ["CEP128", "CEP170", "CNTRL", "DCTN1", "KIF2A", "NIN", "ODF2"], "pfam_ids": "PF14580", "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Leucine-rich repeat domain superfamily", "Ciliary and flagellar integrity-associated protein", "SDS22/Internalin LRR-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000119397", "synonym": "CEP1, CEP110", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cntrl", "ortholog_xenopus": "cntrl", "ortholog_zebrafish": "cntrl", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.78, "sd_percent_ciliated": 1.78, "z_score": 1.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3715, "sd_percent_ciliated": -1.3715, "z_score": -1.3715, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CNTROB", "ensembl_id": "ENSG00000170037", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "centrobin, centriole duplication and spindle assembly protein [Source:HGNC Symbol,Acc:HGNC:29616]", "omim_id": "611425", "functional_summary": "CNTROB has localized in basal body, transition zone.", "localization": "basal body, transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273, 29440264", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000170037", "synonym": "LIP8, PP1221", "ortholog_mouse": "Cntrob", "ortholog_zebrafish": "cntrob", "ortholog_drosophila": "Cnb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.39, "sd_percent_ciliated": 2.39, "z_score": 2.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2768, "sd_percent_ciliated": -0.2768, "z_score": -0.2768, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "COA7", "ensembl_id": "ENSG00000162377", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytochrome c oxidase assembly factor 7 [Source:HGNC Symbol,Acc:HGNC:25716]", "omim_id": "615623", "functional_summary": "Mutations in the COA7 gene cause Spinocerebellar Ataxia (PMID: 29718187).", "localization": "Ciliary associated gene, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "2.9718187E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000162377", "synonym": "C1ORF163, FLJ12439, RESA1, SELRC1", "ortholog_mouse": "Coa7", "ortholog_c_elegans": "coa-7", "ortholog_xenopus": "coa7", "ortholog_zebrafish": "coa7", "ortholog_drosophila": "Coa7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "COBL", "ensembl_id": "ENSG00000106078", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "cordon-bleu WH2 repeat protein [Source:HGNC Symbol,Acc:HGNC:22199]", "omim_id": "610317", "functional_summary": "Cobl protein localized apically in ciliated epithelial tissues. In Kupffer's vesicle, the reduction in Cobl coincides with a reduction in the amount of apical F-actin. Cobl represents a molecular activity that couples developmental patterning sig ls with local intracellular cytoskeletal dy mics to support morphogenesis of motile cilia(21129373).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.1129373E7", "complex_components": {}, "pfam_ids": ["PF09469", "PF02205"], "domain_descriptions": ["WH2 domain", "Cordon-bleu", "ubiquitin-like domain", "Protein cordon-bleu-like", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000106078", "synonym": "KIAA0633", "ortholog_mouse": "Cobl", "ortholog_xenopus": "cobl", "ortholog_zebrafish": "cobl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.2801, "sd_percent_ciliated": 1.9003, "z_score": 1.1232, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.7495, "sd_percent_ciliated": 0.7495, "z_score": 0.7495, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "COCH", "ensembl_id": "ENSG00000100473", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cochlin [Source:HGNC Symbol,Acc:HGNC:2180]", "omim_id": "603196", "functional_summary": "Mutations in cilia genes cep290 and bbs2, involved in human ciliopathies, affect apical secretion of Cochlin, a major otolith component and a determi nt of calcium carbo te crystallization form( 34244442).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.4244442E7", "complex_components": {}, "pfam_ids": ["PF03815", "PF00092"], "domain_descriptions": ["von Willebrand factor", "type A", "LCCL domain", "von Willebrand factor A-like domain superfamily", "LCCL domain superfamily", "Extracellular Matrix Assembly and Organization", "Cysteine-rich secretory LCCL domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000100473", "synonym": "COCH-5B2, DFNA31, DFNA9", "ortholog_mouse": "Coch", "ortholog_c_elegans": "K09E2.1", "ortholog_xenopus": "coch", "ortholog_zebrafish": "coch", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.583, "sd_percent_ciliated": 11.3301, "z_score": -0.1728, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.493, "sd_percent_ciliated": 0.493, "z_score": 0.493, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.5634, "sd_percent_ciliated": -13.5634, "z_score": -13.5634, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "COL2A1", "ensembl_id": "ENSG00000139219", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "collagen type II alpha 1 chain [Source:HGNC Symbol,Acc:HGNC:2200]", "omim_id": "120140", "functional_summary": "Mutations in the COL2A1 gene cause Spondylometaphyseal Dysplasia (PMID: 38162154).", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, ECM & connective tissue", "reference": "38162154 ,38162154", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000139219", "synonym": "AOM, SEDC, STL1", "ciliopathy": "Spondylometaphyseal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Col2a1", "ortholog_xenopus": "col2a1", "ortholog_zebrafish": "col2a1a, col2a1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.1554, "sd_percent_ciliated": 5.1564, "z_score": 0.5023 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.92, "sd_percent_ciliated": 1.92, "z_score": 1.92 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.1813, "sd_percent_ciliated": -1.1813, "z_score": -1.1813 } ] }, { "gene": "CORO2A", "ensembl_id": "ENSG00000106789", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "coronin 2A [Source:HGNC Symbol,Acc:HGNC:2255]", "omim_id": "602159", "functional_summary": "CORO2A has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CORO2A", "GPS2", "HDAC3", "NCOR1", "TBL1X", "TBL1XR1", "KDM4A", "KIF11", "TRIM33", "ZBTB33"], "pfam_ids": ["PF08953", "PF16300", "PF00400"], "domain_descriptions": ["WD40 repeat", "Domain of Not Reported function DUF1899", "Coronin", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000106789", "synonym": "IR10, WDR2", "ortholog_mouse": "Coro2a", "ortholog_xenopus": "coro2a", "ortholog_zebrafish": "coro2aa, coro2ab", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.4792, "sd_percent_ciliated": 5.5414, "z_score": 0.905, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0145, "sd_percent_ciliated": -4.0145, "z_score": -4.0145, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "COX6A1", "ensembl_id": "ENSG00000111775", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytochrome c oxidase subunit 6A1 [Source:HGNC Symbol,Acc:HGNC:2277]", "omim_id": "602072", "functional_summary": "COX6A1 has localized in flagella.", "localization": "flagella, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["Cox4i1", "Cox5a", "Cox5b", "Cox6a1", "Cox6b1", "Cox6c", "Cox7a2", "Cox7b", "Cox7c", "Cox8a", "mt-Co1", "mt-Co3", "Mtco2", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8A", "MT-CO1", "MT-CO2", "MT-CO3", "Cox6c1", "Mt-co1", "Mt-co2", "Mt-co3", "COX8B", "CYC1", "MT-CYB", "MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ", "HIGD1A", "PET100", "PET117", "PNKD"], "pfam_ids": "PF02046", "domain_descriptions": ["Cytochrome c oxidase", "subunit VIa", "Cytochrome c oxidase", "subunit VIa", "conserved site", "Cytochrome c oxidase", "subunit VIa superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111775", "synonym": "COX6A, COX6AL", "ortholog_mouse": "Cox6a1", "ortholog_c_elegans": "cox-6A", "ortholog_xenopus": "cox6a1, cox6a2", "ortholog_zebrafish": "cox6a1, cox6a2", "ortholog_drosophila": "COX6AL, COX6AL2, levy", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.4765, "sd_percent_ciliated": 8.2345, "z_score": 0.1778 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.115, "sd_percent_ciliated": 0.115, "z_score": 0.115 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.651, "sd_percent_ciliated": -2.651, "z_score": -2.651 } ] }, { "gene": "COX6B1", "ensembl_id": "ENSG00000126267", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytochrome c oxidase subunit 6B1 [Source:HGNC Symbol,Acc:HGNC:2280]", "omim_id": "124089", "functional_summary": "COX6B1 has localized in flagella.", "localization": "flagella, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["COX4I1", "COX5A", "COX5B", "COX6A2", "COX6B1", "COX6C", "COX7A1", "COX7B", "COX7C", "COX8B", "MT-CO1", "MT-CO2", "MT-CO3", "Cox4i1", "Cox5a", "Cox5b", "Cox6a1", "Cox6b1", "Cox6c", "Cox7a2", "Cox7b", "Cox7c", "Cox8a", "mt-Co1", "mt-Co3", "Mtco2", "COX6A1", "COX7A2", "COX8A", "Cox6c1", "Mt-co1", "Mt-co2", "Mt-co3", "CYC1", "MT-CYB", "MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ", "HIGD1A", "PET100", "PET117", "PNKD"], "pfam_ids": "PF02297", "domain_descriptions": ["Cytochrome c oxidase", "subunit VIb", "Cytochrome c oxidase subunit 6B/Cytochrome c oxidase assembly factor 6-like superfamily", "Cytochrome oxidase c subunit VIb-like"], "string_link": "https://string-db.org/network/9606/ENSG00000126267", "synonym": "COX6B, COXG", "ortholog_mouse": "Cox6b1", "ortholog_c_elegans": "cox-6B", "ortholog_xenopus": "cox6b1", "ortholog_zebrafish": "cox6b1", "ortholog_drosophila": "COX6B", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.3189, "sd_percent_ciliated": 3.4195, "z_score": -0.0836 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.95, "sd_percent_ciliated": 1.95, "z_score": 1.95 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.4874, "sd_percent_ciliated": -1.4874, "z_score": -1.4874 } ] }, { "gene": "CPAP", "ensembl_id": "ENSG00000151849", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Increased cilia number", "description": "centrosome assembly and centriole elongation protein [Source:HGNC Symbol,Acc:HGNC:17272]", "omim_id": "609279", "functional_summary": "Acts as a scaffold for the cilium disassembly complex, which includes Nde1, Aurora A, and OFD1, which is recruited to the ciliary base for timely cilium disassembly, plays a role in NPC proliferation, cilia formation, controlling the cilium axoneme and BB structure, regulates centriole duplication and elongation (30626697). Promotes the extension of the centriolar cylinder, presumably via its ability to recruit tubulin to the scent structure, studies propose that functions as a scaffold for tubulin addition (19481458).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "30626697, 19481458, 26929011, 23213448 ,30626697", "complex_components": {}, "pfam_ids": "PF07202", "domain_descriptions": ["Centromere protein J", "C-terminal domain", "TCP10L/CENPJ", "T-complex protein 10", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000151849", "synonym": "BM032, CENPJ, LAP, LIP1, MCPH6, SAS-4, SASS4, SCKL4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cpap", "ortholog_xenopus": "tcp10l2", "ortholog_zebrafish": "cpap", "ortholog_drosophila": "Sas-4", "screens": {} }, { "gene": "CPLANE1", "ensembl_id": "ENSG00000197603", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "ciliogenesis and planar polarity effector complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:25801]", "omim_id": "614571", "functional_summary": "Also known as JBTS17. Most common mutated gene in Joubert syndrome and the related oral-facial-digital syndrome type VI (OFDVI). (29321670). JBTS17 contributes to mitotic progression by interacting with LIS1, its depletion disrupts chromosome alignment and spindle pole orientation, resulting in mitotic delay (31004438). JBTS17 acts upstream of NPHP1 in the assembly of the NPHP1-4-8 complex in the cilia transition zone, it is required for efficient SHH sig ling and for establishing cell polarity (25877302).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "29321670, 31004438, 25877302, 22425360, 24178751, 39694173 ,22425360; 24178751", "complex_components": {}, "pfam_ids": "PF15392", "domain_descriptions": ["Ciliogenesis and planar polarity effector 1", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000197603", "synonym": "C5ORF42, FLJ13231, HUG, JBTS17", "ciliopathy": "Joubert Syndrome; Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cplane1", "ortholog_zebrafish": "cplane1", "screens": {} }, { "gene": "CPLANE2", "ensembl_id": "ENSG00000291382", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliogenesis and planar polarity effector complex subunit 2 [Source:HGNC Symbol,Acc:HGNC:28127]", "omim_id": "620487", "functional_summary": "Also called RSG1. Regulator of ciliogenesis, including apical trafficking of basal bodies and the cytoplasmatic localisation and axonemal dy mics of retrograde intraflagellar transport proteins IFT-A protein IFT43 (24192041). Component of the CPLANE complex and acts at increasing the efficiency of primary cilia initiation in a late step. RSG1 activity promotes assembly of the microtubule axoneme after the mother centriole has docked onto the ciliary vesicle and accelerates the rate of elongation of the young axoneme. Only gene identified to date in which null mutations cause the production of fewer primary cilia of normal length and without a detectable defect in ciliary trafficking (29038301)", "localization": "basal body ,transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Transition zone", "reference": "24192041, 29038301", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291382", "synonym": "C1ORF89, MGC10731, RSG1", "ortholog_mouse": "Cplane2", "ortholog_xenopus": "cplane2", "ortholog_zebrafish": "cplane2", "screens": {} }, { "gene": "CPS1", "ensembl_id": "ENSG00000021826", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "carbamoyl-phosphate synthase 1 [Source:HGNC Symbol,Acc:HGNC:2323]", "omim_id": "608307", "functional_summary": "CPS1 has localized in flagella.", "localization": "flagella, Nucleus, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": "CPS1", "pfam_ids": ["PF00117", "PF02787", "PF02786", "PF00988", "PF02142"], "domain_descriptions": ["Carbamoyl-phosphate synthase small subunit", "N-terminal domain", "Carbamoyl-phosphate synthetase large subunit-like", "ATP-binding domain", "Carbamoyl-phosphate synthetase", "large subunit oligomerisation domain", "Carbamoyl-phosphate synthase large subunit", "CPSase domain", "Carbamoyl-phosphate synthase", "small subunit", "Carbamoyl-phosphate synthase", "large subunit", "Methylglyoxal synthase-like domain", "ATP-grasp fold", "ATP-grasp fold", "subdomain 1", "Pre-ATP-grasp domain superfamily", "Glutamine amidotransferase", "Class I glutamine amidotransferase-like", "Carbamoyl-phosphate synthase small subunit", "GATase1 domain", "Carbamoyl-phosphate synthase small subunit", "N-terminal domain superfamily", "Carbamoyl-phosphate synthetase", "large subunit oligomerisation domain superfamily", "Methylglyoxal synthase-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000021826", "synonym": "GATD6", "ortholog_mouse": "Cps1", "ortholog_xenopus": "cps1", "ortholog_zebrafish": "cps1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.5122, "sd_percent_ciliated": 9.5229, "z_score": 0.0609, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.97, "sd_percent_ciliated": 1.97, "z_score": 1.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.8427, "sd_percent_ciliated": 1.8427, "z_score": 1.8427, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CPTP", "ensembl_id": "ENSG00000224051", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ceramide-1-phosphate transfer protein [Source:HGNC Symbol,Acc:HGNC:28116]", "omim_id": "615467", "functional_summary": "CPTP has localized in basal body,flagella.", "localization": "basal body,flagella, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF08718", "domain_descriptions": ["Glycolipid transfer protein domain", "Glycolipid transfer protein superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000224051", "synonym": "GLTPD1, MGC10334", "ortholog_mouse": "Cptp", "ortholog_c_elegans": "K08E4.2, tag-296", "ortholog_xenopus": "cptp", "ortholog_zebrafish": "cptp", "ortholog_drosophila": "CG30392", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.137, "sd_percent_ciliated": 0.137, "z_score": 0.137, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CRB1", "ensembl_id": "ENSG00000134376", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "crumbs cell polarity complex component 1 [Source:HGNC Symbol,Acc:HGNC:2343]", "omim_id": "604210", "functional_summary": "Mutations in the CRB1 gene cause Retinitis Pigmentosa and Leber Congenital Amaurosis (PMID: 10508521, PMID:11231775).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "10508521, 11231775 ,11231775; 10508521", "complex_components": ["CRB1", "PALS1", "PATJ", "MPP4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000134376", "synonym": "LCA8, RP12", "ciliopathy": "Leber Congenital Amaurosis; Retinitis Pigmentosa", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Crb1", "ortholog_c_elegans": "crb-1", "ortholog_xenopus": "crb1", "ortholog_zebrafish": "crb1", "ortholog_drosophila": "crb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.3284, "sd_percent_ciliated": 7.7498, "z_score": 0.281, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.161, "sd_percent_ciliated": 0.161, "z_score": 0.161, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.2053, "sd_percent_ciliated": 1.2053, "z_score": 1.2053, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CRB3", "ensembl_id": "ENSG00000130545", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "crumbs cell polarity complex component 3 [Source:HGNC Symbol,Acc:HGNC:20237]", "omim_id": "609737", "functional_summary": "Epithelial polarity, tight junction formation and ciliogenesis. CRB3-CLPI isoform interacts with importin β-1 to be delivered to spindle poles during cell division and ciliogenesis, and this delivery may be important for centrosomemainte nce (17646395). It modulates intraflagellar transport and cilia elongation together with Par3/Par6/aPKC polarity complex (28882989, 15324661) Moreover, morpholino knockdown of crb3a in zebrafish was shown to reduce cilia length (28882989)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cilia length regulation", "reference": "17646395, 28882989, 15324661", "complex_components": ["CRB3", "PALS1", "PATJ", "PARD3", "PARD6A", "PRKCI", "YWHAZ"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000130545", "synonym": "MGC17303", "ortholog_mouse": "Crb3", "ortholog_xenopus": "crb3", "ortholog_zebrafish": "crb3a, crb3b", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8438, "z_score": 0.4236, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 42.0233, "z_score": 0.4863, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 12.625 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.47, "z_score": 5.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 5.47 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4262, "z_score": -0.4262, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.4262 } ] }, { "gene": "CREB1", "ensembl_id": "ENSG00000118260", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cAMP responsive element binding protein 1 [Source:HGNC Symbol,Acc:HGNC:2345]", "omim_id": "123810", "functional_summary": "CREB1 at the basal body, which co-localized to the nucleoplasm, supporting the hypothesis that the cilium controls gene expression by local modification of transcription factors beyond Sonic Hedgehog sig ling, as shown recently for CREB1. The ciliary sig losome relies on an increase in ciliary cAMP level and subsequent PKA鈥恉ependent phosphorylation of CREB in the cilium(35695071). CREB1 enrolls in the Cyclic AMP (cAMP)-mediated signaling (GO:0019933) (41005307)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "35695071, 41005307", "complex_components": ["CREB1", "LMO4", "FHL2", "FHL3", "Fhl5", "ATF4", "HDAC8"], "pfam_ids": ["PF00170", "PF02173"], "domain_descriptions": ["cAMP response element binding (CREB) protein", "Cyclic AMP-responsive element-binding protein 1-like", "pKID", "Basic-leucine zipper domain", "Basic-leucine zipper domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000118260", "ortholog_mouse": "Creb1", "ortholog_xenopus": "creb1", "ortholog_zebrafish": "creb1a, creb1b", "ortholog_drosophila": "CrebB", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.6451, "sd_percent_ciliated": 5.9263, "z_score": 0.1982 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.05, "sd_percent_ciliated": 3.05, "z_score": 3.05 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.2497, "sd_percent_ciliated": -4.2497, "z_score": -4.2497 } ] }, { "gene": "CREB3", "ensembl_id": "ENSG00000107175", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cAMP responsive element binding protein 3 [Source:HGNC Symbol,Acc:HGNC:2347]", "omim_id": "606443", "functional_summary": "CREB3 has localized in ciliary tip, primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00170", "domain_descriptions": ["Basic-leucine zipper domain", "Basic-leucine zipper domain superfamily", "cAMP-responsive element-binding ATF subfamily", "Transcription factor", "Skn-1-like", "DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000107175", "synonym": "LUMAN, LZIP, SLZIP", "ortholog_mouse": "Creb3", "ortholog_c_elegans": "let-607", "ortholog_xenopus": "creb3", "ortholog_zebrafish": "creb3l3l", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5713, "sd_percent_ciliated": 11.6174, "z_score": -0.4165, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.8, "sd_percent_ciliated": 13.8, "z_score": 13.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5948, "sd_percent_ciliated": -3.5948, "z_score": -3.5948, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CRHR1", "ensembl_id": "ENSG00000276191", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "corticotropin releasing hormone receptor 1 [Source:HGNC Symbol,Acc:HGNC:2357]", "omim_id": "122561", "functional_summary": "Mutations in the CRHR1 gene cause Primary Ciliary Dyskinesia (PMID: 31835165).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "31835165 ,31835165", "complex_components": ["CRHR1", "RAMP2", "AVPR1B", "GNAS", "Gnb1", "Gng2", "UCN", "CRHR2", "PDZK1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276191", "synonym": "CRF-R, CRF1, CRHR", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Crhr1", "ortholog_xenopus": "crhr1.2", "ortholog_zebrafish": "crhr1", "ortholog_drosophila": "Dh44-R1, Dh44-R2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.9372, "sd_percent_ciliated": 2.2001, "z_score": 0.3547, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5826, "sd_percent_ciliated": -0.5826, "z_score": -0.5826, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CRHR2", "ensembl_id": "ENSG00000106113", "overexpression_effects": "Not reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not reported", "description": "corticotropin releasing hormone receptor 2 [Source:HGNC Symbol,Acc:HGNC:2358]", "omim_id": "602034", "functional_summary": "Mammalian G-protein coupled receptor (GPCR) with high affinity for corticotropin-releasing hormone (CRH) and the CRH family of peptides, involved in neurotransmitters sig ling. Component of ciliogenesis pathways. Studies suggest that GPCRs may regulate endocytic membrane trafficking, playing sensory or sig lling roles in the ciliary vesicle or procilium at the earliest stages of ciliogenesis both in the developing brain and in other tissues.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6167768E7", "complex_components": ["CRHR2", "DRD1", "CRHR1", "GNAS", "Gnb1", "Gng2", "UCN"], "pfam_ids": ["PF00002", "PF02793"], "domain_descriptions": ["GPCR", "family 2", "secretin-like", "GPCR", "family 2", "extracellular hormone receptor domain", "GPCR", "family 2", "corticotropin releasing factor receptor", "GPCR", "family 2", "corticotropin releasing factor receptor", "type 2", "GPCR", "family 2-like", "7TM", "GPCR", "family 2", "secretin-like", "conserved site", "GPCR family 2", "extracellular hormone receptor domain superfamily", "G-protein coupled receptor 2"], "string_link": "https://string-db.org/network/9606/ENSG00000106113", "synonym": "CRF-RB, CRF2, HM-CRF", "ortholog_mouse": "Crhr2", "ortholog_zebrafish": "crhr2", "ortholog_drosophila": "Dh44-R1, Dh44-R2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.8145, "sd_percent_ciliated": 8.0002, "z_score": 1.0668, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.371, "sd_percent_ciliated": 0.371, "z_score": 0.371, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.601, "sd_percent_ciliated": -4.601, "z_score": -4.601, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CRK", "ensembl_id": "ENSG00000167193", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "CRK proto-oncogene, adaptor protein [Source:HGNC Symbol,Acc:HGNC:2362]", "omim_id": "164762", "functional_summary": "CRK has localized in basal body. CRK plays role in RTK signaling pathway (GO:0007169) and Mitogen-activated protein kinase (MAPK) cascade (GO:0000165) as a basal body protein (41005307)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 41005307", "complex_components": ["CRK", "CRKL", "PDGFRA", "RAPGEF1", "BCAR1", "CBL", "GRB2", "PIK3R1", "SH3KBP1", "SOS1", "DOCK1", "ELMO1", "CDC42", "TNK2"], "pfam_ids": ["PF00017", "PF00018", "PF07653"], "domain_descriptions": ["SH2 domain", "SH3 domain", "CRK", "N-terminal SH3 domain", "SH3-like domain superfamily", "SH2 domain superfamily", "Tyrosine-phosphorylated adapter molecule", "CRK", "C-terminal SH3 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167193", "ortholog_mouse": "Crk", "ortholog_c_elegans": "ced-2", "ortholog_xenopus": "crk", "ortholog_zebrafish": "crk", "ortholog_drosophila": "Crk", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.7486, "sd_percent_ciliated": 0.0079, "z_score": -0.2739 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 23.5, "sd_percent_ciliated": 23.5, "z_score": 23.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.4498, "sd_percent_ciliated": -4.4498, "z_score": -4.4498 } ] }, { "gene": "CROCC", "ensembl_id": "ENSG00000058453", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "ciliary rootlet coiled-coil, rootletin [Source:HGNC Symbol,Acc:HGNC:21299]", "omim_id": "615776", "functional_summary": "Structural component of the ciliary rootlet. Coiled-coil interaction in the extended α-helical rod domain of rootletin is a key feature in rootlet formation (12427867). Interaction between the rootlet and intermediate filaments may contribute substantially to the role as support structure for the cillium. Candidate gene for human reti l degeneration (15870283). interacts with the large coiled-coil protein, C- P1, to connect parental centrioles and maintain centrosome cohesion. Positive regulation of ciliogenesis (23070519). CHE-10/rootletin maintains ciliary integrity by modulating the assembly, motility, and flux of IFT particles, which are critical for axoneme length control, and is essential for stabilizing ciliary transition zones and basal bodies (24094853)", "localization": "basal body, cilia , transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "12427867, 15870283, 23070519, 24094853, 41005307", "complex_components": {}, "pfam_ids": "PF15035", "domain_descriptions": ["Rootletin-like", "coiled-coil"], "string_link": "https://string-db.org/network/9606/ENSG00000058453", "synonym": "CROCC1, ROLT, ROOTLETIN", "ortholog_mouse": "Crocc", "ortholog_c_elegans": "che-10, lfi-1", "ortholog_xenopus": "crocc", "ortholog_zebrafish": "crocc", "ortholog_drosophila": "Root", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 23.0441, "sd_percent_ciliated": 11.6863, "z_score": -1.8131 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.573, "sd_percent_ciliated": 0.573, "z_score": 0.573 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.9005, "sd_percent_ciliated": 1.9005, "z_score": 1.9005 } ] }, { "gene": "CROCC2", "ensembl_id": "ENSG00000226321", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "ciliary rootlet coiled-coil, rootletin family member 2 [Source:HGNC Symbol,Acc:HGNC:51677]", "functional_summary": "AC104809.3 (LOC728763) ,Foxj1-induced genes, localized along the extracellular shafts of the motile cilia (25139857). IFT20 gain of function could completely block the effects of CROCCP2 on ciliary length (36334595)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "25139857, 36334595, 33720362", "complex_components": {}, "pfam_ids": "PF15035", "domain_descriptions": ["Rootletin-like", "coiled-coil"], "string_link": "https://string-db.org/network/9606/ENSG00000226321", "ortholog_mouse": "Crocc2", "ortholog_xenopus": "crocc2", "ortholog_zebrafish": "crocc2", "ortholog_drosophila": "Root", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "CROCCP2", "ensembl_id": "ENSG00000215908", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "CROCC pseudogene 2 [Source:HGNC Symbol;Acc:HGNC:28170]", "functional_summary": "Loss of function of CROCCP2 in human cortical cells and organoids leads to increased ciliogenesis, decreased mTOR signaling, and impaired basal progenitor amplification. These data identify CROCCP2 as a human-specific modifier of cortical neurogenesis that acts through modulation of ciliary dynamics and mTOR signaling(36334595).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration", "reference": "3.6334595E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000215908", "synonym": "CROCCL1; MGC12760", "screens": [] }, { "gene": "CRP", "ensembl_id": "ENSG00000132693", "overexpression_effects": "Longer cilia", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Increased cilia number", "description": "C-reactive protein [Source:HGNC Symbol,Acc:HGNC:2367]", "omim_id": "123260", "functional_summary": "CRP inhibits the osteoblastic differentiation of OPCs via the up-regulation of primary cilia and repression of the Hedgehog sig ling pathway ( 38345752).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8345752E7", "complex_components": {}, "pfam_ids": "PF00354", "domain_descriptions": ["Pentraxin-related", "Concanavalin A-like lectin/glucanase domain superfamily", "Pentaxin", "conserved site", "Pentraxin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000132693", "synonym": "PTX1", "ortholog_mouse": "Crp", "ortholog_xenopus": "apcs.2, crp, crp.2, LOC100486739", "ortholog_zebrafish": "apcs, crp3, crp4, crp5, crp6, crp7", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.1041, "sd_percent_ciliated": 11.9629, "z_score": 0.0115 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.599, "sd_percent_ciliated": 0.599, "z_score": 0.599 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.6609, "sd_percent_ciliated": -2.6609, "z_score": -2.6609 } ] }, { "gene": "CRX", "ensembl_id": "ENSG00000105392", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cone-rod homeobox [Source:HGNC Symbol,Acc:HGNC:2383]", "omim_id": "602225", "functional_summary": "CRX has localized in cilia. The gene causes Leber congenital amaurosis (LCA) (37072495)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273, 9390563, 9537410, 12208271, 37072495 ,9390563", "complex_components": ["CRX", "NR1D1", "NR2E3", "NRL"], "pfam_ids": ["PF00046", "PF03529"], "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Transcription factor Otx", "C-terminal", "Homeobox", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000105392", "synonym": "CORD2, CRD, LCA7, OTX3", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Crx", "ortholog_c_elegans": "ttx-1", "ortholog_xenopus": "crx", "ortholog_zebrafish": "crx, otx5", "ortholog_drosophila": "oc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.9838, "sd_percent_ciliated": 9.8666, "z_score": 0.9662 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.24, "sd_percent_ciliated": 2.24, "z_score": 2.24 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4475, "sd_percent_ciliated": 1.4475, "z_score": 1.4475 } ] }, { "gene": "CRYBG3", "ensembl_id": "ENSG00000080200", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "crystallin beta-gamma domain containing 3 [Source:HGNC Symbol,Acc:HGNC:34427]", "omim_id": "620146", "functional_summary": "CRYBG3 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00030", "PF00652"], "domain_descriptions": ["Ricin B", "lectin domain", "Beta/gamma crystallin", "Gamma-crystallin-like", "Ricin B-like lectins", "Beta/Gamma-Crystallin"], "string_link": "https://string-db.org/network/9606/ENSG00000080200", "synonym": "DKFZP667G2110", "ortholog_mouse": "Crybg3", "ortholog_xenopus": "crybg3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6983, "sd_percent_ciliated": -1.6983, "z_score": -1.6983, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CSNK1D", "ensembl_id": "ENSG00000141551", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "casein kinase 1 delta [Source:HGNC Symbol,Acc:HGNC:2452]", "omim_id": "600864", "functional_summary": "Also called CKI-delta. Required for microtubule nucleation at the Golgi and mainte nce of Golgi integrity. It mediates primary ciliogenesis by multiple mechanisms involving its centrosomal function and another dependent on its interaction with AKAP450 at the Golgi, where it is important for maintaining Golgi organization and polarized trafficking of multiple factors that mediate ciliary transport. Required for proper positioning of centriolar satellite proteins (24648492). Csnk1d-null embryos revealed a decline in ciliary length of neural progenitor and RPE cells.", "localization": "basal body, cilia, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "24648492, 24648492 ,24648492", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Casein Kinase 1 Ser/Thr Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000141551", "synonym": "CKID, CKIDELTA, HCKID", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Csnk1d", "ortholog_c_elegans": "kin-20", "ortholog_xenopus": "csnk1d", "ortholog_zebrafish": "csnk1da, csnk1db", "ortholog_drosophila": "dco", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.8398, "sd_percent_ciliated": 9.3506, "z_score": 1.3122 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0228, "sd_percent_ciliated": 0.0228, "z_score": 0.0228 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.9245, "sd_percent_ciliated": 0.9245, "z_score": 0.9245 } ] }, { "gene": "CSNK1E", "ensembl_id": "ENSG00000213923", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "casein kinase 1 epsilon [Source:HGNC Symbol,Acc:HGNC:2453]", "omim_id": "600863", "functional_summary": "Via the formation of the Dvl2–Plk1 complex, Plk1 plays an u nticipated role in primary cilia disassembly by linking Wnt5a‐induced biochemical steps to HEF1/AurA‐dependent cilia disassembly ( 22609948).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "22609948 ,22609948", "complex_components": ["CSNK1A1", "CSNK1E", "NR3C2"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Casein Kinase 1 Ser/Thr Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000213923", "synonym": "CKIE, CKIEPSILON, HCKIE", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Csnk1e", "ortholog_c_elegans": "kin-20", "ortholog_xenopus": "csnk1e", "ortholog_zebrafish": "csnk1e", "ortholog_drosophila": "dco", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.6765, "sd_percent_ciliated": 1.0092, "z_score": 0.8078, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.16, "sd_percent_ciliated": 2.16, "z_score": 2.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2034, "sd_percent_ciliated": -4.2034, "z_score": -4.2034, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CSNK1G1", "ensembl_id": "ENSG00000169118", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "casein kinase 1 gamma 1 [Source:HGNC Symbol,Acc:HGNC:2454]", "omim_id": "606274", "functional_summary": "CSNK1G1 and CSNK1G3 highly specificly localized to neuronal primary cilia (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0623838E7", "complex_components": {}, "pfam_ids": ["PF12605", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Casein kinase 1 gamma C-terminal", "Casein Kinase 1 Ser/Thr Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000169118", "synonym": "CK1GAMMA1", "ortholog_mouse": "Csnk1g1", "ortholog_c_elegans": "csnk-1", "ortholog_xenopus": "csnk1g1", "ortholog_zebrafish": "csnk1g1", "ortholog_drosophila": "gish", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.3293, "sd_percent_ciliated": 3.2198, "z_score": -0.567, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.03, "sd_percent_ciliated": 1.03, "z_score": 1.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4161, "sd_percent_ciliated": -3.4161, "z_score": -3.4161, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CSNK1G3", "ensembl_id": "ENSG00000151292", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "casein kinase 1 gamma 3 [Source:HGNC Symbol,Acc:HGNC:2456]", "omim_id": "604253", "functional_summary": "CSNK1G1 and CSNK1G3 highly specificly localized to neuronal primary cilia (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0623838E7", "complex_components": {}, "pfam_ids": ["PF12605", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Casein kinase 1 gamma C-terminal", "Casein Kinase 1 Ser/Thr Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000151292", "ortholog_mouse": "Csnk1g3", "ortholog_c_elegans": "csnk-1", "ortholog_drosophila": "gish", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.2603, "sd_percent_ciliated": 1.6415, "z_score": -0.0907 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5777, "sd_percent_ciliated": -2.5777, "z_score": -2.5777 } ] }, { "gene": "CSNK2A1", "ensembl_id": "ENSG00000101266", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "casein kinase 2 alpha 1 [Source:HGNC Symbol;Acc:HGNC:2457]", "omim_id": "115440", "functional_summary": "CK2 catalytic subunit CSNK2A1 as an important modulator of TTBK2 function in cilia trafficking. Superresolution microscopy reveals that CSNK2A1 is a centrosomal protein concentrated at the mother centriole and associated with the distal appendages. Csnk2a1 mutant cilia are longer than those of control cells, showing instability at the tip associated with ciliary actin cytoskeleton changes. These cilia also abnormally accumulate key cilia assembly and SHH-related proteins. De novo mutations of Csnk2a1 were recently linked to the human genetic disorder Okur-Chung neurodevelopmental syndrome (OCNDS). Consistent with the role of CSNK2A1 in cilium stability, we find that expression of OCNDS-associated Csnk2a1 variants in wild-type cells causes ciliary structural defects. Our findings provide insights into mechanisms involved in ciliary length regulation, trafficking, and stability that in turn shed light on the significance of cilia instability in human disease(PMID: 33846249).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.3846249E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101266", "synonym": "CKA1, CKA2", "ortholog_mouse": "Csnk2a1", "ortholog_c_elegans": "kin-3", "ortholog_xenopus": "csnk2a1", "ortholog_zebrafish": "csnk2a1, zgc:86598", "ortholog_drosophila": "CkIIα", "screens": [] }, { "gene": "CSNK2B", "ensembl_id": "ENSG00000224398", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "casein kinase 2 beta [Source:HGNC Symbol,Acc:HGNC:2460]", "omim_id": "115441", "functional_summary": "CSNK2B has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["CSNK2A1", "CSNK2A2", "CSNK2B", "SSRP1", "SUPT16H", "HMGB1", "AUTS2", "FBRS", "FBRSL1", "PCGF3", "RING1", "RNF2", "RYBP", "YAF2", "PCGF5"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000224398", "synonym": "CKB1, CKB2", "ortholog_mouse": "Csnk2b", "ortholog_c_elegans": "kin-10", "ortholog_xenopus": "csnk2b", "ortholog_zebrafish": "csnk2b", "ortholog_drosophila": "CkIIβ", "screens": {} }, { "gene": "CSPP1", "ensembl_id": "ENSG00000104218", "overexpression_effects": "longer cilia", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "centrosome and spindle pole associated protein 1 [Source:HGNC Symbol,Acc:HGNC:26193]", "omim_id": "611654", "functional_summary": "CSPP proteins may be involved in cytoskeletal organization and for correct localisation of NPHP8 to the tip of the basal body that is forming the transition zone (20519441). Interacts with CEP104 at for the regulation of axoneme length and Hedgehog pathway stimulation (31412255). CSPP1 is required for localization of axonemal proteins, such as ARL13B and AC3, loss of CSPP1 is a cause of Joubert syndrome (24360808). The decreased cilium number and length in cell lines with CSPP1 mutations.", "localization": "transition zone, basal body , cilia, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "20519441, 31412255, 24360808, 24360803, 24360807, 24360808 ,24360807", "complex_components": {}, "pfam_ids": "PF24578", "domain_descriptions": "Centrosome and spindle pole associated protein 1", "string_link": "https://string-db.org/network/9606/ENSG00000104218", "synonym": "CSPP, CSPP-L, FLJ22490, JBTS21", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cspp1", "ortholog_xenopus": "cspp1", "ortholog_zebrafish": "cspp1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.42, "sd_percent_ciliated": 1.42, "z_score": 1.42, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.897, "sd_percent_ciliated": -2.897, "z_score": -2.897, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CSRNP1", "ensembl_id": "ENSG00000144655", "description": "cysteine and serine rich nuclear protein 1 [Source:HGNC Symbol;Acc:HGNC:14300]", "omim_id": "606458", "reference": "NA", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000144655", "synonym": "AXUD1; DKFZP566F164; FAM130B; TAIP-3; URAX1", "ortholog_mouse": "Csrnp1", "ortholog_c_elegans": "C41D11.3", "ortholog_xenopus": "csrnp1", "ortholog_zebrafish": "csrnp1a, csrnp1b", "ortholog_drosophila": "Axud1", "screens": [] }, { "gene": "CSTF2T", "ensembl_id": "ENSG00000177613", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cleavage stimulation factor subunit 2 tau variant [Source:HGNC Symbol,Acc:HGNC:17086]", "omim_id": "611968", "functional_summary": "CSTF2T has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00076", "PF14304", "PF14327"], "domain_descriptions": ["RNA recognition motif domain", "Nucleotide-binding alpha-beta plait domain superfamily", "Cleavage stimulation factor subunit 2", "hinge domain", "Transcription termination and cleavage factor", "C-terminal domain", "RNA-binding domain superfamily", "Transcription termination and cleavage factor", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000177613", "synonym": "CSTF-64T, DKFZP434C1013, KIAA0689, TAUCSTF-64", "ortholog_mouse": "Cstf2t", "ortholog_c_elegans": "cpf-2", "ortholog_xenopus": "cstf2", "ortholog_drosophila": "CstF64", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.3798, "sd_percent_ciliated": 3.0491, "z_score": -0.3186, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0734, "sd_percent_ciliated": 0.0734, "z_score": 0.0734, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5282, "sd_percent_ciliated": -0.5282, "z_score": -0.5282, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CSTPP1", "ensembl_id": "ENSG00000149179", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "centriolar satellite-associated tubulin polyglutamylase complex regulator 1 [Source:HGNC Symbol,Acc:HGNC:28720]", "omim_id": "620479", "functional_summary": "C11ORF49/CSTPP1-TPGC plays mechanistically distinct roles in the regulation of nuclear shape and cilium disassembly (34782749).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.4782749E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000149179", "synonym": "C11ORF49, FLJ22210, MGC4707", "ortholog_mouse": "Cstpp1", "ortholog_xenopus": "cstpp1", "ortholog_zebrafish": "cstpp1", "screens": {} }, { "gene": "CTNNB1", "ensembl_id": "ENSG00000168036", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "catenin beta 1 [Source:HGNC Symbol,Acc:HGNC:2514]", "omim_id": "116806", "functional_summary": "Component of the intercentrosomal linker and a key regulator of mitotic centrosome separation (18086858). Required for Kupffer鈥檚 vesicle (KV) and cilia formation, and organ laterality. Ctnnb1/2 activity in dorsal forerunner cells is required for cilia formation by controlling the expression of a set of transcription factors (22535411). Interacts with TCF family members, activating Wnt target genes (15852005). Ciliary deconstruction initiates the formation of metastasising melanoma by promoting WNT/尾-catenin sig ling (30008323).", "localization": "basal body,cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "18086858, 22535411, 15852005, 30008323, 10192393, 10666372 ,10192393, 10666372", "complex_components": ["CDH1", "CTNNB1", "PKD1", "FLOT2", "CDH5", "PARD3", "CTNNA1", "PSEN1", "JUN", "TCF4", "SDCBP", "AXIN1", "GSK3B", "PPP2R5A", "APC", "TCF7L2", "CTNNAL1", "ACTN1", "BCAR1", "JUP", "PTK2", "PXN", "SRC", "TLN1", "VCL", "EP300", "HDAC6", "SUMO1", "CREBBP", "ARHGAP10", "KDR", "TJP1", "AR", "CTNNBIP1", "DLG5", "SORBS3", "CDH2", "DLL1", "AFDN", "DNMT1", "AMOT", "CDH11", "CTNND1", "BCL9", "SETD7", "YAP1", "SOX4", "HMMR", "PDLIM1", "OVOL2", "TBX5", "GLIS2", "FERMT2", "YBX1", "GID8", "GLI3", "PHF19", "BTRC", "ESR1", "DDX5", "HDGF", "EPCAM", "FHL2", "LEF1", "RUNX3", "HDAC7", "YWHAE", "YWHAH", "YWHAZ", "YES1"], "pfam_ids": "PF00514", "domain_descriptions": ["Armadillo", "Armadillo-like helical", "Beta-catenin", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000168036", "synonym": "ARMADILLO, BETA-CATENIN, CTNNB", "ciliopathy": "Medulloblastoma", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ctnnb1", "ortholog_c_elegans": "hmp-2", "ortholog_xenopus": "ctnnb1", "ortholog_zebrafish": "ctnnb1, ctnnb2", "ortholog_drosophila": "arm", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.3112, "sd_percent_ciliated": 7.7801, "z_score": 0.5212, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.46, "sd_percent_ciliated": 4.46, "z_score": 4.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3062, "sd_percent_ciliated": -3.3062, "z_score": -3.3062, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CTNND1", "ensembl_id": "ENSG00000198561", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "catenin delta 1 [Source:HGNC Symbol,Acc:HGNC:2515]", "omim_id": "601045", "functional_summary": "CTNND1 has localized in basal body.", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CD2AP", "CTNND1", "NPHS1", "TJP1", "CDH3", "AMOT", "CDH11", "CTNNB1", "GLIS2", "RHOH", "MTNR1B"], "pfam_ids": "PF00514", "domain_descriptions": ["Armadillo", "Armadillo-like helical", "Armadillo-type fold", "Plakophilin/Delta catenin"], "string_link": "https://string-db.org/network/9606/ENSG00000198561", "synonym": "CTNND, KIAA0384, P120, P120CAS, P120CTN", "ortholog_mouse": "Ctnnd1", "ortholog_c_elegans": "jac-1", "ortholog_xenopus": "ctnnd1", "ortholog_zebrafish": "ctnnd1", "ortholog_drosophila": "p120ctn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.171, "sd_percent_ciliated": 4.9846, "z_score": -1.5554 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.01, "sd_percent_ciliated": 4.01, "z_score": 4.01 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.7875, "sd_percent_ciliated": -4.7875, "z_score": -4.7875 } ] }, { "gene": "CTXN3", "ensembl_id": "ENSG00000205279", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cortexin 3 [Source:HGNC Symbol,Acc:HGNC:31110]", "omim_id": "618746", "functional_summary": "CTXN3 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF11057", "domain_descriptions": "Cortexin", "string_link": "https://string-db.org/network/9606/ENSG00000205279", "ortholog_mouse": "Ctxn3", "ortholog_xenopus": "ctxn3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.23, "sd_percent_ciliated": 1.23, "z_score": 1.23, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0022, "sd_percent_ciliated": -0.0022, "z_score": -0.0022, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CUL7", "ensembl_id": "ENSG00000044090", "overexpression_effects": "no effect", "lof_effects": "no effect", "percent_ciliated_cells_effects": "decreased cilia number", "description": "cullin 7 [Source:HGNC Symbol,Acc:HGNC:21024]", "omim_id": "609577", "functional_summary": "Mutated in M3 syndrome. Fibroblast with CUL7 homozygous mutations showed significantly fewer cilia than wild-type. Nevertheless, cilia could be restored by overexpression of wild type CUL7, suggesting that 3M syndrome is indeed a ciliopathy ( 27173435).", "localization": "Ciliary associated gene, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "27173435, DOI: 10.1038/ncomms11491", "complex_components": ["CUL7", "FBXW8", "RBX1", "SKP1", "CCDC8", "OBSL1", "CUL9", "TP53", "ANKRA2"], "pfam_ids": ["PF24742", "PF00888", "PF23168", "PF03256", "PF11515"], "domain_descriptions": ["Cullin", "N-terminal", "APC10/DOC domain", "Galactose-binding-like domain superfamily", "Large ribosomal subunit protein uL2", "domain 2", "Armadillo-type fold", "Cullin homology domain", "Cullin protein", "neddylation domain", "CPH domain", "Cullin homology domain superfamily", "Winged helix-like DNA-binding domain superfamily", "Cullin", "CUL7/CUL9", "N-terminal beta-barrel domain", "CUL7/CUL9", "ARM-repeats domain"], "string_link": "https://string-db.org/network/9606/ENSG00000044090", "synonym": "DJ20C7.5, KIAA0076", "ortholog_mouse": "Cul7", "ortholog_xenopus": "cul9", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.4691, "sd_percent_ciliated": 0.7676, "z_score": 1.2673 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.26, "sd_percent_ciliated": 1.26, "z_score": 1.26 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1882, "sd_percent_ciliated": -0.1882, "z_score": -0.1882 } ] }, { "gene": "CWH43", "ensembl_id": "ENSG00000109182", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "decreased cilia number", "description": "cell wall biogenesis 43 C-terminal homolog [Source:HGNC Symbol,Acc:HGNC:26133]", "omim_id": "618561", "functional_summary": "Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419). Decreased numbers of ependymal cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "38100419, 33459505", "complex_components": {}, "pfam_ids": ["PF23021", "PF23022", "PF23226"], "domain_descriptions": ["Endonuclease/exonuclease/phosphatase superfamily", "GPI-anchor maturation lipid remodeler", "PGAP2IP", "second transmembrane domain", "PGAP2IP", "first transmembrane domain"], "string_link": "https://string-db.org/network/9606/ENSG00000109182", "synonym": "CWH43-C, FLJ21511, PGAP2IP", "ortholog_mouse": "Cwh43", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0406, "sd_percent_ciliated": 0.0406, "z_score": 0.0406, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7775, "sd_percent_ciliated": -2.7775, "z_score": -2.7775, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CX3CL1", "ensembl_id": "ENSG00000006210", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "C-X3-C motif chemokine ligand 1 [Source:HGNC Symbol,Acc:HGNC:10647]", "omim_id": "601880", "functional_summary": "CX3CR1 is expressed in the motile cilia of differentiated human airway epithelial (HAE) cells and CX3CR1 is expressed in differentiated human ciliated airway cells and co-localizes with respiratory syncytial virus on cilia in a G protein-dependent manner(26107373).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.6107373E7", "complex_components": {}, "pfam_ids": "PF00048", "domain_descriptions": ["Chemokine interleukin-8-like domain", "CX3C chemokine domain", "Chemokine interleukin-8-like superfamily", "Chemokine beta/gamma/delta"], "string_link": "https://string-db.org/network/9606/ENSG00000006210", "synonym": "ABCD-3, C3XKINE, CXC3, CXC3C, NTN, SCYD1", "ortholog_mouse": "Cx3cl1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.0944, "sd_percent_ciliated": 1.4732, "z_score": -0.7166 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.14, "sd_percent_ciliated": 0.14, "z_score": 0.14 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.7788, "sd_percent_ciliated": -4.7788, "z_score": -4.7788 } ] }, { "gene": "CXCL12", "ensembl_id": "ENSG00000107562", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "C-X-C motif chemokine ligand 12 [Source:HGNC Symbol,Acc:HGNC:10672]", "omim_id": "600835", "functional_summary": "CXCL12 targets the primary cilium cAMP/cGMP ratio to regulate cell polarity during migration, and CXCL12 secreted by SVZ cortical progenitors binds to ciliary-located CXCR4 receptors on tangentially migrating MGE cells, thereby reducing ciliary cAMP levels(38049397).", "localization": "cilia, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "3.8049397E7", "complex_components": ["CXCL12", "CXCR4"], "pfam_ids": "PF00048", "domain_descriptions": ["Chemokine interleukin-8-like domain", "CXC Chemokine domain", "Chemokine interleukin-8-like superfamily", "Chemokine beta/gamma/delta"], "string_link": "https://string-db.org/network/9606/ENSG00000107562", "synonym": "PBSF, SCYB12, SDF-1A, SDF-1B, SDF1, SDF1A, SDF1B, TLSF-A, TLSF-B, TPAR1", "ortholog_mouse": "Cxcl12", "ortholog_xenopus": "cxcl12", "ortholog_zebrafish": "cxcl12a, cxcl12b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.1355, "sd_percent_ciliated": 7.927, "z_score": -0.3482, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.2638, "sd_percent_ciliated": 1.2638, "z_score": 1.2638, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CXCL5", "ensembl_id": "ENSG00000163735", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "C-X-C motif chemokine ligand 5 [Source:HGNC Symbol,Acc:HGNC:10642]", "omim_id": "600324", "functional_summary": "Mechanical stimulation inhibits osteoclast recruitment and differentiation through CXCL5, while PTH1R activation regulate these processes via IL-6 ( 35933642).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5933642E7", "complex_components": {}, "pfam_ids": "PF00048", "domain_descriptions": ["CXC chemokine", "Chemokine interleukin-8-like domain", "CXC chemokine", "conserved site", "CXC Chemokine domain", "Chemokine interleukin-8-like superfamily", "Chemokine beta/gamma/delta"], "string_link": "https://string-db.org/network/9606/ENSG00000163735", "synonym": "ENA-78, SCYB5", "ortholog_mouse": "Cxcl5", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.6523, "sd_percent_ciliated": 10.0579, "z_score": -0.5279, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" } ] }, { "gene": "CXCR2", "ensembl_id": "ENSG00000180871", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "C-X-C motif chemokine receptor 2 [Source:HGNC Symbol,Acc:HGNC:6027]", "functional_summary": "CXCR2 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CXCR2", "NHERF1", "PLCB3", "IQGAP1", "YWHAG", "VASP", "ADRA1A", "CXCR1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000180871", "synonym": "CD182, CMKAR2, IL8RB", "ortholog_mouse": "Cxcr2", "ortholog_xenopus": "cxcr2", "ortholog_zebrafish": "cxcr2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0014, "sd_percent_ciliated": 0.0014, "z_score": 0.0014, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8253, "sd_percent_ciliated": -1.8253, "z_score": -1.8253, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CXCR4", "ensembl_id": "ENSG00000121966", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "C-X-C motif chemokine receptor 4 [Source:HGNC Symbol,Acc:HGNC:2561]", "omim_id": "162643", "functional_summary": "CXCR4, receptor for CXCL12, localized to primary cilia(23153492).", "localization": "cilia, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.3153492E7", "complex_components": ["CXCR4", "GNAI2", "GNB1", "IGF1R", "ADRA1A", "ADRA1B", "CXCL12", "GDF5", "HSP90AA1", "HSPA8", "OPRD1", "ACKR3", "AVPR1A", "ADRA1D", "CNIH4", "CCR5", "CD4", "CCR2", "CXCR3", "CMKLR1", "CNR2"], "pfam_ids": ["PF12109", "PF00001"], "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Chemokine receptor family", "CXC chemokine receptor 4/atypical chemokine receptor 2", "GPCR", "rhodopsin-like", "7TM", "CXC chemokine receptor 4 N-terminal domain", "C-C chemokine receptor type 1-9-like"], "string_link": "https://string-db.org/network/9606/ENSG00000121966", "synonym": "CD184, D2S201E, FUSIN, HM89, HSY3RR, LESTR, NPY3R, NPYR, NPYY3R", "ortholog_mouse": "Cxcr4", "ortholog_xenopus": "cxcr4", "ortholog_zebrafish": "cxcr4a, cxcr4b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.6331, "sd_percent_ciliated": 3.227, "z_score": 0.3179 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.98, "sd_percent_ciliated": 1.98, "z_score": 1.98 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.0368, "sd_percent_ciliated": -2.0368, "z_score": -2.0368 } ] }, { "gene": "CXorf66", "ensembl_id": "ENSG00000203933", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "chromosome X open reading frame 66 [Source:HGNC Symbol,Acc:HGNC:33743]", "functional_summary": "CXorf66 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000203933", "synonym": "RP11-35F15.2, SGPX", "ortholog_mouse": "Gm7073", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -2.636, "sd_percent_ciliated": -2.636, "z_score": -2.636, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CYB5R3", "ensembl_id": "ENSG00000100243", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytochrome b5 reductase 3 [Source:HGNC Symbol,Acc:HGNC:2873]", "omim_id": "613213", "functional_summary": "CYB5R3 has localized in flagella.", "localization": "flagella, Cytosol, Endoplasmic, Endosome, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["CYB5A", "CYB5R3", "MTARC2"], "pfam_ids": ["PF00175", "PF00970"], "domain_descriptions": ["Oxidoreductase FAD/NAD(P)-binding", "Flavoprotein pyridine nucleotide cytochrome reductase", "NADH:cytochrome b5 reductase-like", "Flavoprotein pyridine nucleotide cytochrome reductase-like", "FAD-binding domain", "FAD-binding domain", "ferredoxin reductase-type", "Riboflavin synthase-like beta-barrel", "Ferredoxin-NADP reductase (FNR)", "nucleotide-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000100243", "synonym": "B5R, DIA1", "ortholog_mouse": "Cyb5r3", "ortholog_c_elegans": "hpo-19, T05H4.4", "ortholog_xenopus": "cyb5r3", "ortholog_zebrafish": "cyb5r3", "ortholog_drosophila": "CG5946", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0275, "sd_percent_ciliated": 0.0275, "z_score": 0.0275, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.2219, "sd_percent_ciliated": -5.2219, "z_score": -5.2219, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CYLD", "ensembl_id": "ENSG00000083799", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "CYLD lysine 63 deubiquitinase [Source:HGNC Symbol,Acc:HGNC:2584]", "omim_id": "605018", "functional_summary": "Deconjugation of the polyubiquitin chain from centrosomal protein Cep70 and promotes ciliogenesis by inhibiting the tubulin deacetylase activity of HDAC6. Regulation of the docking of basal bodies to the apical plasma membrane. CYLD is also required for proper organization of basal bodies and axenomes (25342559). CYLD may control the centriolar satellites proteostasis by preventing the proteasomal degradation of PCM1 (31067453).", "localization": "basal body ,transition zone, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "25342559, 31067453 ,25342559", "complex_components": ["CYLD", "SPATA2", "ITCH", "BIRC2", "BIRC3", "CHUK", "HTRA2", "IKBKB", "IKBKE", "IKBKG", "MAP3K7", "RBCK1", "RIPK1", "RNF31", "SHARPIN", "TAB2", "TANK", "TBK1", "TNF", "TNFAIP3", "TNFRSF1A", "TNIP1", "TNIP2", "TRADD", "TRAF2", "RIGI", "SDC4"], "pfam_ids": ["PF00443", "PF16607", "PF01302"], "domain_descriptions": ["CAP Gly-rich domain", "Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "CAP Gly-rich domain superfamily", "Papain-like cysteine peptidase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000083799", "synonym": "CYLD1, KIAA0849, USPL2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cyld", "ortholog_c_elegans": "cyld-1", "ortholog_xenopus": "cyld", "ortholog_zebrafish": "cyld, cyld2", "ortholog_drosophila": "CYLD", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.8678, "sd_percent_ciliated": 10.5134, "z_score": 0.3463 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.522, "sd_percent_ciliated": 0.522, "z_score": 0.522 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.0466, "sd_percent_ciliated": -2.0466, "z_score": -2.0466 } ] }, { "gene": "CYP7A1", "ensembl_id": "ENSG00000167910", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cytochrome P450 family 7 subfamily A member 1 [Source:HGNC Symbol,Acc:HGNC:2651]", "omim_id": "118455", "functional_summary": "Hedgehog stimulation positively regulates the oxysterol synthase CYP7A1, which accumulates near the ciliary base and produces oxysterols that promote Hedgehog sig ling in response to pathway activation (33284321).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3284321E7", "complex_components": {}, "pfam_ids": "PF00067", "domain_descriptions": ["Cytochrome P450", "Cytochrome P450", "E-class", "group IV", "Cytochrome P450", "conserved site", "Cytochrome P450", "cholesterol 7-alpha-monooxygenase-type", "Cholesterol 7-alpha-monooxygenase", "Cytochrome P450 superfamily", "Cytochrome P450", "sterol 14-alpha demethylase"], "string_link": "https://string-db.org/network/9606/ENSG00000167910", "synonym": "CYP7", "ortholog_mouse": "Cyp7a1", "ortholog_xenopus": "cyp7a1", "ortholog_zebrafish": "cyp7a1, cyp7a1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.3206, "sd_percent_ciliated": 11.3182, "z_score": 0.6435, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8361, "sd_percent_ciliated": -0.8361, "z_score": -0.8361, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "CYS1", "ensembl_id": "ENSG00000205795", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "cystin 1 [Source:HGNC Symbol,Acc:HGNC:18525]", "omim_id": "618713", "functional_summary": "Cystin may not involved in a ciliogenic pathway, but would rather play a novel role in ciliary function. It bounds to the axonemal membrane and may function as part of a molecular scaffold that stabilizes microtubule assembly within the ciliary axoneme (11854326).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane", "reference": "11854326, 34521872 ,34521872", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000205795", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Cys1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.133, "sd_percent_ciliated": 6.1948, "z_score": 0.015, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1513, "sd_percent_ciliated": -1.1513, "z_score": -1.1513, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DAAM1", "ensembl_id": "ENSG00000100592", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "dishevelled associated activator of morphogenesis 1 [Source:HGNC Symbol,Acc:HGNC:18142]", "omim_id": "606626", "functional_summary": "DAAM1 is present within the the actin-rich base of multiciliated epidermal cells of the X. laevis skin where it regulates the actin network that stabilizes cilia. Loss of Daam1 in motile cilia results in their loss of polarity(26644512). Loss of the PCP component Daam1 negatively regulates ciliogenesis in MDCKII and IMCD3 cells. Daam1 knockdown within these mammalian kidney epithelial cells result in the formation of fewer cilia. Ciliogenesis in MDCKII cells depends on the formin activity of Daam1. In MDCKII and IMCD3 cells Daam1 localizes to vesicles that carry ciliary components(31469868).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "26644512 , 31469868", "complex_components": ["DAAM1", "INTU", "NPHP4"], "pfam_ids": ["PF06371", "PF02181", "PF06367"], "domain_descriptions": ["Formin", "FH3 domain", "Formin", "GTPase-binding domain", "Armadillo-like helical", "Diaphanous autoregulatory (DAD) domain", "Rho GTPase-binding/formin homology 3 (GBD/FH3) domain", "Formin", "FH2 domain", "Armadillo-type fold", "Formin", "FH2 domain superfamily", "Formin Homology"], "string_link": "https://string-db.org/network/9606/ENSG00000100592", "synonym": "KIAA0666", "ortholog_mouse": "Daam1", "ortholog_c_elegans": "daam-1", "ortholog_xenopus": "daam1", "ortholog_zebrafish": "daam1a, daam1b", "ortholog_drosophila": "DAAM", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.4045, "sd_percent_ciliated": 11.7199, "z_score": -0.8002, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.251, "sd_percent_ciliated": 0.251, "z_score": 0.251, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7574, "sd_percent_ciliated": -0.7574, "z_score": -0.7574, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DAB1", "ensembl_id": "ENSG00000173406", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "DAB adaptor protein 1 [Source:HGNC Symbol,Acc:HGNC:2661]", "omim_id": "603448", "functional_summary": "Mutations in the DAB1 gene cause Spinocerebellar Ataxia (PMID: 28686858).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion", "reference": "2.8686858E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173406", "ortholog_mouse": "Dab1", "ortholog_c_elegans": "dab-1", "ortholog_xenopus": "dab1", "ortholog_zebrafish": "dab1a, dab1b", "ortholog_drosophila": "Dab", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.1505, "sd_percent_ciliated": 11.0115, "z_score": -0.3464, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.97, "sd_percent_ciliated": 1.97, "z_score": 1.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.9553, "sd_percent_ciliated": -3.9553, "z_score": -3.9553, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DACT1", "ensembl_id": "ENSG00000165617", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "dishevelled binding antagonist of beta catenin 1 [Source:HGNC Symbol,Acc:HGNC:17748]", "omim_id": "607861", "functional_summary": "Mutations in the DACT1 gene cause Townes-Brocks Syndrome (PMID: 36066768).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "3.6066768E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000165617", "synonym": "DAPPER, DAPPER1, FRODO, HDPR1, THYEX3", "ortholog_mouse": "Dact1", "ortholog_xenopus": "dact1", "ortholog_zebrafish": "dact1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.9051, "sd_percent_ciliated": 2.4842, "z_score": -0.1338, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.406, "sd_percent_ciliated": 0.406, "z_score": 0.406, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3016, "sd_percent_ciliated": -4.3016, "z_score": -4.3016, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DAPK3", "ensembl_id": "ENSG00000167657", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "death associated protein kinase 3 [Source:HGNC Symbol,Acc:HGNC:2676]", "omim_id": "603289", "functional_summary": "DAPK3 has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "DAPK3", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167657", "synonym": "ZIP, ZIPK", "ortholog_mouse": "Dapk3", "ortholog_c_elegans": "dapk-1", "ortholog_xenopus": "dapk3", "ortholog_zebrafish": "dapk3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.6647, "sd_percent_ciliated": 9.091, "z_score": 0.3217 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.77, "sd_percent_ciliated": 1.77, "z_score": 1.77 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.42, "sd_percent_ciliated": -1.42, "z_score": -1.42 } ] }, { "gene": "DAW1", "ensembl_id": "ENSG00000123977", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not reported", "description": "dynein assembly factor with WD repeats 1 [Source:HGNC Symbol,Acc:HGNC:26383]", "omim_id": "620279", "functional_summary": "Also known as ODA16. Adaptor between intraflagellar transport proteins and outer arm dynein during ciliary assembly, needed for efficient dynein transport from the cytoplasm to the flagellar compartment. (20568242, 18852297, 28298440)", "localization": "flagella, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "20568242, 18852297, 28298440 ,20568242, 21953912", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000123977", "synonym": "DNAAF18, FLJ25955, ODA16, WDR69", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Daw1", "ortholog_xenopus": "daw1", "ortholog_zebrafish": "daw1", "ortholog_drosophila": "CG7568", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.602, "sd_percent_ciliated": 0.602, "z_score": 0.602, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DBN1", "ensembl_id": "ENSG00000113758", "overexpression_effects": "longer cilia", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "not reported", "description": "drebrin 1 [Source:HGNC Symbol,Acc:HGNC:2695]", "omim_id": "126660", "functional_summary": "DBN1 and hCDC14A contribute to cilia length control by regulating the actin nucleator Arp2 at the basal body. hCDC14A has additio l, DBN1 independent functions in endocytosis and transport of myosin Va marked vesicles to the basal body(30467237). Overexpression of DBN1 or RPE1 WT cells significantly increased cilia length.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "30467237, 30467237", "complex_components": {}, "pfam_ids": "PF00241", "domain_descriptions": ["Actin-depolymerising factor homology domain", "ADF-H/Gelsolin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000113758", "synonym": "D0S117E", "ortholog_mouse": "Dbn1", "ortholog_xenopus": "dbn1", "ortholog_zebrafish": "dbn1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.6069, "sd_percent_ciliated": 5.7414, "z_score": 0.3147, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0639, "sd_percent_ciliated": -2.0639, "z_score": -2.0639, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DBNDD1", "ensembl_id": "ENSG00000003249", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dysbindin domain containing 1 [Source:HGNC Symbol,Acc:HGNC:28455]", "omim_id": "620388", "functional_summary": "DBNDD1 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF04440", "domain_descriptions": "Dysbindin", "string_link": "https://string-db.org/network/9606/ENSG00000003249", "synonym": "FLJ12582, MGC3101", "ortholog_mouse": "Dbndd1", "ortholog_xenopus": "dbndd1", "ortholog_zebrafish": "dbndd1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.17, "sd_percent_ciliated": 2.17, "z_score": 2.17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5173, "sd_percent_ciliated": -1.5173, "z_score": -1.5173, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DCC", "ensembl_id": "ENSG00000187323", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DCC netrin 1 receptor [Source:HGNC Symbol,Acc:HGNC:2701]", "omim_id": "120470", "functional_summary": "DCC has localized in primary cilia ,basal body.", "localization": "cilia,basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADORA2B", "DCC"], "pfam_ids": ["PF00041", "PF06583", "PF07679", "PF13927"], "domain_descriptions": ["Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Neogenin", "C-terminal", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Striated Muscle Structural and Regulatory Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000187323", "synonym": "IGDCC1, NTN1R1", "ortholog_mouse": "Dcc", "ortholog_c_elegans": "unc-40", "ortholog_xenopus": "dcc", "ortholog_zebrafish": "dcc", "ortholog_drosophila": "fra", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.4642, "sd_percent_ciliated": 4.6251, "z_score": 0.2974 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.166, "sd_percent_ciliated": 0.166, "z_score": 0.166 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2987, "sd_percent_ciliated": -1.2987, "z_score": -1.2987 } ] }, { "gene": "DCDC2", "ensembl_id": "ENSG00000146038", "overexpression_effects": "longer cilia", "lof_effects": "no effect", "percent_ciliated_cells_effects": "not reported", "description": "doublecortin domain containing 2 [Source:HGNC Symbol,Acc:HGNC:18141]", "omim_id": "605755", "functional_summary": "Functio l role in ciliary sig ling . DCDC2 overexpression increases ciliary length and enhances the Kif3a mediated translocation of Smo to the cilium, resulting in overactivation of the Shh pathway in neurons (21698230). Regulation of microtubule nucleation, stability and length in hair cells (25601850). Overexpression inhibits 尾- catenin-dependent Wnt sig ling (25557784). The increase in ciliary length could also be seen in NIH/3T3 cells overexpressing DCDC2.", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "21698230, 25601850, 25557784, 27319779, 25557784, 21698230 ,25557784; 27319779", "complex_components": ["DCDC2", "MAPK8IP1"], "pfam_ids": "PF03607", "domain_descriptions": ["Doublecortin domain", "Doublecortin domain-containing protein 2", "doublecortin-like domain 2", "Doublecortin domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000146038", "synonym": "DCDC2A, DFNB66, KIAA1154, NPHP19, RU2", "ciliopathy": "Nephronophthisis; Neonatal Sclerosing Cholangitis", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dcdc2a", "ortholog_c_elegans": "C06C3.3", "ortholog_xenopus": "dcdc2", "ortholog_zebrafish": "dcdc2b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.8368, "sd_percent_ciliated": 7.9223, "z_score": 0.3426, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4865, "sd_percent_ciliated": -0.4865, "z_score": -0.4865, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DCDC2C", "ensembl_id": "ENSG00000214866", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "doublecortin domain containing 2C [Source:HGNC Symbol,Acc:HGNC:32696]", "functional_summary": "DCDC2C has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF03607", "domain_descriptions": ["Doublecortin domain", "Doublecortin domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000214866", "ortholog_mouse": "Dcdc2c", "ortholog_c_elegans": "C06C3.3, rpi-1, W07G1.1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DCST1", "ensembl_id": "ENSG00000163357", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DC-STAMP domain containing 1 [Source:HGNC Symbol,Acc:HGNC:26539]", "omim_id": "619860", "functional_summary": "DCST1 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF07782", "domain_descriptions": ["Zinc finger", "RING-type", "Dendritic cell-specific transmembrane protein-like", "Cell Surface Receptor and E3 Ligase Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000163357", "synonym": "FLJ32785", "ortholog_mouse": "Dcst1", "ortholog_c_elegans": "spe-49", "ortholog_xenopus": "LOC101731982, LOC101732050, LOC101734054", "ortholog_zebrafish": "dcst1", "ortholog_drosophila": "snky", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.8391, "sd_percent_ciliated": 1.5044, "z_score": 0.3428, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.348, "sd_percent_ciliated": 0.348, "z_score": 0.348, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5234, "sd_percent_ciliated": -1.5234, "z_score": -1.5234, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DCTN1", "ensembl_id": "ENSG00000204843", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynactin subunit 1 [Source:HGNC Symbol,Acc:HGNC:2711]", "omim_id": "601143", "functional_summary": "DCTN1 has localized in primary cilia ,basal body", "localization": "cilia,basal body, Centrosome, Cytosol, Endosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,33924373 *", "complex_components": ["ACTR1A", "CAPZA1", "CAPZB", "DCTN1", "DCTN2", "DCTN3", "DCTN4", "DCTN6", "HSPA1A", "LCA5", "NCL", "NPM1", "YWHAE", "DYNC1H1", "DYNC1I1", "DYNC1LI1", "DYNLL1", "Dctn1", "Dctn2", "Dync1i1", "ACTB", "ACTR10", "ACTR1B", "CAPZA2", "DCTN5", "BICD2", "NUDC", "PLK1", "OSBPL1A", "RAB7A", "RILP", "CEP128", "CEP170", "CNTRL", "KIF2A", "NIN", "ODF2"], "pfam_ids": ["PF01302", "PF12455"], "domain_descriptions": ["CAP Gly-rich domain", "Dynein associated protein", "CAP Gly-rich domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000204843", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dctn1", "ortholog_c_elegans": "dnc-1", "ortholog_xenopus": "dctn1", "ortholog_zebrafish": "dctn1a, dctn1b", "ortholog_drosophila": "DCTN1-p150, Dred", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.758, "sd_percent_ciliated": 15.0305, "z_score": -0.8785 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.59, "sd_percent_ciliated": 0.59, "z_score": 0.59 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3355, "sd_percent_ciliated": -0.3355, "z_score": -0.3355 } ] }, { "gene": "DCTN2", "ensembl_id": "ENSG00000175203", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynactin subunit 2 [Source:HGNC Symbol,Acc:HGNC:2712]", "omim_id": "607376", "functional_summary": "DCTN2 has localized in basal body.", "localization": "basal body, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,32312818 *", "complex_components": ["ACTR1A", "CAPZA1", "CAPZB", "DCTN1", "DCTN2", "DCTN3", "DCTN4", "DCTN6", "HSPA1A", "LCA5", "NCL", "NPM1", "YWHAE", "ACTB", "ACTR10", "ACTR1B", "CAPZA2", "DCTN5"], "pfam_ids": "PF04912", "domain_descriptions": "Dynamitin", "string_link": "https://string-db.org/network/9606/ENSG00000175203", "synonym": "DCTN-50, RBP50", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dctn2", "ortholog_c_elegans": "dnc-2", "ortholog_xenopus": "dctn2", "ortholog_zebrafish": "dctn2", "ortholog_drosophila": "DCTN2-p50", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.5575, "sd_percent_ciliated": 7.1162, "z_score": 1.3991 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.52, "sd_percent_ciliated": 1.52, "z_score": 1.52 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.7844, "sd_percent_ciliated": -5.7844, "z_score": -5.7844 } ] }, { "gene": "DCTN3", "ensembl_id": "ENSG00000137100", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynactin subunit 3 [Source:HGNC Symbol,Acc:HGNC:2713]", "omim_id": "607387", "functional_summary": "DCTN3 has localized in flagella.", "localization": "flagella, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["ACTR1A", "CAPZA1", "CAPZB", "DCTN1", "DCTN2", "DCTN3", "DCTN4", "DCTN6", "ACTB", "ACTR10", "ACTR1B", "CAPZA2", "DCTN5"], "pfam_ids": "PF07426", "domain_descriptions": "Dynactin subunit 3", "string_link": "https://string-db.org/network/9606/ENSG00000137100", "synonym": "DCTN-22", "ortholog_mouse": "Dctn3", "ortholog_xenopus": "dctn3", "ortholog_zebrafish": "dctn3", "ortholog_drosophila": "DCTN3-p24", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.09, "sd_percent_ciliated": 3.09, "z_score": 3.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5211, "sd_percent_ciliated": -2.5211, "z_score": -2.5211, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DDB1", "ensembl_id": "ENSG00000167986", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "damage specific DNA binding protein 1 [Source:HGNC Symbol,Acc:HGNC:2717]", "omim_id": "600045", "functional_summary": "CEP78 interacts with the EDD1-DYRK2-DDB1VPRBP E3 ubiquitin ligase complex, which is involved in CP110 ubiquiti tion and degradation, and identified a novel interaction between CEP78 and CEP350 that is weakened by the CEP78L150S mutation(34259627). Cep78 controls centrosome homeostasis by inhibiting EDD鈥怐YRK2鈥怐DB1Vpr BP (28242748)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Reproduction & sperm, Viral interactions", "reference": "34259627 , 28242748", "complex_components": ["CUL4A", "DDB1", "RBX1", "COPS2", "COPS3", "COPS4", "COPS5", "COPS6", "COPS7A", "COPS8", "DDB2", "GPS1", "ERCC8", "POLR2A", "BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "CUL4B", "AHR", "ARNT", "TBL3", "COP1", "DET1", "ABCF2", "CDC5L", "DDX23", "EEF1A1", "EEF1G", "EFTUD2", "HNRNPU", "MATR3", "MSH2", "PFKL", "PRPF8", "SFPQ", "SNRNP200", "SNW1", "TUBB", "UBR5", "CDT1", "DCAF1", "DYRK2", "BTRC", "DDIT4", "DTL", "TLE2", "EED", "WDR5", "WDR26", "RBBP5", "WDR5B", "SNRNP40", "SKIC8", "GRWD1", "TLE1", "TLE3", "CRBN", "WDTC1", "PARP1", "XPC"], "pfam_ids": ["PF10433", "PF03178", "PF23726"], "domain_descriptions": ["Cleavage/polyadenylation specificity factor", "A subunit", "C-terminal", "WD40/YVTN repeat-like-containing domain superfamily", "RSE1/DDB1/CPSF1", "first beta-propeller domain", "WD40-repeat-containing domain superfamily", "RSE1/DDB1/CFT1/CPSF1", "Quinoprotein alcohol dehydrogenase-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000167986", "ortholog_mouse": "Ddb1", "ortholog_c_elegans": "ddb-1", "ortholog_xenopus": "ddb1", "ortholog_zebrafish": "ddb1", "ortholog_drosophila": "pic", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.1264, "z_score": -1.4404, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.1664, "z_score": -2.2829, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.4967 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 10.4, "z_score": 10.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 10.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -14.0239, "z_score": -14.0239, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -14.0239 } ] }, { "gene": "DDC", "ensembl_id": "ENSG00000132437", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dopa decarboxylase [Source:HGNC Symbol,Acc:HGNC:2719]", "omim_id": "107930", "functional_summary": "DCC has localized in primary cilia ,basal body.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AR", "DDC", "PIK3CA", "PIK3R1"], "pfam_ids": "PF00282", "domain_descriptions": ["Pyridoxal phosphate-dependent decarboxylase", "Aromatic-L-amino-acid decarboxylase", "Pyridoxal phosphate-dependent transferase", "major domain", "Pyridoxal phosphate-dependent transferase", "small domain", "Pyridoxal phosphate-dependent transferase", "Pyridoxal-phosphate binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000132437", "synonym": "AADC", "ortholog_mouse": "Ddc", "ortholog_c_elegans": "bas-1, basl-1, tdc-1", "ortholog_xenopus": "ddc", "ortholog_zebrafish": "ddc", "ortholog_drosophila": "amd, Ddc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.5046, "sd_percent_ciliated": 8.7402, "z_score": -0.9092, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.73, "sd_percent_ciliated": 3.73, "z_score": 3.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.1786, "sd_percent_ciliated": 1.1786, "z_score": 1.1786, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DDX59", "ensembl_id": "ENSG00000118197", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "decreased cilia number", "description": "DEAD-box helicase 59 [Source:HGNC Symbol,Acc:HGNC:25360]", "omim_id": "615464", "functional_summary": "Mutations in DDX59 cause an autosomal-recessive form of orofaciodigital syndrome, nevertheless, normal ciliogenesis is observed. Decrease in the number of ciliated cells upon DDX59 depletion.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "23972372, 23972372, ,23972372", "complex_components": {}, "pfam_ids": ["PF00270", "PF00271", "PF04438"], "domain_descriptions": ["Helicase", "C-terminal domain-like", "Zinc finger", "HIT-type", "DEAD/DEAH box helicase domain", "Helicase superfamily 1/2", "ATP-binding domain", "RNA helicase", "DEAD-box type", "Q motif", "P-loop containing nucleoside triphosphate hydrolase", "DEAD box RNA helicase"], "string_link": "https://string-db.org/network/9606/ENSG00000118197", "synonym": "DKFZP564B1023, ZNHIT5", "ciliopathy": "Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ddx59", "ortholog_xenopus": "ddx59", "ortholog_zebrafish": "ddx59", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.74, "sd_percent_ciliated": 6.74, "z_score": 6.74, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5398, "sd_percent_ciliated": -0.5398, "z_score": -0.5398, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DDX6", "ensembl_id": "ENSG00000110367", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DEAD-box helicase 6 [Source:HGNC Symbol,Acc:HGNC:2747]", "omim_id": "600326", "functional_summary": "CCHCR1 recruits P-body proteins to the centrosome through interacting with EDC4 via its N-terminal coiled-coil domain. Depletion of either CCHCR1 or P-body components EDC4 and DEAD-Box Helicase 6 (DDX6) impairs ciliogenesis(PMID: 40883668).", "localization": "Ciliary associated gene, Cytosol, P-body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions", "reference": "4.0883668E7", "complex_components": ["DCP1A", "DCP2", "DDX6", "EDC3", "EDC4", "CNOT1", "EIF4ENIF1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000110367", "synonym": "HLR2, RCK, RCK/P54", "ortholog_mouse": "Ddx6", "ortholog_c_elegans": "cgh-1", "ortholog_xenopus": "ddx6", "ortholog_zebrafish": "ddx6, ddx61", "ortholog_drosophila": "me31B", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.0406, "sd_percent_ciliated": 4.8817, "z_score": 1.2154 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.06, "sd_percent_ciliated": 8.06, "z_score": 8.06 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.5902, "sd_percent_ciliated": -0.5902, "z_score": -0.5902 } ] }, { "gene": "DEGS1", "ensembl_id": "ENSG00000143753", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "delta 4-desaturase, sphingolipid 1 [Source:HGNC Symbol,Acc:HGNC:13709]", "omim_id": "615843", "functional_summary": "The dihydroceramide desaturase DEGS1/2 ortholog TTM-5 is highly expressed in the EV-releasing sensory neurons, localizes to cilia, and is required for sustained but not initial ciliary EV release, implicating ceramide in ciliary ectocytosis(38838665).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8838665E7", "complex_components": {}, "pfam_ids": ["PF00487", "PF08557"], "domain_descriptions": ["Fatty acid desaturase domain", "Sphingolipid delta4-desaturase", "Sphingolipid delta4-desaturase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000143753", "synonym": "DEGS-1, DES-1, DES1, FADS7, MLD", "ortholog_mouse": "Degs1, Degs1l", "ortholog_c_elegans": "F33D4.4, ttm-5", "ortholog_xenopus": "degs1", "ortholog_zebrafish": "degs1", "ortholog_drosophila": "ifc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.14, "sd_percent_ciliated": 2.14, "z_score": 2.14, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3581, "sd_percent_ciliated": -4.3581, "z_score": -4.3581, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DENND1A", "ensembl_id": "ENSG00000119522", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Unknown", "description": "DENN domain containing 1A [Source:HGNC Symbol;Acc:HGNC:29324]", "omim_id": "613633", "functional_summary": "DENND1A is a guanine nucleotide exchange factor (GEF) that activates Rab GTPases, including Rab35. It plays a role in membrane trafficking processes, which are essential for ciliary function(PMID: 31432619).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.1432619E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000119522", "synonym": "FAM31A, FLJ21129, KIAA1608", "ortholog_mouse": "Dennd1a", "ortholog_c_elegans": "rme-4", "ortholog_xenopus": "dennd1a", "ortholog_zebrafish": "dennd1a", "ortholog_drosophila": "CG18659", "screens": [] }, { "gene": "DENND1B", "ensembl_id": "ENSG00000213047", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "DENN domain containing 1B [Source:HGNC Symbol,Acc:HGNC:28404]", "omim_id": "613292", "functional_summary": "Consistent with these observations, GFP-Rab35 localises to cilia, as do GEF (DENND1B) and GAP (TBC1D10A) Rab35 regulators, which also regulate ciliary length and Rab35 ciliary localisation(31432619). DENND1B depletion leads to significantly shorter cilia .", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "31432619, 31432619", "complex_components": {}, "pfam_ids": ["PF02141", "PF03456", "PF03455"], "domain_descriptions": ["cDENN domain", "dDENN domain", "uDENN domain", "Tripartite DENN domain", "DENN domain-containing protein 1A/1B/1C", "DENN domain", "C-terminal lobe"], "string_link": "https://string-db.org/network/9606/ENSG00000213047", "synonym": "C1ORF218, FAM31B, FLJ20054, MGC27044", "ortholog_mouse": "Dennd1b", "ortholog_c_elegans": "rme-4", "ortholog_xenopus": "dennd1b", "ortholog_zebrafish": "dennd1b", "ortholog_drosophila": "CG18659", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.851, "sd_percent_ciliated": 0.851, "z_score": 0.851, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4362, "sd_percent_ciliated": 0.4362, "z_score": 0.4362, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DEUP1", "ensembl_id": "ENSG00000165325", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "deuterosome assembly protein 1 [Source:HGNC Symbol,Acc:HGNC:26344]", "omim_id": "617148", "functional_summary": "Multicilin coopts the inhibitory E2fs to activate key components that drive centriole assembly during the centriolar cycle, such as Plk4, Cep152, and Stil, while also activating the expression of deup1, the paralog of cep63 required for centriole assembly via the deuterosome rather than the centriolar pathway(24240477, 24934224)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "24240477 , 24934224", "complex_components": {}, "pfam_ids": "PF17045", "domain_descriptions": ["Centrosomal protein Cep63/Deup1", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000165325", "synonym": "CCDC67, FLJ25393", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Deup1", "ortholog_xenopus": "deup1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DHCR7", "ensembl_id": "ENSG00000172893", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "7-dehydrocholesterol reductase [Source:HGNC Symbol,Acc:HGNC:2860]", "omim_id": "602858", "functional_summary": "DHCR7, an enzyme that produces cholesterol, activates the Hedgehog pathway, and localizes near the ciliary base(33284321) .", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "33284321, 33284321 ,33284321", "complex_components": ["DHCR24", "DHCR7"], "pfam_ids": "PF01222", "domain_descriptions": ["Sterol biosynthesis ERG24/DHCR-like", "Sterol reductase", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000172893", "synonym": "SLOS", "ciliopathy": "Smith-Lemli-Opitz Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dhcr7", "ortholog_c_elegans": "dhcr-7", "ortholog_xenopus": "dhcr7", "ortholog_zebrafish": "dhcr7", "ortholog_drosophila": "LBR", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.0198, "sd_percent_ciliated": 5.3413, "z_score": -1.6949 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0662, "sd_percent_ciliated": 0.0662, "z_score": 0.0662 } ] }, { "gene": "DHDDS", "ensembl_id": "ENSG00000117682", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dehydrodolichyl diphosphate synthase subunit [Source:HGNC Symbol,Acc:HGNC:20603]", "omim_id": "608172", "functional_summary": "Mutations in the DHDDS gene cause Retinitis Pigmentosa (PMID: 21295282, 10.1016/j.ajhg.2011.01.001).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "21295282, 10.1016/j.ajhg.2011.01.001", "complex_components": ["DHDDS", "NUS1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000117682", "synonym": "DS, FLJ13102, HCIT, HDS, RP59", "ortholog_mouse": "Dhdds", "ortholog_c_elegans": "T01G1.4", "ortholog_xenopus": "dhdds", "ortholog_zebrafish": "dhdds", "ortholog_drosophila": "Dhdds", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.7017, "sd_percent_ciliated": 5.9078, "z_score": -0.1584, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 25, "sd_percent_ciliated": 25, "z_score": 25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.0475, "sd_percent_ciliated": -13.0475, "z_score": -13.0475, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DHX35", "ensembl_id": "ENSG00000101452", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DEAH-box helicase 35 [Source:HGNC Symbol,Acc:HGNC:15861]", "functional_summary": "In CRCs, cancer cells contained single uniformly shaped CEP250 foci that colocalized with centrosome-associated spliceosome components DHX35(37250316) .", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "3.7250316E7", "complex_components": ["ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8"], "pfam_ids": ["PF21010", "PF07717", "PF00271", "PF04408"], "domain_descriptions": ["Helicase", "C-terminal domain-like", "DNA/RNA helicase", "ATP-dependent", "DEAH-box type", "conserved site", "Helicase-associated domain", "DEAD-box helicase", "OB fold", "Helicase superfamily 1/2", "ATP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Helicase associated domain (HA2)", "winged-helix domain"], "string_link": "https://string-db.org/network/9606/ENSG00000101452", "synonym": "C20ORF15, DDX35, FLJ22759, KAIA0875", "ortholog_mouse": "Dhx35", "ortholog_c_elegans": "ddx-35, Y108F1.5", "ortholog_xenopus": "dhx35", "ortholog_zebrafish": "dhx35", "ortholog_drosophila": "CG3225", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.8897, "sd_percent_ciliated": 0.8978, "z_score": -0.0145 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 27.9, "sd_percent_ciliated": 27.9, "z_score": 27.9 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.4519, "sd_percent_ciliated": -1.4519, "z_score": -1.4519 } ] }, { "gene": "DHX38", "ensembl_id": "ENSG00000140829", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DEAH-box helicase 38 [Source:HGNC Symbol,Acc:HGNC:17211]", "omim_id": "605584", "functional_summary": "Mutations in the DHX38 gene cause Retinitis Pigmentosa (PMID: 24737827).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "2.4737827E7", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8", "BCAS2", "BUD31", "CASC3", "CWC25", "PPIG", "YJU2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000140829", "synonym": "DDX38, HPRP16, KIAA0224, PRP16, PRPF16", "ortholog_mouse": "Dhx38", "ortholog_c_elegans": "mog-1", "ortholog_xenopus": "dhx38", "ortholog_zebrafish": "dhx38", "ortholog_drosophila": "Prp16", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.7993, "sd_percent_ciliated": 3.6862, "z_score": -1.4793 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.23, "sd_percent_ciliated": 1.23, "z_score": 1.23 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.7317, "sd_percent_ciliated": -10.7317, "z_score": -10.7317 } ] }, { "gene": "DHX57", "ensembl_id": "ENSG00000163214", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DExH-box helicase 57 [Source:HGNC Symbol,Acc:HGNC:20086]", "functional_summary": "The reciprocal ciliary localization patterns of CKAP2L and DHX57 highlighting region-specific variations in ciliary composition between the dorsal and ventral brain regions(PMID: 40654709).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "4.0654709E7", "complex_components": {}, "pfam_ids": ["PF18044", "PF04408", "PF00271", "PF00270", "PF21010", "PF05773", "PF07717"], "domain_descriptions": ["Zinc finger", "CCCH-type", "Helicase", "C-terminal domain-like", "DNA/RNA helicase", "ATP-dependent", "DEAH-box type", "conserved site", "RWD domain", "Helicase-associated domain", "UBA-like superfamily", "DEAD/DEAH box helicase domain", "DEAD-box helicase", "OB fold", "Helicase superfamily 1/2", "ATP-binding domain", "Ubiquitin-associated domain", "P-loop containing nucleoside triphosphate hydrolase", "Zinc finger", "CCCH-type superfamily", "E3 ligase", "CCCH-type zinc finger", "DHX57", "UBA domain", "Helicase associated domain (HA2)", "winged-helix domain"], "string_link": "https://string-db.org/network/9606/ENSG00000163214", "synonym": "DDX57", "ortholog_mouse": "Dhx57", "ortholog_xenopus": "dhx57", "ortholog_zebrafish": "dhx57", "ortholog_drosophila": "CG1582", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.2235, "sd_percent_ciliated": 1.788, "z_score": -1.0645, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.257, "sd_percent_ciliated": 0.257, "z_score": 0.257, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0791, "sd_percent_ciliated": -0.0791, "z_score": -0.0791, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DIAPH1", "ensembl_id": "ENSG00000131504", "overexpression_effects": "longer cilia", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "diaphanous related formin 1 [Source:HGNC Symbol,Acc:HGNC:2876]", "omim_id": "602121", "functional_summary": "Promotes both actin polymerization and EB1- dependent microtubule (MT) stability, both actin nucleating and microtubule-stabilizing properties of DIAPH1 are important for their cilia functions. Depletion of DIAPH1 decreased ciliogenesis, cilia length, and reduced trafficking within cilia. Conversely, targeting of DIAPH1 specifically to the basal body causes an increase in cilia length and increased trafficking within cilia. Thought to regulate cilia mainte nce in part by regulating vesicular trafficking to the base of the primary cilia (33124112). Using siRNA-mediated depletion of DIAPH1, we observed impaired ciliogenesis and reduced cilia length.", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transcription regulation, Cilia length regulation", "reference": "33124112, https://doi.org/10.1096/fj.202001178R", "complex_components": ["DIAPH1", "DVL2", "IQGAP1", "LGR4", "MAP2K1", "MAP2K2", "PTK2", "PXN", "RSPO3", "WASL"], "pfam_ids": ["PF02181", "PF06371", "PF06367", "PF06346"], "domain_descriptions": ["Formin", "FH3 domain", "Formin", "GTPase-binding domain", "Armadillo-like helical", "Diaphanous autoregulatory (DAD) domain", "Rho GTPase-binding/formin homology 3 (GBD/FH3) domain", "Formin", "FH2 domain", "Armadillo-type fold", "Formin", "FH2 domain superfamily", "Diaphanous", "GTPase-binding domain superfamily", "Formin Homology Diaphanous subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000131504", "synonym": "DFNA1, HDIA1, LFHL1, MDIA1", "ortholog_mouse": "Diaph1", "ortholog_c_elegans": "cyk-1", "ortholog_xenopus": "diaph1", "ortholog_drosophila": "dia", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.9176, "sd_percent_ciliated": 14.4673, "z_score": 0.9581, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.117, "sd_percent_ciliated": 0.117, "z_score": 0.117, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1863, "sd_percent_ciliated": 0.1863, "z_score": 0.1863, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DIAPH2", "ensembl_id": "ENSG00000147202", "overexpression_effects": "Not Reported", "lof_effects": "Affected", "percent_ciliated_cells_effects": "Reduced", "description": "diaphanous related formin 2 [Source:HGNC Symbol,Acc:HGNC:2877]", "omim_id": "300108", "functional_summary": "Mutation in DIAPH2 in humans is linked to premature ovarian failure (POF) (26175800), and other defects in ciliogenesis have been linked to POF(21940798) . DIAPH2 and DIAPH3 have role in ciliogenesis and cilia mainte nce and depletion of DIAPH2 and DIAPH3 caused impaired ciliogenesis, decreases in cilia length, and decreases in IFT20 or Rab11 recruitment to the ciliary base(33872598).", "localization": "basal body, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Cilia length regulation", "reference": "26175800 , 21940798, 33872598", "complex_components": {}, "pfam_ids": ["PF06367", "PF02181", "PF06371"], "domain_descriptions": ["Formin", "FH3 domain", "Formin", "GTPase-binding domain", "Armadillo-like helical", "Diaphanous autoregulatory (DAD) domain", "Rho GTPase-binding/formin homology 3 (GBD/FH3) domain", "Formin", "FH2 domain", "Armadillo-type fold", "Formin", "FH2 domain superfamily", "Diaphanous", "GTPase-binding domain superfamily", "Formin Homology Diaphanous subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000147202", "synonym": "DIA, DIA2, POF, POF2", "ortholog_mouse": "Diaph2", "ortholog_c_elegans": "cyk-1", "ortholog_xenopus": "diaph2", "ortholog_zebrafish": "diaph2", "ortholog_drosophila": "dia", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.4268, "sd_percent_ciliated": 0.508, "z_score": -0.9187, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.39, "sd_percent_ciliated": 1.39, "z_score": 1.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.7335, "sd_percent_ciliated": 0.7335, "z_score": 0.7335, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DIAPH3", "ensembl_id": "ENSG00000139734", "overexpression_effects": "Not Reported", "lof_effects": "Affected", "percent_ciliated_cells_effects": "Reduced", "description": "diaphanous related formin 3 [Source:HGNC Symbol,Acc:HGNC:15480]", "omim_id": "614567", "functional_summary": "DIAPH3 may coordi te vesicle trafficking to the base of cilia to regulate ciliogenesis and cilia mainte nce(33872598). DIAPH2 and DIAPH3 have role in ciliogenesis and cilia mainte nce and depletion of DIAPH2 and DIAPH3 caused impaired ciliogenesis, decreases in cilia length, and decreases in IFT20 or Rab11 recruitment to the ciliary base(33872598).", "localization": "basal body, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "3.3872598E7", "complex_components": {}, "pfam_ids": ["PF06371", "PF06367", "PF02181"], "domain_descriptions": ["Formin", "FH3 domain", "Formin", "GTPase-binding domain", "Armadillo-like helical", "Diaphanous autoregulatory (DAD) domain", "Rho GTPase-binding/formin homology 3 (GBD/FH3) domain", "Formin", "FH2 domain", "Armadillo-type fold", "Formin", "FH2 domain superfamily", "Diaphanous", "GTPase-binding domain superfamily", "Formin Homology Diaphanous subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000139734", "synonym": "AN, AUNA1, DRF3, FLJ34705, NSDAN", "ortholog_mouse": "Diaph3", "ortholog_c_elegans": "cyk-1", "ortholog_xenopus": "diaph3", "ortholog_zebrafish": "diaph3", "ortholog_drosophila": "dia", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.4282, "sd_percent_ciliated": 0.3991, "z_score": 0.2931, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.8, "sd_percent_ciliated": 1.8, "z_score": 1.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.2402, "sd_percent_ciliated": -7.2402, "z_score": -7.2402, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DIDO1", "ensembl_id": "ENSG00000101191", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "death inducer-obliterator 1 [Source:HGNC Symbol;Acc:HGNC:2680]", "omim_id": "604140", "functional_summary": "As the same organelle that sprouts the cilium in interphase organizes the mitotic spindle during cell division, cilia must be shortened and disassembled before mitosis11. The subcellular distribution and recruitment of Dido3 to spindle poles hint at a role for the protein in this process. To determine whether Dido3 has a role in the regulation of cilium size, we measured the primary cilium length in serum-starved WT and ΔNT MEF (Fig. 2). Labelling with antibodies against the proliferation marker proliferating-cell nuclear antigen confirmed cell cycle arrest after serum starvation (Supplementary Fig. 3). Although cell cycle arrest readily produced cilia in the WT and ΔNT MEFs (Fig. 2a), average cilium size was significantly reduced in the ΔNT MEF (Fig. 2b). As the independent marker ARL13B34 distributed along, but did not extend significantly beyond the Ac-tub signal (Fig. 2c,d), Ac-tub accurately determined cilium size for WT and ΔNT MEF. Subsequent quantification revealed that cilium size negatively correlated with Dido3/Dido3ΔNT protein levels at the basal body (Supplementary Fig. 4). As Dido3ΔNT is more efficiently recruited to the basal body than WT Dido3 (Fig. 1), these data suggest that Dido3 negatively regulates cilium size(24667272).", "localization": "basal body, nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.4667272E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101191", "synonym": "BYE1, C20ORF158, DATF1, DIO-1, DIO1, DJ885L7.8, FLJ11265, KIAA0333", "ortholog_mouse": "Dido1, Dio1", "ortholog_xenopus": "dido1, dio1", "ortholog_zebrafish": "dido1, dio1", "ortholog_drosophila": "pps", "screens": [] }, { "gene": "DIS3L", "ensembl_id": "ENSG00000166938", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DIS3 like exosome 3'-5' exoribonuclease [Source:HGNC Symbol,Acc:HGNC:28698]", "omim_id": "614183", "functional_summary": "DIS3L has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DIS3", "EXOSC1", "EXOSC2", "EXOSC3", "EXOSC4", "EXOSC5", "EXOSC6", "EXOSC7", "EXOSC8", "EXOSC9", "EXOSC10", "DIS3L", "MPHOSPH6"], "pfam_ids": ["PF17849", "PF17215", "PF17216", "PF00773"], "domain_descriptions": ["Ribonuclease II/R", "Nucleic acid-binding", "OB-fold", "Ribonuclease II/R", "conserved site", "Exosome complex exonuclease RRP44", "S1 domain", "Rrp44-like cold shock domain", "Dis3-like cold-shock domain 2", "RNR Ribonuclease"], "string_link": "https://string-db.org/network/9606/ENSG00000166938", "synonym": "DIS3L1, FLJ38088, KIAA1955, MGC4562", "ortholog_mouse": "Dis3l", "ortholog_xenopus": "dis3l", "ortholog_zebrafish": "dis3l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4953, "sd_percent_ciliated": -1.4953, "z_score": -1.4953, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DISC1", "ensembl_id": "ENSG00000162946", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "DISC1 scaffold protein [Source:HGNC Symbol,Acc:HGNC:2888]", "omim_id": "605210", "functional_summary": "Regulation of the formation and/or mainte nce of primary cilia, and establish subtype-specific targeting of dopamine receptors to the ciliary surface. Interacts with centriolar and ciliary components (20531939). Ciliogenesis and intraflagellar transport regulation through MIPT3 interaction. DISC1 is involved in plus-end and minus-end microtubular transport (28125008). DISC1 knockdown reduced the numbers of primary cilia.", "localization": "basal body, transition zone, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "20531939, 28125008, 22116789", "complex_components": ["DISC1", "FEZ1", "ACTG1", "PDE4B", "ZNF365", "HTT", "DRD2", "TRAK1", "RHOT1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000162946", "ortholog_mouse": "Disc1", "ortholog_zebrafish": "disc1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.7809, "sd_percent_ciliated": 12.0684, "z_score": -0.8758, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.57, "sd_percent_ciliated": 3.57, "z_score": 3.57, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.4204, "sd_percent_ciliated": -4.4204, "z_score": -4.4204, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DKKL1", "ensembl_id": "ENSG00000104901", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dickkopf like acrosomal protein 1 [Source:HGNC Symbol,Acc:HGNC:16528]", "omim_id": "605418", "functional_summary": "DKKL1 has localized in flagella.", "localization": "flagella", "functional_category": "T cell biology", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000104901", "synonym": "CT34, SGY-1", "ortholog_mouse": "Dkkl1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5959, "sd_percent_ciliated": -0.5959, "z_score": -0.5959, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DLAT", "ensembl_id": "ENSG00000150768", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dihydrolipoamide S-acetyltransferase [Source:HGNC Symbol,Acc:HGNC:2896]", "omim_id": "608770", "functional_summary": "DLAT has localized in flagella.", "localization": "flagella, Mitochondria, Lysosomes", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["DLAT", "DLD", "PDHA1", "PDHB", "PDHX"], "pfam_ids": ["PF02817", "PF00364", "PF00198"], "domain_descriptions": ["Biotin/lipoyl attachment", "2-oxoacid dehydrogenase acyltransferase", "catalytic domain", "2-oxo acid dehydrogenase", "lipoyl-binding site", "Peripheral subunit-binding domain", "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex", "Single hybrid motif", "Chloramphenicol acetyltransferase-like domain superfamily", "E3-binding domain superfamily", "Dihydrolipoamide acetyltransferase/Pyruvate dehydrogenase protein X component"], "string_link": "https://string-db.org/network/9606/ENSG00000150768", "synonym": "DLTA, E2, PDC-E2", "ortholog_mouse": "Dlat", "ortholog_c_elegans": "dlat-1", "ortholog_xenopus": "dlat", "ortholog_zebrafish": "dlat", "ortholog_drosophila": "Dlat", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 6.3042, "z_score": 1.5041, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 67.3392, "z_score": 3.5535, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.4137 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.25, "z_score": 4.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 4.25 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6406, "z_score": -5.6406, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.6406 } ] }, { "gene": "DLEC1", "ensembl_id": "ENSG00000008226", "overexpression_effects": "longer cilia", "lof_effects": "not reported", "percent_ciliated_cells_effects": "increased cilia number", "description": "DLEC1 cilia and flagella associated protein [Source:HGNC Symbol,Acc:HGNC:2899]", "omim_id": "604050", "functional_summary": "Interacts with BBS protein complex subunits, as well as 伪- and 尾-tubulin. Expression enhances primary cilia formation and cilia length in A549 lung adenocarcinoma cells. Elongating spermatids in Dlec1-/- mice show head deformation, a shortened tail, and abnormal manchette organization. These phenotypes were similar to those of various intraflagellar transport (IFT)-associated gene-deficient sperm ( 33144677). DLEC1 expression slightly but significantly increased ciliary length.", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cilia length regulation", "reference": "33144677, https://doi.org/10.1038/s41598-020-75957-y", "complex_components": {}, "pfam_ids": ["PF23316", "PF23277"], "domain_descriptions": ["Immunoglobulin-like fold", "Deleted in lung and esophageal cancer protein 1"], "string_link": "https://string-db.org/network/9606/ENSG00000008226", "synonym": "CFAP81, DLC1, FAP81", "ortholog_mouse": "Dlc1, Dlec1", "ortholog_c_elegans": "gei-1", "ortholog_xenopus": "dlc1, dlec1", "ortholog_zebrafish": "dlc1, dlec1", "ortholog_drosophila": "cv-c", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.8129, "sd_percent_ciliated": 10.9776, "z_score": -0.0238 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.205, "sd_percent_ciliated": 0.205, "z_score": 0.205 } ] }, { "gene": "DLG1", "ensembl_id": "ENSG00000075711", "overexpression_effects": "no effect", "lof_effects": "longer cilia", "percent_ciliated_cells_effects": "no effect", "description": "discs large MAGUK scaffold protein 1 [Source:HGNC Symbol,Acc:HGNC:2900]", "omim_id": "601014", "functional_summary": "DLG1 has localized in basal body. Loss of DLG1 resulted in a significant increase in cilia length.", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Cilia length regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273, doi: 10.1038/s44319-024-00170-1", "complex_components": ["CASK", "DLG1", "LIN7A", "APBA1", "ADRB1", "AKAP5", "PRKAR2A", "MPP7", "LIN7C", "CADM1", "MPP3", "PIK3R1"], "pfam_ids": ["PF00595", "PF09058", "PF00625", "PF10600", "PF00018", "PF10608"], "domain_descriptions": ["SH3 domain", "PDZ domain", "L27 domain", "Guanylate kinase-like domain", "Guanylate kinase/L-type calcium channel beta subunit", "L27-1", "Disks large 1-like", "Disks large homolog 1-4", "PDZ-associated domain", "Disks large homologue 1", "N-terminal PEST domain", "Guanylate kinase", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "SH3-like domain superfamily", "PDZ superfamily", "L27 domain superfamily", "Synaptic Scaffolding LAP/MAGUK Families"], "string_link": "https://string-db.org/network/9606/ENSG00000075711", "synonym": "DJ1061C18.1.1, DLGH1, HDLG, SAP-97, SAP97", "ortholog_mouse": "Dlg1", "ortholog_c_elegans": "dlg-1", "ortholog_xenopus": "dlg1", "ortholog_zebrafish": "dlg1a, dlg1b", "ortholog_drosophila": "dlg1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.1007, "sd_percent_ciliated": 0.123, "z_score": 0.6169 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.32, "sd_percent_ciliated": 4.32, "z_score": 4.32 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3669, "sd_percent_ciliated": -2.3669, "z_score": -2.3669 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.058, "sd_percent_ciliated": -2.058, "z_score": -2.058 } ] }, { "gene": "DLG4", "ensembl_id": "ENSG00000132535", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "discs large MAGUK scaffold protein 4 [Source:HGNC Symbol,Acc:HGNC:2903]", "omim_id": "602887", "functional_summary": "DLG4 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["APC", "DLG4", "FYN", "GRIN2A", "DLGAP1", "SHANK3", "DYNLL2", "DLG3", "PTK2B", "GRIK2", "GRIK5"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000132535", "synonym": "PSD-95, PSD95, SAP-90, SAP90", "ortholog_mouse": "Dlg4", "ortholog_c_elegans": "dlg-1", "ortholog_xenopus": "dlg4", "ortholog_zebrafish": "dlg4b", "ortholog_drosophila": "dlg1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.4062, "sd_percent_ciliated": 0.7299, "z_score": -0.3154 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.961, "sd_percent_ciliated": 0.961, "z_score": 0.961 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0101, "sd_percent_ciliated": -3.0101, "z_score": -3.0101 } ] }, { "gene": "DLG5", "ensembl_id": "ENSG00000151208", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "discs large MAGUK scaffold protein 5 [Source:HGNC Symbol,Acc:HGNC:2904]", "omim_id": "604090", "functional_summary": "Dlg5 interaction with Smo is specifically required for the activation of Gli but not for Smo-induced ciliary exit of Gpr161 and consequent suppression of Gli repressor formation. Smo activity thus bifurcates, with Dlg5 function restricted to the arm of the pathway that functions to activate Gli(PMID: 25644602).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25644602 ,25644602; 32631816", "complex_components": ["CTNNB1", "DLG5", "SORBS3", "STK3", "STK4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000151208", "synonym": "KIAA0583, P-DLG", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dlg5", "ortholog_c_elegans": "magu-4", "ortholog_xenopus": "dlg5", "ortholog_zebrafish": "dlg5a, dlg5b.1", "ortholog_drosophila": "Dlg5", "screens": {} }, { "gene": "DMBT1", "ensembl_id": "ENSG00000187908", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "deleted in malignant brain tumors 1 [Source:HGNC Symbol,Acc:HGNC:2926]", "omim_id": "601969", "functional_summary": "Treatment with human recombi nt DMBT1 decreases ciliary motility of human ciliated respiratory epithelial cells in vitro (35249163). DMBT1 localized to basal body (25613900)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "35249163 ,25613900", "complex_components": {}, "pfam_ids": ["PF00431", "PF00530", "PF00100", "PF23344"], "domain_descriptions": ["CUB domain", "SRCR domain", "Zona pellucida domain", "Zona pellucida domain", "conserved site", "Spermadhesin", "CUB domain superfamily", "SRCR-like domain superfamily", "Zona pellucida", "ZP-C domain", "ZP-C domain", "ZP-N domain", "Septate junction maturation regulator"], "string_link": "https://string-db.org/network/9606/ENSG00000187908", "synonym": "GP-340, GP340, SALSA", "ortholog_mouse": "Dmbt1", "ortholog_xenopus": "LOC101733357", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.7802, "sd_percent_ciliated": 9.5819, "z_score": 1.305 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.466, "sd_percent_ciliated": 0.466, "z_score": 0.466 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.5734, "sd_percent_ciliated": -0.5734, "z_score": -0.5734 } ] }, { "gene": "DMC1", "ensembl_id": "ENSG00000100206", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DNA meiotic recombinase 1 [Source:HGNC Symbol,Acc:HGNC:2927]", "omim_id": "602721", "functional_summary": "dmc1, which encodes an essential meiotic recombi tion protein, as the major target gene of E2f5 during spermatogenesis. E2f5 can bind to the promoter of dmc1 to promote homologous recombi tion, and overexpression of dmc1 significantly increased the fertilization rate of e2f5 mutant males ( 32196499).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Reproduction & sperm, Protein processing & maturation", "reference": "3.2196499E7", "complex_components": {}, "pfam_ids": ["PF14520", "PF08423"], "domain_descriptions": ["AAA+ ATPase domain", "DNA repair Rad51/transcription factor NusA", "alpha-helical", "Meiotic recombination protein Dmc1", "DNA recombination and repair protein Rad51-like", "C-terminal", "DNA recombination and repair protein", "RecA-like", "DNA recombination and repair protein RecA", "monomer-monomer interface", "DNA recombination and repair protein RecA-like", "ATP-binding domain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000100206", "synonym": "LIM15", "ortholog_mouse": "Dmc1", "ortholog_xenopus": "dmc1", "ortholog_zebrafish": "dmc1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.8369, "sd_percent_ciliated": 7.0275, "z_score": 0.1003, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.3, "sd_percent_ciliated": 1.3, "z_score": 1.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0466, "sd_percent_ciliated": 0.0466, "z_score": 0.0466, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DMRT2", "ensembl_id": "ENSG00000173253", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "no effect", "description": "doublesex and mab-3 related transcription factor 2 [Source:HGNC Symbol,Acc:HGNC:2935]", "omim_id": "604935", "functional_summary": "Fish-specific duplicated dmrt2b contributes to a divergent function in somitogenesis through Hedgehog pathway and maintains the common function for left-right asymmetry establishment (19789708). DMRT2 localized to basal body (25613900). In dmrt2 morphants, cilia were substantially shortened.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "19789708 ,25613900, 35813209", "complex_components": {}, "pfam_ids": "PF00751", "domain_descriptions": ["DM DNA-binding domain", "DMRT family", "DM DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000173253", "ortholog_mouse": "Dmrt2", "ortholog_xenopus": "dmrt2", "ortholog_zebrafish": "dmrt2a, dmrt2b", "ortholog_drosophila": "dmrt11E", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.8408, "sd_percent_ciliated": 3.5249, "z_score": 1.5546 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.22, "sd_percent_ciliated": 1.22, "z_score": 1.22 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.7745, "sd_percent_ciliated": -4.7745, "z_score": -4.7745 } ] }, { "gene": "DNAAF1", "ensembl_id": "ENSG00000154099", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 1 [Source:HGNC Symbol,Acc:HGNC:30539]", "omim_id": "613190", "functional_summary": "Dynein heavy chain assembly factor. Interacts with the intraflagellar transport protein IFT88, mediating the delivery of dynein arm components directly to the intraflagellar transport complexes (29228333). Required for the stability of the ciliary architecture, cytoplasmic preassembly of dynein-arm complexes, including outer and inner dynein arms (27543293, 19944405). Important or cilia beat generation. Loss of LRRC50 affects the assembly of proximally and distally located ODA complexes. Candidate for human cystic kidney disease (19944400)", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "29228333, 27543293, 19944400, 19944405 ,19944400", "complex_components": {}, "pfam_ids": "PF14580", "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "Ciliary and flagellar integrity-associated protein"], "string_link": "https://string-db.org/network/9606/ENSG00000154099", "synonym": "CILD13, DAU1, FLJ25330, LRRC50, ODA7, SWT", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf1", "ortholog_xenopus": "dnaaf1", "ortholog_zebrafish": "dnaaf1", "ortholog_drosophila": "dtr", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.247, "sd_percent_ciliated": 0.247, "z_score": 0.247, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5679, "sd_percent_ciliated": -2.5679, "z_score": -2.5679, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAAF10", "ensembl_id": "ENSG00000243667", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 10 [Source:HGNC Symbol,Acc:HGNC:25176]", "omim_id": "610729", "functional_summary": "Highly conserved WD-repeat protein which acts as part of a chaperone complex involved in pre-assembly of axonemal dynein in the cytoplasm. Required for motile ciliogenesis in pla rian Schmidtea mediterranea, knockdowns have partial loss of dynein arms (26912790). Works with the D AF Spag1 at a distinct stage in dynein preassembly to regulate cytoplasmic pre- assembly of ciliary dynein in Drosophila (29743191). Functions with the HSP90 co-chaperone R2TP-like complex and other D AFs in axonemal dynein preassembly in the cytoplasm of Chlamydomo s (30428028). Stablises axonemal dynein heavy chains in cytoplasm in Chlamydomo s (31116681)", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "12833159, 16434480, 17584769, 19959638, 20502675, 22323458", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000243667", "synonym": "FLJ31741, MONAD, WDR92", "ortholog_mouse": "Dnaaf10", "ortholog_xenopus": "dnaaf10", "ortholog_zebrafish": "dnaaf10", "ortholog_drosophila": "Wdr92", "screens": {} }, { "gene": "DNAAF11", "ensembl_id": "ENSG00000129295", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 11 [Source:HGNC Symbol,Acc:HGNC:16725]", "omim_id": "614930", "functional_summary": "Plays a role in cytoplasmic preassembly of dynein arms, essential for proper axonemal assembly (23122589). Involved in the transport of the preassembled outer dynein arm complex to the axoneme and in transcriptio l regulation of some dynein proteins (27353389 23527195). Mutations lead to primary ciliary dyskinesia with laterality defects (23527195)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "30398148, 29125462,614935 ,23122589", "complex_components": ["CFAP298", "DNAAF11", "DNAAF4", "HSPA8", "IQUB", "RUVBL2", "ZMYND10"], "pfam_ids": ["PF14580", "PF23602"], "domain_descriptions": ["Leucine-rich repeat", "U2A'/phosphoprotein 32 family A", "C-terminal", "CS domain", "Leucine-rich repeat domain superfamily", "Dynein axonemal assembly factor 11-like", "CS domain", "HSP20-like chaperone"], "string_link": "https://string-db.org/network/9606/ENSG00000129295", "synonym": "CILD19, LRRC6, LRTP, TILB, TSLRP", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf11", "ortholog_xenopus": "dnaaf11", "ortholog_zebrafish": "dnaaf11", "ortholog_drosophila": "tilB", "screens": {} }, { "gene": "DNAAF19", "ensembl_id": "ENSG00000167131", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 19 [Source:HGNC Symbol,Acc:HGNC:32700]", "omim_id": "614677", "functional_summary": "Participates in microtubule stabilization that facilitates dynein arm attachment and ciliary motility (28790179). Contributes to axonemal stability. A potential role, is to modify the doublet microtubule to provide a high affinity binding site for the docking complex and needed for dynein attachment (25572396) Binds and stabilises them against cold depolymerization. It is also an outer dynein arm assembly factor (31858719, 22581229)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "28790179, 25572396, 31858719, 22581229, 22581229,614679 ,22581229", "complex_components": {}, "pfam_ids": ["PF15867", "PF13877"], "domain_descriptions": ["Dynein attachment factor", "N-terminal", "Coiled-coil domain-containing protein 103", "RNA-polymerase II-associated protein 3-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167131", "synonym": "CCDC103, CILD17, FLJ13094, FLJ34211, PR46B", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ccdc103", "ortholog_xenopus": "dnaaf19", "ortholog_zebrafish": "dnaaf19", "ortholog_drosophila": "CG13202", "screens": {} }, { "gene": "DNAAF2", "ensembl_id": "ENSG00000165506", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 2 [Source:HGNC Symbol,Acc:HGNC:20188]", "omim_id": "612517", "functional_summary": "D AF2 localized to basal body (25613900).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Cell migration & adhesion", "reference": "25613900.1905262 ,19052621; 21953912", "complex_components": ["DNAAF2", "DNAAF5", "SPAG1"], "pfam_ids": ["PF18201", "PF08190"], "domain_descriptions": ["PIH1", "N-terminal", "Kintoun", "PIH1D1/2/3", "CS-like domain", "PIH1 family", "Kintoun subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000165506", "synonym": "C14ORF104, CILD10, FLJ10563, KTU, PF13", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf2", "ortholog_xenopus": "dnaaf2", "ortholog_zebrafish": "dnaaf2", "ortholog_drosophila": "Nop17l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.177, "sd_percent_ciliated": 0.177, "z_score": 0.177, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3519, "sd_percent_ciliated": -5.3519, "z_score": -5.3519, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAAF3", "ensembl_id": "ENSG00000167646", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 3 [Source:HGNC Symbol,Acc:HGNC:30492]", "omim_id": "614566", "functional_summary": "Needed for assembly of multiple axonemal inner and outer dynein arms into complexes beefore being transported into cilia, critical for nodal cilia motility. Loss prevents correct assembly of inner and outer dynein arms, abolishing motility of respiratory cilia and giving rise to classical primary ciliary dyskinesia with defective left- right organ asymmetry and male infertility (", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "22387996, 29323929 ,22387996", "complex_components": {}, "pfam_ids": ["PF14740", "PF14737"], "domain_descriptions": ["Domain of Not Reported function DUF4470", "Dynein assembly factor 3", "C-terminal domain", "Dynein assembly factor 3", "axonemal"], "string_link": "https://string-db.org/network/9606/ENSG00000167646", "synonym": "C19ORF51, CILD2, FLJ36139, FLJ40069, PCD, PF22", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf3", "ortholog_xenopus": "dnaaf3", "ortholog_zebrafish": "dnaaf3", "ortholog_drosophila": "Dnaaf3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.04, "sd_percent_ciliated": 2.04, "z_score": 2.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0706, "sd_percent_ciliated": 0.0706, "z_score": 0.0706, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAAF4", "ensembl_id": "ENSG00000256061", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 4 [Source:HGNC Symbol,Acc:HGNC:21493]", "omim_id": "608706", "functional_summary": "Cytoplasmic axonemal dynein assembly factor (DYX1C1) that probably acts together with D AF2 at an early step of cytoplasmic ODA and IDA assembly (23872636). Involved in ciliary and basal body biogenesis (23650548)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "25232951.2387263 ,23872636", "complex_components": ["CFAP298", "DNAAF11", "DNAAF4", "HSPA8", "IQUB", "RUVBL2", "ZMYND10", "ESR1", "ESR2"], "pfam_ids": "PF04969", "domain_descriptions": ["CS domain", "HSP20-like chaperone", "Tetratricopeptide-like helical domain superfamily", "Dynein axonemal assembly factor 4", "CS domain", "Axonemal Dynein Assembly Factor 4", "Tetratricopeptide repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000256061", "synonym": "CILD25, DYX1C1, EKN1, FLJ37882, PF23", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf4", "ortholog_xenopus": "dnaaf4", "ortholog_zebrafish": "dnaaf4", "ortholog_drosophila": "Dnaaf4", "screens": {} }, { "gene": "DNAAF5", "ensembl_id": "ENSG00000164818", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 5 [Source:HGNC Symbol,Acc:HGNC:26013]", "omim_id": "614864", "functional_summary": "Preassembly and/or stability of both outer and inner axonemal dynein arms, required for ciliary motility. Interacts with D I2 in the initial step of outer dynein arms assembly ( 25232951)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "28041644, 28176794, 24421334, 32170493,23040496 ,23040496; 25232951", "complex_components": ["DNAAF2", "DNAAF5", "SPAG1"], "pfam_ids": ["PF24573", "PF02985"], "domain_descriptions": ["HEAT repeat", "Armadillo-like helical", "Armadillo-type fold", "HEAT", "type 2", "TOG domain", "Dynein axonemal assembly factor 5", "Dynein axonemal assembly factor 5", "HEAT-repeat domain"], "string_link": "https://string-db.org/network/9606/ENSG00000164818", "synonym": "CILD18, FLJ20397, FLJ25564, FLJ31671, FLJ39381, HEATR2", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf5", "ortholog_xenopus": "dnaaf5", "ortholog_zebrafish": "dnaaf5", "ortholog_drosophila": "Dnaaf5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.39, "sd_percent_ciliated": 5.39, "z_score": 5.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DNAAF6", "ensembl_id": "ENSG00000080572", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal assembly factor 6 [Source:HGNC Symbol,Acc:HGNC:28570]", "omim_id": "300933", "functional_summary": "Also known as PIH1D3. Involved in the cytoplasmatic preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations cause X-linked primary ciliary dyskinesia with ciliary and sperm immotility in humans (28041644, 28176794). Interacts with D ic2 (ODA IC2), Hsp70 and Hsp90, and may be required to maintain the stability of the IC1鈥揑C2 complex (24421334).Mutations lead to absence of outer and inner dynein arms in sperm flagella, male infertility and primary ciliary dyskinesia (32170493)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "11371505.2804164 ,28041644; 24421334", "complex_components": {}, "pfam_ids": "PF18201", "domain_descriptions": ["Dynein axonemal assembly factor 6", "PIH1D1/2/3", "CS-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000080572", "synonym": "CXORF41, MGC35261, NYSAR97, PIH1D3, TWISTER", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnaaf6, Dnaaf6rt", "ortholog_xenopus": "dnaaf6", "ortholog_zebrafish": "dnaaf6", "ortholog_drosophila": "Dnaaf6", "screens": {} }, { "gene": "DNAH1", "ensembl_id": "ENSG00000114841", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 1 [Source:HGNC Symbol,Acc:HGNC:2940]", "omim_id": "603332", "functional_summary": "Formation of the inner dynein arms, its absence is deleterious for the organization and biogenesis of the axoneme. Knockout causes asthenozoospermia and and respiratory disease due to decrease in the beat frequency of tracheal cilia (11371505)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "11175280, 15937072, 29843777,25927852 ,25927852", "complex_components": {}, "pfam_ids": ["PF17857", "PF12781", "PF12775", "PF12777", "PF12780", "PF12774", "PF18199", "PF03028", "PF17852", "PF18198", "PF08393"], "domain_descriptions": ["Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000114841", "synonym": "DNAHC1, HDHC7, HL-11, HL11, XLHSRF-1", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah1", "ortholog_xenopus": "dnah1", "ortholog_zebrafish": "dnah1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2787, "z_score": 0.5594, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.8366, "z_score": 1.1906, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.7739 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.848, "z_score": 0.848, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.848 } ] }, { "gene": "DNAH10", "ensembl_id": "ENSG00000281935", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 10 [Source:HGNC Symbol,Acc:HGNC:2941]", "omim_id": "605884", "functional_summary": "Component of outer dynein arm (PMID:15937072, 11175280, 29843777). Heterotaxy candidate gene, involved in left-right patterning regulaton by affecting the notochord. Participates in protozoan flagellar motility (29843777)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Cell migration & adhesion", "reference": "26909801, 29467202, 12142464", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281935", "synonym": "FLJ43808", "ortholog_mouse": "Dnah10", "ortholog_xenopus": "dnah10", "ortholog_zebrafish": "dnah10", "ortholog_drosophila": "Dhc98D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.1133, "sd_percent_ciliated": 2.1149, "z_score": -0.8355 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.546, "sd_percent_ciliated": 0.546, "z_score": 0.546 } ] }, { "gene": "DNAH11", "ensembl_id": "ENSG00000105877", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 11 [Source:HGNC Symbol,Acc:HGNC:2942]", "omim_id": "603339", "functional_summary": "Encodes a ciliary outer dynein arm protein. Required for bending of the proximal ciliary region during the effective and recovery strokes of the ciliary beat cycle. Mutations are a common cause of primary ciliary dyskinesia and situs inversus (26909801, 29467202, 12142464)", "localization": "flagella, cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion, Cardiac & muscle development", "reference": "31178125, 31658987,12142464 ,12142464", "complex_components": {}, "pfam_ids": ["PF12781", "PF17852", "PF12775", "PF12780", "PF18198", "PF12777", "PF18199", "PF12774", "PF17857", "PF08393", "PF03028", "PF08385"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000105877", "synonym": "CILD7, DNAHBL, DNAHC11, DNHBL, DPL11", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah11", "ortholog_xenopus": "dnah11", "ortholog_zebrafish": "dnah9l, si:dkey-233k19.3", "ortholog_drosophila": "CG3339", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.833, "sd_percent_ciliated": 1.5822, "z_score": 1.0691 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.151, "sd_percent_ciliated": 0.151, "z_score": 0.151 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.9233, "sd_percent_ciliated": 2.9233, "z_score": 2.9233 } ] }, { "gene": "DNAH12", "ensembl_id": "ENSG00000174844", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 12 [Source:HGNC Symbol,Acc:HGNC:2943]", "omim_id": "603340", "functional_summary": "D H12 plays a crucial role in the proper organization of axoneme in flagella, but not cilia, by recruiting D H1 and D LI1 in both humans and mice (40146200).", "localization": "flagella, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "40146200 ,11175280", "complex_components": {}, "pfam_ids": ["PF03028", "PF12777", "PF12775", "PF08393", "PF12774", "PF18198", "PF17857", "PF12780", "PF12781", "PF18199", "PF17852"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000174844", "synonym": "DHC3, DLP12, DNAH12L, DNAH7L, DNAHC3, DNHD2, FLJ40427, FLJ44290, HDHC3, HL-19", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah12", "ortholog_xenopus": "dnah12", "ortholog_zebrafish": "dnah12", "ortholog_drosophila": "Dhc62B", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.331, "sd_percent_ciliated": 0.331, "z_score": 0.331, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DNAH14", "ensembl_id": "ENSG00000185842", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 14 [Source:HGNC Symbol,Acc:HGNC:2945]", "omim_id": "603341", "functional_summary": "D H14 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Endoplasmic", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273,33577779 ,33577779; 29323929", "complex_components": {}, "pfam_ids": ["PF12780", "PF12781", "PF12777", "PF12775", "PF18199", "PF17852", "PF12774", "PF17857", "PF08393", "PF18198", "PF03028"], "domain_descriptions": ["Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region", "AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3"], "string_link": "https://string-db.org/network/9606/ENSG00000185842", "synonym": "C1ORF67, DKFZP781B1548, DNAHC14, HL-18, HL18, MGC27277", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah14", "ortholog_xenopus": "dnah14", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.16, "sd_percent_ciliated": 2.16, "z_score": 2.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.0887, "sd_percent_ciliated": 2.0887, "z_score": 2.0887, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAH17", "ensembl_id": "ENSG00000187775", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 17 [Source:HGNC Symbol,Acc:HGNC:2946]", "omim_id": "610063", "functional_summary": "Sperm-specific axonemal outer dynein arm heavy chain. Mutations cause isolated male infertility due to asthenozoospermia (31178125) and flagella instability (31658987)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "30060180, 30811583 ,31178125", "complex_components": {}, "pfam_ids": ["PF18198", "PF08393", "PF03028", "PF08385", "PF12781", "PF12775", "PF12774", "PF17852", "PF12777", "PF18199", "PF12780", "PF17857"], "domain_descriptions": ["Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000187775", "synonym": "DNAHL1, DNEL2, FLJ40457", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah17", "ortholog_drosophila": "Dhc93AB", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.03, "sd_percent_ciliated": 1.03, "z_score": 1.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DNAH2", "ensembl_id": "ENSG00000183914", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 2 [Source:HGNC Symbol,Acc:HGNC:2948]", "omim_id": "603333", "functional_summary": "Component of axonemal inner dynein arm-f, essential for ciliary beat (30060180). D H2 mutation can cause severe sperm flagella defects that damage sperm motility (30811583).", "localization": "cilia , flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "11062149, 30471717, 1575003, 18950741 ,9256245", "complex_components": {}, "pfam_ids": ["PF12777", "PF25007", "PF12774", "PF17857", "PF12775", "PF08393", "PF18199", "PF18198", "PF03028", "PF12780", "PF08385", "PF17852", "PF12781"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region", "Dynein axonemal heavy chain 2/5/8", "coiled-coil domain"], "string_link": "https://string-db.org/network/9606/ENSG00000183914", "synonym": "DNHD3, FLJ46675, KIAA1503", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah2", "ortholog_xenopus": "dnah2", "ortholog_zebrafish": "dnah2", "ortholog_drosophila": "kl-2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.39, "sd_percent_ciliated": 4.39, "z_score": 4.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5345, "sd_percent_ciliated": 0.5345, "z_score": 0.5345, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAH3", "ensembl_id": "ENSG00000158486", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 3 [Source:HGNC Symbol,Acc:HGNC:2949]", "omim_id": "603334", "functional_summary": "D h3 knockout (KO) male mice were also infertile, especially showing the severe reduction in sperm movement with the abnormal inner dynein arms and mitochondrion structure (39503742).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "39503742 ,9256245", "complex_components": {}, "pfam_ids": ["PF18199", "PF03028", "PF12775", "PF12780", "PF08393", "PF12781", "PF18198", "PF12774", "PF12777", "PF17857", "PF17852"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000158486", "synonym": "DKFZP434N074, DLP3, DNAHC3B, HSADHC3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah3", "ortholog_xenopus": "dnah3", "ortholog_zebrafish": "dnah3", "ortholog_drosophila": "Dnah3", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.6924, "sd_percent_ciliated": 5.9414, "z_score": 1.5366 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.655, "sd_percent_ciliated": 0.655, "z_score": 0.655 } ] }, { "gene": "DNAH5", "ensembl_id": "ENSG00000039139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 5 [Source:HGNC Symbol,Acc:HGNC:2950]", "omim_id": "603335", "functional_summary": "Component of ciliary outer dynein arms, mutations can cause primary ciliary dyskinesia (30471717, 11062149). Cilia with complete axonemal D H5 deficiency are immotile (15750039). Essential for correct assembly of D I2 in type 1 and 2 ODA complexes (18950741)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "26918822, 1178882 ,11788826", "complex_components": ["DNAH5", "DNAH9", "DNAI1", "DNAI2"], "pfam_ids": ["PF25007", "PF12774", "PF12780", "PF12781", "PF12775", "PF18199", "PF08385", "PF08393", "PF17857", "PF18198", "PF17852", "PF12777", "PF03028"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region", "Dynein axonemal heavy chain 2/5/8", "coiled-coil domain"], "string_link": "https://string-db.org/network/9606/ENSG00000039139", "synonym": "CILD3, DNAHC5, HL1, KTGNR, PCD", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah5", "ortholog_xenopus": "dnah5", "ortholog_zebrafish": "dnah5", "ortholog_drosophila": "Dhc1, kl-3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.5593, "sd_percent_ciliated": 3.6991, "z_score": 1.0359 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.37, "sd_percent_ciliated": 7.37, "z_score": 7.37 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8567, "sd_percent_ciliated": -2.8567, "z_score": -2.8567 } ] }, { "gene": "DNAH6", "ensembl_id": "ENSG00000115423", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "dynein axonemal heavy chain 6 [Source:HGNC Symbol,Acc:HGNC:2951]", "omim_id": "603336", "functional_summary": "Putative inner dynein arm component. Required for ciliogenesis and motile cilia function mediating airway clearance and left/right patterning. Mutations can cause heterotaxy and ciliary dysfunction similar to primary ciliary dyskinesia by disruption of cilia ultrastructure (26918822). Rather a marked reduction in KV cilia length and decrease in the number of motile KV cilia.", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Cell migration & adhesion, Cilia length regulation", "reference": "11877439, 26918822 ,39056782; 8812413", "complex_components": {}, "pfam_ids": ["PF12777", "PF17852", "PF12780", "PF08393", "PF12774", "PF17857", "PF12781", "PF03028", "PF18198", "PF12775", "PF18199"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000115423", "synonym": "DNAHC6, DNHL1, FLJ37357, HL-2", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah6", "ortholog_xenopus": "dnah6", "ortholog_drosophila": "Dhc16F", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.8086, "sd_percent_ciliated": 12.1679, "z_score": -1.1147, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.146, "sd_percent_ciliated": 0.146, "z_score": 0.146, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DNAH7", "ensembl_id": "ENSG00000118997", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 7 [Source:HGNC Symbol,Acc:HGNC:18661]", "omim_id": "610061", "functional_summary": "Axonemal inner arm component of human cilia. Absent in primary ciliary dyskinesia (11877439)", "localization": "cilia,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Cell migration & adhesion", "reference": "30471717, 30471718,11877439 ,11877439", "complex_components": {}, "pfam_ids": ["PF18199", "PF18198", "PF12775", "PF12781", "PF17852", "PF12774", "PF12780", "PF17857", "PF03028", "PF08393", "PF12777"], "domain_descriptions": ["Dynein heavy chain", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "C-terminal domain", "barrel region", "EF-hand domain", "AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "EF-Hand 1", "calcium-binding site", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain"], "string_link": "https://string-db.org/network/9606/ENSG00000118997", "synonym": "KIAA0944", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah7a, Dnah7b, Dnah7c", "ortholog_xenopus": "dnah7", "ortholog_zebrafish": "dnah7", "ortholog_drosophila": "Dhc36C", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.1216, "sd_percent_ciliated": 5.566, "z_score": 0.2559, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DNAH8", "ensembl_id": "ENSG00000124721", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 8 [Source:HGNC Symbol,Acc:HGNC:2952]", "omim_id": "603337", "functional_summary": "D H17 and D H8, but not D H5, D H9, or D H11, colocalize with α-tubulin along the sperm axoneme, whereas the reverse picture is observed in respiratory cilia, thus explaining the phenotype restricted to sperm cells (31178125).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "31178125 ,31178125", "complex_components": {}, "pfam_ids": ["PF17852", "PF03028", "PF08385", "PF18199", "PF25007", "PF12781", "PF12780", "PF12775", "PF12777", "PF12774", "PF17857", "PF18198", "PF08393"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region", "Dynein axonemal heavy chain 2/5/8", "coiled-coil domain"], "string_link": "https://string-db.org/network/9606/ENSG00000124721", "synonym": "HDHC9", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah8", "ortholog_drosophila": "Dhc1, kl-3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.9202, "sd_percent_ciliated": 6.7068, "z_score": -0.2531 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.91, "sd_percent_ciliated": 1.91, "z_score": 1.91 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.1081, "sd_percent_ciliated": -4.1081, "z_score": -4.1081 } ] }, { "gene": "DNAH9", "ensembl_id": "ENSG00000007174", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal heavy chain 9 [Source:HGNC Symbol,Acc:HGNC:2953]", "omim_id": "603330", "functional_summary": "Component of ciliary outer dynein arms and is required in cilia motility and ODA stability. In individuals with pathogenic variants in D H11, D H9 can reside in the place of D H11. Mutations confer a loss of ODAs in the distal portion of the ciliary axoneme and affects the ciliary beat pattern (30471717). Essential in distal axonemal assembly and docking of ODAs type 2, which occurs via direct interaction of D H9 with the docking complex protein CCDC114 (30471718)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Cell migration & adhesion", "reference": "11231901, 29113992,30471718 ,30471718", "complex_components": ["DNAH5", "DNAH9", "DNAI1", "DNAI2"], "pfam_ids": ["PF08385", "PF17852", "PF18199", "PF12780", "PF12781", "PF18198", "PF03028", "PF08393", "PF12777", "PF12775", "PF17857", "PF12774"], "domain_descriptions": ["Dynein heavy chain", "tail", "Dynein heavy chain", "AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain 3", "AAA+ lid domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000007174", "synonym": "DNAH17L, DNAHC9, DNAL1, DYH9, HL-20, HL20, KIAA0357", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnah9, Dnal1", "ortholog_xenopus": "dnah9, dnal1", "ortholog_zebrafish": "dnah9, dnal1", "ortholog_drosophila": "CG10839, CG3339, Dhc93AB, kl-5, ODA-Dnal1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.0175, "sd_percent_ciliated": 2.746, "z_score": -0.2413, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.09, "sd_percent_ciliated": 2.09, "z_score": 2.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.4983, "sd_percent_ciliated": 1.4983, "z_score": 1.4983, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAI1", "ensembl_id": "ENSG00000122735", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal intermediate chain 1 [Source:HGNC Symbol,Acc:HGNC:2954]", "omim_id": "604366", "functional_summary": "Axonemal outer dynein intermediate-chain protein. Mutations result in primary ciliary dyskinesia with situs solitus or situs inversus (11231901). D I and D I2 form a complex essential for the stability of both proteins during early stages of outer dynein arms assembly (29113992)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29113992, 18950741, 20709053, 20707998,11231901 ,11231901", "complex_components": ["DNAH5", "DNAH9", "DNAI1", "DNAI2"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Dynein Intermediate Chain"], "string_link": "https://string-db.org/network/9606/ENSG00000122735", "synonym": "CILD1, DIC1, ODA6, PCD", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnai1", "ortholog_xenopus": "dnai1", "ortholog_zebrafish": "dnai1.1, dnai1.2", "ortholog_drosophila": "CG9313", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.1746, "z_score": 0.8392, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 59.5178, "z_score": 2.6059, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.0897 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.51, "z_score": 1.51, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.51 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9048, "z_score": -0.9048, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.9048 } ] }, { "gene": "DNAI2", "ensembl_id": "ENSG00000171595", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal intermediate chain 2 [Source:HGNC Symbol,Acc:HGNC:18744]", "omim_id": "605483", "functional_summary": "Outher dynein arm intermediate chain protein. D I and D I2 form a complex essential for the stability of both proteins during early stages of outer dynein arms assembly (29113992). Essential for axonemal assembly of the ODA heavy chains D H5 and D H9 (18950741). Required for ODA formation in Kupffer's Vesicle cilia and controls the stablishment of left-right doby axis and kidney formation through regulation of ciliary motility.(20709053, 20707998)", "localization": "cilia , flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "27486783.1895074 ,18950741", "complex_components": ["DNAH5", "DNAH9", "DNAI1", "DNAI2"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Dynein Intermediate Chain"], "string_link": "https://string-db.org/network/9606/ENSG00000171595", "synonym": "CILD9, DIC2, ODA6", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnai2", "ortholog_xenopus": "dnai2", "ortholog_zebrafish": "dnai2a, dnai2b", "ortholog_drosophila": "CG10859, CG1571, Dnai2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.3275, "sd_percent_ciliated": 6.3672, "z_score": -1.0519 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.036, "sd_percent_ciliated": -1.036, "z_score": -1.036 } ] }, { "gene": "DNAI3", "ensembl_id": "ENSG00000162643", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal intermediate chain 3 [Source:HGNC Symbol,Acc:HGNC:30711]", "omim_id": "617968", "functional_summary": "Vertebrate orthologue of Chlamydomo s intermediate chain inner dynein arm protein IC140 which localises to Chlamydomo s flaggelar axoneme (9843573). In Chlamydomo s interacts with IC138 (WDR78 in vertebrates) and directly interacts with tubulin (24080090). Associates with inner dynein arm subunit Wdr78 in mice (30060180). Rare intragenic heterozygous in-frame WDR63 deletion identified as likely cause of occipital encephalocele in one human fetus (29285825). Similar mutations in zebrafish caused similar malformations (29285825). Also interacts with Arp2/3 to regulate actin polymerisation and inhibit cell migration, invasion, and metastasis (32128961)", "localization": "flagella, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "30122540, 30310178, 30686508 ,30060180", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000162643", "synonym": "DIC3, FLJ30067, NYD-SP29, WDR63", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnai3", "ortholog_xenopus": "dnai3", "ortholog_zebrafish": "dnai3", "ortholog_drosophila": "mmm", "screens": {} }, { "gene": "DNAI4", "ensembl_id": "ENSG00000152763", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal intermediate chain 4 [Source:HGNC Symbol,Acc:HGNC:26252]", "omim_id": "619156", "functional_summary": "Identified as a putative cilia gene by proteomics and comparative genomics (15937072), characterised as a cilia protein via siR knockdown of Wdr78 in 3 different mouse cell lines and high content imaging which showed perturbed receptor transport to the ciliary membrane and HH sig lling (21289087). Vertebrate orthologue of Chlamydomo s inner dynein arm protein IC138. Associates with inner dynein arm subunits such as D h2 (a heavy chain) and Wdr63 (Chlamydomo s IC140 orthologue) in mice. Localises specifically to motile cilia in mice and knockdown leads to immotility of ependymal cilia with failure of heavy chains and intermediate chains of inner dynein arms to localise to motile cilia 30060180 . Zebrafish Wdr78 morphants have ciliopathy- type phenotypes (30060180).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "2.8781053E7", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Dynein Intermediate Chain"], "string_link": "https://string-db.org/network/9606/ENSG00000152763", "synonym": "DIC4, FLJ23129, WDR78", "ortholog_mouse": "Dnai4", "ortholog_xenopus": "dnai4", "ortholog_zebrafish": "dnai4", "ortholog_drosophila": "CG13930, Dic61B", "screens": {} }, { "gene": "DNAJA4", "ensembl_id": "ENSG00000140403", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DnaJ heat shock protein family (Hsp40) member A4 [Source:HGNC Symbol,Acc:HGNC:14885]", "functional_summary": "D JA4 has localized in primary cilia ,basal body.", "localization": "cilia,basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF01556", "PF00226", "PF00684"], "domain_descriptions": ["Heat shock protein DnaJ", "cysteine-rich domain", "DnaJ domain", "Chaperone DnaJ", "C-terminal", "HSP40/DnaJ peptide-binding", "Chaperone DnaJ", "DnaJ domain", "conserved site", "Heat shock protein DnaJ", "cysteine-rich domain superfamily", "Chaperone J-domain superfamily", "DnaJ homolog subfamily A member 1/2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000140403", "synonym": "PRO1472", "ortholog_mouse": "Dnaja4", "ortholog_c_elegans": "dnj-12", "ortholog_xenopus": "dnaja4", "ortholog_zebrafish": "dnaja", "ortholog_drosophila": "Droj2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.3088, "sd_percent_ciliated": 5.3755, "z_score": -0.206, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.35, "sd_percent_ciliated": 3.35, "z_score": 3.35, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.2637, "sd_percent_ciliated": -5.2637, "z_score": -5.2637, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAJB11", "ensembl_id": "ENSG00000090520", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DnaJ heat shock protein family (Hsp40) member B11 [Source:HGNC Symbol,Acc:HGNC:14889]", "omim_id": "611341", "functional_summary": "Mutations in the DNAJB11 gene cause Renal-hepatic-pancreatic Dysplasia and Autosomal Dominant Polycystic Kidney Disease (PMID: 33129895, 29706351).", "localization": "Ciliary associated gene, Endoplasmic, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Protein processing & maturation", "reference": "33129895, 29706351 ,29706351; 33129895; 25613900", "complex_components": ["DNAJB11", "SDF2", "SDF2L1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000090520", "synonym": "EDJ, ERDJ3, HEDJ", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease; Renal-hepatic-pancreatic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnajb11", "ortholog_c_elegans": "dnj-20", "ortholog_xenopus": "dnajb11", "ortholog_zebrafish": "dnajb11", "ortholog_drosophila": "shv", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.6987, "sd_percent_ciliated": 1.1332, "z_score": -0.1588, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.8, "sd_percent_ciliated": 7.8, "z_score": 7.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5864, "sd_percent_ciliated": -1.5864, "z_score": -1.5864, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAJB13", "ensembl_id": "ENSG00000187726", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DnaJ heat shock protein family (Hsp40) member B13 [Source:HGNC Symbol,Acc:HGNC:30718]", "omim_id": "610263", "functional_summary": "Role in the proper formation and function of ciliary and flagellar axonemes in humans, preserving the integrity of the central complex of motile cilia and flagella (27486783)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation", "reference": "15845866, 21496787,27486783 ,27486783", "complex_components": {}, "pfam_ids": ["PF01556", "PF00226"], "domain_descriptions": ["DnaJ domain", "Chaperone DnaJ", "C-terminal", "HSP40/DnaJ peptide-binding", "DnaJ domain", "conserved site", "Chaperone J-domain superfamily", "DnaJ homolog subfamily B"], "string_link": "https://string-db.org/network/9606/ENSG00000187726", "synonym": "RSPH16A, TSARG6", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnajb13", "ortholog_xenopus": "dnajb13", "ortholog_zebrafish": "dnajb13", "ortholog_drosophila": "CG12020", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.937, "sd_percent_ciliated": 0.937, "z_score": 0.937, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.3356, "sd_percent_ciliated": 2.3356, "z_score": 2.3356, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAJC5", "ensembl_id": "ENSG00000101152", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DnaJ heat shock protein family (Hsp40) member C5 [Source:HGNC Symbol,Acc:HGNC:16235]", "omim_id": "611203", "functional_summary": "D JC5 has localized in flagella.", "localization": "flagella", "functional_category": "Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00226", "domain_descriptions": ["DnaJ domain", "DnaJ domain", "conserved site", "Chaperone J-domain superfamily", "DnaJ homolog subfamily C member 5"], "string_link": "https://string-db.org/network/9606/ENSG00000101152", "synonym": "CLN4, DNAJC5A, FLJ00118, FLJ13070", "ortholog_mouse": "Dnajc5", "ortholog_c_elegans": "dnj-14", "ortholog_xenopus": "dnajc5", "ortholog_zebrafish": "dnajc5aa, dnajc5ab", "ortholog_drosophila": "Csp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.7281, "sd_percent_ciliated": 0.1459, "z_score": 0.3294 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.908, "sd_percent_ciliated": 0.908, "z_score": 0.908 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 3.4255, "sd_percent_ciliated": 3.4255, "z_score": 3.4255 } ] }, { "gene": "DNAL1", "ensembl_id": "ENSG00000119661", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal light chain 1 [Source:HGNC Symbol,Acc:HGNC:23247]", "omim_id": "610062", "functional_summary": "Encodes an outer dynein arm light chain protein. Candidate gene for primary ciliary dyskisenia. Regulatory function for D H5 activity in outer dynein arms of sperm flagella, respiratory cilia, and ependymal cilia (15845866). Necessary for the function of the cilia that produce the nodal flow essential for the determi tion of left-right asymmetry (21496787)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "9284741.21496787 ,21496787; 15845866", "complex_components": {}, "pfam_ids": ["PF12799", "PF24048"], "domain_descriptions": ["Leucine-rich repeat", "Leucine rich repeat 4", "Leucine-rich repeat domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000119661", "synonym": "1700010H15RIK, C14ORF168, CILD16, MGC12435", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnal1", "ortholog_xenopus": "dnal1", "ortholog_zebrafish": "dnal1", "ortholog_drosophila": "CG10839, ODA-Dnal1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.52, "sd_percent_ciliated": 1.52, "z_score": 1.52, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8298, "sd_percent_ciliated": -1.8298, "z_score": -1.8298, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNAL4", "ensembl_id": "ENSG00000100246", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal light chain 4 [Source:HGNC Symbol,Acc:HGNC:2955]", "omim_id": "610565", "functional_summary": "D L4 localized basal body", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,21953912", "complex_components": {}, "pfam_ids": "PF01221", "domain_descriptions": ["Dynein light chain", "type 1/2", "Dynein light chain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100246", "synonym": "DJ327J16, PIG27", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnal4", "ortholog_xenopus": "dnal4", "ortholog_zebrafish": "dnal4a, dnal4b", "ortholog_drosophila": "CG8407", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.8608, "sd_percent_ciliated": 2.1121, "z_score": 0.1032, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.56, "sd_percent_ciliated": 2.56, "z_score": 2.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0559, "sd_percent_ciliated": -5.0559, "z_score": -5.0559, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DNALI1", "ensembl_id": "ENSG00000163879", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein axonemal light intermediate chain 1 [Source:HGNC Symbol,Acc:HGNC:14353]", "omim_id": "602135", "functional_summary": "Light chain of axonemal inner dynein arms protein. Formation of complexes with the dynein heavy chains, actin, and caltractin/centrin molecules required in ciliary motility (9284741)", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "26895965, 30408122", "complex_components": {}, "pfam_ids": "PF10211", "domain_descriptions": "Axonemal dynein light chain", "string_link": "https://string-db.org/network/9606/ENSG00000163879", "synonym": "DJ423B22.5, HP28, P28", "ortholog_mouse": "Dnali1", "ortholog_c_elegans": "dyla-1", "ortholog_xenopus": "dnali1", "ortholog_zebrafish": "dnali1", "ortholog_drosophila": "Dnali1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.0557, "sd_percent_ciliated": 9.1808, "z_score": -0.7213 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6081, "sd_percent_ciliated": 0.6081, "z_score": 0.6081 } ] }, { "gene": "DNHD1", "ensembl_id": "ENSG00000179532", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein heavy chain domain 1 [Source:HGNC Symbol,Acc:HGNC:26532]", "omim_id": "617277", "functional_summary": "In sperm from control individuals, the DNHD1 staining was present throughout the entire flagella with a high intensity in the midpiece of the sperm flagellum (36768883).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.6768883E7", "complex_components": {}, "pfam_ids": ["PF12775", "PF17852", "PF18199", "PF03028", "PF12780", "PF12774", "PF12777", "PF08393"], "domain_descriptions": ["Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3"], "string_link": "https://string-db.org/network/9606/ENSG00000179532", "synonym": "C11ORF47, CCDC35, DHCD1, DKFZP686J0796, DNHD1L, FLJ32752, FLJ35709, FLJ46184", "ortholog_mouse": "Dnhd1", "ortholog_xenopus": "dnhd1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.36, "sd_percent_ciliated": 2.36, "z_score": 2.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DNM2", "ensembl_id": "ENSG00000079805", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "dynamin 2 [Source:HGNC Symbol;Acc:HGNC:2974]", "omim_id": "602378", "functional_summary": "Since PQBP1 inhibits Dynamin 2 activity, inhibition of Dynamin 2 would be predicted to induce the formation of the neuronal cilium. Consistent with this prediction, Dynamin 2 knockdown promoted ciliary morphogenesis in hippocampal neurons. The percentage of neurons harboring a primary cilium was increased, and the cilium was substantially longer in Dynamin 2 knockdown neurons, suggesting that Dynamin 2 inhibits the formation and growth of the primary cilium in neurons. In epistasis analyses, Dynamin 2 knockdown suppressed the PQBP1 knockdown-induced phenotype of loss of cilia, suggesting that Dynamin 2 operates downstream of PQBP1 in the control of ciliary morphogenesis.Dynamin 2-GFP fusion protein partially colocalized with the centrosomal marker Pericentrin and PQBP1 in neurons(PMID: 23994472).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "23994472, 22342749 ,32973177 *", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000079805", "synonym": "CMT2M; CMTDI1; CMTDIB; DI-CMTB; DYN2; DYNII", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dnm2", "ortholog_c_elegans": "dyn-1", "ortholog_xenopus": "dnm2", "ortholog_zebrafish": "dnm2a, dnm2b", "ortholog_drosophila": "shi", "screens": [] }, { "gene": "DNMBP", "ensembl_id": "ENSG00000107554", "overexpression_effects": "not reported", "lof_effects": "not reported", "percent_ciliated_cells_effects": "decreased cilia number", "description": "dynamin binding protein [Source:HGNC Symbol,Acc:HGNC:30373]", "omim_id": "611282", "functional_summary": "Role in ciliogenesis and tubulogenesis, acting as a guanine nucleotide exchange factor that regulates Cdc42 activity. Depletion results in an absence of cilia, with impaired apical polarisation. Controller of left-right patterning (26895965). TUBA/Cdc42/Par6A complex is required to ensure the formation of a single apical domain during enterocyte polarization ( 30408122). Knockdown of Dnmbp in MDCK cells leads to a decrease in cilia.", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "21746835, 14630615, 30863317", "complex_components": {}, "pfam_ids": ["PF07653", "PF00621", "PF03114", "PF14604", "PF00018"], "domain_descriptions": ["Dbl homology domain", "Guanine-nucleotide dissociation stimulator", "CDC24", "conserved site", "SH3 domain", "BAR domain", "AH/BAR domain superfamily", "Dynamin-binding protein", "first C-terminal SH3 domain", "Dbl homology (DH) domain superfamily", "SH3-like domain superfamily", "Dynamin-binding and Rho GEF", "Dynamin-binding protein", "first N-terminal SH3 domain", "Dynamin-binding protein", "second N-terminal SH3 domain", "Dynamin-binding protein", "third N-terminal SH3 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000107554", "synonym": "ARHGEF36, KIAA1010, TUBA", "ortholog_mouse": "Dnmbp", "ortholog_c_elegans": "dnbp-1", "ortholog_xenopus": "dnmbp", "ortholog_zebrafish": "dnmbp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.242, "sd_percent_ciliated": 0.2175, "z_score": -0.2141 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.72, "sd_percent_ciliated": 2.72, "z_score": 2.72 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.9048, "sd_percent_ciliated": 1.9048, "z_score": 1.9048 } ] }, { "gene": "DOCK1", "ensembl_id": "ENSG00000150760", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dedicator of cytokinesis 1 [Source:HGNC Symbol,Acc:HGNC:2987]", "omim_id": "601403", "functional_summary": "Ezrin, ELMO-DOCK1 and its downstream effector Rac1 cooperate and function as a module during the highly coordi ted processes of ciliary basal body targeting and docking to the apical membrane. Co-immunostainings with Cep164 confirmed that DOCK1 localised to both mother and daughter centrioles.(25516973).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.5516973E7", "complex_components": ["BCAR1", "CRK", "DOCK1", "ELMO1", "RAC1", "ADGRA2", "ELMO2", "GNB1", "GNG2", "AXL", "MET"], "pfam_ids": ["PF06920", "PF16172", "PF20421", "PF14429", "PF00018", "PF20422", "PF23554"], "domain_descriptions": ["SH3 domain", "Armadillo-type fold", "Dedicator of cytokinesis", "C2 DOCK-type domain", "DOCKER domain", "Dedicator of cytokinesis", "N-terminal domain", "C2 domain superfamily", "SH3-like domain superfamily", "Dedicator of cytokinesis", "N-terminal", "subdomain 1", "Dedicator of cytokinesis", "C-terminal", "lobe A", "Dedicator of cytokinesis", "C-terminal", "lobe C", "DOCKER", "Lobe A", "DOCKER", "Lobe B", "DOCKER", "Lobe C", "Dedicator of cytokinesis protein 1/5", "SH3 domain", "Dedicator of cytokinesis protein 1", "C2 domain", "Dedicator of cytokinesis", "TPR repeats region"], "string_link": "https://string-db.org/network/9606/ENSG00000150760", "synonym": "CED5, DOCK180", "ortholog_mouse": "Dock1", "ortholog_c_elegans": "ced-5", "ortholog_xenopus": "dock1", "ortholog_zebrafish": "dock1", "ortholog_drosophila": "mbc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.5381, "sd_percent_ciliated": 0.1625, "z_score": -0.6629, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.7, "sd_percent_ciliated": 1.7, "z_score": 1.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7511, "sd_percent_ciliated": -1.7511, "z_score": -1.7511, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DPCD", "ensembl_id": "ENSG00000166171", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "deleted in primary ciliary dyskinesia homolog (mouse) [Source:HGNC Symbol,Acc:HGNC:24542]", "omim_id": "616467", "functional_summary": "Reported situs inversus, hydrocephalus, and suppurative rhinosinusitis in Dpcd/Poll鈥", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "23185275 ,14630615", "complex_components": {}, "pfam_ids": "PF14913", "domain_descriptions": "Protein DPCD", "string_link": "https://string-db.org/network/9606/ENSG00000166171", "synonym": "DKFZP566F084, RP11-529I10.4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dpcd", "ortholog_xenopus": "dpcd", "ortholog_zebrafish": "dpcd", "ortholog_drosophila": "CG13901", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.5327, "sd_percent_ciliated": 3.0515, "z_score": -0.1789 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.355, "sd_percent_ciliated": 0.355, "z_score": 0.355 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0802, "sd_percent_ciliated": -1.0802, "z_score": -1.0802 } ] }, { "gene": "DPF3", "ensembl_id": "ENSG00000205683", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "double PHD fingers 3 [Source:HGNC Symbol,Acc:HGNC:17427]", "omim_id": "601672", "functional_summary": "DPF3 depletion causes kinetochore fiber (K-fiber) instability, less stable kinetochore鈥搈icrotubule (KT鈥揗T) attachment and defects in chromosome alignment at the metaphase plate. DPF3 localized at the basal body of the primary cilium in quiescent vertebrate cells. Depletion of DPF3 dramatically arrested primary ciliogenesis at the initial step of axoneme extension(38661008).", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "3.8661008E7", "complex_components": {}, "pfam_ids": ["PF00628", "PF14051"], "domain_descriptions": ["Zinc finger", "PHD-type", "Zinc finger", "FYVE/PHD-type", "Zinc finger", "RING/FYVE/PHD-type", "Zinc finger C2H2-type", "Zinc finger", "PHD-finger", "DPF1-3", "N-terminal domain", "Zinc finger C2H2 superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000205683", "synonym": "BAF45C, CER-D4, CERD4, FLJ14079, SMARCG3", "ortholog_mouse": "Dpf3", "ortholog_c_elegans": "dpff-1", "ortholog_xenopus": "dpf3", "ortholog_zebrafish": "dpf3", "ortholog_drosophila": "d4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.9283, "sd_percent_ciliated": 8.0044, "z_score": 0.8383 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.063, "sd_percent_ciliated": 1.063, "z_score": 1.063 } ] }, { "gene": "DPYSL2", "ensembl_id": "ENSG00000092964", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dihydropyrimidinase like 2 [Source:HGNC Symbol,Acc:HGNC:3014]", "omim_id": "602463", "functional_summary": "Neuro l protein that guides neurite growth. Also called CRMP-2, is a GSK-3尾 substrate and a microtubule- binding protein. Required for primary cilium biogenesis.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "23354437, 29167384, 31960620, 25411337.", "complex_components": {}, "pfam_ids": "PF01979", "domain_descriptions": ["Amidohydrolase-related", "Metal-dependent hydrolase", "composite domain superfamily", "Hydantoinase/dihydropyrimidinase", "Metal-dependent hydrolase", "Metallo-dependent Hydrolases Superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000092964", "synonym": "CRMP2, DHPRP2, DRP-2, DRP2", "ortholog_mouse": "Dpysl2, Drp2", "ortholog_c_elegans": "dhp-1, dhp-2, dys-1", "ortholog_xenopus": "dpysl2, drp2", "ortholog_zebrafish": "dpysl2a, dpysl2b, drp2", "ortholog_drosophila": "CRMP, Dys", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.3803, "sd_percent_ciliated": 4.4738, "z_score": -0.1974, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.102, "sd_percent_ciliated": 0.102, "z_score": 0.102, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4003, "sd_percent_ciliated": 0.4003, "z_score": 0.4003, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DRAM2", "ensembl_id": "ENSG00000156171", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DNA damage regulated autophagy modulator 2 [Source:HGNC Symbol,Acc:HGNC:28769]", "omim_id": "613360", "functional_summary": "Mutations in the DRAM2 gene cause Cone-Rod Dystrophy (PMID: 25983245).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25983245 ,25983245", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156171", "synonym": "MGC54289, PRO180, RP5-1180E21.1, TMEM77, WWFQ154", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dram2", "ortholog_c_elegans": "C33A11.2, F11E6.6", "ortholog_zebrafish": "dram2b", "ortholog_drosophila": "CG4025", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.8656, "sd_percent_ciliated": 0.8656, "z_score": 0.8656, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DRC1", "ensembl_id": "ENSG00000157856", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "dynein regulatory complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:24245]", "omim_id": "615288", "functional_summary": "Structural component of the nexin-dynein regulatory complex (N-DRC), critical for regulation of the dynein motors. Its integrity is essential for the regulation of ciliary beat. Mutations are a cause for an autosomal recessive variant of primary ciliary dyskinesia (23354437). DRC1 and DRC2 form a subcomplex in the cytoplasm prior to assembly into the axoneme. DRC1 and DRC2 coassemble to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet (29167384). Loss of function of DRC1 may weaken the N鈥怐RC and its attachment to the peripheral , leading to axonemal microtubule disorganization (31960620). Shorter cilia length and reduced fluid-driving capability were consistent with the results observed in Drc1−/− mice.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Cilia length regulation", "reference": "27261005, 25564608, 23354437, https://doi.org/10.1038/s41419-025-07506-2 ,23354437", "complex_components": {}, "pfam_ids": ["PF14775", "PF14772"], "domain_descriptions": ["Dynein regulatory complex protein 1", "C-terminal", "Dynein regulatory complex protein 1/2", "N-terminal", "Dynein regulatory complex protein"], "string_link": "https://string-db.org/network/9606/ENSG00000157856", "synonym": "C2ORF39, CCDC164, CILD21, FLJ32660, MGC16372", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Drc1", "ortholog_xenopus": "drc1", "ortholog_zebrafish": "drc1", "ortholog_drosophila": "CG10958", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DRC3", "ensembl_id": "ENSG00000171962", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein regulatory complex subunit 3 [Source:HGNC Symbol,Acc:HGNC:25384]", "omim_id": "618758", "functional_summary": "Component of N-DRC, important in flagellar motility (27261005). Studies suggest it is required for other N-DRC components to assemble into the N-DRC. Its location suggests that DRC3 could be important for transducing regulatorysig ls from the radial spokes through the base plate of the N-DRC to the dynein motor (25564608).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cell migration & adhesion", "reference": "31659045, 31961863", "complex_components": {}, "pfam_ids": ["PF14580", "PF12799"], "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "Ciliary and flagellar integrity-associated protein", "Leucine rich repeat 4"], "string_link": "https://string-db.org/network/9606/ENSG00000171962", "synonym": "CFAP134, DKFZP586M1120, LRRC48", "ortholog_mouse": "Drc3", "ortholog_xenopus": "drc3", "ortholog_zebrafish": "drc3", "ortholog_drosophila": "Ppr-Y, TbCMF46", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DRC7", "ensembl_id": "ENSG00000159625", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein regulatory complex subunit 7 [Source:HGNC Symbol,Acc:HGNC:25289]", "omim_id": "618769", "functional_summary": "Central linker subunit that helps connect the N-DRC to the outer dynein arms. Loss of DRC7 causes defects in sperm storage and fertility (31659045). Essential for the correct assembly of the N-DRC and flagella, stability of the N-DRC is essential for proper axoneme elongation. DRC7 is essential to localize DRC5 in the correct place, and that DRC5 regulates flagellar motility (31961863)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.3936473E7", "complex_components": {}, "pfam_ids": ["PF24671", "PF24656", "PF24667"], "domain_descriptions": ["Dynein regulatory complex subunit 7", "Papain-like cysteine peptidase superfamily", "CEP76/DRC7", "peptidase-like domain", "Dynein regulatory complex subunit 7", "MORN domain", "Dynein regulatory complex subunit 7", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000159625", "synonym": "C16ORF50, CCDC135, CFAP50, DKFZP434I099, FAP50", "ortholog_mouse": "Drc7", "ortholog_xenopus": "drc7", "ortholog_zebrafish": "ccdc135", "ortholog_drosophila": "lobo", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.34, "sd_percent_ciliated": 8.34, "z_score": 8.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DRD1", "ensembl_id": "ENSG00000184845", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dopamine receptor D1 [Source:HGNC Symbol,Acc:HGNC:3020]", "omim_id": "126449", "functional_summary": "Role in motile ciliary beating in ependymal cells by regulation of catecholamines. Mediation of cellular responses to distinct endogenous catecholamines, which suggests that primary cilia play a fundamental role in enhancing the selectivity of integrated catecholamine sig ling (23936473)", "localization": "cilia, basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.1673453E7", "complex_components": ["ADORA1", "DRD1", "GHSR", "CRHR2", "ADRA1A", "AGTR2", "DRD2", "HRH3", "GRIN1", "GRIN2B", "DRD3", "NPFFR1", "NPFFR2"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Dopamine receptor family", "Dopamine D1 receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000184845", "synonym": "D1R", "ortholog_mouse": "Drd1", "ortholog_c_elegans": "dop-1", "ortholog_xenopus": "drd1", "ortholog_zebrafish": "drd1a, drd1b", "ortholog_drosophila": "Dop1R1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.8537, "sd_percent_ciliated": 4.4538, "z_score": -0.0189, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4623, "sd_percent_ciliated": -3.4623, "z_score": -3.4623, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DRD2", "ensembl_id": "ENSG00000149295", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dopamine receptor D2 [Source:HGNC Symbol,Acc:HGNC:3023]", "omim_id": "126450", "functional_summary": "Regulates hormone secretion and proliferation. Plays a key role in dopaminergic regulation (21673453)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Muscle contraction & physiology", "reference": "21709211 ,20531939", "complex_components": ["DISC1", "DRD2", "GNAI2", "CNR1", "ADORA2A", "GHSR", "GNAI1", "DRD3", "HTR2A", "HRH3", "SSTR2", "SSTR5", "BDKRB2", "NTSR1", "DRD1", "DRD4", "DRD5", "CHRM1", "GPR143"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Dopamine receptor family", "Dopamine D2 receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000149295", "synonym": "D2R", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Drd2", "ortholog_c_elegans": "dop-2, dop-3", "ortholog_xenopus": "drd2", "ortholog_zebrafish": "drd2a, drd2b", "ortholog_drosophila": "Dop2R", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.9042, "sd_percent_ciliated": 0.6068, "z_score": 0.8354, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.7, "sd_percent_ciliated": 4.7, "z_score": 4.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1093, "sd_percent_ciliated": -1.1093, "z_score": -1.1093, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DRD5", "ensembl_id": "ENSG00000169676", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dopamine receptor D5 [Source:HGNC Symbol,Acc:HGNC:3026]", "omim_id": "126453", "functional_summary": "Ciliary mechanosensory protein in vascular endothelial cells. DR5 activation increases cilia length in a concentration-dependent manner and restores cilia function in the mutant cells (21709211)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cilia length regulation", "reference": "18552847, 26399523 ,20531939", "complex_components": ["ADRA1A", "DRD5", "DRD2", "NPFFR1"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Dopamine D5 receptor", "Dopamine receptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000169676", "synonym": "DRD1B, DRD1L2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Drd5", "ortholog_c_elegans": "dop-1", "ortholog_xenopus": "drd5", "ortholog_zebrafish": "drd5a", "ortholog_drosophila": "Dop1R1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.6529, "sd_percent_ciliated": 6.6864, "z_score": -1.2547 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3992, "sd_percent_ciliated": -3.3992, "z_score": -3.3992 } ] }, { "gene": "DRG1", "ensembl_id": "ENSG00000185721", "overexpression_effects": "Not Reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "developmentally regulated GTP binding protein 1 [Source:HGNC Symbol,Acc:HGNC:3029]", "omim_id": "603952", "functional_summary": "Drg1 as a novel binding partner of Dvl that is required for the proper Dvl interaction with Daam1. These interactions play a crucial role in modulating the formation of the apical actin meshwork and basal body docking in the MCCs(31270137). Drg1 knockdown decreases the length of cilia.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "31270137, 31270137", "complex_components": ["DRG1", "ZC3H15"], "pfam_ids": ["PF01926", "PF02824", "PF16897"], "domain_descriptions": ["TGS", "Small GTP-binding domain", "GTP binding domain", "GTP1/OBG", "conserved site", "Beta-grasp domain superfamily", "TGS-like", "P-loop containing nucleoside triphosphate hydrolase", "OBG-type guanine nucleotide-binding (G) domain", "GTP binding protein", "second domain", "Developmentally regulated GTP-binding protein"], "string_link": "https://string-db.org/network/9606/ENSG00000185721", "synonym": "NEDD3", "ortholog_mouse": "Drg1", "ortholog_c_elegans": "T28D6.6", "ortholog_xenopus": "drg1", "ortholog_zebrafish": "drg1", "ortholog_drosophila": "128up", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.7181, "sd_percent_ciliated": 10.0068, "z_score": 1.2974 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 16.8, "sd_percent_ciliated": 16.8, "z_score": 16.8 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.9413, "sd_percent_ciliated": -10.9413, "z_score": -10.9413 } ] }, { "gene": "DROSHA", "ensembl_id": "ENSG00000113360", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "drosha ribonuclease III [Source:HGNC Symbol,Acc:HGNC:17904]", "omim_id": "608828", "functional_summary": "Knock down of GW182, hAgo2, Drosha and DGCR8 mR did not affect the appearance of the earliest stage of ciliogenesis but did prevent the formation and elongation of the ciliary axoneme ( 21880135).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "2.1880135E7", "complex_components": ["DDX1", "DDX17", "DDX3X", "DDX5", "DGCR8", "DHX15", "DROSHA", "EWSR1", "FUS", "HNRNPDL", "HNRNPH1", "HNRNPM", "HNRNPU", "HNRNPUL1", "ILF2", "ILF3", "RALY", "SRPK1", "TAF15", "TARDBP"], "pfam_ids": ["PF14622", "PF00035", "PF00636"], "domain_descriptions": ["Ribonuclease III domain", "Ribonuclease III", "Double-stranded RNA-binding domain", "Ribonuclease III", "endonuclease domain superfamily", "RNase III", "double-stranded RNA binding domain", "animal"], "string_link": "https://string-db.org/network/9606/ENSG00000113360", "synonym": "ETOHI2, HSA242976, RN3, RNASE3L, RNASEN", "ortholog_mouse": "Drosha", "ortholog_c_elegans": "drsh-1", "ortholog_xenopus": "drosha", "ortholog_zebrafish": "drosha", "ortholog_drosophila": "drosha", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13.4, "sd_percent_ciliated": 13.4, "z_score": 13.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.6178, "sd_percent_ciliated": -6.6178, "z_score": -6.6178, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DTNBP1", "ensembl_id": "ENSG00000047579", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dystrobrevin binding protein 1 [Source:HGNC Symbol,Acc:HGNC:17328]", "omim_id": "607145", "functional_summary": "The Dtnbp1sdy/sdy and Pldnpa/pa mouse phenotype strongly correlates with the biochemical and cell biology data and supports the conclusion that BLOC-1 is involved in trafficking polycystin-2 to primary cilia ( 28576874).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8576874E7", "complex_components": ["BLOC1S1", "BLOC1S2", "BLOC1S3", "BLOC1S4", "BLOC1S5", "BLOC1S6", "DTNBP1", "SNAPIN", "Bloc1s1", "Bloc1s2", "Bloc1s3", "Bloc1s4", "Bloc1s5", "Bloc1s6", "Dtnbp1", "Snapin", "AP3B1", "AP3D1", "AP3M1", "AP3S1", "HPS3", "HPS5", "HPS6", "TRIM32", "PRKDC", "XRCC5", "XRCC6", "HDAC3"], "pfam_ids": "PF04440", "domain_descriptions": "Dysbindin", "string_link": "https://string-db.org/network/9606/ENSG00000047579", "synonym": "BLOC1S8, DBND, DYSBINDIN, HPS7, MY031", "ortholog_mouse": "Dtnbp1", "ortholog_xenopus": "dtnbp1", "ortholog_zebrafish": "dtnbp1a, dtnbp1b", "ortholog_drosophila": "Dysb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.4377, "sd_percent_ciliated": 5.2018, "z_score": 0.7788 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.878, "sd_percent_ciliated": 0.878, "z_score": 0.878 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.9312, "sd_percent_ciliated": -1.9312, "z_score": -1.9312 } ] }, { "gene": "DUSP21", "ensembl_id": "ENSG00000189037", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dual specificity phosphatase 21 [Source:HGNC Symbol,Acc:HGNC:20476]", "omim_id": "300678", "functional_summary": "DUSP21 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00782", "domain_descriptions": ["Dual specificity phosphatase", "catalytic domain", "Tyrosine-specific protein phosphatases domain", "Protein-tyrosine phosphatase", "active site", "Atypical dual specificity phosphatase", "subfamily B", "Dual specificity protein phosphatase domain", "Protein-tyrosine phosphatase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000189037", "ortholog_mouse": "Dusp21", "ortholog_c_elegans": "C04F12.8", "ortholog_xenopus": "dusp18", "ortholog_zebrafish": "zgc:153044", "ortholog_drosophila": "CG15528", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 48.1357, "sd_percent_ciliated": 5.2554, "z_score": 1.2269, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.676, "sd_percent_ciliated": 0.676, "z_score": 0.676, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9807, "sd_percent_ciliated": 0.9807, "z_score": 0.9807, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DVL1", "ensembl_id": "ENSG00000107404", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dishevelled segment polarity protein 1 [Source:HGNC Symbol,Acc:HGNC:3084]", "omim_id": "601365", "functional_summary": "Essential for the docking of basal bodies to the apical plasma membrane through the activation of the Rho GTPase. DVL and Rho are required for the pla r polarization of basal bodies that underlies directio l beating of cilia (18552847). DVL is a central component of WNT sig lling. PTEN regulates multicilia formation and cilia disassembly by controlling the phosphorylation of DVL (26399523).", "localization": "flagella, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation", "reference": "30429209, 9971742, 19442771, 8666668 ,18552847", "complex_components": ["DVL1", "RYK", "PI4K2A", "PIP5K1B", "TSC2", "AXIN1", "GSK3B"], "pfam_ids": ["PF12316", "PF02377", "PF00610", "PF00778", "PF00595"], "domain_descriptions": ["DEP domain", "DIX domain", "PDZ domain", "Dishevelled protein domain", "Dishevelled family", "Dishevelled-related protein", "Dishevelled C-terminal", "Ubiquitin-like domain superfamily", "PDZ superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "DIX domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000107404", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dvl1", "ortholog_c_elegans": "dsh-1, dsh-2, mig-5", "ortholog_xenopus": "dvl1", "ortholog_zebrafish": "dvl1a, dvl1b", "ortholog_drosophila": "dsh", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.5238, "sd_percent_ciliated": 5.1473, "z_score": -0.3011 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.24, "sd_percent_ciliated": 5.24, "z_score": 5.24 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5322, "sd_percent_ciliated": -2.5322, "z_score": -2.5322 } ] }, { "gene": "DVL2", "ensembl_id": "ENSG00000004975", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dishevelled segment polarity protein 2 [Source:HGNC Symbol,Acc:HGNC:3086]", "omim_id": "602151", "functional_summary": "In control mice, immunoreactivity of Dvl2 in P31 E cells was observed primarily within the BB patch with some punctate staining outside the BB patch (25043421).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.5043421E7", "complex_components": ["DVL2", "INVS", "NPHP4", "RPGRIP1L", "DIAPH1", "IQGAP1", "LGR4", "MAP2K1", "MAP2K2", "PTK2", "PXN", "RSPO3", "WASL"], "pfam_ids": ["PF02377", "PF00595", "PF12316", "PF00778", "PF00610"], "domain_descriptions": ["DEP domain", "DIX domain", "PDZ domain", "Dishevelled protein domain", "Dishevelled family", "Dishevelled-2", "Dishevelled-related protein", "Dishevelled C-terminal", "Ubiquitin-like domain superfamily", "PDZ superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "DIX domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000004975", "ortholog_mouse": "Dvl2", "ortholog_c_elegans": "dsh-1, dsh-2, mig-5", "ortholog_xenopus": "dvl2", "ortholog_zebrafish": "dvl2", "ortholog_drosophila": "dsh", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.0547, "sd_percent_ciliated": 2.5369, "z_score": -0.9637 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.292, "sd_percent_ciliated": 0.292, "z_score": 0.292 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.543, "sd_percent_ciliated": -3.543, "z_score": -3.543 } ] }, { "gene": "DVL3", "ensembl_id": "ENSG00000161202", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dishevelled segment polarity protein 3 [Source:HGNC Symbol,Acc:HGNC:3087]", "omim_id": "601368", "functional_summary": "TTBK2 has the potential to effectively phosphorylate Cep164 and Cep97 and inhibits the interaction between Cep164 and its binding partner Dishevelled-3 (an important regulator of ciliogenesis) in a ki se activity-dependent manner (25297623).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5297623E7", "complex_components": {}, "pfam_ids": ["PF02377", "PF00610", "PF00778", "PF12316", "PF00595"], "domain_descriptions": ["DEP domain", "DIX domain", "PDZ domain", "Dishevelled protein domain", "Dishevelled family", "Dishevelled-3", "Dishevelled-related protein", "Dishevelled C-terminal", "Ubiquitin-like domain superfamily", "PDZ superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "DIX domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000161202", "synonym": "KIAA0208", "ortholog_mouse": "Dvl3", "ortholog_c_elegans": "dsh-1, dsh-2, mig-5", "ortholog_xenopus": "dvl3", "ortholog_zebrafish": "dvl3a", "ortholog_drosophila": "dsh", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.2917, "sd_percent_ciliated": 14.1234, "z_score": -0.3293, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4799, "sd_percent_ciliated": -0.4799, "z_score": -0.4799, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYDC1", "ensembl_id": "ENSG00000170788", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DPY30 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:23460]", "omim_id": "615154", "functional_summary": "DYDC1 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF05186", "domain_descriptions": ["Dpy-30 motif", "Sdc1/DPY30", "DPY30 domain-containing protein-like", "dimerization/docking domain"], "string_link": "https://string-db.org/network/9606/ENSG00000170788", "synonym": "BA36D19.5, DPY30D1", "ortholog_mouse": "Dydc1", "ortholog_xenopus": "dydc1", "ortholog_zebrafish": "dydc2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "DYDC2", "ensembl_id": "ENSG00000133665", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DPY30 domain containing 2 [Source:HGNC Symbol,Acc:HGNC:23468]", "functional_summary": "DYDC2 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/ ,22851692, 27486783", "complex_components": {}, "pfam_ids": "PF05186", "domain_descriptions": ["Dpy-30 motif", "Sdc1/DPY30", "DPY30 domain-containing protein-like", "dimerization/docking domain"], "string_link": "https://string-db.org/network/9606/ENSG00000133665", "synonym": "BA36D19.6, MGC16186", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dydc2", "ortholog_zebrafish": "dydc2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.469, "sd_percent_ciliated": 0.469, "z_score": 0.469, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7685, "sd_percent_ciliated": -4.7685, "z_score": -4.7685, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNC1H1", "ensembl_id": "ENSG00000197102", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein cytoplasmic 1 heavy chain 1 [Source:HGNC Symbol,Acc:HGNC:2961]", "omim_id": "600112", "functional_summary": "Titrated knock-down of dync1h1 indicated that outer segment morphogenesis was affected in photoreceptors that showed normal inner segments. Dync1h1, Dync1i1, and Dnct1 immunoreactivity is associated with photoreceptor axonemes.(20412557).", "localization": "cilia, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "20412557 ,26077881, 16440056", "complex_components": ["BCAS2", "BZW1", "CDC5L", "CWC15", "DYNC1H1", "GCN1", "HSPA8", "ILF2", "PLRG1", "PPM1D", "PPP1CA", "PRKDC", "PRPF19", "RBMX", "SCAF8", "SF3B1", "SF3B2", "SF3B4", "SFI1", "SFPQ", "SNRPA", "SNRPA1", "SNRPD1", "SNRPD2", "SNRPD3", "SRRM1", "SRSF1", "SRSF2", "TCF4", "TOP2A", "Dnaja1", "Dync1h1", "Dync1i1", "Dync1i2", "Dync1li1", "Dync2h1", "Dynll1", "Dynlrb1", "Dynlt1", "DYNC1I1", "DYNC1LI1", "DYNLL1", "DCTN1", "Dctn1", "Dctn2"], "pfam_ids": ["PF12780", "PF17852", "PF12777", "PF08393", "PF12781", "PF12775", "PF12774", "PF22597", "PF08385", "PF03028", "PF18199", "PF18198"], "domain_descriptions": ["AAA+ ATPase domain", "Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "Dynein heavy chain", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "AAA 5 extension domain", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein 2 heavy chain 1", "cytoplasmic", "ATPase lid domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "C-terminal domain", "barrel region"], "string_link": "https://string-db.org/network/9606/ENSG00000197102", "synonym": "CMT2O, DHC1, DNCH1, DNCHC1, DNCL, DNECL, HL-3, P22", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dync1h1", "ortholog_c_elegans": "dhc-1", "ortholog_zebrafish": "dync1h1", "ortholog_drosophila": "Dhc64C", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.2819, "sd_percent_ciliated": 2.4038, "z_score": 0.8811 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.94, "sd_percent_ciliated": 6.94, "z_score": 6.94 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.8042, "sd_percent_ciliated": -5.8042, "z_score": -5.8042 } ] }, { "gene": "DYNC1I1", "ensembl_id": "ENSG00000158560", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein cytoplasmic 1 intermediate chain 1 [Source:HGNC Symbol,Acc:HGNC:2963]", "omim_id": "603772", "functional_summary": "Dync1h1, Dync1i1, and Dnct1 immunoreactivity is associated with photoreceptor axonemes.(20412557).", "localization": "cilia, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.0412557E7", "complex_components": ["Dnaja1", "Dync1h1", "Dync1i1", "Dync1i2", "Dync1li1", "Dync2h1", "Dynll1", "Dynlrb1", "Dynlt1", "DYNC1H1", "DYNC1I1", "DYNC1LI1", "DYNLL1", "DCTN1", "Dctn1", "Dctn2", "BICD2", "NUDC", "PLK1"], "pfam_ids": ["PF11540", "PF00400"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Cytoplasmic dynein 1 intermediate chain 1/2", "WD40-repeat-containing domain superfamily", "Dynein Intermediate Chain"], "string_link": "https://string-db.org/network/9606/ENSG00000158560", "synonym": "DNCI1, DNCIC1", "ortholog_mouse": "Dync1i1", "ortholog_c_elegans": "dyci-1", "ortholog_xenopus": "dync1i1", "ortholog_zebrafish": "dync1i1b", "ortholog_drosophila": "Sdic1, Sdic2, Sdic3, Sdic4, SdicA, SdicB, SdicC, sw", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.93, "sd_percent_ciliated": 2.93, "z_score": 2.93, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5772, "sd_percent_ciliated": -2.5772, "z_score": -2.5772, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNC1I2", "ensembl_id": "ENSG00000292102", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein cytoplasmic 1 intermediate chain 2 [Source:HGNC Symbol,Acc:HGNC:2964]", "omim_id": "603331", "functional_summary": "DYNC1I2 has localized in basal body,flagella.", "localization": "basal body,flagella, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/ ,16440056", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292102", "synonym": "DIC74, DNCI2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dync1i2", "ortholog_c_elegans": "dyci-1", "ortholog_xenopus": "dync1i2", "ortholog_zebrafish": "dync1i2a, dync1i2b", "ortholog_drosophila": "Sdic1, Sdic2, Sdic3, Sdic4, SdicA, SdicB, SdicC, sw", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.67, "sd_percent_ciliated": 4.67, "z_score": 4.67, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.9921, "sd_percent_ciliated": -12.9921, "z_score": -12.9921, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNC1LI1", "ensembl_id": "ENSG00000144635", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein cytoplasmic 1 light intermediate chain 1 [Source:HGNC Symbol,Acc:HGNC:18745]", "omim_id": "615890", "functional_summary": "Expression of a DLIC-1-binding truncation mutant of FIP3 disrupts the ability of ERC proteins to accumulate pericentrosomally (expression of a DLIC-1-binding truncation mutant of FIP3 disrupts the ability of ERC proteins to accumulate pericentrosomally.).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.0026645E7", "complex_components": ["Dnaja1", "Dync1h1", "Dync1i1", "Dync1i2", "Dync1li1", "Dync2h1", "Dynll1", "Dynlrb1", "Dynlt1", "DYNC1H1", "DYNC1I1", "DYNC1LI1", "DYNLL1", "DCTN1", "Dctn1", "Dctn2", "IKBKG", "RAB11A"], "pfam_ids": "PF05783", "domain_descriptions": ["Dynein 1 light intermediate chain", "Dynein family light intermediate chain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000144635", "synonym": "DNCLI1", "ortholog_mouse": "Dync1li1", "ortholog_c_elegans": "dli-1", "ortholog_xenopus": "dync1li1", "ortholog_zebrafish": "dync1li1", "ortholog_drosophila": "Dlic", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.06, "sd_percent_ciliated": 1.06, "z_score": 1.06, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5303, "sd_percent_ciliated": -3.5303, "z_score": -3.5303, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNC1LI2", "ensembl_id": "ENSG00000135720", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein cytoplasmic 1 light intermediate chain 2 [Source:HGNC Symbol,Acc:HGNC:2966]", "omim_id": "611406", "functional_summary": "DYNC1LI2 has localized in flagella.", "localization": "flagella, Centrosome, Cytosol", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF05783", "domain_descriptions": ["Dynein 1 light intermediate chain", "Dynein family light intermediate chain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000135720", "synonym": "DNCLI2", "ortholog_mouse": "Dync1li2", "ortholog_c_elegans": "dli-1", "ortholog_xenopus": "dync1li2", "ortholog_zebrafish": "dync1li2", "ortholog_drosophila": "Dlic", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0458, "sd_percent_ciliated": 0.0458, "z_score": 0.0458, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.365, "sd_percent_ciliated": -4.365, "z_score": -4.365, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNC2H1", "ensembl_id": "ENSG00000187240", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein cytoplasmic 2 heavy chain 1 [Source:HGNC Symbol,Acc:HGNC:2962]", "omim_id": "603297", "functional_summary": "Also known as DHC2. Component of interflagellar transport dynein assembly complex, that regulates retrograde trafficking from the ciliary tip to the base (30429209, 9971742). Directly involved in the contacts and translocation of the dynein complex along via its large motor domain (19442771). Role in Golgi organisation and function (8666668).", "localization": "basal body, transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "28857138, 26130459, 26077881, 23456818, 36599940 ,36599940; 23456818; 24989795, 26077881", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": ["PF08385", "PF08393", "PF12774", "PF12780", "PF18199", "PF18198", "PF12781", "PF03028", "PF21264", "PF12777", "PF12775", "PF22597"], "domain_descriptions": ["Dynein heavy chain", "tail", "Dynein heavy chain", "linker", "Dynein heavy chain", "AAA+ ATPase domain", "Dynein heavy chain region D6 P-loop domain", "Dynein heavy chain", "AAA module D4", "Dynein heavy chain", "coiled coil stalk", "P-loop containing nucleoside triphosphate hydrolase", "Dynein heavy chain", "hydrolytic ATP-binding dynein motor region", "Dynein heavy chain", "ATP-binding dynein motor region", "Dynein heavy chain", "C-terminal domain", "Dynein heavy chain AAA lid domain", "Dynein heavy chain AAA lid domain superfamily", "Dynein heavy chain", "domain 2", "N-terminal", "Dynein heavy chain", "linker", "subdomain 3", "Dynein heavy chain", "AAA1 domain", "small subdomain", "Dynein heavy chain", "C-terminal domain", "barrel region", "Cytoplasmic dynein 2 heavy chain 1", "AAA+ ATPase domain", "Dynein 2 heavy chain 1", "cytoplasmic", "ATPase lid domain"], "string_link": "https://string-db.org/network/9606/ENSG00000187240", "synonym": "DHC1B, DHC2, DNCH2, DYH1B, HDHC11", "ciliopathy": "Ellis-van Creveld Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dync2h1", "ortholog_c_elegans": "che-3", "ortholog_xenopus": "dync2h1", "ortholog_zebrafish": "dync2h1", "ortholog_drosophila": "btv", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 219, "sd_percent_ciliated": 219, "z_score": 219, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3436, "sd_percent_ciliated": -2.3436, "z_score": -2.3436, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNC2I1", "ensembl_id": "ENSG00000126870", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein 2 intermediate chain 1 [Source:HGNC Symbol,Acc:HGNC:21862]", "omim_id": "615462", "functional_summary": "WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and a lysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the basal body or basal body in the absence of an obvious axoneme(23910462).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transcription regulation", "reference": "23910462, 23910462, 25492405 ,23910462, 25492405", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000126870", "synonym": "CFAP163, DIC6, FAP163, FLJ10300, WDR60", "ciliopathy": "Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dync2i1", "ortholog_c_elegans": "wdr-60", "ortholog_xenopus": "dync2i1", "ortholog_zebrafish": "dync2i1", "ortholog_drosophila": "CG15701", "screens": {} }, { "gene": "DYNC2I2", "ensembl_id": "ENSG00000119333", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein 2 intermediate chain 2 [Source:HGNC Symbol,Acc:HGNC:28296]", "omim_id": "613363", "functional_summary": "Dynein intermediate chain associated with the retrograde intraflagellar transport motor dynein 2 (25205765). Orthologous to Chlamydomo s FAP133 and Trypanosome DIC5 (24989795). Homozygous missense mutations cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia (OMIM:, 24183449, 24183451). Acts as a TAK1-associated suppressor of the IL- 1R/TLR3/TLR4-induced NF- 魏B activation pathway. Patient fibroblast cilia are short with a bulbous tip (24183449). Localises around basal bodies, centrioles and along the axoneme (24183451). Interacts with DYNLL1 and DYNLL2 (25294941), TCTEX1D2 (25830415). Required for retrograde IFT and Hedgehog sig lling in mouse (28379358). WDR34 KO cells can assemble a dynein-2 motor complex that binds IFT proteins yet fails to extend an axoneme (30320547). Incorporation of DYNLL1/DYNLL2 and DYNLRB1/DYNLRB2 into the dynein-2 complex via interactions with the WDR34 intermediate chain is crucial for dynein-2 function in retrograde ciliary protein trafficking (30649997), Dynein 2 intermediate chain. Biallelic truncating, frameshift or missense mutations cause autosomal recessive short-rib thoracic dysplasia type 8 with or without polydactyly (OMIM:615462) (23910462). Localizes to the base of the cilium in human chondrocytes (23910462), RPE1 cells (25205765) and HEK293 cells (25830415). Ciliogenesis is inhibited in fibroblasts from affected patients, GLI2 accumulates at basal body (23910462). Stability of WDR34 and WDR60 is interdependent (25205765). Localises to the centrosome in interphase, the spindle poles during mitosis and cytokinesis, and near the cytokinetic bridge during cytokinesis in HeLa cells (25830415). Interaction with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking. (29742051).WDR60 KO cells extend axonemes but show reduced assembly of dynein-2 and binding to IFT proteins. Required to maintain a functio l transition zone and for efficient bidirectio l intraflagellar transport (30320547, 30649997). Structure resolved in 31451806", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "20817137, 21473986 , 22987818, 30570184, 31197141, 31816041, 24183451, 33124039 ,24183451; 33124039", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Dynein Intermediate Chain"], "string_link": "https://string-db.org/network/9606/ENSG00000119333", "synonym": "BA216B9.3, CFAP133, DIC5, FAP133, MGC20486, WDR34", "ciliopathy": "Short-rib Thoracic Dysplasia; Cone-Rod Dystrophy", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dync2i2", "ortholog_xenopus": "dync2i2", "ortholog_zebrafish": "dync2i2", "screens": {} }, { "gene": "DYNC2LI1", "ensembl_id": "ENSG00000138036", "overexpression_effects": "no effect", "lof_effects": "longer cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "dynein cytoplasmic 2 light intermediate chain 1 [Source:HGNC Symbol,Acc:HGNC:24595]", "omim_id": "617083", "functional_summary": "Component of the dynein鈥. DYNC2LI1 knockdown led to significantly increased variation in cilia length.", "localization": "basal body, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone, Cilia length regulation", "reference": "25294941, 30649997, 28857138, 26077881, DOI: 10.1038/ncomms8092 ,28857138; 26077881; 26130459", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": "PF05783", "domain_descriptions": ["Dynein family light intermediate chain", "P-loop containing nucleoside triphosphate hydrolase", "Cytoplasmic dynein 2 light intermediate chain 1"], "string_link": "https://string-db.org/network/9606/ENSG00000138036", "synonym": "CGI-60, D2LIC, DKFZP564A033, LIC3", "ciliopathy": "Ellis-van Creveld Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dync2li1", "ortholog_c_elegans": "xbx-1", "ortholog_xenopus": "dync2li1", "ortholog_zebrafish": "dync2li1", "ortholog_drosophila": "CG3769", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 101, "sd_percent_ciliated": 101, "z_score": 101, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9656, "sd_percent_ciliated": -1.9656, "z_score": -1.9656, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNLL1", "ensembl_id": "ENSG00000088986", "overexpression_effects": "not reported", "lof_effects": "no effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "dynein light chain LC8-type 1 [Source:HGNC Symbol,Acc:HGNC:15476]", "omim_id": "601562", "functional_summary": "Control of retrograde intraflagellar trafficking of ciliary proteins through interaction with WDR34 and ciliogenesis by serving as dynein-1 subunits (25294941, 30649997).Dynll1(GT/GT) embryonic cilia exhibited shortening and bulging, highly similar to the characterised retrograde IFT phenotype of Dync2h1. Depletion of ATMIN or DYNLL1 in cultured cells recapitulated the in vivo ciliogenesis phenotypes and expression of DYNLL1 or the related DYNLL2 rescued the effects of loss of ATMIN, demonstrating that ATMIN primarily promotes ciliogenesis by regulating Dynll1 expression(PMID: 25294941). Cilia length was unaffected by the loss of DYNLL1.", "localization": "basal body, cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "25294941, 30649997, https://doi.org/10.1093/hmg/ddz083", "complex_components": ["Dnaja1", "Dync1h1", "Dync1i1", "Dync1i2", "Dync1li1", "Dync2h1", "Dynll1", "Dynlrb1", "Dynlt1", "DYNC1H1", "DYNC1I1", "DYNC1LI1", "DYNLL1", "DCTN1", "Dctn1", "Dctn2", "DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3", "KNSTRN", "PLK1", "SGO2", "SPAG5"], "pfam_ids": "PF01221", "domain_descriptions": ["Dynein light chain", "type 1/2", "Dynein light chain", "type 1/2", "conserved site", "Dynein light chain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000088986", "synonym": "DLC1, DLC8, DNCL1, HDLC1, LC8, PIN", "ortholog_mouse": "Dlc1, Dynll1", "ortholog_c_elegans": "dlc-1, gei-1", "ortholog_xenopus": "dlc1, dynll1", "ortholog_zebrafish": "dlc1, dynll1", "ortholog_drosophila": "Cdlc2, ctp, cv-c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 163, "sd_percent_ciliated": 163, "z_score": 163, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7738, "sd_percent_ciliated": -3.7738, "z_score": -3.7738, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNLL2", "ensembl_id": "ENSG00000264364", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein light chain LC8-type 2 [Source:HGNC Symbol,Acc:HGNC:24596]", "omim_id": "608942", "functional_summary": "Protein existing within cytoplasmic dynein 2. Interacts with DYNLL1 and WDR34 to control retrograde intraflagellar transport. Studies suggest that DYNLL2 may be able to function in place of DYNLL1. (25294941, 30649997)", "localization": "basal body, cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25205765, 30649997, 32088381", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3", "DLG4", "DLGAP1"], "pfam_ids": "PF01221", "domain_descriptions": ["Dynein light chain", "type 1/2", "Dynein light chain", "type 1/2", "conserved site", "Dynein light chain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000264364", "synonym": "DLC2, DNCL1B, MGC17810, RSPH22", "ortholog_mouse": "Dynll2", "ortholog_c_elegans": "dlc-1", "ortholog_xenopus": "dynll2", "ortholog_zebrafish": "dynll2a, dynll2b", "ortholog_drosophila": "Cdlc2, ctp", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.254, "sd_percent_ciliated": 0.254, "z_score": 0.254, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.5765, "sd_percent_ciliated": -12.5765, "z_score": -12.5765, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNLRB1", "ensembl_id": "ENSG00000125971", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein light chain roadblock-type 1 [Source:HGNC Symbol,Acc:HGNC:15468]", "omim_id": "607167", "functional_summary": "Required for the correct assembly of the dynein complex. It has been implicated in controlling its association with cargo molecules (25205765). Component of the WDR34 subcomplex (DYNLL1/DYNLL2 and DYNLRB1/DYNLRB2), crucial for dynein-2 function in retrograde ciliary protein trafficking (30649997). DYNLRB1 is essential for dynein-mediated axo l transport of lysosomes, late endosomes and sig ling endosomes (32088381)", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "30649997, 32088381 ,21953912", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": "PF03259", "domain_descriptions": ["Roadblock/LAMTOR2 domain", "Dynein light chain roadblock-type 1/2"], "string_link": "https://string-db.org/network/9606/ENSG00000125971", "synonym": "DNCL2A, DNLC2A, ROBLD1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dynlrb1", "ortholog_c_elegans": "dyrb-1", "ortholog_xenopus": "dynlrb1", "ortholog_zebrafish": "dynlrb1", "ortholog_drosophila": "robl, robl22E", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 23.1, "sd_percent_ciliated": 23.1, "z_score": 23.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7865, "sd_percent_ciliated": -1.7865, "z_score": -1.7865, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNLRB2", "ensembl_id": "ENSG00000168589", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein light chain roadblock-type 2 [Source:HGNC Symbol,Acc:HGNC:15467]", "omim_id": "607168", "functional_summary": "Component of the WDR34 subcomplex (DYNLL1/DYNLL2 and DYNLRB1/DYNLRB2), crucial for dynein-2 function in retrograde ciliary protein trafficking (30649997, 32088381).", "localization": "cilia , transition zone ,basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "21700358, 21394082, 35637434 ,35637434; 21953912", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": "PF03259", "domain_descriptions": ["Roadblock/LAMTOR2 domain", "Dynein light chain roadblock-type 1/2"], "string_link": "https://string-db.org/network/9606/ENSG00000168589", "synonym": "DNCL2B, DNLC2B, ROBLD2", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dynlrb2", "ortholog_c_elegans": "dyrb-1", "ortholog_xenopus": "dynlrb2", "ortholog_zebrafish": "dynlrb2", "ortholog_drosophila": "robl, robl22E", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.111, "sd_percent_ciliated": 0.111, "z_score": 0.111, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0724, "sd_percent_ciliated": -5.0724, "z_score": -5.0724, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNLT1", "ensembl_id": "ENSG00000146425", "overexpression_effects": "not reported", "lof_effects": "longer cilia", "percent_ciliated_cells_effects": "not reported", "description": "dynein light chain Tctex-type 1 [Source:HGNC Symbol,Acc:HGNC:11697]", "omim_id": "601554", "functional_summary": "Also known as TCTEX1. Light chain subunit of cytoplasmic dynein. Regulation of ciliary resorption and S-phase entry. Tctex-1 is not required for ciliogenesis, but is critical for cilium disassembly (21394082). Component of dynein-2. Modulator of cilia length control, depletion is associated to increased cilia length (21700358). Depletion of Tctex-1 results in increase cilia length.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "26485514, 21700358", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3", "CACNA1A", "CACNA1B"], "pfam_ids": "PF03645", "domain_descriptions": ["Dynein light chain Tctex-1 like", "Tctex-1-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000146425", "synonym": "TCTEL1, TCTEX-1, TCTEX1", "ortholog_mouse": "Dynlt1a, Dynlt1b, Dynlt1c, Dynlt1f", "ortholog_c_elegans": "dylt-1", "ortholog_xenopus": "dynlt1", "ortholog_zebrafish": "dynlt1a, dynlt1b", "ortholog_drosophila": "Dlc90F", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 111, "sd_percent_ciliated": 111, "z_score": 111, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 86.1, "sd_percent_ciliated": 86.1, "z_score": 86.1, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 111, "sd_percent_ciliated": 111, "z_score": 111, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.419, "sd_percent_ciliated": -10.419, "z_score": -10.419, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYNLT2B", "ensembl_id": "ENSG00000213123", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dynein light chain Tctex-type 2B [Source:HGNC Symbol,Acc:HGNC:28482]", "omim_id": "617353", "functional_summary": "Dynein-2 light chain, required for cilia function. Associates with WDR34 (25205765) and WDR60, which is required for ciliary protein trafficking, as KO cells show defects in retrograde ciliary protein trafficking (29742051). Causative gene for short-rib polydactyly syndromes. Associates with Dync2h1 and other subunits of the Dync2 complex to deliver specific cargo necessary for ciliogenesis to the base of the cilium (25830415). Mutations cause Jeune asphyxiating thoracic dystrophy (26044572).", "localization": "transition zone, basal body,", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "21725307, 28800946, 29725084., 26044572 ,26044572", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": "PF03645", "domain_descriptions": ["Dynein light chain Tctex-1 like", "Tctex-1-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000213123", "synonym": "MGC33212, TCTEX1D2", "ciliopathy": "Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dynlt2b", "ortholog_c_elegans": "dylt-2", "ortholog_xenopus": "dynlt2b", "ortholog_zebrafish": "dynlt2b", "ortholog_drosophila": "CG5359, CG7276", "screens": {} }, { "gene": "DYRK1A", "ensembl_id": "ENSG00000157540", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "dual specificity tyrosine phosphorylation regulated kinase 1A [Source:HGNC Symbol,Acc:HGNC:3091]", "omim_id": "600855", "functional_summary": "The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos(32467234).", "localization": "basal body , cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.2467234E7", "complex_components": ["DCAF7", "DYRK1A"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Dual specificity tyrosine-phosphorylation-regulated kinase 1A/1B", "catalytic domain", "Serine/threonine and dual-specificity kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000157540", "synonym": "DYRK, DYRK1, MNBH", "ortholog_mouse": "Dyrk1a", "ortholog_c_elegans": "mbk-1", "ortholog_xenopus": "dyrk1a", "ortholog_zebrafish": "dyrk1aa, dyrk1ab", "ortholog_drosophila": "mnb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.7709, "sd_percent_ciliated": 2.0779, "z_score": 0.0923 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.568, "sd_percent_ciliated": 0.568, "z_score": 0.568 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.6835, "sd_percent_ciliated": -2.6835, "z_score": -2.6835 } ] }, { "gene": "DYRK2", "ensembl_id": "ENSG00000127334", "overexpression_effects": "no effect", "lof_effects": "longer cilia", "percent_ciliated_cells_effects": "not reported", "description": "dual specificity tyrosine phosphorylation regulated kinase 2 [Source:HGNC Symbol,Acc:HGNC:3093]", "omim_id": "603496", "functional_summary": "CEP78 interacts with the EDD1-DYRK2-DDB1VPRBP E3 ubiquitin ligase complex, which is involved in CP110 ubiquiti tion and degradation, and identified a novel interaction between CEP78 and CEP350 that is weakened by the CEP78L150S mutation(34259627). Cep78 controls centrosome homeostasis by inhibiting EDD鈥怐YRK2鈥怐DB1Vpr BP (28242748)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "34259627 , 28242748, https://doi.org/10.1038/s42003-025-08373-5 ,32758357", "complex_components": ["DCAF1", "DDB1", "DYRK2", "UBR5", "CEP78"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Dual specificity tyrosine-phosphorylation-regulated kinase", "Serine/threonine and dual-specificity kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000127334", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dyrk2", "ortholog_c_elegans": "C36B7.1, mbk-2", "ortholog_xenopus": "dyrk2", "ortholog_zebrafish": "dyrk2", "ortholog_drosophila": "Dyrk3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.4837, "sd_percent_ciliated": 8.7192, "z_score": -0.5483, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 8.65, "sd_percent_ciliated": 8.65, "z_score": 8.65, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9153, "sd_percent_ciliated": -2.9153, "z_score": -2.9153, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DYRK3", "ensembl_id": "ENSG00000143479", "overexpression_effects": "not reported", "lof_effects": "longer cilia", "percent_ciliated_cells_effects": "no effect", "description": "dual specificity tyrosine phosphorylation regulated kinase 3 [Source:HGNC Symbol,Acc:HGNC:3094]", "omim_id": "603497", "functional_summary": "Dual specificity tyrosine phosphorylation regulated kinase 3. DYRK3 depletion by siRNA or shRNA both led to a significant increase in cilium length.", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "40841441, https://doi.org/10.1038/s42003-025-08373-5", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Dual specificity tyrosine-phosphorylation-regulated kinase", "Serine/threonine and dual-specificity kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000143479", "synonym": "HYAK3-2, RED, REDK", "ortholog_mouse": "Dyrk3", "ortholog_c_elegans": "C36B7.1, mbk-2", "ortholog_xenopus": "dyrk3", "ortholog_zebrafish": "dyrk3", "ortholog_drosophila": "Dyrk3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.5975, "sd_percent_ciliated": 11.3506, "z_score": -0.171, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.03, "sd_percent_ciliated": 1.03, "z_score": 1.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6937, "sd_percent_ciliated": -3.6937, "z_score": -3.6937, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DZANK1", "ensembl_id": "ENSG00000089091", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "double zinc ribbon and ankyrin repeat domains 1 [Source:HGNC Symbol,Acc:HGNC:15858]", "omim_id": "620905", "functional_summary": "Interaction partner of NINL. NINL-DZANK1 is involved in the proper assembly and folding of the cytoplasmic dynein 1 motor complex, which is essential for intracellular dynein-based transport (26485514)", "localization": "transition zone, basal body", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "27979967, 32491167, 31118289, 23955340, 25860027", "complex_components": {}, "pfam_ids": ["PF12796", "PF12773", "PF13287"], "domain_descriptions": ["Ankyrin repeat", "Double zinc ribbon", "Fn3 associated repeat", "Ankyrin repeat-containing domain superfamily", "Double zinc ribbon and ankyrin repeat-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000089091", "synonym": "ANKRD64, BA189K21.8, C20ORF12, C20ORF84, DJ568F9.2, FLJ10600, FLJ30892", "ortholog_mouse": "Dzank1", "ortholog_c_elegans": "F25H2.3", "ortholog_xenopus": "dzank1", "ortholog_zebrafish": "dzank1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.21, "sd_percent_ciliated": 1.21, "z_score": 1.21, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7317, "sd_percent_ciliated": -3.7317, "z_score": -3.7317, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "DZIP1", "ensembl_id": "ENSG00000134874", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "not reported", "description": "DAZ interacting zinc finger protein 1 [Source:HGNC Symbol,Acc:HGNC:20908]", "omim_id": "608671", "functional_summary": "Mediates membrane/basal- body interactions, functions in basal-body maturation and transition zone organisation. Required to recruit Fam92 and Cby at the basal body distal end, allowing proper transition zone assembly, both DZIP and FARM92 control the distal elongation of basal bodies and docking to the plasma membrane (31821146, 32491167). Mediates the assembly of the BBSome-Dzip1-PCM1 complex in the centriolar satellites for ciliary translocation of the BBSome (27979967). Necessary for recruiting IFT machinery to the distal appendages of the mother centrioles and for bridging IFT88 to the cargo that contains GLI3. Positive regulator of Shh (23955340). Together with GSK3尾 and Rab8, DZIP1 co- regulates ciliogenesis by promoting ciliary membrane assembly (25860027). Dzip1 conditional knockout and mutant mitral valves were previously shown to have reduced cilia length.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone, Cilia length regulation", "reference": "29487109, 28530676, https://doi.org/10.1002/dvdy.342", "complex_components": ["DZIP1", "GLI3", "CEP164", "IFT88"], "pfam_ids": "PF13815", "domain_descriptions": ["Zinc finger C2H2-type", "Cilium assembly protein DZIP1", "N-terminal", "DZIP and RILPL"], "string_link": "https://string-db.org/network/9606/ENSG00000134874", "synonym": "DZIP, KIAA0996", "ortholog_mouse": "Dzip1", "ortholog_xenopus": "dzip1", "ortholog_zebrafish": "dzip1", "ortholog_drosophila": "DZIP1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.2716, "z_score": -1.4858, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 15.9569, "z_score": -2.6718, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.8605 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.68, "z_score": 2.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.68 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0951, "z_score": 0.0951, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.0951 } ] }, { "gene": "DZIP1L", "ensembl_id": "ENSG00000158163", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DAZ interacting zinc finger protein 1 like [Source:HGNC Symbol,Acc:HGNC:26551]", "omim_id": "617570", "functional_summary": "Role in Hh sig ling and ciliogenesis. It promotes ciliary bud formation by removing Cp110 from the distal end of the mother centriole, and is required for the integrity of the transition zone as it is implicated in mainte nce of the periciliary diffusion barrier at the ciliary transition zone. Regulates the localisation of Cby to the appemdahes of mother centriole. (29487109, 28530676)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "28675157, 28530676, 35032595 ,35032595; 28530676", "complex_components": {}, "pfam_ids": "PF13815", "domain_descriptions": ["Zinc finger C2H2-type", "Cilium assembly protein DZIP1", "N-terminal", "DZIP and RILPL"], "string_link": "https://string-db.org/network/9606/ENSG00000158163", "synonym": "DZIP2, FLJ32844", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease; Autosomal Recessive Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Dzip1l", "ortholog_xenopus": "dzip1l", "ortholog_zebrafish": "dzip1l", "ortholog_drosophila": "DZIP1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.05, "sd_percent_ciliated": 6.05, "z_score": 6.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3255, "sd_percent_ciliated": -3.3255, "z_score": -3.3255, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "E2F4", "ensembl_id": "ENSG00000205250", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "E2F transcription factor 4 [Source:HGNC Symbol,Acc:HGNC:3118]", "omim_id": "600659", "functional_summary": "Mediation of the transcriptio l responses of Multicilin. Forms apical cytoplasmic organizing centres for multiciliogenesis, recruitment and accumulation of early regulators of centriole biogenesis to allow assembly and nucleation of deuterosomes (28675157).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "24582806 ,28675157", "complex_components": ["E2F4", "E2F5", "RBL1", "SMAD3", "SMAD4", "TFDP1", "CCNA2", "RB1", "DNMT1", "HDAC1", "RBL2", "SUV39H1", "EP300", "CCNE1", "LIN37", "LIN52", "LIN54", "LIN9", "RBBP4"], "pfam_ids": ["PF02319", "PF16421"], "domain_descriptions": ["E2F/DP family", "winged-helix DNA-binding domain", "E2F Family", "E2F transcription factor", "CC-MB domain", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "E2F-DP heterodimerization region"], "string_link": "https://string-db.org/network/9606/ENSG00000205250", "synonym": "E2F-4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "E2f4", "ortholog_c_elegans": "efl-1", "ortholog_xenopus": "e2f4", "ortholog_zebrafish": "e2f4", "ortholog_drosophila": "E2f2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.0075, "sd_percent_ciliated": 8.6578, "z_score": -0.7271, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.559, "sd_percent_ciliated": 0.559, "z_score": 0.559, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2143, "sd_percent_ciliated": -2.2143, "z_score": -2.2143, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "E2F5", "ensembl_id": "ENSG00000133740", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "E2F transcription factor 5 [Source:HGNC Symbol,Acc:HGNC:3119]", "omim_id": "600967", "functional_summary": "Both E2f4 and E2f5 contribute to multiciliated cell (MCC) formation in zebrafish. The master regulator for MCC development, Gmnc, interacts with both E2f4 and E2f5 ( 30218642).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.0218642E7", "complex_components": ["E2F5", "RBL2", "TFDP1", "E2F4", "RBL1", "SMAD3", "SMAD4", "DNMT1", "HDAC1", "SUV39H1", "EP300"], "pfam_ids": ["PF16421", "PF02319"], "domain_descriptions": ["E2F/DP family", "winged-helix DNA-binding domain", "E2F Family", "E2F transcription factor", "CC-MB domain", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "E2F-DP heterodimerization region"], "string_link": "https://string-db.org/network/9606/ENSG00000133740", "ortholog_mouse": "E2f5", "ortholog_c_elegans": "efl-1, efl-2", "ortholog_xenopus": "e2f5", "ortholog_zebrafish": "e2f5", "ortholog_drosophila": "E2f2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.0109, "sd_percent_ciliated": 2.8949, "z_score": -0.7267 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.48, "sd_percent_ciliated": 3.48, "z_score": 3.48 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2851, "sd_percent_ciliated": -0.2851, "z_score": -0.2851 } ] }, { "gene": "E2F7", "ensembl_id": "ENSG00000165891", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "E2F transcription factor 7 [Source:HGNC Symbol,Acc:HGNC:23820]", "omim_id": "612046", "functional_summary": "Loss of E2F7 causes aberrant acquisition of D synthesis in multiciliated cells and dysregulation of multiciliation cycle progression, which disrupts centriole maturation and ciliogenesis. We conclude that multiciliated cells use an alter tive cell cycle that orchestrates differentiation instead of controlling proliferation ( 38811726).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transcription regulation", "reference": "3.8811726E7", "complex_components": {}, "pfam_ids": "PF02319", "domain_descriptions": ["E2F/DP family", "winged-helix DNA-binding domain", "E2F Family", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000165891", "ortholog_mouse": "E2f7", "ortholog_c_elegans": "efl-3", "ortholog_xenopus": "e2f7", "ortholog_zebrafish": "e2f7", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.4501, "sd_percent_ciliated": 3.0208, "z_score": -1.6428 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.53, "sd_percent_ciliated": 1.53, "z_score": 1.53 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3944, "sd_percent_ciliated": -1.3944, "z_score": -1.3944 } ] }, { "gene": "EDC4", "ensembl_id": "ENSG00000038358", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "enhancer of mRNA decapping 4 [Source:HGNC Symbol,Acc:HGNC:17157]", "omim_id": "606030", "functional_summary": "CCHCR1 recruits P-body proteins to the centrosome through interacting with EDC4 via its N-terminal coiled-coil domain. Depletion of either CCHCR1 or P-body components EDC4 and DEAD-Box Helicase 6 (DDX6) impairs ciliogenesis(PMID: 40883668).", "localization": "Ciliary associated gene, Cytosol, Nucleus, P-body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "4.0883668E7", "complex_components": ["DCP1A", "DCP2", "DDX6", "EDC3", "EDC4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000038358", "synonym": "GE-1, HEDLS, RCD-8", "ortholog_mouse": "Edc4", "ortholog_c_elegans": "edc-4", "ortholog_xenopus": "edc4", "ortholog_zebrafish": "edc4", "ortholog_drosophila": "Ge-1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 18, "sd_percent_ciliated": 18, "z_score": 18, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -16.0812, "sd_percent_ciliated": -16.0812, "z_score": -16.0812, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EEF1A1", "ensembl_id": "ENSG00000156508", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation elongation factor 1 alpha 1 [Source:HGNC Symbol,Acc:HGNC:3189]", "omim_id": "130590", "functional_summary": "The EEF1a1 fragment (204/462 amino acids) was merely coprecipitated with BBS1, whereas the full-length protein did not visibly coelute with neither BBS protein ( 18000879).", "localization": "Ciliary associated gene, Cytosol, Nucleus, Ribosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions", "reference": "18000879 ,32127582", "complex_components": ["ABCF2", "CDC5L", "DDB1", "DDX23", "EEF1A1", "EEF1G", "EFTUD2", "HNRNPU", "HSPA5", "MATR3", "MSH2", "PFKL", "PRPF8", "SFPQ", "SNRNP200", "SNW1", "TUBB", "UBR5", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37A", "RPL39", "RPL4", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS2", "RPS23", "RPS24", "RPS29", "RPS3A", "RPS6", "RPS7", "RPS8", "RPS9", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1", "NR3C2"], "pfam_ids": ["PF03144", "PF00009", "PF22594"], "domain_descriptions": ["Translational (tr)-type GTP-binding domain", "Translation elongation factor EFTu-like", "domain 2", "Translation elongation factor EF1A", "eukaryotic/archaeal", "Translation protein", "beta-barrel domain superfamily", "P-loop containing nucleoside triphosphate hydrolase", "Tr-type G domain", "conserved site", "Translation factor GTPase superfamily members", "Translation elongation factor EF1A/initiation factor IF2gamma", "C-terminal", "GTP-eEF1A", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000156508", "synonym": "EE1A1, EEF1A, EF1A, EF1A1, EF1ALPHA1, LENG7", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Eef1a1", "ortholog_c_elegans": "eef-1A.1, eef-1A.2", "ortholog_xenopus": "eef1a1", "ortholog_zebrafish": "eef1a1a, eef1a1b", "ortholog_drosophila": "eEF1α1, eEF1α2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.7557, "z_score": 0.7084, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 54.3878, "z_score": 1.9844, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.8088 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 11.2, "z_score": 11.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 11.2 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.1472, "z_score": -12.1472, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -12.1472 } ] }, { "gene": "EEF1G", "ensembl_id": "ENSG00000254772", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation elongation factor 1 gamma [Source:HGNC Symbol,Acc:HGNC:3213]", "omim_id": "130593", "functional_summary": "Multiple components of translation machinery are present in the cilia of RG, including ribosome components, RPS23 and RPL19, and translation factors, EIF3C, EEF2 and EEF1G.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2025.05.03.652041", "complex_components": ["ABCF2", "CDC5L", "DDB1", "DDX23", "EEF1A1", "EEF1G", "EFTUD2", "HNRNPU", "HSPA5", "MATR3", "MSH2", "PFKL", "PRPF8", "SFPQ", "SNRNP200", "SNW1", "TUBB", "UBR5"], "pfam_ids": ["PF02798", "PF00647", "PF00043"], "domain_descriptions": ["Elongation factor 1B gamma", "C-terminal", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Elongation factor EF1B gamma", "C-terminal domain superfamily", "Glutathione transferase family", "Elongation Factors and Glutathione S-transferases"], "string_link": "https://string-db.org/network/9606/ENSG00000254772", "synonym": "EF1G", "ortholog_mouse": "Eef1g", "ortholog_c_elegans": "eef-1G", "ortholog_xenopus": "eef1g", "ortholog_zebrafish": "eef1g", "ortholog_drosophila": "eEF1γ", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49, "sd_percent_ciliated": 12.7279, "z_score": 1.3316 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.26, "sd_percent_ciliated": 8.26, "z_score": 8.26 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9142, "sd_percent_ciliated": -0.9142, "z_score": -0.9142 } ] }, { "gene": "EEF2", "ensembl_id": "ENSG00000167658", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation elongation factor 2 [Source:HGNC Symbol,Acc:HGNC:3214]", "omim_id": "130610", "functional_summary": "Multiple components of translation machinery are present in the cilia of RG, including ribosome components, RPS23 and RPL19, and translation factors, EIF3C, EEF2 and EEF0G.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions", "reference": "https://doi.org/10.1101/2025.05.03.652041 , 23001565", "complex_components": ["ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37A", "RPL39", "RPL4", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS2", "RPS23", "RPS24", "RPS29", "RPS3A", "RPS6", "RPS7", "RPS8", "RPS9", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1"], "pfam_ids": ["PF14492", "PF03144", "PF00679", "PF03764", "PF00009"], "domain_descriptions": ["Elongation factor EFG", "domain V-like", "Translational (tr)-type GTP-binding domain", "Translation elongation factor EFTu-like", "domain 2", "Small GTP-binding domain", "Translation elongation factor EFG/EF2", "domain IV", "Translation protein", "beta-barrel domain superfamily", "Small ribosomal subunit protein uS5 domain 2-type fold", "subgroup", "Ribosomal protein uS5 domain 2-type superfamily", "P-loop containing nucleoside triphosphate hydrolase", "Tr-type G domain", "conserved site", "EF-G domain III/V-like", "Elongation Factor G", "domain II"], "string_link": "https://string-db.org/network/9606/ENSG00000167658", "synonym": "EEF-2, EF2", "ortholog_mouse": "Eef2", "ortholog_c_elegans": "eef-2", "ortholog_xenopus": "eef2, eef2.2", "ortholog_zebrafish": "eef2a.1, eef2a.2, eef2b, eef2l2", "ortholog_drosophila": "eEF2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.8849, "sd_percent_ciliated": 6.8899, "z_score": -0.742 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 19.4, "sd_percent_ciliated": 19.4, "z_score": 19.4 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.8607, "sd_percent_ciliated": -10.8607, "z_score": -10.8607 } ] }, { "gene": "EFCAB10", "ensembl_id": "ENSG00000185055", "overexpression_effects": "Not Reported", "lof_effects": "Impaired ciliary motility", "percent_ciliated_cells_effects": "Not Reported", "description": "EF-hand calcium-binding domain protein 10", "functional_summary": "Here, we identify EF-hand calcium-binding domain protein 10 (EFCAB10) and adenylate kinase (AK8) as radial spoke proteins and describe their roles in mouse motile cilia. Using Efcab10-/- and Ak8-/- mice, we show that loss of either protein can affect ciliary motility and lead to PCD-related phenotypes in mice. Interestingly, ciliary AK8 is completely absent in Efcab10-/- cilia, but the loss of AK8 has no effect on ciliary EFCAB10. Further biochemical analyses reveal that EFCAB10 interacts with AK8 and RSPH3B, which fastens AK8 to the radial spoke. Overall, our findings demonstrate the essential role of EFCAB10 as a radial spoke protein in maintaining the integrity of the radial spoke and provide valuable insights into the molecular basis of related ciliopathies. (41055978); EF-hand calcium-binding domain protein 10 (EFCAB10) and adenylate kinase (AK8) identified as radial spoke proteins and describe their roles in mouse motile cilia. Using Efcab10-/- and Ak8-/- mice, we show that loss of either protein can affect ciliary motility and lead to PCD-related phenotypes in mice. Interestingly, ciliary AK8 is completely absent in Efcab10-/- cilia, but the loss of AK8 has no effect on ciliary EFCAB10. Further biochemical analyses reveal that EFCAB10 interacts with AK8 and RSPH3B, which fastens AK8 to the radial spoke. Overall,the essential role of EFCAB10 as a radial spoke protein demonstrated in maintaining the integrity of the radial spoke and provide valuable insights into the molecular basis of related ciliopathies. (41055978)", "localization": "cilia", "reference": "4.1055978E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000185055", "ortholog_mouse": "Efcab10", "ortholog_xenopus": "efcab10", "ortholog_zebrafish": "si:dkey-42p14.3", "screens": [] }, { "gene": "EFCAB2", "ensembl_id": "ENSG00000203666", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EF-hand calcium binding domain 2 [Source:HGNC Symbol,Acc:HGNC:28166]", "omim_id": "619617", "functional_summary": "EFCAB2 might be involved in the control of sperm flagellar movement. EFCAB2 was specifically localized to the principal piece of sperm flagellum (30933994).", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "30933994 ,30933994", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair"], "string_link": "https://string-db.org/network/9606/ENSG00000203666", "synonym": "CFAP200, DRC8, MGC12458", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Efcab2", "ortholog_xenopus": "efcab2", "ortholog_zebrafish": "drc8", "ortholog_drosophila": "CG11041, CG9406", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0569, "sd_percent_ciliated": 0.0569, "z_score": 0.0569, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5061, "sd_percent_ciliated": -1.5061, "z_score": -1.5061, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EFCAB6", "ensembl_id": "ENSG00000186976", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EF-hand calcium binding domain 6 [Source:HGNC Symbol,Acc:HGNC:24204]", "omim_id": "619664", "functional_summary": "Positive staining for motile ciliated cells was observed in the mouse brain, however, ISH staining of ependymal cells lining the choroid plexus in the chickens was only observed in the cases of EFCAB6, FAM183A and MYCBPAP (32616903).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.2616903E7", "complex_components": ["AR", "EFCAB6", "PARK7"], "pfam_ids": ["PF13833", "PF08976", "PF13499"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "DJBP", "EF-hand domain", "EF-Hand 1", "calcium-binding site", "EF-hand calcium-binding domain-containing protein 6"], "string_link": "https://string-db.org/network/9606/ENSG00000186976", "synonym": "DJ185D5.1, DJBP, FLJ23588, HSCBCIP1, KIAA1672", "ortholog_mouse": "Efcab6", "ortholog_xenopus": "efcab6", "ortholog_zebrafish": "efcab6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4489, "sd_percent_ciliated": -3.4489, "z_score": -3.4489, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EFCAB7", "ensembl_id": "ENSG00000203965", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "EF-hand calcium binding domain 7 [Source:HGNC Symbol,Acc:HGNC:29379]", "functional_summary": "Positive regulation of Hedgehog pathway. Adaptor to link the EVC-EVC2 complex to IQCE (24582806). We found a reduced proportion of ciliogenesis and shortened primary cilia of Efcab7mut/mut MEFs.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "30810526, 26783883, 12435737, https://doi.org/10.1016/j.jbc.2025.108249", "complex_components": {}, "pfam_ids": ["PF13499", "PF13833"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Mitochondrial Rho GTPase/EF-hand domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000203965", "synonym": "KIAA1799, RP4-534K7.1", "ortholog_mouse": "Efcab7", "ortholog_c_elegans": "T02G5.3", "ortholog_xenopus": "efcab7", "ortholog_zebrafish": "efcab7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 20.3, "sd_percent_ciliated": 20.3, "z_score": 20.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6678, "sd_percent_ciliated": -0.6678, "z_score": -0.6678, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EFHB", "ensembl_id": "ENSG00000163576", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EF-hand domain family member B [Source:HGNC Symbol,Acc:HGNC:26330]", "functional_summary": "EFHB has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "EF-hand domain-containing protein EFHC1/EFHC2/EFHB"], "string_link": "https://string-db.org/network/9606/ENSG00000163576", "synonym": "CFAP21, FLJ25200", "ortholog_mouse": "Efhb", "ortholog_xenopus": "efhb", "ortholog_zebrafish": "efhb", "ortholog_drosophila": "CG32086, CG33489, CG33490", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.19, "sd_percent_ciliated": 1.19, "z_score": 1.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5549, "sd_percent_ciliated": -1.5549, "z_score": -1.5549, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EFHC1", "ensembl_id": "ENSG00000096093", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EF-hand domain containing 1 [Source:HGNC Symbol,Acc:HGNC:16406]", "omim_id": "608815", "functional_summary": "Western blot a lyses and immunofluorescence localization of the mouse ortholog mRib72-1/Efhc1 indicated that it is indeed abundantly present in sperm flagella and tracheal cilia but only in a small amount in the brain. It is not present in immotile primary cilia (15670853).", "localization": "cilia ,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "15670853, 15258581 ,15258581", "complex_components": {}, "pfam_ids": "PF06565", "domain_descriptions": ["DM10 domain", "EF-hand domain-containing protein EFHC1/EFHC2/EFHB", "EF-hand domain", "EF-hand domain pair"], "string_link": "https://string-db.org/network/9606/ENSG00000096093", "synonym": "EJM, EJM1, FLJ10466, POC9, RIB72", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Efhc1", "ortholog_c_elegans": "efhc-1", "ortholog_xenopus": "efhc1", "ortholog_zebrafish": "efhc1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.4913, "sd_percent_ciliated": 2.3721, "z_score": -0.6685, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.32, "sd_percent_ciliated": 0.32, "z_score": 0.32, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "EFNB1", "ensembl_id": "ENSG00000090776", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ephrin B1 [Source:HGNC Symbol,Acc:HGNC:3226]", "omim_id": "300035", "functional_summary": "EFNB1, EFNB2, and EPHA4 proteins colocalize or partially colocalize with Arl13b (PMID: 40623838).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "4.0623838E7", "complex_components": ["EFNB1", "EPHA2", "TIAM1", "TUBB4B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000090776", "synonym": "CFNS, ELK-L, EPLG2, LERK2", "ortholog_mouse": "Efnb1", "ortholog_c_elegans": "efn-2, efn-3, efn-4, vab-2", "ortholog_xenopus": "efnb1", "ortholog_zebrafish": "efnb1", "ortholog_drosophila": "Ephrin", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.3631, "sd_percent_ciliated": 5.3454, "z_score": 0.6487 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.8, "sd_percent_ciliated": 3.8, "z_score": 3.8 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1147, "sd_percent_ciliated": -0.1147, "z_score": -0.1147 } ] }, { "gene": "EFNB2", "ensembl_id": "ENSG00000125266", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ephrin B2 [Source:HGNC Symbol,Acc:HGNC:3227]", "omim_id": "600527", "functional_summary": "EFNB1, EFNB2, and EPHA4 proteins colocalize or partially colocalize with Arl13b (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth", "reference": "4.0623838E7", "complex_components": ["DAB2", "EFNB2", "F2RL2", "GNAI1", "GNAI3", "KDR", "SDCBP"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000125266", "synonym": "EPLG5, HTK-L, HTKL, LERK5, MGC126226, MGC126227, MGC126228", "ortholog_mouse": "Efnb2", "ortholog_c_elegans": "efn-2, efn-3, efn-4, vab-2", "ortholog_xenopus": "efnb2", "ortholog_zebrafish": "efnb2a, efnb2b", "ortholog_drosophila": "Ephrin", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.9966, "z_score": 0.4714, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 45.1231, "z_score": 0.8619, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.5615 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.83, "z_score": 2.83, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.83 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.289, "z_score": -6.289, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.289 } ] }, { "gene": "EGF", "ensembl_id": "ENSG00000138798", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "epidermal growth factor [Source:HGNC Symbol,Acc:HGNC:3229]", "omim_id": "131530", "functional_summary": "Epidermal growth factor receptor (EGFR) ki se suppresses ciliogenesis by directly phosphorylating the deubiquiti se USP8 on Tyr-717 and Tyr-810 in RPE1 cells ( 29472535).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9472535E7", "complex_components": {}, "pfam_ids": ["PF00008", "PF07645", "PF00058", "PF14670"], "domain_descriptions": ["LDLR class B repeat", "EGF-type aspartate/asparagine hydroxylation site", "EGF-like domain", "EGF-like calcium-binding domain", "Growth factor receptor cysteine-rich domain superfamily", "Six-bladed beta-propeller", "TolB-like", "Pro-epidermal growth factor", "EGF-like calcium-binding", "conserved site", "NOTCH1 EGF-like calcium-binding domain", "Cueball/EGF/LRP/Nidogen"], "string_link": "https://string-db.org/network/9606/ENSG00000138798", "ortholog_mouse": "Egf", "ortholog_c_elegans": "rme-2", "ortholog_xenopus": "egf", "ortholog_zebrafish": "egf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.4936, "sd_percent_ciliated": 8.2515, "z_score": 0.4221 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.77, "sd_percent_ciliated": 1.77, "z_score": 1.77 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8839, "sd_percent_ciliated": -1.8839, "z_score": -1.8839 } ] }, { "gene": "EGFR", "ensembl_id": "ENSG00000146648", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "epidermal growth factor receptor [Source:HGNC Symbol,Acc:HGNC:3236]", "omim_id": "131550", "functional_summary": "Suppression of ciliogenesis by directly phosphorylating the deubiquiti se USP8, which stabilises the trichoplein-Aurora A pathway (29472535) and through the MEK and ERK pathway (31430961). Contributes to cell cycle progression through inhibition of ciliogenesis (29472535).", "localization": "basal body,cilia, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "26884322, 30683896, 25686250", "complex_components": ["EGFR", "SNX1", "ERBB2", "PIK3C2A", "PIK3C2B", "ITGAV", "ITGB3", "CBLB", "SH3KBP1", "CBL", "SH3GL2", "GRB2", "RIN1", "STAM2", "CDCP1", "SRC", "NHERF1", "PTEN", "ST3GAL6", "INPPL1", "SHC1", "ITGA5", "TM4SF5", "TNK2", "ERRFI1", "VAV2", "SNX2", "SNX4", "SLC5A1", "SSTR5", "SSTR1"], "pfam_ids": ["PF14843", "PF01030", "PF00757", "PF21314", "PF07714"], "domain_descriptions": ["Receptor L-domain", "Furin-like cysteine-rich domain", "Furin-like repeat", "Growth factor receptor cysteine-rich domain superfamily", "Growth factor receptor domain 4", "Receptor L-domain superfamily", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Tyrosine protein kinase", "EGF/ERB/XmrK receptor", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Epidermal growth factor receptor-like", "transmembrane-juxtamembrane segment", "Receptor Tyrosine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000146648", "synonym": "ERBB, ERBB1, ERRP", "ortholog_mouse": "Egfr", "ortholog_c_elegans": "let-23", "ortholog_xenopus": "egfr", "ortholog_zebrafish": "egfra, egfrb", "ortholog_drosophila": "Egfr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.8742, "sd_percent_ciliated": 6.5006, "z_score": 0.5894 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.9445, "sd_percent_ciliated": -1.9445, "z_score": -1.9445 } ] }, { "gene": "EHBP1L1", "ensembl_id": "ENSG00000173442", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "EH domain binding protein 1 like 1 [Source:HGNC Symbol,Acc:HGNC:30682]", "omim_id": "619583", "functional_summary": "EHBP1L1 and binding proteins CD2AP and CIN85 localize to the ciliary sheath membrane, which is a subdomain of the CV, and negatively regulate ciliary length. Depletion of EHBP1L1 and CD2P/CIN85 causes actin nucleation and branching defects around the basal body, suggesting that actin network formation is crucial for maintaining an appropriate length of primary cilia(36754282).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.6754282E7", "complex_components": {}, "pfam_ids": ["PF00307", "PF10358", "PF12130"], "domain_descriptions": ["Calponin homology domain", "NT-type C2 domain", "CH domain superfamily", "F-actin Monooxygenase Mical", "bMERB domain"], "string_link": "https://string-db.org/network/9606/ENSG00000173442", "synonym": "DKFZP762C186, TANGERIN", "ortholog_mouse": "Ehbp1l1", "ortholog_xenopus": "ehbp1l1", "ortholog_zebrafish": "ehbp1l1a, ehbp1l1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.61, "sd_percent_ciliated": 4.61, "z_score": 4.61, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6991, "sd_percent_ciliated": 0.6991, "z_score": 0.6991, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EHD1", "ensembl_id": "ENSG00000110047", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "EH domain containing 1 [Source:HGNC Symbol,Acc:HGNC:3242]", "omim_id": "605888", "functional_summary": "Requiered for ciliogenesis by regulating activation and repression of the Sonic hedgehog (SHH) sig lling pathway. Trafficking of SHH sig ling components to the primary cilia, its activations leads to entry of SMO into cilia (26884322). Role in ciliary vesicles assembly. Formation of membrane tubules that attach the intracellular developing cilium to the cell surface and create an extracellular membrane channel (EMC). Recruitment of PACSIN proteins to cellular membranes (30683896). Responsible for removal of the capping protein CP110 from the m- centriole to facilitate ciliary growth. Function in early ciliogenesis by causing mother centriole reorganisation. Regulation of membrane tubulation required for ciliary vesicle formation from smaller distal appendage vesicles. EHD1 and EHD3 bind to the Rab8 effector MICAL-L1 and affect membrane tubulo-vesicle formation and scission (25686250). The loss of EHD1 expression is associated with a dramatic decrease in cilia length.", "localization": "cilia,transition zone, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Transition zone, Cilia length regulation", "reference": "25686250, 26884322", "complex_components": {}, "pfam_ids": ["PF00350", "PF18150", "PF16880", "PF12763"], "domain_descriptions": ["EH domain", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "P-loop containing nucleoside triphosphate hydrolase", "Dynamin-type guanine nucleotide-binding (G) domain", "EH domain-containing protein", "N-terminal", "Domain of Not Reported function DUF5600", "Dynamin", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000110047", "synonym": "FLJ42622, FLJ44618, H-PAST, HPAST1, PAST1", "ortholog_mouse": "Ehd1", "ortholog_c_elegans": "rme-1", "ortholog_xenopus": "ehd1", "ortholog_zebrafish": "ehd1a, ehd1b", "ortholog_drosophila": "Past1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.2891, "sd_percent_ciliated": 9.3293, "z_score": -1.42 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.523, "sd_percent_ciliated": 0.523, "z_score": 0.523 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0623, "sd_percent_ciliated": 0.0623, "z_score": 0.0623 } ] }, { "gene": "EHD2", "ensembl_id": "ENSG00000024422", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EH domain containing 2 [Source:HGNC Symbol,Acc:HGNC:3243]", "omim_id": "605890", "functional_summary": "EHD2 has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF12763", "PF00350", "PF18150", "PF16880"], "domain_descriptions": ["EH domain", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "P-loop containing nucleoside triphosphate hydrolase", "Dynamin-type guanine nucleotide-binding (G) domain", "Domain of Not Reported function DUF5600", "Dynamin", "N-terminal", "EH domain-containing protein", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000024422", "synonym": "PAST2", "ortholog_mouse": "Ehd2", "ortholog_c_elegans": "rme-1", "ortholog_xenopus": "ehd2", "ortholog_zebrafish": "ehd2a, ehd2b", "ortholog_drosophila": "Past1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.9679, "sd_percent_ciliated": 0.1271, "z_score": -0.9743, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.46, "sd_percent_ciliated": 3.46, "z_score": 3.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.1639, "sd_percent_ciliated": 3.1639, "z_score": 3.1639, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EHD3", "ensembl_id": "ENSG00000013016", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EH domain containing 3 [Source:HGNC Symbol,Acc:HGNC:3244]", "omim_id": "605891", "functional_summary": "Function in early ciliogenesis by causing mother centriole reorganisation. Regulation of membrane tubulation required for ciliary vesicle formation from smaller distal appendage vesicles. EHD1 and EHD3 bind to the Rab8 effector MICAL-L1 and affect membrane tubulo-vesicle formation and scission (25686250).", "localization": "cilia,transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "29257953, 29733335, 15385169.", "complex_components": {}, "pfam_ids": ["PF12763", "PF00350", "PF16880", "PF18150"], "domain_descriptions": ["EH domain", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "P-loop containing nucleoside triphosphate hydrolase", "Dynamin-type guanine nucleotide-binding (G) domain", "EH domain-containing protein", "N-terminal", "Domain of Not Reported function DUF5600", "Dynamin", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000013016", "synonym": "PAST3", "ortholog_mouse": "Ehd3", "ortholog_c_elegans": "rme-1", "ortholog_xenopus": "ehd3", "ortholog_zebrafish": "ehd3", "ortholog_drosophila": "Past1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.1508, "z_score": 0.5195, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.3407, "z_score": 1.1306, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.3115 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0569, "z_score": 0.0569, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.0569 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.329, "z_score": -1.329, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.329 } ] }, { "gene": "EHD4", "ensembl_id": "ENSG00000103966", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EH domain containing 4 [Source:HGNC Symbol,Acc:HGNC:3245]", "omim_id": "605892", "functional_summary": "EHD4 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF12763", "PF00350", "PF18150", "PF16880"], "domain_descriptions": ["EH domain", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "P-loop containing nucleoside triphosphate hydrolase", "Dynamin-type guanine nucleotide-binding (G) domain", "EH domain-containing protein", "N-terminal", "Domain of Not Reported function DUF5600", "Dynamin", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000103966", "synonym": "PAST4", "ortholog_mouse": "Ehd4", "ortholog_c_elegans": "rme-1", "ortholog_xenopus": "ehd4", "ortholog_zebrafish": "ehd4", "ortholog_drosophila": "Past1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.473, "sd_percent_ciliated": 7.7994, "z_score": 1.5101 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.79, "sd_percent_ciliated": 1.79, "z_score": 1.79 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3729, "sd_percent_ciliated": 0.3729, "z_score": 0.3729 } ] }, { "gene": "EIF3C", "ensembl_id": "ENSG00000184110", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation initiation factor 3 subunit C [Source:HGNC Symbol,Acc:HGNC:3279]", "omim_id": "603916", "functional_summary": "EIF3C may regulate the local translation of Hh pathway components in the cilium, thereby modulating Hh sig ling on-site.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2025.05.03.652041", "complex_components": ["EIF3A", "EIF3B", "EIF3C", "EIF3D", "EIF3E", "EIF3F", "EIF3G", "EIF3H", "EIF3I", "EIF3J", "EIF3K", "EIF3L", "EIF3M"], "pfam_ids": ["PF05470", "PF01399"], "domain_descriptions": ["Proteasome component (PCI) domain", "Eukaryotic translation initiation factor 3 subunit C", "N-terminal domain", "Eukaryotic translation initiation factor 3 subunit C", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000184110", "synonym": "EIF3-P110, EIF3S8", "ortholog_mouse": "Eif3c", "ortholog_c_elegans": "eif-3.C", "ortholog_xenopus": "eif3c", "ortholog_zebrafish": "eif3c", "ortholog_drosophila": "eIF3c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.46, "sd_percent_ciliated": 4.46, "z_score": 4.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.456, "sd_percent_ciliated": -4.456, "z_score": -4.456, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EIF4A3", "ensembl_id": "ENSG00000291508", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation initiation factor 4A3 [Source:HGNC Symbol,Acc:HGNC:18683]", "omim_id": "608546", "functional_summary": "Exon junction complexes (EJCs) protein eIF4A3 and Y14 depletion impairs both centrosome organization and ciliogenesis(33649372)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3649372E7", "complex_components": ["CASC3", "EIF4A3", "MAGOH", "RBM8A", "UPF3B", "PYM1", "ALYREF", "NXF1", "RNPS1", "SRRM1", "UPF2", "DDX39B", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8", "CTIF", "EIF3B", "NCBP1", "NCBP2", "SMG1", "BCAS2", "BUD31", "CWC25", "PPIG", "YJU2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291508", "synonym": "DDX48, EIF4AIII, FAL1, KIAA0111", "ortholog_mouse": "Eif4a3, Eif4a3l1, Eif4a3l2", "ortholog_c_elegans": "eif-4A3, F33D11.10", "ortholog_xenopus": "eif4a3", "ortholog_zebrafish": "eif4a3", "ortholog_drosophila": "CG7483", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 14.9, "sd_percent_ciliated": 14.9, "z_score": 14.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -21.0928, "sd_percent_ciliated": -21.0928, "z_score": -21.0928, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EIF4E", "ensembl_id": "ENSG00000151247", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation initiation factor 4E [Source:HGNC Symbol,Acc:HGNC:3287]", "omim_id": "133440", "functional_summary": "Ependymal multicilia contain ribosomes, eIFs, and R (34848703).", "localization": "cilia, Cytosol, P-body", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Transcription regulation", "reference": "3.4848703E7", "complex_components": ["EIF4A1", "EIF4E", "EIF4G1", "MKNK1"], "pfam_ids": "PF01652", "domain_descriptions": ["Translation Initiation factor eIF- 4e", "Eukaryotic translation initiation factor 4E (eIF-4E)", "conserved site", "Translation Initiation factor eIF- 4e-like"], "string_link": "https://string-db.org/network/9606/ENSG00000151247", "synonym": "EIF4E1, EIF4EL1, EIF4F", "ortholog_mouse": "Eif4e", "ortholog_c_elegans": "ife-1, ife-2, ife-3, ife-5", "ortholog_xenopus": "eif4e", "ortholog_zebrafish": "eif4ea, eif4eb", "ortholog_drosophila": "eIF4E1, eIF4E3, eIF4E4, eIF4E5, eIF4E6, eIF4E7", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.0145, "z_score": 0.4769, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 52.995, "z_score": 1.8156, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.6748 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 17.8, "z_score": 17.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 17.8 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.2126, "z_score": -8.2126, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -8.2126 } ] }, { "gene": "EIF4G1", "ensembl_id": "ENSG00000114867", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation initiation factor 4 gamma 1 [Source:HGNC Symbol,Acc:HGNC:3296]", "omim_id": "600495", "functional_summary": "Eif3m and Eif4g were distributed as puncta close to axonemal outer MT doublets . Ependymal multicilia contain ribosomes, eIFs, and R (34848703).", "localization": "cilia, Cytosol, Microtubules, Ribosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4848703E7", "complex_components": ["", "EIF4G1", "HNRNPD", "HSPA8", "PABPC1", "EIF4A1", "EIF4E", "MKNK1"], "pfam_ids": ["PF02020", "PF02854", "PF02847"], "domain_descriptions": ["W2 domain", "MIF4G-like", "type 3", "Initiation factor eIF-4 gamma", "MA3", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000114867", "synonym": "EIF4F, EIF4G, P220, PARK18", "ortholog_mouse": "Eif4g1", "ortholog_c_elegans": "ifg-1", "ortholog_xenopus": "eif4g1", "ortholog_zebrafish": "eif4g1a, eif4g1b, wu:fb16f03", "ortholog_drosophila": "eIF4G1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2138, "z_score": 0.5392, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.2172, "z_score": 2.0848, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 10.0978 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.9, "z_score": 2.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.9 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2506, "z_score": -1.2506, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.2506 } ] }, { "gene": "EIF5", "ensembl_id": "ENSG00000100664", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eukaryotic translation initiation factor 5 [Source:HGNC Symbol,Acc:HGNC:3299]", "omim_id": "601710", "functional_summary": "EIF5 has localized in cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000100664", "ortholog_mouse": "Eif5", "ortholog_c_elegans": "C37C3.2", "ortholog_xenopus": "eif5", "ortholog_zebrafish": "eif5", "ortholog_drosophila": "eIF5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.9724, "sd_percent_ciliated": 0.6548, "z_score": 0.4802 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.21, "sd_percent_ciliated": 5.21, "z_score": 5.21 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.3402, "sd_percent_ciliated": -4.3402, "z_score": -4.3402 } ] }, { "gene": "ELMO1", "ensembl_id": "ENSG00000155849", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "engulfment and cell motility 1 [Source:HGNC Symbol,Acc:HGNC:16286]", "omim_id": "606420", "functional_summary": "Ezrin, ELMO-DOCK1 and its downstream effector Rac1 cooperate and function as a module during the highly coordi ted processes of ciliary basal body targeting and docking to the apical membrane. Co-immunostainings with Cep164 confirmed that DOCK1 localised to both mother and daughter centrioles.(25516973). loss of WDR-31 together with RP-2 and ELMD-1 (the sole ortholog ELMOD1-3) results in ciliary accumulations of IFT Complex B components and KIF17 kinesin, with fewer IFT/BBSome particles traveling along cilia in both anterograde and retrograde directions, suggesting that the IFT/BBSome entry into the cilia and exit from the cilia are impacted , WDR31-RP-2-ELMD-1 as IFT and BBSome trafficking regulators(37208194).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25516973 , 37208194", "complex_components": ["DOCK1", "ELMO1", "DOCK2", "RAC1", "CRK"], "pfam_ids": ["PF16457", "PF11841", "PF04727"], "domain_descriptions": ["Pleckstrin homology domain", "PH-like domain superfamily", "ELMO domain", "Armadillo-like helical", "Armadillo-type fold", "ELMO", "armadillo-like helical domain", "Engulfment and cell motility domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000155849", "synonym": "CED-12, CED12, ELMO-1, KIAA0281", "ortholog_mouse": "Elmo1", "ortholog_c_elegans": "ced-12", "ortholog_xenopus": "elmo1", "ortholog_zebrafish": "elmo1", "ortholog_drosophila": "Ced-12", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.107, "sd_percent_ciliated": 2.4693, "z_score": -0.7151, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.15, "sd_percent_ciliated": 4.15, "z_score": 4.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4311, "sd_percent_ciliated": -1.4311, "z_score": -1.4311, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ELOVL4", "ensembl_id": "ENSG00000118402", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ELOVL fatty acid elongase 4 [Source:HGNC Symbol,Acc:HGNC:14415]", "omim_id": "605512", "functional_summary": "Mutations in the ELOVL4 gene cause Spinocerebellar Ataxia (PMID: 26010696).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6010696E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000118402", "synonym": "CT118, SCA34, STGD2, STGD3", "ortholog_mouse": "Elovl4", "ortholog_xenopus": "elovl4", "ortholog_zebrafish": "elovl4a, elovl4b", "ortholog_drosophila": "Elo68α, Elo68β", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.0018, "z_score": 0.7852, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 59.5655, "z_score": 2.6117, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.2965 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.82, "z_score": 1.82, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.82 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.1871, "z_score": -6.1871, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.1871 } ] }, { "gene": "ELOVL5", "ensembl_id": "ENSG00000012660", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ELOVL fatty acid elongase 5 [Source:HGNC Symbol,Acc:HGNC:21308]", "omim_id": "611805", "functional_summary": "Mutations in the ELOVL5 gene cause Spinocerebellar Ataxia (PMID: 25065913).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5065913E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000012660", "synonym": "DJ483K16.1, HELO1, SCA38", "ortholog_mouse": "Elovl5", "ortholog_xenopus": "elovl5", "ortholog_zebrafish": "elovl5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.6924, "sd_percent_ciliated": 0.1275, "z_score": 0.8097 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.52, "sd_percent_ciliated": 5.52, "z_score": 5.52 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.4549, "sd_percent_ciliated": -5.4549, "z_score": -5.4549 } ] }, { "gene": "ELP1", "ensembl_id": "ENSG00000070061", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "elongator acetyltransferase complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:5959]", "omim_id": "603722", "functional_summary": "Mutations in the ELP1 gene cause Medulloblastoma (PMID: 32296180).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "32296180 ,32296180", "complex_components": ["ELP1", "ELP2", "ELP3", "ELP4", "CHUK", "IKBKB", "MAP3K14", "NFKBIA", "RELA", "ELP5", "ELP6"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000070061", "synonym": "DYS, IKAP, IKBKAP, IKI3, TOT1", "ciliopathy": "Medulloblastoma", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Elp1", "ortholog_c_elegans": "elpc-1", "ortholog_xenopus": "elp1", "ortholog_zebrafish": "elp1", "ortholog_drosophila": "Elp1", "screens": {} }, { "gene": "EMC6", "ensembl_id": "ENSG00000127774", "overexpression_effects": "not reported", "lof_effects": "shorter cilia", "percent_ciliated_cells_effects": "decreased cilia number", "description": "ER membrane protein complex subunit 6 [Source:HGNC Symbol,Acc:HGNC:28430]", "omim_id": "620261", "functional_summary": "In addition to monitoring the synthesis of rhodopsin-domi ted membrane disc proteins, EMC6 also impacted rod photoreceptors' ciliogenesis by regulating the synthesis of membrane proteins associated with cilia, contributing to the mislocalization of membrane disc proteins (37692493). EMC6 localized to basal body (25613900). Cilia length of RKO mice became significantly shorter compared with WT mice.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "37692493 , 25613900, 37692493", "complex_components": ["EMC1", "EMC10", "EMC2", "EMC3", "EMC4", "EMC6", "EMC7", "EMC8", "MMGT1", "EMC9"], "pfam_ids": "PF07019", "domain_descriptions": ["ER membrane protein complex subunit 6", "ER membrane protein complex subunit 6-like"], "string_link": "https://string-db.org/network/9606/ENSG00000127774", "synonym": "MGC2963, RAB5IFL, TMEM93", "ortholog_mouse": "Emc6", "ortholog_c_elegans": "emc-6", "ortholog_xenopus": "emc6", "ortholog_zebrafish": "emc6", "ortholog_drosophila": "EMC6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.62, "sd_percent_ciliated": 2.62, "z_score": 2.62, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "EML4", "ensembl_id": "ENSG00000143924", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EMAP like 4 [Source:HGNC Symbol,Acc:HGNC:1316]", "omim_id": "607442", "functional_summary": "EML4 has localized in basal body.", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF23409", "PF03451", "PF23414", "PF00400"], "domain_descriptions": ["WD40 repeat", "HELP motif", "Quinoprotein alcohol dehydrogenase-like superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat Echinoderm Microtubule-associated Protein-like", "Echinoderm microtubule-associated protein-like", "first beta-propeller domain", "EML-like", "second beta-propeller domain"], "string_link": "https://string-db.org/network/9606/ENSG00000143924", "synonym": "C2ORF2, ELP120, ROPP120", "ortholog_mouse": "Eml4", "ortholog_c_elegans": "elp-1", "ortholog_xenopus": "eml4", "ortholog_drosophila": "DCX-EMAP", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.8057, "sd_percent_ciliated": 3.7437, "z_score": 0.2176, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.114, "sd_percent_ciliated": 0.114, "z_score": 0.114, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.7241, "sd_percent_ciliated": 0.7241, "z_score": 0.7241, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EML6", "ensembl_id": "ENSG00000214595", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EMAP like 6 [Source:HGNC Symbol,Acc:HGNC:35412]", "omim_id": "621084", "functional_summary": "EML6 and CENPF link microtubule and primary cilia-related functions to keratoconus ( 33729517).", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.3729517E7", "complex_components": {}, "pfam_ids": ["PF03451", "PF23414", "PF23409"], "domain_descriptions": ["WD40 repeat", "HELP motif", "Quinoprotein alcohol dehydrogenase-like superfamily", "Cytochrome cd1-nitrite reductase-like", "haem d1 domain superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat Echinoderm Microtubule-associated Protein-like", "Echinoderm microtubule-associated protein-like", "first beta-propeller domain", "EML-like", "second beta-propeller domain"], "string_link": "https://string-db.org/network/9606/ENSG00000214595", "synonym": "FLJ42562", "ortholog_mouse": "Eml6", "ortholog_xenopus": "eml6", "ortholog_zebrafish": "eml6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.3782, "sd_percent_ciliated": 1.3782, "z_score": 1.3782, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ENKD1", "ensembl_id": "ENSG00000124074", "overexpression_effects": "Not Reported; not reported", "lof_effects": "No effect; shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers; no effect", "description": "enkurin domain containing 1 [Source:HGNC Symbol;Acc:HGNC:25246]; enkurin domain containing 1 [Source:HGNC Symbol,Acc:HGNC:25246]", "functional_summary": "ENKD1 is a centrosomal protein and initiates mother centriole uncapping through competing with CEP97 in binding to CP110. Loss of ENKD1 in mice causes multi‐organ developmental abnormalities due to ciliogenesis defects. Depletion of ENKD1 in mice impairs the formation of both primary and motile cilia in multiple organs. ENKD1 localizes to the centrosome and interacts with CP110 directly to license mother centriole uncapping. Depletion of ENKD1 enhances the CP110‐CEP97 interaction and inhibits CP110 removal from the mother centriole(PMID: 35301795).; ENKD1 has localized in ciliary tip, basal body, transition zone. The cilia that formed in ENKD1-depleted cells were slightly shorter as compared to control cells", "localization": "basal body; cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "35301795; https://doi.org/10.1101/2024.10.20.619273, doi:10.1111/febs.16367", "complex_components": {}, "pfam_ids": "PF13864", "domain_descriptions": ["Enkurin domain", "Enkurin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000124074", "synonym": "C16ORF48; DKFZP434A1319; FBB11; C16ORF48, DKFZP434A1319, FBB11", "ortholog_mouse": "Enkd1", "ortholog_xenopus": "enkd1", "ortholog_zebrafish": "enkd1", "ortholog_drosophila": "CG11125", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.28, "sd_percent_ciliated": 1.28, "z_score": 1.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ENKUR", "ensembl_id": "ENSG00000151023", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "enkurin, TRPC channel interacting protein [Source:HGNC Symbol,Acc:HGNC:28388]", "omim_id": "611025", "functional_summary": "Required for patterning the left/right axis in vertebrates. Mutations in humans cause situs inversus (29257953). Potential role as a Ca2+ sensor that participates in the regulation of mammalian flagellar bending (29733335, 15385169).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.7767179E7", "complex_components": {}, "pfam_ids": "PF13864", "domain_descriptions": ["Enkurin domain", "Enkurin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000151023", "synonym": "C10ORF63, CFAP106, ENKURIN, MGC26778", "ortholog_mouse": "Enkur", "ortholog_xenopus": "enkur", "ortholog_zebrafish": "enkur", "ortholog_drosophila": "CG16984", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1111, "sd_percent_ciliated": -0.1111, "z_score": -0.1111, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ENPP1", "ensembl_id": "ENSG00000197594", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ectonucleotide pyrophosphatase/phosphodiesterase 1 [Source:HGNC Symbol,Acc:HGNC:3356]", "omim_id": "173335", "functional_summary": "Ciliary EVs carry nucleic acid-binding SID-2 and MCM-3 and phosphodiesterase ENPP-1. The male vas deferens transfers ENPP-1 to the hermaphrodite uterus during mating (35334227).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.5334227E7", "complex_components": {}, "pfam_ids": ["PF01663", "PF01033", "PF01223"], "domain_descriptions": ["Somatomedin B domain", "DNA/RNA non-specific endonuclease/pyrophosphatase/phosphodiesterase domain", "Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase", "Alkaline-phosphatase-like", "core domain superfamily", "Somatomedin B domain", "chordata", "ENPP1-3/EXOG-like", "endonuclease/phosphodiesterase domain", "Somatomedin B-like domain superfamily", "His-Me finger superfamily", "DNA/RNA non-specific endonuclease superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000197594", "synonym": "M6S1, NPPS, PC-1, PCA1, PDNP1", "ortholog_mouse": "Enpp1", "ortholog_c_elegans": "C27A7.3, enpp-1", "ortholog_xenopus": "enpp1", "ortholog_zebrafish": "enpp1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.2285, "z_score": 0.2315, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.2375, "z_score": 1.6027, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.8631 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6274, "z_score": -0.6274, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.6274 } ] }, { "gene": "ENSG00000111780", "ensembl_id": "ENSG00000111780", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000111780 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF02686", "domain_descriptions": ["Glu-tRNAGln amidotransferase C subunit", "Glu-tRNAGln amidotransferase superfamily", "subunit C", "Cytochrome c oxidase", "subunit VIa superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111780", "screens": {} }, { "gene": "ENSG00000198211", "ensembl_id": "ENSG00000198211", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein (MC1R-TUBB3 readthrough)", "functional_summary": "ENSG00000198211 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF03953", "PF00001", "PF00091"], "domain_descriptions": ["Tubulin", "G protein-coupled receptor", "rhodopsin-like", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "GPCR", "rhodopsin-like", "7TM", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000198211", "screens": {} }, { "gene": "ENSG00000251569", "ensembl_id": "ENSG00000251569", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000251569 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF07289", "PF24681"], "domain_descriptions": ["BBSome complex member BBS5", "Kelch repeat type 1", "PH-like domain superfamily", "BBSome complex member BBS5", "PH domain", "Kelch-type beta propeller"], "string_link": "https://string-db.org/network/9606/ENSG00000251569", "screens": {} }, { "gene": "ENSG00000265118", "ensembl_id": "ENSG00000265118", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000265118 has localized in transition zone.", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF05399", "domain_descriptions": "Ectropic viral integration site 2A protein", "string_link": "https://string-db.org/network/9606/ENSG00000265118", "screens": {} }, { "gene": "ENSG00000267740", "ensembl_id": "ENSG00000267740", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000267740 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "NA", "domain_descriptions": "NA", "string_link": "https://string-db.org/network/9606/ENSG00000267740", "screens": {} }, { "gene": "ENSG00000271254", "ensembl_id": "ENSG00000271254", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000271254 has localized in cilia,flagella.", "localization": "cilia,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000271254", "screens": {} }, { "gene": "ENSG00000272772", "ensembl_id": "ENSG00000272772", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000272772 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "NA", "domain_descriptions": "NA", "string_link": "https://string-db.org/network/9606/ENSG00000272772", "screens": {} }, { "gene": "ENSG00000272980", "ensembl_id": "ENSG00000272980", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000272980 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF09398", "domain_descriptions": ["LIS1 homology motif", "FGFR1 oncogene partner (FOP)", "N-terminal dimerisation domain"], "string_link": "https://string-db.org/network/9606/ENSG00000272980", "screens": {} }, { "gene": "ENSG00000280571", "ensembl_id": "ENSG00000280571", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000280571 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "NA", "domain_descriptions": "NA", "string_link": "https://string-db.org/network/9606/ENSG00000280571", "screens": {} }, { "gene": "ENSG00000282218", "ensembl_id": "ENSG00000282218", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein, GOPC-ROS1 readthrough", "functional_summary": "ENSG00000282218 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00595", "PF07714"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "PDZ domain", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "PDZ superfamily", "Golgi-associated PDZ and coiled-coil motif-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000282218", "screens": {} }, { "gene": "ENSG00000285827", "ensembl_id": "ENSG00000285827", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein", "functional_summary": "ENSG00000285827 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF04718", "PF02008"], "domain_descriptions": ["ATP synthase", "F0 complex", "subunit G", "mitochondrial", "Zinc finger", "CXXC-type"], "string_link": "https://string-db.org/network/9606/ENSG00000285827", "screens": {} }, { "gene": "ENSG00000285880", "ensembl_id": "ENSG00000285880", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ADRB3-GOT1L1 readthrough", "functional_summary": "ENSG00000285880 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Beta 3 adrenoceptor", "Pyridoxal phosphate-dependent transferase", "small domain", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000285880", "screens": {} }, { "gene": "ENSG00000286185", "ensembl_id": "ENSG00000286185", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "novel protein, identical to neuroblastoma breakpoint family, member 19 NBPF19", "functional_summary": "ENSG00000286185 has localized in cilia,flagella.", "localization": "cilia,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000286185", "screens": {} }, { "gene": "ENTR1", "ensembl_id": "ENSG00000165689", "overexpression_effects": "Unknown; Not Reported", "lof_effects": "Shorter cilia; Not Reported", "percent_ciliated_cells_effects": "Reduced cilia numbers; Not Reported", "description": "endosome associated trafficking regulator 1 [Source:HGNC Symbol,Acc:HGNC:10667]; endosome associated trafficking regulator 1 [Source:HGNC Symbol;Acc:HGNC:10667]", "omim_id": "618289", "functional_summary": "Interacts with the intraflagellar transport protein 88 (IFT88), involved in ciliogenesis and intraciliary transport. Required for ciliary localization of Polycystin-2, mediating the transport of Polycystin-2 from the ciliary base into the cilium (27767179).; Reduction in ciliary length upon SDCCAG3 knockdown is observed. To rescue this phenotype,IMCD3 cells are transfected . SDCCAG3 localizes to the cilia basal body(27767179).", "localization": "basal body, cilia; basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "17660199, 23026747, 22986504, 21356043; 27767179", "complex_components": ["ENTR1", "GIT1", "PTPN13"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000165689", "synonym": "NY-CO-3, SDCCAG3", "ortholog_mouse": "Entr1", "ortholog_xenopus": "entr1", "ortholog_zebrafish": "entr1", "screens": {} }, { "gene": "EPAS1", "ensembl_id": "ENSG00000116016", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "endothelial PAS domain protein 1 [Source:HGNC Symbol,Acc:HGNC:3374]", "omim_id": "603349", "functional_summary": "Interestingly, alteration in HIF expression by hypoxia or pharmacological mimics has also been shown to influence primary cilia length [21241248 , 22084569] and activate the hedgehog pathway [35]. Prolyl hydroxylase inhibition results in ciliary elongation and a more pronounced recruitment of HIF-2α to the ciliary base and sequestration to the ciliary axonome. Elongation drives ciliary sequestration leading to negative regulation of HIF-2α expression and activity. HIFs have relationship with the primary cilium in inflammation(18774959).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Muscle contraction & physiology, Transcription regulation, Cilia length regulation", "reference": "21241248 , 22084569 , 18774959", "complex_components": ["ARNT", "EPAS1", "IKBKG", "BMAL1", "EGLN1", "VHL"], "pfam_ids": ["PF23171", "PF00989", "PF11413", "PF08778", "PF14598", "PF08447"], "domain_descriptions": ["PAS domain", "Nuclear translocator", "Myc-type", "basic helix-loop-helix (bHLH) domain", "PAS fold", "PAS domain superfamily", "Helix-loop-helix DNA-binding domain superfamily", "PAC motif", "HIF-1 alpha", "C-terminal transactivation domain", "Hypoxia-inducible factor", "alpha subunit-like", "PAS fold-3"], "string_link": "https://string-db.org/network/9606/ENSG00000116016", "synonym": "BHLHE73, HIF2A, HLF, MOP2, PASD2", "ortholog_mouse": "Epas1, Hlf", "ortholog_c_elegans": "atf-8, ces-2, hif-1", "ortholog_xenopus": "epas1, hlf", "ortholog_zebrafish": "epas1a, epas1b, hlfa, hlfb", "ortholog_drosophila": "CG7786, Pdp1, sima", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.6691, "sd_percent_ciliated": 9.8156, "z_score": -1.1316, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2132, "sd_percent_ciliated": -2.2132, "z_score": -2.2132, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EPB41L2", "ensembl_id": "ENSG00000079819", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "erythrocyte membrane protein band 4.1 like 2 [Source:HGNC Symbol,Acc:HGNC:3379]", "omim_id": "603237", "functional_summary": "EPB41L2, erythrocyte membrane protein band 4.1 like 2, localised to cilia(36776558) .", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.6776558E7", "complex_components": {}, "pfam_ids": ["PF05902", "PF00373", "PF09380", "PF08736", "PF09379", "PF04382"], "domain_descriptions": ["Band 4.1", "C-terminal", "FERM domain", "Ezrin/radixin/moesin-like", "PH-like domain superfamily", "FERM/acyl-CoA-binding protein superfamily", "FERM adjacent", "FERM", "N-terminal", "FERM", "C-terminal PH-like domain", "FERM conserved site", "FERM central domain", "Band 4.1 domain", "Ubiquitin-like domain superfamily", "FERM superfamily", "second domain", "SAB domain"], "string_link": "https://string-db.org/network/9606/ENSG00000079819", "synonym": "4.1-G, 4.1G", "ortholog_mouse": "Epb41l2", "ortholog_xenopus": "epb41l2", "ortholog_drosophila": "cora", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4419, "sd_percent_ciliated": 9.1854, "z_score": -0.9168 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.105, "sd_percent_ciliated": 0.105, "z_score": 0.105 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.3015, "sd_percent_ciliated": 1.3015, "z_score": 1.3015 } ] }, { "gene": "EPB41L3", "ensembl_id": "ENSG00000082397", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "erythrocyte membrane protein band 4.1 like 3 [Source:HGNC Symbol,Acc:HGNC:3380]", "omim_id": "605331", "functional_summary": "EPB41L3 has localized in basal body.", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CADM1", "EPB41L3", "MPP3"], "pfam_ids": ["PF09380", "PF05902", "PF09379", "PF04382", "PF00373", "PF08736"], "domain_descriptions": ["FERM domain", "Ezrin/radixin/moesin-like", "SAB domain", "Band 4.1", "C-terminal", "PH-like domain superfamily", "FERM/acyl-CoA-binding protein superfamily", "FERM adjacent", "FERM", "N-terminal", "FERM", "C-terminal PH-like domain", "FERM conserved site", "FERM central domain", "Band 4.1 domain", "Ubiquitin-like domain superfamily", "Band 4.1-like protein 3", "FERM domain", "F1 sub-domain", "FERM superfamily", "second domain"], "string_link": "https://string-db.org/network/9606/ENSG00000082397", "synonym": "4.1B, DAL1, KIAA0987", "ortholog_mouse": "Epb41l3", "ortholog_c_elegans": "frm-1", "ortholog_xenopus": "epb41l3", "ortholog_zebrafish": "epb41l3a, epb41l3b", "ortholog_drosophila": "cora", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.8757, "sd_percent_ciliated": 2.8955, "z_score": -0.3797 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.04, "sd_percent_ciliated": 1.04, "z_score": 1.04 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2594, "sd_percent_ciliated": -1.2594, "z_score": -1.2594 } ] }, { "gene": "EPCIP", "ensembl_id": "ENSG00000205929", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "exosomal polycystin 1 interacting protein [Source:HGNC Symbol,Acc:HGNC:1305]", "functional_summary": "Asmall sig l peptide-bearing protein CU062 (a product of the C21orf62 gene, DUF4571) is present in the kidney and in urine exosome-like vesicles and localizes with PC1 on the primary cilia (37681898).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.7681898E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000205929", "synonym": "B37, C21ORF120, C21ORF62, CU062, PRED81", "ortholog_mouse": "Epcip", "ortholog_xenopus": "epcip", "screens": {} }, { "gene": "EPHA2", "ensembl_id": "ENSG00000142627", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EPH receptor A2 [Source:HGNC Symbol,Acc:HGNC:3386]", "omim_id": "176946", "functional_summary": "EphA2 showed stronger staining on the apical membrane of both the ciliated cells and the secretory cells as well as the cilia (30176889).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0176889E7", "complex_components": ["EFNB1", "EPHA2", "TIAM1"], "pfam_ids": ["PF14575", "PF00041", "PF07714", "PF00536", "PF01404"], "domain_descriptions": ["Protein kinase domain", "Ephrin receptor ligand binding domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class V", "conserved site", "Sterile alpha motif domain", "Fibronectin type III", "Tyrosine-protein kinase", "active site", "Galactose-binding-like domain superfamily", "Growth factor receptor cysteine-rich domain superfamily", "Protein kinase-like domain superfamily", "Sterile alpha motif/pointed domain superfamily", "Immunoglobulin-like fold", "Ephrin receptor type-A /type-B", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Ephrin receptor", "transmembrane domain", "Ephrin type-A receptor 2", "ligand binding domain", "Fibronectin type III superfamily", "Ephrin receptor tyrosine kinases"], "string_link": "https://string-db.org/network/9606/ENSG00000142627", "synonym": "ECK", "ortholog_mouse": "Epha2", "ortholog_c_elegans": "vab-1", "ortholog_xenopus": "epha2", "ortholog_zebrafish": "epha2a, epha2b", "ortholog_drosophila": "Eph", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.5975, "z_score": 0.659, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.1859, "z_score": 2.4445, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.0057 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.736, "z_score": -2.736, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.736 } ] }, { "gene": "EPHA4", "ensembl_id": "ENSG00000116106", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EPH receptor A4 [Source:HGNC Symbol,Acc:HGNC:3388]", "omim_id": "602188", "functional_summary": "EFNB1, EFNB2, and EPHA4 proteins colocalize or partially colocalize with Arl13b (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "4.0623838E7", "complex_components": ["EPHA4", "GHR", "Jak2", "STAT5B"], "pfam_ids": ["PF07714", "PF07699", "PF14575", "PF07647", "PF00041", "PF01404"], "domain_descriptions": ["Protein kinase domain", "Ephrin receptor ligand binding domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class V", "conserved site", "Sterile alpha motif domain", "Fibronectin type III", "Tyrosine-protein kinase", "active site", "Galactose-binding-like domain superfamily", "Protein kinase-like domain superfamily", "Tyrosine-protein kinase ephrin type A/B receptor-like", "Sterile alpha motif/pointed domain superfamily", "Immunoglobulin-like fold", "Ephrin receptor type-A /type-B", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Ephrin receptor", "transmembrane domain", "Ephrin type-A receptor 4", "SAM domain", "Ephrin type-A receptor 4", "ligand binding domain", "Fibronectin type III superfamily", "Ephrin receptor tyrosine kinases"], "string_link": "https://string-db.org/network/9606/ENSG00000116106", "synonym": "HEK8, TYRO1", "ortholog_mouse": "Epha4", "ortholog_c_elegans": "vab-1", "ortholog_xenopus": "epha4", "ortholog_zebrafish": "epha4a", "ortholog_drosophila": "Eph", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.2706, "sd_percent_ciliated": 3.2112, "z_score": 1.1221, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1097, "sd_percent_ciliated": -2.1097, "z_score": -2.1097, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EPHA6", "ensembl_id": "ENSG00000080224", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EPH receptor A6 [Source:HGNC Symbol,Acc:HGNC:19296]", "omim_id": "600066", "functional_summary": "EPHA6 has localized in flagella.", "localization": "flagella, Nucleus, Lysosomes", "functional_category": "Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF01404", "PF07699", "PF00041", "PF14575", "PF00536", "PF07714"], "domain_descriptions": ["Ephrin receptor ligand binding domain", "Tyrosine-protein kinase", "receptor class V", "conserved site", "Fibronectin type III", "Galactose-binding-like domain superfamily", "Growth factor receptor cysteine-rich domain superfamily", "Tyrosine-protein kinase ephrin type A/B receptor-like", "Immunoglobulin-like fold", "Ephrin type-A receptor 6", "ligand binding domain", "Fibronectin type III superfamily", "Ephrin receptor tyrosine kinases", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Sterile alpha motif domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Sterile alpha motif/pointed domain superfamily", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Ephrin receptor", "transmembrane domain", "EPH-A6 ", "SAM domain"], "string_link": "https://string-db.org/network/9606/ENSG00000080224", "synonym": "FLJ35246", "ortholog_mouse": "Epha6", "ortholog_c_elegans": "vab-1", "ortholog_xenopus": "epha6", "ortholog_zebrafish": "epha6", "ortholog_drosophila": "Eph", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.7985, "sd_percent_ciliated": 17.6998, "z_score": 0.3379, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.074, "sd_percent_ciliated": 0.074, "z_score": 0.074, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9787, "sd_percent_ciliated": -1.9787, "z_score": -1.9787, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EPHB2", "ensembl_id": "ENSG00000133216", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EPH receptor B2 [Source:HGNC Symbol,Acc:HGNC:3393]", "omim_id": "600997", "functional_summary": "Most neuronal cilia were enriched with EphA4, Efnb1, and Efnb2, with a lesser extent for Ephb2(PMID: 40623838).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "4.0623838E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000133216", "synonym": "DRT, EPHT3, ERK, HEK5, TYRO5", "ortholog_mouse": "Ephb2", "ortholog_c_elegans": "vab-1", "ortholog_zebrafish": "ephb2a, ephb2b", "ortholog_drosophila": "Eph", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.3368, "sd_percent_ciliated": 4.2236, "z_score": -1.4142 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6695, "sd_percent_ciliated": -0.6695, "z_score": -0.6695 } ] }, { "gene": "EPHB3", "ensembl_id": "ENSG00000182580", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EPH receptor B3 [Source:HGNC Symbol,Acc:HGNC:3394]", "omim_id": "601839", "functional_summary": "EFNB1, EFNB2, and EPHA4 proteins colocalize or partially colocalize with Arl13b (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "4.0623838E7", "complex_components": {}, "pfam_ids": ["PF00536", "PF01404", "PF00041", "PF07714", "PF07699", "PF14575", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Ephrin receptor ligand binding domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class V", "conserved site", "Sterile alpha motif domain", "Fibronectin type III", "Tyrosine-protein kinase", "active site", "Galactose-binding-like domain superfamily", "Protein kinase-like domain superfamily", "Tyrosine-protein kinase ephrin type A/B receptor-like", "Sterile alpha motif/pointed domain superfamily", "Immunoglobulin-like fold", "Ephrin receptor type-A /type-B", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Ephrin receptor", "transmembrane domain", "Ephrin type-B receptor 3", "ligand binding domain", "Fibronectin type III superfamily", "Ephrin receptor tyrosine kinases"], "string_link": "https://string-db.org/network/9606/ENSG00000182580", "synonym": "ETK2, HEK2, TYRO6", "ortholog_mouse": "Ephb3", "ortholog_c_elegans": "vab-1", "ortholog_xenopus": "ephb3", "ortholog_zebrafish": "ephb3a, ephb3b", "ortholog_drosophila": "Eph", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.619, "sd_percent_ciliated": 6.4172, "z_score": -0.4108 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2, "sd_percent_ciliated": 2, "z_score": 2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.2448, "sd_percent_ciliated": -2.2448, "z_score": -2.2448 } ] }, { "gene": "EPRS1", "ensembl_id": "ENSG00000136628", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutamyl-prolyl-tRNA synthetase 1 [Source:HGNC Symbol,Acc:HGNC:3418]", "omim_id": "138295", "functional_summary": "EPRS1 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["AIMP1", "AIMP2", "DARS1", "EEF1E1", "EPRS1", "IARS1", "KARS1", "LARS1", "MARS1", "QARS1", "RARS1", "GAPDH", "RPL13A", "SYNCRIP"], "pfam_ids": ["PF00458", "PF00587", "PF03950", "PF03129", "PF20974", "PF09180", "PF21972", "PF00749"], "domain_descriptions": ["WHEP-TRS domain", "Glutamyl/glutaminyl-tRNA synthetase", "Aminoacyl-tRNA synthetase", "class I", "conserved site", "Aminoacyl-tRNA synthetase", "class II (G/ P/ S/T)", "Anticodon-binding", "Proline-tRNA ligase", "class IIa", "archaeal-type", "Glutamyl-tRNA synthetase", "archaeal/eukaryotic cytosolic", "Aminoacyl-tRNA synthetase", "class II", "uS15/NS1", "RNA-binding domain superfamily", "Large ribosomal subunit protein bL25/Gln-tRNA synthetase", "anti-codon-binding domain superfamily", "Rossmann-like alpha/beta/alpha sandwich fold", "Proline-tRNA ligase", "class II", "C-terminal", "Prolyl-tRNA synthetase", "class II", "Large ribosomal subunit protein bL25/Gln-tRNA synthetase", "N-terminal", "Glutamyl/glutaminyl-tRNA synthetase", "class Ib", "catalytic domain", "Glutamyl/glutaminyl-tRNA synthetase", "class Ib", "anti-codon binding domain", "Prolyl-tRNA synthetase", "catalytic domain", "Glutathione S-transferase", "C-terminal domain superfamily", "Anticodon-binding domain superfamily", "Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)", "tRNA synthetases class I (E and Q)", "anti-codon binding domain", "Nuclear-export cofactor Arc1-like", "N-terminal domain", "Glutamine-tRNA ligase", "alpha-bundle domain superfamily", "Glutamine/Glutamate--tRNA Ligase", "Proline-tRNA ligase", "class IIa"], "string_link": "https://string-db.org/network/9606/ENSG00000136628", "synonym": "EARS, EPRS, GLUPRORS, PARS, QARS, QPRS", "ortholog_mouse": "Eprs1", "ortholog_c_elegans": "ears-1", "ortholog_xenopus": "eprs1", "ortholog_zebrafish": "eprs1", "ortholog_drosophila": "GluProRS", "screens": {} }, { "gene": "ERC1", "ensembl_id": "ENSG00000082805", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ELKS/RAB6-interacting/CAST family member 1 [Source:HGNC Symbol,Acc:HGNC:17072]", "omim_id": "607127", "functional_summary": "ERC1 expression was retained at the basal body of ciliated cells, and CEP131 localized to the centriolar satellites (27224062).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transcription regulation", "reference": "2.7224062E7", "complex_components": ["CHUK", "ERC1", "IKBKB", "IKBKG"], "pfam_ids": ["PF10174", "PF09457"], "domain_descriptions": ["Active zone protein ELKS", "Rab-binding domain FIP-RBD", "FIP-RBD", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000082805", "synonym": "CAST2, ELKS, KIAA1081, MGC12974, RAB6IP2", "ortholog_mouse": "Erc1", "ortholog_c_elegans": "elks-1", "ortholog_xenopus": "erc1", "ortholog_zebrafish": "erc1a, erc1b", "ortholog_drosophila": "brp", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.324, "sd_percent_ciliated": 0.324, "z_score": 0.324, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5828, "sd_percent_ciliated": -1.5828, "z_score": -1.5828, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ERICH3", "ensembl_id": "ENSG00000178965", "overexpression_effects": "Not reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "glutamate rich 3 [Source:HGNC Symbol,Acc:HGNC:25346]", "omim_id": "620866", "functional_summary": "ERICH3 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000178965", "synonym": "C1ORF173, DKFZP547I048, RP11-653A5.1", "ortholog_mouse": "Erich3", "ortholog_xenopus": "erich3", "ortholog_zebrafish": "erich3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.108, "sd_percent_ciliated": 0.108, "z_score": 0.108, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ESPL1", "ensembl_id": "ENSG00000135476", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "extra spindle pole bodies like 1, separase [Source:HGNC Symbol;Acc:HGNC:16856]", "omim_id": "604143", "functional_summary": "Loss of ESPL1 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000135476", "synonym": "ESP1; KIAA0165; SEPA", "ortholog_mouse": "Espl1", "ortholog_c_elegans": "sep-1, ZK430.5", "ortholog_xenopus": "espl1", "ortholog_zebrafish": "espl1", "ortholog_drosophila": "Sse", "screens": [] }, { "gene": "EVC", "ensembl_id": "ENSG00000072840", "overexpression_effects": "longer cilia", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "EvC ciliary complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:3497]", "omim_id": "604831", "functional_summary": "Positive regulator of the Hh sig lling pathway, interacting with Smo and promoting Sufu/Gli3 dissociation and Gli3 ciliary traffic (17660199, 23026747, 21356043, 22986504). Mutated in Ellis- van Creveld syndrome (21356043). EVC1 and EVC2 are mutually required for localizing to primary cilia and also for maintaining their normal protein levels (23026747).", "localization": "basal body, cilia, transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone, ECM & connective tissue", "reference": "17660199, 23026747, 22986504, 21356043, 22981989, 17024374, 23220543, 10700184, 23220543 ,17024374, 23220543; 10700184, 23220543", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000072840", "synonym": "DWF-1, EVC1", "ciliopathy": "Ellis-van Creveld Syndrome; Weyers Acrofacial Dysostosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Evc", "ortholog_xenopus": "evc", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.752, "z_score": 0.395, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 41.5954, "z_score": 0.4345, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 11.5659 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 65, "z_score": 65, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 65 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2058, "z_score": -3.2058, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.2058 } ] }, { "gene": "EVC2", "ensembl_id": "ENSG00000173040", "overexpression_effects": "Longer cilia", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "EvC ciliary complex subunit 2 [Source:HGNC Symbol,Acc:HGNC:19747]", "omim_id": "607261", "functional_summary": "Positive regulator of the Hh sig lling pathway, interacting with Smo and promoting Sufu/Gli3 dissociation and Gli3 ciliary traffic (17660199, 23026747, 21356043, 22986504,22981989). Mutated in Ellis-van Creveld syndrome (21356043). EVC1 and EVC2 are mutually required for localizing to primary cilia and also for maintaining their normal protein levels (23026747).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "19005211, 19454479., 16404586, 23220543, 12468274, 17024374,23220543 ,12468274, 17024374,23220543; 16404586, 23220543", "complex_components": {}, "pfam_ids": "PF12297", "domain_descriptions": ["Limbin", "Limbin/EvC complex member EVC"], "string_link": "https://string-db.org/network/9606/ENSG00000173040", "synonym": "LBN", "ciliopathy": "Ellis-van Creveld Syndrome; Weyers Acrofacial Dysostosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Evc2", "ortholog_xenopus": "evc2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.4078, "sd_percent_ciliated": 11.3601, "z_score": -1.2844 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 62.7, "sd_percent_ciliated": 62.7, "z_score": 62.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3693, "sd_percent_ciliated": -1.3693, "z_score": -1.3693 } ] }, { "gene": "EVI2A", "ensembl_id": "ENSG00000126860", "overexpression_effects": "Not reported", "lof_effects": "Not reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ecotropic viral integration site 2A [Source:HGNC Symbol,Acc:HGNC:3499]", "omim_id": "158380", "functional_summary": "EVI2A showed localization of partial staining of the proximal cilium", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF05399", "domain_descriptions": "Ectropic viral integration site 2A protein", "string_link": "https://string-db.org/network/9606/ENSG00000126860", "synonym": "EVDA, EVI2", "ortholog_mouse": "Evi2a", "ortholog_xenopus": "evi2a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.5982, "sd_percent_ciliated": 4.2699, "z_score": 0.1925 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.0735, "sd_percent_ciliated": -10.0735, "z_score": -10.0735 } ] }, { "gene": "EVI5L", "ensembl_id": "ENSG00000142459", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ecotropic viral integration site 5 like [Source:HGNC Symbol,Acc:HGNC:30464]", "functional_summary": "Reducing Evi5l expression in MEFs lacking Tgifs resulted in a partial restoration of cilium numbers and in the transcriptio l response to activation of the Shh pathway.", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions", "reference": "27956704 ,17646400", "complex_components": {}, "pfam_ids": ["PF00566", "PF23436"], "domain_descriptions": ["Rab-GAP-TBC domain", "Rab-GAP-TBC domain superfamily", "Rab GTPase-activating TBC domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000142459", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Evi5l", "ortholog_c_elegans": "eat-17", "ortholog_xenopus": "evi5l", "ortholog_zebrafish": "evi5l", "ortholog_drosophila": "Evi5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.82, "sd_percent_ciliated": 6.82, "z_score": 6.82, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4643, "sd_percent_ciliated": 0.4643, "z_score": 0.4643, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EXOC3", "ensembl_id": "ENSG00000180104", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "exocyst complex component 3 [Source:HGNC Symbol,Acc:HGNC:30378]", "omim_id": "608186", "functional_summary": "Also known as SEC6. Inhibition of ciliary shedding, blocks deciliation-associated down-regulation of claudin-2 and gp135 (PMID:19005211). Sec6/8 complex cooperates with cooperate with syntaxin 3 and S P-25, ceing a candidate effector for Rab8 at the rhodopsin transport carriers (RTC) docking site (19454479)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Ciliary membrane", "reference": "19454479, 18552847", "complex_components": ["Exoc1", "Exoc2", "Exoc3", "Exoc4", "Exoc5", "Exoc6", "Exoc7", "Exoc8", "EXOC1", "EXOC2", "EXOC3", "EXOC4", "EXOC5", "EXOC6", "EXOC7", "EXOC8"], "pfam_ids": "PF06046", "domain_descriptions": ["Exocyst complex component EXOC3/Sec6", "Exocyst complex component EXOC3/Sec6", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000180104", "synonym": "SEC6, SEC6L1", "ortholog_mouse": "Exoc3", "ortholog_c_elegans": "sec-6", "ortholog_xenopus": "exoc3", "ortholog_zebrafish": "exoc3", "ortholog_drosophila": "Sec6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.788, "sd_percent_ciliated": 0.788, "z_score": 0.788, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.4793, "sd_percent_ciliated": -5.4793, "z_score": -5.4793, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EXOC4", "ensembl_id": "ENSG00000131558", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "exocyst complex component 4 [Source:HGNC Symbol,Acc:HGNC:30389]", "omim_id": "608185", "functional_summary": "Also known as SEC8. Sec6/8 complex cooperates with cooperate with syntaxin 3 and S P-25, ceing a candidate effector for Rab8 at the rhodopsin transport carriers (RTC) docking site (19454479). Together with Dvl and Rho, Sec8 is required for regulating the docking and mainte nce of basal bodies to the apical plasma membrane in multi-ciliated cells (18552847).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Ciliary membrane", "reference": "19297529, 30824539, 21490950", "complex_components": ["Exoc1", "Exoc2", "Exoc3", "Exoc4", "Exoc5", "Exoc6", "Exoc7", "Exoc8", "EXOC1", "EXOC2", "EXOC3", "EXOC4", "EXOC5", "EXOC6", "EXOC7", "EXOC8"], "pfam_ids": ["PF20652", "PF04048"], "domain_descriptions": ["Exocyst complex component Sec8", "N-terminal", "Exocyst complex component Sec8/EXOC4", "Exocyst complex component Sec8", "middle helical bundle"], "string_link": "https://string-db.org/network/9606/ENSG00000131558", "synonym": "KIAA1699, MGC27170, SEC8, SEC8L1, SEC8P", "ortholog_mouse": "Exoc4", "ortholog_c_elegans": "sec-8", "ortholog_xenopus": "exoc4", "ortholog_zebrafish": "exoc4", "ortholog_drosophila": "Sec8", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.23, "sd_percent_ciliated": 1.23, "z_score": 1.23, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.4036, "sd_percent_ciliated": -10.4036, "z_score": -10.4036, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EXOC5", "ensembl_id": "ENSG00000070367", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "exocyst complex component 5 [Source:HGNC Symbol,Acc:HGNC:10696]", "omim_id": "604469", "functional_summary": "Also known as SEC10. Central and particularly important exocyst component required for exocyst formation and function. Regulation of primary ciliogenesis and cystogenesis through interactions with Par3 (19297529, 30824539). Linker for other exocyst components, and interacts with polycystin-2, IFT20 and IFT88. Dysfunction may contribute to ciliopathies including autosomal domi nt polycystic kidney disease ADPKD (21490950).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Ciliary membrane", "reference": "22433857, 23435566 ,19297529", "complex_components": ["Exoc1", "Exoc2", "Exoc3", "Exoc4", "Exoc5", "Exoc6", "Exoc7", "Exoc8", "EXOC1", "EXOC2", "EXOC3", "EXOC4", "EXOC5", "EXOC6", "EXOC7", "EXOC8"], "pfam_ids": ["PF07393", "PF20667"], "domain_descriptions": ["Exocyst complex component Sec10-like", "Exocyst complex component Sec10", "N-terminal", "Exocyst complex component Sec10-like", "alpha-helical bundle"], "string_link": "https://string-db.org/network/9606/ENSG00000070367", "synonym": "SEC10, SEC10L1, SEC10P", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Exoc5", "ortholog_c_elegans": "sec-10", "ortholog_xenopus": "exoc5", "ortholog_zebrafish": "exoc5", "ortholog_drosophila": "Sec10", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.38, "sd_percent_ciliated": 5.38, "z_score": 5.38, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2414, "sd_percent_ciliated": -4.2414, "z_score": -4.2414, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EXOC6", "ensembl_id": "ENSG00000138190", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "exocyst complex component 6 [Source:HGNC Symbol,Acc:HGNC:23196]", "omim_id": "609672", "functional_summary": "Also known as Sec15. Interacts with Rabin8 and is a downstream effector of Rab8. Rabin8-Rab8-Sec15 interaction is involved in the regulation of vesicular trafficking, tethering, and fusion for primary cilium formation. Disruption of function of Sec15 leads to a block of endosomal recycling and impaired ciliogenesis (22433857, 23435566).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Ciliary membrane", "reference": "2.3435566E7", "complex_components": ["Exoc1", "Exoc2", "Exoc3", "Exoc4", "Exoc5", "Exoc6", "Exoc7", "Exoc8", "EXOC1", "EXOC2", "EXOC3", "EXOC4", "EXOC5", "EXOC6", "EXOC7", "EXOC8"], "pfam_ids": ["PF20651", "PF04091"], "domain_descriptions": ["Exocyst complex component EXOC6/Sec15", "EXOC6/PINT-1/Sec15/Tip20", "C-terminal", "domain 2", "Exocyst complex component EXOC6/Sec15", "C-terminal", "domain 1", "Exocyst complex subunit EXOC6/Sec15", "C-terminal", "Exocyst complex component EXOC6/Sec15", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138190", "synonym": "DKFZP761I2124, EXOC6A, FLJ1125, MGC33397, SEC15, SEC15L, SEC15L1", "ortholog_mouse": "Exoc6", "ortholog_c_elegans": "sec-15", "ortholog_xenopus": "exoc6", "ortholog_zebrafish": "exoc6", "ortholog_drosophila": "Sec15", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.01, "sd_percent_ciliated": 1.01, "z_score": 1.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1704, "sd_percent_ciliated": -0.1704, "z_score": -0.1704, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "EXOC6B", "ensembl_id": "ENSG00000144036", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "exocyst complex component 6B [Source:HGNC Symbol,Acc:HGNC:17085]", "omim_id": "607880", "functional_summary": "Also called sec15b. Interacts with Rabin8 which is crucial for ciliogenesis by switching binding specificity from phosphatidylserine to Sec15. Depletion decreases the number of ciliated cells.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "3.0008323E7", "complex_components": {}, "pfam_ids": ["PF20651", "PF04091"], "domain_descriptions": ["Exocyst complex component EXOC6/Sec15", "EXOC6/PINT-1/Sec15/Tip20", "C-terminal", "domain 2", "Exocyst complex component EXOC6/Sec15", "C-terminal", "domain 1", "Exocyst complex subunit EXOC6/Sec15", "C-terminal", "Exocyst complex component EXOC6/Sec15", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000144036", "synonym": "KIAA0919, SEC15B, SEC15L2", "ortholog_mouse": "Exoc6b", "ortholog_c_elegans": "sec-15", "ortholog_xenopus": "exoc6b", "ortholog_zebrafish": "exoc6b", "ortholog_drosophila": "Sec15", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.49, "sd_percent_ciliated": 3.49, "z_score": 3.49, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "EXOC7", "ensembl_id": "ENSG00000182473", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "exocyst complex component 7 [Source:HGNC Symbol,Acc:HGNC:23214]", "omim_id": "608163", "functional_summary": "EXOC7 have interactions of with BBS proteins and expression did not overlap with g-tubulin but was detected in close vicinity to the microtubule-organizing center (MTOC) (18000879).", "localization": "basal body, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Ciliary membrane", "reference": "1.8000879E7", "complex_components": ["Exoc1", "Exoc2", "Exoc3", "Exoc4", "Exoc5", "Exoc6", "Exoc7", "Exoc8", "EXOC1", "EXOC2", "EXOC3", "EXOC4", "EXOC5", "EXOC6", "EXOC7", "EXOC8"], "pfam_ids": ["PF20669", "PF03081"], "domain_descriptions": ["Exocyst complex component Exo70", "Cullin repeat-like-containing domain superfamily", "Exocyst complex subunit Exo70", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000182473", "synonym": "BLOM4, EXO70, EXO70P, KIAA1067, YJL085W", "ortholog_mouse": "Exoc7", "ortholog_c_elegans": "exoc-7", "ortholog_xenopus": "exoc7", "ortholog_zebrafish": "exoc7", "ortholog_drosophila": "Exo70", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.6478, "sd_percent_ciliated": 2.2317, "z_score": -0.8919 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.98, "sd_percent_ciliated": 1.98, "z_score": 1.98 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3105, "sd_percent_ciliated": 0.3105, "z_score": 0.3105 } ] }, { "gene": "EXTL1", "ensembl_id": "ENSG00000158008", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "exostosin like glycosyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:3515]", "omim_id": "601738", "functional_summary": "EXTL1 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF03016", "PF09258"], "domain_descriptions": ["Exostosin-like", "Glycosyl transferase 64 domain", "Nucleotide-diphospho-sugar transferases", "Exostosin", "GT47 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000158008", "synonym": "EXTL, MGC70794", "ortholog_mouse": "Extl1", "ortholog_c_elegans": "rib-1", "ortholog_zebrafish": "ext1c", "ortholog_drosophila": "ttv", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.945, "sd_percent_ciliated": 2.1423, "z_score": 0.1134 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.41, "sd_percent_ciliated": 1.41, "z_score": 1.41 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.8313, "sd_percent_ciliated": -6.8313, "z_score": -6.8313 } ] }, { "gene": "EYS", "ensembl_id": "ENSG00000188107", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "eyes shut homolog [Source:HGNC Symbol,Acc:HGNC:21555]", "omim_id": "612424", "functional_summary": "EYS protein is highly concentrated near the connecting cilium/transition zone (CC/TZ) of photoreceptors and also highly concentrated in the outer segment of primate cones. A lysis of EYS-deficient zebrafish shows that EYS is required for the mainte nce of the ciliary pocket and survival of cone photoreceptors as well as survival of rod photoreceptors(27737822).", "localization": "cilia, transition zone, Endoplasmic", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "27737822, 18836446, 18976725 ,18836446, 18976725", "complex_components": {}, "pfam_ids": ["PF02210", "PF00008", "PF12661"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "EGF-like domain", "Laminin G domain", "EGF-like calcium-binding domain", "Growth factor receptor cysteine-rich domain superfamily", "EGF-like", "conserved site", "Concanavalin A-like lectin/glucanase domain superfamily", "EGF-like calcium-binding", "conserved site", "Neurexin-related cell adhesion and synaptic protein", "Notch Signaling and Cell Fate Determination"], "string_link": "https://string-db.org/network/9606/ENSG00000188107", "synonym": "BA166P24.2, BA307F22.3, BA74E24.1, C6ORF178, C6ORF179, C6ORF180, DJ1018A4.2, DJ303F19.1, EGFL10, EGFL11, RP25, SPAM", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_zebrafish": "eys", "ortholog_drosophila": "eys", "screens": {} }, { "gene": "EZH2", "ensembl_id": "ENSG00000106462", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "enhancer of zeste 2 polycomb repressive complex 2 subunit [Source:HGNC Symbol,Acc:HGNC:3527]", "omim_id": "601573", "functional_summary": "Methyltransferase unit of PRC2. EZH2 suppresses genes functio lly connected to the primary cilium, promoting loss of primay cilia, inhibition induces primary cilium formation in most melanoma cell. Loss of cilia", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "27528616, 30395363", "complex_components": ["AEBP2", "EED", "EZH2", "RBBP4", "SUZ12", "RBBP7", "SIRT1", "YY1", "PHF19", "HIC1", "BRD7", "CDYL", "CHAF1A", "CHAF1B", "EHMT2", "MCM2", "MCM3", "MCM4", "MCM5", "MCM6", "MCM7", "SETDB1", "HDAC1", "PARP3", "DNMT3A"], "pfam_ids": ["PF18264", "PF18118", "PF00856", "PF11616", "PF21358"], "domain_descriptions": ["SANT/Myb domain", "SET domain", "Histone-lysine N-methyltransferase EZH1/EZH2", "CXC domain", "Tesmin/TSO1-like CXC domain", "Polycomb repressive complex 2 subunit EZH1/EZH2", "tri-helical domain", "Pre-SET CXC domain", "EZH2", "SET domain", "Histone-lysine N-methyltransferase EZH1/2-like", "SET domain superfamily", "EZH1/2", "MCSS domain"], "string_link": "https://string-db.org/network/9606/ENSG00000106462", "synonym": "ENX-1, EZH1, KMT6, KMT6A", "ortholog_mouse": "Ezh1, Ezh2", "ortholog_c_elegans": "mes-2", "ortholog_xenopus": "ezh1, ezh2", "ortholog_zebrafish": "ezh1, ezh2", "ortholog_drosophila": "E(z)", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.4837, "z_score": 0.6234, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.0667, "z_score": 2.0666, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.0605 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 21, "z_score": 21, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 21 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0859, "z_score": -3.0859, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.0859 } ] }, { "gene": "EZR", "ensembl_id": "ENSG00000092820", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "ezrin [Source:HGNC Symbol,Acc:HGNC:12691]", "omim_id": "123900", "functional_summary": "Ezrin is localised on ciliary basal bodies in multiciliated cells (MCCs) (14996907). Ezrin, ELMO-DOCK1 and its downstream effector Rac1 cooperate and function as a module during the highly coordi ted processes of ciliary basal body targeting and docking to the apical membrane. Depletion of any of these components leads to defects in basal body docking and spacing, and ultimately to defects in ciliary function(25516973).", "localization": "basal body, Cytosol, Endosome, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "14996907 , 25516973", "complex_components": ["CFTR", "EZR", "NHERF1", "CLIC5", "PODXL", "NHERF2", "SCHIP1", "SLC34A1", "PDZK1", "AHNAK", "PPL", "PRX", "MSN", "PAG1", "RDX", "PTH1R", "ADORA2B", "ADRA1B", "SLC12A2"], "pfam_ids": ["PF00373", "PF20492", "PF00769", "PF09379", "PF09380"], "domain_descriptions": ["FERM domain", "Ezrin/radixin/moesin-like", "Moesin tail domain superfamily", "Ezrin/radixin/moesin", "Ezrin/radixin/moesin", "C-terminal", "PH-like domain superfamily", "FERM/acyl-CoA-binding protein superfamily", "FERM", "N-terminal", "FERM", "C-terminal PH-like domain", "FERM conserved site", "FERM central domain", "Band 4.1 domain", "Ubiquitin-like domain superfamily", "FERM superfamily", "second domain", "ERM family", "FERM domain C-lobe", "Ezrin/radixin/moesin", "alpha-helical domain"], "string_link": "https://string-db.org/network/9606/ENSG00000092820", "synonym": "VIL2", "ortholog_mouse": "Ezr", "ortholog_c_elegans": "erm-1", "ortholog_xenopus": "ezr", "ortholog_zebrafish": "ezra, ezrb", "ortholog_drosophila": "Moe", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.66, "sd_percent_ciliated": 3.66, "z_score": 3.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2755, "sd_percent_ciliated": -2.2755, "z_score": -2.2755, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "F2RL1", "ensembl_id": "ENSG00000164251", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "F2R like trypsin receptor 1 [Source:HGNC Symbol,Acc:HGNC:3538]", "omim_id": "600933", "functional_summary": "PAR-2 is expressed basolaterally, where it stimulates both intracellular Ca2+ release and Ca2+ influx, which activates low-level nitric oxide production, increases apical membrane Cl− permeability ∼3–5-fold, and increases ciliary beating ∼20–50%( 28874459).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8874459E7", "complex_components": ["F2R", "F2RL1", "TMED10"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Protease-activated receptor 2", "GPCR", "rhodopsin-like", "7TM", "Protease-activated receptor"], "string_link": "https://string-db.org/network/9606/ENSG00000164251", "synonym": "GPR11, PAR2", "ortholog_mouse": "F2rl1", "ortholog_c_elegans": "gnrr-4", "ortholog_xenopus": "f2rl1", "ortholog_zebrafish": "f2rl1.1, f2rl1.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.5876, "sd_percent_ciliated": 9.4125, "z_score": -0.1722 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.8823, "sd_percent_ciliated": -4.8823, "z_score": -4.8823 } ] }, { "gene": "FAM149B1", "ensembl_id": "ENSG00000138286", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "No effect", "description": "family with sequence similarity 149 member B1 [Source:HGNC Symbol,Acc:HGNC:29162]", "omim_id": "618413", "functional_summary": "Required for normal ciliary biology and that its deficiency results in impaired ciliary structure and a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome.", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "22940612, 24664697, 22791751, 20705278., 30905400 ,30905400", "complex_components": {}, "pfam_ids": "PF12516", "domain_descriptions": ["Domain of Not Reported function DUF3719", "Protein FAM149"], "string_link": "https://string-db.org/network/9606/ENSG00000138286", "synonym": "KIAA0974", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Fam149b", "ortholog_xenopus": "fam149b1", "ortholog_zebrafish": "fam149b1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.1908, "sd_percent_ciliated": 11.2615, "z_score": 0.022, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.158, "sd_percent_ciliated": 0.158, "z_score": 0.158, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3462, "sd_percent_ciliated": -5.3462, "z_score": -5.3462, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FAM161A", "ensembl_id": "ENSG00000170264", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased cilia number", "description": "FAM161 centrosomal protein A [Source:HGNC Symbol,Acc:HGNC:25808]", "omim_id": "613596", "functional_summary": "Causative gene for retinitis pigmentosa (20705278). Reti l ciliopathy protein that is part of connecting cillium complex. Interacts with CEP290, lebercin, OFD1 and SDCCAG8. These interactions suggest that FAM161A could be involved in protein transport and docking between the inner segments and outer plexiform layer (22940612). Component of microtubule- organizing centers that associates with the intracellular microtubule network to increase the acetylation of 伪-tubulin. Involved in microtubule stabilization to maintain the microtubule tracks and/or in transport processes along cytoplasmic and ciliary (24664697, 22791751).", "localization": "basal body, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "30279523, 20705279, 20705278 ,20705279, 20705278", "complex_components": {}, "pfam_ids": "PF10595", "domain_descriptions": ["Protein FAM161A/B", "FAM161"], "string_link": "https://string-db.org/network/9606/ENSG00000170264", "synonym": "FLJ13305, RP28", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Fam161a", "ortholog_c_elegans": "famh-161", "ortholog_xenopus": "fam161a", "ortholog_zebrafish": "fam161a", "ortholog_drosophila": "Fam161", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.43, "sd_percent_ciliated": 1.43, "z_score": 1.43, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "FAM161B", "ensembl_id": "ENSG00000156050", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FAM161 centrosomal protein B [Source:HGNC Symbol,Acc:HGNC:19854]", "functional_summary": "The retinitis pigmentosa 28 protein FAM161A is ciliary protein involved in intermolecular protein interaction and microtubule association(22791751) and associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies(22940612).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "22791751 , 22940612", "complex_components": {}, "pfam_ids": "PF10595", "domain_descriptions": ["Protein FAM161A/B", "FAM161"], "string_link": "https://string-db.org/network/9606/ENSG00000156050", "synonym": "C14ORF44, FLJ31697", "ortholog_mouse": "Fam161b", "ortholog_c_elegans": "famh-161", "ortholog_xenopus": "fam161b", "ortholog_zebrafish": "fam161b", "ortholog_drosophila": "Fam161", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.436, "sd_percent_ciliated": 0.436, "z_score": 0.436, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.1969, "sd_percent_ciliated": 1.1969, "z_score": 1.1969, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FAM177B", "ensembl_id": "ENSG00000197520", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "family with sequence similarity 177 member B [Source:HGNC Symbol,Acc:HGNC:34395]", "functional_summary": "FAM177B has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14774", "domain_descriptions": "FAM177 family", "string_link": "https://string-db.org/network/9606/ENSG00000197520", "synonym": "FLJ43505, RP11-452F19.2", "ortholog_xenopus": "fam177b", "ortholog_drosophila": "CG8300", "screens": {} }, { "gene": "FAM184A", "ensembl_id": "ENSG00000111879", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "family with sequence similarity 184 member A [Source:HGNC Symbol,Acc:HGNC:20991]", "functional_summary": "FAM184A has localized in cilia.", "localization": "cilia, P-body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15665", "domain_descriptions": ["Protein FAM184A/B", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000111879", "synonym": "C6ORF60, FLJ13942", "ortholog_mouse": "Fam184a", "ortholog_c_elegans": "tag-278", "ortholog_xenopus": "fam184a", "ortholog_zebrafish": "fam184aa, fam184ab", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5915, "sd_percent_ciliated": -2.5915, "z_score": -2.5915, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FAM186B", "ensembl_id": "ENSG00000135436", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "family with sequence similarity 186 member B [Source:HGNC Symbol,Acc:HGNC:25296]", "functional_summary": "FAM186B has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF20865", "PF20870"], "domain_descriptions": ["FAM186A/B", "C-terminal", "FAM186A/B", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000135436", "synonym": "C12ORF25, DKFZP434J0113", "ortholog_mouse": "Fam186b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0426, "sd_percent_ciliated": 0.0426, "z_score": 0.0426, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FAM9A", "ensembl_id": "ENSG00000183304", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "family with sequence similarity 9 member A [Source:HGNC Symbol,Acc:HGNC:18403]", "omim_id": "300477", "functional_summary": "FAM9A has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000183304", "synonym": "TEX39A", "ortholog_mouse": "Gm1140, Gm14692, Xlr3a, Xlr3b, Xlr3c, Xlr4a, Xlr4b, Xlr4c, Xlr5a, Xlr5b, Xlr5c", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.2254, "sd_percent_ciliated": 1.9839, "z_score": -1.0642 } ] }, { "gene": "FAN1", "ensembl_id": "ENSG00000276787", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FANCD2 and FANCI associated nuclease 1 [Source:HGNC Symbol,Acc:HGNC:29170]", "omim_id": "613534", "functional_summary": "FAN1 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276787", "synonym": "KIAA1018, MTMR15", "ortholog_mouse": "Fan1", "ortholog_c_elegans": "fan-1", "ortholog_xenopus": "fan1", "ortholog_zebrafish": "fan1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "FANK1", "ensembl_id": "ENSG00000203780", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "fibronectin type III and ankyrin repeat domains 1 [Source:HGNC Symbol,Acc:HGNC:23527]", "omim_id": "611640", "functional_summary": "Regulator of multiciliated cell differentiation in the mouse airway epithelium.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone, Transcription regulation", "reference": "24231678, 30318703. ,29661797", "complex_components": {}, "pfam_ids": ["PF12796", "PF00023", "PF13637"], "domain_descriptions": ["Ankyrin repeat", "Fibronectin type III", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Ankyrin repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000203780", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Fank1", "ortholog_xenopus": "fank1", "ortholog_zebrafish": "fank1", "ortholog_drosophila": "flip", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 22.4559, "sd_percent_ciliated": 10.0261, "z_score": -1.8844 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.49, "sd_percent_ciliated": 1.49, "z_score": 1.49 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0762, "sd_percent_ciliated": 0.0762, "z_score": 0.0762 } ] }, { "gene": "FASN", "ensembl_id": "ENSG00000169710", "overexpression_effects": "Reduced cilia numbers", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "fatty acid synthase [Source:HGNC Symbol;Acc:HGNC:3594]", "omim_id": "600212", "functional_summary": "SREBP1c-induced loss of the primary cilium could be confirmed in mammalian Madin-Darby canine kidney (MDCK) cells and was mediated by changes in the supply of fatty acids. In the second experiment, we transfected MDCK cells with expression constructs encoding FASN and acetyl-CoA carboxylase, which are the two downstream targets of nSREBP1c that catalyze fatty acid synthesis. Expression of FASN- and acetyl-CoA carboxylase significantly reduced the percentage of ciliated cells from 79% for control cells to 27% for FASN- and acetyl-CoA carboxylase–transfected cells (Fig. 4A) (20889723)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.0889723E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000169710", "synonym": "FAS; SDR27X1", "ortholog_mouse": "Fas, Fasn", "ortholog_c_elegans": "F32H2.6, fasn-1", "ortholog_xenopus": "fas, fasn", "ortholog_zebrafish": "fas, fasn", "ortholog_drosophila": "FASN1, FASN2, FASN3", "screens": [] }, { "gene": "FAT2", "ensembl_id": "ENSG00000086570", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FAT atypical cadherin 2 [Source:HGNC Symbol,Acc:HGNC:3596]", "omim_id": "604269", "functional_summary": "Mutations in the FAT2 gene cause Spinocerebellar Ataxia (PMID: 29053796).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "2.9053796E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000086570", "synonym": "CDHF8, CDHR9, HFAT2, MEGF1", "ortholog_mouse": "Fat2", "ortholog_c_elegans": "cdh-4", "ortholog_xenopus": "fat2", "ortholog_zebrafish": "fat2", "ortholog_drosophila": "kug", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.4869, "sd_percent_ciliated": 8.6726, "z_score": -0.4268 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0163, "sd_percent_ciliated": 0.0163, "z_score": 0.0163 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6177, "sd_percent_ciliated": -0.6177, "z_score": -0.6177 } ] }, { "gene": "FBF1", "ensembl_id": "ENSG00000188878", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Fas binding factor 1 [Source:HGNC Symbol,Acc:HGNC:24674]", "omim_id": "616807", "functional_summary": "Transition fiber protein required for ciliogenesis and the ciliary import of assembled intraflagellar transport particles at the cilia base (24231678). Functions in centriole duplication by recruiting", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly", "reference": "30782830, 29040558, 29360984", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": "PF21007", "domain_descriptions": ["Fas-binding factor 1", "Fas-binding factor 1", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000188878", "synonym": "ALB, FBF-1, FLJ00103, KIAA1863", "ortholog_mouse": "Alb, Fbf1", "ortholog_c_elegans": "dyf-19", "ortholog_xenopus": "alb, fbf1", "ortholog_drosophila": "twy", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.4347, "z_score": -1.5367, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 15.0099, "z_score": -2.7865, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 13.146 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 15.6, "z_score": 15.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 15.6 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8514, "z_score": -2.8514, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.8514 } ] }, { "gene": "FBN2", "ensembl_id": "ENSG00000138829", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibrillin 2 [Source:HGNC Symbol,Acc:HGNC:3604]", "omim_id": "612570", "functional_summary": "FBN2 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000138829", "synonym": "CCA, DA9", "ortholog_mouse": "Fbn2", "ortholog_c_elegans": "mua-3", "ortholog_xenopus": "fbn2", "ortholog_zebrafish": "fbn2a, fbn2b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.2797, "sd_percent_ciliated": 10.6479, "z_score": -0.6942 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.186, "sd_percent_ciliated": 0.186, "z_score": 0.186 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9983, "sd_percent_ciliated": -0.9983, "z_score": -0.9983 } ] }, { "gene": "FBXL13", "ensembl_id": "ENSG00000161040", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "F-box and leucine rich repeat protein 13 [Source:HGNC Symbol,Acc:HGNC:21658]", "omim_id": "609080", "functional_summary": "Mutated Fbxl13 and Drc7, two genes with strong expression in mouse testis and which have been shown to be important for flagellum formation and regulation in other systems (31961863).", "localization": "flagella", "reference": "3.1961863E7", "complex_components": {}, "pfam_ids": ["PF13516", "PF12937"], "domain_descriptions": ["Leucine-rich repeat", "F-box domain", "Leucine-rich repeat", "cysteine-containing subtype", "Leucine-rich repeat domain superfamily", "F-box-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000161040", "synonym": "CFAP169, DRC6, FBL13, MGC21636", "ortholog_mouse": "Fbxl13", "ortholog_xenopus": "fbxl13", "ortholog_zebrafish": "fbxl13", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.8686, "sd_percent_ciliated": 8.1045, "z_score": 1.0734, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.718, "sd_percent_ciliated": 0.718, "z_score": 0.718, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.8064, "sd_percent_ciliated": 0.8064, "z_score": 0.8064, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FBXO38", "ensembl_id": "ENSG00000145868", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "F-box protein 38 [Source:HGNC Symbol,Acc:HGNC:28844]", "omim_id": "608533", "functional_summary": "FBXO38 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00646", "domain_descriptions": ["F-box domain", "Leucine-rich repeat domain superfamily", "F-box-like domain superfamily", "F-box only protein 38"], "string_link": "https://string-db.org/network/9606/ENSG00000145868", "synonym": "FBX38, FLJ13962, MOKA, SP329", "ortholog_mouse": "Fbxo38", "ortholog_xenopus": "fbxo38", "ortholog_zebrafish": "fbxo38", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 53.9587, "sd_percent_ciliated": 15.7, "z_score": 1.9324 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.28, "sd_percent_ciliated": 1.28, "z_score": 1.28 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.1513, "sd_percent_ciliated": -9.1513, "z_score": -9.1513 } ] }, { "gene": "FFAR4", "ensembl_id": "ENSG00000186188", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "free fatty acid receptor 4 [Source:HGNC Symbol,Acc:HGNC:19061]", "omim_id": "609044", "functional_summary": "Ciliary GPCRs are critical for adipogenesis, and FFAR4/GPR120 localizes to cilia and 蠅-3 fatty acids activate ciliary FFAR4 and trigger adipogenesis via ciliary cAMP(31761534).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "3.1761534E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000186188", "synonym": "GPR120, GPR129, O3FAR1, PGR4", "ortholog_mouse": "Ffar4", "ortholog_xenopus": "ffar4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.94, "sd_percent_ciliated": 2.94, "z_score": 2.94, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "FGF1", "ensembl_id": "ENSG00000113578", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor 1 [Source:HGNC Symbol,Acc:HGNC:3665]", "omim_id": "131220", "functional_summary": "Cytoplasmic and nuclear FGF1 immunoreactivity was detected in the epithelium lining the infundibulum, ampulla and isthmus of the oviduct. Immunoreactivity was much stronger in the basal bodies of the cilia on the epithelium lining the infundibulum and ampulla (33772852).", "localization": "basal body , cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3772852E7", "complex_components": ["FGF1", "FGFR1", "ITGB3", "ITGAV"], "pfam_ids": "PF00167", "domain_descriptions": ["Fibroblast growth factor family", "Cytokine IL1/FGF"], "string_link": "https://string-db.org/network/9606/ENSG00000113578", "synonym": "AFGF, ECGF, ECGF-BETA, ECGFA, ECGFB, FGF-ALPHA, FGFA, GLIO703, HBGF1", "ortholog_mouse": "Fgf1", "ortholog_c_elegans": "let-756", "ortholog_xenopus": "fgf1", "ortholog_zebrafish": "fgf1a, fgf1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.0048, "sd_percent_ciliated": 2.5781, "z_score": 0.8476 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.338, "sd_percent_ciliated": 0.338, "z_score": 0.338 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1801, "sd_percent_ciliated": -2.1801, "z_score": -2.1801 } ] }, { "gene": "FGF10", "ensembl_id": "ENSG00000070193", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor 10 [Source:HGNC Symbol,Acc:HGNC:3666]", "omim_id": "602115", "functional_summary": "Upon FGF10 stimulation, the activated FGFR2 initiates the downstream sig ling by phosphorylation (p) of FRS2, MEK1, ERK1/2, and p38(MAPK14 ) within the cilium, which results in transcription of the target genes(40257378).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "4.0257378E7", "complex_components": {}, "pfam_ids": "PF00167", "domain_descriptions": ["Fibroblast growth factor family", "Cytokine IL1/FGF"], "string_link": "https://string-db.org/network/9606/ENSG00000070193", "ortholog_mouse": "Fgf10", "ortholog_xenopus": "fgf10", "ortholog_zebrafish": "fgf10a, fgf10b", "ortholog_drosophila": "bnl", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.8286, "sd_percent_ciliated": 3.2249, "z_score": -0.6277 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.26, "sd_percent_ciliated": 3.26, "z_score": 3.26 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.8593, "sd_percent_ciliated": 0.8593, "z_score": 0.8593 } ] }, { "gene": "FGF14", "ensembl_id": "ENSG00000102466", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor 14 [Source:HGNC Symbol,Acc:HGNC:3671]", "omim_id": "601515", "functional_summary": "Mutations in the FGF14 gene cause Spinocerebellar Ataxia (PMID: 30017992).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0017992E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000102466", "synonym": "FHF4, SCA27", "ortholog_mouse": "Fgf14", "ortholog_c_elegans": "let-756", "ortholog_xenopus": "fgf14", "ortholog_zebrafish": "fgf14", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.3197, "z_score": -1.1886, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 28.0336, "z_score": -1.2086, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.8188 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -16.0137, "z_score": -16.0137, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -16.0137 } ] }, { "gene": "FGF2", "ensembl_id": "ENSG00000138685", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor 2 [Source:HGNC Symbol;Acc:HGNC:3676]", "omim_id": "134920", "functional_summary": "FGF2 gene stimulates cilia elongation via FGFR-ICK signaling in fibroblasts; requires ICK for effect(PMID: 30782830).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "3.078283E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000138685", "synonym": "FGFB", "ortholog_mouse": "Fgf2", "ortholog_c_elegans": "let-756", "ortholog_xenopus": "fgf2", "ortholog_zebrafish": "fgf2", "screens": [] }, { "gene": "FGF23", "ensembl_id": "ENSG00000118972", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor 23 [Source:HGNC Symbol,Acc:HGNC:3680]", "omim_id": "605380", "functional_summary": "Disruptions in the FGF23–PTH axis resulting in reduced calcium uptake in the developing mandible and potential treatment for ciliopathic microg thia (35818799).FGF23 localized to basal body (25613900)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "35818799 ,25613900", "complex_components": ["FGF23", "FGFR1", "Kl"], "pfam_ids": "PF00167", "domain_descriptions": ["Fibroblast growth factor family", "Cytokine IL1/FGF"], "string_link": "https://string-db.org/network/9606/ENSG00000118972", "ortholog_mouse": "Fgf23", "ortholog_xenopus": "fgf23, fgf23.2", "ortholog_zebrafish": "fgf23", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.5118, "sd_percent_ciliated": 3.0315, "z_score": -1.1507 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0137, "sd_percent_ciliated": 0.0137, "z_score": 0.0137 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.997, "sd_percent_ciliated": -1.997, "z_score": -1.997 } ] }, { "gene": "FGF4", "ensembl_id": "ENSG00000075388", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor 4 [Source:HGNC Symbol,Acc:HGNC:3682]", "omim_id": "164980", "functional_summary": "Fgf4 was required for the formation of cilia in Kupffer's vesicle, indicating that the role of Fgf4 in the LR patterning is quite distinct from that of Fgf8. Fgf4 plays a unique role in the LR patterning of visceral organs in zebrafish ( 19481538).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue", "reference": "1.9481538E7", "complex_components": {}, "pfam_ids": "PF00167", "domain_descriptions": ["Fibroblast growth factor family", "Cytokine IL1/FGF"], "string_link": "https://string-db.org/network/9606/ENSG00000075388", "synonym": "HBGF-4, HST, HST-1, HSTF1, K-FGF, KFGF", "ortholog_mouse": "Fgf4", "ortholog_xenopus": "fgf4", "ortholog_zebrafish": "fgf4", "ortholog_drosophila": "bnl", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.252, "sd_percent_ciliated": 7.3634, "z_score": 0.8775 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.171, "sd_percent_ciliated": 0.171, "z_score": 0.171 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -13.0974, "sd_percent_ciliated": -13.0974, "z_score": -13.0974 } ] }, { "gene": "FGF8", "ensembl_id": "ENSG00000107831", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "fibroblast growth factor 8 [Source:HGNC Symbol,Acc:HGNC:3686]", "omim_id": "600483", "functional_summary": "Kupffer's vesicle is not only required for normal asymmetric development of the viscera, but also that in the absence of fgf8, this ciliated organ directs aberrant asymmetric development of the pharyngeal skeleton ( 15932752).Fgf8 and Fgf24 both signal through FGFR1 to maintain normal cilia length. Loss of both causes pronounced shortening(PMID: 19242413).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, Transcription regulation, Cilia length regulation", "reference": "15932752, 19242413", "complex_components": {}, "pfam_ids": "PF00167", "domain_descriptions": ["Fibroblast growth factor family", "Cytokine IL1/FGF"], "string_link": "https://string-db.org/network/9606/ENSG00000107831", "synonym": "AIGF", "ortholog_mouse": "Fgf8", "ortholog_c_elegans": "egl-17", "ortholog_xenopus": "fgf8", "ortholog_zebrafish": "fgf8a, fgf8b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5024, "sd_percent_ciliated": 11.8945, "z_score": 0.3021 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.39, "sd_percent_ciliated": 0.39, "z_score": 0.39 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.9834, "sd_percent_ciliated": -7.9834, "z_score": -7.9834 } ] }, { "gene": "FGFR1", "ensembl_id": "ENSG00000077782", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "fibroblast growth factor receptor 1 [Source:HGNC Symbol,Acc:HGNC:3688]", "omim_id": "136350", "functional_summary": "FGFR1 localized to the nodal cilia of mice and kinocilia, where it participated in establishment of the left-right axis and FGFR1 was colocalized with FGFR2 and 3(30061390 , 15889083).FGFR1 positively regulates cilia length in multiple tissues (KV, pronephric ducts, otic vesicle) and across vertebrates (zebrafish, Xenopus)(PMID: 19242413).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Cilia length regulation", "reference": "30061390 , 15889083, 36859276,19242413 ,36859276", "complex_components": ["ANOS1", "FGFR1", "FGF21", "KLB", "FGF23", "Kl", "FGF1", "ITGB3", "FLT1", "VEGFB"], "pfam_ids": ["PF07679", "PF07714", "PF00047", "PF13927"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Immunoglobulin-like beta-sandwich domain", "Immunoglobulin-like fold", "Fibroblast growth factor receptor family", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Fibroblast growth factor receptor 1", "catalytic domain", "Immunoglobulin-like domain superfamily", "Receptor Tyrosine Kinase", "Fibroblast growth factor receptor-like"], "string_link": "https://string-db.org/network/9606/ENSG00000077782", "synonym": "BFGFR, CD331, CEK, FLG, FLT2, H2, H3, H4, H5, KAL2, N-SAM", "ciliopathy": "Kallmann syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Fgfr1", "ortholog_c_elegans": "egl-15", "ortholog_xenopus": "fgfr1", "ortholog_zebrafish": "fgfr1a, fgfr1b", "ortholog_drosophila": "btl, htl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.3362, "sd_percent_ciliated": 11.11, "z_score": 1.4935 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.495, "sd_percent_ciliated": 0.495, "z_score": 0.495 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1656, "sd_percent_ciliated": -2.1656, "z_score": -2.1656 } ] }, { "gene": "FGFR1OP2", "ensembl_id": "ENSG00000111790", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "FGFR1 oncogene partner 2 [Source:HGNC Symbol,Acc:HGNC:23098]", "omim_id": "608858", "functional_summary": "SLMAP3 modulates PCP at the level of primary cilium, a function that might be shared with its partner FGFR1OP2, with mechanisms involving protein stability of DVL3 and STRIPAK independent of Hippo sig lling ( 39417621).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.9417621E7", "complex_components": {}, "pfam_ids": "PF05769", "domain_descriptions": "SIKE family", "string_link": "https://string-db.org/network/9606/ENSG00000111790", "synonym": "DKFZP564O1863", "ortholog_mouse": "Fgfr1op2", "ortholog_c_elegans": "C14B1.8", "ortholog_xenopus": "fgfr1op2", "ortholog_zebrafish": "fgfr1op2", "ortholog_drosophila": "Fgop2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.3468, "sd_percent_ciliated": 0.4454, "z_score": -0.3226 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.46, "sd_percent_ciliated": 9.46, "z_score": 9.46 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.1888, "sd_percent_ciliated": 0.1888, "z_score": 0.1888 } ] }, { "gene": "FGFR2", "ensembl_id": "ENSG00000066468", "overexpression_effects": "Shorter cilia", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "fibroblast growth factor receptor 2 [Source:HGNC Symbol,Acc:HGNC:3689]", "omim_id": "176943", "functional_summary": "FGFR1 and FGFR2, but not FGFR3 and FGFR4, localize to primary cilia of the developing mouse tissues and in vitro cells. For FGFR2, we demonstrate that the ciliary residence is necessary for its sig ling and expression of target morphogenic genes (40257378).Disease-associated activating mutations (e.g., p.N550K, p.P253R, p.C342R, p.M391R) of FGFR2 shorten primary cilia by 10–24%.Loss of function of FGFR2 didn't affect cilia length and ciliated cell percentage(PMID: 40257378).", "localization": "cilia, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation, Cilia length regulation", "reference": "4.02573784025737E15", "complex_components": ["CBL", "FGFR2", "FYN", "LYN"], "pfam_ids": ["PF13927", "PF07679", "PF07714"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Fibroblast growth factor receptor family", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Immunoglobulin-like domain superfamily", "Receptor Tyrosine Kinase", "Fibroblast growth factor receptor-like"], "string_link": "https://string-db.org/network/9606/ENSG00000066468", "synonym": "BEK, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25", "ortholog_mouse": "Fgfr2", "ortholog_c_elegans": "egl-15", "ortholog_xenopus": "fgfr2", "ortholog_zebrafish": "fgfr2", "ortholog_drosophila": "btl, htl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.3743, "sd_percent_ciliated": 1.5599, "z_score": 0.2865 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.4232, "sd_percent_ciliated": -1.4232, "z_score": -1.4232 } ] }, { "gene": "FGFR3", "ensembl_id": "ENSG00000068078", "overexpression_effects": "Shorter cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "fibroblast growth factor receptor 3 [Source:HGNC Symbol,Acc:HGNC:3690]", "omim_id": "134934", "functional_summary": "Interacts with ICK to regular驴te ciliogenesis and control ciliary length (30782830). FGFR3 sig ling affects the elongation process of the primary cilia. Constitutively active FGFR3 perturbed cilia length, sorting and trafficking of intraflagellar transport 20 (29040558). Mutations in FGFR3 lead to short primary cilia, and constitutive activation of FGFR3 sig ling produces the skeletal disorders achondroplasia and tha tophoric dysplasia (29360984).", "localization": "basal body, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Cilia length regulation", "reference": "2.974202E7", "complex_components": {}, "pfam_ids": ["PF21165", "PF07679", "PF07714", "PF13927"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Fibroblast growth factor receptor family", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Immunoglobulin-like domain superfamily", "Receptor Tyrosine Kinase", "Fibroblast growth factor receptor-like"], "string_link": "https://string-db.org/network/9606/ENSG00000068078", "synonym": "ACH, CD333, CEK2, JTK4", "ortholog_mouse": "Fgfr3", "ortholog_c_elegans": "egl-15", "ortholog_xenopus": "fgfr3", "ortholog_zebrafish": "fgfr3", "ortholog_drosophila": "btl, htl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.4497, "sd_percent_ciliated": 0.0581, "z_score": -0.4313, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.28, "sd_percent_ciliated": 1.28, "z_score": 1.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7156, "sd_percent_ciliated": -1.7156, "z_score": -1.7156, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FGFR4", "ensembl_id": "ENSG00000160867", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor receptor 4 [Source:HGNC Symbol,Acc:HGNC:3691]", "omim_id": "134935", "functional_summary": "Fgfr4 knockdown causes mispatterning of the left-right organizer (LRO) even before cilia on its surface initiate symmetry-breaking fluid flow, indicating a role in the earliest stages of LR development ( 30564136).", "localization": "Ciliary associated gene, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0564136E7", "complex_components": ["FGF19", "FGFR4", "KLB", "FGF21"], "pfam_ids": ["PF13927", "PF07679", "PF07714"], "domain_descriptions": ["Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin-like fold", "Immunoglobulin-like domain superfamily", "Fibroblast growth factor receptor-like", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Fibroblast growth factor receptor family", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Receptor Tyrosine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000160867", "synonym": "CD334, JTK2, TKF", "ortholog_mouse": "Fgfr4", "ortholog_c_elegans": "egl-15", "ortholog_xenopus": "fgfr4", "ortholog_zebrafish": "fgfr4", "ortholog_drosophila": "btl, htl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.7358, "sd_percent_ciliated": 3.7259, "z_score": -1.2447 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.58, "sd_percent_ciliated": 1.58, "z_score": 1.58 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.139, "sd_percent_ciliated": -3.139, "z_score": -3.139 } ] }, { "gene": "FH", "ensembl_id": "ENSG00000091483", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fumarate hydratase [Source:HGNC Symbol,Acc:HGNC:3700]", "omim_id": "136850", "functional_summary": "SPANX-A/D interacts with fumarate hydratase(FH) and colocalises with both fumarate hydratase and Tektin 1 proteins, involved in meeting energy demands for sperm motility, and with nuclear pore complex nucleoporins ( 32221341).", "localization": "Ciliary associated gene, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cell migration & adhesion", "reference": "3.2221341E7", "complex_components": {}, "pfam_ids": ["PF00206", "PF10415"], "domain_descriptions": ["Fumarate lyase family", "Fumarate hydratase", "class II", "L-Aspartase-like", "Fumarase C", "C-terminal", "Fumarate lyase", "conserved site", "Fumarate lyase", "N-terminal", "Fumarase/histidase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000091483", "ortholog_mouse": "Fh1", "ortholog_c_elegans": "fum-1", "ortholog_xenopus": "fh", "ortholog_zebrafish": "fh", "ortholog_drosophila": "Fum1, Fum2, Fum3, Fum4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.5994, "sd_percent_ciliated": 5.7461, "z_score": -0.8977 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.23, "sd_percent_ciliated": 3.23, "z_score": 3.23 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.2459, "sd_percent_ciliated": -9.2459, "z_score": -9.2459 } ] }, { "gene": "FHDC1", "ensembl_id": "ENSG00000137460", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "FH2 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:29363]", "omim_id": "620268", "functional_summary": "Coordi tion of cytoskeletal dy mics during normal cilia assembly. Interacts with CEP170 to regulare cilia elongation and inhibition of cilia assembly. Overexpression of FHDC1 induces F-actin accumulation, microtubule stabilization, blocks cilia assembly and induces cilia resorption .FHDC1 is essential for normal cilia assembly.Overexpression can elongate cilia (especially via MTBD), sometimes while reducing the number of ciliated cells.Loss-of-function reduces both cilia length and percentage of ciliated cells, and causes basal body/centrosome defects(29742020).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cilia length regulation", "reference": "27072130, 23784378", "complex_components": {}, "pfam_ids": "PF02181", "domain_descriptions": ["Formin", "FH2 domain", "Formin", "FH2 domain superfamily", "Formin Homology Diaphanous subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137460", "synonym": "INF1, KIAA1727", "ortholog_mouse": "Fhdc1", "ortholog_c_elegans": "exc-6", "ortholog_xenopus": "fhdc1", "ortholog_zebrafish": "fhdc1", "ortholog_drosophila": "form3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.891, "sd_percent_ciliated": 0.891, "z_score": 0.891, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9091, "sd_percent_ciliated": 0.9091, "z_score": 0.9091, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FHOD1", "ensembl_id": "ENSG00000135723", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "formin homology 2 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:17905]", "omim_id": "606881", "functional_summary": "Formin homology 2 domain containing 1 (Fhod1) surrounded basal bodies in a donut-like fashion, occupying the space in between basal bodies and actin filaments(35440631)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.5440631E7", "complex_components": {}, "pfam_ids": ["PF02181", "PF24959", "PF18382"], "domain_descriptions": ["Armadillo-like helical", "Rho GTPase-binding/formin homology 3 (GBD/FH3) domain", "Formin", "FH2 domain", "Armadillo-type fold", "FHOD1", "N-terminal GTPase-binding domain", "Formin", "FH2 domain superfamily", "FHOD1/3-like", "FH3 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000135723", "synonym": "FHOS", "ortholog_mouse": "Fhod1", "ortholog_c_elegans": "fhod-1", "ortholog_xenopus": "fhod1", "ortholog_zebrafish": "fhod1", "ortholog_drosophila": "Fhos", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.2911, "sd_percent_ciliated": 7.5977, "z_score": -0.5716, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.669, "sd_percent_ciliated": 0.669, "z_score": 0.669, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0585, "sd_percent_ciliated": -3.0585, "z_score": -3.0585, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FHOD3", "ensembl_id": "ENSG00000134775", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "formin homology 2 domain containing 3 [Source:HGNC Symbol,Acc:HGNC:26178]", "omim_id": "609691", "functional_summary": "Fhod3 localized to the anterior rootlet (Fig. 3c), and additio lly labeled posterior rootlets(35440631).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development", "reference": "3.5440631E7", "complex_components": {}, "pfam_ids": ["PF18382", "PF24959", "PF02181"], "domain_descriptions": ["Armadillo-like helical", "Diaphanous autoregulatory (DAD) domain", "Rho GTPase-binding/formin homology 3 (GBD/FH3) domain", "Formin", "FH2 domain", "Armadillo-type fold", "FHOD1", "N-terminal GTPase-binding domain", "Formin", "FH2 domain superfamily", "FHOD1/3-like", "FH3 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000134775", "synonym": "FHOS2, FLJ22297, FLJ22717, KIAA1695", "ortholog_mouse": "Fhod3", "ortholog_c_elegans": "fhod-1", "ortholog_xenopus": "fhod3", "ortholog_zebrafish": "fhod3a, fhod3b", "ortholog_drosophila": "Fhos", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.232, "sd_percent_ciliated": 8.0724, "z_score": 0.5116, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.727, "sd_percent_ciliated": 0.727, "z_score": 0.727, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.0073, "sd_percent_ciliated": 2.0073, "z_score": 2.0073, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FIGNL1", "ensembl_id": "ENSG00000132436", "overexpression_effects": "Shorter", "lof_effects": "Increased ciliogenesis", "percent_ciliated_cells_effects": "Reduced (when overexpressed)", "description": "fidgetin like 1 [Source:HGNC Symbol,Acc:HGNC:13286]", "functional_summary": "Overexpressed FIGL-1 markedly disturbs ciliogenesis and the centrosome structure. Endogenous FIGL-1 localizes to the centrosome in cells, preferentially to the mother centriole. Depletion of FIGL-1 enhances ciliogenesis and slows cilia disassembly(27384458).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "2.7384458E7", "complex_components": {}, "pfam_ids": ["PF17862", "PF00004", "PF09336"], "domain_descriptions": ["AAA+ ATPase domain", "ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "Spastin/Vps4", "C-terminal", "P-loop containing nucleoside triphosphate hydrolase", "AAA ATPase", "AAA+ lid domain", "Fidgetin-like 1", "ATPase domain", "Microtubule-severing AAA ATPase"], "string_link": "https://string-db.org/network/9606/ENSG00000132436", "ortholog_mouse": "Fignl1", "ortholog_c_elegans": "figl-1", "ortholog_xenopus": "fignl1", "ortholog_zebrafish": "fignl1", "ortholog_drosophila": "Fign", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4258, "sd_percent_ciliated": 0.0288, "z_score": -0.9188 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.251, "sd_percent_ciliated": 0.251, "z_score": 0.251 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3724, "sd_percent_ciliated": -3.3724, "z_score": -3.3724 } ] }, { "gene": "FKBP1A", "ensembl_id": "ENSG00000088832", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FKBP prolyl isomerase 1A [Source:HGNC Symbol,Acc:HGNC:3711]", "omim_id": "186945", "functional_summary": "FKBP1A has localized in basal body.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["FKBP1A", "PPP3CA", "PPP3R1", "GLMN", "ACVR1B", "SMAD7", "SMURF1", "TGFBR1"], "pfam_ids": "PF00254", "domain_descriptions": ["FKBP-type peptidyl-prolyl cis-trans isomerase domain", "Peptidyl-prolyl cis-trans isomerase domain superfamily", "FKBP-type Peptidyl-prolyl cis-trans Isomerase"], "string_link": "https://string-db.org/network/9606/ENSG00000088832", "synonym": "FKBP-12, FKBP1, FKBP12, FKBP12C, PKC12, PPIASE", "ortholog_mouse": "Fkbp1a", "ortholog_c_elegans": "fkb-2", "ortholog_xenopus": "fkbp1a", "ortholog_zebrafish": "fkbp1aa, fkbp1ab", "ortholog_drosophila": "Fkbp12", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2545, "z_score": 0.5519, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 53.5747, "z_score": 1.8859, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.5193 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.15, "z_score": 2.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.15 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3554, "z_score": -4.3554, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.3554 } ] }, { "gene": "FKBP1B", "ensembl_id": "ENSG00000119782", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FKBP prolyl isomerase 1B [Source:HGNC Symbol,Acc:HGNC:3712]", "omim_id": "600620", "functional_summary": "FKBP1B has localized in basal body.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, T cell biology, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00254", "domain_descriptions": ["FKBP-type peptidyl-prolyl cis-trans isomerase domain", "Peptidyl-prolyl cis-trans isomerase domain superfamily", "FKBP-type Peptidyl-prolyl cis-trans Isomerase"], "string_link": "https://string-db.org/network/9606/ENSG00000119782", "synonym": "FKBP12.6, FKBP1L, FKBP9, OTK4, PPIASE", "ortholog_mouse": "Fkbp1b, Fkbp9", "ortholog_c_elegans": "fkb-2, fkb-3, fkb-4, fkb-5", "ortholog_xenopus": "fkbp1b, fkbp9", "ortholog_zebrafish": "fkbp1b, fkbp9", "ortholog_drosophila": "Fkbp12", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.9555, "sd_percent_ciliated": 3.2729, "z_score": 0.1146 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.78, "sd_percent_ciliated": 1.78, "z_score": 1.78 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.2139, "sd_percent_ciliated": -7.2139, "z_score": -7.2139 } ] }, { "gene": "FKBP1C", "ensembl_id": "ENSG00000198225", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FKBP prolyl isomerase family member 1C [Source:HGNC Symbol,Acc:HGNC:21376]", "functional_summary": "FKBP1C has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00254", "domain_descriptions": ["FKBP-type peptidyl-prolyl cis-trans isomerase domain", "Peptidyl-prolyl cis-trans isomerase domain superfamily", "FKBP-type Peptidyl-prolyl cis-trans Isomerase"], "string_link": "https://string-db.org/network/9606/ENSG00000198225", "synonym": "BA184C23.2", "ortholog_mouse": "Fkbp1a", "ortholog_c_elegans": "fkb-2", "ortholog_xenopus": "fkbp1a", "ortholog_zebrafish": "fkbp1b", "ortholog_drosophila": "Fkbp12", "screens": {} }, { "gene": "FLACC1", "ensembl_id": "ENSG00000155749", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "flagellum associated containing coiled-coil domains 1 [Source:HGNC Symbol,Acc:HGNC:14439]", "omim_id": "619796", "functional_summary": "ALS2CR12 protein is associated with the fibrous sheath in the sperm flagellum (21402173).", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "2.1402173E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000155749", "synonym": "ALS2CR12", "ortholog_mouse": "Flacc1", "ortholog_xenopus": "flacc1", "screens": {} }, { "gene": "FLCN", "ensembl_id": "ENSG00000154803", "overexpression_effects": "Not Reported", "lof_effects": "Shorter (under flow stress) / no effect (no-flow)", "percent_ciliated_cells_effects": "Little / no effect", "description": "folliculin [Source:HGNC Symbol,Acc:HGNC:27310]", "omim_id": "607273", "functional_summary": "Part of the mechanosensory machinery of primary cilia. Tumor suppressor associated with Birt-Hogg-Dub茅 (BHD) syndrome. Down-regulation of mTORC1 sig ling pathway through primary cilia, it recruits and associates with LKB1 and recruits the ki se to primary cilia for activation of AMPK (27072130). FLCN expression levels are critically important for correct timing of ciliogenesis and intracellular transport events involved in ciliogenesis (23784378).", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "22121117, 28973524, 12204536, 23784378 ,12204536, 23784378", "complex_components": ["FLCN", "FNIP2"], "pfam_ids": ["PF16692", "PF11704"], "domain_descriptions": ["Folliculin", "Folliculin", "DENN domain", "Folliculin/SMCR8", "longin domain", "Folliculin/SMCR8", "tripartite DENN domain", "Folliculin", "DENN domain", "C-terminal superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000154803", "synonym": "BHD, DENND8B, MGC17998, MGC23445", "ciliopathy": "Birt-Hogg-Dubé Syndrome", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Flcn", "ortholog_c_elegans": "flcn-1", "ortholog_xenopus": "flcn", "ortholog_zebrafish": "flcn", "ortholog_drosophila": "BHD", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 107, "sd_percent_ciliated": 107, "z_score": 107, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.5117, "sd_percent_ciliated": -9.5117, "z_score": -9.5117, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FLNA", "ensembl_id": "ENSG00000196924", "overexpression_effects": "Not Reported", "lof_effects": "Shorter/Failure of ciliogenesis", "percent_ciliated_cells_effects": "Decreased", "description": "filamin A [Source:HGNC Symbol,Acc:HGNC:3754]", "omim_id": "300017", "functional_summary": "Role in the normal processes of ciliogenesis and basal body positioning. Interacts with meckelin to regulate levels of Wnt sig lling. Knockdown causes a failure in ciliogenesis and aberrant migration of the centriole pair to the apical cell surface suggestion FL is essential in mediating basal body migration and docking at the apical cell surface ( 22121117, 28973524).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "22684256, 27129201", "complex_components": ["FILIP1", "FLNA", "AR", "Agtr1", "MTNR1A", "MTNR1B", "CASR"], "pfam_ids": ["PF00307", "PF00630"], "domain_descriptions": ["Filamin/ABP280 repeat", "Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "Immunoglobulin-like fold", "Immunoglobulin E-set", "Filamin/ABP280 repeat-like", "CH domain superfamily", "Filamin family"], "string_link": "https://string-db.org/network/9606/ENSG00000196924", "synonym": "ABP-280, FLN, FLN1, OPD1, OPD2", "ortholog_mouse": "Flna", "ortholog_c_elegans": "fln-1", "ortholog_xenopus": "flna", "ortholog_zebrafish": "flna", "ortholog_drosophila": "cher", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5576, "sd_percent_ciliated": 5.117, "z_score": 0.3087 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.1995, "sd_percent_ciliated": 0.1995, "z_score": 0.1995 } ] }, { "gene": "FLOT1", "ensembl_id": "ENSG00000137312", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "flotillin 1 [Source:HGNC Symbol,Acc:HGNC:3757]", "omim_id": "606998", "functional_summary": "FLOT1 have interactions of with BBS proteins and FLOT1 localize , at least partially, with g-tubulin within centrosomes (18000879). ,", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "1.8000879E7", "complex_components": ["CBL", "FLOT1", "SORBS1", "ABCA1", "STX12"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000137312", "ortholog_mouse": "Flot1", "ortholog_xenopus": "flot1", "ortholog_zebrafish": "flot1a, flot1b", "ortholog_drosophila": "Flo1", "screens": {} }, { "gene": "FLT4", "ensembl_id": "ENSG00000037280", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fms related receptor tyrosine kinase 4 [Source:HGNC Symbol,Acc:HGNC:3767]", "omim_id": "136352", "functional_summary": "the vascular endothelial growth factor receptor 3 FLT4 localized at primary cilia", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["FLT4", "NRP2", "CDH5", "KDR", "VEGFC", "VEGFD", "IL1B", "ITGB1", "SRC", "CAV1", "ITGA5"], "pfam_ids": ["PF07679", "PF21339", "PF07714", "PF22971", "PF22854", "PF13927", "PF17988"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class III", "conserved site", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Immunoglobulin-like domain superfamily", "VEGFR-2", "transmembrane domain", "Receptor Tyrosine Kinase", "VEGFR1-3", "fifth immunoglobulin-like domain", "VEGFR1-3", "N-terminal Ig-like domain", "Platelet-derived growth factor receptor-like protein"], "string_link": "https://string-db.org/network/9606/ENSG00000037280", "synonym": "PCL, VEGFR-3, VEGFR3", "ortholog_mouse": "Flt4", "ortholog_c_elegans": "ver-1, ver-3, ver-4", "ortholog_xenopus": "flt4", "ortholog_zebrafish": "flt4", "ortholog_drosophila": "Pvr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.823, "sd_percent_ciliated": 3.2874, "z_score": -1.113, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.19, "sd_percent_ciliated": 2.19, "z_score": 2.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6523, "sd_percent_ciliated": -0.6523, "z_score": -0.6523, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FMN1", "ensembl_id": "ENSG00000248905", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "formin 1 [Source:HGNC Symbol,Acc:HGNC:3768]", "omim_id": "136535", "functional_summary": "RhoA works in concert with Fmn1 to control assembly of the specialized apical actin network in multiciliated epithelial cells ( 28089989). The formin group of actin nucleators such as DIAPH1-3, INF1, and **FMN1-2 are known to bind microtubules and influence their dynamics, leading to cross talk [with ciliary processes]. (33872598)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "28089989, 33872598", "complex_components": {}, "pfam_ids": "PF02181", "domain_descriptions": ["Formin homology family", "Cappuccino subfamily", "Formin", "FH2 domain", "Formin", "FH2 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000248905", "synonym": "DKFZP686C2281, FLJ45135, FMN, LD, MGC125288, MGC125289", "ortholog_mouse": "Fmn1", "ortholog_xenopus": "fmn1", "ortholog_zebrafish": "fmn1, si:ch1073-209e23.1", "ortholog_drosophila": "capu", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.84, "sd_percent_ciliated": 1.84, "z_score": 1.84, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -14.8811, "sd_percent_ciliated": -14.8811, "z_score": -14.8811, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FMR1", "ensembl_id": "ENSG00000102081", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Reduced", "description": "fragile X messenger ribonucleoprotein 1 [Source:HGNC Symbol,Acc:HGNC:3775]", "omim_id": "309550", "functional_summary": "FMRP regulates transport efficacy, by regulating the association between mR cargo and and suggest a new mechanism for the Fragile X syndrome(18655836). Ciliary mRNP granules contained Fmrp, an R -binding protein (RBP) critical for neuro l plasticity by regulating local translation in neurites(25549890). Depriving the ciliary pool of Fmrp resulted in degeneration of ependymal multicilia(34848703). The number of primary cilia in Fmr1 KO mice is reduced, specifically in the DG of the hippocampus (32735823) FMRP loss leads to primary ciliary deficits in cerebellar Bergmann glia which may contribute to cerebellar deficits in FXS. (35438410)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "18655836 , 25549890 , 34848703, 32735823, 35438410", "complex_components": {}, "pfam_ids": ["PF12235", "PF05641", "PF18336", "PF17904", "PF16098", "PF00013"], "domain_descriptions": ["K Homology domain", "K Homology domain", "type 1", "Agenet-like domain", "Fragile X messenger ribonucleoprotein 1-like", "C-terminal core", "Fragile X messenger ribonucleoprotein 1", "C-terminal region 2", "K Homology domain", "type 1 superfamily", "Fragile X messenger ribonucleoprotein 1", "Synaptic functional regulator FMRP", "KH0 domain", "FMR1", "tudor domain", "Fragile X messenger ribonucleoprotein 1", "first Tudor-like Agenet domain", "Fragile X messenger ribonucleoprotein 1", "second Tudor-like Agenet domain", "Fragile X messenger ribonucleoprotein 1", "first type I K homology domain", "Fragile X messenger ribonucleoprotein 1", "second type I K homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000102081", "synonym": "FMRP, FRAXA, MGC87458, POF, POF1", "ortholog_mouse": "Fmr1", "ortholog_xenopus": "fmr1", "ortholog_zebrafish": "fmr1", "ortholog_drosophila": "Fmr1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.62, "z_score": -1.2824, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.8344, "z_score": -2.3232, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.9956 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.2, "z_score": 0.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.2 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0134, "z_score": 0.0134, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.0134 } ] }, { "gene": "FN1", "ensembl_id": "ENSG00000115414", "overexpression_effects": "Not Reported", "lof_effects": "No change in nodal cilia length", "percent_ciliated_cells_effects": "Not Reported", "description": "fibronectin 1 [Source:HGNC Symbol,Acc:HGNC:3778]", "omim_id": "135600", "functional_summary": "Mutations in the FN1 gene cause Spondylometaphyseal Dysplasia (PMID: 4419008). The width of the node but not the length of the nodal cilia depends on FN (21466802)", "localization": "Ciliary associated gene, Endosome, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "4419008, 21466802", "complex_components": ["FN1", "FYN", "ITGB6", "TGM2", "ITGA2B", "ITGB3", "ITGA5", "ITGB1", "SFRP2", "CCN3", "APOA1", "APOL1", "HPR", "IGHM"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000115414", "synonym": "CIG, FINC, GFND2, LETS, LNC-ABCA12-8, MSF", "ortholog_mouse": "Fn1", "ortholog_c_elegans": "let-805", "ortholog_xenopus": "fn1", "ortholog_zebrafish": "fn1a, fn1b", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.7043, "z_score": 0.3801, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 52.4763, "z_score": 1.7528, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.128 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2205, "z_score": -1.2205, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.2205 } ] }, { "gene": "FNBP1L", "ensembl_id": "ENSG00000137942", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "formin binding protein 1 like [Source:HGNC Symbol,Acc:HGNC:20851]", "omim_id": "608848", "functional_summary": "TOCA1. Target of miR-129-3p in ciliation-related actin dy mics, which induces ciliation in proliferating cells and also promoted cilia elongation (22684256). Binds to Cdc42, leading to actin rearrangements, which are thought to be involved in processes such as endocytosis (27129201).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26643951, 20551181, 28694353", "complex_components": ["FNBP1L", "TJP1"], "pfam_ids": ["PF00611", "PF00018"], "domain_descriptions": ["FCH domain", "SH3 domain", "HR1 rho-binding domain", "AH/BAR domain superfamily", "F-BAR domain", "FNBP1L", "SH3 domain", "FNBP1L", "F-BAR domain", "SH3-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137942", "synonym": "C1ORF39, FLJ20275, TOCA1", "ortholog_mouse": "Fnbp1l", "ortholog_c_elegans": "toca-1, toca-2", "ortholog_xenopus": "fnbp1l", "ortholog_zebrafish": "fnbp1l", "ortholog_drosophila": "Cip4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0595, "sd_percent_ciliated": 0.0595, "z_score": 0.0595, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6228, "sd_percent_ciliated": -1.6228, "z_score": -1.6228, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FOS", "ensembl_id": "ENSG00000170345", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Fos proto-oncogene, AP-1 transcription factor subunit [Source:HGNC Symbol,Acc:HGNC:3796]", "omim_id": "164810", "functional_summary": "H2S induced oxidative stress leads to tracheal inflammation through FOS/IL8 sig ling, leading to excessive mucus secretion and absence of cilia ( 30684762).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3.0684762E7", "complex_components": ["FOS", "JUN", "SMAD3", "SMAD4", "NFATC2", "ERG", "ETS2", "MAZ", "ESR1", "FOXA1", "GATA3", "PRKDC", "RARA", "STAT1", "TFAP2C", "XRCC5", "XRCC6", "RARG", "AR", "THRA"], "pfam_ids": "PF00170", "domain_descriptions": ["AP-1 transcription factor", "Basic-leucine zipper domain", "Basic-leucine zipper domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000170345", "synonym": "AP-1, C-FOS", "ortholog_mouse": "Fos", "ortholog_xenopus": "fos", "ortholog_zebrafish": "fosaa, fosab", "ortholog_drosophila": "kay", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.4753, "sd_percent_ciliated": 14.6998, "z_score": 1.5103 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.466, "sd_percent_ciliated": 0.466, "z_score": 0.466 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.7912, "sd_percent_ciliated": -0.7912, "z_score": -0.7912 } ] }, { "gene": "FOXA1", "ensembl_id": "ENSG00000129514", "overexpression_effects": "Not Reported", "lof_effects": "Impaired ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "forkhead box A1 [Source:HGNC Symbol,Acc:HGNC:5021]", "omim_id": "602294", "functional_summary": "FOXA1 is a transcriptio l activator of Odf2, Foxa1 knockdown caused a decrease in ODF2 and CP110 proteins. Knockdown of FOXA1 affected primary cilia formation ( 36509813). Knockdown of FOXA1 affected primary cilia formation. FOXA1 regulates primary ciliation by transcriptional activation of ciliary genes. (36509813)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "3.6509813E7", "complex_components": ["ESR1", "FOS", "FOXA1", "GATA3", "PRKDC", "RARA", "STAT1", "TFAP2C", "XRCC5", "XRCC6", "RARG", "AR"], "pfam_ids": ["PF00250", "PF08430", "PF09354"], "domain_descriptions": ["Fork head domain", "Fork-head N-terminal", "Fork head domain conserved site1", "Forkhead box protein", "C-terminal", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000129514", "synonym": "HNF3A", "ortholog_mouse": "Foxa1", "ortholog_c_elegans": "pha-4", "ortholog_xenopus": "foxa1", "ortholog_zebrafish": "foxa1", "ortholog_drosophila": "fkh", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.9149, "sd_percent_ciliated": 6.5766, "z_score": 0.2309, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.924, "sd_percent_ciliated": 0.924, "z_score": 0.924, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2749, "sd_percent_ciliated": -4.2749, "z_score": -4.2749, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FOXA2", "ensembl_id": "ENSG00000125798", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "forkhead box A2 [Source:HGNC Symbol,Acc:HGNC:5022]", "omim_id": "600288", "functional_summary": "Foxa1, Foxa2, and Foxj1 were dy mically regulated after injury and restoration of the bronchiolar epithelium, the highest levels of expression being observed in ciliated cells and their derivatives early in the repair process ( 16239640).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Transcription regulation", "reference": "1.623964E7", "complex_components": {}, "pfam_ids": ["PF09354", "PF08430", "PF00250"], "domain_descriptions": ["Fork head domain", "Fork-head N-terminal", "Fork head domain conserved site1", "Forkhead box protein", "C-terminal", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000125798", "synonym": "HNF3B", "ortholog_mouse": "Foxa2", "ortholog_c_elegans": "pha-4", "ortholog_xenopus": "foxa2", "ortholog_zebrafish": "foxa2", "ortholog_drosophila": "fkh", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.6632, "sd_percent_ciliated": 16.1188, "z_score": 0.5639 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.07, "sd_percent_ciliated": 3.07, "z_score": 3.07 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.8467, "sd_percent_ciliated": -4.8467, "z_score": -4.8467 } ] }, { "gene": "FOXC2", "ensembl_id": "ENSG00000176692", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "forkhead box C2 [Source:HGNC Symbol,Acc:HGNC:3801]", "omim_id": "602402", "functional_summary": "The deletion of Ift46 in NCCs led to reduced Shh sig l activity in the periocular mesenchyme, sustained expression of key transcription factors Foxc1, Foxc2 and Pitx2, along with persistent cell proliferation ( 38517430).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "3.851743E7", "complex_components": {}, "pfam_ids": "PF00250", "domain_descriptions": ["Fork head domain", "Fork head domain conserved site1", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box protein C1/C2-like", "forkhead domain", "Forkhead box domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000176692", "synonym": "FKHL14, MFH-1", "ortholog_mouse": "Foxc2", "ortholog_xenopus": "foxc2", "ortholog_drosophila": "croc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 22.7, "sd_percent_ciliated": 22.7, "z_score": 22.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.9705, "sd_percent_ciliated": -3.9705, "z_score": -3.9705, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FOXF1", "ensembl_id": "ENSG00000103241", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "forkhead box F1 [Source:HGNC Symbol,Acc:HGNC:3809]", "omim_id": "601089", "functional_summary": "FoxF1 is required for ciliogenesis in vitro and in vivo and for the proper localization of Shh sig ling components in cilium ( 30950350). FoxF1 knockdown decreased the cilium length in NIH/3T3 cells. FoxF1 deficiency significantly reduced the number of ciliated cells and disrupted the distribution of SHH pathway components in cilia ((30950350)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Cardiac & muscle development", "reference": "3.095035E7", "complex_components": {}, "pfam_ids": "PF00250", "domain_descriptions": ["Fork head domain", "Fork head domain conserved site1", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box transcription regulator"], "string_link": "https://string-db.org/network/9606/ENSG00000103241", "synonym": "FKHL5, FREAC1", "ortholog_mouse": "Foxf1", "ortholog_c_elegans": "let-381", "ortholog_xenopus": "foxf1", "ortholog_zebrafish": "foxf1", "ortholog_drosophila": "bin", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.5524, "sd_percent_ciliated": 7.2327, "z_score": -0.1765, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.37, "sd_percent_ciliated": 2.37, "z_score": 2.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.306, "sd_percent_ciliated": -0.306, "z_score": -0.306, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FOXG1", "ensembl_id": "ENSG00000176165", "overexpression_effects": "Shorter", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Overexpression → decreased\nLoss → increased", "description": "forkhead box G1 [Source:HGNC Symbol,Acc:HGNC:3811]", "omim_id": "164874", "functional_summary": "FOXG1 syndrome neural progenitor cells have increased frequency of primary cilia. Engineered FOXG1 dose correlates with proliferation and frequency of primary cilia ( 35148845). Inducible FOXG1 expression reduces primary cilia and increases proliferation in neural progenitor cells. Loss of FOXG1 leads to increased primary cilia in forebrain neural progenitor cells (35148845)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Axon guidance & growth, Transcription regulation", "reference": "3.5148845E7", "complex_components": ["FOXG1", "FOXO3", "SMAD3", "SMAD4"], "pfam_ids": "PF00250", "domain_descriptions": ["Fork head domain", "Fork head domain conserved site1", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box protein G1"], "string_link": "https://string-db.org/network/9606/ENSG00000176165", "synonym": "BF1, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-3, HFK1, HFK2, HFK3, QIN", "ortholog_mouse": "Foxg1", "ortholog_c_elegans": "fkh-2", "ortholog_xenopus": "foxg1", "ortholog_zebrafish": "foxg1a", "ortholog_drosophila": "slp2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 22.9, "sd_percent_ciliated": 22.9, "z_score": 22.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9155, "sd_percent_ciliated": 1.9155, "z_score": 1.9155, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FOXI1", "ensembl_id": "ENSG00000168269", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "forkhead box I1 [Source:HGNC Symbol,Acc:HGNC:3815]", "omim_id": "601093", "functional_summary": "FOXI1 KO led to mature hiPSC-AEC epithelia without ionocytes with reduced capacity to produce ciliated cells(38664797). Functional assays reveal that FOXI1 KO leads to decreased numbers of ciliated cells in hiPSC-AECs.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "38664797 , https://www.researchgate.net/figure/Functional-assays-reveal-that-FOXI1-KO-leads-to-decreased-numbers-of-ciliated-cells-in_fig5_380101610", "complex_components": {}, "pfam_ids": "PF00250", "domain_descriptions": ["Fork head domain", "Fork head domain conserved site1", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000168269", "synonym": "FKHL10, FREAC6", "ortholog_mouse": "Foxi1", "ortholog_xenopus": "foxi1", "ortholog_zebrafish": "foxi1, foxi3a, foxi3b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.9953, "sd_percent_ciliated": 3.5773, "z_score": 0.8464 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.71, "sd_percent_ciliated": 1.71, "z_score": 1.71 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.0583, "sd_percent_ciliated": -2.0583, "z_score": -2.0583 } ] }, { "gene": "FOXJ1", "ensembl_id": "ENSG00000129654", "overexpression_effects": "Longer", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "forkhead box J1 [Source:HGNC Symbol,Acc:HGNC:3816]", "omim_id": "602291", "functional_summary": "Transcription factor that controls motile cilia formation ( 19011630). Activates the transcription of numerous known ciliary genes and specifically regulates motile cilia biogenesis ( 30881373). Regulation of programs promoting basal body docking and axoneme formation. Role of FOXJ1 in the differentiation of motile ciliated cells is modulated by the transcription factor Not homeobox (NOTO) and the regulatory factor X (RFX)- family ( 23822649) Transcription factor that controls motile cilia formation ( 19011630). Activates the transcription of numerous known ciliary genes and specifically regulates motile cilia biogenesis ( 30881373). Regulation of programs promoting basal body docking and axoneme formation. Role of FOXJ1 in the differentiation of motile ciliated cells is modulated by the transcription factor Not homeobox (NOTO) and the regulatory factor X (RFX)- family ( 23822649) In the presence of CSE … the average cilia length was significantly higher in Lenti-FOXJ1–infected cells (5.2 μm) than in Lenti-control–infected cells. (24828273) Suppressed Foxj1 expression has led to shorter cilia length in cilia cell cultures, whereas overexpression of exogenous Foxj1 reversed the effect. The level of Foxj1 was positively correlated to the airway cilia length, as patients with lower Foxj1 expression showed shorter cilia length(36929635)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Cell migration & adhesion, Transcription regulation, Cilia length regulation", "reference": "27864379, 31630787, 36929635, 24828273 ,31630787", "complex_components": {}, "pfam_ids": "PF00250", "domain_descriptions": ["Fork head domain", "Fork head domain conserved site1", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box protein J1", "forkhead domain", "Forkhead box protein J1"], "string_link": "https://string-db.org/network/9606/ENSG00000129654", "synonym": "FKHL13, HFH-4, HFH4", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Foxj1", "ortholog_xenopus": "foxj1", "ortholog_zebrafish": "foxj1a, foxj1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.8321, "sd_percent_ciliated": 13.8322, "z_score": 0.4632 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.264, "sd_percent_ciliated": 0.264, "z_score": 0.264 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.7575, "sd_percent_ciliated": -2.7575, "z_score": -2.7575 } ] }, { "gene": "FOXN4", "ensembl_id": "ENSG00000139445", "overexpression_effects": "Not Reported", "lof_effects": "Defective ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "forkhead box N4 [Source:HGNC Symbol,Acc:HGNC:21399]", "omim_id": "609429", "functional_summary": "Downstream target of Multicilin required for multiciliated cells differentiation (MCC). Complements Foxj1 transcriptio lly by co- activating Foxj1 target genes. Ensures robust gene expression during MCC differentiation, allowing large numbers of specialized organelles to be assembled. When Foxn4 activity is inhibited in Xenopus embryos, MCCs show transient ciliogenesis defects similar to those seen in mutants of Foxj1. Foxn4 promotes gene expression required for the formation of multiple motile cilia (27864379)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Muscle contraction & physiology", "reference": "30538248, 27864379", "complex_components": {}, "pfam_ids": "PF00250", "domain_descriptions": ["Fork head domain", "Fork head domain conserved site 2", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box protein N2/3-like", "Forkhead box protein N1/4"], "string_link": "https://string-db.org/network/9606/ENSG00000139445", "ortholog_mouse": "Foxn4", "ortholog_xenopus": "foxn4", "ortholog_zebrafish": "foxn4", "ortholog_drosophila": "jumu", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.8728, "z_score": 0.7449, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.2808, "z_score": 1.6079, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.6312 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5423, "z_score": -5.5423, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.5423 } ] }, { "gene": "FOXO1", "ensembl_id": "ENSG00000150907", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "forkhead box O1 [Source:HGNC Symbol,Acc:HGNC:3819]", "omim_id": "136533", "functional_summary": "Primary cilium modulates human decidualization through PTEN-PI3K-AKT-FOXO1 sig ling ( 36555215). Those values were reduced by more than 50% … While deletion of Foxo1 completely blocked the effect of AGEs stimulation on primary cilia number and length (37591875)", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3655521, 37591875", "complex_components": ["FHL2", "FOXO1", "SIRT1", "SMAD3", "SMAD4", "AKT1", "WDFY2", "ESR1", "APP", "AR", "RARA", "THRB", "PPIA"], "pfam_ids": ["PF16676", "PF16675", "PF00250"], "domain_descriptions": ["Fork head domain", "Fork head domain conserved site 2", "FOXO protein", "transactivation domain", "FOXO protein", "KIX-binding domain", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Forkhead box protein O1", "forkhead domain"], "string_link": "https://string-db.org/network/9606/ENSG00000150907", "synonym": "FKH1, FKHR, FOXO1A", "ortholog_mouse": "Foxo1", "ortholog_c_elegans": "daf-16", "ortholog_xenopus": "foxo1", "ortholog_zebrafish": "foxo1a, foxo1b", "ortholog_drosophila": "foxo", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.86, "sd_percent_ciliated": 3.86, "z_score": 3.86, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0651, "sd_percent_ciliated": -1.0651, "z_score": -1.0651, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FPR3", "ensembl_id": "ENSG00000187474", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "formyl peptide receptor 3 [Source:HGNC Symbol,Acc:HGNC:3828]", "functional_summary": "FPR3 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000187474", "synonym": "FMLPY, FPRH1, FPRL2, RMLP-R-I", "ortholog_mouse": "Fpr3", "ortholog_xenopus": "LOC100490494, LOC108648060, LOC108648117, LOC116412268, LOC116412269", "ortholog_zebrafish": "si:ch211-137j23.9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.328, "sd_percent_ciliated": 0.328, "z_score": 0.328, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "FRS2", "ensembl_id": "ENSG00000166225", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibroblast growth factor receptor substrate 2 [Source:HGNC Symbol,Acc:HGNC:16971]", "functional_summary": "Upon FGF10 stimulation, the activated FGFR2 initiates the downstream sig ling by phosphorylation (p) of FRS2, MEK1, ERK1/2, and p38(MAPK14 ) within the cilium, which results in transcription of the target genes(40257378).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "4.0257378E7", "complex_components": {}, "pfam_ids": "PF02174", "domain_descriptions": ["IRS-type PTB domain", "PH-like domain superfamily", "FRS2", "PTB domain", "Docking Protein Family (DOK)"], "string_link": "https://string-db.org/network/9606/ENSG00000166225", "synonym": "FRS2A, FRS2ALPHA, SNT-1, SNT1", "ortholog_mouse": "Frs2", "ortholog_c_elegans": "rog-1", "ortholog_xenopus": "frs2", "ortholog_zebrafish": "frs2a, frs2b", "ortholog_drosophila": "CG13398", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.0165, "sd_percent_ciliated": 4.1475, "z_score": -1.3318 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.69, "sd_percent_ciliated": 5.69, "z_score": 5.69 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.8538, "sd_percent_ciliated": 0.8538, "z_score": 0.8538 } ] }, { "gene": "FSCB", "ensembl_id": "ENSG00000189139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fibrous sheath CABYR binding protein [Source:HGNC Symbol,Acc:HGNC:20494]", "omim_id": "611779", "functional_summary": "FSCB serum recognized with an intense sig l the entire length of the principal piece of both non-fixed, air dried and methanol-fixed non-capacitated sperm by indirect immunofluorescence microscopy (17855365).", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "1.7855365E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000189139", "synonym": "C14ORF155, DKFZP434F1017", "ortholog_mouse": "Fscb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.21, "sd_percent_ciliated": 2.21, "z_score": 2.21, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "FSCN2", "ensembl_id": "ENSG00000186765", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "fascin actin-bundling protein 2, retinal [Source:HGNC Symbol,Acc:HGNC:3960]", "omim_id": "607643", "functional_summary": "Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa(PMID: 11527955).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "11527955 ,11527955", "complex_components": {}, "pfam_ids": "PF06268", "domain_descriptions": ["Actin-crosslinking", "Fascin", "Fascin-like domain", "Fascin", "metazoans"], "string_link": "https://string-db.org/network/9606/ENSG00000186765", "synonym": "RFSN, RP30", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Fscn2", "ortholog_xenopus": "fscn2", "ortholog_zebrafish": "fscn2a, fscn2b", "ortholog_drosophila": "sn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.9996, "sd_percent_ciliated": 6.7087, "z_score": -1.2127 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.548, "sd_percent_ciliated": 0.548, "z_score": 0.548 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.1282, "sd_percent_ciliated": 0.1282, "z_score": 0.1282 } ] }, { "gene": "FSD1", "ensembl_id": "ENSG00000105255", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "fibronectin type III and SPRY domain containing 1 [Source:HGNC Symbol,Acc:HGNC:13745]", "omim_id": "609828", "functional_summary": "Anchors asters to interphase centrosomes by directly binding to mother centriole, and controls transition zone assembly during ciliogenesis. FSD1 knockdown causes defective ciliogenesis and affects embryonic development in vertebrates (30538248)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "30137358, 30867909,30538248,", "complex_components": {}, "pfam_ids": ["PF00041", "PF00622"], "domain_descriptions": ["B30.2/SPRY domain", "B-box", "C-terminal", "SPRY domain", "Fibronectin type III", "Concanavalin A-like lectin/glucanase domain superfamily", "Immunoglobulin-like fold", "COS domain", "Fibronectin type III and SPRY containing 1", "PRY/SPRY domain", "Fibronectin type III superfamily", "B30.2/SPRY domain superfamily", "E3 ubiquitin-protein ligases and FN3/SPRY domain-containing proteins"], "string_link": "https://string-db.org/network/9606/ENSG00000105255", "synonym": "MGC3213, MIR1", "ortholog_mouse": "Fsd1", "ortholog_xenopus": "fsd1", "ortholog_zebrafish": "fsd1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.7704, "sd_percent_ciliated": 3.7656, "z_score": 1.0615, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.07, "sd_percent_ciliated": 1.07, "z_score": 1.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.5988, "sd_percent_ciliated": 2.5988, "z_score": 2.5988, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FSIP2", "ensembl_id": "ENSG00000188738", "overexpression_effects": "Not Reported", "lof_effects": "Shorter (sperm flagella; MMAF)", "percent_ciliated_cells_effects": "Not Reported", "description": "fibrous sheath interacting protein 2 [Source:HGNC Symbol,Acc:HGNC:21675]", "omim_id": "615796", "functional_summary": "Major structural protein of the fibrous sheath (FS) shown to bind to AKAP4, required for FS assembly. Regulaties PKA anchoring to AKAP4. Involved in the control of sperm flagellum elasticity and sig ling pathways that regulate sperm motility. Mutations in FSIP2 are a recurrent cause of multiple morphological abnormalities of the sperm flagella. All spermatozoa from patients FSIP2_3 and FSIP2_4 have shorter flagella than controls. (30137358)", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "28852127, 30137358", "complex_components": {}, "pfam_ids": "PF15783", "domain_descriptions": ["Fibrous sheath-interacting protein 2", "C-terminal", "Fibrous sheath-interacting protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000188738", "synonym": "FLJ34780", "ortholog_mouse": "Fsip2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.0841, "sd_percent_ciliated": 5.7078, "z_score": -0.4756, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.34, "sd_percent_ciliated": 4.34, "z_score": 4.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "FSTL1", "ensembl_id": "ENSG00000163430", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "follistatin like 1 [Source:HGNC Symbol,Acc:HGNC:3972]", "omim_id": "605547", "functional_summary": "Novel regulator of ciliogenesis in a non-cell autonomous manner due to its activity as a BMP4 inhibitor. BBS4 regulates the cellular trafficking of FSTL1. FSTL1 promotes primary cilia formation (fstl1a in zebrafish). Knockdown or mutation reduces ciliogenesis. BBS4 / IFT88 knockdown reduces FSTL1 levels, suggesting regulatory loop. FSTL1 promotes primary cilia formation (fstl1a in zebrafish). Knockdown or mutation reduces ciliogenesis. BBS4 / IFT88 knockdown reduces FSTL1 levels, suggesting regulatory loop. (28852127)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "22778277, 28852127", "complex_components": {}, "pfam_ids": ["PF23564", "PF09289", "PF07648", "PF23244"], "domain_descriptions": ["EF-hand domain", "Kazal domain", "Follistatin-like", "N-terminal", "EF-hand domain pair", "Follistatin/Osteonectin EGF domain", "Kazal domain superfamily", "Protease Inhibitors and Growth Factor Antagonists", "Follistatin-related protein 1", "EF-hand domain pair"], "string_link": "https://string-db.org/network/9606/ENSG00000163430", "synonym": "FRP, FSL1, OCC-1, OCC1, TSC36", "ortholog_mouse": "Fstl1", "ortholog_xenopus": "fstl1", "ortholog_zebrafish": "fstl1a, fstl1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5997, "sd_percent_ciliated": 0.6113, "z_score": 0.3138 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8086, "sd_percent_ciliated": -1.8086, "z_score": -1.8086 } ] }, { "gene": "FTO", "ensembl_id": "ENSG00000140718", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "FTO alpha-ketoglutarate dependent dioxygenase [Source:HGNC Symbol,Acc:HGNC:24678]", "omim_id": "610966", "functional_summary": "Fto knockout mice display aberrant tissue specific cilia. These data identify FTO as a protein-regulator of the balanced activation between canonical and non-canonical branches of the Wnt pathway ( 24503721). R demethylation by FTO stabilizes the FOXJ1 mR for proper motile ciliogenesis ( 33761320).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, ECM & connective tissue", "reference": "24503721 , 33761320", "complex_components": ["FTO", "TRMT10A"], "pfam_ids": ["PF12934", "PF12933"], "domain_descriptions": ["Alpha-ketoglutarate-dependent dioxygenase FTO", "C-terminal", "Alpha-ketoglutarate-dependent dioxygenase FTO", "catalytic domain", "Alpha-ketoglutarate-dependent dioxygenase FTO", "Alpha-ketoglutarate-dependent dioxygenase AlkB-like superfamily", "FTO", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000140718", "synonym": "ALKBH9, IFEX9, KIAA1752, MGC5149", "ortholog_mouse": "Fto", "ortholog_xenopus": "fto", "ortholog_zebrafish": "fto", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.766, "sd_percent_ciliated": 8.7468, "z_score": -0.8776 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.466, "sd_percent_ciliated": 0.466, "z_score": 0.466 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.0399, "sd_percent_ciliated": 2.0399, "z_score": 2.0399 } ] }, { "gene": "FUT8", "ensembl_id": "ENSG00000033170", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "fucosyltransferase 8 [Source:HGNC Symbol,Acc:HGNC:4019]", "omim_id": "602589", "functional_summary": "FUT8 interacts with transmembrane protein 67 (TMEM67), a transition zone component closely linked to ciliopathies, and catalyzes its core fucosylation(PMID: 40728580). Core fucosylation by FUT8 maintains TMEM67 stability and promotes ciliogenesis; FUT8 deficiency leads to defective cilia formation characterized by reduced ciliary length and fewer ciliated cells. (40728580)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "4.072858E7", "complex_components": {}, "pfam_ids": ["PF14604", "PF19745"], "domain_descriptions": ["SH3 domain", "Alpha-(1", "6)-fucosyltransferase", "Glycosyltransferase family 23 (GT23) domain", "Alpha-(1", "6)-fucosyltransferase", "SH3 domain", "SH3-like domain superfamily", "Alpha-(1", "6)-fucosyltransferase", "N- and catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000033170", "ortholog_mouse": "Fut8", "ortholog_c_elegans": "fut-8", "ortholog_xenopus": "fut8", "ortholog_zebrafish": "fut8a, fut8b", "ortholog_drosophila": "FucT6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.3943, "sd_percent_ciliated": 8.2845, "z_score": -0.5591 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0736, "sd_percent_ciliated": 0.0736, "z_score": 0.0736 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6334, "sd_percent_ciliated": -1.6334, "z_score": -1.6334 } ] }, { "gene": "FUZ", "ensembl_id": "ENSG00000010361", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "fuzzy planar cell polarity protein [Source:HGNC Symbol,Acc:HGNC:26219]", "omim_id": "610622", "functional_summary": "Critical regulator of cilia structure and function. Trafficking and localisation of retrograde, but not anterograde, intraflagellar transport proteins, governing their traffic from the cytoplasm to the basal body and then to the ciliary tip, representing a role in maintaining ciliary trafficking to the distal axoneme (22778277). FUZ is required for normal ciliogenesis; regulates trafficking and actin dynamics at basal body (via ARHGAP35). Fuz⁻/⁻ mutants have fewer and shorter cilia. (19767740)", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "24226769, 19767740 ,20962855", "complex_components": {}, "pfam_ids": ["PF19037", "PF19038", "PF19036"], "domain_descriptions": ["Fuzzy protein", "FUZ/MON1/HPS1", "third Longin domain", "FUZ/MON1/HPS1", "second Longin domain", "FUZ/MON1/HPS1", "first Longin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000010361", "synonym": "CPLANE3, FLJ22688, FY", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Fuz", "ortholog_xenopus": "fuz", "ortholog_zebrafish": "fuz", "ortholog_drosophila": "fy", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 181, "sd_percent_ciliated": 181, "z_score": 181, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4279, "sd_percent_ciliated": 0.4279, "z_score": 0.4279, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FYB2", "ensembl_id": "ENSG00000187889", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "FYN binding protein 2 [Source:HGNC Symbol,Acc:HGNC:27295]", "omim_id": "618478", "functional_summary": "FYB2 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14603", "domain_descriptions": ["SH3 domain", "Helically-extended SH3 domain", "SH3-like domain superfamily", "FYN-binding protein 1/2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000187889", "synonym": "ARAP, C1ORF168, FLJ43208, RP4-758N20.2", "ortholog_mouse": "Fyb2", "ortholog_xenopus": "fyb2", "ortholog_zebrafish": "si:ch211-188c16.1", "screens": {} }, { "gene": "FZD2", "ensembl_id": "ENSG00000180340", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "frizzled class receptor 2 [Source:HGNC Symbol,Acc:HGNC:4040]", "omim_id": "600667", "functional_summary": "FZD2 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF01392", "PF01534"], "domain_descriptions": ["Frizzled/Smoothened", "7TM", "Frizzled/secreted frizzled-related protein", "GPCR", "family 2-like", "7TM", "Frizzled domain", "Frizzled cysteine-rich domain superfamily", "Frizzled 2", "cysteine-rich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000180340", "ortholog_mouse": "Fzd2", "ortholog_c_elegans": "mom-5", "ortholog_xenopus": "fzd2", "ortholog_zebrafish": "fzd2", "ortholog_drosophila": "fz", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.2823, "sd_percent_ciliated": 0.5021, "z_score": -0.0881, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.486, "sd_percent_ciliated": 0.486, "z_score": 0.486, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.7272, "sd_percent_ciliated": -6.7272, "z_score": -6.7272, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "FZD3", "ensembl_id": "ENSG00000104290", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "frizzled class receptor 3 [Source:HGNC Symbol,Acc:HGNC:4041]", "omim_id": "606143", "functional_summary": "Pla r cell polarity (PCP) proteins are known to organize microtubule polarization, which establishes the pla r polarity of cells (25124458). During Wnt sig ling, a Wnt ligand binds to the seven-pass transmembrane receptor Fzd, which then recruits a scaffold protein Dvl that induces downstream sig ling (17884187). Fzd-3 localized at primary cilia of both mouse embryonic fibroblasts (MEFs) , indicating that Wnt sig ling may be regulated directly by activation of receptors in the cilium, and that ciliary targeting of Fzd-3 is independent of Inversin(23593172).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "25124458 , 17884187 , 23593172", "complex_components": {}, "pfam_ids": ["PF01392", "PF01534"], "domain_descriptions": ["Frizzled/Smoothened", "7TM", "Frizzled/secreted frizzled-related protein", "GPCR", "family 2-like", "7TM", "Frizzled domain", "Frizzled cysteine-rich domain superfamily", "Frizzled 3", "cysteine-rich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000104290", "synonym": "FZ-3", "ortholog_mouse": "Fzd3", "ortholog_c_elegans": "mom-5", "ortholog_xenopus": "fzd3", "ortholog_zebrafish": "fzd3a, fzd3b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.2545, "sd_percent_ciliated": 6.3526, "z_score": -0.5761 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.547, "sd_percent_ciliated": 0.547, "z_score": 0.547 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.5045, "sd_percent_ciliated": -4.5045, "z_score": -4.5045 } ] }, { "gene": "FZD4", "ensembl_id": "ENSG00000174804", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "frizzled class receptor 4 [Source:HGNC Symbol,Acc:HGNC:4042]", "omim_id": "604579", "functional_summary": "FZD4 has localized in primary cilia. Localizes to primary cilium in human cells (according to HPA). However, spatial proteomics atlas classifies it among proteins with no cilia annotation. (41005307)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273 , 41005307", "complex_components": ["FZD4", "LRP5", "NDP", "TSPAN12"], "pfam_ids": ["PF01392", "PF01534"], "domain_descriptions": ["Frizzled/Smoothened", "7TM", "Frizzled/secreted frizzled-related protein", "GPCR", "family 2-like", "7TM", "Frizzled domain", "Frizzled-4", "7TM", "Frizzled cysteine-rich domain superfamily", "Frizzled 4", "cysteine-rich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000174804", "synonym": "CD344, EVR1", "ortholog_mouse": "Fzd4", "ortholog_c_elegans": "cfz-2, lin-17", "ortholog_xenopus": "fzd4", "ortholog_zebrafish": "fzd4", "ortholog_drosophila": "fz4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.3483, "sd_percent_ciliated": 0.4709, "z_score": -0.2012 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9248, "sd_percent_ciliated": -5.9248, "z_score": -5.9248 } ] }, { "gene": "FZD6", "ensembl_id": "ENSG00000164930", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "frizzled class receptor 6 [Source:HGNC Symbol,Acc:HGNC:4044]", "omim_id": "603409", "functional_summary": "FZD6 has localized in basal body. Cytoplasmic Dynein Functions in Planar Polarization of Basal Bodies within Ciliated Cells (32535020)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273 , 41005307, 32535020", "complex_components": {}, "pfam_ids": ["PF01534", "PF01392"], "domain_descriptions": ["Frizzled/Smoothened", "7TM", "Frizzled/secreted frizzled-related protein", "GPCR", "family 2-like", "7TM", "Frizzled domain", "Frizzled-6", "7TM", "Frizzled cysteine-rich domain superfamily", "Frizzled 6", "cysteine-rich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000164930", "synonym": "HFZ6", "ortholog_mouse": "Fzd6", "ortholog_c_elegans": "mom-5", "ortholog_xenopus": "fzd6", "ortholog_zebrafish": "fzd6", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.7437, "z_score": -1.6332, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.9568, "z_score": -2.3083, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.3977 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.448, "z_score": 0.448, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.448 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5817, "z_score": -0.5817, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.5817 } ] }, { "gene": "FZD8", "ensembl_id": "ENSG00000177283", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "frizzled class receptor 8 [Source:HGNC Symbol,Acc:HGNC:4046]", "omim_id": "606146", "functional_summary": "FZD8 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF01534", "PF01392"], "domain_descriptions": ["Frizzled/Smoothened", "7TM", "Frizzled/secreted frizzled-related protein", "GPCR", "family 2-like", "7TM", "Frizzled domain", "Frizzled cysteine-rich domain superfamily", "Frizzled 8", "cysteine-rich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000177283", "synonym": "FZ-8", "ortholog_mouse": "Fzd8", "ortholog_c_elegans": "cfz-2", "ortholog_xenopus": "fzd8", "ortholog_zebrafish": "fzd8a, fzd8b", "ortholog_drosophila": "fz2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.0827, "sd_percent_ciliated": 8.0753, "z_score": -0.1123 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.617, "sd_percent_ciliated": 0.617, "z_score": 0.617 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.1949, "sd_percent_ciliated": -7.1949, "z_score": -7.1949 } ] }, { "gene": "G3BP1", "ensembl_id": "ENSG00000145907", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "G3BP stress granule assembly factor 1 [Source:HGNC Symbol;Acc:HGNC:30292]", "omim_id": "608431", "functional_summary": "G3BP1 and G3BP2 do not affect cilium formation but regulate cilium length. In addition, the extent of cilium elongation in G3BP dKO cells was greater than that in G3BP1 KO or G3BP2 KO cells , suggesting that both G3BP1 and G3BP2 may regulate cilium elongation in parallel(38088586).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions", "reference": "3.8088586E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000145907", "synonym": "G3BP; HDH-VIII", "ortholog_mouse": "G3bp1", "ortholog_c_elegans": "gtbp-1", "ortholog_xenopus": "g3bp1", "ortholog_zebrafish": "g3bp1", "ortholog_drosophila": "rin", "screens": [] }, { "gene": "G3BP2", "ensembl_id": "ENSG00000138757", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "G3BP stress granule assembly factor 2 [Source:HGNC Symbol;Acc:HGNC:30291]", "omim_id": "620020", "functional_summary": "G3BP1 and G3BP2 do not affect cilium formation but regulate cilium length. In addition, the extent of cilium elongation in G3BP dKO cells was greater than that in G3BP1 KO or G3BP2 KO cells , suggesting that both G3BP1 and G3BP2 may regulate cilium elongation in parallel(38088586).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.8088586E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000138757", "synonym": "KIAA0660", "ortholog_mouse": "G3bp2", "ortholog_c_elegans": "gtbp-1", "ortholog_xenopus": "g3bp2", "ortholog_zebrafish": "g3bp2a, g3bp2b", "ortholog_drosophila": "rin", "screens": [] }, { "gene": "G6PC1", "ensembl_id": "ENSG00000131482", "overexpression_effects": "Not Reported", "lof_effects": "Cilium defects / altered morphology", "percent_ciliated_cells_effects": "Not Reported", "description": "glucose-6-phosphatase catalytic subunit 1 [Source:HGNC Symbol,Acc:HGNC:4056]", "omim_id": "613742", "functional_summary": "G6PC1 has localized in flagella. Primary cilium defects were observed in the kidneys of GSDIa mice. (39141438)", "localization": "flagella", "functional_category": "Metabolism, Transcription regulation", "reference": "https://www.proteinatlas.org/, 39141438", "complex_components": {}, "pfam_ids": "PF01569", "domain_descriptions": ["Phosphatidic acid phosphatase type 2/haloperoxidase", "Glucose-6-phosphatase", "Phosphatidic acid phosphatase type 2/haloperoxidase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000131482", "synonym": "G6PC, G6PT, GSD1A", "ortholog_mouse": "G6pc1", "ortholog_xenopus": "g6pc1, g6pc1.2, g6pc1.3", "ortholog_zebrafish": "g6pc1a.1, g6pc1a.2, g6pc1b", "ortholog_drosophila": "G6p", "screens": {} }, { "gene": "GABARAPL1", "ensembl_id": "ENSG00000139112", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GABA type A receptor associated protein like 1 [Source:HGNC Symbol,Acc:HGNC:4068]", "omim_id": "607420", "functional_summary": "GABARAPL1 has localized in basal body.", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02991", "domain_descriptions": ["Autophagy protein Atg8 ubiquitin-like", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000139112", "synonym": "APG8L, ATG8B, ATG8L, GEC1", "ortholog_mouse": "Gabarapl1", "ortholog_c_elegans": "lgg-1", "ortholog_xenopus": "gabarapl1", "ortholog_zebrafish": "zgc:92606", "ortholog_drosophila": "Atg8b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.7999, "sd_percent_ciliated": 4.7259, "z_score": 0.3381 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.64, "sd_percent_ciliated": 2.64, "z_score": 2.64 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.1165, "sd_percent_ciliated": -6.1165, "z_score": -6.1165 } ] }, { "gene": "GABBR1", "ensembl_id": "ENSG00000232632", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "gamma-aminobutyric acid type B receptor subunit 1 [Source:HGNC Symbol,Acc:HGNC:4070]", "omim_id": "603540", "functional_summary": "GABBR1 has localized in basal body. GABAB1 receptors are strongly enriched at the base of the cilium, but are mobilized to more distal locations upon agonist binding (36350286)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 , 36350286", "complex_components": ["Gabbr1", "Gabbr2", "GABBR1", "GABBR2", "GRM1", "CASR", "CNIH4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000232632", "synonym": "GPRC3A, HGB1A", "ortholog_mouse": "Gabbr1", "ortholog_c_elegans": "gbb-1", "ortholog_xenopus": "gabbr1", "ortholog_zebrafish": "gabbr1a, gabbr1b", "ortholog_drosophila": "GABA-B-R1", "screens": {} }, { "gene": "GABRA1", "ensembl_id": "ENSG00000022355", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "gamma-aminobutyric acid type A receptor subunit alpha1 [Source:HGNC Symbol,Acc:HGNC:4075]", "omim_id": "137160", "functional_summary": "Neuronal cilia dataset contained eight subspecific GABA receptors that include the GABAA receptors, GABRG2 and GABRA1, and the GABAB receptor, GABBR1(PMID: 40623838).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "40623838 ,11992121", "complex_components": ["GABRA1", "GABRB2", "GABRG2", "GABRD"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000022355", "synonym": "EJM5", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gabra1", "ortholog_c_elegans": "lgc-36, lgc-37", "ortholog_xenopus": "gabra1", "ortholog_zebrafish": "gabra1", "ortholog_drosophila": "CG8916, Grd", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.9884, "sd_percent_ciliated": 16.3316, "z_score": 1.0879, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.249, "sd_percent_ciliated": 0.249, "z_score": 0.249, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6212, "sd_percent_ciliated": 0.6212, "z_score": 0.6212, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GABRD", "ensembl_id": "ENSG00000187730", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "gamma-aminobutyric acid type A receptor subunit delta [Source:HGNC Symbol,Acc:HGNC:4084]", "omim_id": "137163", "functional_summary": "Mutations in the GABRD gene cause Juvenile Myoclonic Epilepsy (PMID: 15115768). All four tested proteins exhibit … ciliary localization of a two-foci pattern along the neuronal cilium (38187761)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15115768, 38187761 ,15115768", "complex_components": ["GABRA1", "GABRB2", "GABRD"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000187730", "synonym": "GABAARDELTA", "ciliopathy": "Juvenile Myoclonic Epilepsy", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gabrd", "ortholog_c_elegans": "unc-49", "ortholog_xenopus": "gabrd", "ortholog_zebrafish": "gabrd", "ortholog_drosophila": "Rdl", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.4711, "z_score": 0.6195, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 61.6211, "z_score": 2.8607, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.5473 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.66, "z_score": 3.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.66 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6897, "z_score": -1.6897, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.6897 } ] }, { "gene": "GABRG2", "ensembl_id": "ENSG00000113327", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "gamma-aminobutyric acid type A receptor subunit gamma2 [Source:HGNC Symbol,Acc:HGNC:4087]", "omim_id": "137164", "functional_summary": "GABRG2 showed a consistent, punctate signal throughout the cilium in mouse primary cortical neurons (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "4.0623838E7", "complex_components": ["GABRA1", "GABRB2", "GABRG2"], "pfam_ids": ["PF02932", "PF02931"], "domain_descriptions": ["Gamma-aminobutyric acid receptor subunit gamma-1/4", "Gamma-aminobutyric acid A receptor/Glycine receptor alpha", "Neurotransmitter-gated ion-channel transmembrane domain", "Neurotransmitter-gated ion-channel", "Neurotransmitter-gated ion-channel transmembrane domain superfamily", "Neurotransmitter-gated ion-channel ligand-binding domain superfamily", "Neuronal acetylcholine receptor", "Neurotransmitter-gated ion-channel ligand-binding domain", "Neurotransmitter-gated ion-channel", "conserved site", "Gamma-aminobutyric-acid A receptor", "alpha subunit", "Gamma-aminobutyric-acid A receptor", "gamma 2 subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000113327", "ortholog_mouse": "Gabrg2", "ortholog_c_elegans": "lgc-37", "ortholog_xenopus": "gabrg2", "ortholog_zebrafish": "gabrg2", "ortholog_drosophila": "CG8916", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.2352, "sd_percent_ciliated": 0.2747, "z_score": -0.5784 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.602, "sd_percent_ciliated": 0.602, "z_score": 0.602 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6448, "sd_percent_ciliated": -5.6448, "z_score": -5.6448 } ] }, { "gene": "GALNT11", "ensembl_id": "ENSG00000178234", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "polypeptide N-acetylgalactosaminyltransferase 11 [Source:HGNC Symbol,Acc:HGNC:19875]", "omim_id": "615130", "functional_summary": "Candidate disease gene in heterotaxy. Modifies Notch to establish an essential balance between motile and immotile cilia at the left-right organiser, necessary to determine laterality. Galnt11 (or notch1) depletion increases the ratio of motile cilia at the expense of immotile cilia (24226769) Manipulations of Galnt11 altered the density of ciliated epidermal cells (", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "26167768, 24226769 ,24226769", "complex_components": {}, "pfam_ids": ["PF00652", "PF00535"], "domain_descriptions": ["Ricin B", "lectin domain", "Glycosyltransferase 2-like", "Nucleotide-diphospho-sugar transferases", "Ricin B-like lectins", "N-acetylgalactosaminyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000178234", "synonym": "GALNAC-T11", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Galnt11", "ortholog_c_elegans": "gly-11", "ortholog_xenopus": "galnt11", "ortholog_zebrafish": "galnt11", "ortholog_drosophila": "Pgant35A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.0893, "sd_percent_ciliated": 1.894, "z_score": 0.8578 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.311, "sd_percent_ciliated": 0.311, "z_score": 0.311 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.3616, "sd_percent_ciliated": -10.3616, "z_score": -10.3616 } ] }, { "gene": "GALR2", "ensembl_id": "ENSG00000182687", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "galanin receptor 2 [Source:HGNC Symbol,Acc:HGNC:4133]", "omim_id": "603691", "functional_summary": "Neuro l ciliary GPCR. Galanin receptor. GALR2 is annotated to localize to the primary cilium, primary cilium tip, and primary cilium transition zone (HPA)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "26167768, https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Galanin receptor family", "Galanin receptor 2", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000182687", "synonym": "GALNR2", "ortholog_mouse": "Galr2", "ortholog_c_elegans": "npr-9", "ortholog_xenopus": "galr2", "ortholog_zebrafish": "galr2a, galr2b", "ortholog_drosophila": "AstA-R1, AstA-R2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.774, "sd_percent_ciliated": 2.1329, "z_score": 0.5773, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.0331, "sd_percent_ciliated": -7.0331, "z_score": -7.0331, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GALR3", "ensembl_id": "ENSG00000128310", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "galanin receptor 3 [Source:HGNC Symbol,Acc:HGNC:4134]", "omim_id": "603692", "functional_summary": "GALR3 localizes to the primary cilium, cilium tip, and cilium transition zone (HPA)", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "30665704, https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Galanin receptor family", "Galanin receptor 3", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000128310", "ortholog_mouse": "Galr3", "ortholog_c_elegans": "npr-9", "ortholog_xenopus": "galr3", "ortholog_zebrafish": "galr2b", "ortholog_drosophila": "AstA-R1, AstA-R2", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6826, "sd_percent_ciliated": -2.6826, "z_score": -2.6826, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GANAB", "ensembl_id": "ENSG00000089597", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "glucosidase II alpha subunit [Source:HGNC Symbol,Acc:HGNC:4138]", "omim_id": "104160", "functional_summary": "Mutations in the GANAB gene cause Autosomal Dominant Polycystic Kidney Disease (PMID: 27259053). From the genetic studies, mutations in GANAB were shown to be a cause of ADPKD and ADPLD, so we next explored the mechanism of pathogenesis by cellular analysis. CRISPR/Cas9 targeting of GANAB exon 12 in human RCTE cells generated clones with biallelic frameshift mutations (null; clone C6) or a single in-frame deletion (heterozygous; E4) (Figures S4A–S4D). Analysis of the polycystin complex immunocaptured with PC2 or PC1-CT antibodies in GANAB−/− cells showed that the PC1 N-terminal, mature product (PC1-NTR) was absent (Figures 4A and 4B). In contrast, full-length (GPS-uncleaved) PC1, PC1-NTS, and PC2 were elevated, indicating that GIIα plays a major role in PC1 maturation. We previously showed an interdependence of PC1 and PC2 for localization, including to cilia,15 and so to assess localization of the polycystin complex, we analyzed PC2. Ciliary localization of PC2 was completely absent in GANAB−/− cells, although cilia formed normally (Figure 4C and Figure S4E).15, 16 Given that affected individuals harbored just one GANAB mutation, we assayed GANAB+/− cells and found a proportional, ∼50%, depletion of PC1-NTR (Figures 4D and 4E). Analysis of the maturation of other membrane proteins (epidermal growth factor receptor [EGFR] and E-cadherin) showed that they were not (or only mildly) affected by loss of GIIα (Figure 4A). (27259053)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27259053, 27259053 ,27259053", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000089597", "synonym": "G2AN, GIIA, GIIALPHA, GLUII, KIAA0088", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ganab", "ortholog_c_elegans": "aagr-3, aagr-4", "ortholog_xenopus": "ganab", "ortholog_zebrafish": "ganaba, ganabb", "ortholog_drosophila": "GCS2α", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5968, "sd_percent_ciliated": 4.7153, "z_score": -0.4134, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.28, "sd_percent_ciliated": 1.28, "z_score": 1.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8605, "sd_percent_ciliated": -1.8605, "z_score": -1.8605, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GAP43", "ensembl_id": "ENSG00000172020", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "growth associated protein 43 [Source:HGNC Symbol,Acc:HGNC:4140]", "omim_id": "162060", "functional_summary": "The B50/GAP43 protein is present throughout the receptor neuron, including the perikaryon, sy ptic projections of these neurons in the olfactory bulb, the proximal portion of the olfactory cilia, the dendritic process, and the axon(2918383).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "2918383.0", "complex_components": {}, "pfam_ids": ["PF10580", "PF06614", "PF00612"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Neuromodulin (GAP-43)", "Neuromodulin (GAP-43)", "C-terminal", "Neuromodulin", "palmitoylation site", "Neuromodulin gap junction N-terminal", "Neuromodulin", "phosphorylation site"], "string_link": "https://string-db.org/network/9606/ENSG00000172020", "synonym": "B-50, GAP-43, PP46", "ortholog_mouse": "Gap43", "ortholog_xenopus": "gap43", "ortholog_zebrafish": "gap43", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.0163, "sd_percent_ciliated": 4.6667, "z_score": -0.1203 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.1236, "sd_percent_ciliated": 0.1236, "z_score": 0.1236 } ] }, { "gene": "GARRE1", "ensembl_id": "ENSG00000282735", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "granule associated Rac and RHOG effector 1 [Source:HGNC Symbol,Acc:HGNC:29016]", "omim_id": "619335", "functional_summary": "MiniBAR (also known as KIAA0355/GARRE1) is a dual Rab/Rac effector with a truncated BAR domain. MiniBAR promotes cilia elongation by controlling the delivery of ciliary cargos. MiniBAR also determines cilia length by limiting cellular acto-myosin contractility. MiniBAR depletion leads to left-right asymmetry defects and signs of ciliopathy in vivo.48 h after induction of ciliogenesis, the proportion of ciliated cells was modestly but reproducibly decreased upon MiniBAR depletion. Importantly, cilia length was significantly reduced (37875118).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cilia length regulation", "reference": "3.7875118E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000282735", "synonym": "KIAA0355, MINIBAR", "ortholog_mouse": "Garre1", "ortholog_xenopus": "garre1", "screens": {} }, { "gene": "GAS2L2", "ensembl_id": "ENSG00000270765", "overexpression_effects": "Not Reported", "lof_effects": "Shorter vector / orientation defect", "percent_ciliated_cells_effects": "Not Reported", "description": "growth arrest specific 2 like 2 [Source:HGNC Symbol,Acc:HGNC:24846]", "omim_id": "611398", "functional_summary": "Alignment of basal bodies. Mediation of the crosstalk between , actin filaments, and the basal body. Mutations cause poorly aligned cilia, hyperkinetic ciliary beat, and primary ciliary dyskinesia. The average length of the vector was significantly shorter in GAS2L2-deficient nasal ciliated cells than in control cells. (30665704)", "localization": "basal body , cilia,, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27472056, 21659505, 30665704, 30665704 ,30665704", "complex_components": ["ADORA2A", "GAS2L2"], "pfam_ids": ["PF00307", "PF02187"], "domain_descriptions": ["Calponin homology domain", "GAR domain", "GAR domain superfamily", "CH domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000270765", "synonym": "GAR17", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gas2l2", "ortholog_xenopus": "gas2l2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.85, "sd_percent_ciliated": 1.85, "z_score": 1.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2405, "sd_percent_ciliated": -1.2405, "z_score": -1.2405, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GAS8", "ensembl_id": "ENSG00000141013", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "growth arrest specific 8 [Source:HGNC Symbol,Acc:HGNC:4166]", "omim_id": "605178", "functional_summary": "Role in ciliary motility. Implicated in the Hh sig ling pathway by binding to Smo and regulating its traficking into the cilium (21659505). Mutations are associated with human disease as a cause of severe PCD phenotypes (27472056). GAS8 is required for motile cilia function. Loss of GAS8 causes shorter and structurally abnormal cilia. It interacts with the dynein regulatory complex and regulates Hedgehog signaling via Smoothened localization. (27472056, 21659505)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "21209912, 26387594, 27472056, 21659505) ,26387594", "complex_components": ["Bop1", "CDK11B", "Cebpz", "Ddx18", "Ddx21", "Ddx24", "Ddx27", "Ddx5", "Ddx56", "DHX15", "Ebna1bp2", "Eef1g", "Fbl", "Fn1", "Ftsj3", "GAS8", "Gnl2", "Gtpbp4", "MND1", "Mrto4", "Mybbp1a", "Ncl", "Nifk", "Nop2", "Nop56", "Nop58", "Pes1", "PIN4", "RBM28", "Rpf2", "RPL10", "RPL10A", "Rpl13", "Rpl13a", "Rpl14", "Rpl15", "Rpl18", "Rpl18a", "Rpl19", "Rpl21", "Rpl26", "Rpl3", "Rpl4", "Rpl5", "Rpl6", "Rpl7", "Rpl7a", "Rpl8", "Rplp0", "Rps3", "Rps3a", "Rps4x", "Rps6", "Rps8", "RPS9", "Rrp1", "Rrs1", "RSL1D1", "TPX2", "TUBA1B", "Tubb5", "Wdr12", "SMO"], "pfam_ids": "PF13851", "domain_descriptions": ["Growth arrest-specific protein 8 domain", "Growth arrest-specific protein 8"], "string_link": "https://string-db.org/network/9606/ENSG00000141013", "synonym": "DRC4, GAS11", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gas8", "ortholog_c_elegans": "gasr-8", "ortholog_xenopus": "gas8", "ortholog_zebrafish": "drc4", "ortholog_drosophila": "Gas8", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 26.2726, "sd_percent_ciliated": 14.8253, "z_score": -1.422, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 32.2, "sd_percent_ciliated": 32.2, "z_score": 32.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6182, "sd_percent_ciliated": 0.6182, "z_score": 0.6182, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GATA4", "ensembl_id": "ENSG00000136574", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "GATA binding protein 4 [Source:HGNC Symbol;Acc:HGNC:4173]", "omim_id": "600576", "functional_summary": "Functional validation in single- and double-heterozygous mouse models carrying these variants recapitulated TOF-like phenotypes and impaired normal cilia structure and function, particularly disrupting Hedgehog signaling in cardiomyocytes, and down-regulating key transcription factors Gata4 and Nkx2-5(PMID: 41071877).", "localization": "Ciliary associated gene, Nucleus", "reference": "4.1071877E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000136574", "ortholog_mouse": "Gata4", "ortholog_c_elegans": "elt-1", "ortholog_xenopus": "gata4", "ortholog_zebrafish": "gata4", "ortholog_drosophila": "pnr", "screens": [] }, { "gene": "GATA6", "ensembl_id": "ENSG00000141448", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GATA binding protein 6 [Source:HGNC Symbol,Acc:HGNC:4174]", "omim_id": "601656", "functional_summary": "Mutations in the GATA6 gene cause Congenital Heart Disease (PMID: 22158542, 22962692).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "22158542, 22962692 ,22158542, 22962692", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141448", "ciliopathy": "Congenital Heart Disease", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gata6", "ortholog_c_elegans": "elt-1", "ortholog_xenopus": "gata6", "ortholog_zebrafish": "gata6", "ortholog_drosophila": "pnr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.9081, "sd_percent_ciliated": 6.0562, "z_score": -1.345 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.352, "sd_percent_ciliated": 0.352, "z_score": 0.352 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.9334, "sd_percent_ciliated": -9.9334, "z_score": -9.9334 } ] }, { "gene": "GDF15", "ensembl_id": "ENSG00000130513", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "growth differentiation factor 15 [Source:HGNC Symbol,Acc:HGNC:30142]", "omim_id": "605312", "functional_summary": "Alteration in ciliary function and modulation of ADCY3 and GDF15 have all been linked to the regulation of energy homeostasis, food intake, and obesity (37064917).GDF15 critically contributes to the regulation of primary cilia in apical progenitors and neural stem cells (NSCs) in the embryonic ganglionic eminence (GE) and in the adult ventricular-subventricular zone (V-SVZ)(38719753).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "37064917 , 38719753", "complex_components": ["ERBB2", "GDF15", "GFRAL", "RET"], "pfam_ids": "PF00019", "domain_descriptions": ["Transforming growth factor-beta", "C-terminal", "Transforming growth factor-beta-related", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000130513", "synonym": "MIC-1, MIC1, NAG-1, PDF, PLAB, PTGFB", "ortholog_mouse": "Gdf15, Pdf", "ortholog_xenopus": "gdf15, pdf", "ortholog_zebrafish": "pdf", "ortholog_drosophila": "CG31278, CG31373", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.2984, "sd_percent_ciliated": 8.2728, "z_score": 0.5197 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.72, "sd_percent_ciliated": 2.72, "z_score": 2.72 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.7081, "sd_percent_ciliated": -3.7081, "z_score": -3.7081 } ] }, { "gene": "GDF6", "ensembl_id": "ENSG00000156466", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "growth differentiation factor 6 [Source:HGNC Symbol,Acc:HGNC:4221]", "omim_id": "601147", "functional_summary": "Zebrafish Gdf6 plays a role in later eye development, notably that gdf6 mR is expressed in the proliferative ciliary margi l zone with apoptotic cell death observed in mutants ( 23307924).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue", "reference": "23307924, 23307924 ,23307924", "complex_components": {}, "pfam_ids": ["PF00019", "PF00688"], "domain_descriptions": ["TGF-beta", "propeptide", "Transforming growth factor-beta", "C-terminal", "Transforming growth factor-beta-related", "Transforming growth factor beta", "conserved site", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000156466", "synonym": "BMP13, KFS, KFS1, SGM1", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gdf6", "ortholog_xenopus": "gdf6", "ortholog_zebrafish": "gdf6a, gdf6b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.0952, "sd_percent_ciliated": 10.7413, "z_score": -0.8377, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.813, "sd_percent_ciliated": 0.813, "z_score": 0.813, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6664, "sd_percent_ciliated": 0.6664, "z_score": 0.6664, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GDI2", "ensembl_id": "ENSG00000057608", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GDP dissociation inhibitor 2 [Source:HGNC Symbol,Acc:HGNC:4227]", "omim_id": "600767", "functional_summary": "zip1 was phosphorylated by GSK3尾 at S520 in G0 phase, which increased its binding to GDI2 to promote the release of Rab8GDP at the cilium base(25860027).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "2.5860027E7", "complex_components": {}, "pfam_ids": "PF00996", "domain_descriptions": ["Rab GDI protein", "GDP dissociation inhibitor", "FAD/NAD(P)-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000057608", "synonym": "RABGDIB", "ortholog_mouse": "Gdi2", "ortholog_c_elegans": "gdi-1", "ortholog_xenopus": "gdi2", "ortholog_zebrafish": "gdi2", "ortholog_drosophila": "Gdi", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.26, "sd_percent_ciliated": 0.0674, "z_score": -1.3023 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.7, "sd_percent_ciliated": 3.7, "z_score": 3.7 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.8895, "sd_percent_ciliated": -3.8895, "z_score": -3.8895 } ] }, { "gene": "GFAP", "ensembl_id": "ENSG00000131095", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "No change (≈90%)", "description": "glial fibrillary acidic protein [Source:HGNC Symbol,Acc:HGNC:4235]", "omim_id": "137780", "functional_summary": "GFAP positive astrocytes possessed cilia specific markers adenylyl cyclase III (ACIII)(31249512) More than 90% of the GFAP-positive cells formed primary cilia, and the primary cilium formation rate remained unchanged", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "31249512, https://doi.org/10.1101/2023.10.01.560403", "complex_components": {}, "pfam_ids": ["PF00038", "PF04732"], "domain_descriptions": ["Intermediate filament head", "DNA-binding domain", "Intermediate filament protein", "conserved site", "Intermediate filament", "rod domain", "Intermediate filament structural protein"], "string_link": "https://string-db.org/network/9606/ENSG00000131095", "synonym": "FLJ45472", "ortholog_mouse": "Gfap", "ortholog_zebrafish": "gfap", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.6046, "sd_percent_ciliated": 0.9885, "z_score": -0.2913, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.674, "sd_percent_ciliated": 0.674, "z_score": 0.674, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2404, "sd_percent_ciliated": -4.2404, "z_score": -4.2404, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GFRAL", "ensembl_id": "ENSG00000187871", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GDNF family receptor alpha like [Source:HGNC Symbol,Acc:HGNC:32789]", "omim_id": "617837", "functional_summary": "GFRAL in primary cilia and altered cilia morphology upon GDF15 ablation (38719753).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8719753E7", "complex_components": ["GDF15", "GFRAL", "RET"], "pfam_ids": "PF02351", "domain_descriptions": ["Glial cell line-derived neurotrophic factor receptor", "GDNF/GAS1", "GDNF receptor alpha"], "string_link": "https://string-db.org/network/9606/ENSG00000187871", "synonym": "BA360D14.1, C6ORF144, GRAL, UNQ9356", "ortholog_mouse": "Gfral", "ortholog_c_elegans": "gfrl-1", "ortholog_zebrafish": "gfral", "ortholog_drosophila": "Gfrl", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.55, "sd_percent_ciliated": 1.55, "z_score": 1.55, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0448, "sd_percent_ciliated": 1.0448, "z_score": 1.0448, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GGA1", "ensembl_id": "ENSG00000100083", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "golgi associated, gamma adaptin ear containing, ARF binding protein 1 [Source:HGNC Symbol,Acc:HGNC:17842]", "omim_id": "606004", "functional_summary": "Rabep1/GGA1/Arl3-dependent ciliary targeting mechanism, whereby Rabep1 couples the polycystin complex to a GGA1/Arl3-based ciliary trafficking module at the TGN ( 25405894).", "localization": "Ciliary associated gene, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "2.5405894E7", "complex_components": ["ADRA2B", "GGA1"], "pfam_ids": ["PF03127", "PF00790", "PF02883", "PF18308"], "domain_descriptions": ["VHS domain", "GAT domain", "Clathrin adaptor", "alpha/beta/gamma-adaptin", "appendage", "Ig-like subdomain", "Gamma-adaptin ear (GAE) domain", "ENTH/VHS", "Clathrin adaptor", "appendage", "Ig-like subdomain superfamily", "ADP-ribosylation factor-binding protein GGA1-3", "GAT domain superfamily", "N-terminal extension of GAT domain"], "string_link": "https://string-db.org/network/9606/ENSG00000100083", "ortholog_mouse": "Gga1", "ortholog_c_elegans": "apt-9", "ortholog_xenopus": "gga1", "ortholog_zebrafish": "gga1", "ortholog_drosophila": "Gga", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.0378, "sd_percent_ciliated": 6.3858, "z_score": -1.5716 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.5, "sd_percent_ciliated": 0.5, "z_score": 0.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.7579, "sd_percent_ciliated": -5.7579, "z_score": -5.7579 } ] }, { "gene": "GID8", "ensembl_id": "ENSG00000101193", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GID complex subunit 8 homolog [Source:HGNC Symbol;Acc:HGNC:15857]", "omim_id": "611625", "functional_summary": "RMND5A and TWA1 are present at the basal body, at the axoneme in primary cilia and motile mono-cilia, and at the centrioles in cycling cells, and other integral components of the GID complex(ARMC8 and MKLN1) are present at the axoneme in primary cilia, suggesting that the GID complex has a function at the primary cilium(35543155).", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "3.5543155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101193", "synonym": "BA305P22.1, C20ORF11, FLJ20602, TWA1", "ortholog_mouse": "Gid8", "ortholog_c_elegans": "gid-8", "ortholog_xenopus": "gid8", "ortholog_zebrafish": "gid8a, gid8b", "ortholog_drosophila": "CG18467, Hou", "screens": [] }, { "gene": "GIGYF1", "ensembl_id": "ENSG00000146830", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GRB10 interacting GYF protein 1 [Source:HGNC Symbol,Acc:HGNC:9126]", "omim_id": "612064", "functional_summary": "GIGYF1 has localized in basal body, cilia. GIGYF1 is annotated to “Cilium organization” in ciliated cells.(36189799)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 36189799", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000146830", "synonym": "GYF1, PERQ1", "ortholog_mouse": "Gigyf1", "ortholog_c_elegans": "gyf-1", "ortholog_xenopus": "gigyf1", "ortholog_zebrafish": "gigyf1a, gigyf1b", "ortholog_drosophila": "Gyf", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.64, "sd_percent_ciliated": 2.64, "z_score": 2.64, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0807, "sd_percent_ciliated": -2.0807, "z_score": -2.0807, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GJA1", "ensembl_id": "ENSG00000152661", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "gap junction protein alpha 1 [Source:HGNC Symbol,Acc:HGNC:4274]", "omim_id": "121014", "functional_summary": "GJA1 also regulates the mainte nce of cilia (32312952) and GJA1 regulates ciliogenesis by affecting ciliary trafficking and thereby promoting uncapping of the mother centriole. GJA1 contributes to proper ciliogenesis by regulating Rab11 trafficking to basal bodies and facilitating ciliary axoneme formation and assembly(36004726). GJA1 depletion caused malformation of both the primary cilium and motile cilia. (36004726)", "localization": "basal body, cilia, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Cardiac & muscle development, Muscle contraction & physiology", "reference": "32312952 , 36004726,", "complex_components": ["GJA1", "HSP90AA1", "TOMM20"], "pfam_ids": ["PF00029", "PF03508"], "domain_descriptions": ["Connexin", "Gap junction alpha-1 protein (Cx43)", "Connexin", "N-terminal", "Gap junction alpha-1 protein (Cx43)", "C-terminal", "Connexin", "conserved site", "Gap junction protein", "cysteine-rich domain", "Connexin", "C-terminal", "Gap junction alpha-1 protein (Cx43)", "alpha helix domain superfamily", "Connexin", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000152661", "synonym": "CX43, GJAL, ODD, ODDD, ODOD, SDTY3", "ortholog_mouse": "Gja1", "ortholog_xenopus": "gja1", "ortholog_zebrafish": "gja1a, gja1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.7036, "sd_percent_ciliated": 4.6855, "z_score": 0.2053, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.99, "sd_percent_ciliated": 6.99, "z_score": 6.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0311, "sd_percent_ciliated": 0.0311, "z_score": 0.0311, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GLB1L2", "ensembl_id": "ENSG00000149328", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "galactosidase beta 1 like 2 [Source:HGNC Symbol,Acc:HGNC:25129]", "functional_summary": "The loss of Dr.81747 (GLB1L2 in human), showed a significant reduction in the length of motile cilia in the kidney tubules(25139857).", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": ["PF21467", "PF21317", "PF01301"], "domain_descriptions": ["Glycoside hydrolase", "family 35", "Galactose-binding-like domain superfamily", "Glycoside hydrolase superfamily", "Glycoside hydrolase", "family 35", "conserved site", "Beta-galactosidase 1-like", "Glycoside hydrolase 35", "catalytic domain", "Beta-galactosidase 1-like ", "first all-beta domain", "Beta-galactosidase", "galactose-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000149328", "ortholog_mouse": "Glb1l2", "ortholog_xenopus": "glb1l2", "ortholog_zebrafish": "si:dkey-224e22.2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.3, "sd_percent_ciliated": 1.3, "z_score": 1.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5149, "sd_percent_ciliated": -1.5149, "z_score": -1.5149, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GLG1", "ensembl_id": "ENSG00000090863", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "golgi glycoprotein 1 [Source:HGNC Symbol,Acc:HGNC:4316]", "omim_id": "600753", "functional_summary": "GLG1 has localized in flagella.", "localization": "flagella", "functional_category": "Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue", "reference": "https://www.proteinatlas.org/", "complex_components": ["CHUK", "IKBKG", "KPNA3", "NFKB1", "NFKB2", "NFKBIA", "NFKBIB", "NFKBIE", "REL", "RELA", "RELB", "TNIP2", "DDX3X", "GLG1", "GTF2I", "MAP3K8", "RPL30", "RPL6", "RPS13"], "pfam_ids": "PF00839", "domain_descriptions": ["Cysteine-rich Golgi apparatus protein 1 repeat", "Cysteine-rich Golgi apparatus protein 1 repeat", "eukaryote", "Golgi apparatus protein 1"], "string_link": "https://string-db.org/network/9606/ENSG00000090863", "synonym": "CFR-1, ESL-1, MG-160", "ortholog_mouse": "Glg1", "ortholog_c_elegans": "F14E5.2", "ortholog_xenopus": "glg1", "ortholog_zebrafish": "glg1a, glg1b", "ortholog_drosophila": "Glg1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.1676, "sd_percent_ciliated": 15.0621, "z_score": 0.1403 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.284, "sd_percent_ciliated": 0.284, "z_score": 0.284 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4104, "sd_percent_ciliated": -0.4104, "z_score": -0.4104 } ] }, { "gene": "GLI1", "ensembl_id": "ENSG00000111087", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GLI family zinc finger 1 [Source:HGNC Symbol,Acc:HGNC:4317]", "omim_id": "165220", "functional_summary": "Hedgehog sig ling pathway effector. GLI1 activation depends on cilia.", "localization": "basal body , cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "21209912, 30463852, 33012205 ,33012205", "complex_components": ["GLI1", "MRTFA", "SRF"], "pfam_ids": ["PF00096", "PF23561"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "C2H2-type zinc-finger protein GLI-like", "ZIC1-5/GLI1-3like", "C2H2 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000111087", "synonym": "GLI", "ciliopathy": "Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gli1", "ortholog_c_elegans": "tra-1", "ortholog_xenopus": "gli1", "ortholog_zebrafish": "gli1", "ortholog_drosophila": "ci", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 81, "sd_percent_ciliated": 81, "z_score": 81, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0669, "sd_percent_ciliated": -2.0669, "z_score": -2.0669, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GLI2", "ensembl_id": "ENSG00000074047", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "GLI family zinc finger 2 [Source:HGNC Symbol,Acc:HGNC:4318]", "omim_id": "165230", "functional_summary": "Hedgehog sig ling pathway effector. Cilia or interflagellar transport proteins are required for GLI2 function and regulation (21209912). Regulates autophagy- mediated Ofd1 removal to control primary cilia formation and length (30463852). GLI2 knockdown/knockout leads to increased cilia length in NIH3T3 fibroblasts after serum starvation. GLI2 also participates in ciliary trafficking for Hedgehog signaling. (30782777,40073114)", "localization": "basal body , cilia,, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation, Cilia length regulation", "reference": "21209912, 14581620,30782777,40073114 ,14581620", "complex_components": {}, "pfam_ids": ["PF23561", "PF00096"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "C2H2-type zinc-finger protein GLI-like", "ZIC1-5/GLI1-3like", "C2H2 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000074047", "synonym": "HPE9, THP1, THP2", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gli2", "ortholog_c_elegans": "tra-1, ztf-14", "ortholog_xenopus": "gli2", "ortholog_zebrafish": "gli2a, gli2b", "ortholog_drosophila": "ci", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.9008, "sd_percent_ciliated": 5.209, "z_score": -0.0131 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 59.4, "sd_percent_ciliated": 59.4, "z_score": 59.4 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.8971, "sd_percent_ciliated": -8.8971, "z_score": -8.8971 } ] }, { "gene": "GLI3", "ensembl_id": "ENSG00000106571", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Unchanged", "description": "GLI family zinc finger 3 [Source:HGNC Symbol,Acc:HGNC:4319]", "omim_id": "165240", "functional_summary": "Hedgehog sig ling pathway effector. Loss of Polaris results in inefficient Gli3 processing. Inhibit Gli1- mediated transcription. The primary cilia length of Gli3∆/∆ satellite cells is shortened. Post-isolation, a comparable proportion of ciliated cells were found on freshly isolated myofibers from Gli3+/+ and Gli3∆/∆ mice. (35803939)", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, ECM & connective tissue, Transcription regulation, Cilia length regulation", "reference": "11741991, 27181777, 24069149., 9054938, 9302279, 35803939 ,9302279; 9054938", "complex_components": ["DZIP1", "GLI3", "CTNNA1", "CTNNB1", "Emx1", "WDR11"], "pfam_ids": ["PF23561", "PF00096"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "C2H2-type zinc-finger protein GLI-like", "ZIC1-5/GLI1-3like", "C2H2 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000106571", "synonym": "ACLS, GCPS, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV", "ciliopathy": "Greig Cephalopolysyndactyly Syndrome; Pallister-Hall Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gli3", "ortholog_c_elegans": "tra-1, ztf-14", "ortholog_xenopus": "gli3", "ortholog_zebrafish": "gli3", "ortholog_drosophila": "ci", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.3447, "sd_percent_ciliated": 0.7874, "z_score": 0.1618 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 42.7, "sd_percent_ciliated": 42.7, "z_score": 42.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.5811, "sd_percent_ciliated": 0.5811, "z_score": 0.5811 } ] }, { "gene": "GLIS2", "ensembl_id": "ENSG00000126603", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GLIS family zinc finger 2 [Source:HGNC Symbol,Acc:HGNC:29450]", "omim_id": "608539", "functional_summary": "Bifunctio l transcriptio l regulator, either as an activator and a repressor (11741991). Repressor of Hh sig ling. Loss of function causes nephronophthisis-like phenotype (27181777). Involved in epithelial-to- mesenchymal transition, fibrosis and apoptosis. Together with BBS1, GLIS2 (also called NPHP7) is required for normal ciliary motility, responsible for body assymmetry (24069149).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Transcription regulation", "reference": "26933123, 26882546., 17618285 ,17618285", "complex_components": ["CTNND1", "GLIS2", "CTNNB1", "TRIM32"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000126603", "synonym": "NPHP7", "ciliopathy": "Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Glis2", "ortholog_xenopus": "glis2", "ortholog_zebrafish": "glis2a, glis2b", "ortholog_drosophila": "sug", "screens": {} }, { "gene": "GLIS3", "ensembl_id": "ENSG00000107249", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced", "description": "GLIS family zinc finger 3 [Source:HGNC Symbol,Acc:HGNC:28510]", "omim_id": "610192", "functional_summary": "Loss of Glis2 function in mice and mutations in GLIS2 have been associated with nephronophthisis (17618285), while genetic alterations in the GLIS3 gene have been linked to a syndrome characterized by neo tal diabetes and congenital hypothyroidism (NDH) (16715098). Dysfunction of Glis3 leads to the development of cystic re l disease, suggesting that Glis3 plays a critical role in maintaining normal re l functions. Glis3 sig ling pathway have localization to the primary cilium and interaction with Wwtr1(19273592). Glis3 mutant mice form normal primary cilia, but the percentage of cells with a primary cilium in dilated and cystic renal tubules is reduced (19273592) GLIS3 deficiency does not affect the length of the primary cilium in mice, but mutation of Glis3 in Medaka results in shorter cilia (32693112). Glis3 deficiency also resulted in a medaka mutant with shortened renal cilia and caused polycystic kidney disease (Hashimoto et al. 2009).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "17618285 , 16715098 , 19273592, 32693112", "complex_components": ["GLIS3", "SUFU"], "pfam_ids": ["PF23561", "PF00096"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "C2H2-type zinc-finger protein GLI-like", "ZIC1-5/GLI1-3like", "C2H2 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000107249", "synonym": "MGC33662, ZNF515", "ortholog_mouse": "Glis3", "ortholog_c_elegans": "tra-1", "ortholog_xenopus": "glis3", "ortholog_zebrafish": "glis3", "ortholog_drosophila": "lmd", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.49, "sd_percent_ciliated": 2.49, "z_score": 2.49, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.047, "sd_percent_ciliated": 0.047, "z_score": 0.047, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2987, "sd_percent_ciliated": -0.2987, "z_score": -0.2987, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GLOD4", "ensembl_id": "ENSG00000167699", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "glyoxalase domain containing 4 [Source:HGNC Symbol,Acc:HGNC:14111]", "omim_id": "620650", "functional_summary": "GLOD4 is required for proper ciliogenesis ( 23604077). Knockdown of GLOD4 in RPE1 cells reduces cilia length and affects cell cycle progression. ( 23604077)", "localization": "Ciliary associated gene, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "2.3604077E7", "complex_components": {}, "pfam_ids": ["PF21701", "PF21207", "PF00903"], "domain_descriptions": ["Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase", "Vicinal oxygen chelate (VOC) domain", "Glyoxalase domain-containing protein 4", "Glyoxalase domain-containing protein 4", "C-terminal", "Glyoxalase/fosfomycin resistance/dioxygenase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167699", "synonym": "C17ORF25, CGI-150, HC71", "ortholog_mouse": "Glod4", "ortholog_c_elegans": "glod-4", "ortholog_xenopus": "glod4", "ortholog_zebrafish": "glod4", "ortholog_drosophila": "CG1532", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8597, "sd_percent_ciliated": -1.8597, "z_score": -1.8597, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GMNC", "ensembl_id": "ENSG00000205835", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "geminin coiled-coil domain containing [Source:HGNC Symbol,Acc:HGNC:40049]", "omim_id": "614448", "functional_summary": "Also known as GEMC1. Regulator of multiciliated cells differentiation, interacting with E2F4/5鈥怐P1 and Multicilin. Candidate gene for human reduced generation of multiple motile cilia RGMC (26933123). It transactivates the McIdas and FoxJ1 upstream regulatory sequences, markers of ciliogenesis (26882546).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "26034134, 27481943 ,10.1101/2021.02.17.431442", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000205835", "synonym": "GEMC1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gmnc", "ortholog_xenopus": "gmnc", "ortholog_zebrafish": "gmnc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.515, "sd_percent_ciliated": 0.515, "z_score": 0.515, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4431, "sd_percent_ciliated": 0.4431, "z_score": 0.4431, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GMNN", "ensembl_id": "ENSG00000112312", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "geminin DNA replication inhibitor [Source:HGNC Symbol,Acc:HGNC:17493]", "omim_id": "602842", "functional_summary": "Geminin ( GMNN) is required for left–right patterning through regulating Kupffer’s vesicle formation and ciliogenesis in zebrafish ( 21539812).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "2.1539812E7", "complex_components": ["BRCA1", "CDC6", "GMNN", "ORC1", "CDT1", "MCIDAS"], "pfam_ids": "PF07412", "domain_descriptions": "Geminin/Multicilin", "string_link": "https://string-db.org/network/9606/ENSG00000112312", "synonym": "GEM", "ortholog_mouse": "Gem, Gmnn", "ortholog_c_elegans": "F20D6.8, W04C9.5", "ortholog_xenopus": "gem, gmnn", "ortholog_zebrafish": "gem, gmnn", "ortholog_drosophila": "geminin, Rgk2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.7996, "z_score": 0.4099, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 42.1168, "z_score": 0.4977, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.8597 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.58, "z_score": 2.58, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.58 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2558, "z_score": -4.2558, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.2558 } ] }, { "gene": "GNAI1", "ensembl_id": "ENSG00000127955", "overexpression_effects": "Not Reported", "lof_effects": "Impaired ciliogenesis", "percent_ciliated_cells_effects": "Reduced % ciliation", "description": "G protein subunit alpha i1 [Source:HGNC Symbol,Acc:HGNC:4384]", "omim_id": "139310", "functional_summary": "G I1 has localized in basal body. GNAI1 knockdown impairs ciliogenesis in human cells. GNAI1 variants disrupt ciliary localization of Gαi1 proteins. (40894620)", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 15452722, 40894620", "complex_components": ["GNAI1", "GPSM2", "NUMA1", "Gnb1", "GNG2", "SAPCD2", "GNB1", "MTNR1A", "RGS20", "GNGT1", "GNB2", "GNB3", "GNB4", "GNB5", "GNG3", "GNG4", "GNG5", "GNG7", "GNG8", "GNG10", "GNG11", "GNG12", "GNG13", "NTS", "NTSR1", "DRD2", "DAB2", "EFNB2", "F2RL2", "GNAI3", "KDR", "CD69", "S1PR1"], "pfam_ids": "PF00503", "domain_descriptions": ["Guanine nucleotide binding protein (G-protein)", "alpha subunit", "G-protein alpha subunit", "group I", "G protein alpha subunit", "helical insertion", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000127955", "ortholog_mouse": "Gnai1", "ortholog_c_elegans": "gpa-16, gpa-4", "ortholog_xenopus": "gnai1", "ortholog_zebrafish": "gnai1, gnaia", "ortholog_drosophila": "Gαi", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.22, "sd_percent_ciliated": 8.6578, "z_score": -1.4283 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.39, "sd_percent_ciliated": 3.39, "z_score": 3.39 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3982, "sd_percent_ciliated": -1.3982, "z_score": -1.3982 } ] }, { "gene": "GNAI2", "ensembl_id": "ENSG00000114353", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein subunit alpha i2 [Source:HGNC Symbol,Acc:HGNC:4385]", "omim_id": "139360", "functional_summary": "G I2 has localized in basal body.", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CXCR4", "GNAI2", "GNB1", "IGF1R", "DRD2", "ADORA1", "GNG2"], "pfam_ids": "PF00503", "domain_descriptions": ["Guanine nucleotide binding protein (G-protein)", "alpha subunit", "G-protein alpha subunit", "group I", "G protein alpha subunit", "helical insertion", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000114353", "synonym": "GIP, GNAI2B", "ortholog_mouse": "Gip, Gnai2", "ortholog_c_elegans": "gpa-16", "ortholog_xenopus": "gip, gnai2", "ortholog_zebrafish": "gip, gnai2a, gnai2b", "ortholog_drosophila": "Gαi", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.535, "sd_percent_ciliated": 19.2523, "z_score": 0.5483, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.11, "sd_percent_ciliated": 2.11, "z_score": 2.11, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0913, "sd_percent_ciliated": -1.0913, "z_score": -1.0913, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GNAI3", "ensembl_id": "ENSG00000065135", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein subunit alpha i3 [Source:HGNC Symbol,Acc:HGNC:4387]", "omim_id": "139370", "functional_summary": "G I3 has localized in basal body.", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DAB2", "EFNB2", "F2RL2", "GNAI1", "GNAI3", "KDR"], "pfam_ids": "PF00503", "domain_descriptions": ["Guanine nucleotide binding protein (G-protein)", "alpha subunit", "G-protein alpha subunit", "group I", "G protein alpha subunit", "helical insertion", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000065135", "synonym": "87U6", "ortholog_mouse": "Gnai3", "ortholog_c_elegans": "gpa-16, gpa-4", "ortholog_xenopus": "gnai3", "ortholog_zebrafish": "gnai3", "ortholog_drosophila": "Gαi", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.1023, "z_score": -1.4329, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 23.7148, "z_score": -1.7319, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.9856 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.438, "z_score": -3.438, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.438 } ] }, { "gene": "GNAS", "ensembl_id": "ENSG00000087460", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GNAS complex locus [Source:HGNC Symbol,Acc:HGNC:4392]", "omim_id": "139320", "functional_summary": "G S (Guanine Nucleotide-Binding Protein G(s) Subunit Alpha) is functio lly localized to the membrane of cilia and plays a significant role in cAMP sig ling within the ciliary compartment (35286670).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "35286670 ,34469896", "complex_components": ["GNAS", "GNB1", "GNG2", "ADRB2", "Gnb1", "GNGT1", "GNB2", "GNB3", "GNB4", "GNB5", "GNG3", "GNG4", "GNG5", "GNG7", "GNG8", "GNG10", "GNG11", "GNG12", "GNG13", "ADCYAP1", "VIPR1", "GCG", "GLP2R", "GCGR", "PTH2", "PTH2R", "SCT", "SCTR", "CALCA", "CALCR", "GHRH", "GHRHR", "PTH", "PTH1R", "CALCRL", "RAMP1", "ADM", "RAMP2", "RAMP3", "ADM2", "ADRB3", "CRHR1", "Gng2", "UCN", "CRHR2"], "pfam_ids": ["PF06390", "PF00503"], "domain_descriptions": ["Neuroendocrine secretory protein 55", "G-protein alpha subunit", "group S", "Guanine nucleotide binding protein (G-protein)", "alpha subunit", "G protein alpha subunit", "helical insertion", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000087460", "synonym": "GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6, SGVI", "ciliopathy": "Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gnas", "ortholog_c_elegans": "gsa-1", "ortholog_zebrafish": "gnas", "ortholog_drosophila": "Gαs", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.4068, "sd_percent_ciliated": 2.0364, "z_score": 0.0482, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.77, "sd_percent_ciliated": 5.77, "z_score": 5.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9576, "sd_percent_ciliated": -0.9576, "z_score": -0.9576, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GNAT1", "ensembl_id": "ENSG00000114349", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein subunit alpha transducin 1 [Source:HGNC Symbol,Acc:HGNC:4393]", "omim_id": "139330", "functional_summary": "Subunit of transducin. Localises to photoreceptor outer segment. Requires RP2 for normal localisation", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "26034135, 30970040", "complex_components": ["GNAT1", "GNB5", "RGS9", "RGS9BP", "PDE6B", "PDE6G", "PDE6A"], "pfam_ids": "PF00503", "domain_descriptions": ["Guanine nucleotide binding protein (G-protein)", "alpha subunit", "G-protein alpha subunit", "group I", "G protein alpha subunit", "helical insertion", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000114349", "synonym": "CSNBAD3", "ortholog_mouse": "Gnat1", "ortholog_c_elegans": "gpa-16, gpa-4", "ortholog_xenopus": "gnat1", "ortholog_zebrafish": "gnat1", "ortholog_drosophila": "Gαi", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.8537, "sd_percent_ciliated": 0.9315, "z_score": -1.3516 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.98, "sd_percent_ciliated": 3.98, "z_score": 3.98 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3408, "sd_percent_ciliated": -3.3408, "z_score": -3.3408 } ] }, { "gene": "GNAT3", "ensembl_id": "ENSG00000214415", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein subunit alpha transducin 3 [Source:HGNC Symbol,Acc:HGNC:22800]", "omim_id": "139395", "functional_summary": "伪-gustducin and TRPM5 resided in cilia(19628819).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9628819E7", "complex_components": {}, "pfam_ids": "PF00503", "domain_descriptions": ["Guanine nucleotide binding protein (G-protein)", "alpha subunit", "G-protein alpha subunit", "group I", "G protein alpha subunit", "helical insertion", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000214415", "synonym": "GDCA, GUSTDUCIN", "ortholog_mouse": "Gnat3", "ortholog_c_elegans": "gpa-16, gpa-4", "ortholog_drosophila": "Gαi", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0342, "sd_percent_ciliated": 0.0342, "z_score": 0.0342, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.186, "sd_percent_ciliated": -4.186, "z_score": -4.186, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GNB1", "ensembl_id": "ENSG00000078369", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein subunit beta 1 [Source:HGNC Symbol,Acc:HGNC:4396]", "omim_id": "139380", "functional_summary": "Subunit of transducin. Localises to photoreceptor outer segment. Requires RP2 for normal localisation. SUMOylation motifs are not present in several other proteins that localize to olfactory cilia, including … GNB1. (25908845)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28546340, 24046448, 38500542, 25908845 ,38500542", "complex_components": ["ADGRG1", "CD81", "GNAQ", "GNB1", "GNAS", "GNG2", "MCF2", "BTK", "CACNA1A", "PTH1R", "HDAC5", "HDAC4", "GNGT1", "NME2", "GNAI1", "MTNR1A", "RGS20", "PDC", "KCTD12", "KCTD8", "KCTD16", "CXCR4", "GNAI2", "IGF1R", "GNG3", "GNG4", "GNG5", "GNG7", "GNG8", "GNG10", "GNG11", "GNG12", "GNG13", "ADGRA2", "DOCK1", "ELMO2", "ITSN1", "PPP1CA", "PPP1CB", "PPP1CC", "ARRB2", "PDCL", "CCT5", "NTS", "NTSR1", "GCG", "GCGR", "SCT", "SCTR", "CALCA", "CALCR", "CASR", "CALCRL", "RAMP1", "ADM", "RAMP2", "RAMP3", "ADM2", "ADORA1", "FNDC1", "KDR", "CD69", "S1PR1"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Guanine nucleotide-binding protein", "beta subunit", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "G-protein", "beta subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000078369", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gnb1", "ortholog_c_elegans": "gpb-1", "ortholog_xenopus": "gnb1", "ortholog_zebrafish": "gnb1a, gnb1b", "ortholog_drosophila": "Gβ13F", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.7374, "z_score": 0.3904, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.5292, "z_score": 1.638, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.8702 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.34, "z_score": 3.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.34 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1659, "z_score": -1.1659, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.1659 } ] }, { "gene": "GOLGA3", "ensembl_id": "ENSG00000090615", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "golgin A3 [Source:HGNC Symbol,Acc:HGNC:4426]", "omim_id": "602581", "functional_summary": "Mutations in the GOLGA3 gene cause Primary Ciliary Dyskinesia (PMID: 32367404).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "32367404 ,32367404", "complex_components": ["ADRB1", "GOLGA3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000090615", "synonym": "GCP170, GOLGIN-160, MEA-2", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Golga3", "ortholog_xenopus": "golga3", "ortholog_zebrafish": "golga3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.142, "sd_percent_ciliated": 8.9149, "z_score": -0.3474, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.79, "sd_percent_ciliated": 7.79, "z_score": 7.79, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4164, "sd_percent_ciliated": -1.4164, "z_score": -1.4164, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GOLGB1", "ensembl_id": "ENSG00000173230", "overexpression_effects": "Not Reported", "lof_effects": "Longer (partial depletion)\nFailure of ciliogenesis (severe depletion)", "percent_ciliated_cells_effects": "Reduced % ciliated (in depletion)", "description": "golgin B1 [Source:HGNC Symbol,Acc:HGNC:4429]", "omim_id": "602500", "functional_summary": "Required for ciliogenesis and control of ciliary length, through the lregulation of pericentrosomal location of the dynein-2 intermediate chain WDR34. Depletion results in cilia number and structure (fewer but longer cilia) (28546340, 24046448). Partial depletion of giantin or of WDR34 leads to an increase in cilia length consistent with the concept that giantin acts through dynein-2. Suppression of giantin … leads to inability of cells to form primary cilia. (24046448) Knockdown in zebrafish … cilia number was reduced and visible cilia were longer. (23391289)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "23578785, 24046448, 23391289", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173230", "synonym": "GCP, GCP372, GIANTIN, GOLIM1", "ortholog_mouse": "Golgb1", "ortholog_xenopus": "golgb1", "ortholog_zebrafish": "golgb1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.3897, "sd_percent_ciliated": 5.0184, "z_score": -1.4078 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.19, "sd_percent_ciliated": 3.19, "z_score": 3.19 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.218, "sd_percent_ciliated": 0.218, "z_score": 0.218 } ] }, { "gene": "GOPC", "ensembl_id": "ENSG00000047932", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "golgi associated PDZ and coiled-coil motif containing [Source:HGNC Symbol,Acc:HGNC:17643]", "omim_id": "606845", "functional_summary": "GOPC has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://www.proteinatlas.org/", "complex_components": ["CFTR", "GOPC", "STX6", "ADRB1"], "pfam_ids": "PF00595", "domain_descriptions": ["PDZ domain", "PDZ superfamily", "Golgi-associated PDZ and coiled-coil motif-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000047932", "synonym": "CAL, DJ94G16.2, FIG, GOPC1, PIST", "ortholog_mouse": "Gopc", "ortholog_c_elegans": "gopc-1", "ortholog_xenopus": "gopc", "ortholog_zebrafish": "gopc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.8111, "sd_percent_ciliated": 5.6378, "z_score": -0.5086, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.73, "sd_percent_ciliated": 2.73, "z_score": 2.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3578, "sd_percent_ciliated": 0.3578, "z_score": 0.3578, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPATCH1", "ensembl_id": "ENSG00000076650", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G-patch domain containing 1 [Source:HGNC Symbol,Acc:HGNC:24658]", "functional_summary": "GPATCH1 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8"], "pfam_ids": ["PF01585", "PF07713"], "domain_descriptions": ["G-patch domain", "G patch domain-containing protein", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000076650", "synonym": "ECGP, FLJ10206, FLJ38686, GPATC1", "ortholog_mouse": "Gpatch1", "ortholog_c_elegans": "gpch-1", "ortholog_xenopus": "gpatch1", "ortholog_zebrafish": "gpatch1", "ortholog_drosophila": "CG8833", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.91, "sd_percent_ciliated": 1.91, "z_score": 1.91, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1999, "sd_percent_ciliated": -2.1999, "z_score": -2.1999, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPBAR1", "ensembl_id": "ENSG00000179921", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled bile acid receptor 1 [Source:HGNC Symbol,Acc:HGNC:19680]", "omim_id": "610147", "functional_summary": "Also known as TGR5. Linked to ERK sig ling, which is activated in ciliated cholangiocytes but inhibited in nonciliated cholangiocytes. Involved in bile acid-induced proliferation of nonciliated cells. Its localisation allows cholangiocyte functio l responses to bile acid sig ling.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3332756E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000179921", "synonym": "BG37, GPCR, GPCR19, GPR131, M-BAR, MGC40597, TGR5", "ortholog_mouse": "Gpbar1", "ortholog_xenopus": "gpbar1", "ortholog_zebrafish": "gpbar1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.5237, "z_score": 0.6359, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.2411, "z_score": 2.0878, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.7346 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.46, "z_score": 2.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.46 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6998, "z_score": -4.6998, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.6998 } ] }, { "gene": "GPC3", "ensembl_id": "ENSG00000147257", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased ciliogenesis", "description": "glypican 3 [Source:HGNC Symbol,Acc:HGNC:4451]", "omim_id": "300037", "functional_summary": "Mutations in the GPC3 gene cause Simpson-Golabi-Behmel Syndrome (PMID: 9950367). Interfering with GPC3 signalling during AEC differentiation induced a significant reduction in ciliogenesis, associated with a decrease in FOXJ1 expression and defective epithelial polarization. (39844999)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "9950367, 39844999", "complex_components": ["DPP4", "GPC3", "PCSK9"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000147257", "synonym": "DGSX, OCI-5, SDYS, SGB, SGBS, SGBS1", "ortholog_mouse": "Gpc3", "ortholog_xenopus": "gpc3", "ortholog_zebrafish": "gpc3", "ortholog_drosophila": "dally", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.4198, "sd_percent_ciliated": 16.0747, "z_score": -0.556 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0425, "sd_percent_ciliated": 0.0425, "z_score": 0.0425 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.3708, "sd_percent_ciliated": -8.3708, "z_score": -8.3708 } ] }, { "gene": "GPIHBP1", "ensembl_id": "ENSG00000277494", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Source:HGNC Symbol,Acc:HGNC:24945]", "omim_id": "612757", "functional_summary": "GPIHBP1 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00087", "domain_descriptions": ["Snake toxin/toxin-like", "Snake toxin-like superfamily", "Ly-6/neurotoxin-like and GPI-anchored"], "string_link": "https://string-db.org/network/9606/ENSG00000277494", "synonym": "GPI-HBP1, LOC338328", "ortholog_mouse": "Gpihbp1", "ortholog_xenopus": "LOC116411567, LOC116411755", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.19, "sd_percent_ciliated": 6.19, "z_score": 6.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5054, "sd_percent_ciliated": -1.5054, "z_score": -1.5054, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR161", "ensembl_id": "ENSG00000143147", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 161 [Source:HGNC Symbol,Acc:HGNC:23694]", "omim_id": "612250", "functional_summary": "GPR161 increases cAMP levels, establishing the basal cAMP gradient and activation of PKA. Repression of Shh sig ling by determining the processing of Gli3 to its repressor form (23332756).", "localization": "basal body , cilia , transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "2.6167768E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000143147", "synonym": "RE2", "ortholog_mouse": "Gpr161", "ortholog_xenopus": "gpr161", "ortholog_zebrafish": "gpr161a, gpr161b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.5924, "sd_percent_ciliated": 1.1422, "z_score": -0.0505, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.48, "sd_percent_ciliated": 0.48, "z_score": 0.48, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6687, "sd_percent_ciliated": -5.6687, "z_score": -5.6687, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR173", "ensembl_id": "ENSG00000184194", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 173 [Source:HGNC Symbol,Acc:HGNC:18186]", "omim_id": "300253", "functional_summary": "Also known as SREB3. Neuro l ciliary GPCR which may play sensory or sig lling roles in the ciliary vesicle or procilium during ciliogenesis", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6167768E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM", "GPCR with Orphan and Phoenixin-Mediated Functions"], "string_link": "https://string-db.org/network/9606/ENSG00000184194", "synonym": "SREB3", "ortholog_mouse": "Gpr173", "ortholog_xenopus": "gpr173", "ortholog_zebrafish": "gpr173", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.3493, "sd_percent_ciliated": 2.5563, "z_score": 0.2835, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.186, "sd_percent_ciliated": 0.186, "z_score": 0.186, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.2557, "sd_percent_ciliated": -6.2557, "z_score": -6.2557, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR180", "ensembl_id": "ENSG00000152749", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 180 [Source:HGNC Symbol,Acc:HGNC:28899]", "omim_id": "607787", "functional_summary": "GPR180 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF21870", "PF10192"], "domain_descriptions": ["GPR180/TMEM145", "transmembrane domain", "GPR180/TMEM145", "GPR180-like", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000152749", "synonym": "ITR", "ortholog_mouse": "Gpr180", "ortholog_c_elegans": "T04F8.2", "ortholog_xenopus": "gpr180", "ortholog_zebrafish": "gpr180", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.06, "sd_percent_ciliated": 3.06, "z_score": 3.06, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7997, "sd_percent_ciliated": -0.7997, "z_score": -0.7997, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR183", "ensembl_id": "ENSG00000169508", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 183 [Source:HGNC Symbol,Acc:HGNC:3128]", "omim_id": "605741", "functional_summary": "GPR183 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CXCR5", "GPR183"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000169508", "synonym": "EBI2", "ortholog_mouse": "Gpr183", "ortholog_xenopus": "gpr183.2", "ortholog_zebrafish": "gpr183a, gpr183b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.1836, "sd_percent_ciliated": -5.1836, "z_score": -5.1836, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR19", "ensembl_id": "ENSG00000183150", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 19 [Source:HGNC Symbol,Acc:HGNC:4473]", "omim_id": "602927", "functional_summary": "Gpr19 is an orphan GPCR that also localizes to cilia on hippocampal neurons (28154160) and Gpr19 accumulate in cilia on Bbs1 knockout neurons(36699005).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28154160 , 36699005", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM", "G protein-coupled receptor 19", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000183150", "ortholog_mouse": "Gpr19", "ortholog_xenopus": "gpr19", "ortholog_zebrafish": "gpr19", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.1684, "sd_percent_ciliated": 3.6902, "z_score": -0.95 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.02, "sd_percent_ciliated": 2.02, "z_score": 2.02 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1095, "sd_percent_ciliated": -2.1095, "z_score": -2.1095 } ] }, { "gene": "GPR20", "ensembl_id": "ENSG00000291465", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 20 [Source:HGNC Symbol,Acc:HGNC:4475]", "omim_id": "601908", "functional_summary": "Neuro l ciliary GPCR", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5335082E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291465", "ortholog_mouse": "Gpr20", "ortholog_c_elegans": "gnrr-4", "ortholog_xenopus": "gpr20", "ortholog_zebrafish": "gpr20", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.7469, "sd_percent_ciliated": 4.6006, "z_score": 0.8163 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.831, "sd_percent_ciliated": 0.831, "z_score": 0.831 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.2279, "sd_percent_ciliated": -5.2279, "z_score": -5.2279 } ] }, { "gene": "GPR22", "ensembl_id": "ENSG00000283812", "overexpression_effects": "Abnormal / altered", "lof_effects": "Abnormal / altered", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 22 [Source:HGNC Symbol,Acc:HGNC:4477]", "omim_id": "601910", "functional_summary": "Regulation of Left-Right asymmetry through the Kupffer鈥檚 vesicle (KV) and mantains cilia length and structure in KV. Both knockdown and overexpression of gpr22 in the Kupffer’s vesicle result in abnormal cilia length and ultrastructure, leading to defects in left–right axis formation. (25335082)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "24316073, 25335082", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000283812", "ortholog_mouse": "Gpr22", "ortholog_xenopus": "gpr22", "ortholog_zebrafish": "gpr22a, gpr22b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.7403, "sd_percent_ciliated": 14.0057, "z_score": 1.6636 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.306, "sd_percent_ciliated": 0.306, "z_score": 0.306 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9723, "sd_percent_ciliated": -5.9723, "z_score": -5.9723 } ] }, { "gene": "GPR50", "ensembl_id": "ENSG00000102195", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 50 [Source:HGNC Symbol,Acc:HGNC:4506]", "omim_id": "300207", "functional_summary": "GPR50 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["GPR50", "MTNR1A", "MTNR1B", "RTN4", "TGFBR1", "ADAM17"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000102195", "synonym": "H9, MEL1C", "ortholog_mouse": "Gpr50", "ortholog_xenopus": "mtnr1c", "ortholog_zebrafish": "mtnr1c", "ortholog_drosophila": "moody, Tre1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.8356, "sd_percent_ciliated": 5.498, "z_score": -0.5057, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.19, "sd_percent_ciliated": 3.19, "z_score": 3.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1482, "sd_percent_ciliated": -0.1482, "z_score": -0.1482, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.4777, "sd_percent_ciliated": 1.4777, "z_score": 1.4777, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR63", "ensembl_id": "ENSG00000112218", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "No effect", "description": "G protein-coupled receptor 63 [Source:HGNC Symbol,Acc:HGNC:13302]", "functional_summary": "Gpr63 interacts with Ttc21b to modify the size of the forebrain in Ttc21baln/aln null mutants and provide evidence that the Gpr63 mutation is the likely causal variant for the chromosome 4 QTL affecting brain size(31730647). Overexpression of Gpr63 variants did not appear to affect the number of cells producing cilia (31730647)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.1730647E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM", "G-protein Coupled Orphan Receptors"], "string_link": "https://string-db.org/network/9606/ENSG00000112218", "synonym": "PSP24(BETA), PSP24B", "ortholog_mouse": "Gpr63", "ortholog_xenopus": "gpr63", "ortholog_zebrafish": "gpr63", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.9965, "sd_percent_ciliated": 4.5955, "z_score": 0.3619, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.15, "sd_percent_ciliated": 0.15, "z_score": 0.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.1739, "sd_percent_ciliated": -5.1739, "z_score": -5.1739, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR75", "ensembl_id": "ENSG00000119737", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 75 [Source:HGNC Symbol,Acc:HGNC:4526]", "omim_id": "606704", "functional_summary": "GPR75 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000119737", "synonym": "WI-31133", "ortholog_mouse": "Gpr75", "ortholog_xenopus": "gpr75", "ortholog_zebrafish": "gpr75", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 51.3212, "sd_percent_ciliated": 8.8795, "z_score": 1.6128, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0158, "sd_percent_ciliated": 0.0158, "z_score": 0.0158, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6144, "sd_percent_ciliated": -2.6144, "z_score": -2.6144, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPR83", "ensembl_id": "ENSG00000123901", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 83 [Source:HGNC Symbol,Acc:HGNC:4523]", "omim_id": "605569", "functional_summary": "Suggested to belong to NPY receptor family, which shares common determi nts for ciliary trafficking", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3936473E7", "complex_components": ["GPR83", "MC3R", "MC4R", "GHSR"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Neuropeptide Y receptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000123901", "synonym": "GPR72", "ortholog_mouse": "Gpr83", "ortholog_xenopus": "gpr83", "ortholog_zebrafish": "gpr83", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.6245, "sd_percent_ciliated": 9.1841, "z_score": 0.9226 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.64, "sd_percent_ciliated": 0.64, "z_score": 0.64 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.7029, "sd_percent_ciliated": -7.7029, "z_score": -7.7029 } ] }, { "gene": "GPR88", "ensembl_id": "ENSG00000181656", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Unchanged", "description": "G protein-coupled receptor 88 [Source:HGNC Symbol,Acc:HGNC:4539]", "omim_id": "607468", "functional_summary": "Regulation of D1 dopamine receptor (D1R) sig ling to inhibit cAMP accumulation, whitout affecting B2AR- mediated response. Cilia formation and length were similar between GPR88 knockout and wild-type animals. (40501619)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "23954591, 40501619", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM", "G-protein coupled receptor opsins"], "string_link": "https://string-db.org/network/9606/ENSG00000181656", "ortholog_mouse": "Gpr88", "ortholog_xenopus": "gpr88", "ortholog_zebrafish": "gpr88", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.5962, "sd_percent_ciliated": 9.622, "z_score": 0.6769 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.7992, "sd_percent_ciliated": -5.7992, "z_score": -5.7992 } ] }, { "gene": "GPRC5A", "ensembl_id": "ENSG00000013588", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor class C group 5 member A [Source:HGNC Symbol,Acc:HGNC:9836]", "omim_id": "604138", "functional_summary": "GPRC5A has localized in cilia. GPRC5A is included in a cAMP signalosome in primary cilia. (35695071)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 35695071", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000013588", "synonym": "PEIG-1, RAI3, RAIG1, TIG1", "ortholog_mouse": "Gprc5a", "ortholog_xenopus": "gprc5a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.307, "sd_percent_ciliated": 0.307, "z_score": 0.307, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6679, "sd_percent_ciliated": -2.6679, "z_score": -2.6679, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPRC5C", "ensembl_id": "ENSG00000170412", "overexpression_effects": "Not Reported", "lof_effects": "Altered", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor class C group 5 member C [Source:HGNC Symbol,Acc:HGNC:13309]", "omim_id": "605949", "functional_summary": "GPRC5C regulates olfactory cilia composition and length, thereby controlling odour perception(38110903). GPRC5C deficiency altered the structure of sensory cilia and increased ciliary layer thickness (", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8110903E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000170412", "synonym": "RAIG-3", "ortholog_mouse": "Gprc5c", "ortholog_xenopus": "gprc5cl1", "ortholog_zebrafish": "gprc5c", "screens": {} }, { "gene": "GPSM1", "ensembl_id": "ENSG00000160360", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein signaling modulator 1 [Source:HGNC Symbol,Acc:HGNC:17858]", "omim_id": "609491", "functional_summary": "Also known as AGS3. Regulation fo G尾gamma sig ling pathway to recruits phospho(T94)Tctex-1 to the transition zone. Stabilises the GDP-bound form of G伪i wit IGF-1R to prevent its re- association with G尾gamma and mantain it free.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "25422369, 25550383", "complex_components": {}, "pfam_ids": ["PF13424", "PF02188", "PF13176"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "G-protein-signaling modulator", "GoLoco motif"], "string_link": "https://string-db.org/network/9606/ENSG00000160360", "synonym": "AGS3, DKFZP727I051", "ortholog_mouse": "Gpsm1", "ortholog_c_elegans": "ags-3", "ortholog_xenopus": "gpsm1", "ortholog_zebrafish": "gpsm1a, gpsm1b", "ortholog_drosophila": "pins", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.1703, "sd_percent_ciliated": 3.1088, "z_score": -0.7074, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.527, "sd_percent_ciliated": 0.527, "z_score": 0.527, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6606, "sd_percent_ciliated": -0.6606, "z_score": -0.6606, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GPX4", "ensembl_id": "ENSG00000167468", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione peroxidase 4 [Source:HGNC Symbol,Acc:HGNC:4556]", "omim_id": "138322", "functional_summary": "Mutations in the GPX4 gene cause Spondylometaphyseal Dysplasia (PMID: 9556300, PMID:24706940).", "localization": "Ciliary associated gene, Cytosol, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "9556300, 24706940 ,9556300, 24706940", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000167468", "synonym": "MCSP, PHGPX", "ciliopathy": "Spondylometaphyseal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gpx4", "ortholog_c_elegans": "gpx-1, gpx-2, gpx-6, gpx-7", "ortholog_xenopus": "gpx4", "ortholog_zebrafish": "gpx4a, gpx4b", "ortholog_drosophila": "Gtpx", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.9066, "sd_percent_ciliated": 0.7173, "z_score": 0.4722 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.63, "sd_percent_ciliated": 4.63, "z_score": 4.63 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9734, "sd_percent_ciliated": -0.9734, "z_score": -0.9734 } ] }, { "gene": "GRAP", "ensembl_id": "ENSG00000154016", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "GRB2 related adaptor protein [Source:HGNC Symbol,Acc:HGNC:4562]", "omim_id": "604330", "functional_summary": "GRAP localized to basal body (25613900)", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": ["PF00018", "PF00017"], "domain_descriptions": ["SH2 domain", "SH3 domain", "GRAP", "N-terminal SH3 domain", "SH3-like domain superfamily", "SH2 domain superfamily", "Grb2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000154016", "ortholog_mouse": "Grap", "ortholog_c_elegans": "sem-5", "ortholog_xenopus": "grap", "ortholog_zebrafish": "grapa, grapb", "ortholog_drosophila": "drk", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.4831, "sd_percent_ciliated": 0.764, "z_score": 0.4209, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.8131, "sd_percent_ciliated": -4.8131, "z_score": -4.8131, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GRB2", "ensembl_id": "ENSG00000177885", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "growth factor receptor bound protein 2 [Source:HGNC Symbol,Acc:HGNC:4566]", "omim_id": "108355", "functional_summary": "GRB2 has localized in primary cilia. Grb2 controls phosphorylation of FGFR2 by inhibiting receptor kinase and Shp2 phosphatase activity (23420874)", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 23420874", "complex_components": ["BCAR1", "CBL", "CRK", "GRB2", "PIK3R1", "SH3KBP1", "SOS1", "LAT", "LCP2", "PLCG1", "VAV1", "SHC1", "LYN", "PLCG2", "EGFR", "BCR/ABL fusion", "ITGA6", "ITGB4", "PTPN11", "MUC1", "TNK2", "PDGFRA", "AXL", "ALK", "LTK", "ERRFI1", "CD44", "ERBB2", "VAV2", "PTPN6", "MED28", "NF2", "ZAP70", "ROS1", "ABL1", "BCR"], "pfam_ids": ["PF00018", "PF00017", "PF14604"], "domain_descriptions": ["SH3 domain", "GRB2", "C-terminal SH3 domain", "SH3-like domain superfamily", "SH2 domain superfamily", "Grb2-like", "SH2 domain", "GRB2", "N-terminal SH3 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000177885", "synonym": "NCKAP2", "ortholog_mouse": "Grb2", "ortholog_c_elegans": "sem-5", "ortholog_xenopus": "grb2", "ortholog_zebrafish": "grb2a, grb2b", "ortholog_drosophila": "drk", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.1909, "z_score": -1.1483, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 27.4984, "z_score": -1.2735, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.5551 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 19.4, "z_score": 19.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 19.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.4799, "z_score": -5.4799, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.4799 } ] }, { "gene": "GRHL2", "ensembl_id": "ENSG00000083307", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "grainyhead like transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:2799]", "omim_id": "608576", "functional_summary": "Loss of Grhl2 inhibits organoid morphogenesis and the differentiation of ciliated cells and reduces the expression of both notch and ciliogenesis genes (Mcidas, Rfx2, and Myb) with distinct Grhl2 regulatory sites. The genome editing of other putative target genes reveals roles for zinc finger transcription factor Znf750 and small membrane adhesion glycoprotein in promoting ciliogenesis and barrier function as part of a network of genes coordinately regulated by Grhl2(PMID: 26527742).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development, Transcription regulation", "reference": "2.6527742E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000083307", "synonym": "BOM; DFNA28; FLJ13782; TFCP2L3", "ortholog_mouse": "Grhl2", "ortholog_c_elegans": "grh-1", "ortholog_xenopus": "grhl2", "ortholog_zebrafish": "grhl2a, grhl2b", "ortholog_drosophila": "grh", "screens": [] }, { "gene": "GRHL3", "ensembl_id": "ENSG00000158055", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "grainyhead like transcription factor 3 [Source:HGNC Symbol,Acc:HGNC:25839]", "omim_id": "608317", "functional_summary": "GRHL3 has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF04516", "domain_descriptions": ["CP2 transcription factor", "Transcription factor CP2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000158055", "synonym": "SOM, TFCP2L4", "ortholog_mouse": "Grhl3", "ortholog_c_elegans": "grh-1", "ortholog_xenopus": "grhl3", "ortholog_zebrafish": "grhl3", "ortholog_drosophila": "grh", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2272, "sd_percent_ciliated": -0.2272, "z_score": -0.2272, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GRIN2B", "ensembl_id": "ENSG00000273079", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutamate ionotropic receptor NMDA type subunit 2B [Source:HGNC Symbol,Acc:HGNC:4586]", "omim_id": "138252", "functional_summary": "GRIN2B has localized in basal body, transition zone,cilia.", "localization": "basal body, transition zone,cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["GRIN1", "GRIN2B", "PRR7", "CAMK2A", "RASGRF1", "APP", "NETO1", "DRD1", "HRH3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000273079", "synonym": "GLUN2B, NMDAR2B, NR2B", "ortholog_mouse": "Grin2b", "ortholog_c_elegans": "nmr-2", "ortholog_xenopus": "grin2b", "ortholog_zebrafish": "grin2ba, grin2bb", "ortholog_drosophila": "Nmdar2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 20.0845, "sd_percent_ciliated": 22.592, "z_score": -2.1717 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.89, "sd_percent_ciliated": 3.89, "z_score": 3.89 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6131, "sd_percent_ciliated": -1.6131, "z_score": -1.6131 } ] }, { "gene": "GRIP1", "ensembl_id": "ENSG00000155974", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutamate receptor interacting protein 1 [Source:HGNC Symbol,Acc:HGNC:18708]", "omim_id": "604597", "functional_summary": "ARL3T31A/C118F mutations downregulate IQUB, RAB3IP, GRIP1, and UNC13D, leading to significantly elongated cilia and impaired retrograde transport of cilia ( 38457249).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8457249E7", "complex_components": ["GRIA2", "GRIP1", "PICK1", "ESR1", "JUN", "GRIPAP1"], "pfam_ids": ["PF00595", "PF17820"], "domain_descriptions": ["PDZ domain", "PDZ superfamily", "PDZ domain 6", "Glutamate receptor-interacting protein 1/2"], "string_link": "https://string-db.org/network/9606/ENSG00000155974", "ortholog_mouse": "Grip1", "ortholog_xenopus": "grip1", "ortholog_zebrafish": "grip1", "ortholog_drosophila": "Grip", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.0153, "sd_percent_ciliated": 11.3353, "z_score": -0.6051, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.522, "sd_percent_ciliated": 0.522, "z_score": 0.522, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.99, "sd_percent_ciliated": -0.99, "z_score": -0.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GRK1", "ensembl_id": "ENSG00000281988", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor kinase 1 [Source:HGNC Symbol,Acc:HGNC:10013]", "omim_id": "180381", "functional_summary": "Phosphorylation of opsins, playing a key role in the shutdown of the rod and cone cascades ( 25422369). Peripherally associated proteins anchored to the membrane by lipid modifications. It i ctivates rhodopsin through phosphorylation ( 25550383).", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "21695114, 21659505", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281988", "synonym": "GPRK1, RHOK, RK", "ortholog_mouse": "Grk1", "ortholog_c_elegans": "grk-1", "ortholog_xenopus": "grk1", "ortholog_zebrafish": "grk1a", "ortholog_drosophila": "Gprk2", "screens": {} }, { "gene": "GRK2", "ensembl_id": "ENSG00000173020", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor kinase 2 [Source:HGNC Symbol,Acc:HGNC:289]", "omim_id": "109635", "functional_summary": "Positive regulation of Sonic Hedgehog sig ling, regulating phosphorylation events required for ciliary accumulation and activation of smoothened (21695114 ). Modulates dy mic intracellular trafficking of Smo and contributes to the positive effect of Gas8 on Smo sig ling. Modulates microtubule organisation through the phosphorylation of cytoplasmic tubulin or other proteins (21659505).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "23185275, 17450132, 21317289, 33200460 ,33200460; 21695114, 22277298", "complex_components": ["CAV1", "GRK2", "HDAC6", "OXTR", "ADRB1"], "pfam_ids": ["PF00069", "PF00169", "PF00615"], "domain_descriptions": ["GPCR kinase", "Protein kinase domain", "AGC-kinase", "C-terminal", "Pleckstrin homology domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PH-like domain superfamily", "RGS domain", "Protein kinase", "ATP binding site", "RGS domain superfamily", "RGS", "subdomain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000173020", "synonym": "ADRBK1, BARK1", "ciliopathy": "Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Grk2", "ortholog_c_elegans": "grk-2", "ortholog_drosophila": "Gprk1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 166, "sd_percent_ciliated": 166, "z_score": 166, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "GRM1", "ensembl_id": "ENSG00000152822", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutamate metabotropic receptor 1 [Source:HGNC Symbol,Acc:HGNC:4593]", "omim_id": "604473", "functional_summary": "Mutations in the GRM1 gene cause Spinocerebellar Ataxia (PMID: 29100096).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9100096E7", "complex_components": ["GRM1", "GABBR1", "GABBR2", "CASR"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000152822", "synonym": "GPRC1A, MGLU1, MGLUR1, PPP1R85", "ortholog_mouse": "Grm1", "ortholog_c_elegans": "mgl-2", "ortholog_xenopus": "grm1", "ortholog_zebrafish": "grm1a, grm1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.2097, "sd_percent_ciliated": 11.468, "z_score": -0.4603, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6966, "sd_percent_ciliated": -0.6966, "z_score": -0.6966, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GSK3B", "ensembl_id": "ENSG00000082701", "overexpression_effects": "Not Reported", "lof_effects": "Inhibited ciliogenesis", "percent_ciliated_cells_effects": "Decreased", "description": "glycogen synthase kinase 3 beta [Source:HGNC Symbol,Acc:HGNC:4617]", "omim_id": "605004", "functional_summary": "Involved in primary cilia elongation, microtubule assembly, stability and dy mics. Modulates CRMP- 2 ciliary localisation, and its ephosphorylated state is required for ciliary function (23185275). Ciliary- mainte nce sig lling network, its disruption causes loss of cilia (17450132). Phosphorylates Sufu and stabilises it against Shh sig ling-induced degradation (21317289). Ciliogenesis was inhibited … by knockout of GSK3β in cells. Gsk3b modulates cilia length through Torc1 signaling. GSK3 inhibition by lithium induces long cilia phenotype. Combined inactivation of pVHL and GSK3β leads to loss of cilia. (17450132) (22308353)", "localization": "basal body, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation, Cilia length regulation", "reference": "21985783, 17450132, 22308353 ,17450132", "complex_components": ["GSK3B", "PRUNE1", "AXIN1", "CTNNB1", "PPP2R5A", "APC", "TSC1", "TSC2", "CSF3R", "FBXW7", "FOXM1", "CDX2", "GID8", "GSKIP", "PRKAR2A", "DNM1L", "DVL1", "PHF19", "HSP90AA1", "PKM", "SRPK1", "WNK1", "AR"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Glycogen synthase kinase 3", "catalytic domain", "Glycogen Synthase Kinase-3"], "string_link": "https://string-db.org/network/9606/ENSG00000082701", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gsk3b", "ortholog_c_elegans": "gsk-3", "ortholog_xenopus": "gsk3b", "ortholog_zebrafish": "gsk3ba, gsk3bb", "ortholog_drosophila": "gskt, sgg", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.8978, "sd_percent_ciliated": 9.1035, "z_score": -0.0135 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 14.7, "sd_percent_ciliated": 14.7, "z_score": 14.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4302, "sd_percent_ciliated": -0.4302, "z_score": -0.4302 } ] }, { "gene": "GSN", "ensembl_id": "ENSG00000148180", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "gelsolin [Source:HGNC Symbol;Acc:HGNC:4620]", "omim_id": "137350", "functional_summary": "Among the ciliogenesis modulators with high confirmation screen scores are two Gelsolin (GSN) family proteins GSN and AVIL, which regulate cytoskeletal actin organization by severing actin filaments11. Depletion of GSN proteins by two independent siRNAs significantly reduced ciliated cell numbers, suggesting that actin filament severing is involved in ciliogenesis (20393563).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "20393563 ,20393563", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000148180", "synonym": "DKFZP313L0718", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gsn", "ortholog_c_elegans": "gsnl-1", "ortholog_xenopus": "gsn", "ortholog_zebrafish": "gsna, gsnb", "ortholog_drosophila": "Gel, qua", "screens": [] }, { "gene": "GSTM1", "ensembl_id": "ENSG00000134184", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione S-transferase mu 1 [Source:HGNC Symbol,Acc:HGNC:4632]", "omim_id": "138350", "functional_summary": "GSTM1 has localized in ciliary tip, transition zone.", "localization": "cilia ,transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF02798", "PF00043"], "domain_descriptions": ["Glutathione S-transferase", "Mu class", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "Glutathione S-transferase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000134184", "synonym": "GST1, H-B, MU", "ortholog_mouse": "Gstm1, Gstm2, Gstm3, Gstm6", "ortholog_c_elegans": "gst-10, gst-23", "ortholog_xenopus": "gstm1", "ortholog_zebrafish": "gstm.1, gstm.2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.4568, "sd_percent_ciliated": 1.6313, "z_score": 0.1754, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.33, "sd_percent_ciliated": 1.33, "z_score": 1.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5079, "sd_percent_ciliated": -1.5079, "z_score": -1.5079, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GSTM2", "ensembl_id": "ENSG00000213366", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione S-transferase mu 2 [Source:HGNC Symbol,Acc:HGNC:4634]", "omim_id": "138380", "functional_summary": "GSTM2 has localized in ciliary tip, primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00043", "PF02798", "PF14497"], "domain_descriptions": ["Glutathione S-transferase", "Mu class", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione S-transferase superfamily", "Glutathione transferase family"], "string_link": "https://string-db.org/network/9606/ENSG00000213366", "synonym": "GST4", "ortholog_mouse": "Gstm7", "ortholog_xenopus": "gstm1", "ortholog_zebrafish": "gstm.1, gstm.2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.052, "sd_percent_ciliated": 16.3082, "z_score": 0.1263, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0601, "sd_percent_ciliated": 0.0601, "z_score": 0.0601, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8026, "sd_percent_ciliated": -1.8026, "z_score": -1.8026, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GSTM3", "ensembl_id": "ENSG00000134202", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione S-transferase mu 3 [Source:HGNC Symbol,Acc:HGNC:4635]", "omim_id": "138390", "functional_summary": "GSTM3 has localized in ciliary tip, transition zone. GSTM3, an enzyme of broad extrahepatic occurrence, was observable in the ciliated airway epithelium and smooth muscle of the lung. (8242618)", "localization": "cilia ,transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cardiac & muscle development, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273, 8242618", "complex_components": {}, "pfam_ids": ["PF00043", "PF02798"], "domain_descriptions": ["Glutathione S-transferase", "Mu class", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "Glutathione S-transferase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000134202", "synonym": "GST5, GSTM3TV2", "ortholog_mouse": "Gstm5", "ortholog_c_elegans": "gst-10", "ortholog_xenopus": "gstm1", "ortholog_zebrafish": "gstm.1, gstm.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.0256, "sd_percent_ciliated": 2.0368, "z_score": 0.002 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.34, "sd_percent_ciliated": 4.34, "z_score": 4.34 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5442, "sd_percent_ciliated": -3.5442, "z_score": -3.5442 } ] }, { "gene": "GSTM4", "ensembl_id": "ENSG00000168765", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione S-transferase mu 4 [Source:HGNC Symbol,Acc:HGNC:4636]", "omim_id": "138333", "functional_summary": "GSTM4 has localized in ciliary tip, transition zone. Mainly localized to the cytosol. In addition localized to the microtubules, cytokinetic bridge, primary cilium, primary cilium tip and primary cilium transition zone.", "localization": "cilia ,transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273, https://www.proteinatlas.org", "complex_components": {}, "pfam_ids": ["PF00043", "PF02798", "PF14497"], "domain_descriptions": ["Glutathione S-transferase", "Mu class", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "Glutathione S-transferase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000168765", "ortholog_mouse": "Gstm4", "ortholog_c_elegans": "gst-10", "ortholog_xenopus": "gstm1", "ortholog_zebrafish": "gstm.1, gstm.2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.671, "sd_percent_ciliated": 0.671, "z_score": 0.671, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4781, "sd_percent_ciliated": -3.4781, "z_score": -3.4781, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GSTM5", "ensembl_id": "ENSG00000134201", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione S-transferase mu 5 [Source:HGNC Symbol,Acc:HGNC:4637]", "omim_id": "138385", "functional_summary": "GSTM5 has localized in ciliary tip, transition zone.", "localization": "cilia ,transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00043", "PF02798"], "domain_descriptions": ["Glutathione S-transferase", "Mu class", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "Glutathione S-transferase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000134201", "ortholog_mouse": "Gstm1, Gstm2, Gstm3, Gstm6", "ortholog_c_elegans": "gst-10, gst-23", "ortholog_xenopus": "gstm1", "ortholog_zebrafish": "gstm.1, gstm.2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.8469, "sd_percent_ciliated": 0.7516, "z_score": 1.1919, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.72, "sd_percent_ciliated": 1.72, "z_score": 1.72, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "GSTP1", "ensembl_id": "ENSG00000084207", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "glutathione S-transferase pi 1 [Source:HGNC Symbol,Acc:HGNC:4638]", "omim_id": "134660", "functional_summary": "The cilia of the respiratory epithelium of the larynx showed positivity for GSTP1 ( 9511175).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "9511175.0", "complex_components": ["GSTP1", "PCSK9"], "pfam_ids": ["PF02798", "PF00043", "PF14497"], "domain_descriptions": ["Glutathione S-transferase", "Pi class", "Glutathione S-transferase", "N-terminal", "Glutathione S-transferase", "C-terminal", "Glutathione S-transferase", "C-terminal-like", "Thioredoxin-like superfamily", "Glutathione S-transferase", "C-terminal domain superfamily", "Glutathione transferase family", "Glutathione S-transferase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000084207", "synonym": "FAEES3, GST3, GSTP", "ortholog_mouse": "Gstp1, Gstp2, Gstp3", "ortholog_c_elegans": "F56A4.3, F56A4.4, gst-1, gst-10, gst-23, gst-25, gst-41, Y45G12C.3", "ortholog_xenopus": "LOC100490385, LOC101730710", "ortholog_zebrafish": "gstp1.1, gstp1.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.8462, "sd_percent_ciliated": 6.4305, "z_score": 1.4341 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.19, "sd_percent_ciliated": 4.19, "z_score": 4.19 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.29, "sd_percent_ciliated": 1.29, "z_score": 1.29 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.42, "sd_percent_ciliated": 1.42, "z_score": 1.42 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4602, "sd_percent_ciliated": -3.4602, "z_score": -3.4602 } ] }, { "gene": "GUCA1A", "ensembl_id": "ENSG00000048545", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "guanylate cyclase activator 1A [Source:HGNC Symbol,Acc:HGNC:4678]", "omim_id": "600364", "functional_summary": "Mutations in the GUCA1A gene cause Cone-Rod Dystrophy (PMID: 15953638, PMID:15790869).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15953638, 15790869 ,15953638, 15790869", "complex_components": ["GUCA1A", "GUCY2D", "RD3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000048545", "synonym": "C6ORF131, COD3, CORD14, DJ139D8.6, GCAP, GCAP-1, GCAP-I, GCAP1, GUCA, GUCA1", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Guca1a", "ortholog_zebrafish": "guca1aa, guca1ab.1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.4811, "sd_percent_ciliated": 1.4782, "z_score": 0.4206, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.03, "sd_percent_ciliated": 3.03, "z_score": 3.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5024, "sd_percent_ciliated": 0.5024, "z_score": 0.5024, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GUCA1B", "ensembl_id": "ENSG00000112599", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "guanylate cyclase activator 1B [Source:HGNC Symbol,Acc:HGNC:4679]", "omim_id": "602275", "functional_summary": "GUCA1B has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 15452722", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Recoverin family"], "string_link": "https://string-db.org/network/9606/ENSG00000112599", "synonym": "GCAP-2, GCAP-II, GCAP2, RP48", "ortholog_mouse": "Guca1b", "ortholog_zebrafish": "guca1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.8237, "sd_percent_ciliated": 0.0544, "z_score": 0.8256, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.318, "sd_percent_ciliated": 0.318, "z_score": 0.318, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.7015, "sd_percent_ciliated": -5.7015, "z_score": -5.7015, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "GUCY2D", "ensembl_id": "ENSG00000132518", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "guanylate cyclase 2D, retinal [Source:HGNC Symbol,Acc:HGNC:4689]", "omim_id": "600179", "functional_summary": "CG34357, a Drosophila homologue of Gucy2d, localises to chordoto l cilia and its removal impairs sensory function in adult flies.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "https://doi.org/10.1101/2020.12.15.417840, 23035049, 10647719 ,23035049; 10647719", "complex_components": ["GUCY2D", "RD3", "GUCA1A"], "pfam_ids": ["PF07714", "PF00211", "PF01094", "PF07701"], "domain_descriptions": ["Protein kinase domain", "Adenylyl cyclase class-3/4/guanylyl cyclase", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Receptor", "ligand binding region", "Protein kinase-like domain superfamily", "Haem NO binding associated", "Adenylyl cyclase class-4/guanylyl cyclase", "conserved site", "Periplasmic binding protein-like I", "Nucleotide cyclase", "Cyclic nucleotide synthase"], "string_link": "https://string-db.org/network/9606/ENSG00000132518", "synonym": "CORD6, CYGD, GUC1A4, GUC2D, LCA, LCA1, RETGC, RETGC-1, ROS-GC, ROS-GC1", "ciliopathy": "Leber Congenital Amaurosis; Cone-Rod Dystrophy", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Gucy2e", "ortholog_c_elegans": "gcy-1, gcy-14, gcy-2, gcy-20, gcy-22, gcy-27, gcy-3, odr-1", "ortholog_xenopus": "gucy2d", "ortholog_zebrafish": "gucy2d, gucy2f", "ortholog_drosophila": "Gucy2d", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.5628, "sd_percent_ciliated": 1.7388, "z_score": -0.4176 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4278, "sd_percent_ciliated": -3.4278, "z_score": -3.4278 } ] }, { "gene": "H1-7", "ensembl_id": "ENSG00000187166", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H1.7 linker histone [Source:HGNC Symbol,Acc:HGNC:24893]", "omim_id": "618565", "functional_summary": "H1-7 has localized in flagella. H1-7 (H1FNT) is a testis-specific histone H1 linker protein, expressed intronless. It is critical for spermiogenesis, chromatin condensation, and histone-protamine transition in sperm. Lindication: localizes in the nucleus / chromatin.", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/, https://www.genecards.org", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000187166", "synonym": "H1FNT, H1T2, HANP1", "ortholog_mouse": "H1f7", "screens": {} }, { "gene": "H3-3A", "ensembl_id": "ENSG00000163041", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.3 histone A [Source:HGNC Symbol,Acc:HGNC:4764]", "omim_id": "601128", "functional_summary": "H3-3A has localized in flagella. Variant histone H3 which replaces conventional H3 in active genes. (https://www.genecards.org)", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "https://www.proteinatlas.org/, https://www.genecards.org", "complex_components": ["ASF1A", "ASF1B", "H3-3A", "H4C1", "HAT1", "HIRA", "IPO4", "NASP", "RBBP4"], "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000163041", "synonym": "H3.3A, H3F3, H3F3A", "ortholog_mouse": "H3f3a", "ortholog_c_elegans": "his-71, his-72", "ortholog_xenopus": "h3-3b", "ortholog_zebrafish": "h3f3a, h3f3b.1, h3f3c, h3f3d, si:ch1073-429i10.3", "ortholog_drosophila": "His3.3A, His3.3B", "screens": {} }, { "gene": "H3-3B", "ensembl_id": "ENSG00000132475", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.3 histone B [Source:HGNC Symbol,Acc:HGNC:4765]", "omim_id": "601058", "functional_summary": "H3-3B has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "https://www.genecards.org, https://www.proteinatlas.org/,", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000132475", "synonym": "H3.3B, H3F3B", "ortholog_mouse": "H3f3b", "ortholog_c_elegans": "his-71, his-72", "ortholog_xenopus": "h3-3b", "ortholog_zebrafish": "h3f3a, h3f3b.1, h3f3c, h3f3d, si:ch1073-429i10.3", "ortholog_drosophila": "His3.3A, His3.3B", "screens": {} }, { "gene": "H3-4", "ensembl_id": "ENSG00000285435", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.4 histone, cluster member [Source:HGNC Symbol,Acc:HGNC:4778]", "omim_id": "602820", "functional_summary": "H3-4 has localized in flagella. H3-4 is a replication-dependent histone in the H3 family (https://www.genecards.org)", "localization": "flagella", "reference": "https://www.proteinatlas.org/, https://www.genecards.org", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000285435", "synonym": "H3.4, H3/G, H3C16, H3FT, H3T, HIST3H3", "ortholog_mouse": "H3f4", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3-5", "ensembl_id": "ENSG00000188375", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.5 histone [Source:HGNC Symbol,Acc:HGNC:33164]", "omim_id": "616134", "functional_summary": "H3-5 has localized in flagella. H3-5 is a replication-dependent histone H3 variant; no direct evidence linking to cilia or ciliogenesis in literature.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/, https://www.ncbi.nlm.nih.gov/gene/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000188375", "synonym": "H3.3C, H3.5, H3F3C", "ortholog_mouse": "H3f3a, H3f3b", "ortholog_c_elegans": "his-71, his-72", "ortholog_xenopus": "h3-3b", "ortholog_zebrafish": "h3f3a, h3f3b.1, h3f3c, h3f3d, si:ch1073-429i10.3", "ortholog_drosophila": "His3.3A, His3.3B", "screens": {} }, { "gene": "H3-7", "ensembl_id": "ENSG00000273213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.7 histone (putative) [Source:HGNC Symbol,Acc:HGNC:32060]", "functional_summary": "H3-7 has localized in flagella. H3-7 is a putative histone H3 variant transcript with intact CDS but may be pseudogenizing.", "localization": "flagella", "reference": "https://www.proteinatlas.org/, https://www.genecards.org", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000273213", "synonym": "H3-2, H3.7, HIST2H3PS2, P06", "screens": {} }, { "gene": "H3C1", "ensembl_id": "ENSG00000275714", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 1 [Source:HGNC Symbol,Acc:HGNC:4766]", "omim_id": "602810", "functional_summary": "H3C1 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["DNTT", "DNTTIP2", "H2AC20", "H2BC21", "H3C1", "H4C1", "ASF1A", "ASF1B", "CHAF1A", "CHAF1B", "HAT1", "IPO4", "NASP", "RBBP4", "HIRA", "CHEK2", "ST13", "TLE1", "CREBBP", "HES1", "KAT2B", "NONO", "PARP1", "POLR2A", "SRC", "ACTB", "BANF1", "EMD", "H1-1", "HDAC1", "HDAC3", "LMO7", "RBL1", "BANF2", "C1QBP", "HNRNPU", "LMNA", "LMNB1", "MCM2", "MCM4", "MCM6", "NMI", "RB1", "RBL2", "SAP130", "CHD4", "DPY30", "MED4", "RCOR1", "SAP18", "SMARCB1", "SMARCC1", "SMARCC2", "SPTAN1", "TBL1XR1", "TBL1Y", "TRIM28", "CDAN1", "ACTL6A", "ANP32E", "BRD8", "DMAP1", "EP400", "EPC1", "EPC2", "H2AZ1", "H2BC4", "ING3", "IPO9", "KAT5", "MORF4L1", "MORF4L2", "MRGBP", "PRKDC", "RUVBL1", "RUVBL2", "SRCAP", "TRRAP", "VPS72", "XRCC5", "XRCC6", "YEATS4", "ZNHIT1"], "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000275714", "synonym": "H3/A, H3FA, HIST1H3A", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C10", "ensembl_id": "ENSG00000278828", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 10 [Source:HGNC Symbol,Acc:HGNC:4775]", "omim_id": "602818", "functional_summary": "H3C10 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000278828", "synonym": "H3/K, H3F1K, H3FK, HIST1H3H", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C11", "ensembl_id": "ENSG00000275379", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 11 [Source:HGNC Symbol,Acc:HGNC:4771]", "omim_id": "602814", "functional_summary": "H3C11 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000275379", "synonym": "H3.F, H3/F, H3FF, HIST1H3I", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C12", "ensembl_id": "ENSG00000197153", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 12 [Source:HGNC Symbol,Acc:HGNC:4774]", "omim_id": "602817", "functional_summary": "H3C12 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000197153", "synonym": "H3/J, H3FJ, HIST1H3J", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C13", "ensembl_id": "ENSG00000183598", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 13 [Source:HGNC Symbol,Acc:HGNC:25311]", "functional_summary": "H3C13 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000183598", "synonym": "HIST2H3D", "ortholog_mouse": "H3c13, H3c14, H3c15, H3c2, H3c3, H3c4, H3c6, H3c7", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "ortholog_xenopus": "h3c13, h3c14, h3c15, LOC100486653", "ortholog_zebrafish": "h3c13a, hist2h3c, si:ch1073-153i20.2, si:ch211-113a14.27, si:ch73-36p18.2, si:dkey-108k21.25, si:dkey-261m9.8, zgc:162611, zgc:173552", "ortholog_drosophila": "His3:CG31613, His3:CG33803, His3:CG33806, His3:CG33809, His3:CG33812, His3:CG33815, His3:CG33818, His3:CG33821, His3:CG33824, His3:CG33827, His3:CG33830, His3:CG33833, His3:CG33836, His3:CG33839, His3:CG33842, His3:CG33845, His3:CG33848, His3:CG33851, His3:CG33854, His3:CG33857, His3:CG33860, His3:CG33863, His3:CG33866", "screens": {} }, { "gene": "H3C14", "ensembl_id": "ENSG00000203811", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 14 [Source:HGNC Symbol,Acc:HGNC:20503]", "omim_id": "142780", "functional_summary": "H3C14 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000203811", "synonym": "H3, H3.2, H3/M, H3F2, H3FM, HIST2H3C, MGC9629", "ortholog_mouse": "H3c13, H3c14, H3c15, H3c2, H3c3, H3c4, H3c6, H3c7", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "ortholog_xenopus": "h3c13, h3c14, h3c15, LOC100486653", "ortholog_zebrafish": "h3c13a, hist2h3c, si:ch1073-153i20.2, si:ch211-113a14.27, si:ch73-36p18.2, si:dkey-108k21.25, si:dkey-261m9.8, zgc:162611, zgc:173552", "ortholog_drosophila": "His3:CG31613, His3:CG33803, His3:CG33806, His3:CG33809, His3:CG33812, His3:CG33815, His3:CG33818, His3:CG33821, His3:CG33824, His3:CG33827, His3:CG33830, His3:CG33833, His3:CG33836, His3:CG33839, His3:CG33842, His3:CG33845, His3:CG33848, His3:CG33851, His3:CG33854, His3:CG33857, His3:CG33860, His3:CG33863, His3:CG33866", "screens": {} }, { "gene": "H3C15", "ensembl_id": "ENSG00000203852", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 15 [Source:HGNC Symbol,Acc:HGNC:20505]", "functional_summary": "H3C15 has localized in flagella. Encodes a replication-dependent histone that is a member of the histone H3 family; intronless gene in histone cluster. (GeneCards)", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/, https://www.genecards.org", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000203852", "synonym": "H3/N, H3/O, HIST2H3A", "ortholog_mouse": "H3c13, H3c14, H3c15, H3c2, H3c3, H3c4, H3c6, H3c7", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "ortholog_xenopus": "h3c13, h3c14, h3c15, LOC100486653", "ortholog_zebrafish": "h3c13a, hist2h3c, si:ch1073-153i20.2, si:ch211-113a14.27, si:ch73-36p18.2, si:dkey-108k21.25, si:dkey-261m9.8, zgc:162611, zgc:173552", "ortholog_drosophila": "His3:CG31613, His3:CG33803, His3:CG33806, His3:CG33809, His3:CG33812, His3:CG33815, His3:CG33818, His3:CG33821, His3:CG33824, His3:CG33827, His3:CG33830, His3:CG33833, His3:CG33836, His3:CG33839, His3:CG33842, His3:CG33845, His3:CG33848, His3:CG33851, His3:CG33854, His3:CG33857, His3:CG33860, His3:CG33863, His3:CG33866", "screens": {} }, { "gene": "H3C2", "ensembl_id": "ENSG00000286522", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 2 [Source:HGNC Symbol,Acc:HGNC:4776]", "omim_id": "602819", "functional_summary": "H3C2 has localized in flagella. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. (GeneCards)", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/, https://www.genecards.org", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000286522", "synonym": "H3/L, H3FL, HIST1H3B", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c2, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C3", "ensembl_id": "ENSG00000287080", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 3 [Source:HGNC Symbol,Acc:HGNC:4768]", "omim_id": "602812", "functional_summary": "H3C3 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000287080", "synonym": "H3.1, H3/C, H3FC, HIST1H3C", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C4", "ensembl_id": "ENSG00000197409", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 4 [Source:HGNC Symbol,Acc:HGNC:4767]", "omim_id": "602811", "functional_summary": "H3C4 has localized in flagella. H3C4 is a replication-dependent histone H3 variant; annotated under cilium organization in HPA.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000197409", "synonym": "H3/B, H3FB, HIST1H3D", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C6", "ensembl_id": "ENSG00000274750", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 6 [Source:HGNC Symbol,Acc:HGNC:4769]", "omim_id": "602813", "functional_summary": "H3C6 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000274750", "synonym": "H3.1, H3/D, H3FD, HIST1H3E", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C7", "ensembl_id": "ENSG00000277775", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 7 [Source:HGNC Symbol,Acc:HGNC:4773]", "omim_id": "602816", "functional_summary": "H3C7 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000277775", "synonym": "H3/I, H3FI, HIST1H3F", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3C8", "ensembl_id": "ENSG00000273983", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3 clustered histone 8 [Source:HGNC Symbol,Acc:HGNC:4772]", "omim_id": "602815", "functional_summary": "H3C8 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000273983", "synonym": "H3/H, H3FH, HIST1H3G", "ortholog_mouse": "H3c1, H3c10, H3c11, H3c8", "ortholog_c_elegans": "his-13, his-17, his-2, his-25, his-27, his-32, his-40, his-45, his-49, his-55, his-59, his-6, his-63, his-9", "screens": {} }, { "gene": "H3Y1", "ensembl_id": "ENSG00000269466", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.Y histone 1 [Source:HGNC Symbol,Acc:HGNC:43735]", "functional_summary": "H3Y1 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000269466", "synonym": "H3.Y, H3.Y.1", "ortholog_c_elegans": "his-70", "screens": {} }, { "gene": "H3Y2", "ensembl_id": "ENSG00000268799", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "H3.Y histone 2 [Source:HGNC Symbol,Acc:HGNC:43734]", "functional_summary": "H3Y2 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00125", "domain_descriptions": ["Histone H3/CENP-A", "Histone H2A/H2B/H3", "Histone-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000268799", "synonym": "H3.X, H3.Y.2", "ortholog_c_elegans": "his-69, his-74", "screens": {} }, { "gene": "HADHB", "ensembl_id": "ENSG00000138029", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Source:HGNC Symbol,Acc:HGNC:4803]", "omim_id": "143450", "functional_summary": "HADHB has localized in flagella.", "localization": "flagella, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["HADHA", "HADHB"], "pfam_ids": ["PF00108", "PF02803"], "domain_descriptions": ["Thiolase-like", "Thiolase", "N-terminal", "Thiolase", "Thiolase", "active site", "Thiolase", "conserved site", "Thiolase", "acyl-enzyme intermediate active site", "Thiolase", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000138029", "synonym": "MTPB", "ortholog_mouse": "Hadhb", "ortholog_c_elegans": "hadb-1", "ortholog_xenopus": "hadhb", "ortholog_zebrafish": "hadhb", "ortholog_drosophila": "Mtpβ", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.5235, "z_score": 0.3236, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 48.9571, "z_score": 1.3264, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.0746 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.88, "z_score": 1.88, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.88 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6711, "z_score": -5.6711, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.6711 } ] }, { "gene": "HAP1", "ensembl_id": "ENSG00000173805", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "huntingtin associated protein 1 [Source:HGNC Symbol,Acc:HGNC:4812]", "omim_id": "600947", "functional_summary": "HTT-HAP1-dy ctin complex facilitates microtubule dependent vesicular transport. Regulates PCM1 trafficking and interacts with and huntingtin to control ciliogenesis. Depletion leads to dispersion of PCM1 from centrosomes and reduced ciliogenesis in cells. (21985783).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "18273441, 17205356, 20375059, 21985783 ,21985783", "complex_components": ["AHI1", "HAP1"], "pfam_ids": "PF04849", "domain_descriptions": ["HAP1", "N-terminal", "Intracellular Trafficking Regulator"], "string_link": "https://string-db.org/network/9606/ENSG00000173805", "synonym": "HAP2, HHLP1, HIP5, HLP", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hap1", "ortholog_c_elegans": "trak-1", "ortholog_xenopus": "hap1", "ortholog_zebrafish": "hap1", "ortholog_drosophila": "milt", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5094, "sd_percent_ciliated": 1.9236, "z_score": -0.424, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8491, "sd_percent_ciliated": -2.8491, "z_score": -2.8491, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HARS1", "ensembl_id": "ENSG00000170445", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "histidyl-tRNA synthetase 1 [Source:HGNC Symbol,Acc:HGNC:4816]", "omim_id": "142810", "functional_summary": "Mutations in the HARS1 gene cause Usher Syndrome (PMID: 22279524).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "2.2279524E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000170445", "synonym": "HARS, HISRS, USH3B", "ortholog_mouse": "Hars1", "ortholog_c_elegans": "hars-1", "ortholog_xenopus": "hars1, hars2", "ortholog_zebrafish": "hars", "ortholog_drosophila": "HisRS", "screens": {} }, { "gene": "HASPIN", "ensembl_id": "ENSG00000177602", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "histone H3 associated protein kinase [Source:HGNC Symbol,Acc:HGNC:19682]", "omim_id": "609240", "functional_summary": "Haspin is active in quiescent cells, where it phosphorylates threonine 3 of histone H3, a known mitotic Haspin substrate. Forcing Dido3 detachment from the chromatin prevents Haspin inhibition from impacting cilia dy mics, suggesting that Haspin activity is required for the relocalization of Dido3–HDAC6 to the basal body ( 34299370). Cells defective in Haspin activity exhibit longer primary cilia and a strong delay in cilia resorption upon cell cycle reentry. (34299370)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "3.429937E7", "complex_components": {}, "pfam_ids": "PF12330", "domain_descriptions": ["Protein kinase domain", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Serine/threonine-protein kinase haspin", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000177602", "synonym": "GSG2", "ortholog_mouse": "Haspin", "ortholog_c_elegans": "C06E4.5, hasp-1, hasp-2, Y73B6A.1", "ortholog_xenopus": "haspin", "ortholog_zebrafish": "haspin", "ortholog_drosophila": "Haspin", "screens": {} }, { "gene": "HAUS1", "ensembl_id": "ENSG00000152240", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "HAUS augmin like complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:25174]", "omim_id": "608775", "functional_summary": "HAUS1 has localized in flagella.", "localization": "flagella, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://www.proteinatlas.org/ ,10.1101/2020.05.05.20091504", "complex_components": ["HAUS1", "HAUS2", "HAUS3", "HAUS4", "HAUS5", "HAUS6", "HAUS7", "HAUS8"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000152240", "synonym": "CCDC5, FLJ40084, HEI-C, HST1461", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Haus1", "ortholog_xenopus": "haus1", "ortholog_zebrafish": "haus1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 9.61, "sd_percent_ciliated": 9.61, "z_score": 9.61, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.246, "sd_percent_ciliated": -1.246, "z_score": -1.246, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HAUS3", "ensembl_id": "ENSG00000214367", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "HAUS augmin like complex subunit 3 [Source:HGNC Symbol,Acc:HGNC:28719]", "omim_id": "613430", "functional_summary": "HAUS3 has localized in basal body.", "localization": "cilia,basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["HAUS1", "HAUS2", "HAUS3", "HAUS4", "HAUS5", "HAUS6", "HAUS7", "HAUS8"], "pfam_ids": "PF14932", "domain_descriptions": ["HAUS augmin-like complex subunit 3", "HAUS augmin-like complex subunit 3", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000214367", "synonym": "C4ORF15, DGT3, IT1, MGC4701", "ortholog_mouse": "Haus3", "ortholog_xenopus": "haus3", "ortholog_zebrafish": "haus3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.71, "sd_percent_ciliated": 6.71, "z_score": 6.71, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.7785, "sd_percent_ciliated": 2.7785, "z_score": 2.7785, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HAUS6", "ensembl_id": "ENSG00000147874", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "HAUS augmin like complex subunit 6 [Source:HGNC Symbol,Acc:HGNC:25948]", "omim_id": "613433", "functional_summary": "HAUS6 has localized in flagella.", "localization": "flagella, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": ["HAUS1", "HAUS2", "HAUS3", "HAUS4", "HAUS5", "HAUS6", "HAUS7", "HAUS8"], "pfam_ids": "PF14661", "domain_descriptions": ["HAUS augmin-like complex subunit 6", "HAUS augmin-like complex subunit 6", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000147874", "synonym": "DGT6, FAM29A, FLJ20060, KIAA1574", "ortholog_mouse": "Haus6", "ortholog_xenopus": "haus6", "ortholog_zebrafish": "haus6", "ortholog_drosophila": "dgt6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.91, "sd_percent_ciliated": 6.91, "z_score": 6.91, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8258, "sd_percent_ciliated": -2.8258, "z_score": -2.8258, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HAUS7", "ensembl_id": "ENSG00000213397", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "HAUS augmin like complex subunit 7 [Source:HGNC Symbol,Acc:HGNC:32979]", "omim_id": "300540", "functional_summary": "HAUS7 has localized in basal body.", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["HAUS1", "HAUS2", "HAUS3", "HAUS4", "HAUS5", "HAUS6", "HAUS7", "HAUS8"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000213397", "synonym": "UCHL5IP, UIP1", "ortholog_mouse": "Haus7", "ortholog_xenopus": "haus7", "ortholog_zebrafish": "haus7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.77, "sd_percent_ciliated": 7.77, "z_score": 7.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2513, "sd_percent_ciliated": -0.2513, "z_score": -0.2513, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HAVCR1", "ensembl_id": "ENSG00000113249", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hepatitis A virus cellular receptor 1 [Source:HGNC Symbol,Acc:HGNC:17866]", "omim_id": "606518", "functional_summary": "Also known as KIM1. Biomarker of proximal tubular injury. Depletion does not disturb cilia formation (20375059). Modulates cilary calcium sig ling and plays a role in ciliary flow sensing (18273441: 17205356).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17604723, 24026243, 24200693 ,17205356", "complex_components": {}, "pfam_ids": "PF07686", "domain_descriptions": ["Immunoglobulin/major histocompatibility complex", "conserved site", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin V-set domain", "Immunoglobulin-like fold", "Immunoglobulin-like domain superfamily", "T-cell immunoglobulin and mucin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000113249", "synonym": "CD365, HAVCR, HAVCR-1, KIM1, TIM-1, TIM1, TIMD1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Havcr1, Timd2, Timd5, Timd6", "ortholog_xenopus": "LOC100488536, LOC101732468, timd4", "ortholog_zebrafish": "havcr1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.7576, "sd_percent_ciliated": 3.646, "z_score": 0.2118 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.939, "sd_percent_ciliated": 0.939, "z_score": 0.939 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.4378, "sd_percent_ciliated": -4.4378, "z_score": -4.4378 } ] }, { "gene": "HDAC2", "ensembl_id": "ENSG00000196591", "overexpression_effects": "Not Reported", "lof_effects": "Restores ciliogenesis", "percent_ciliated_cells_effects": "Increased", "description": "histone deacetylase 2 [Source:HGNC Symbol,Acc:HGNC:4853]", "omim_id": "605164", "functional_summary": "HDAC2 contributes to suppression of primary cilia formation by controlling Aurora A levels in a Kras‐independent manner in PDAC cells( 28028031). Inhibition or silencing of histone deacetylase 2 (HDAC2) restores primary cilia formation in PDAC cells. (28028031) Ectopic activation of AurkA and HDAC2 accounts for reduced cilia in KC ADM cells. (32571902)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "28028031, 32571902", "complex_components": ["CHD4", "HDAC1", "HDAC2", "MBD3", "MTA2", "RBBP4", "RBBP7", "MBD2", "GATAD2B", "BAZ1A", "CHD3", "MTA1", "RAD21", "SMARCA5", "SMC1A", "SMC3", "STAG1", "STAG2", "SAP18", "SAP30", "SIN3A", "ARID4B", "SAP130", "SUDS3", "KDM1A", "HMG20B", "PHF21A", "RCOR1", "ZNF217", "GSE1", "GTF2I", "ZMYM2", "ZMYM3", "CBX4", "CDYL", "CTBP1", "CTBP2", "EHMT1", "EHMT2", "LCOR", "RCOR3", "RREB1", "ZEB1", "ZEB2", "ZNF516", "GATAD2A", "SAP25", "BRMS1", "SIN3B", "ACTL6A", "ARID1A", "PRMT5", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCD2", "SMARCD3", "SMARCE1", "SMARCA2", "ING1", "NCOR2", "MECP2", "ACTB", "DPF2", "HNRNPC", "BRCA2", "ATR", "CPSF2", "EFTUD2", "KMT2A", "RAN", "RBBP5", "SYMPK", "TAF1", "TAF12", "TAF6", "TAF9", "TBP", "WDR5", "HDAC3", "NCOR1", "CCNH", "CDK7", "ESR1", "MNAT1", "ASH2L", "HCFC1", "HSP90AA1", "HSPA4", "HSPA5", "HSPA8", "OGT", "SETD1A", "SP1", "BRCA1", "ARID4A", "BRMS1L", "ING2", "MXD1", "HESX1", "AJUBA", "GFI1", "DNTTIP1", "MIDEAS", "ZNF541", "TBX20", "TWIST1", "MIER1", "MIER2", "REST", "SETDB1", "WIZ", "MTA3", "SIX3", "CDK2AP1", "ZMYND8", "ZNF598", "E2F1", "PA2G4", "RB1", "CBX3", "E2F6", "L3MBTL2", "MAX", "MGA", "PCGF6", "RING1", "RNF2", "RYBP", "TFDP1", "YAF2", "MYCN", "HDAC10"], "pfam_ids": "PF00850", "domain_descriptions": ["Histone deacetylase family", "Histone deacetylase", "Ureohydrolase domain superfamily", "Histone deacetylase domain", "Histone deacetylase domain superfamily", "Histone deacetylase and polyamine deacetylase"], "string_link": "https://string-db.org/network/9606/ENSG00000196591", "synonym": "KDAC2, RPD3, YAF1", "ortholog_mouse": "Hdac2", "ortholog_c_elegans": "hda-1, hda-3", "ortholog_xenopus": "hdac2", "ortholog_drosophila": "HDAC1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.9746, "sd_percent_ciliated": 0.4069, "z_score": 0.7227, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.354, "sd_percent_ciliated": 0.354, "z_score": 0.354, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0109, "sd_percent_ciliated": -3.0109, "z_score": -3.0109, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HDAC3", "ensembl_id": "ENSG00000171720", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "histone deacetylase 3 [Source:HGNC Symbol;Acc:HGNC:4854]", "omim_id": "605166", "functional_summary": "HDAC3 and HDAC8 are required for the assembly and elongation of the primary cilia(31362948).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3.1362948E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000171720", "synonym": "HD3; KDAC3; RPD3; RPD3-2", "ortholog_mouse": "Hdac3", "ortholog_c_elegans": "hda-2", "ortholog_xenopus": "hdac3", "ortholog_zebrafish": "hdac3", "ortholog_drosophila": "HDAC3", "screens": [] }, { "gene": "HDAC6", "ensembl_id": "ENSG00000094631", "overexpression_effects": "Shorter cilia", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "histone deacetylase 6 [Source:HGNC Symbol,Acc:HGNC:14064]", "omim_id": "300272", "functional_summary": "Regulation of ciliary resorption in response to extracelullar stress and it is also a downstream AurA effector. Destabilises the microtubular axoneme through deacetylation of tubulin, which promotes ciliary disassembly (17604723, 24026243). Mediates an autophagy- dependent mechanism called ciliophagy (24200693) Overexpression on Cilia Length: Decreases cilia length. The study shows that increased levels of HDAC6 lead directly to the shortening and disassembly of connecting cilia.LoF on Cilia Length: Prevents stress-induced cilia shortening. In HDAC6 knockout mice, cilia length is maintained even under the oxygen-induced stress that causes disassembly in normal mice. Percentage of Ciliated Cells: Overexpression decreases the density (percentage) of ciliated cells, while a loss-of-function maintains the normal density.", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation, Cilia length regulation", "reference": "2.437864E7", "complex_components": ["CTNNB1", "EP300", "HDAC6", "SUMO1", "TCF4", "AURKA", "EXPH5", "TM4SF5", "HDAC11", "RAD23B", "MSH2", "GRK2", "MYH10", "ACTG1", "DDX3X", "PHGDH", "RPL36A", "RPS6", "TRIM21"], "pfam_ids": ["PF00850", "PF02148"], "domain_descriptions": ["Histone deacetylase family", "Zinc finger", "UBP-type", "Zinc finger", "RING/FYVE/PHD-type", "Ureohydrolase domain superfamily", "Histone deacetylase domain", "Histone deacetylase domain superfamily", "Histone deacetylase and polyamine deacetylase"], "string_link": "https://string-db.org/network/9606/ENSG00000094631", "synonym": "FLJ16239, HD6, JM21, KDAC6, KIAA0901, PPP1R90", "ortholog_mouse": "Hdac6", "ortholog_c_elegans": "hda-6", "ortholog_xenopus": "hdac6", "ortholog_zebrafish": "hdac6", "ortholog_drosophila": "HDAC6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.5867, "sd_percent_ciliated": 2.3221, "z_score": 0.3123, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.34, "sd_percent_ciliated": 5.34, "z_score": 5.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0064, "sd_percent_ciliated": -0.0064, "z_score": -0.0064, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HDAC8", "ensembl_id": "ENSG00000147099", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Reduced", "description": "histone deacetylase 8 [Source:HGNC Symbol,Acc:HGNC:13315]", "omim_id": "300269", "functional_summary": "Mutations in the HDAC8 gene cause Cornelia de Lange Syndrome (PMID: 22885700). The number of cells with cilia was significantly reduced in HDAC3- and HDAC8-depleted cells. The ciliary length also decreased in HDAC3- and HDAC8-depleted cells compared to control cells. A knockdown-rescue experiment showed that wild-type HDAC3 and HDAC8 rescued the cilia assembly and ciliary length in HDAC3- and HDAC8-depleted cells, respectively; deacetylase-dead HDAC3 and HDAC8 mutants did not. (31362948)", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "22885700, 31362948 ,22885700", "complex_components": ["CREB1", "HDAC8", "PPP1CA", "ACTA2", "CFL1", "HSPB6", "SMG5", "STIP1", "HSPA1A", "HSP90AA1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000147099", "synonym": "HDACL1, KDAC8, MRXS6, RPD3, WTS", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hdac8", "ortholog_xenopus": "hdac8", "ortholog_zebrafish": "hdac8", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 59.1377, "sd_percent_ciliated": 19.4589, "z_score": 2.5598 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 20.9, "sd_percent_ciliated": 20.9, "z_score": 20.9 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6833, "sd_percent_ciliated": -5.6833, "z_score": -5.6833 } ] }, { "gene": "HGSNAT", "ensembl_id": "ENSG00000165102", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "heparan-alpha-glucosaminide N-acetyltransferase [Source:HGNC Symbol,Acc:HGNC:26527]", "omim_id": "610453", "functional_summary": "Mutations in the HGSNAT gene cause Retinitis Pigmentosa (PMID: 25859010).", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "2.585901E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000165102", "synonym": "FLJ32731, HGNAT, TMEM76", "ortholog_mouse": "Hgsnat", "ortholog_xenopus": "hgsnat", "ortholog_zebrafish": "hgsnat, si:dkey-192p21.6", "ortholog_drosophila": "Hgsnat", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.16, "sd_percent_ciliated": 2.16, "z_score": 2.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.9752, "sd_percent_ciliated": 2.9752, "z_score": 2.9752, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HIF1A", "ensembl_id": "ENSG00000100644", "overexpression_effects": "Not Reported", "lof_effects": "Prevents cilia loss", "percent_ciliated_cells_effects": "Not Reported", "description": "hypoxia inducible factor 1 subunit alpha [Source:HGNC Symbol,Acc:HGNC:4910]", "omim_id": "603348", "functional_summary": "Maintains the chondrocytes healthy under hypoxia ( 31357086). Stabilised by USP8 through deubiquiti tion, which is essential for its ciliogenesis- promoting function ( 24378640). Gene silencing of HIF-1α prevented cilia loss under hypoxia, suggesting hypoxia impacts ciliogenesis via a HIF-1α / Wnt signaling axis. (22084569) One possible explanation for the reduced ciliogenesis or increased ciliary disassembly is the functional relationship between HIF and pVHL. (39714449) USP8 deubiquitination of HIF1α is essential to maintain ciliogenesis. (24378640)", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "22706971, 15029248, 22084569, 39714449, 24378640 ,24378640", "complex_components": ["APEX1", "CITED1", "HIF1A", "STAT3", "PSMC3", "VHL", "EGLN1", "OS9", "EGLN3", "ARNT", "ELOB", "ELOC", "BMAL1", "PLD1", "LIMD1", "RHOBTB3", "AKAP6"], "pfam_ids": ["PF08447", "PF11413", "PF00989", "PF23171", "PF08778"], "domain_descriptions": ["PAS domain", "Hypoxia-inducible factor-1 alpha", "PAC motif", "Myc-type", "basic helix-loop-helix (bHLH) domain", "PAS fold-3", "PAS fold", "HIF-1 alpha", "C-terminal transactivation domain", "Hypoxia-inducible factor", "alpha subunit-like", "PAS domain superfamily", "Helix-loop-helix DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100644", "synonym": "BHLHE78, HIF-1ALPHA, HIF1, MOP1, PASD8", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hif1a", "ortholog_c_elegans": "hif-1", "ortholog_xenopus": "hif1a", "ortholog_zebrafish": "hif1aa, hif1ab", "ortholog_drosophila": "sima", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5588, "sd_percent_ciliated": 4.6794, "z_score": -0.418, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.07, "sd_percent_ciliated": 4.07, "z_score": 4.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3895, "sd_percent_ciliated": -4.3895, "z_score": -4.3895, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HIF1AN", "ensembl_id": "ENSG00000166135", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hypoxia inducible factor 1 subunit alpha inhibitor [Source:HGNC Symbol,Acc:HGNC:17113]", "omim_id": "606615", "functional_summary": "HIF1AN is not localized to cilia, but it is functio lly related to ciliary processes through interactions with proteins like ANKS3 and NPHPs ( 25671767).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.5671767E7", "complex_components": {}, "pfam_ids": "PF13621", "domain_descriptions": ["JmjC domain", "RmlC-like jelly roll fold", "Cupin-like domain 8", "Hypoxia-inducible factor 1-alpha inhibitor", "domain II"], "string_link": "https://string-db.org/network/9606/ENSG00000166135", "synonym": "DKFZP762F1811, FIH1, FLJ20615, FLJ22027", "ortholog_mouse": "Hif1an", "ortholog_xenopus": "hif1an", "ortholog_zebrafish": "hif1an", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.633, "sd_percent_ciliated": 0.2921, "z_score": 0.1967 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.5, "sd_percent_ciliated": 4.5, "z_score": 4.5 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6675, "sd_percent_ciliated": -1.6675, "z_score": -1.6675 } ] }, { "gene": "HINT1", "ensembl_id": "ENSG00000169567", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "histidine triad nucleotide binding protein 1 [Source:HGNC Symbol,Acc:HGNC:4912]", "omim_id": "601314", "functional_summary": "PKCI particularly have role in the regulation of ciliary beat frequency (CBF)( 11066030).", "localization": "Ciliary associated gene, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "1.106603E7", "complex_components": ["HINT1", "KAT5", "CDC34", "RBX1", "SP1"], "pfam_ids": "PF01230", "domain_descriptions": ["Histidine triad (HIT) protein", "HIT-like domain", "HIT-like superfamily", "Histidine triad", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000169567", "synonym": "HINT, PKCI-1, PRKCNH1", "ortholog_mouse": "Hint1", "ortholog_c_elegans": "hint-1", "ortholog_xenopus": "hint1", "ortholog_zebrafish": "hint1", "ortholog_drosophila": "HINT1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2859, "z_score": 0.5617, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 53.5626, "z_score": 1.8844, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.1513 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.58, "z_score": 1.58, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.58 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.0587, "z_score": -7.0587, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -7.0587 } ] }, { "gene": "HIP1", "ensembl_id": "ENSG00000127946", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "huntingtin interacting protein 1 [Source:HGNC Symbol,Acc:HGNC:4913]", "omim_id": "601767", "functional_summary": "HIP1 localized to flagella (25613900)", "localization": "flagella, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": ["AR", "HIP1"], "pfam_ids": ["PF16515", "PF01608", "PF07651"], "domain_descriptions": ["I/LWEQ domain", "ENTH/VHS", "AP180 N-terminal homology (ANTH) domain", "ENTH domain", "Sla2 family", "Huntingtin-interacting protein 1", "clathrin-binding domain", "I/LWEQ domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000127946", "synonym": "ILWEQ", "ortholog_mouse": "Hip1", "ortholog_c_elegans": "hipr-1", "ortholog_xenopus": "hip1", "ortholog_zebrafish": "hip1", "ortholog_drosophila": "Hip1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.1565, "sd_percent_ciliated": 1.0919, "z_score": -0.5879, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.05, "sd_percent_ciliated": 2.05, "z_score": 2.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.672, "sd_percent_ciliated": -1.672, "z_score": -1.672, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HIPK1", "ensembl_id": "ENSG00000163349", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "homeodomain interacting protein kinase 1 [Source:HGNC Symbol,Acc:HGNC:19006]", "omim_id": "608003", "functional_summary": "HIPK1 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DAB2IP", "HIPK1", "MAP3K5"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Serine/threonine and dual-specificity kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000163349", "synonym": "KIAA0630, MGC26642, MGC33446, MGC33548, MYAK, NBAK2", "ortholog_mouse": "Hipk1", "ortholog_c_elegans": "hpk-1", "ortholog_xenopus": "hipk1", "ortholog_zebrafish": "hipk1a, hipk1b", "ortholog_drosophila": "Hipk", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.2838, "sd_percent_ciliated": 3.1172, "z_score": -0.2091, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.47, "sd_percent_ciliated": 1.47, "z_score": 1.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1724, "sd_percent_ciliated": -3.1724, "z_score": -3.1724, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HK1", "ensembl_id": "ENSG00000156515", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hexokinase 1 [Source:HGNC Symbol,Acc:HGNC:4922]", "omim_id": "142600", "functional_summary": "Mutations in the HK1 gene cause Retinitis Pigmentosa (PMID: 25316723).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "2.5316723E7", "complex_components": ["HK1", "VDAC1", "ATF2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156515", "ortholog_mouse": "Hk1", "ortholog_c_elegans": "hxk-2, hxk-3", "ortholog_xenopus": "hk1", "ortholog_zebrafish": "hk1", "ortholog_drosophila": "Hex-A, Hex-C, Hex-T", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.5155, "sd_percent_ciliated": 4.3739, "z_score": 1.5152 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.84, "sd_percent_ciliated": 2.84, "z_score": 2.84 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.482, "sd_percent_ciliated": -3.482, "z_score": -3.482 } ] }, { "gene": "HMGB1", "ensembl_id": "ENSG00000189403", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "high mobility group box 1 [Source:HGNC Symbol,Acc:HGNC:4983]", "omim_id": "163905", "functional_summary": "HMGB1 affected cilia formation in 2.5D culture. EW-7197, AG-1478 and the TNFα antibody prevented the increase in cell metabolism induced by HMGB1 and inflammatory cytokines in 2D culture ( 33182652). Frequency and length of neuronal primary cilia were quantitatively analyzed … we observed a decrease and shortening of neuronal primary cilia in APP mutant iPSC neurons treated with HMGB1. (34635772) The disruption of the epithelial barrier including cilia formation induced by HMGB1 contributed to TGF-β signaling in Caco-2 cells. (34538217)", "localization": "Ciliary associated gene, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "33182652, 34635772, 34538217", "complex_components": ["GAPDH", "HMGB1", "HMGB2", "HSPA8", "PDIA3", "TBP", "CSNK2A1", "CSNK2A2", "CSNK2B"], "pfam_ids": ["PF00505", "PF09011"], "domain_descriptions": ["High mobility group box domain", "HMG box A DNA-binding domain", "conserved site", "High mobility group box domain superfamily", "High Mobility Group Box (HMGB)"], "string_link": "https://string-db.org/network/9606/ENSG00000189403", "synonym": "DKFZP686A04236, HMG1, HMG3, SBP-1", "ortholog_mouse": "Hmgb1", "ortholog_c_elegans": "hmg-1.2", "ortholog_xenopus": "hmgb1", "ortholog_zebrafish": "hmgb1a, hmgb1b", "ortholog_drosophila": "Dsp1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.8763, "sd_percent_ciliated": 2.4293, "z_score": 0.105 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.516, "sd_percent_ciliated": 0.516, "z_score": 0.516 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2116, "sd_percent_ciliated": -0.2116, "z_score": -0.2116 } ] }, { "gene": "HNF1B", "ensembl_id": "ENSG00000275410", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "HNF1 homeobox B [Source:HGNC Symbol,Acc:HGNC:11630]", "omim_id": "189907", "functional_summary": "HNF1B deficiency is associated with ciliary anomalies in cholangiocytes and causes re l cysts. Regulates bile duct formation ( 22706971). Control of the transcription of several genes expressed in tubular epithelial cells and transcriptio l activation of Tg737/Polaris. HNF1尾 is not directly necessary for ciliogenesis, nevertheless, it may regulate the expression of genes that play a crucial role in cilium function ( 15029248). Electron microscopy revealed a paucity or absence of normal primary cilia in bile duct (cholangiocyte) epithelial cells of patients with heterozygous HNF1B deficiency. (22706971) This suggests that the early defects of cell polarity observed in Hnf1b mutants affect cilia maintenance (29158444) In this Review … ultrastructural analysis of 3 adults with late-onset cholestasis, demonstrating a significant loss of primary cilia in cholangiocytes. (36672242)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "30340023, 35076921, 15029248, 22706971, 29158444, 36672242 ,35076921; 22706971", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000275410", "synonym": "HNF1B, HNF1BETA, LFB3, MODY5, TCF2, VHNF1", "ciliopathy": "Infantile Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hnf1b", "ortholog_xenopus": "hnf1b", "ortholog_zebrafish": "hnf1ba, hnf1bb", "screens": {} }, { "gene": "HOOK2", "ensembl_id": "ENSG00000095066", "overexpression_effects": "Not Reported", "lof_effects": "Ciliogenesis blocked", "percent_ciliated_cells_effects": "Severe reduction/essentially none", "description": "hook microtubule tethering protein 2 [Source:HGNC Symbol,Acc:HGNC:19885]", "omim_id": "607824", "functional_summary": "Hook2 localized to the centrosome through all phases of the cell cycle, its C-term domain directly binds to centriolin/CEP110, and it was demonstrated to contribute to the establishment and mainte nce of centrosomal structure and function (17140400). Hook2 depletion prevents ciliogenesis initiation, and this defect can be overcome by overexpression of murine Hook2 or Rab8a. Hook2 interacts with and regulates the expression of PCM1 that controls Rab8a recruitment to the primary cilium. The existence of a functio l complex containing Rab8a and Hook2 in association with PCM1, where Hook2 could play a role as an adaptor in the attachment of post-Golgi vesicles to the mother centriole during the formation of the ciliary sheath(21998199). Hook2 is involved in the morphogenesis of the primary cilium … Hook2 depletion disrupts ciliogenesis at a stage before the formation of the ciliary vesicle at the distal tip of the mother centriole. (21998199) Hook2 interacts with PCM1 in a complex that also contains Rab8a and regulates a limiting step required for further initiation of ciliogenesis after centriole maturation. (21998199) Hook2 binds aPKC-binding domain of PAR6α … depletion of Hook2 in ARPE-19 cells leads to loss of peri-centriolar material and blocks ciliogenesis. (27624926)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "17140400 , 21998199, 27624926", "complex_components": ["AKTIP", "FHIP1B", "HOOK1", "HOOK2", "HOOK3", "VPS16", "VPS41", "PCM1", "RAB8A", "PARD3", "PARD6A", "PRKCI", "KLC3", "LRGUK", "RIMBP3"], "pfam_ids": ["PF19047", "PF05622"], "domain_descriptions": ["Calponin homology domain", "Hook", "C-terminal", "CH domain superfamily", "HOOK", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000095066", "synonym": "HK2", "ortholog_mouse": "Hk2, Hook2", "ortholog_c_elegans": "hxk-1, hxk-2, hxk-3, zyg-12", "ortholog_xenopus": "hkdc1, hook2", "ortholog_zebrafish": "hk2, hook2", "ortholog_drosophila": "Hex-A, Hex-C, Hex-T, Hexl, hook", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.3461, "sd_percent_ciliated": 4.7952, "z_score": -1.2919, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.148, "sd_percent_ciliated": 0.148, "z_score": 0.148, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9804, "sd_percent_ciliated": -0.9804, "z_score": -0.9804, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HOXB5", "ensembl_id": "ENSG00000120075", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "homeobox B5 [Source:HGNC Symbol,Acc:HGNC:5116]", "omim_id": "142960", "functional_summary": "The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin sig lling in the developing cerebellum via Hoxb5 ( 30931988).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0931988E7", "complex_components": {}, "pfam_ids": "PF00046", "domain_descriptions": ["Homeodomain", "Homeobox protein", "antennapedia type", "conserved site", "Homedomain-like superfamily", "Homeobox", "conserved site", "Homeobox protein", "antennapedia type", "Homeodomain", "metazoa", "Antennapedia-type homeobox"], "string_link": "https://string-db.org/network/9606/ENSG00000120075", "synonym": "HOX2, HOX2A", "ortholog_mouse": "Hoxb5", "ortholog_xenopus": "hoxb5", "ortholog_zebrafish": "hoxb5a, hoxb5b", "ortholog_drosophila": "Scr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4611, "sd_percent_ciliated": 0.7505, "z_score": -0.9145 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.366, "sd_percent_ciliated": 0.366, "z_score": 0.366 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.6613, "sd_percent_ciliated": -2.6613, "z_score": -2.6613 } ] }, { "gene": "HPRT1", "ensembl_id": "ENSG00000165704", "overexpression_effects": "Not Reported", "lof_effects": "No significant change", "percent_ciliated_cells_effects": "No significant change", "description": "hypoxanthine phosphoribosyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:5157]", "omim_id": "308000", "functional_summary": "HPRT1 localized to flagella (25613900) We found no evidence of significant difference in either cilia length or the proportion of ciliated cells at any developmental time point assessed", "localization": "flagella, Cytosol", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cilia length regulation", "reference": "25613900, https://www.researchgate.net/figure/HPRT1-knockout-leads-to-decreased-mTORC1-activity-in-midbrain-NPCs-but-not-in-cortical_fig4_352913100", "complex_components": {}, "pfam_ids": "PF00156", "domain_descriptions": ["Phosphoribosyltransferase domain", "Hypoxanthine phosphoribosyl transferase", "Phosphoribosyltransferase-like", "Hypoxanthine-guanine phosphoribosyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000165704", "synonym": "HGPRT, HPRT", "ortholog_mouse": "Hprt1", "ortholog_c_elegans": "hprt-1", "ortholog_xenopus": "hprt1", "ortholog_zebrafish": "hprt1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.037, "sd_percent_ciliated": 3.6912, "z_score": 0.2457 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.04, "sd_percent_ciliated": 6.04, "z_score": 6.04 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.7817, "sd_percent_ciliated": -0.7817, "z_score": -0.7817 } ] }, { "gene": "HRAS", "ensembl_id": "ENSG00000174775", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "HRas proto-oncogene, GTPase [Source:HGNC Symbol,Acc:HGNC:5173]", "omim_id": "190020", "functional_summary": "HRAS has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ABL2", "HRAS", "RIN1", "RAF1", "DGKZ", "RASGRP1", "AURKA", "IRAK1", "IRAK2", "TRAF6", "PPP1CC", "SHOC2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000174775", "synonym": "HRAS1", "ortholog_mouse": "Hras", "ortholog_c_elegans": "let-60", "ortholog_xenopus": "hras", "ortholog_zebrafish": "hrasa, hrasb", "ortholog_drosophila": "Ras85D", "screens": {} }, { "gene": "HSD11B1", "ensembl_id": "ENSG00000117594", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hydroxysteroid 11-beta dehydrogenase 1 [Source:HGNC Symbol,Acc:HGNC:5208]", "omim_id": "600713", "functional_summary": "oxysterol synthase HSD11尾2 participates in the production of Smoothened-activating cilia-localised oxysterols and promotes Hedgehog pathway activity.", "localization": "transition zone, basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "30881373, 25359884", "complex_components": "HSD11B1", "pfam_ids": "PF00106", "domain_descriptions": ["Short-chain dehydrogenase/reductase SDR", "NAD(P)-binding domain superfamily", "11-beta-hydroxysteroid dehydrogenase", "Short-chain dehydrogenase/reductase", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000117594", "synonym": "HSD11, HSD11B, SDR26C1", "ortholog_mouse": "Hsd11b1", "ortholog_xenopus": "hsd11b1", "ortholog_zebrafish": "hsd11b1la", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.2609, "sd_percent_ciliated": 11.9334, "z_score": -0.4541 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.113, "sd_percent_ciliated": 0.113, "z_score": 0.113 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.9801, "sd_percent_ciliated": -1.9801, "z_score": -1.9801 } ] }, { "gene": "HSD17B4", "ensembl_id": "ENSG00000133835", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Reduced", "description": "hydroxysteroid 17-beta dehydrogenase 4 [Source:HGNC Symbol,Acc:HGNC:5213]", "omim_id": "601860", "functional_summary": "HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA (40102401). HSD17B4-deficient fibroblasts exhibited a reduced number of ciliated cells and shortened ciliary length compared to control fibroblasts. In HSD17B4-knockdown RPE cells and HSD17B4-knockout SH-SY5Y cells … the number of ciliated cells and the ciliary length of the cells were quantified … ciliated cell % and cilium length were lower in KO / knockdown vs. controls (p < 0.001) Elevation of acetyl-CoA rescues ciliary defects via HDAC6-mediated ciliogenesis in HSD17B4-deficient cells.(40102401)", "localization": "Ciliary associated gene, Microbody, Peroxisome, Mitochondria", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "4.0102401E7", "complex_components": {}, "pfam_ids": ["PF02036", "PF22622", "PF00106", "PF01575"], "domain_descriptions": ["Short-chain dehydrogenase/reductase SDR", "MaoC-like dehydratase domain", "SCP2 sterol-binding domain", "Short-chain dehydrogenase/reductase", "conserved site", "HotDog domain superfamily", "NAD(P)-binding domain superfamily", "SCP2 sterol-binding domain superfamily", "Peroxisomal Beta-Oxidation Enzymes", "Peroxisomal multifunctional enzyme type 2-like", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000133835", "synonym": "DBP, MFE-2, SDR8C1", "ortholog_mouse": "Dbp, Hsd17b4", "ortholog_c_elegans": "atf-8, ces-2, dhs-28, maoc-1", "ortholog_xenopus": "dbp, hsd17b4", "ortholog_zebrafish": "dbpa, dbpb, hsd17b4", "ortholog_drosophila": "CG7786, Mfe2, Pdp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.1711, "sd_percent_ciliated": 4.5515, "z_score": 0.6254, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.06, "sd_percent_ciliated": 1.06, "z_score": 1.06, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4061, "sd_percent_ciliated": -3.4061, "z_score": -3.4061, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HSD3B1", "ensembl_id": "ENSG00000203857", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [Source:HGNC Symbol,Acc:HGNC:5217]", "omim_id": "109715", "functional_summary": "An enzyme that is part of sterol synthesis, HSD3B1/HSD3B2 also found in several enzymes in cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF01073", "domain_descriptions": ["3-beta hydroxysteroid dehydrogenase/isomerase", "NAD(P)-binding domain superfamily", "Bifunctional lipid A modification and metabolic enzymes"], "string_link": "https://string-db.org/network/9606/ENSG00000203857", "synonym": "HSD3B, HSDB3, SDR11E1", "ortholog_mouse": "Hsd3b1, Hsd3b2, Hsd3b3, Hsd3b4, Hsd3b5, Hsd3b6, Hsd3b8, Hsd3b9", "ortholog_c_elegans": "C32D5.12", "ortholog_zebrafish": "hsd3b1, hsd3b2", "ortholog_drosophila": "CG7724", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.8547, "sd_percent_ciliated": 3.4893, "z_score": -0.1399 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.26, "sd_percent_ciliated": 6.26, "z_score": 6.26 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.825, "sd_percent_ciliated": 0.825, "z_score": 0.825 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.01, "sd_percent_ciliated": 1.01, "z_score": 1.01 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.716, "sd_percent_ciliated": 0.716, "z_score": 0.716 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.282, "sd_percent_ciliated": 0.282, "z_score": 0.282 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0785, "sd_percent_ciliated": -3.0785, "z_score": -3.0785 } ] }, { "gene": "HSD3B2", "ensembl_id": "ENSG00000203859", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Source:HGNC Symbol,Acc:HGNC:5218]", "omim_id": "613890", "functional_summary": "An enzyme that is part of sterol synthesis, HSD3B1/HSD3B2 also found in several enzymes in cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["HSD3B2", "TIMM23", "TIMM50", "TOMM22"], "pfam_ids": "PF01073", "domain_descriptions": ["3-beta hydroxysteroid dehydrogenase/isomerase", "NAD(P)-binding domain superfamily", "Bifunctional lipid A modification and metabolic enzymes"], "string_link": "https://string-db.org/network/9606/ENSG00000203859", "synonym": "SDR11E2", "ortholog_mouse": "Hsd3b1, Hsd3b2, Hsd3b3, Hsd3b4, Hsd3b5, Hsd3b6, Hsd3b8, Hsd3b9", "ortholog_zebrafish": "hsd3b2", "ortholog_drosophila": "CG7724", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.7322, "z_score": 0.7011, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.2865, "z_score": 2.2144, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.2743 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1264, "z_score": 0.1264, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.1264 } ] }, { "gene": "HSP90AA1", "ensembl_id": "ENSG00000080824", "overexpression_effects": "Not Reported", "lof_effects": "Cilia resorption", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein 90 alpha family class A member 1 [Source:HGNC Symbol,Acc:HGNC:5253]", "omim_id": "140571", "functional_summary": "Effector protein in the FOXJ1 regulatory network (30881373). Hsp90伪 shows chaperone activity that might facilitate protein assembly and disassembly during ciliogenesis. Phosphorylated Hsp90伪 is likely to be a component of the distal appendages in the mother centriole (25359884). Hsp90α forms a stable complex at the cilium neck … phosphorylated Hsp90α forms a stable ring around the axoneme … Heat shock treatment causes Hsp90α to dissipate and induces resorption of cilia. (25359884) In unstressed cells, Hsp90 localizes to the ciliary axoneme and its inhibition resulted in cilia loss. (22718348) HSP90 differentially regulates cilia length, subject to oxygen tension. (25171775) In retinal photoreceptors, “No significant change was observed in cilia length between Hsp90α⁻/⁻ and Hsp90α⁺/⁺ animals.” — suggests that in that context, Hsp90α loss did not alter cilia length. (37172722)", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Reproduction & sperm, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation, Cilia length regulation", "reference": "19302411, 25359884, 22718348, 25171775, 37172722 ,30881373", "complex_components": ["CDC37", "HSP90AA1", "HSP90AB1", "MAP3K11", "ASH2L", "HCFC1", "HDAC1", "HDAC2", "HSPA4", "HSPA5", "HSPA8", "OGT", "RBBP4", "RBBP7", "SAP30", "SETD1A", "SIN3A", "SIN3B", "SP1", "SUDS3", "WDR5", "CALM1", "FKBP8", "MAP2K5", "MAP3K3", "MARK2", "PDRG1", "PFDN2", "TRAF7", "YWHAB", "YWHAE", "YWHAG", "YWHAH", "YWHAQ", "YWHAZ", "AZI2", "TANK", "TBK1", "TBKBP1", "TRAF2", "CCAR2", "IKBKB", "CHUK", "FBL", "IKBKG", "MAP3K14", "RPL30", "RPL4", "RPL6", "RPL8", "RPS11", "RPS13", "FKBP5", "MAP3K7", "TAB1", "TAB2", "TAB3", "IKBKE", "KTN1", "ATG16L1", "CCAR1", "NFKBIB", "TXLNA", "CDKN1A", "FKBPL", "AKT1", "MAP3K5", "", "DNAJC7", "NMNAT2", "ILK", "PTGES3", "GSK3B", "PKM", "AIPL1", "HSPA1A", "PPP5C", "TSC1", "TSC2", "GJA1", "TOMM20", "CSK", "CXCR4", "GDF5", "MAPK1", "MAPK11", "MAPK3", "BAX", "IRF3", "TOMM70", "RIGI", "MAVS", "HDAC8", "SMG5", "GUCY2C"], "pfam_ids": ["PF00183", "PF13589"], "domain_descriptions": ["Heat shock protein Hsp90 family", "Histidine kinase/HSP90-like ATPase domain", "Heat shock protein Hsp90", "conserved site", "Ribosomal protein uS5 domain 2-type superfamily", "Heat shock protein Hsp90", "N-terminal", "Histidine kinase/HSP90-like ATPase superfamily", "HSP90", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000080824", "synonym": "FLJ31884, HSP89, HSP90, HSP90N, HSPC1, HSPCA, HSPCAL4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hsp90aa1", "ortholog_c_elegans": "hsp-90", "ortholog_xenopus": "hsp90aa1", "ortholog_zebrafish": "hsp90aa1.1, hsp90aa1.2", "ortholog_drosophila": "Hsp83", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.62, "sd_percent_ciliated": 3.62, "z_score": 3.62, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9388, "sd_percent_ciliated": -2.9388, "z_score": -2.9388, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HSPA1A", "ensembl_id": "ENSG00000234475", "overexpression_effects": "Not Reported", "lof_effects": "Inhibition restores cilium length", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family A (Hsp70) member 1A [Source:HGNC Symbol,Acc:HGNC:5232]", "omim_id": "140550", "functional_summary": "YFP-tagged HSPA6 and HSPA1A were detected in prominent structures resembling centrioles in the cytoplasm of post-mitotic, differentiating human neurons (24061851). Following a brief period of thermal stress, YFP-tagged HSPA6 and HSPA1A rapidly appeared at centrioles in the cytoplasm of human neuronal cells. (24061851) The HSPA1A inhibitor pifithrin-µ restores cilium length in WDR4 patient cells. (39251572)", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "24061851, 39251572", "complex_components": ["BMI1", "CBX2", "CBX4", "CBX8", "HSPA1A", "PHC1", "PHC2", "PHC3", "RING1", "RNF2", "SCMH1", "SMARCA5", "YY1", "NOS1", "STUB1", "CTBP1", "HDAC1", "HMG20A", "HMG20B", "HSPA1B", "KDM1A", "PHF21A", "PHF21B", "RCOR1", "RCOR3", "RREB1", "ZMYM2", "ZNF217", "ACTB", "ACTN4", "HSP90AB1", "HSPA8", "ITGB2", "LAMA3", "MPP3", "P2RX7", "PI4KA", "PTPRB", "SVIL", "BAG5", "HSPA4", "PRKN", "DCTN1", "DCTN2", "LCA5", "NCL", "NPM1", "YWHAE", "BAG1", "CLTC", "HERC1", "AIPL1", "HSP90AA1", "CDC37", "PPP5C", "TSC1", "TSC2", "AR", "HDAC8", "SMG5", "HDAC10", "GBA1", "GRN", "SCARB2", "SLC5A1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000234475", "synonym": "HSP70-1, HSPA1", "ortholog_mouse": "Hspa1a", "ortholog_c_elegans": "hsp-1", "ortholog_xenopus": "hsp70, hspa1b, hspa1l", "ortholog_zebrafish": "hsp70.1, hsp70.3, hsp70l, hspa1b", "ortholog_drosophila": "Hsc70-1", "screens": {} }, { "gene": "HSPA1B", "ensembl_id": "ENSG00000212866", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family A (Hsp70) member 1B [Source:HGNC Symbol,Acc:HGNC:5233]", "omim_id": "603012", "functional_summary": "HSPA1B has localized in basal body,flagella.", "localization": "basal body,flagella, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["CTBP1", "HDAC1", "HMG20A", "HMG20B", "HSPA1A", "HSPA1B", "KDM1A", "PHF21A", "PHF21B", "RCOR1", "RCOR3", "RREB1", "ZMYM2", "ZNF217", "BAX", "DNAJA1", "DNAJA2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000212866", "synonym": "HSP70-2", "ortholog_mouse": "Hspa1b", "ortholog_c_elegans": "hsp-1", "ortholog_xenopus": "hsp70, hspa1b, hspa1l", "ortholog_zebrafish": "hsp70.1, hsp70.3, hsp70l, hspa1b", "ortholog_drosophila": "Hsc70-1", "screens": {} }, { "gene": "HSPA1L", "ensembl_id": "ENSG00000234258", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family A (Hsp70) member 1 like [Source:HGNC Symbol,Acc:HGNC:5234]", "omim_id": "140559", "functional_summary": "HSPA1L has localized in basal body,flagella.", "localization": "basal body,flagella, Cytosol", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["CAMK4", "HSPA1L", "HSPA8", "IQCG"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000234258", "synonym": "HSP70-HOM, HUM70T", "ortholog_mouse": "Hspa1l", "ortholog_c_elegans": "hsp-1", "ortholog_xenopus": "hsp70, hspa1b, hspa1l", "ortholog_zebrafish": "hsp70.1, hsp70.3, hsp70l, hspa1b", "screens": {} }, { "gene": "HSPA2", "ensembl_id": "ENSG00000126803", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family A (Hsp70) member 2 [Source:HGNC Symbol,Acc:HGNC:5235]", "omim_id": "140560", "functional_summary": "HSPA2 localized to flagella (25613900)", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Metabolism, Reproduction & sperm, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": ["ACE", "HSPA2", "PDIA6", "BAG6", "BAG2", "NLRP14"], "pfam_ids": "PF00012", "domain_descriptions": ["Heat shock protein 70 family", "Heat shock protein 70", "conserved site", "Heat shock protein 70kD", "peptide-binding domain superfamily", "Heat shock protein 70kD", "C-terminal domain superfamily", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000126803", "ortholog_mouse": "Hspa2", "ortholog_c_elegans": "hsp-1", "ortholog_xenopus": "hspa2", "ortholog_drosophila": "Hsc70-2, Hsc70-4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.922, "sd_percent_ciliated": 13.3774, "z_score": 0.474 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.48, "sd_percent_ciliated": 1.48, "z_score": 1.48 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -13.0179, "sd_percent_ciliated": -13.0179, "z_score": -13.0179 } ] }, { "gene": "HSPA5", "ensembl_id": "ENSG00000044574", "overexpression_effects": "Not Reported", "lof_effects": "Potential shortening", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family A (Hsp70) member 5 [Source:HGNC Symbol,Acc:HGNC:5238]", "omim_id": "138120", "functional_summary": "HSPA5 localized to flagella (25613900) The most abundant membrane-associated proteins were heat-shock protein family A (Hsp70) member (Hspa5) … (28710093) Hspa5 was significantly downregulated following lithium carbonate exposure, and decreased Cdc42 expression and cytoskeletal abnormalities could disrupt normal cilia development and lead to shortened cilia. (40245563)", "localization": "flagella, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25613900, 28710093, 40245563", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "CALM1", "CALR", "EIF3L", "H2AX", "H2BC26", "H4C1", "HNRNPR", "NPM1", "PABPC1", "SSB", "DHX30", "PARP1", "YBX3", "H2BC14", "H2BC3", "PTCD3", "ABCF2", "CDC5L", "DDX23", "EEF1A1", "EEF1G", "EFTUD2", "HNRNPU", "MATR3", "MSH2", "PFKL", "PRPF8", "SFPQ", "SNRNP200", "SNW1", "TUBB", "UBR5", "ASH2L", "HCFC1", "HDAC1", "HDAC2", "HSP90AA1", "HSPA4", "OGT", "RBBP4", "RBBP7", "SAP30", "SETD1A", "SIN3A", "SIN3B", "SP1", "SUDS3", "WDR5", "DDX17", "DDX5", "DGCR8", "DHX9", "FUS", "HNRNPH1", "ILF3", "NCL", "AUP1", "BSG", "DERL2", "ERLEC1", "ERLIN2", "FAF2", "FAM8A1", "HSP90B1", "OS9", "SEL1L", "SYVN1", "UBE2J1"], "pfam_ids": "PF00012", "domain_descriptions": ["Heat shock protein 70 family", "Heat shock protein 70", "conserved site", "Heat shock protein 70kD", "peptide-binding domain superfamily", "Heat shock protein 70kD", "C-terminal domain superfamily", "Endoplasmic reticulum chaperone BIP", "nucleotide-binding domain", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000044574", "synonym": "BIP, GRP78", "ortholog_mouse": "Hspa5", "ortholog_c_elegans": "hsp-3, hsp-4", "ortholog_xenopus": "hspa5", "ortholog_zebrafish": "hspa5", "ortholog_drosophila": "Hsc70-3", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.7415, "z_score": 0.704, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.7852, "z_score": 2.1537, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.6418 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.37, "z_score": 5.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 5.37 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0881, "z_score": -5.0881, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.0881 } ] }, { "gene": "HSPA8", "ensembl_id": "ENSG00000109971", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family A (Hsp70) member 8 [Source:HGNC Symbol,Acc:HGNC:5241]", "omim_id": "600816", "functional_summary": "Also called HSC70. Function in the formation or stabilization of IFT-cargo complexes working with MRJ. It may bind directly to IFT88 or to one or more additio l TPR containing proteins within the IFT particle, which in turn recruit MRJ bound cargo proteins (19302411).", "localization": "basal body, transition zone, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, Transcription regulation", "reference": "28430876, 28964737, 26023097, 22595669, 30709917 ,19302411", "complex_components": ["GAPDH", "HMGB1", "HMGB2", "HSPA8", "PDIA3", "ACTB", "ACTN4", "HSP90AB1", "HSPA1A", "ITGB2", "LAMA3", "MPP3", "P2RX7", "PI4KA", "PTPRB", "SVIL", "BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "BCOR", "KDM2B", "PCGF1", "RYBP", "SKP1", "BCAS2", "CDC5L", "GCN1", "PLRG1", "PRPF19", "BZW1", "CWC15", "DYNC1H1", "ILF2", "PPM1D", "PPP1CA", "PRKDC", "RBMX", "SCAF8", "SF3B1", "SF3B2", "SF3B4", "SFI1", "SFPQ", "SNRPA", "SNRPA1", "SNRPD1", "SNRPD2", "SNRPD3", "SRRM1", "SRSF1", "SRSF2", "TCF4", "TOP2A", "", "EIF4G1", "HNRNPD", "PABPC1", "DNAJB2", "PSMA3", "ASH2L", "HCFC1", "HDAC1", "HDAC2", "HSP90AA1", "HSPA4", "OGT", "RBBP4", "RBBP7", "SAP30", "SETD1A", "SIN3A", "SIN3B", "SP1", "SUDS3", "WDR5", "MAPT", "STUB1", "UBE2D2", "BAG3", "HSPB8", "BAG1", "DNAJB1", "DNAJC3", "HSPBP1", "CAMK4", "HSPA1L", "IQCG", "CTNNBL1", "PA2G4", "CFAP298", "DNAAF11", "DNAAF4", "IQUB", "RUVBL2", "ZMYND10", "DNAJB12", "DNAJB14", "SGTA", "HSPH1", "AIPL1", "ACIN1", "AGGF1", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDK11A", "CFAP20", "CHERP", "CIRBP", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HTATSF1", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PNN", "PPP1R8", "PQBP1", "PRCC", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B3", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPB", "SNRPB2", "SNRPC", "SNRPE", "SNRPF", "SNRPG", "SRRM2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207", "CSK", "CXCR4", "GDF5", "HDAC10"], "pfam_ids": "PF00012", "domain_descriptions": ["Heat shock protein 70 family", "Heat shock protein 70", "conserved site", "Heat shock protein 70kD", "peptide-binding domain superfamily", "Heat shock protein 70kD", "C-terminal domain superfamily", "ATPase", "nucleotide binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000109971", "synonym": "HSC70, HSC71, HSP73, HSPA10", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hspa8", "ortholog_c_elegans": "hsp-1", "ortholog_xenopus": "hspa8", "ortholog_zebrafish": "hspa8", "ortholog_drosophila": "Hsc70-1, Hsc70-4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.9936, "sd_percent_ciliated": 1.2766, "z_score": 0.2404 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.09, "sd_percent_ciliated": 1.09, "z_score": 1.09 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9274, "sd_percent_ciliated": -5.9274, "z_score": -5.9274 } ] }, { "gene": "HSPD1", "ensembl_id": "ENSG00000144381", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "heat shock protein family D (Hsp60) member 1 [Source:HGNC Symbol,Acc:HGNC:5261]", "omim_id": "118190", "functional_summary": "Tetrahyme hsp60 ( HSPD1 in Human) is localized in basal bodies and is involved in cortical patterning such as the formation of the oral apparatus as well as having a role in the folding of mitochondrial proteins in mitochondria(11260259).", "localization": "basal body, Cytosol, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1260259E7", "complex_components": ["AFG3L2", "ATP5MG", "FXN", "HSPA9", "HSPD1", "LYRM4", "SDHA", "CHERP", "DDX46", "DHX15", "DNAJC8", "HMG20B", "PHF5A", "PUF60", "RBM17", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SMNDC1", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SRSF1", "TRAP1", "U2AF1", "U2AF2", "U2SURP"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin Cpn60/GroEL", "Chaperonin Cpn60/GroEL/TCP-1 family", "Chaperonin Cpn60", "conserved site", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "Chaperone tailless complex polypeptide 1 (TCP-1)"], "string_link": "https://string-db.org/network/9606/ENSG00000144381", "synonym": "GROEL, HSP60, SPG13", "ortholog_mouse": "Hspd1", "ortholog_c_elegans": "hsp-60", "ortholog_xenopus": "hspd1", "ortholog_zebrafish": "hspd1", "ortholog_drosophila": "Hsp60A, Hsp60B, Hsp60C, Hsp60D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.527, "sd_percent_ciliated": 5.8061, "z_score": -0.3007 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 19.4, "sd_percent_ciliated": 19.4, "z_score": 19.4 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.67, "sd_percent_ciliated": -1.67, "z_score": -1.67 } ] }, { "gene": "HTR6", "ensembl_id": "ENSG00000158748", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unkown", "description": "5-hydroxytryptamine receptor 6 [Source:HGNC Symbol,Acc:HGNC:5301]", "omim_id": "601109", "functional_summary": "Also known as 5-HT6. Regulates length, morphology and function of neuro l primary cilia through ARL13B, influences cilia and axon initial segment. Involved in cognition and Alzheimer鈥檚 disease development (28931427). E ble chemosensory functions in ciliated neurons to sense 5- HT in the immediate milieu (10432491). We found that overexpression of ciliary GPCRs in cortical neurons, especially 5HT6, induced the formation of long (>30 μm) and often forked cilia. These changes were associated with increased levels of intraflagellar transport proteins and accelerated ciliogenesis in neonatal neocortex, the induction of which required Kif3a, an anterograde motor critical for cilia protein trafficking and growth. GPCR overexpression also altered the complement of signaling molecules within the cilia. We found that SSTR3 and type III adenylyl cyclase (ACIII), proteins normally enriched in neuronal cilia, were rarely detected in 5HT6-elongated cilia (23392690). To examine the effect of endogenous 5-HT6 receptor activity on neuronal primary cilia morphology, we used primary cultured striatal neurons to facilitate precise control of drug concentration and ready imaging and measurement of individual primary cilia. Treatment of WT cultured striatal neurons with 1 μM of selective 5-HT6 receptor agonist (WAY-208466) for 24 hours had no effect on primary cilia length, but treatment with the 5-HT6-selective receptor antagonist (SB-399885) for 24 hours significantly reduced the length of primary cilia (28087224).Overexpression of 5HT6 and SSTR3 in mouse neocortical neurons induces abnormal growth of their primary cilia. (23392690)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "26160070, 21985783, 23392690, 28087224, 23392690 ,10924708", "complex_components": ["HTR6", "MTOR", "RPTOR", "NF1", "CDK5", "FYN", "COPS5", "MAP1B"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "5-Hydroxytryptamine 6 receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000158748", "synonym": "5-HT6, 5-HT6R", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Htr6", "ortholog_xenopus": "htr6", "ortholog_zebrafish": "htr6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.2809, "sd_percent_ciliated": 6.2094, "z_score": 0.3964 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.6, "sd_percent_ciliated": 1.6, "z_score": 1.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.4431, "sd_percent_ciliated": -5.4431, "z_score": -5.4431 } ] }, { "gene": "HTR7", "ensembl_id": "ENSG00000148680", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "5-hydroxytryptamine receptor 7 [Source:HGNC Symbol,Acc:HGNC:5302]", "omim_id": "182137", "functional_summary": "A chimeric HTR7 containing the N-termi l portion of the i3 loop from HTR6 was successfully targeted to cilia (18256283).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "1.8256283E7", "complex_components": ["GPRASP1", "HTR7", "GPRASP2", "Htr7"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "5-Hydroxytryptamine 7 receptor", "GPCR", "rhodopsin-like", "7TM", "5-hydroxytryptamine receptor family"], "string_link": "https://string-db.org/network/9606/ENSG00000148680", "synonym": "5-HT7", "ortholog_mouse": "Htr7", "ortholog_c_elegans": "ser-7", "ortholog_xenopus": "htr7", "ortholog_zebrafish": "htr7a", "ortholog_drosophila": "5-HT7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.4355, "sd_percent_ciliated": 0.9486, "z_score": -0.0695, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.61, "sd_percent_ciliated": 2.61, "z_score": 2.61, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3273, "sd_percent_ciliated": -4.3273, "z_score": -4.3273, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HTT", "ensembl_id": "ENSG00000197386", "overexpression_effects": "Longer cilia", "lof_effects": "Reduced ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "huntingtin [Source:HGNC Symbol,Acc:HGNC:4851]", "omim_id": "613004", "functional_summary": "Mutated in Huntington's Disease. Scaffolding protein required for vesicular transport via interactions with and motor protein cargo adaptors such as HAP1 and dy ctin. Functio l role in autophagy (26160070). Essential for protein trafficking to the centrosome and normal ciliogenesis. Retrograde trafficking of PCM1 regulated by HTT and HAP1 to control ciliogenesis (21985783). Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway … In the absence of Htt or HAP1 expression, mislocalization of PCM1 reduced primary cilium formation in neurons and glia in culture. (21985783) Mutant Htt drives increased ciliogenesis and the formation of hypermorphic primary cilia, whereas loss of Htt results in reduced ciliogenesis.(21985782) Some GPCRs … HTT localizes in diverse types of cilia — including … non-motile sensory cilia of neurons. (25989602) Primary cilia structure is defective in HD … polyQ-HTT also accumulates in primary cilia. (26160070)", "localization": "cilia, Cytosol, Endosome, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "17296796, 23022101, 18250199, 21985783, 25989602, 26160070 ,21985783", "complex_components": ["HTT", "OPTN", "RAB8A", "CALM1", "TGM2", "DISC1", "PDE4B"], "pfam_ids": ["PF20926", "PF20925", "PF12372", "PF20927"], "domain_descriptions": ["Huntingtin", "Armadillo-like helical", "Armadillo-type fold", "Huntingtin", "N-terminal", "HEAT repeats 2", "Huntingtin family", "Huntingtin", "N-terminal", "HEAT repeats 1", "Huntingtin", "bridge", "Huntingtin", "C-terminal HEAT repeats"], "string_link": "https://string-db.org/network/9606/ENSG00000197386", "synonym": "HD, IT15", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Htt", "ortholog_c_elegans": "htt-1", "ortholog_xenopus": "htt", "ortholog_zebrafish": "htt", "ortholog_drosophila": "htt", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.75, "sd_percent_ciliated": 2.75, "z_score": 2.75, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9606, "sd_percent_ciliated": -2.9606, "z_score": -2.9606, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HUWE1", "ensembl_id": "ENSG00000086758", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:30892]", "omim_id": "300697", "functional_summary": "Mechanistically, we identify HUWE1 as a novel centrosomal E3 ligase that facilitates primary cilia disassembly by targeting TTBK2 degradation. To probe the function of HUWE1, the researchers used a specific chemical inhibitor named BI8622. Inhibiting HUWE1 with this molecule prevented the degradation of TTBK2, which in turn stabilized the cilia and increased the number of ciliated cells. (38879724)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "38879724 ,26167768", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000086758", "synonym": "IB772; KIAA0312; UREB1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Huwe1", "ortholog_c_elegans": "eel-1", "ortholog_xenopus": "huwe1", "ortholog_zebrafish": "huwe1", "ortholog_drosophila": "HUWE1", "screens": [] }, { "gene": "HVCN1", "ensembl_id": "ENSG00000122986", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "hydrogen voltage gated channel 1 [Source:HGNC Symbol,Acc:HGNC:28240]", "omim_id": "611227", "functional_summary": "Hv1 is confined to the principal piece of the sperm flagellum, where it is expressed at unusually high density (20144758).", "localization": "flagella", "functional_category": "Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.0144758E7", "complex_components": {}, "pfam_ids": ["PF00520", "PF16799"], "domain_descriptions": ["Ion transport domain", "Voltage-dependent channel domain superfamily", "Voltage-gated hydrogen channel 1", "C-terminal membrane-localisation domain", "Voltage-gated hydrogen channel 1"], "string_link": "https://string-db.org/network/9606/ENSG00000122986", "synonym": "HV1, MGC15619, VSOP", "ortholog_mouse": "Hvcn1", "ortholog_xenopus": "hvcn1", "ortholog_zebrafish": "hvcn1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.14, "sd_percent_ciliated": 1.14, "z_score": 1.14, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8857, "sd_percent_ciliated": -1.8857, "z_score": -1.8857, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "HYDIN", "ensembl_id": "ENSG00000157423", "overexpression_effects": "Not Reported", "lof_effects": "Motility defects", "percent_ciliated_cells_effects": "Not Reported", "description": "HYDIN axonemal central pair apparatus protein [Source:HGNC Symbol,Acc:HGNC:19368]", "omim_id": "610812", "functional_summary": "Candidate for hydrocephalus in humans and primary ciliary dyskinesia (23022101). Interacts with the central pair proteins CPC1 and kinesin- like protein 1 (KLP1). Required for flagellar motility. Regulation of contact with the radial spokes dynein arm activity (17296796). Lack of Hydin causes deficiency on ciliary orientation and reduced alignment of neighboring cilia, as it is involved in regulating the dynein arms during the transitions between effective and recovery strokes (18250199). Mutations in Hydin impair ciliary motility: cilia unable to bend normally, beat frequency reduced. (18250199) HYDIN mutations cause primary ciliary dyskinesia.(36112114) HYDIN- and SPEF2-mutant cilia lack central pair protein SPEF2. (36112114)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "28411189, 32509774, 19656802, 23022101, 18250199, 36112114, ,23022101", "complex_components": {}, "pfam_ids": ["PF22544", "PF24816", "PF24507", "PF17213", "PF14874"], "domain_descriptions": ["Immunoglobulin-like fold", "P-loop containing nucleoside triphosphate hydrolase", "Hydrocephalus-inducing-like", "Hydin adenylate kinase-like domain", "HYDIN/VesB/CFA65-like", "Ig-like domain", "PapD-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000157423", "synonym": "CILD5, DKFZP434D0513, KIAA1864, PPP1R31", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hydin", "ortholog_xenopus": "hydin", "ortholog_zebrafish": "hydin", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.8633, "sd_percent_ciliated": 11.5122, "z_score": -1.1081 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.936, "sd_percent_ciliated": 0.936, "z_score": 0.936 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5567, "sd_percent_ciliated": -1.5567, "z_score": -1.5567 } ] }, { "gene": "HYLS1", "ensembl_id": "ENSG00000198331", "overexpression_effects": "Not Reported", "lof_effects": "Impaired ciliogenesis", "percent_ciliated_cells_effects": "Reduced", "description": "HYLS1 centriolar and ciliogenesis associated [Source:HGNC Symbol,Acc:HGNC:26558]", "functional_summary": "Required for intraflagellar transport trafficking and for centrioles to form cilia. Loss of HYLS-1 results in severe defects in axoneme assembly and transition zone organisation, due to impaired entry of IFT machinery to the cilia via DYF-19 (28411189). Ciliogenesis mediation by regulating the formation of the ciliary gate, minor role in transition zone assembly. Required for distal centriole elongation and recruiting distal centriole proteins (32509774). Essential for the apical targeting and/or anchoring of centrioles/basal body at the plasma membrane, contributin to basal body organisation (19656802). Loss of HYLS1 inhibits ciliogenesis. RCTE cells treated with HYLS1 siRNAs— percentage of ciliated cells and the length of cilium were quantified. (34162535) HYLS-1 acts as a centriolar scaffold for cilia assembly … HYLS-1 is required for mother centriole to acquire the capacity to form cilia.(19656802) Loss of HYLS-1 compromises the docking and entry of intraflagellar transport particles, ciliary gating for both membrane and soluble proteins, and axoneme assembly. (27534274)", "localization": "basal body, cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transition zone", "reference": "21209331, 27681595, 29220510., 15843405, 19656802, 34162535, 27534274 ,15843405", "complex_components": {}, "pfam_ids": "PF15311", "domain_descriptions": ["Centriolar and ciliogenesis-associated protein HYLS1", "Centriolar and ciliogenesis-associated protein HYLS1", "C-terminal domain", "Centriolar and ciliogenesis-associated protein"], "string_link": "https://string-db.org/network/9606/ENSG00000198331", "synonym": "FLJ32915", "ciliopathy": "Hydrolethalus Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hyls1", "ortholog_c_elegans": "hyls-1", "ortholog_xenopus": "hyls1", "ortholog_zebrafish": "hyls1", "ortholog_drosophila": "Hyls1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.77, "sd_percent_ciliated": 1.77, "z_score": 1.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "IDE", "ensembl_id": "ENSG00000119912", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced", "description": "insulin degrading enzyme [Source:HGNC Symbol,Acc:HGNC:5381]", "omim_id": "146680", "functional_summary": "IDE deficiency triggers impairments in cilia formation, inducing alpha cell hyperplasia and possibly also contributing to dysregulated glucagon secretion and hyperglucago emia ( 35652923). IDE deficiency triggers impairments in cilia formation, inducing alpha cell hyperplasia (35652923) We found a decreased number of cilia in siRNA-Ide cells compared to its control. In addition, we observed that the average length of primary cilia was significantly shorter in siRNA-Ide αTC1.9 cells compared to control cells, indicating that the knockdown of Ide affects correct ciliogenesis.", "localization": "Ciliary associated gene, Cytosol, Microbody, Nucleus, Peroxisome, Mitochondria", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5652923E7", "complex_components": {}, "pfam_ids": ["PF22456", "PF16187", "PF05193", "PF00675"], "domain_descriptions": ["Metalloenzyme", "LuxS/M16 peptidase-like", "Peptidase M16", "middle/third domain", "Peptidase M16", "Coenzyme PQQ synthesis protein F-like", "C-terminal lobe", "domain 4", "Peptidase M16", "zinc-binding site", "Peptidase M16", "C-terminal", "Peptidase M16", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000119912", "ortholog_mouse": "Ide", "ortholog_c_elegans": "C02G6.2, C28F5.4, F44E7.4, Y70C5C.1", "ortholog_xenopus": "ide", "ortholog_zebrafish": "ide", "ortholog_drosophila": "Ide", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.4414, "sd_percent_ciliated": 7.4064, "z_score": 1.1428, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.22, "sd_percent_ciliated": 1.22, "z_score": 1.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.4284, "sd_percent_ciliated": -6.4284, "z_score": -6.4284, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IDH3A", "ensembl_id": "ENSG00000166411", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha [Source:HGNC Symbol,Acc:HGNC:5384]", "omim_id": "601149", "functional_summary": "Mutations in the IDH3A gene cause Retinitis Pigmentosa (PMID: 28412069, 31012789).", "localization": "Ciliary associated gene, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "28412069, 31012789", "complex_components": ["IDH3A", "IDH3B", "IDH3G"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000166411", "ortholog_mouse": "Idh3a", "ortholog_c_elegans": "idha-1", "ortholog_xenopus": "idh3a", "ortholog_zebrafish": "idh3a", "ortholog_drosophila": "Idh3a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.4095, "sd_percent_ciliated": 7.1885, "z_score": 1.0177 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.18, "sd_percent_ciliated": 2.18, "z_score": 2.18 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.4002, "sd_percent_ciliated": -1.4002, "z_score": -1.4002 } ] }, { "gene": "IDH3B", "ensembl_id": "ENSG00000101365", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [Source:HGNC Symbol,Acc:HGNC:5385]", "omim_id": "604526", "functional_summary": "Mutations in the IDH3B gene cause Retinitis Pigmentosa (PMID: 31736247).", "localization": "Ciliary associated gene, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "3.1736247E7", "complex_components": ["IDH3A", "IDH3B", "IDH3G"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101365", "synonym": "RP46", "ortholog_mouse": "Idh3b", "ortholog_c_elegans": "idhb-1", "ortholog_xenopus": "idh3b", "ortholog_zebrafish": "idh3b", "ortholog_drosophila": "Idh3b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.8695, "sd_percent_ciliated": 4.0407, "z_score": -0.7439 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.307, "sd_percent_ciliated": 0.307, "z_score": 0.307 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1497, "sd_percent_ciliated": -2.1497, "z_score": -2.1497 } ] }, { "gene": "IDO1", "ensembl_id": "ENSG00000131203", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "indoleamine 2,3-dioxygenase 1 [Source:HGNC Symbol,Acc:HGNC:6059]", "omim_id": "147435", "functional_summary": "IDO1 has localized in ciliary tip, primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF01231", "domain_descriptions": ["Indoleamine 2", "3-dioxygenase", "Tryptophan/Indoleamine 2", "3-dioxygenase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000131203", "synonym": "IDO, INDO", "ortholog_mouse": "Ido1", "ortholog_zebrafish": "ido1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.301, "sd_percent_ciliated": 0.301, "z_score": 0.301, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3149, "sd_percent_ciliated": -5.3149, "z_score": -5.3149, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT122", "ensembl_id": "ENSG00000163913", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 122 [Source:HGNC Symbol,Acc:HGNC:13556]", "omim_id": "606045", "functional_summary": "Negative regulator of the Shh pathway, controlling the ciliary localization of Shh pathway activators and repressors. Loss of IFT122 causes accumulation of Gli2 and Gli3 at cilia tips. Function in retrograde intraflagellar transport (ITF) that facilitates complex A stability (21209331). Required for transport of opsin, and the distal elongation of outer segments (27681595). IFT122 connects the core and peripheral subcomplexes of the IFT-A (29220510).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "23418020, 29236364, 24619649., 20493458 ,20493458", "complex_components": ["IFT122", "IFT140", "TTC21B", "WDR19", "WDR35", "TULP3", "IFT43"], "pfam_ids": ["PF23377", "PF25144", "PF24762", "PF23381", "PF25143"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Intraflagellar transport protein 122/121 homolog", "IFT122", "second beta-propeller domain", "IFT122", "first beta-propeller domain", "IF140/IFT172/WDR19", "TPR domain", "IFT122", "zinc ribbon domain", "Quinoprotein amine dehydrogenase", "beta chain-like", "Quinoprotein alcohol dehydrogenase-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000163913", "synonym": "CFAP80, FAP80, SPG, WDR10, WDR10P, WDR140", "ciliopathy": "Cranioectodermal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift122", "ortholog_c_elegans": "daf-10", "ortholog_xenopus": "ift122", "ortholog_zebrafish": "ift122", "ortholog_drosophila": "Oseg1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.6833, "sd_percent_ciliated": 3.4784, "z_score": -1.0087, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 77.7, "sd_percent_ciliated": 77.7, "z_score": 77.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.5327, "sd_percent_ciliated": -6.5327, "z_score": -6.5327, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT140", "ensembl_id": "ENSG00000187535", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 140 [Source:HGNC Symbol,Acc:HGNC:29077]", "omim_id": "614620", "functional_summary": "Component of IFT-A complex, mutated in skeletal ciliopathies with kidney disease (23418020). Associates with IFT122 and IFT144 to a stable IFT-A core subcomplex, indispensable for dynein proteins retrograde transport into the cytoplasm and flagellar assembly. Required for development and mainte nce of outer segments, ciliary/flagellar assembly and sig l transduction (29236364, 24619649).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "29659833, 31850339, 18930042, 25168386, 34890546, 26216056, 26968735, 28288023, 23418020 ,34890546; 28288023; 23418020", "complex_components": ["IFT122", "IFT140", "TTC21B", "WDR19", "WDR35", "TULP3", "IFT43"], "pfam_ids": ["PF24762", "PF24760", "PF23383", "PF23385"], "domain_descriptions": ["IF140", "C-terminal TPR domain", "IF140/IFT172/WDR19", "TPR domain", "WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "IFT140", "first beta-propeller domain", "IFT140", "second beta-propeller domain", "Tetratricopeptide-like helical domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000187535", "synonym": "GS114, KIAA0590, WDTC2", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease; Cranioectodermal Dysplasia; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift140", "ortholog_c_elegans": "che-11", "ortholog_xenopus": "ift140", "ortholog_zebrafish": "ift140", "ortholog_drosophila": "rempA", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.2598, "z_score": -1.1699, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 22.6449, "z_score": -1.8615, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.1972 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 33.7, "z_score": 33.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 33.7 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4227, "z_score": -3.4227, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.4227 } ] }, { "gene": "IFT172", "ensembl_id": "ENSG00000138002", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 172 [Source:HGNC Symbol,Acc:HGNC:30391]", "omim_id": "607386", "functional_summary": "Component of IFT complex B. Involved in the switching between the anterograde and retrograde transport (29659833). Essential for ciliary growth and mainte nce, and morphogenesis of the cerebral cortex. Mutation cause alterations in multiple intracellular sig ling pathways (31850339, 18930042). Mutations are associated with severe skeleto-re l disorders with reti l involvement (25168386).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "12821668, 16775004, 27682589, 25168386, 24140113 ,25168386; 24140113", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": ["PF23387", "PF24762", "PF00400"], "domain_descriptions": ["WD40 repeat", "Tetratricopeptide-like helical domain superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "Armadillo-type fold", "WD40-repeat-containing domain superfamily", "IFT80/172/WDR35", "TPR domain", "IF140/IFT172/WDR19", "TPR domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138002", "synonym": "BBS20, NPHP17, OSM-1, SLB, WIM", "ciliopathy": "Bardet–Biedl Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift172", "ortholog_c_elegans": "osm-1", "ortholog_xenopus": "ift172", "ortholog_zebrafish": "ift172", "ortholog_drosophila": "Oseg2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 78.6, "sd_percent_ciliated": 78.6, "z_score": 78.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1619, "sd_percent_ciliated": 0.1619, "z_score": 0.1619, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT20", "ensembl_id": "ENSG00000109083", "overexpression_effects": "Can cause accumulation of ciliary proteins at Golgi", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 20 [Source:HGNC Symbol,Acc:HGNC:30989]", "omim_id": "614394", "functional_summary": "Component of IFT complex B that functions as a link between IFT complex and kinesin II, binding to both IFT57 and KIF3B, making it essential for anterograde transport in cilia and flagella (12821668). Required for ciliary assembly and localisation of polycystin-2 and opsin to cilia (16775004). Essential for spermiogenesis and male fertility (27682589).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone", "reference": "30940671, 31953262", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1", "Ift20", "Ift57", "Ift88", "Pcnt", "Pkd2", "PCNT", "PKD2"], "pfam_ids": "PF14931", "domain_descriptions": "Intraflagellar transport protein 20", "string_link": "https://string-db.org/network/9606/ENSG00000109083", "ortholog_mouse": "Ift20", "ortholog_c_elegans": "ift-20", "ortholog_xenopus": "ift20", "ortholog_zebrafish": "ift20", "ortholog_drosophila": "IFT20", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 101, "sd_percent_ciliated": 101, "z_score": 101, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0117, "sd_percent_ciliated": -1.0117, "z_score": -1.0117, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT22", "ensembl_id": "ENSG00000128581", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 22 [Source:HGNC Symbol,Acc:HGNC:21895]", "omim_id": "620505", "functional_summary": "Also known as RABL5, component of IFT complex B. Controls the cellular levels of both IFT鈥怉 and IFT鈥怋 proteins and to regulate availability of particles participating in IFT (30940671). Recruitment of BBSome to the basal body through BBS3 and regulation of BBSome entry into the cilia (31953262).", "localization": "cilia, basal body,flagella, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "25443296, 25446516, 24843028 ,22076686", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": "PF08477", "domain_descriptions": "P-loop containing nucleoside triphosphate hydrolase", "string_link": "https://string-db.org/network/9606/ENSG00000128581", "synonym": "CFAP9, DKFZP761N0823, FAP9, FLJ13225, FLJ14117, RABL5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift22", "ortholog_c_elegans": "ifta-2", "ortholog_xenopus": "ift22, XB1014132", "ortholog_zebrafish": "ift22", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.313, "sd_percent_ciliated": 0.313, "z_score": 0.313, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "IFT25", "ensembl_id": "ENSG00000081870", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 25 [Source:HGNC Symbol,Acc:HGNC:25019]", "omim_id": "620841", "functional_summary": "Also known as IFT25. Not required in ciliogenesis of somatic cells. Component of IFT-B complex and maight be involved in retrograde transport. Interacts with IFT27 and is indispensable for sperm flagellum axoneme formation, integrity and stability in mice, as well as contributing to the trafficking of sig lling molecules via BBSome complex. (28430876, 28964737, 30709917). Regulation of ciliary trafficking of Hh pathway components, including Patched-1, Smoothened, and Gli2 (26023097, 22595669).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "10924708, 28931427, 10432491 ,19253336", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": "PF00754", "domain_descriptions": ["Coagulation factor 5/8", "C-terminal domain", "Galactose-binding-like domain superfamily", "Intraflagellar transport protein 25"], "string_link": "https://string-db.org/network/9606/ENSG00000081870", "synonym": "C1ORF41, CFAP232, FAP232, HSPB11, HSPCO34, PP25", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift25", "ortholog_xenopus": "ift25", "screens": {} }, { "gene": "IFT27", "ensembl_id": "ENSG00000100360", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 27 [Source:HGNC Symbol,Acc:HGNC:18626]", "omim_id": "615870", "functional_summary": "Also known as RABL4, component of IFT complex B. Forms a complex with IFT25 and associates with IFT-B inside cilia, interacts with and stabilises the nucleotide-free form of ARL6 to promote the exit of BBSome out of cilia. Mutated in Bardet-Biedl syndrome (25443296). Required for BBSome trafficking essential for hedgehog sig ling. IFT25/IFT27 complex plays a role in transporting Gli2 to the ciliary tip (25446516). Role in the cargo loading of the retrograde transport machinery (24843028).", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28973684, 28207750, 24488770 ,24488770", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Intraflagellar transport protein 27 homologue", "eukaryotes", "Rab GTPases family involved in membrane trafficking", "Ras-related protein Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000100360", "synonym": "BBS19, CFAP156, FAP156, RABL4, RAYL", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift27", "ortholog_xenopus": "ift27", "ortholog_zebrafish": "ift27", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 89.2, "sd_percent_ciliated": 89.2, "z_score": 89.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.7707, "sd_percent_ciliated": -8.7707, "z_score": -8.7707, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT43", "ensembl_id": "ENSG00000119650", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 43 [Source:HGNC Symbol,Acc:HGNC:29669]", "omim_id": "614068", "functional_summary": "Component of IFT complex A. Mutations leads to abnormal ciliogenesis (28973684). Interacts with IFT121 to regulate stability of IFT-A, and is essential for ciliogenesis. Involved in transporting ciliary precursors from the cytoplasmic pool to the peri-basal body region (28207750)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "25722189, 29915351, 28701346, 28973684, 28400947, 21378380 ,21378380; 28400947", "complex_components": ["IFT43", "TTC21B", "WDR35", "IFT122", "IFT140", "TULP3", "WDR19"], "pfam_ids": "PF15305", "domain_descriptions": "Intraflagellar transport protein 43", "string_link": "https://string-db.org/network/9606/ENSG00000119650", "synonym": "C14ORF179, FLJ32173, MGC16028", "ciliopathy": "Cranioectodermal Dysplasia; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift43", "ortholog_c_elegans": "Ift-43", "ortholog_xenopus": "ift43", "ortholog_drosophila": "IFT43", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 20.6, "sd_percent_ciliated": 20.6, "z_score": 20.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5661, "sd_percent_ciliated": -0.5661, "z_score": -0.5661, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT46", "ensembl_id": "ENSG00000118096", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 46 [Source:HGNC Symbol,Acc:HGNC:26146]", "omim_id": "620506", "functional_summary": "Component of IFT complex B, required for ciliogenesis and controls cilia number and length (25722189). Plas a role in the transport of IFT proteins between the cytoplasm and cilia (29915351). IFT46 is crucial for transport of ODA16 into the flagellum, it interacts with IFT52 to assembly a subcomplex which is a prerequisite for the assembly of IFT-B1 (28701346).", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "27466190, 28302912, 33628615 ,33628615", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": "PF12317", "domain_descriptions": "Intraflagellar transport complex B protein 46", "string_link": "https://string-db.org/network/9606/ENSG00000118096", "synonym": "C11ORF2, C11ORF60, CFAP32, FAP32, FLJ21827", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift46", "ortholog_c_elegans": "dyf-6", "ortholog_xenopus": "ift46", "ortholog_zebrafish": "ift46", "ortholog_drosophila": "IFT46", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 27.6, "sd_percent_ciliated": 27.6, "z_score": 27.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.7554, "sd_percent_ciliated": -11.7554, "z_score": -11.7554, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT52", "ensembl_id": "ENSG00000101052", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 52 [Source:HGNC Symbol,Acc:HGNC:15901]", "omim_id": "617094", "functional_summary": "Component of IFT complex B. Essential for anterograde complex integrity, biosynthesis and mainte nce of cilia. Regulation of ciliogenesis and cilia length, it also plays a role as a docking site for complex B proteins attaching to the transition fibres of the basal bodies and is required for localization of the IFT-B complex proteins (27466190). Recruits and interacts with IFT46 to assembly a subcomplex which is a prerequisite for the assembly of IFT-B1, it is also required to localise IFT46 to the basal body (28302912).", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Cilia length regulation", "reference": "18492793, 28104816, 26880018, 26880018, 27466190 ,26880018; 26880018, 27466190", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": ["PF21178", "PF23352", "PF23355"], "domain_descriptions": ["Intraflagellar transport protein 52 homolog", "Intraflagellar transport protein 52", "C-terminal domain", "IFT52", "GIFT domain", "IFT52", "central domain"], "string_link": "https://string-db.org/network/9606/ENSG00000101052", "synonym": "C20ORF9, CGI-53, DJ1028D15.1, NGD2, NGD5", "ciliopathy": "Cranioectodermal Dysplasia; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift52", "ortholog_c_elegans": "osm-6", "ortholog_xenopus": "ift52", "ortholog_zebrafish": "ift52", "ortholog_drosophila": "IFT52", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 61.7, "sd_percent_ciliated": 61.7, "z_score": 61.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8212, "sd_percent_ciliated": -2.8212, "z_score": -2.8212, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT56", "ensembl_id": "ENSG00000105948", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 56 [Source:HGNC Symbol,Acc:HGNC:21882]", "omim_id": "617453", "functional_summary": "Also known as IFT56. Regulates normal levels and distribution of IFTB proteins in the cilia. Required for the accumulation of Gli2 and Gli3 at the distal tips of cilia, essential for normal microtubule architecture within the ciliary axoneme and trafficking of Shh sig ling proteins. IFT56 associates with motility factors, function results in impaired motility (28264835). Required for normal development and differentiation in reti and pronephros (22718903). Role in transporting ciliary cargoes related to ciliary motility and for assembling cilia of full length (24596149). Forms a dimer with IFT46, responsible for the interaction of IFT-B with ARL13B (27927754).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "17981992, 31735294,34177428 ,34177428; 22718903", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": "PF12895", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 26"], "string_link": "https://string-db.org/network/9606/ENSG00000105948", "synonym": "DYF-13, DYF13, FLJ12571, TTC26", "ciliopathy": "Biliary, Renal, Neurologic, and Skeletal Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift56", "ortholog_c_elegans": "dyf-13", "ortholog_xenopus": "ift56", "ortholog_zebrafish": "ift56", "ortholog_drosophila": "Ttc26", "screens": {} }, { "gene": "IFT57", "ensembl_id": "ENSG00000114446", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 57 [Source:HGNC Symbol,Acc:HGNC:17367]", "omim_id": "606621", "functional_summary": "Component of IFT complex B. Required for effective transport, outer segment mainte nce and ciliary elongation. Mediates the interaction between IFT20 and the IFT particle (18492793). Trafficking of motility-related proteins and prevents IFT particle complex from degradation (28104816).", "localization": "basal body, cilia, transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "31004481, 23990561, 27060890 ,27060890", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1", "Ift20", "Ift57", "Ift88", "Pcnt", "Pkd2", "PCNT", "PKD2"], "pfam_ids": "PF10498", "domain_descriptions": "Intra-flagellar transport protein 57", "string_link": "https://string-db.org/network/9606/ENSG00000114446", "synonym": "ESRRBL1, FLJ10147, HIPPI, MHS4R2", "ciliopathy": "Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift57", "ortholog_c_elegans": "che-13", "ortholog_xenopus": "ift57", "ortholog_zebrafish": "ift57", "ortholog_drosophila": "IFT57", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 129, "sd_percent_ciliated": 129, "z_score": 129, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3997, "sd_percent_ciliated": -6.3997, "z_score": -6.3997, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT70A", "ensembl_id": "ENSG00000197557", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 70A [Source:HGNC Symbol,Acc:HGNC:25853]", "omim_id": "620741", "functional_summary": "Also known as IFT70A. Component of the IFT-B complex. Crucial for interaction with IFT52鈥揑FT88 dimer in the IFT-B complex, which is required for ciliogenesis. Knockout cells do not form cilia. (296541164). Required for flagella assembly. Depletion results in the formation of short flagella (20534810).", "localization": "cilia, flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "29654116, 2053481,34548398 ,34548398; 20534810", "complex_components": {}, "pfam_ids": "PF13432", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 30"], "string_link": "https://string-db.org/network/9606/ENSG00000197557", "synonym": "CFAP259, FAP259, FLJ13946, TTC30A", "ciliopathy": "Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift70a1, Ift70a2", "ortholog_c_elegans": "dyf-1", "ortholog_xenopus": "ift70a", "ortholog_zebrafish": "ift70", "ortholog_drosophila": "Ttc30", "screens": {} }, { "gene": "IFT70B", "ensembl_id": "ENSG00000196659", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 70B [Source:HGNC Symbol,Acc:HGNC:26425]", "omim_id": "620742", "functional_summary": "Also known as IFT70B. Component of the IFT-B complex. Redundant roles with IFT70A. Interacts with the IFT52鈥揑FT88 dimer in the IFT-B1 subcomplex, required for ciliogenesis. Knockout cells do not form cilia. (296541164). Required for flagella assembly. Depletion results in the formation of short flagella (20534810).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "32055034 ,20534810", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000196659", "synonym": "FLEER, FLJ30990, TTC30B", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift70a2, Ift70b", "ortholog_c_elegans": "dyf-1", "ortholog_xenopus": "ift70a", "ortholog_zebrafish": "ift70", "ortholog_drosophila": "Ttc30", "screens": {} }, { "gene": "IFT74", "ensembl_id": "ENSG00000096872", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 74 [Source:HGNC Symbol,Acc:HGNC:21424]", "omim_id": "608040", "functional_summary": "Component of IFT complex B. Interacts with IFT81 to stabilise IFT-B complex. This interaction is required for binding and transport of tubulin to regulate cilium length, required for ciliogenesis (23990561). Essential for normal mouse spermatogenesis and sperm flagella formation by transporting cargo proteins and modulating axoneme and microtubule assembly (31004481).", "localization": "cilia, basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "22771375, 29658880, 27486776, 33531668, 34539760 ,27486776; 33531668, 34539760; 15024030", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000096872", "synonym": "CCDC2, CMG-1, CMG1, FLJ22621", "ciliopathy": "Bardet–Biedl Syndrome; Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift74", "ortholog_c_elegans": "ift-74", "ortholog_xenopus": "ift74", "ortholog_zebrafish": "ift74", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 14.9, "sd_percent_ciliated": 14.9, "z_score": 14.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.013, "sd_percent_ciliated": 0.013, "z_score": 0.013, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT80", "ensembl_id": "ENSG00000068885", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 80 [Source:HGNC Symbol,Acc:HGNC:29262]", "omim_id": "611177", "functional_summary": "Component of IFT complex B. Role in cilia formation and osteogenesis through regulating Hedgehog/Gli sig l pathways. Silencing IFT80 led to either shortening or loss of cilia and the decrease of cilia marker protein Arl13b expression. Mutations cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly type III (SRPIII) (22771375). Required for IFT mediated recruitment and transport of ciliary cargo, as well as for initiation of the ciliary axoneme (29658880).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, ECM & connective tissue", "reference": "27068536, 23990561, 17468754 ,17468754; 15137945, 17468754", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": ["PF23335", "PF23387", "PF00400"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "IFT80/172/WDR35", "TPR domain", "IFT80", "second beta-propeller domain"], "string_link": "https://string-db.org/network/9606/ENSG00000068885", "synonym": "CFAP167, FAP167, KIAA1374, WDR56", "ciliopathy": "Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift80", "ortholog_c_elegans": "che-2", "ortholog_xenopus": "ift80", "ortholog_zebrafish": "ift80", "ortholog_drosophila": "Oseg5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 142, "sd_percent_ciliated": 142, "z_score": 142, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2628, "sd_percent_ciliated": -2.2628, "z_score": -2.2628, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT81", "ensembl_id": "ENSG00000122970", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 81 [Source:HGNC Symbol,Acc:HGNC:14313]", "omim_id": "605489", "functional_summary": "Component of IFT complex B. Interacts with IFT74 to form a tubulin-binding module that is the main site of tubulin binding for IFT and is required for ciliogenesis. Both are essential for flagellar assembly and elongation (27068536, 23990561).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "11062270, 27666822, 37427975 ,37427975; 27666822", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1"], "pfam_ids": "PF18383", "domain_descriptions": ["Intraflagellar transport protein 81", "IFT81", "calponin homology domain", "IFT81", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000122970", "synonym": "CDV-1R, CDV1, MGC4027", "ciliopathy": "Bardet–Biedl Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift81", "ortholog_c_elegans": "ift-81", "ortholog_xenopus": "ift81", "ortholog_zebrafish": "ift81", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 79.7, "sd_percent_ciliated": 79.7, "z_score": 79.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7568, "sd_percent_ciliated": -1.7568, "z_score": -1.7568, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFT88", "ensembl_id": "ENSG00000032742", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "intraflagellar transport 88 [Source:HGNC Symbol,Acc:HGNC:20606]", "omim_id": "600595", "functional_summary": "Component of IFT complex B. Required for ciliary and flagellar assembly and may play a role in the attachment of the IFT particle to its cargo or to the anterograde IFT motor FLA10-kinesin-II (11062270).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "11916979 ,11062270", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1", "DZIP1", "Ift20", "Ift57", "Ift88", "Pcnt", "Pkd2", "PCNT", "PKD2"], "pfam_ids": ["PF13432", "PF13181", "PF13174", "PF13424", "PF00515"], "domain_descriptions": ["Sel1-like repeat", "Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000032742", "synonym": "D13S1056E, HTG737, MGC26259, TG737, TTC10", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ift88", "ortholog_c_elegans": "osm-5", "ortholog_xenopus": "ift88", "ortholog_zebrafish": "ift88", "ortholog_drosophila": "nompB", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 76.7, "sd_percent_ciliated": 76.7, "z_score": 76.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.1648, "sd_percent_ciliated": -6.1648, "z_score": -6.1648, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IFTAP", "ensembl_id": "ENSG00000166352", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "intraflagellar transport associated protein [Source:HGNC Symbol,Acc:HGNC:25142]", "omim_id": "619270", "functional_summary": "C11ORF74, interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit IFT139, suggesting that at least a fraction of C11ORF74 molecules can be transported towards the ciliary tip by associating with the IFT-A complex, although its majority might be out of cilia at steady state (30476139).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "30476139 ,30476139", "complex_components": {}, "pfam_ids": "PF17722", "domain_descriptions": "Intraflagellar transport-associated protein", "string_link": "https://string-db.org/network/9606/ENSG00000166352", "synonym": "C11ORF74, FLJ38678, HEPIS, NWC", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iftap", "ortholog_xenopus": "iftap", "ortholog_zebrafish": "iftap", "screens": {} }, { "gene": "IGBP1", "ensembl_id": "ENSG00000089289", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "immunoglobulin binding protein 1 [Source:HGNC Symbol,Acc:HGNC:5461]", "omim_id": "300139", "functional_summary": "IGBP1 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["IGBP1", "MID1", "PPP2CA", "ANKRD28", "ANKRD44", "ANKRD52", "PPP6C", "PPP6R1", "PPP6R2", "PPP6R3"], "pfam_ids": "PF04177", "domain_descriptions": ["TAP46-like protein", "TAP42/TAP46-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000089289", "synonym": "A4, IBP1", "ortholog_mouse": "Igbp1", "ortholog_c_elegans": "ppfr-4", "ortholog_xenopus": "igbp1", "ortholog_zebrafish": "igbp1", "ortholog_drosophila": "Tap42", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.5347, "sd_percent_ciliated": 2.7008, "z_score": 0.5483, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.81, "sd_percent_ciliated": 1.81, "z_score": 1.81, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.7175, "sd_percent_ciliated": -6.7175, "z_score": -6.7175, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IGBP1C", "ensembl_id": "ENSG00000266826", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IGBP1 family member C [Source:HGNC Symbol,Acc:HGNC:43611]", "functional_summary": "IGBP1C has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF04177", "domain_descriptions": ["TAP46-like protein", "TAP42/TAP46-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000266826", "synonym": "IGBP1P2", "ortholog_mouse": "Igbp1, Igbp1b", "ortholog_c_elegans": "ppfr-4", "ortholog_xenopus": "igbp1", "ortholog_zebrafish": "igbp1", "ortholog_drosophila": "Tap42", "screens": {} }, { "gene": "IGF1", "ensembl_id": "ENSG00000017427", "overexpression_effects": "Not Reported", "lof_effects": "Ciliary resorption", "percent_ciliated_cells_effects": "Not Reported", "description": "insulin like growth factor 1 [Source:HGNC Symbol,Acc:HGNC:5464]", "omim_id": "147440", "functional_summary": "IGF-1 sig ls are predomi ntly transduced through IGF-1 receptor (IGF- 1R) on the cilia. Promotes cell cycle entry. Mediation of ciliary resorption through activation of IGF-1R (23954591). IGF1 mediated sig ling regulates ciliated cell differentiation (28050756). IGF-1 accelerates G1-S progression by causing cilia to resorb. (23954591) The mitogenic signals of IGF-1 are predominantly transduced through IGF-1 receptor (IGF-1R) on the cilia of fibroblasts and epithelial cells. (23954591)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "23954591, 28050756,", "complex_components": ["IGF1", "IGFALS", "IGFBP3", "IGF1R", "ITGAV", "ITGB3", "ITGA6", "ITGB4", "IGFBP5"], "pfam_ids": "PF00049", "domain_descriptions": ["Insulin-like", "Insulin-like growth factor I", "Insulin-like growth factor", "Insulin family", "Insulin", "conserved site", "Insulin-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000017427", "synonym": "IGF, IGF-I, IGF1A, IGFI", "ortholog_mouse": "Igf1", "ortholog_xenopus": "igf1", "ortholog_zebrafish": "igf1", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.2597, "sd_percent_ciliated": 4.2227, "z_score": -0.3331 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.427, "sd_percent_ciliated": 0.427, "z_score": 0.427 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.749, "sd_percent_ciliated": -3.749, "z_score": -3.749 } ] }, { "gene": "IGF1R", "ensembl_id": "ENSG00000140443", "overexpression_effects": "Not Reported", "lof_effects": "Ciliary resorption", "percent_ciliated_cells_effects": "Not Reported", "description": "insulin like growth factor 1 receptor [Source:HGNC Symbol,Acc:HGNC:5465]", "omim_id": "147370", "functional_summary": "Activation of an AGS3- regulated G尾gamma sig ling pathway that subsequently recruits phospho(T94)Tctex-1 to the transition zone, leading to cilia resorption (23954591). IGF1R mediated plays a role in regulating ciliated cell differentiation (28050756). IGF-1 accelerates G1-S progression by causing cilia to resorb. (23954591)", "localization": "basal body ,cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone", "reference": "23805271, 23954591", "complex_components": ["ESR1", "IGF1R", "SHC1", "CXCR4", "GNAI2", "GNB1", "IGF1", "ITGAV", "ITGB3", "ITGA6", "ITGB4", "GH1", "GHR", "JAK2"], "pfam_ids": ["PF01030", "PF00757", "PF07714"], "domain_descriptions": ["Receptor L-domain", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class II", "conserved site", "Fibronectin type III", "Furin-like cysteine-rich domain", "Furin-like repeat", "Tyrosine-protein kinase", "active site", "Growth factor receptor cysteine-rich domain superfamily", "Protein kinase-like domain superfamily", "Immunoglobulin-like fold", "Tyrosine-protein kinase", "insulin-like receptor", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Fibronectin type III superfamily", "Receptor L-domain superfamily", "Receptor Tyrosine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000140443", "synonym": "CD221, IGFIR, IGFR, JTK13, MGC18216", "ortholog_mouse": "Igf1r", "ortholog_c_elegans": "daf-2", "ortholog_xenopus": "igf1r", "ortholog_zebrafish": "igf1ra, igf1rb", "ortholog_drosophila": "InR", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.7288, "sd_percent_ciliated": 2.6176, "z_score": 0.0872 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.82, "sd_percent_ciliated": 9.82, "z_score": 9.82 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1684, "sd_percent_ciliated": -2.1684, "z_score": -2.1684 } ] }, { "gene": "IHH", "ensembl_id": "ENSG00000163501", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Indian hedgehog signaling molecule [Source:HGNC Symbol,Acc:HGNC:5956]", "omim_id": "600726", "functional_summary": "Primary cilia modulate IHH sig l transduction in response to hydrostatic loading of growth plate chondrocytes ( 21930256)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "2.1930256E7", "complex_components": {}, "pfam_ids": ["PF01079", "PF01085"], "domain_descriptions": ["Hedgehog", "N-terminal signalling domain", "Hedgehog protein", "Hedgehog protein", "Hint domain", "Hint domain C-terminal", "Hint domain N-terminal", "Intein N-terminal splicing region", "Hedgehog signalling/DD-peptidase zinc-binding domain superfamily", "Hint domain superfamily", "Hedgehog Signaling"], "string_link": "https://string-db.org/network/9606/ENSG00000163501", "synonym": "BDA1, HHG2", "ortholog_mouse": "Ihh", "ortholog_c_elegans": "grd-1, grd-11, grd-2, hog-1, qua-1, wrt-1, wrt-4, wrt-7, wrt-8", "ortholog_xenopus": "ihh", "ortholog_zebrafish": "ihha, ihhb", "ortholog_drosophila": "hh", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.4826, "z_score": -1.2394, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 26.3822, "z_score": -1.4087, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.4271 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.681, "z_score": 0.681, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.681 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6612, "z_score": -0.6612, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.6612 } ] }, { "gene": "IK", "ensembl_id": "ENSG00000113141", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "IK cytokine [Source:HGNC Symbol,Acc:HGNC:5958]", "omim_id": "600549", "functional_summary": "IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1 ( 37898820). Loss of ik in zebrafish embryos displays various ciliopathy phenotypes … Depletion of ik resulted in downregulation of ofd1 expression with ciliary defects. Quantified graphs of cilia lengths and numbers in the inner ear between control and ik mutants at 2 dpf. (37898820) RNA sequencing analysis revealed that ik positively regulated ofd1 expression required for cilium assembly. (37898820)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "3.789882E7", "complex_components": {}, "pfam_ids": ["PF07808", "PF07807"], "domain_descriptions": ["RED-like", "N-terminal", "Protein Red-like", "Protein RED", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000113141", "synonym": "RED, RER", "ortholog_mouse": "Ik", "ortholog_c_elegans": "smu-2", "ortholog_xenopus": "ik", "ortholog_zebrafish": "ik", "ortholog_drosophila": "beag", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.859, "z_score": -1.9814, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 15.7247, "z_score": -2.6999, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.9712 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.66, "z_score": 7.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 7.66 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -20.2855, "z_score": -20.2855, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -20.2855 } ] }, { "gene": "IL10RA", "ensembl_id": "ENSG00000110324", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "interleukin 10 receptor subunit alpha [Source:HGNC Symbol,Acc:HGNC:5964]", "omim_id": "146933", "functional_summary": "IL10RA has localized in primary cilia.", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["IL10", "IL10RA", "IL10RB"], "pfam_ids": "PF01108", "domain_descriptions": ["Fibronectin type III", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Type II Cytokine and Tissue Factor Receptors"], "string_link": "https://string-db.org/network/9606/ENSG00000110324", "synonym": "CD210, CD210A, CDW210A, HIL-10R, IL10R", "ortholog_mouse": "Il10ra", "ortholog_xenopus": "il10ra", "ortholog_zebrafish": "il10ra", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.4284, "sd_percent_ciliated": 4.4621, "z_score": 1.3835 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1841, "sd_percent_ciliated": -0.1841, "z_score": -0.1841 } ] }, { "gene": "IL13", "ensembl_id": "ENSG00000169194", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "interleukin 13 [Source:HGNC Symbol,Acc:HGNC:5973]", "omim_id": "147683", "functional_summary": "Treatment of cultured differentiated human airway epithelial tissue with IL-13 resulted in a loss of ciliated epithelial cells and an increase in mucus-secreting cells. In addition to the loss of ciliated cells and increase in mucous cells after IL-13 treatment, cells with characteristics of both ciliated and mucous cells were observed in the airway epithelium ( 17541011). Treatment of cultured differentiated human airway epithelial tissue with IL-13 resulted in a loss of ciliated epithelial cells and an increase in mucus-producing cells.(17541011) IL-13 regulates cilia loss and foxj1 expression in human airway epithelium. (17541011)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cardiac & muscle development", "reference": "1.7541011E7", "complex_components": ["IL13", "IL13RA2", "IL13RA1", "IL4R", "TMEM219"], "pfam_ids": "PF03487", "domain_descriptions": ["Interleukin-4/interleukin-13", "Four-helical cytokine-like", "core", "Interleukin-4/interleukin-13", "conserved site", "Interleukin-13"], "string_link": "https://string-db.org/network/9606/ENSG00000169194", "synonym": "ALRH, BHR1, IL-13, MGC116786, MGC116788, MGC116789, P600", "ortholog_mouse": "Il13", "ortholog_zebrafish": "il13", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.0907, "sd_percent_ciliated": 0.3201, "z_score": -0.7171, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.76, "sd_percent_ciliated": 1.76, "z_score": 1.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.3397, "sd_percent_ciliated": 2.3397, "z_score": 2.3397, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IL17A", "ensembl_id": "ENSG00000112115", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "interleukin 17A [Source:HGNC Symbol,Acc:HGNC:5981]", "omim_id": "603149", "functional_summary": "ringenin exerted its protective effect on ciliary structure and number in part via modulation of the IL-17 sig ling pathway. ringenin prevented CSE-induced cilia damage via mechanisms such as the upregulation of inflammatory factors (e.g., IL-6, IL-8, IL-13), ROS and MDA. IL-17 sig ling pathway might be involved in the protective effect of ringenin on airway cilia ( 38359483). Both IL17A and IL22 were found to reduce the number of ciliated cells. IL17A, but not IL22, suppressed ciliogenesis by disrupting the proper development and docking of the basal body of ciliated cells, resulting in motile ciliary dysfunctions. (39033934)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "38359483, 39033934", "complex_components": ["IL17A", "IL17RA", "IL17RC", "IL17F", "IL17RD"], "pfam_ids": "PF06083", "domain_descriptions": ["Interleukin-17 family", "Interleukin-17", "chordata", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000112115", "synonym": "CTLA8, IL-17, IL-17A, IL17", "ortholog_mouse": "Il17a", "ortholog_zebrafish": "il17a/f1, il17a/f3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3559, "sd_percent_ciliated": -6.3559, "z_score": -6.3559, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IL1B", "ensembl_id": "ENSG00000125538", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "interleukin 1 beta [Source:HGNC Symbol,Acc:HGNC:5992]", "omim_id": "147720", "functional_summary": "IL-1β-induces primary cilia elongation with alterations to cilia trafficking of arl13b ( 24330727). The approximate 50 % increase in cilia length was also observed using IL-1β at both a lower, 2 ng mL⁻¹, and a higher, 50 ng mL⁻¹, concentration. (22481441) These findings suggest that IL-1β increases ciliogenesis in NHMEE cells and that MUC8 protein may play a role in this process. (15966694) Treatment with IL-1β … significantly increased the length of primary cilia in chondrocytes and fibroblasts (33644059)", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation, Cilia length regulation", "reference": "24330727, 22481441, 15966694, 33644059", "complex_components": ["IL1B", "IL1R1", "IL1RAP", "FLT4"], "pfam_ids": ["PF00340", "PF02394"], "domain_descriptions": ["Interleukin-1 family", "Interleukin-1 propeptide", "Cytokine IL1/FGF", "Interleukin-1 conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000125538", "synonym": "IL-1B, IL1-BETA, IL1F2", "ortholog_mouse": "Il1b", "ortholog_xenopus": "il1b, LOC105946938", "ortholog_zebrafish": "il1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.7203, "sd_percent_ciliated": 10.4236, "z_score": 1.4189 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.12, "sd_percent_ciliated": 2.12, "z_score": 2.12 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9878, "sd_percent_ciliated": -0.9878, "z_score": -0.9878 } ] }, { "gene": "IL1RL2", "ensembl_id": "ENSG00000115598", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "interleukin 1 receptor like 2 [Source:HGNC Symbol,Acc:HGNC:5999]", "omim_id": "604512", "functional_summary": "IL-1RL2 localization was clear at expanded cilia of distal tubules epithelial cells after unilateral ureter obstruction (29109726).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9109726E7", "complex_components": ["IL1RAP", "IL1RL2", "IL36A", "IL36G", "IL36B", "IL36RN"], "pfam_ids": ["PF01582", "PF13895"], "domain_descriptions": ["Toll/interleukin-1 receptor homology (TIR) domain", "Interleukin-1 receptor type I/II", "Immunoglobulin-like fold", "Interleukin-1 receptor family", "Toll/interleukin-1 receptor homology (TIR) domain superfamily", "Immunoglobulin-like domain superfamily", "Immunoglobulin domain subtype", "Interleukin-1 receptor type 1", "Immunoglobulin-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000115598", "synonym": "IL-36R, IL1R-RP2, IL1RRP2", "ortholog_mouse": "Il1rl2", "ortholog_xenopus": "il1r1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.0607, "sd_percent_ciliated": 3.5716, "z_score": 0.8543, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.2633, "sd_percent_ciliated": 1.2633, "z_score": 1.2633, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IL6", "ensembl_id": "ENSG00000136244", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "interleukin 6 [Source:HGNC Symbol,Acc:HGNC:6018]", "omim_id": "147620", "functional_summary": "Interleukin-1 (IL-1) stimulates ciliary elongation through Rho-actin dependent modulation of anterograde intraflagellar trafficking. This elongation is enhanced in the presence of interleukin-6 (IL-6) ( 24330727). IL-6/STAT3 promotes regeneration of airway ciliated cells from basal stem cells( 25136113) IL-6 at 1000 pg/mL significantly decreased ciliary beat frequency. IL-6 stimulated the generation of ciliated vs. secretory cells from basal cells. In Il-6 null mice regenerate fewer ciliated cells after injury. Loss of primary cilia resulted in reduced IL-6 protein levels. (17888432, 25136113, 38188300)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "24330727 , 25136113, 17888432, 38188300", "complex_components": ["IL6", "IL6R", "IL6ST"], "pfam_ids": "PF00489", "domain_descriptions": ["Interleukin-6-like", "Four-helical cytokine-like", "core", "Interleukin-6/GCSF/MGF", "conserved site", "Interleukin-6/GCSF/MGF"], "string_link": "https://string-db.org/network/9606/ENSG00000136244", "synonym": "BSF2, HGF, HSF, IFNB2, IL-6", "ortholog_mouse": "Hgf, Il6", "ortholog_xenopus": "hgf, il6", "ortholog_zebrafish": "hgfa, hgfb, il6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.3166, "sd_percent_ciliated": 0.1019, "z_score": 0.0372 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.34, "sd_percent_ciliated": 0.34, "z_score": 0.34 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.7879, "sd_percent_ciliated": -3.7879, "z_score": -3.7879 } ] }, { "gene": "IMMP2L", "ensembl_id": "ENSG00000184903", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "inner mitochondrial membrane peptidase subunit 2 [Source:HGNC Symbol,Acc:HGNC:14598]", "omim_id": "605977", "functional_summary": "IMMP2L has localized in basal body,flagella.", "localization": "basal body,flagella, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF10502", "domain_descriptions": ["Peptidase S26A", "signal peptidase I", "Peptidase S26", "Peptidase S26A", "signal peptidase I", "conserved site", "LexA/Signal peptidase-like superfamily", "Mitochondrial inner membrane protease subunit 2"], "string_link": "https://string-db.org/network/9606/ENSG00000184903", "synonym": "IMMP2L-IT1, IMP2", "ortholog_mouse": "Immp2l", "ortholog_c_elegans": "immp-2", "ortholog_xenopus": "immp2l", "ortholog_zebrafish": "immp2l", "ortholog_drosophila": "CG11110", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.6378, "sd_percent_ciliated": 8.3465, "z_score": -0.1662, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.18, "sd_percent_ciliated": 1.18, "z_score": 1.18, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3866, "sd_percent_ciliated": -5.3866, "z_score": -5.3866, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IMPDH1", "ensembl_id": "ENSG00000106348", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "inosine monophosphate dehydrogenase 1 [Source:HGNC Symbol,Acc:HGNC:6052]", "omim_id": "146690", "functional_summary": "Mutations in the IMPDH1 gene cause Retinitis Pigmentosa and Leber Congenital Amaurosis (PMID: 11875050, 16384941).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "11875050, 16384941 ,16384941; 11875050", "complex_components": "IMPDH1", "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000106348", "synonym": "LCA11, RP10, SWSS2608", "ciliopathy": "Leber Congenital Amaurosis; Retinitis Pigmentosa", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Impdh1", "ortholog_c_elegans": "T22D1.3", "ortholog_xenopus": "impdh1", "ortholog_zebrafish": "impdh1a, impdh1b", "ortholog_drosophila": "ras", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.2612, "sd_percent_ciliated": 1.6645, "z_score": 1.2421 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.82, "sd_percent_ciliated": 4.82, "z_score": 4.82 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2092, "sd_percent_ciliated": 0.2092, "z_score": 0.2092 } ] }, { "gene": "IMPG1", "ensembl_id": "ENSG00000112706", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "interphotoreceptor matrix proteoglycan 1 [Source:HGNC Symbol,Acc:HGNC:6055]", "omim_id": "602870", "functional_summary": "Blocking the action of CD44 and IMPG1 in pluripotent stem cell derived reti l organoids affected the development of photoreceptors, their inner/outer segments and connecting cilia and disrupted IPM formation, with IMPG1 having an earlier and more significant impact (29777959).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29777959, 32817297", "complex_components": {}, "pfam_ids": "PF01390", "domain_descriptions": ["SEA domain", "EGF-like domain", "SEA domain superfamily", "Interphotoreceptor matrix proteoglycan"], "string_link": "https://string-db.org/network/9606/ENSG00000112706", "synonym": "GP147, IPM150, SPACR", "ortholog_mouse": "Impg1", "ortholog_xenopus": "impg1", "ortholog_zebrafish": "impg1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.299, "sd_percent_ciliated": 11.6691, "z_score": -1.1765, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.943, "sd_percent_ciliated": 0.943, "z_score": 0.943, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.6277, "sd_percent_ciliated": 2.6277, "z_score": 2.6277, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IMPG2", "ensembl_id": "ENSG00000081148", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "interphotoreceptor matrix proteoglycan 2 [Source:HGNC Symbol,Acc:HGNC:18362]", "omim_id": "607056", "functional_summary": "Mutations in IMPG2 are associated with retinitis pigmentosa and vitelliform macular dystrophy (20673862). When probed with an antibody raised to its C-termi l intracellular domain, IMPG2 immunoreactivity was mostly found within the ellipsoid and myoid zones of the inner segment in normal photoreceptors. In normal photoreceptors, CEP290 allows entry of outer segment-bound proteins while blocking that of inner segment proteins such as STX3, STXBP1, S P25, and IMPG2. In Cep290fl/fl,Cre+ reti s, however, a significant amount of IMPG2 immunoreactivity was detected in outer segments in addition to inner segments (31694913).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "20673862 , 31694913, 20673862", "complex_components": {}, "pfam_ids": "PF01390", "domain_descriptions": ["SEA domain", "EGF-like domain", "SEA domain superfamily", "Interphotoreceptor matrix proteoglycan"], "string_link": "https://string-db.org/network/9606/ENSG00000081148", "synonym": "IPM200, RP56, SPACRCAN", "ortholog_mouse": "Impg2", "ortholog_xenopus": "impg2", "ortholog_zebrafish": "impg2a, impg2b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.3613, "sd_percent_ciliated": 9.9667, "z_score": -0.6843, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0257, "sd_percent_ciliated": 0.0257, "z_score": 0.0257, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1289, "sd_percent_ciliated": -0.1289, "z_score": -0.1289, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "INPP5B", "ensembl_id": "ENSG00000204084", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "inositol polyphosphate-5-phosphatase B [Source:HGNC Symbol,Acc:HGNC:6077]", "omim_id": "147264", "functional_summary": "Compensatory role in cilia development and regulation. Regulation of ciliary length (23805271). INPP5B localizes to primary cilia; silencing causes defects in cilia formation. INPP5B knockdown reduces ciliated cell percentage (24h & 48h) and shortens cilia lengths (e.g. ~5.1 vs ~2.8 µm at 48h). In zebrafish, inpp5b morphants show shorter cilia in Kupffer’s vesicle, and the phenotype is rescued by wildtype mRNA. (36547473, 23805271)", "localization": "basal body, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Cilia length regulation", "reference": "27998989, 19668215, 19668216, 36547473, 23805271", "complex_components": {}, "pfam_ids": ["PF00620", "PF21310", "PF22669", "PF16776"], "domain_descriptions": ["Rho GTPase-activating protein domain", "Inositol polyphosphate-related phosphatase", "Rho GTPase activation protein", "Immunoglobulin-like fold", "Endonuclease/exonuclease/phosphatase superfamily", "OCRL1/INPP5B", "INPP5c domain", "Inositol 5-phosphatase", "Inositol polyphosphate 5-phosphatase OCRL", "RhoGAP", "OCRL-1/2", "ASH domain", "INPP5B", "PH domain"], "string_link": "https://string-db.org/network/9606/ENSG00000204084", "ortholog_mouse": "Inpp5b", "ortholog_c_elegans": "ocrl-1", "ortholog_xenopus": "inpp5b", "ortholog_zebrafish": "inpp5b", "ortholog_drosophila": "Ocrl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.7488, "sd_percent_ciliated": 13.3678, "z_score": -0.2739 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.23, "sd_percent_ciliated": 1.23, "z_score": 1.23 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.7788, "sd_percent_ciliated": -4.7788, "z_score": -4.7788 } ] }, { "gene": "INPP5E", "ensembl_id": "ENSG00000148384", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "inositol polyphosphate-5-phosphatase E [Source:HGNC Symbol,Acc:HGNC:21474]", "omim_id": "613037", "functional_summary": "Regulator of transition zone function. INPP5E may regulate Hedgehog sig ling via modulating the PI(4,5)P2- dependent recruitment of GPR161 to cilia. It is essential for maximal SMO accumulation at cilia after the Hh pathway (27998989). Controls ciliary growth factor, PI3K sig ling and stability (19668215). Mutations cause Joubert Syndrome and promotes premature destabilization of cilia (19668216). Suppressing inpp5e leads to shorter and fewer cilia in Kupffer’s vesicle. (39781470) Loss of INPP5E destabilizes ciliary axoneme and leads to resorption.(27998989) Inpp5e morphants have shortened and decreased cilia formation in zebrafish ducts. (23022135) INPP5E is required on ciliary membrane for regulating phosphoinositide levels, ciliogenesis, stability and signaling. (35463949) Down-regulation of Inpp5e led to reduced number and length of primary cilia in NIH3T3 cells. (34093381)", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "16493421, 27158779, 28459465, 19668215, 33711342, 19668216, 23386033, 39781470, 27998989, 23022135, 35463949, 34093381 ,19668216, 23386033; 33711342; 19668215", "complex_components": ["AURKA", "INPP5E", "PDE6D", "RPGR"], "pfam_ids": "PF22669", "domain_descriptions": ["Inositol polyphosphate-related phosphatase", "Endonuclease/exonuclease/phosphatase superfamily", "72kDa inositol polyphosphate 5-phosphatase"], "string_link": "https://string-db.org/network/9606/ENSG00000148384", "synonym": "CORS1, JBTS1, PHARBIN, PPI5PIV", "ciliopathy": "Joubert Syndrome; Leber Congenital Amaurosis; Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Inpp5e", "ortholog_c_elegans": "inpp-1", "ortholog_xenopus": "inpp5e, LOC101731958, LOC101734556, LOC101734627, LOC101735025, LOC116409534", "ortholog_zebrafish": "inpp5e", "ortholog_drosophila": "INPP5E", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.2598, "sd_percent_ciliated": 5.7366, "z_score": -0.212 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.7, "sd_percent_ciliated": 11.7, "z_score": 11.7 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.587, "sd_percent_ciliated": -4.587, "z_score": -4.587 } ] }, { "gene": "INSR", "ensembl_id": "ENSG00000171105", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "insulin receptor [Source:HGNC Symbol,Acc:HGNC:6091]", "omim_id": "147670", "functional_summary": "INSR has localized in basal body ,transition zone.", "localization": "cilia,basal body ,transition zone", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["INSR", "SNX1", "Irs1", "Khdrbs1", "Pik3r1", "Iqgap1", "IRS1", "PIK3R1", "SNX2", "SNX4", "INS"], "pfam_ids": ["PF07714", "PF00041", "PF00757", "PF17870", "PF01030"], "domain_descriptions": ["Receptor L-domain", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class II", "conserved site", "Fibronectin type III", "Furin-like cysteine-rich domain", "Furin-like repeat", "Tyrosine-protein kinase", "active site", "Growth factor receptor cysteine-rich domain superfamily", "Protein kinase-like domain superfamily", "Immunoglobulin-like fold", "Tyrosine-protein kinase", "insulin-like receptor", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Fibronectin type III superfamily", "Receptor L-domain superfamily", "Insulin receptor", "trans-membrane domain", "Receptor Tyrosine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000171105", "synonym": "CD220", "ortholog_mouse": "Insr", "ortholog_c_elegans": "daf-2", "ortholog_xenopus": "insr", "ortholog_zebrafish": "insra, insrb", "ortholog_drosophila": "InR", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.1663, "sd_percent_ciliated": 2.5491, "z_score": 0.3825, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.81, "sd_percent_ciliated": 2.81, "z_score": 2.81, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.846, "sd_percent_ciliated": -3.846, "z_score": -3.846, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "INTS13", "ensembl_id": "ENSG00000064102", "overexpression_effects": "Not Reported", "lof_effects": "Loss of primary cilia", "percent_ciliated_cells_effects": "Decreased", "description": "integrator complex subunit 13 [Source:HGNC Symbol,Acc:HGNC:20174]", "omim_id": "615079", "functional_summary": "Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Mutations in INTS13 cause an autosomal recessive ciliopathy, which reveals key interactions between components of the Integrator complex ( 36229431). Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Accordingly, its knockdown in Xenopus embryos leads to motile cilia anomalies. INTS13 depletion leads to a loss of primary cilia and broad transcriptional perturbation of ciliary genes. (36229431) INTS13 acts synergistically with transcription factors … the aggravated effect on cilia loss by simultaneous depletion of INTS13 … directly linked to sensory cilia formation(38906142)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Transcription regulation", "reference": "36229431, 38906142", "complex_components": {}, "pfam_ids": "PF10221", "domain_descriptions": "Cell cycle regulator Mat89Bb", "string_link": "https://string-db.org/network/9606/ENSG00000064102", "synonym": "ASUN, C12ORF11, FLJ10637, MAT89BB, NET48, SPATA30", "ortholog_mouse": "Ints13", "ortholog_c_elegans": "ints-13", "ortholog_xenopus": "ints13", "ortholog_zebrafish": "ints13", "ortholog_drosophila": "asun", "screens": {} }, { "gene": "INTU", "ensembl_id": "ENSG00000164066", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "inturned planar cell polarity protein [Source:HGNC Symbol,Acc:HGNC:29239]", "omim_id": "610621", "functional_summary": "Governs apical actin assembly and thus controls the orientation, but not assembly, of ciliary (16493421, 27158779). Cilia and pla r polarity effector, essential for IFT-A complex assembly during ciliogenesis, forming a molecular module with Fuzzy (FUZ) and WDPCP. INTU functions upstream of Gli2 activation and is required for Smo-mediated Hh pathway activation (28459465). Targeting Intu … resulted in almost complete loss of primary cilia in epidermal and follicular keratinocytes. (22935613) Knockdown of Intu led to the shortening of primary cilia … overexpression of Intu could preserve cilia. (29581513) INTU acts in the CPLANE complex to facilitate ciliogenesis and support cilia signaling. (40968537) INTU performs prominent ciliogenic functions during morphogenesis.(28459465)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "12872123, 15213257, 27158779, 22935613, 29581513, 40968537, 28459465 ,27158779", "complex_components": ["DAAM1", "INTU", "NPHP4"], "pfam_ids": ["PF19031", "PF19032", "PF19033"], "domain_descriptions": ["PDZ domain", "PDZ superfamily", "Protein inturned", "CCZ1/INTU/HSP4", "first Longin domain", "CCZ1/INTU", "second Longin domain", "CCZ1/INTU/HPS4", "third Longin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000164066", "synonym": "CPLANE4, KIAA1284, PDZD6, PDZK6", "ciliopathy": "Orofaciodigital Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Intu", "ortholog_xenopus": "intu", "ortholog_zebrafish": "intu", "ortholog_drosophila": "in", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 10.9, "sd_percent_ciliated": 10.9, "z_score": 10.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1816, "sd_percent_ciliated": -1.1816, "z_score": -1.1816, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "INVS", "ensembl_id": "ENSG00000119509", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "inversin [Source:HGNC Symbol,Acc:HGNC:17870]", "omim_id": "243305", "functional_summary": "Mutations cause infantile nephronophthisis type 2. Role in left-right axis specification (12872123). Forms a stable complex with the cytoskeletal molecule tubulin and may be involved during early microtubule assembly in microtubule-organizing centers (15213257). Ciliation frequency and cilia length were not affected by loss of INVS … (12872123) INVS localizes to the proximal segment / Inv compartment of cilia; mutations cause nephronophthisis (ciliopathy). (36920028) INVS is suggested to cause malfunctioning of primary cilia in NPHP2. (31895004) (27220846)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cilia length regulation", "reference": "27328943, 23446637, 25552655, 12872123, 36920028, 31895004, 27220846 ,12872123", "complex_components": ["ANKS6", "INVS", "NEK8", "NPHP3", "DVL2", "NPHP4", "RPGRIP1L"], "pfam_ids": ["PF12796", "PF00023", "PF00612", "PF13637"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Ankyrin repeat", "Ankyrin repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000119509", "synonym": "NPHP2", "ciliopathy": "Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Invs", "ortholog_c_elegans": "mlt-4", "ortholog_xenopus": "invs", "ortholog_zebrafish": "invs", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.383, "sd_percent_ciliated": 0.4787, "z_score": -0.0759, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.32, "sd_percent_ciliated": 1.32, "z_score": 1.32, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0001, "sd_percent_ciliated": -2.0001, "z_score": -2.0001, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IPMK", "ensembl_id": "ENSG00000151151", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "inositol polyphosphate multikinase [Source:HGNC Symbol,Acc:HGNC:20739]", "omim_id": "609851", "functional_summary": "IPMK has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF03770", "domain_descriptions": ["Inositol polyphosphate kinase", "Inositol polyphosphate kinase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000151151", "ortholog_mouse": "Ipmk", "ortholog_c_elegans": "ipmk-1", "ortholog_xenopus": "ipmk", "ortholog_zebrafish": "ipmka, ipmkb", "ortholog_drosophila": "Ipk2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.1249, "sd_percent_ciliated": 0.5424, "z_score": -0.9552, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.48, "sd_percent_ciliated": 0.48, "z_score": 0.48, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.072, "sd_percent_ciliated": 1.072, "z_score": 1.072, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IPO8", "ensembl_id": "ENSG00000133704", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "importin 8 [Source:HGNC Symbol,Acc:HGNC:9853]", "omim_id": "605600", "functional_summary": "IPO8 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["IPO8", "RAN"], "pfam_ids": ["PF03810", "PF08506"], "domain_descriptions": ["Importin-beta", "N-terminal domain", "Armadillo-like helical", "Exportin-2", "central domain", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000133704", "synonym": "IMP8, RANBP8", "ortholog_mouse": "Ipo8", "ortholog_xenopus": "ipo8", "ortholog_zebrafish": "ipo8", "ortholog_drosophila": "msk", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.0724, "sd_percent_ciliated": 3.9832, "z_score": -0.2347, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.271, "sd_percent_ciliated": 0.271, "z_score": 0.271, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0428, "sd_percent_ciliated": 0.0428, "z_score": 0.0428, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IQCA1", "ensembl_id": "ENSG00000132321", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif containing with AAA domain 1 [Source:HGNC Symbol,Acc:HGNC:26195]", "functional_summary": "Ciliary-motility related proteins, like HYDIN, IQCA1, and CATSPER2 accumulate towards the tip rather than show staining along the whole cilium, which might indicate for HYDIN and IQCA1 that they are not in fact implemented into the axoneme but might just transit the cilium.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,23427265", "complex_components": {}, "pfam_ids": "PF00004", "domain_descriptions": ["ATPase", "AAA-type", "core", "P-loop containing nucleoside triphosphate hydrolase", "Nexin-Dynein Regulatory Complex Component"], "string_link": "https://string-db.org/network/9606/ENSG00000132321", "synonym": "DRC11, FLJ22527, IQCA", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqca1", "ortholog_xenopus": "iqca1", "ortholog_zebrafish": "drc11", "ortholog_drosophila": "CG14183, CG16789", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.222, "sd_percent_ciliated": 0.222, "z_score": 0.222, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "IQCB1", "ensembl_id": "ENSG00000173226", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif containing B1 [Source:HGNC Symbol,Acc:HGNC:28949]", "omim_id": "609237", "functional_summary": "Also known as NPHP5. Required for extension of an axoneme after docking of the basal body to the cell membrane. Absence leads to mislocalization of BBS2, BBS5 and destroys BBSome integrity (27328943). Interacts with CEP290 and is required for early cilia assembly, migration and/or anchoring of centrosomes to the cell cortex (23446637). NPHP5-binding to the BBSome is crucial for BBSome integrity and ciliary trafficking (25552655). NPHP5 knockdown studies in vitro show decreased numbers of primary cilia in hTert-RPE1 cells. (27328943)", "localization": "basal body,cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "24582806, 15723066, 21220633, 20881296, 27328943 ,20881296; 15723066, 21220633", "complex_components": ["CEP290", "IQCB1", "CALM", "RPGR"], "pfam_ids": "PF00612", "domain_descriptions": ["IQ motif", "EF-hand binding site", "Armadillo-type fold", "P-loop containing nucleoside triphosphate hydrolase", "IQ calmodulin-binding motif-containing protein 1"], "string_link": "https://string-db.org/network/9606/ENSG00000173226", "synonym": "KIAA0036, NPHP5, SLSN5", "ciliopathy": "Leber Congenital Amaurosis; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqcb1", "ortholog_xenopus": "iqcb1", "ortholog_zebrafish": "iqcb1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.9397, "sd_percent_ciliated": 5.9085, "z_score": -0.9777 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.44, "sd_percent_ciliated": 6.44, "z_score": 6.44 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.2259, "sd_percent_ciliated": -4.2259, "z_score": -4.2259 } ] }, { "gene": "IQCD", "ensembl_id": "ENSG00000166578", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif containing D [Source:HGNC Symbol,Acc:HGNC:25168]", "functional_summary": "IQCD has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/ ,23427265", "complex_components": {}, "pfam_ids": "PF00612", "domain_descriptions": ["IQ motif", "EF-hand binding site", "Dynein regulatory complex protein 10"], "string_link": "https://string-db.org/network/9606/ENSG00000166578", "synonym": "CFAP84, DRC10", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqcd", "ortholog_xenopus": "iqcd", "ortholog_zebrafish": "drc10", "ortholog_drosophila": "CG1137, CG13168", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.897, "sd_percent_ciliated": 0.897, "z_score": 0.897, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0813, "sd_percent_ciliated": -2.0813, "z_score": -2.0813, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IQCE", "ensembl_id": "ENSG00000106012", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif containing E [Source:HGNC Symbol,Acc:HGNC:29171]", "omim_id": "617631", "functional_summary": "Form a complex with EFCAB7. It anchors the EVC- EVC2 complex to positively regulate the Hh pathway (24582806)", "localization": "flagella, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "24849454 ,31549751", "complex_components": {}, "pfam_ids": "PF00612", "domain_descriptions": ["IQ motif", "EF-hand binding site", "P-loop containing nucleoside triphosphate hydrolase", "Cell Division and Developmental Signaling Domain-Containing Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000106012", "synonym": "KIAA1023", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqce", "ortholog_xenopus": "iqce", "ortholog_zebrafish": "iqce", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 15.2, "sd_percent_ciliated": 15.2, "z_score": 15.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4058, "sd_percent_ciliated": -0.4058, "z_score": -0.4058, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IQCG", "ensembl_id": "ENSG00000114473", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif containing G [Source:HGNC Symbol,Acc:HGNC:25251]", "omim_id": "612477", "functional_summary": "Required for cilogenesis and spermiogenesis in mammals through a dy mic interaction with calmodulin in different intracellular calcium levels (24849454).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "25359884 ,23427265", "complex_components": ["CAMK4", "HSPA1L", "HSPA8", "IQCG"], "pfam_ids": "PF00612", "domain_descriptions": ["IQ motif", "EF-hand binding site", "Dynein regulatory complex protein 9"], "string_link": "https://string-db.org/network/9606/ENSG00000114473", "synonym": "CFAP122, DKFZP434B227, DRC9", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqcg", "ortholog_xenopus": "iqcg", "ortholog_zebrafish": "drc9", "ortholog_drosophila": "CG13972", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.43, "sd_percent_ciliated": 1.43, "z_score": 1.43, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.7568, "sd_percent_ciliated": 0.7568, "z_score": 0.7568, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IQCH", "ensembl_id": "ENSG00000103599", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif containing H [Source:HGNC Symbol,Acc:HGNC:25721]", "omim_id": "612523", "functional_summary": "IQCH spatial distributed around the sperm axoneme, supporting its function within flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "37520705 ,21289087 *", "complex_components": {}, "pfam_ids": "PF24923", "domain_descriptions": ["IQ domain-containing protein H", "IQCH-like", "ATP-grasp"], "string_link": "https://string-db.org/network/9606/ENSG00000103599", "synonym": "FLJ12476", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqch", "ortholog_xenopus": "iqch", "ortholog_zebrafish": "iqch", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.41, "sd_percent_ciliated": 2.41, "z_score": 2.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5378, "sd_percent_ciliated": 1.5378, "z_score": 1.5378, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IQUB", "ensembl_id": "ENSG00000164675", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IQ motif and ubiquitin domain containing [Source:HGNC Symbol,Acc:HGNC:21995]", "omim_id": "620557", "functional_summary": "The IQUB deficiency caused significant down-regulation of the inner dynein arms of D H7 and D H12, highlighting their nearby location with RS1 (39849482).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "39849482 ,21289087", "complex_components": ["CFAP298", "DNAAF11", "DNAAF4", "HSPA8", "IQUB", "RUVBL2", "ZMYND10"], "pfam_ids": "PF00240", "domain_descriptions": ["Ubiquitin-like domain", "Ubiquitin-like domain superfamily", "IQ motif and ubiquitin-like domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000164675", "synonym": "FLJ35834", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Iqub", "ortholog_xenopus": "iqub", "ortholog_zebrafish": "iqub", "ortholog_drosophila": "CG13855", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.05, "sd_percent_ciliated": 1.05, "z_score": 1.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.8995, "sd_percent_ciliated": 1.8995, "z_score": 1.8995, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "IRS1", "ensembl_id": "ENSG00000169047", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "insulin receptor substrate 1 [Source:HGNC Symbol,Acc:HGNC:6125]", "omim_id": "147545", "functional_summary": "IRS-1 is a docking protein that interacts with intracellular downstream sig lling molecules involved in IGF-1 receptor sig lling, interacts with Akt-1 at the transition neck region marked by Hsp90伪 (25359884).", "localization": "transition zone, basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "22654112, 25100726", "complex_components": ["INSR", "IRS1", "PIK3R1"], "pfam_ids": ["PF02174", "PF00169"], "domain_descriptions": ["Pleckstrin homology domain", "IRS-type PTB domain", "PH-like domain superfamily", "Insulin receptor substrate"], "string_link": "https://string-db.org/network/9606/ENSG00000169047", "synonym": "HIRS-1", "ortholog_mouse": "Irs1", "ortholog_xenopus": "irs1", "ortholog_zebrafish": "irs1", "ortholog_drosophila": "chico", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.1501, "sd_percent_ciliated": 11.0682, "z_score": -1.3157, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 11.6, "sd_percent_ciliated": 11.6, "z_score": 11.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3863, "sd_percent_ciliated": -2.3863, "z_score": -2.3863, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ISX", "ensembl_id": "ENSG00000175329", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "intestine specific homeobox [Source:HGNC Symbol,Acc:HGNC:28084]", "omim_id": "612019", "functional_summary": "ISX-like knockdown did not simply prevent the formation of the apical tuft cilia, but rather led to a loss of the apical tuft cell identity, i.e. the expression of the larva-specific ring neuron markers NVE8226 and NVE14902, as well as the expression of the upstream aboral regulator Six3/6, expanded into the spot domain ( 36000354).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "3.6000354E7", "complex_components": {}, "pfam_ids": "PF00046", "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Homeobox", "conserved site", "Paired Homeobox Transcription Factors"], "string_link": "https://string-db.org/network/9606/ENSG00000175329", "synonym": "RAXLX", "ortholog_mouse": "Isx", "ortholog_drosophila": "eyg, toe", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.152, "sd_percent_ciliated": 0.152, "z_score": 0.152, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8811, "sd_percent_ciliated": -2.8811, "z_score": -2.8811, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ITCH", "ensembl_id": "ENSG00000078747", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "itchy E3 ubiquitin protein ligase [Source:HGNC Symbol,Acc:HGNC:13890]", "omim_id": "606409", "functional_summary": "ITCH plays a key regulatory role in cilium-based Hedgehog sig ling by controlling the degradation and trafficking of PTCH1, a cilia-localized receptor ( 25092867).", "localization": "Ciliary associated gene, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.5092867E7", "complex_components": ["ITCH", "USP9X", "CPSF6", "NUDT21", "POLR2A", "UBAP2L", "EWSR1", "DTX3L", "MAVS", "PCBP2", "MAP3K7", "NDFIP1", "UBE2L3", "CYLD"], "pfam_ids": ["PF00397", "PF00168", "PF00632"], "domain_descriptions": ["C2 domain", "HECT domain", "WW domain", "E3 ubiquitin-protein ligase", "SMURF1 type", "C2 domain superfamily", "HECT", "E3 ligase catalytic domain", "WW domain superfamily", "E3 ubiquitin-protein ligase"], "string_link": "https://string-db.org/network/9606/ENSG00000078747", "synonym": "AIP4", "ortholog_mouse": "Itch", "ortholog_c_elegans": "wwp-1", "ortholog_xenopus": "itch", "ortholog_zebrafish": "itcha, itchb", "ortholog_drosophila": "Su(dx)", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.1889, "sd_percent_ciliated": 0.3067, "z_score": -1.1898 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.6, "sd_percent_ciliated": 11.6, "z_score": 11.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.6049, "sd_percent_ciliated": -4.6049, "z_score": -4.6049 } ] }, { "gene": "ITGA8", "ensembl_id": "ENSG00000077943", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "integrin subunit alpha 8 [Source:HGNC Symbol;Acc:HGNC:6144]", "omim_id": "604063", "functional_summary": "Pcdh15a and Itga8 are apically localized in zebrafish hair cells, including kinocilia, where they colocalize at ciliary tips and are required for proper ciliogenesis and kinociliary morphology. Loss of either protein leads to shortened or abnormal kinocilia and mislocalization of both proteins, highlighting their interdependent roles at the ciliary compartment(PMID: 28883094).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.8883094E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000077943", "ortholog_mouse": "Itga8", "ortholog_c_elegans": "pat-2", "ortholog_xenopus": "itga8", "ortholog_zebrafish": "itga8", "ortholog_drosophila": "if", "screens": [] }, { "gene": "ITGB1", "ensembl_id": "ENSG00000150093", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "integrin subunit beta 1 [Source:HGNC Symbol,Acc:HGNC:6153]", "omim_id": "135630", "functional_summary": "Integrin-β1 is required for the re l cystogenesis caused by ciliary defects and integrin-β1-controlled pathways as common drivers of the disease and as possible targets to interfere with the cystogenesis caused by ciliary defects ( 32308017).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "3.2308017E7", "complex_components": ["FN1", "ITGA5", "ITGB1", "TGM2", "ADAM15", "SFRP2", "SLC3A2", "SLC7A8", "CD151", "ITGA7", "CD9", "NMRK2", "BSG", "ITGA3", "CD63", "THBS1", "ITGA6", "PKD1", "RAP1A", "EMILIN1", "ITGA4", "CD81", "CD53", "VCAM1", "JAM2", "CD47", "THBS2", "ITGA2", "CHAD", "COL6A3", "ITGA1", "PTPN2", "ITGAV", "CCN1", "ITGA8", "ADAM9", "ITGA9", "Adam2", "TNC", "VEGFD", "ADAM12", "CCN3", "COL18A1", "SPP1", "Adam1a", "Adam3", "VEGFC", "VEGFA", "ADAM8", "ITGA10", "ITGA11", "COL1A1", "NRP1", "CSPG4", "LGALS3", "RACK1", "CD38", "TACSTD2", "TLN1", "FLT1", "KCNH2", "FLT4", "SRC", "FLT3", "PTK2B"], "pfam_ids": ["PF18372", "PF07965", "PF17205", "PF00362", "PF08725", "PF23105", "PF07974"], "domain_descriptions": ["Integrin beta subunit", "VWA domain", "Integrin beta subunit", "tail", "EGF-like domain", "extracellular", "Integrin beta subunit", "cytoplasmic domain", "Integrin beta subunit", "PSI domain", "Integrin domain superfamily", "Integrin beta N-terminal", "Integrin beta tail domain superfamily", "von Willebrand factor A-like domain superfamily", "Integrin beta", "epidermal growth factor-like domain 1", "Integrin beta-2 superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000150093", "synonym": "CD29, FNRB, GPIIA, MDF2, MSK12", "ortholog_mouse": "Itgb1", "ortholog_c_elegans": "pat-3", "ortholog_xenopus": "itgb1", "ortholog_zebrafish": "itgb1a, itgb1b", "ortholog_drosophila": "mys", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.5565, "z_score": -1.2625, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 27.0001, "z_score": -1.3338, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.6213 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 14.5, "z_score": 14.5, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 14.5 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.458, "z_score": -1.458, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.458 } ] }, { "gene": "ITGB6", "ensembl_id": "ENSG00000115221", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "integrin subunit beta 6 [Source:HGNC Symbol,Acc:HGNC:6161]", "omim_id": "147558", "functional_summary": "ITGB6 localized to flagella (25613900)", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": ["FN1", "FYN", "ITGB6", "ITGAV", "SPP1", "TGFB3"], "pfam_ids": ["PF18372", "PF23105", "PF00362", "PF07974", "PF07965", "PF08725", "PF17205"], "domain_descriptions": ["Integrin beta subunit", "VWA domain", "Integrin beta subunit", "tail", "EGF-like domain", "extracellular", "Integrin beta subunit", "cytoplasmic domain", "Integrin beta subunit", "Integrin domain superfamily", "Integrin beta tail domain superfamily", "von Willebrand factor A-like domain superfamily", "Integrin beta", "epidermal growth factor-like domain 1", "PSI domain", "Integrin beta N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000115221", "ortholog_mouse": "Itgb6", "ortholog_c_elegans": "pat-3", "ortholog_xenopus": "itgb6", "ortholog_zebrafish": "itgb6", "ortholog_drosophila": "mys", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 56.1338, "sd_percent_ciliated": 3.1544, "z_score": 2.1959 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -13.2839, "sd_percent_ciliated": -13.2839, "z_score": -13.2839 } ] }, { "gene": "ITLN1", "ensembl_id": "ENSG00000179914", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "intelectin 1 [Source:HGNC Symbol,Acc:HGNC:18259]", "omim_id": "609873", "functional_summary": "ITLN1 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000179914", "synonym": "FLJ20022, HINTL, HL-1, ITLN, LFR", "ortholog_mouse": "Itln1, Itlnb", "ortholog_xenopus": "cgl.2, itln1, itln1al, itln2, LOC100127565, LOC100127857, LOC100485079", "ortholog_zebrafish": "itln1, itln2, itln3, itln4, si:ch211-194p6.12, zgc:153219", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.1992, "sd_percent_ciliated": 0.7186, "z_score": -0.8251, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.33, "sd_percent_ciliated": 4.33, "z_score": 4.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3604, "sd_percent_ciliated": -4.3604, "z_score": -4.3604, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ITPR1", "ensembl_id": "ENSG00000150995", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol,Acc:HGNC:6180]", "omim_id": "147265", "functional_summary": "Mutations in the ITPR1 gene cause Spinocerebellar Ataxia (PMID: 22986007, PMID:17590087).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "22986007, 17590087", "complex_components": ["GNA11", "ITPR1", "ITPR3", "PLCB1", "PLCB2", "PLCB3", "STX3", "TRPC3", "TRPC6", "RHOA", "TRPC1", "IRAG1", "PRKG1", "ACTA2", "CNN1", "PLN", "PDE5A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000150995", "synonym": "ACV, INSP3R1, IP3R1, PPP1R94, SCA15, SCA16, SCA29", "ortholog_mouse": "Itpr1", "ortholog_c_elegans": "itr-1", "ortholog_xenopus": "itpr1", "ortholog_zebrafish": "itpr1a, itpr1b", "ortholog_drosophila": "Itpr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.1038, "sd_percent_ciliated": 2.232, "z_score": 0.9807, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.52, "sd_percent_ciliated": 1.52, "z_score": 1.52, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3057, "sd_percent_ciliated": -1.3057, "z_score": -1.3057, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ITPR2", "ensembl_id": "ENSG00000123104", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol,Acc:HGNC:6181]", "omim_id": "600144", "functional_summary": "ITPR2 has localized in flagella.", "localization": "flagella", "functional_category": "Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00520", "PF08454", "PF02815", "PF01365", "PF08709"], "domain_descriptions": ["Inositol 1", "4", "5-trisphosphate receptor", "RIH domain", "Ion transport domain", "RyR/IP3R Homology associated domain", "Inositol 1", "4", "5-trisphosphate/ryanodine receptor", "Ryanodine/Inositol 1", "4", "5-trisphosphate receptor", "Armadillo-type fold", "MIR motif", "RyR/IP3 receptor binding core", "RIH domain superfamily", "Mir domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000123104", "synonym": "CFAP48, IP3R2", "ortholog_mouse": "Itpr2", "ortholog_c_elegans": "itr-1", "ortholog_xenopus": "itpr2", "ortholog_zebrafish": "itpr2", "ortholog_drosophila": "Itpr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.2864, "sd_percent_ciliated": 1.4296, "z_score": 1.0028 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.335, "sd_percent_ciliated": 0.335, "z_score": 0.335 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.525, "sd_percent_ciliated": -2.525, "z_score": -2.525 } ] }, { "gene": "IZUMO2", "ensembl_id": "ENSG00000161652", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IZUMO family member 2 [Source:HGNC Symbol,Acc:HGNC:28518]", "omim_id": "618895", "functional_summary": "IZUMO2 localized to mid piece, flagella (25613900).", "localization": "flagella, Lysosomes", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF15005", "domain_descriptions": ["Izumo sperm-egg fusion protein", "Izumo sperm-egg fusion protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000161652", "synonym": "C19ORF41, MGC33947, SCRL", "ortholog_mouse": "Izumo2", "ortholog_xenopus": "LOC116412291, LOC116412447", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.206, "sd_percent_ciliated": 0.206, "z_score": 0.206, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "IZUMO4", "ensembl_id": "ENSG00000099840", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "IZUMO family member 4 [Source:HGNC Symbol,Acc:HGNC:26950]", "omim_id": "618897", "functional_summary": "IZUMO4 localized to connecting piece, flagella (25613900).", "localization": "flagella, Nucleus, Lysosomes", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF15005", "domain_descriptions": ["Izumo sperm-egg fusion protein", "Izumo sperm-egg fusion"], "string_link": "https://string-db.org/network/9606/ENSG00000099840", "synonym": "C19ORF36", "ortholog_mouse": "Izumo4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.36, "sd_percent_ciliated": 1.36, "z_score": 1.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4135, "sd_percent_ciliated": -3.4135, "z_score": -3.4135, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "JADE1", "ensembl_id": "ENSG00000077684", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "jade family PHD finger 1 [Source:HGNC Symbol,Acc:HGNC:30027]", "omim_id": "610514", "functional_summary": "Ubiquitin ligase targeting 尾- catenin for proteasomal degradation. Component of the NPHP protein complex, interacting with NPHP4 which facilitates JADE-1 nuclear traslocation, leading to decreased canonical Wnt sig ling (22654112, 25100726).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.9661797E7", "complex_components": ["ING4", "JADE1", "KAT7", "MEAF6", "ING5", "NPHP4"], "pfam_ids": ["PF10513", "PF13831", "PF13832", "PF13771"], "domain_descriptions": ["Zinc finger", "PHD-type", "Zinc finger", "FYVE/PHD-type", "Zinc finger", "RING/FYVE/PHD-type", "Enhancer of polycomb-like", "N-terminal", "Zinc finger", "PHD-type", "conserved site", "Zinc finger", "PHD-finger", "Extended PHD (ePHD) domain", "Histone Modification Regulator", "Jade-1", "PHD finger"], "string_link": "https://string-db.org/network/9606/ENSG00000077684", "synonym": "JADE-1, PHF17", "ortholog_mouse": "Jade1", "ortholog_c_elegans": "phf-15", "ortholog_xenopus": "jade1", "ortholog_zebrafish": "jade1", "ortholog_drosophila": "rno", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.229, "sd_percent_ciliated": 0.229, "z_score": 0.229, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "JAG1", "ensembl_id": "ENSG00000101384", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "jagged canonical Notch ligand 1 [Source:HGNC Symbol,Acc:HGNC:6188]", "omim_id": "601920", "functional_summary": "In the lung, Apc deletion induced β-catenin accumulation and Jag1 expression in ciliated cells and by lateral induction, triggered Notch sig ling in adjacent Clara cells. In the bronchiolar epithelium, absence of Apc blocked the differentiation of a subpopulation of cells committed to the ciliogenesis program. In the human pulmo ry adenocarcinoma cells, Apc over-expression inhibited Jag1 expression and promoted motile ciliogenic gene expression program including Foxj1, revealing the potential mechanism( 23646120). JAG1 over-expression in basal cells increased secretory cell differentiation, with no effect on ciliated cell differentiation. (27216293) However, neutralization of JAG1 or JAG2 also decreased ciliated cell frequency (Figure 2D). (35819850)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "23646120, 27216293, 35819850", "complex_components": {}, "pfam_ids": ["PF00008", "PF23575", "PF01414", "PF12661", "PF07657", "PF25024", "PF21700", "PF07974", "PF07645"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "EGF-like domain", "VWFC domain", "Delta/Serrate/lag-2 (DSL) protein", "EGF-like calcium-binding domain", "Growth factor receptor cysteine-rich domain superfamily", "Notch ligand", "N-terminal domain", "EGF-like", "conserved site", "EGF-like calcium-binding", "conserved site", "Jagged/Serrate protein", "Protein jagged-1/2", "predicted ferredoxin-like domain", "EGF-like domain", "extracellular", "Notch Signaling and Cell Fate Determination", "Notch and Slit guidance protein", "NOTCH1 EGF-like calcium-binding domain", "Neurogenic locus notch homolog"], "string_link": "https://string-db.org/network/9606/ENSG00000101384", "synonym": "AGS, AHD, AWS, CD339, HJ1, JAGL1", "ortholog_mouse": "Jag1", "ortholog_xenopus": "jag1", "ortholog_zebrafish": "jag1a, jag1b", "ortholog_drosophila": "Ser", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.0684, "sd_percent_ciliated": 2.2332, "z_score": 0.613, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.105, "sd_percent_ciliated": 0.105, "z_score": 0.105, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1815, "sd_percent_ciliated": -2.1815, "z_score": -2.1815, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "JAZF1", "ensembl_id": "ENSG00000153814", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "JAZF zinc finger 1 [Source:HGNC Symbol,Acc:HGNC:28917]", "omim_id": "606246", "functional_summary": "Regulator of multiciliated cell differentiation. It may function upstream of Foxj1 expression (29661797). Jazf1 knockdown inhibits ciliated cell differentiation in airway epithelium. JAZF1 was enriched in adult ciliated cells, and knockdown of Jazf1 inhibited ciliated cell differentiation in mouse airway epithelium. (29661797)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "29211732, 29661797", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000153814", "synonym": "DKFZP761K2222, TIP27, ZNF802", "ortholog_mouse": "Jazf1", "ortholog_xenopus": "jazf1", "ortholog_zebrafish": "jazf1a, jazf1b", "ortholog_drosophila": "CG12054", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.449, "sd_percent_ciliated": 0.449, "z_score": 0.449, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5547, "sd_percent_ciliated": 0.5547, "z_score": 0.5547, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "JHY", "ensembl_id": "ENSG00000109944", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "junctional cadherin complex regulator [Source:HGNC Symbol,Acc:HGNC:26288]", "omim_id": "617594", "functional_summary": "Required for ciliogenesis and proper differentiation of radial glia to functio l ependymal cells. Mutations cause congenital hydrocephalus and loss of JHY results in the lack of the ciliary microtubule central pair ( 29211732).Homozygous Jhy lacZ/lacZ mice develop fewer and shorter ependymal cilia, and these cilia show loss of the central pair of microtubules. Cilia of Jhy lacZ/lacZ mice have severely reduced motility, a potential cause for the development of hydrocephalus.(29211732) Ependymal cilia lining the lateral ventricles are morphologically abnormal and reduced in number. (UniProt)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "28373692, 22654668, 29211732, UniProt", "complex_components": {}, "pfam_ids": "PF15261", "domain_descriptions": "Jhy protein", "string_link": "https://string-db.org/network/9606/ENSG00000109944", "synonym": "C11ORF63, FLJ23554", "ortholog_mouse": "Jhy", "ortholog_xenopus": "jhy", "ortholog_zebrafish": "jhy", "screens": {} }, { "gene": "KATNA1", "ensembl_id": "ENSG00000186625", "overexpression_effects": "Not Reported", "lof_effects": "Loss of cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "katanin catalytic subunit A1 [Source:HGNC Symbol,Acc:HGNC:6216]", "omim_id": "606696", "functional_summary": "Katanin p60 displayed multiciliary localizations in mEPCs, abundant at the tip of short cilia (34608154). KATNA1 localizes to the base of the primary cilium, and its overexpression induces both rapid and gradual loss of cilia. (34414183) KATNA1 and KATNAL1 … drive rapid MT-remodelling events required in ciliogenesis. (37882691)", "localization": "cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "34608154, 34414183, 37882691", "complex_components": ["KATNA1", "KATNAL1", "KATNB1", "KATNBL1"], "pfam_ids": ["PF17862", "PF21126", "PF00004", "PF09336"], "domain_descriptions": ["AAA+ ATPase domain", "ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "Spastin/Vps4", "C-terminal", "P-loop containing nucleoside triphosphate hydrolase", "Katanin p60 subunit A1", "AAA ATPase", "AAA+ lid domain", "Katanin p60 ATPase-containing subunit A1", "MIT domain", "Katanin p60 ATPase-containing subunit A1", "AAA domain", "Microtubule-severing AAA ATPase"], "string_link": "https://string-db.org/network/9606/ENSG00000186625", "ortholog_mouse": "Katna1", "ortholog_c_elegans": "mei-1", "ortholog_xenopus": "katna1", "ortholog_zebrafish": "katna1", "ortholog_drosophila": "kat-60L1, Kat60", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.7597, "sd_percent_ciliated": 4.506, "z_score": 0.5755, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.97, "sd_percent_ciliated": 1.97, "z_score": 1.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5588, "sd_percent_ciliated": 0.5588, "z_score": 0.5588, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KATNAL1", "ensembl_id": "ENSG00000102781", "overexpression_effects": "Not Reported", "lof_effects": "Structural abnormalities", "percent_ciliated_cells_effects": "Not Reported", "description": "katanin catalytic subunit A1 like 1 [Source:HGNC Symbol,Acc:HGNC:28361]", "omim_id": "614764", "functional_summary": "Role in neuro l migration, neuro l morphology and ependymal ciliary function (28373692). Regulates microtubule dy mics in Sertoli cells, a process that is essential for spermiogenesis and male fertility (22654668) Furthermore we demonstrate defects in the motile cilia of the ventricular ependymal cells of mutants, suggesting a role for Katnal1 in the development of ciliary function. We found that the ciliary beat frequency (CBF) of Katnal1¹ᴴ/¹ᴴ animals was significantly attenuated compared to wild-type (CBF: wildtype = 22.39 ± 0.94 Hz, Katnal1¹ᴴ/¹ᴴ = 14.25 ± 0.92 Hz, P = 0.0001). Cilia measurements showed no significant differences in average cilia length between genotypes (average cilia length: wild type = 6.22 ± 0.86 µm, Katnal1¹ᴴ/¹ᴴ = 6.54 ± 0.94 µm, P = 0.303). However in Katnal1¹ᴴ/¹ᴴ samples we noted the presence of both long and short cilia … ciliary abnormalities including bifurcated cilia, abnormal kinks & bends, and swellings along the length of the cilia. (28373692)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Reproduction & sperm, Cilia length regulation", "reference": "30096282, 26153462, 28373692 ,28373692", "complex_components": ["KATNA1", "KATNAL1", "KATNB1", "KATNBL1"], "pfam_ids": ["PF17862", "PF00004", "PF21126", "PF09336"], "domain_descriptions": ["AAA+ ATPase domain", "ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "Spastin/Vps4", "C-terminal", "P-loop containing nucleoside triphosphate hydrolase", "Katanin p60 subunit A-like 1", "chordates", "Katanin p60 subunit A1", "AAA ATPase", "AAA+ lid domain", "Katanin p60 ATPase-containing subunit A1", "MIT domain", "Katanin p60 ATPase-containing subunit A1", "AAA domain", "Microtubule-severing AAA ATPase"], "string_link": "https://string-db.org/network/9606/ENSG00000102781", "synonym": "MGC2599", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Katnal1", "ortholog_c_elegans": "mei-1", "ortholog_xenopus": "katnal1", "ortholog_zebrafish": "katnal1", "ortholog_drosophila": "kat-60L1, Kat60", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.256, "sd_percent_ciliated": 9.8911, "z_score": 1.3626 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4837, "sd_percent_ciliated": 1.4837, "z_score": 1.4837 } ] }, { "gene": "KATNAL2", "ensembl_id": "ENSG00000167216", "overexpression_effects": "Not Reported", "lof_effects": "Increased cilia length", "percent_ciliated_cells_effects": "Not Reported", "description": "katanin catalytic subunit A1 like 2 [Source:HGNC Symbol,Acc:HGNC:25387]", "omim_id": "614697", "functional_summary": "Required for dy mic regulation of during axoneme formation and mainte nce, it may have the ability to remodel at different cellular locations. Role during the regulation of Wnt/pla r cell polarity (PCP)-dependent processes. Required for ciliogenesis, organogenesis and brain size control (30096282). Interacts with Nubp1 and Nubp2 AAA proteins, which act as negative regulators of ciliogenesis (26153462). Loss of Katnal2 leads to ependymal ciliary hyperfunction … increased length and beating frequency of motile cilia on ependymal cells (38718086) Katnal2 deletion causes impairments in microtubule-severing enzyme function resulting in primary cilia with increased length in embryonic RGCs. (39008680)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology", "reference": "26546361, 38718086, 39008680 ,30096282", "complex_components": {}, "pfam_ids": ["PF00004", "PF08513", "PF17862"], "domain_descriptions": ["ATPase", "AAA-type", "core", "P-loop containing nucleoside triphosphate hydrolase", "Microtubule-severing AAA ATPase", "LIS1 homology motif", "AAA+ ATPase domain", "Katanin p60 ATPase-containing subunit A-like 2", "AAA ATPase", "AAA+ lid domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167216", "synonym": "DKFZP667C165, MGC33211", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Katnal2", "ortholog_xenopus": "katnal2", "ortholog_zebrafish": "katnal2", "ortholog_drosophila": "CG10793", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.5244, "sd_percent_ciliated": 4.5986, "z_score": -0.9068, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.028, "sd_percent_ciliated": 0.028, "z_score": 0.028, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KATNB1", "ensembl_id": "ENSG00000140854", "overexpression_effects": "Not Reported", "lof_effects": "Reduced cilia number", "percent_ciliated_cells_effects": "Not Reported", "description": "katanin regulatory subunit B1 [Source:HGNC Symbol,Acc:HGNC:6217]", "omim_id": "602703", "functional_summary": "katanin p80 is not only involved in the formation of manchette and sperm head shape, but also in the correct formation of the flagellum as katanin p80 is also localized in the distal region of step III round spermatids (27717557). KATNB1 regulates overall centriole, mother centriole, and cilia number. (25521379) Katnb1 knockout in mice leads to … affecting centriole and cilia biogenesis during development. (25521378) KATNB1 is the p80 regulatory subunit that directs katanin activity and is necessary for normal cilia formation. ( 34822718)", "localization": "flagella, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "27717557, 25521379, 25521378, 34822718", "complex_components": ["KATNA1", "KATNAL1", "KATNB1", "KATNBL1"], "pfam_ids": ["PF00400", "PF13925"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "Katanin p80 WD40 repeat-containing subunit B1", "Katanin p80 subunit", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000140854", "ortholog_mouse": "Katnb1", "ortholog_c_elegans": "F47G4.4, F47G4.5", "ortholog_xenopus": "katnb1", "ortholog_zebrafish": "katnb1", "ortholog_drosophila": "kat80", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4664, "sd_percent_ciliated": 6.7205, "z_score": -0.9139 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 25.6, "sd_percent_ciliated": 25.6, "z_score": 25.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0639, "sd_percent_ciliated": -0.0639, "z_score": -0.0639 } ] }, { "gene": "KATNIP", "ensembl_id": "ENSG00000047578", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Reduced", "description": "katanin interacting protein [Source:HGNC Symbol,Acc:HGNC:29068]", "omim_id": "616650", "functional_summary": "Binds to and stabilise microtubule networks when overexpressed, it interacts with intraflagellar transport components and katanins associated with severing. Form a complex that regulates microtubule dy mics as well as ciliary functions. Negative regulator of ciliary length. Mutated in Joubert syndrome (27245168, 26714646). KATNIP binding with CILK1 … resulted in a profound increase in phosphorylation of known CILK1 substrates and suppression of cilia length. (37665596) In a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with mutation display a reduced number of ciliated cells with abnormally long cilia. (GeneCards)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cilia length regulation", "reference": "1914472, 24421332, 26096313, 31816441, 32080096, 26714646, 37665596, GeneCards ,26714646", "complex_components": {}, "pfam_ids": "PF14652", "domain_descriptions": ["Katanin-interacting protein", "KATNIP domain"], "string_link": "https://string-db.org/network/9606/ENSG00000047578", "synonym": "JBTS26, KIAA0556", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Katnip", "ortholog_c_elegans": "K04F10.2", "ortholog_xenopus": "katnip", "screens": {} }, { "gene": "KCNC1", "ensembl_id": "ENSG00000129159", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium voltage-gated channel subfamily C member 1 [Source:HGNC Symbol,Acc:HGNC:6233]", "omim_id": "176258", "functional_summary": "KCNC family members (KCNC1, KCNC2, KCNC3, KCNC4) may be involved in ciliated neuro l compartments, based on strong homology and functio l parallels with C. elegans EGL-36, which localizes to the periciliary region of ciliated sensory neurons (33688626).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3688626E7", "complex_components": ["KCNC1", "KCNH1"], "pfam_ids": ["PF00520", "PF02214"], "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "Potassium channel", "voltage dependent", "Kv", "Potassium channel", "voltage dependent", "Kv3", "Potassium channel", "voltage dependent", "Kv3.1", "Ion transport domain", "SKP1/BTB/POZ domain superfamily", "Voltage-dependent channel domain superfamily", "Voltage-gated potassium channel"], "string_link": "https://string-db.org/network/9606/ENSG00000129159", "synonym": "KV3.1", "ortholog_mouse": "Kcnc1", "ortholog_c_elegans": "egl-36, shw-1, shw-3", "ortholog_xenopus": "kcnc1", "ortholog_zebrafish": "kcnc1a, kcnc1b", "ortholog_drosophila": "Shaw, Shawl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.1761, "sd_percent_ciliated": 2.7639, "z_score": -0.1009 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.564, "sd_percent_ciliated": 0.564, "z_score": 0.564 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1919, "sd_percent_ciliated": -2.1919, "z_score": -2.1919 } ] }, { "gene": "KCNC2", "ensembl_id": "ENSG00000166006", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium voltage-gated channel subfamily C member 2 [Source:HGNC Symbol,Acc:HGNC:6234]", "omim_id": "176256", "functional_summary": "KCNC family members (KCNC1, KCNC2, KCNC3, KCNC4) may be involved in ciliated neuro l compartments, based on strong homology and functio l parallels with C. elegans EGL-36, which localizes to the periciliary region of ciliated sensory neurons (33688626).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3688626E7", "complex_components": {}, "pfam_ids": ["PF00520", "PF02214"], "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "Potassium channel", "voltage dependent", "Kv", "Potassium channel", "voltage dependent", "Kv3", "Ion transport domain", "SKP1/BTB/POZ domain superfamily", "Voltage-dependent channel domain superfamily", "Voltage-gated potassium channel"], "string_link": "https://string-db.org/network/9606/ENSG00000166006", "synonym": "KV3.2", "ortholog_mouse": "Kcnc2", "ortholog_c_elegans": "egl-36, shw-1, shw-3", "ortholog_xenopus": "kcnc2", "ortholog_zebrafish": "kcnc2", "ortholog_drosophila": "Shaw, Shawl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.8367, "sd_percent_ciliated": 7.9369, "z_score": 0.4637, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.21, "sd_percent_ciliated": 2.21, "z_score": 2.21, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9135, "sd_percent_ciliated": 1.9135, "z_score": 1.9135, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KCNC3", "ensembl_id": "ENSG00000131398", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium voltage-gated channel subfamily C member 3 [Source:HGNC Symbol,Acc:HGNC:6235]", "omim_id": "176264", "functional_summary": "KCNC family members (KCNC1, KCNC2, KCNC3, KCNC4) may be involved in ciliated neuro l compartments, based on strong homology and functio l parallels with C. elegans EGL-36, which localizes to the periciliary region of ciliated sensory neurons (33688626).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "33688626, 16501573", "complex_components": ["KCNC3", "KCNG3"], "pfam_ids": ["PF02214", "PF00520"], "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "Potassium channel", "voltage dependent", "Kv", "Potassium channel", "voltage dependent", "Kv3", "Potassium channel", "voltage dependent", "Kv3.3", "Ion transport domain", "SKP1/BTB/POZ domain superfamily", "Voltage-dependent channel domain superfamily", "Voltage-gated potassium channel"], "string_link": "https://string-db.org/network/9606/ENSG00000131398", "synonym": "KV3.3, SCA13", "ortholog_mouse": "Kcnc3", "ortholog_c_elegans": "shw-1", "ortholog_xenopus": "LOC100497714", "ortholog_zebrafish": "kcnc3a, kcnc3b", "ortholog_drosophila": "Shaw", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.9902, "sd_percent_ciliated": 1.0973, "z_score": 0.1188 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.8056, "sd_percent_ciliated": -7.8056, "z_score": -7.8056 } ] }, { "gene": "KCNC4", "ensembl_id": "ENSG00000116396", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium voltage-gated channel subfamily C member 4 [Source:HGNC Symbol,Acc:HGNC:6236]", "omim_id": "176265", "functional_summary": "KCNC family members (KCNC1, KCNC2, KCNC3, KCNC4) may be involved in ciliated neuro l compartments, based on strong homology and functio l parallels with C. elegans EGL-36, which localizes to the periciliary region of ciliated sensory neurons (33688626).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3688626E7", "complex_components": {}, "pfam_ids": ["PF02214", "PF11601", "PF00520"], "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "Potassium channel", "voltage dependent", "Kv", "Potassium channel", "voltage dependent", "Kv3", "Potassium channel", "voltage dependent", "Kv3.4", "Ion transport domain", "SKP1/BTB/POZ domain superfamily", "Shal-type voltage-gated potassium channels", "N-terminal", "Voltage-dependent channel domain superfamily", "Voltage-gated potassium channel"], "string_link": "https://string-db.org/network/9606/ENSG00000116396", "synonym": "C1ORF30, HKSHIIIC, KV3.4", "ortholog_mouse": "Kcnc4", "ortholog_c_elegans": "egl-36, shw-1, shw-3", "ortholog_xenopus": "kcnc4", "ortholog_zebrafish": "kcnc4", "ortholog_drosophila": "Shaw, Shawl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.109, "sd_percent_ciliated": 7.0307, "z_score": -0.4725, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.501, "sd_percent_ciliated": 0.501, "z_score": 0.501, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.942, "sd_percent_ciliated": -1.942, "z_score": -1.942, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KCND3", "ensembl_id": "ENSG00000171385", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium voltage-gated channel subfamily D member 3 [Source:HGNC Symbol,Acc:HGNC:6239]", "omim_id": "605411", "functional_summary": "Mutations in the KCND3 gene cause Spinocerebellar Ataxia (PMID: 23280838).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.3280838E7", "complex_components": ["KCND3", "KCNIP4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000171385", "synonym": "KSHIVB, KV4.3, SCA19, SCA22", "ortholog_mouse": "Kcnd3", "ortholog_c_elegans": "shl-1", "ortholog_xenopus": "kcnd3", "ortholog_zebrafish": "kcnd3", "ortholog_drosophila": "Shal", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.874, "z_score": -1.6739, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 14.2679, "z_score": -2.8764, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.7408 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.196, "z_score": 0.196, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.196 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9537, "z_score": -4.9537, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.9537 } ] }, { "gene": "KCNF1", "ensembl_id": "ENSG00000162975", "overexpression_effects": "Not Reported", "lof_effects": "Knocdown impairs ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium voltage-gated channel modifier subfamily F member 1 [Source:HGNC Symbol,Acc:HGNC:6246]", "omim_id": "603787", "functional_summary": "Ion channel gene that exhibits a significant negative effect on ciliogenesis but not on cell number. Potential new candidate in human ciliopathies (26546361). To validate the effect of knockdowns of … Kcnf1 … on ciliogenesis we repeated the siRNA knockdowns in mIMCD3 cells. (26546361) KCNF1 localizes to primary cilia and regulates ciliogenesis. (26546361)", "localization": "cilia, transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "28370099, 27113750, 26546361", "complex_components": ["KCNF1", "KCNG3", "KCNH1", "KCNV2"], "pfam_ids": ["PF02214", "PF00520"], "domain_descriptions": ["Potassium channel tetramerisation-type BTB domain", "Potassium channel", "voltage dependent", "Kv", "Potassium channel", "voltage dependent", "Kv5/Kv9", "Ion transport domain", "SKP1/BTB/POZ domain superfamily", "Voltage-dependent channel domain superfamily", "Voltage-gated potassium channel", "Potassium voltage-gated channel subfamily F member 1-like", "BTB/POZ domain"], "string_link": "https://string-db.org/network/9606/ENSG00000162975", "synonym": "IK8, KCNF, KH1, KV5.1", "ortholog_mouse": "Kcnf1", "ortholog_c_elegans": "exp-2, kvs-1, kvs-2, kvs-3, kvs-4, kvs-5", "ortholog_xenopus": "kcnf1", "ortholog_zebrafish": "kcnf1a, kcnf1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.8063, "sd_percent_ciliated": 2.244, "z_score": -0.6304 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0785, "sd_percent_ciliated": 0.0785, "z_score": 0.0785 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.5384, "sd_percent_ciliated": -4.5384, "z_score": -4.5384 } ] }, { "gene": "KCNH1", "ensembl_id": "ENSG00000143473", "overexpression_effects": "Not Reported", "lof_effects": "Altered cilia length", "percent_ciliated_cells_effects": "Increased", "description": "potassium voltage-gated channel subfamily H member 1 [Source:HGNC Symbol,Acc:HGNC:6250]", "omim_id": "603305", "functional_summary": "Also known as Kv10.1. Promotes ciliary disassembly and cell progression through localised changes of membrane potential at the ciliary base (28370099). Interacts with proteins involved in ciliary regulation, such as Rabaptin 5, cortactin, and HIF (27113750). KCNH1 mutations alter cilia length and morphology and affect ciliary transport\n(35639255) KCNH1 localizes at the base of the cilium in pre-ciliary vesicles and ciliary pocket; pathogenic missense variants perturb cilia morphology, assembly/disassembly, and SHH signaling. Quantification of the number of ciliated cells in wild-type and patient mutant fibroblasts. (35639255)", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Cilia length regulation", "reference": "26546361, 35639255,", "complex_components": ["KCNC1", "KCNH1", "KCNF1"], "pfam_ids": ["PF00027", "PF00520", "PF13426"], "domain_descriptions": ["PAS domain", "Cyclic nucleotide-binding domain", "PAS-associated", "C-terminal", "PAC motif", "Potassium channel", "voltage-dependent", "EAG/ELK/ERG-like", "Potassium channel", "voltage-dependent", "EAG", "Ion transport domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding domain superfamily", "PAS domain superfamily", "Potassium channel", "voltage-dependent", "EAG/ELK/ERG-like", "animal-type", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000143473", "synonym": "EAG, EAG1, H-EAG, HEAG, K(V)10.1, KV10.1", "ortholog_mouse": "Kcnh1", "ortholog_c_elegans": "egl-2", "ortholog_xenopus": "kcnh1", "ortholog_zebrafish": "kcnh1a, kcnh1b", "ortholog_drosophila": "eag", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.8311, "sd_percent_ciliated": 7.3522, "z_score": 0.0996, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.254, "sd_percent_ciliated": 0.254, "z_score": 0.254, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.8625, "sd_percent_ciliated": -4.8625, "z_score": -4.8625, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KCNJ10", "ensembl_id": "ENSG00000177807", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "potassium inwardly rectifying channel subfamily J member 10 [Source:HGNC Symbol,Acc:HGNC:6256]", "omim_id": "602208", "functional_summary": "Ion channel gene that exhibits a significant negative effect on ciliogenesis but not on cell number (26546361). Knockdown of Kcnj10 resulted in a lower percentage of ciliated cells. KCNJ10 localizes to the base of primary cilia. KCNJ10–GFP localized to primary cilia and rescued ciliogenesis after knockdown. Ion channel function of KCNJ10 is independent of its effect on ciliogenesis. (26546361)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30009826, 26546361", "complex_components": ["AQP4", "ATP1B1", "KCNJ10", "MLC1", "SNTG1", "TRPV4", "HEPACAM"], "pfam_ids": ["PF01007", "PF17655"], "domain_descriptions": ["Potassium channel", "inwardly rectifying", "Kir1.2", "Potassium channel", "inwardly rectifying", "Kir", "Potassium channel", "inwardly rectifying", "transmembrane domain", "Potassium channel", "inwardly rectifying", "Kir", "cytoplasmic", "Immunoglobulin E-set", "Inward rectifier potassium channel", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000177807", "synonym": "KIR1.2, KIR4.1", "ortholog_mouse": "Kcnj10", "ortholog_c_elegans": "irk-3", "ortholog_xenopus": "kcnj10", "ortholog_zebrafish": "kcnj10a", "ortholog_drosophila": "Irk3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.7172, "sd_percent_ciliated": 3.9998, "z_score": 1.6608 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.51, "sd_percent_ciliated": 0.51, "z_score": 0.51 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.8023, "sd_percent_ciliated": -5.8023, "z_score": -5.8023 } ] }, { "gene": "KCNJ13", "ensembl_id": "ENSG00000115474", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium inwardly rectifying channel subfamily J member 13 [Source:HGNC Symbol,Acc:HGNC:6259]", "omim_id": "603208", "functional_summary": "Mutations are associated with the human reti l dystrophies LCA and Snowflake Vitreoreti l Degeneration (30009826).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26546361, 25921210 ,25921210", "complex_components": {}, "pfam_ids": ["PF17655", "PF01007"], "domain_descriptions": ["Inward rectifier potassium channel 13", "Potassium channel", "inwardly rectifying", "Kir", "cytoplasmic", "Immunoglobulin E-set", "Potassium channel", "inwardly rectifying", "Kir", "Potassium channel", "inwardly rectifying", "transmembrane domain", "Inward rectifier potassium channel", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000115474", "synonym": "KIR1.4, KIR7.1, LCA16", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kcnj13", "ortholog_c_elegans": "irk-3", "ortholog_xenopus": "kcnj13", "ortholog_zebrafish": "kcnj13", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.4758, "sd_percent_ciliated": 4.3716, "z_score": 1.2681 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.01, "sd_percent_ciliated": 0.01, "z_score": 0.01 } ] }, { "gene": "KCNQ1", "ensembl_id": "ENSG00000282076", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "potassium voltage-gated channel subfamily Q member 1 [Source:HGNC Symbol,Acc:HGNC:6294]", "omim_id": "607542", "functional_summary": "Ion channel gene that exhibits a significant negative effect on ciliogenesis but not on cell number. Genetic variants are known to cause Long QT syndrome. KCNQ1 could be implicated in re l ciliopathies (26546361). Overexpression of WT KCNQ1–GFP localized to primary cilia and rescued loss of cilia after siRNA knockdown. Endogenous KCNQ1 localizes to base of primary cilia. Knockdown of Kcnq1 resulted in lower percentage of ciliated cells. (26546361)", "localization": "basal body, Microtubules, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "30404837, 26546361", "complex_components": ["AKAP9", "KCNQ1", "PPP1CA", "PRKACA", "PRKAR2A", "Kcne1", "KCNE2", "KCNE3", "KCNE4", "KCNE5", "CALM1", "KCNE1", "PDE4D"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000282076", "synonym": "JLNS1, KCNA8, KCNA9, KV7.1, KVLQT1, LQT, LQT1", "ortholog_mouse": "Kcnq1", "ortholog_c_elegans": "kqt-3", "ortholog_xenopus": "kcnq1", "ortholog_zebrafish": "kcnq1.1, kcnq1.2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.4145, "sd_percent_ciliated": 7.5949, "z_score": -0.4355, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.282, "sd_percent_ciliated": 0.282, "z_score": 0.282, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.3429, "sd_percent_ciliated": -9.3429, "z_score": -9.3429, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KCNRG", "ensembl_id": "ENSG00000198553", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium channel regulator [Source:HGNC Symbol,Acc:HGNC:18893]", "omim_id": "607947", "functional_summary": "KCNRG has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02214", "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "SKP1/BTB/POZ domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000198553", "ortholog_mouse": "Kcnrg", "ortholog_c_elegans": "T23G5.3", "ortholog_xenopus": "kcnrg", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.3914, "sd_percent_ciliated": 0.9746, "z_score": -0.3172 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.25, "sd_percent_ciliated": 1.25, "z_score": 1.25 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.0311, "sd_percent_ciliated": 1.0311, "z_score": 1.0311 } ] }, { "gene": "KCNU1", "ensembl_id": "ENSG00000215262", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium calcium-activated channel subfamily U member 1 [Source:HGNC Symbol,Acc:HGNC:18867]", "omim_id": "615215", "functional_summary": "SLO3 deficiency seriously impact acrosome formation, mitochondrial sheath assembly, and the function of K+ channels (34980136).", "localization": "flagella", "functional_category": "Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4980136E7", "complex_components": {}, "pfam_ids": ["PF00520", "PF03493", "PF21014", "PF22614"], "domain_descriptions": ["Ion transport domain", "Calcium-activated potassium channel slowpoke-like", "Calcium-activated potassium channel BK", "alpha subunit", "Ca2+-activated K+ channel Slowpoke-like", "C-terminal domain", "Calcium-activated potassium channel slowpoke-like", "RCK domain"], "string_link": "https://string-db.org/network/9606/ENSG00000215262", "synonym": "KCA5.1, KCNMA3, KCNMC1, SLO3", "ortholog_mouse": "Kcnu1", "ortholog_c_elegans": "slo-1", "ortholog_drosophila": "slo", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.1541, "sd_percent_ciliated": 2.5749, "z_score": -0.3459, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0168, "sd_percent_ciliated": 0.0168, "z_score": 0.0168, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5002, "sd_percent_ciliated": -2.5002, "z_score": -2.5002, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KCTD10", "ensembl_id": "ENSG00000110906", "overexpression_effects": "Not Reported", "lof_effects": "Impaired ciliogenesis", "percent_ciliated_cells_effects": "Reduced", "description": "potassium channel tetramerization domain containing 10 [Source:HGNC Symbol,Acc:HGNC:23236]", "omim_id": "613421", "functional_summary": "Component of cullin-3鈥. Through several screening steps, we identified the cullin-3–RBX1–KCTD10 complex as the E3 ligase that mediates CEP97 degradation and removal from the mother centriole. Depletion of each component of this E3 complex caused aberrant accumulation of CEP97 on the centrosome, suppressed the removal of CEP97 and CP110 from the mother centriole, and impaired ciliogenesis. KCTD10 was specifically localized to the mother centriole, and it was detected as a single dot adjacent to γ-tubulin at the base of the primary cilium in serum-starved cells. (30404837)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "25270598, 30404837", "complex_components": {}, "pfam_ids": "PF02214", "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "SKP1/BTB/POZ domain superfamily", "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1-3"], "string_link": "https://string-db.org/network/9606/ENSG00000110906", "synonym": "BTBD28, MSTP028", "ortholog_mouse": "Kctd10", "ortholog_c_elegans": "B0281.5, B0281.6, C40A11.2, C40A11.3, C40A11.4, C40A11.6, D2045.8, F22E5.12, F22E5.6, K02F6.5, K02F6.8, T05E12.3, T08G3.13, ZC239.14, ZC239.16, ZC239.17, ZC239.3, ZC239.4, ZC239.5", "ortholog_xenopus": "kctd10", "ortholog_zebrafish": "kctd10", "ortholog_drosophila": "CG10465", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.9934, "sd_percent_ciliated": 4.1777, "z_score": -1.0923 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 58.7, "sd_percent_ciliated": 58.7, "z_score": 58.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2393, "sd_percent_ciliated": -1.2393, "z_score": -1.2393 } ] }, { "gene": "KCTD16", "ensembl_id": "ENSG00000183775", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium channel tetramerization domain containing 16 [Source:HGNC Symbol,Acc:HGNC:29244]", "functional_summary": "KCTD16 has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["GNB1", "GNG2", "KCTD16"], "pfam_ids": ["PF23110", "PF02214"], "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "SKP1/BTB/POZ domain superfamily", "Potassium channel tetramerization domain-containing protein 16", "H1 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000183775", "synonym": "KIAA1317", "ortholog_mouse": "Kctd16", "ortholog_c_elegans": "F32B4.5, VM106R.1", "ortholog_xenopus": "kctd16", "ortholog_zebrafish": "kctd16a, kctd16b", "ortholog_drosophila": "Ktl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.3032, "sd_percent_ciliated": 1.1047, "z_score": -0.8125, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.41, "sd_percent_ciliated": 3.41, "z_score": 3.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KCTD17", "ensembl_id": "ENSG00000100379", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium channel tetramerization domain containing 17 [Source:HGNC Symbol,Acc:HGNC:25705]", "omim_id": "616386", "functional_summary": "Substrate-adaptor for Cul3- RING E3 ligases (CRL3s) that modulates polyubiquitylation of trichoplein and e bles cells to assemble primary cilia by limiting Aurora-A activity. KCTD17 is required to initiate the axoneme extension during ciliogenesi (25270598). Depletion of KCTD17 specifically arrests ciliogenesis at the initial step of axoneme extension through aberrant trichoplein–Aurora-A activity. Knockdown of KCTD17 shortened primary cilia of hTERT-RPE1 cells through inhibition of proteolysis of TCHP. (37780208)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "28246120 ,32825105", "complex_components": {}, "pfam_ids": "PF02214", "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "SKP1/BTB/POZ domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100379", "synonym": "FLJ12242", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kctd17", "ortholog_c_elegans": "inso-1", "ortholog_xenopus": "kctd17", "ortholog_zebrafish": "kctd17", "ortholog_drosophila": "inc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.0872, "sd_percent_ciliated": 11.4547, "z_score": -0.7175 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.93, "sd_percent_ciliated": 2.93, "z_score": 2.93 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5626, "sd_percent_ciliated": -3.5626, "z_score": -3.5626 } ] }, { "gene": "KCTD5", "ensembl_id": "ENSG00000167977", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "potassium channel tetramerization domain containing 5 [Source:HGNC Symbol,Acc:HGNC:21423]", "omim_id": "611285", "functional_summary": "18 genes identified whose loss reduced both basal Hedgehog sig ling and sig ling in response to SAG treatment (positive regulators), 20 genes whose loss activated the pathway without need for ligand (negative regulators), and two genes, Kctd5 and Ube2l3, that increased basal expression but reduced expression driven by SAG ( 34161574) Fig. S4 shows that Arih2, Maea, Mgrn1, Ube2l3, Kctd5, Bap1, Skp2, and Skp1a do not affect ciliogenesis. (34161574)", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4161574E7", "complex_components": {}, "pfam_ids": "PF02214", "domain_descriptions": ["BTB/POZ domain", "Potassium channel tetramerisation-type BTB domain", "SKP1/BTB/POZ domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000167977", "synonym": "FLJ20040", "ortholog_mouse": "Kctd5", "ortholog_c_elegans": "inso-1", "ortholog_xenopus": "kctd5", "ortholog_zebrafish": "kctd5a, kctd5b", "ortholog_drosophila": "inc", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.1472, "z_score": -1.4469, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.8047, "z_score": -2.3268, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.4805 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.313, "z_score": 0.313, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.313 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.6058, "z_score": -9.6058, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -9.6058 } ] }, { "gene": "KDM3A", "ensembl_id": "ENSG00000115548", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Increased", "description": "lysine demethylase 3A [Source:HGNC Symbol,Acc:HGNC:20815]", "omim_id": "611512", "functional_summary": "Negative regulator of ciliogenesis required for the controlled recruitment of IFT proteins into cilia through the modulation of actin dy mics. It binds to the actin cytoskeleton, creating a responsive actin gate involving ARP2/3 activity and regulating IFT within cilia and periciliary compartments. In the absence of KDM3A, access to cilia is unrestricted, so the assembly and growth of primary cilia is enhanced (28246120). Absence of KDM3A facilitates ciliogenesis … these cilia have an abnormally wide range of axonemal lengths, delaying disassembly and accumulating IFT proteins. KDM3A is a negative regulator of ciliogenesis … required for controlled recruitment of IFT proteins into cilia via actin dynamics. (28246120)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "30120214, 28246120", "complex_components": ["AR", "KDM3A", "ESR1", "TNK2"], "pfam_ids": ["PF22989", "PF22988", "PF02373", "PF22987"], "domain_descriptions": ["Domain of Not Reported function DUF7030", "Lysine-specific demethylase 3B", "PWWP domain", "JmjC domain", "Histone demethylase JHDM2-like", "Lysine-specific demethylase 3A/B", "tudor domain"], "string_link": "https://string-db.org/network/9606/ENSG00000115548", "synonym": "JHMD2A, JMJD1, JMJD1A, KIAA0742, TSGA", "ortholog_mouse": "Kdm3a", "ortholog_xenopus": "kdm3a", "ortholog_drosophila": "Kdm3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.872, "sd_percent_ciliated": 0.872, "z_score": 0.872, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1925, "sd_percent_ciliated": -2.1925, "z_score": -2.1925, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIAA0319", "ensembl_id": "ENSG00000137261", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "No effect", "description": "KIAA0319 [Source:HGNC Symbol,Acc:HGNC:21580]", "omim_id": "609269", "functional_summary": "KIAA0319 knockout cause increased cilia length and accelerated cell migration (PMID: 35031635). While a similar fraction of WT and Ex6KO cells formed cilia … the cilia in Ex6KO were significantly longer than in the wild type. (35031635)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "3.5031635E7", "complex_components": {}, "pfam_ids": ["PF23620", "PF22352", "PF23597"], "domain_descriptions": ["Immunoglobulin-like fold", "PKD/Chitinase domain", "Dyslexia-associated protein KIAA0319-like", "PKD domain superfamily", "KIAA0319-like", "C-terminal domain", "PKD domain", "Fibronectin type III", "Seven cysteines", "N-terminal", "MANSC domain"], "string_link": "https://string-db.org/network/9606/ENSG00000137261", "synonym": "NMIG", "ortholog_mouse": "D130043K22Rik", "ortholog_xenopus": "KIAA0319", "ortholog_zebrafish": "kiaa0319", "ortholog_drosophila": "CG7565", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.7725, "sd_percent_ciliated": 5.1102, "z_score": -1.4826 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.854, "sd_percent_ciliated": -0.854, "z_score": -0.854 } ] }, { "gene": "KIAA0586", "ensembl_id": "ENSG00000100578", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced", "description": "KIAA0586 [Source:HGNC Symbol,Acc:HGNC:19960]", "omim_id": "610178", "functional_summary": "Required for ciliogenesis and sonic hedgehog/SHH sig ling. Role in primary cilia formation and microtubule organisation (19144723). Component of a CP110-containing protein complex required for centrosome and cilia function, Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation. Essential for centrosomal migration prior to ciliogenesis (24421332). Mutated in Joubert syndrome (26096313) and in skeletal ciliopathies (31816441, 32080096) KIAA0586 … is essential for primary ciliogenesis. In control cells … protrude from 60% of cells … only 20% of mutant cells bear a primary cilia. (26166481)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28220259, 24613305, 31816441, 29138412, 26096313, 26166481, ,26096313; 26166481", "complex_components": {}, "pfam_ids": "PF15324", "domain_descriptions": "Protein TALPID3", "string_link": "https://string-db.org/network/9606/ENSG00000100578", "synonym": "JBTS23, TALPID3", "ciliopathy": "Joubert Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "2700049A03Rik", "ortholog_xenopus": "KIAA0586", "ortholog_zebrafish": "si:ch211-185a18.2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.0356, "z_score": -1.4121, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.0645, "z_score": -2.4164, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.7372 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 11.1, "z_score": 11.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 11.1 } ] }, { "gene": "KIAA0753", "ensembl_id": "ENSG00000198920", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced", "description": "KIAA0753 [Source:HGNC Symbol,Acc:HGNC:29110]", "omim_id": "617112", "functional_summary": "Mutated cause impaired ciliogenesis and result in Joubert Syndrome. Regulates centriole duplication positively by recruiting CDK2 to the centrosome, as well as WDR62 to the pericentriolar complex, which in turn recruits CEP63, interacts with CEP63, and regulate CEP63 level at the centrosome(28220259, 24613305). Also cause skeletal ciliopathies (31816441, 29138412). Cilia formation in primary fibroblasts from patients was significantly lower than in controls (Genomicsengland)", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "28134340, 26643951, 29138412, 31816441, 28220259 ,28220259; 26643951; 29138412, 31816441", "complex_components": ["CEP20", "KIAA0753", "OFD1", "PIBF1"], "pfam_ids": "PF15718", "domain_descriptions": "Protein moonraker", "string_link": "https://string-db.org/network/9606/ENSG00000198920", "synonym": "MNR, OFIP", "ciliopathy": "Joubert Syndrome; Orofaciodigital Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "4933427D14Rik", "ortholog_xenopus": "KIAA0753", "ortholog_zebrafish": "si:dkey-243i1.1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.653, "sd_percent_ciliated": 0.5667, "z_score": 0.1992 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 29.3, "sd_percent_ciliated": 29.3, "z_score": 29.3 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2635, "sd_percent_ciliated": -0.2635, "z_score": -0.2635 } ] }, { "gene": "KIAA1328", "ensembl_id": "ENSG00000150477", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "KIAA1328 [Source:HGNC Symbol,Acc:HGNC:29248]", "omim_id": "616480", "functional_summary": "KIAA1328 localized strongly and specifically to basal bodies, strongly supporting their participation in centrosomal and ciliary biology(28596423).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8596423E7", "complex_components": {}, "pfam_ids": "PF15369", "domain_descriptions": "Protein hinderin", "string_link": "https://string-db.org/network/9606/ENSG00000150477", "ortholog_mouse": "AW554918", "ortholog_xenopus": "KIAA1328", "ortholog_zebrafish": "zgc:162344", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.3643, "z_score": 0.2739, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 44.089, "z_score": 0.7366, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.1642 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.01, "z_score": 5.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 5.01 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2464, "z_score": -0.2464, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.2464 } ] }, { "gene": "KIAA1549", "ensembl_id": "ENSG00000122778", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "KIAA1549 [Source:HGNC Symbol,Acc:HGNC:22219]", "omim_id": "613344", "functional_summary": "Mutations are associated with Retinitis Pigmentosa (30120214). Kiaa1549 was found to localise at the connecting cilium of photoreceptor cells. Percentage of ciliated cells and average cilium length showed no significant difference … suggesting KIAA1549 does not have a function in the formation of cilia. (30120214)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "27245168, 26714646, 30982090, 32164589, 30120214", "complex_components": {}, "pfam_ids": "PF12877", "domain_descriptions": "UPF0606 protein KIAA1549", "string_link": "https://string-db.org/network/9606/ENSG00000122778", "ortholog_mouse": "D630045J12Rik", "ortholog_xenopus": "LOC116409447", "ortholog_zebrafish": "si:ch211-1e14.1, si:dkeyp-27e10.3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.25, "sd_percent_ciliated": 5.25, "z_score": 5.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KIAA1671", "ensembl_id": "ENSG00000197077", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "KIAA1671 [Source:HGNC Symbol,Acc:HGNC:29345]", "functional_summary": "KIAA1671 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15327", "domain_descriptions": ["Tankyrase 1-binding protein", "C-terminal", "Tankyrase 1-binding protein-like"], "string_link": "https://string-db.org/network/9606/ENSG00000197077", "ortholog_mouse": "2900026A02Rik", "ortholog_xenopus": "KIAA1671", "ortholog_zebrafish": "si:ch73-138n13.1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KIF11", "ensembl_id": "ENSG00000138160", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "kinesin family member 11 [Source:HGNC Symbol,Acc:HGNC:6388]", "omim_id": "148760", "functional_summary": "KIF11 has been demonstrated to have microtubule polymerase activity, as well as to control axon growth(26437877, 17846176). It has also been shown to mediate centrosome migration after mitosis and move Golgi material(9701554 , 23857769). An interphase pool of KIF11 localizes at the basal bodies of primary cilia and a reduction in KIF11 expression alters cilia dy mics(32811879).Upon the reduction of KIF11 expression, the number of ciliated cells in asynchronously growing populations was significantly increased. Depleting KIF11 resulted in an increase in cilium length and an attenuation in the kinetics of cilia disassembly(PMID: 32811879).", "localization": "cilia, basal body, Cytosol, Microtubules, Ribosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Axon guidance & growth", "reference": "26437877, 17846176 , 9701554 , 23857769 , 32811879", "complex_components": ["CORO2A", "GPS2", "HDAC3", "KDM4A", "KIF11", "NCOR1", "TBL1X", "TBL1XR1", "TRIM33", "ZBTB33", "KAT2B", "MYSM1"], "pfam_ids": ["PF00225", "PF13931"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "Kinesin-associated microtubule-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin motor domain superfamily", "Kinesin-like protein KIF11-like", "Kinesin-like protein KIF11-like", "kinesin motor domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138160", "synonym": "EG5, HKSP, KNSL1, TRIP5", "ortholog_mouse": "Kif11", "ortholog_c_elegans": "bmk-1", "ortholog_xenopus": "kif11", "ortholog_zebrafish": "kif11", "ortholog_drosophila": "Klp61F", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.1759, "z_score": -1.4559, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 24.4061, "z_score": -1.6481, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.3739 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.43, "z_score": 3.43, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.43 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9214, "z_score": -4.9214, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.9214 } ] }, { "gene": "KIF12", "ensembl_id": "ENSG00000136883", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "kinesin family member 12 [Source:HGNC Symbol,Acc:HGNC:21495]", "omim_id": "611278", "functional_summary": "The Mpkd2 locus-associated gene Kif12 encodes a primary cilium-associated protein (26295839).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "2.6295839E7", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000136883", "ortholog_mouse": "Kif12", "ortholog_drosophila": "Klp54D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.3367, "sd_percent_ciliated": 3.9236, "z_score": -0.5661 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.126, "sd_percent_ciliated": 0.126, "z_score": 0.126 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.3391, "sd_percent_ciliated": -7.3391, "z_score": -7.3391 } ] }, { "gene": "KIF13A", "ensembl_id": "ENSG00000137177", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "kinesin family member 13A [Source:HGNC Symbol,Acc:HGNC:14566]", "omim_id": "605433", "functional_summary": "Kinesin-3 members KIF13A, KIF1A, KIF1B also contain RPGRIP1N-C2 domains, like KIF13B , KIF13A heterologously expressed at the centrosome/cilium (28134340).", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation", "reference": "2.813434E7", "complex_components": {}, "pfam_ids": ["PF00225", "PF12473", "PF00498", "PF16183", "PF12423"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "Kinesin motor domain", "SMAD/FHA domain superfamily", "Kinesin motor domain", "conserved site", "Kinesin-like KIF1-type", "Kinesin-like", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-associated", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137177", "synonym": "BA500C11.2, RBKIN", "ortholog_mouse": "Kif13a", "ortholog_c_elegans": "klp-4", "ortholog_xenopus": "kif13a", "ortholog_zebrafish": "kif13a", "ortholog_drosophila": "Khc-73", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.4676, "sd_percent_ciliated": 9.9613, "z_score": -0.7926 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0322, "sd_percent_ciliated": 0.0322, "z_score": 0.0322 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0788, "sd_percent_ciliated": -0.0788, "z_score": -0.0788 } ] }, { "gene": "KIF13B", "ensembl_id": "ENSG00000197892", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "kinesin family member 13B [Source:HGNC Symbol,Acc:HGNC:14405]", "omim_id": "607350", "functional_summary": "Essential for establishment of a CAV1 membrane microdomain at the transition zone and promotes Sonic hedgehog sig lling. Regulates transition zone membrane composition and ciliary SMO accumulation. Recruited to the ciliary base by NPHP4 (28134340).KIF13B-deficient cells had elongated cilia. Ciliogenesis frequency appeared to be the same in control and KIF13B siRNA-depleted cells (PMID: 28134340).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "32348467, 30388224, 24128419,28134340", "complex_components": {}, "pfam_ids": ["PF12423", "PF01302", "PF16183", "PF00225", "PF12473", "PF00498"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "CAP Gly-rich domain", "Kinesin motor domain", "SMAD/FHA domain superfamily", "Kinesin motor domain", "conserved site", "Kinesin-like KIF1-type", "Kinesin-like", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-associated", "CAP Gly-rich domain superfamily", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000197892", "synonym": "GAKIN, KIAA0639", "ortholog_mouse": "Kif13b", "ortholog_c_elegans": "klp-4", "ortholog_xenopus": "kif13b", "ortholog_zebrafish": "kif13ba, kif13bb", "ortholog_drosophila": "Khc-73", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.89, "sd_percent_ciliated": 2.2015, "z_score": -0.4991 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.603, "sd_percent_ciliated": 0.603, "z_score": 0.603 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6439, "sd_percent_ciliated": 0.6439, "z_score": 0.6439 } ] }, { "gene": "KIF14", "ensembl_id": "ENSG00000118193", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "kinesin family member 14 [Source:HGNC Symbol,Acc:HGNC:19181]", "omim_id": "611279", "functional_summary": "Regulator of chromosome segregation, cytokinesis and midbody formation. Regulator of cilia formation, basal body biogenesis and Hedgehog (HH) sig ling. Depletion of KIF14 specifically leads to defects in ciliogenesis and basal body biogenesis (32348467). Mutations in humans and zebrafish cause ciliopathy-like kidney and microcephaly phenotypes (30388224, 24128419). Not Reported Shorter cilia Reduced cilia numbers(PMID: 32348467).", "localization": "basal body, cilia, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26136363, 20526328, 28077622, 18304522, 24128419 ,24128419", "complex_components": ["KIF14", "KIF20A", "KIF23", "KIF4A", "PRC1"], "pfam_ids": ["PF23313", "PF16183", "PF00225", "PF00498"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "Kinesin motor domain", "SMAD/FHA domain superfamily", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-associated", "Kinesin motor domain superfamily", "KIF14", "four-helical bundle"], "string_link": "https://string-db.org/network/9606/ENSG00000118193", "synonym": "KIAA0042", "ciliopathy": "Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kif14", "ortholog_xenopus": "kif14", "ortholog_zebrafish": "kif14", "ortholog_drosophila": "neb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.2955, "sd_percent_ciliated": 6.8445, "z_score": 0.3981, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.723, "sd_percent_ciliated": 0.723, "z_score": 0.723, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0137, "sd_percent_ciliated": -2.0137, "z_score": -2.0137, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF17", "ensembl_id": "ENSG00000117245", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "kinesin family member 17 [Source:HGNC Symbol,Acc:HGNC:19167]", "omim_id": "605037", "functional_summary": "Interacts with importin-尾2 and Rab23 (26136363). Motor protein that may be needed to position the ciliary localization sig l CLS- containing protein at the ciliary base (20526328). Interacts with the IFT46鈥揑FT56 dimer in the IFT- B complex (28077622). Required for photoreceptor OS formation and protein targeting, implicated in ciliary membrane protein trafficking (18304522).When cilia were immunostained with antibodies against Arl13b and Ac-α-tubulin after induction of ciliogenesis , no significant difference was observed in the proportion of ciliated cells or ciliary length between control RPE1 cells and the two KIF17-KO cell lines(PMID: 28077622).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "27690357, 23168168, 28077622", "complex_components": ["KIF17", "RAB23", "TNPO1"], "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000117245", "synonym": "KIAA1405, KIF17B, KIF3X, KLP-2, OSM-3", "ortholog_mouse": "Kif17", "ortholog_c_elegans": "osm-3", "ortholog_xenopus": "kif17", "ortholog_zebrafish": "kif17", "ortholog_drosophila": "Kif3C", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.8757, "sd_percent_ciliated": 0.767, "z_score": -0.0162 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.599, "sd_percent_ciliated": 0.599, "z_score": 0.599 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.473, "sd_percent_ciliated": -4.473, "z_score": -4.473 } ] }, { "gene": "KIF18B", "ensembl_id": "ENSG00000186185", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "kinesin family member 18B [Source:HGNC Symbol,Acc:HGNC:27102]", "omim_id": "614570", "functional_summary": "The loss of si:dkey-26i13.8 (KIF18B in human), showed a significant reduction in the length of motile cilia in the kidney tubules(25139857).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": ["PF00225", "PF16796"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Spindle pole body-associated protein Vik1/Cik1", "microtubule binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000186185", "ortholog_mouse": "Kif18b", "ortholog_xenopus": "kif18b", "ortholog_drosophila": "Klp67A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.76, "sd_percent_ciliated": 2.76, "z_score": 2.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5227, "sd_percent_ciliated": -2.5227, "z_score": -2.5227, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF19", "ensembl_id": "ENSG00000196169", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "kinesin family member 19 [Source:HGNC Symbol,Acc:HGNC:26735]", "omim_id": "619610", "functional_summary": "Also known as KIF19A. Controls ciliary length through its microtubule depolymerising activity. It also has a role in microtubule- based active motility toward the plus-end (27690357). Maintains the optimal length of motile cilia by depolymerising newly polymerised from axoneme at ciliary tips (23168168).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Cell migration & adhesion", "reference": "25660017, 31197141", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Orphan G-protein coupled receptor 1"], "string_link": "https://string-db.org/network/9606/ENSG00000196169", "synonym": "FLJ37300, KIF19A", "ortholog_mouse": "Kif19a", "ortholog_c_elegans": "klp-13", "ortholog_xenopus": "kif19", "ortholog_zebrafish": "kif19", "ortholog_drosophila": "Kif19A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8028, "sd_percent_ciliated": -0.8028, "z_score": -0.8028, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF1A", "ensembl_id": "ENSG00000130294", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 1A [Source:HGNC Symbol,Acc:HGNC:888]", "omim_id": "601255", "functional_summary": "Cells expressing KIF1A or KIF1B, the fusion protein, kinesin-3 motors, and was detected at the ciliary base but not within the cilium itself in ciliated RPE1 cells (28134340).", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "2.813434E7", "complex_components": {}, "pfam_ids": ["PF12423", "PF00498", "PF00169", "PF00225", "PF12473", "PF16183"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "Kinesin motor domain", "Pleckstrin homology domain", "SMAD/FHA domain superfamily", "PH-like domain superfamily", "Kinesin motor domain", "conserved site", "Kinesin-like KIF1-type", "Kinesin-like", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-associated", "Kinesin motor domain superfamily", "Kinesin-like protein KIF1A", "forkhead associated domain", "Kinesin-like protein KIF1A/B", "pleckstrin homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000130294", "synonym": "ATSV, C2ORF20, SPG30, UNC104", "ortholog_mouse": "Kif1a", "ortholog_c_elegans": "unc-104", "ortholog_xenopus": "kif1a", "ortholog_zebrafish": "kif1aa, kif1ab", "ortholog_drosophila": "unc-104", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.1749, "sd_percent_ciliated": 5.8317, "z_score": -0.2222, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.822, "sd_percent_ciliated": 0.822, "z_score": 0.822, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.034, "sd_percent_ciliated": -3.034, "z_score": -3.034, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF1B", "ensembl_id": "ENSG00000054523", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 1B [Source:HGNC Symbol,Acc:HGNC:16636]", "omim_id": "605995", "functional_summary": "Cells expressing KIF1A or KIF1B, the fusion protein, kinesin-3 motors, and was detected at the ciliary base but not within the cilium itself in ciliated RPE1 cells (28134340).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "2.813434E7", "complex_components": {}, "pfam_ids": ["PF00225", "PF00498", "PF16183", "PF00169", "PF12473", "PF12423"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "Kinesin motor domain", "SMAD/FHA domain superfamily", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-associated", "Kinesin motor domain superfamily", "Pleckstrin homology domain", "PH-like domain superfamily", "Kinesin-like KIF1-type", "Kinesin-like", "Kinesin-like protein KIF1A/B", "pleckstrin homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000054523", "synonym": "CMT2, CMT2A, HMSNII, KIAA0591, KLP", "ortholog_mouse": "Kif1b", "ortholog_c_elegans": "unc-104", "ortholog_xenopus": "kif1b", "ortholog_zebrafish": "kif1b", "ortholog_drosophila": "unc-104", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.2467, "sd_percent_ciliated": 14.155, "z_score": -0.577, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 9.39, "sd_percent_ciliated": 9.39, "z_score": 9.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5407, "sd_percent_ciliated": 0.5407, "z_score": 0.5407, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF1C", "ensembl_id": "ENSG00000129250", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 1C [Source:HGNC Symbol,Acc:HGNC:6317]", "omim_id": "603060", "functional_summary": "KIF1C has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00498", "PF00225", "PF16183", "PF16796"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "Kinesin motor domain", "SMAD/FHA domain superfamily", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-associated", "Kinesin motor domain superfamily", "Spindle pole body-associated protein Vik1/Cik1", "microtubule binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000129250", "synonym": "SAX2, SPAX2, SPG58", "ortholog_mouse": "Kif1c", "ortholog_c_elegans": "unc-104", "ortholog_xenopus": "kif1c", "ortholog_zebrafish": "kif1ca", "ortholog_drosophila": "unc-104", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.9082, "sd_percent_ciliated": 2.2512, "z_score": -0.2546 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.828, "sd_percent_ciliated": 0.828, "z_score": 0.828 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2184, "sd_percent_ciliated": -0.2184, "z_score": -0.2184 } ] }, { "gene": "KIF20B", "ensembl_id": "ENSG00000138182", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 20B [Source:HGNC Symbol,Acc:HGNC:7212]", "omim_id": "605498", "functional_summary": "KIF20B has localized in basal body.", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin motor domain superfamily", "Kinesin-like protein KIF11-like"], "string_link": "https://string-db.org/network/9606/ENSG00000138182", "synonym": "CT90, KRMP1, MPHOSPH1, MPP1", "ortholog_mouse": "Kif20b, Mpp1", "ortholog_c_elegans": "lin-2", "ortholog_xenopus": "kif20b", "ortholog_zebrafish": "kif20ba, kif20bb, mpp1", "ortholog_drosophila": "CASK", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.6, "sd_percent_ciliated": 5.6, "z_score": 5.6, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5845, "sd_percent_ciliated": 0.5845, "z_score": 0.5845, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF23", "ensembl_id": "ENSG00000137807", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 23 [Source:HGNC Symbol,Acc:HGNC:6392]", "omim_id": "605064", "functional_summary": "KIF23 localized to flagella (25613900)", "localization": "flagella, Centrosome, Cytosol, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Metabolism", "reference": "2.56139E7", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "ECT2", "KIF14", "KIF20A", "KIF4A", "PRC1"], "pfam_ids": ["PF16540", "PF00225"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin-like protein Kif23", "Arf6-interacting domain", "Kinesin motor domain superfamily", "Kinesin-like protein Kif23", "Arf6-interacting domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137807", "synonym": "KNSL5, MKLP-1, MKLP1", "ortholog_mouse": "Kif23", "ortholog_c_elegans": "zen-4", "ortholog_xenopus": "kif23", "ortholog_zebrafish": "kif23", "ortholog_drosophila": "pav", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.5278, "sd_percent_ciliated": 5.416, "z_score": -0.3006, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.57, "sd_percent_ciliated": 5.57, "z_score": 5.57, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.3657, "sd_percent_ciliated": -8.3657, "z_score": -8.3657, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF24", "ensembl_id": "ENSG00000186638", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "kinesin family member 24 [Source:HGNC Symbol,Acc:HGNC:19916]", "omim_id": "613747", "functional_summary": "Physiological substrate of Nek2. It prevents the outgrowth of cilia in proliferating cells. Ensure the disassembly of a ciliary axoneme in the later stages of the cell cycle (26290419). Interacts with CP110 and Cep97. Regulates ciliogenesis by dy mically controlling microtubule polymerisation (21620453). Controls the formation of primary cilia by restricting the nucleation of cilia at centrioles, it regulates CP110 localisation at mother centrioles (21663786).", "localization": "basal body, transition zone, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "19933103, 19305393, 23907739 ,19264963", "complex_components": {}, "pfam_ids": ["PF00225", "PF00536"], "domain_descriptions": ["Sterile alpha motif domain", "Kinesin motor domain", "Sterile alpha motif/pointed domain superfamily", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000186638", "synonym": "BA571F15.4, C9ORF48, FLJ10933, FLJ43884", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kif24", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2711, "sd_percent_ciliated": -1.2711, "z_score": -1.2711, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF26A", "ensembl_id": "ENSG00000066735", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 26A [Source:HGNC Symbol,Acc:HGNC:20226]", "omim_id": "613231", "functional_summary": "KIF26A localized to flagella (25613900)", "localization": "flagella, Cytosol", "functional_category": "Actin & cytoskeleton regulation", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": ["PF23081", "PF00225"], "domain_descriptions": ["Kinesin motor domain", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000066735", "synonym": "DKFZP434N178, KIAA1236", "ortholog_mouse": "Kif26a", "ortholog_c_elegans": "vab-8", "ortholog_xenopus": "kif26a", "ortholog_zebrafish": "kif26aa, kif26ab", "ortholog_drosophila": "CG14535", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.6889, "sd_percent_ciliated": 4.2849, "z_score": -0.5234 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3442, "sd_percent_ciliated": -3.3442, "z_score": -3.3442 } ] }, { "gene": "KIF26B", "ensembl_id": "ENSG00000281216", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 26B [Source:HGNC Symbol,Acc:HGNC:25484]", "omim_id": "614026", "functional_summary": "KIF26B localized at cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281216", "synonym": "FLJ10157", "ortholog_mouse": "Kif26b", "ortholog_c_elegans": "vab-8", "ortholog_xenopus": "kif26b", "ortholog_zebrafish": "kif26ba, kif26bb", "ortholog_drosophila": "CG14535", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.0394, "sd_percent_ciliated": 9.8801, "z_score": -0.481 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.37, "sd_percent_ciliated": 0.37, "z_score": 0.37 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.648, "sd_percent_ciliated": -4.648, "z_score": -4.648 } ] }, { "gene": "KIF27", "ensembl_id": "ENSG00000165115", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "kinesin family member 27 [Source:HGNC Symbol,Acc:HGNC:18632]", "omim_id": "611253", "functional_summary": "Essential for pla rian ciliogenesis (19933103). Kif27 expression is upregulated during mouse tracheal epithelial cells differentiation, consistent with their essential roles in motile ciliogenesis (19305393). Interacts with Fu and both may regulate central pair assembly, probably through the recruitment or activation of central pair proteins such as Spag16 and Pcdp1. It could also interact with basal body components or accessory structures in controlling cilia orientation (23907739).Using scanning electron microscopy (SEM), reduced ciliation in the brain ependyma and morphological defects for respiratory motile cilia including reduced cilia length observed , supporting a role for KIF27 in motile cilia biogenesis.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Cilia length regulation", "reference": "23386061 , https://doi.org/10.1101/2025.01.10.632296", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000165115", "synonym": "DKFZP434D0917", "ortholog_mouse": "Kif27", "ortholog_xenopus": "kif27", "ortholog_drosophila": "cos", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.7437, "sd_percent_ciliated": 1.262, "z_score": 0.2101, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.28, "sd_percent_ciliated": 1.28, "z_score": 1.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.936, "sd_percent_ciliated": -2.936, "z_score": -2.936, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF28P", "ensembl_id": "ENSG00000223519", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 28, pseudogene [Source:HGNC Symbol,Acc:HGNC:49205]", "functional_summary": "Cell-specific kinesin-3 KLP-6(KIF28) acts as a modulator of both IFT dy mics and length in the cephalic male (CEM) cilia of Caenorhabditis elegans. KLP-6 moves independently of the kinesin-2 motors and acts to reduce the velocity of OSM-3 and IFT (21757353).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "2.1757353E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000223519", "synonym": "KLP-6", "ortholog_mouse": "Kif28", "ortholog_c_elegans": "klp-6", "ortholog_xenopus": "kif28", "ortholog_zebrafish": "kif28", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.06, "sd_percent_ciliated": 2.06, "z_score": 2.06, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KIF2A", "ensembl_id": "ENSG00000068796", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "kinesin family member 2A [Source:HGNC Symbol,Acc:HGNC:6318]", "omim_id": "602591", "functional_summary": "Promotes the primary cilium disassembly through its microtubule-depolymerising activity at the mother centriole, coupled with cell proliferation and blocking i ppropriate ciliogenesis during the cycling phase. Controls the cytoplasmic tubulin concentration to regulate primary cilia disassembly (25660017). Mutations cause primary microcephaly. Recruited by CEP170 (31197141).", "localization": "basal body, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "26290419, 21620453, 21663786 ,25660017", "complex_components": ["CEP128", "CEP170", "CNTRL", "DCTN1", "KIF2A", "NIN", "ODF2"], "pfam_ids": ["PF22923", "PF00225"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Kinesin-like protein KIF2A-like", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000068796", "synonym": "HK2, KIF2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Hk2, Kif2a", "ortholog_c_elegans": "hxk-1, hxk-2, hxk-3, klp-7", "ortholog_xenopus": "hkdc1, kif2a", "ortholog_zebrafish": "hk2, kif2a", "ortholog_drosophila": "Hex-A, Hex-C, Hex-T, Hexl, Klp10A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6099, "sd_percent_ciliated": -5.6099, "z_score": -5.6099, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF2B", "ensembl_id": "ENSG00000141200", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 2B [Source:HGNC Symbol,Acc:HGNC:29443]", "omim_id": "615142", "functional_summary": "Exogenous KIF2A, KIF2B, and KIF2C all localized to the basal bodys, and KIF2A and KIF2C, but not KIF2B, reduced ciliated cells to around 10%–20% compared with the control AcGFP1 (25660017).", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "2.5660017E7", "complex_components": {}, "pfam_ids": ["PF00225", "PF22923"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Kinesin-like protein KIF2A-like", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000141200", "ortholog_mouse": "Kif2b", "ortholog_c_elegans": "klp-7", "ortholog_drosophila": "Klp10A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.784, "sd_percent_ciliated": 13.0988, "z_score": -0.8754 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0946, "sd_percent_ciliated": 0.0946, "z_score": 0.0946 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.2637, "sd_percent_ciliated": -3.2637, "z_score": -3.2637 } ] }, { "gene": "KIF2C", "ensembl_id": "ENSG00000142945", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 2C [Source:HGNC Symbol,Acc:HGNC:6393]", "omim_id": "604538", "functional_summary": "Exogenous KIF2A, KIF2B, and KIF2C all localized to the basal bodys, and KIF2A and KIF2C, but not KIF2B, reduced ciliated cells to around 10%–20% compared with the control AcGFP1 (25660017).", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5660017E7", "complex_components": {}, "pfam_ids": ["PF00225", "PF22923"], "domain_descriptions": ["Kinesin motor domain", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Kinesin-like protein KIF2A-like", "N-terminal", "Kinesin motor domain", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000142945", "synonym": "CT139, KNSL6, MCAK", "ortholog_mouse": "Kif2c", "ortholog_c_elegans": "klp-7", "ortholog_xenopus": "kif2c", "ortholog_zebrafish": "kif2c", "ortholog_drosophila": "Klp10A, Klp59C, Klp59D", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.0496, "sd_percent_ciliated": 5.7438, "z_score": 0.126, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.577, "sd_percent_ciliated": 0.577, "z_score": 0.577, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7118, "sd_percent_ciliated": -0.7118, "z_score": -0.7118, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF3A", "ensembl_id": "ENSG00000131437", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "kinesin family member 3A [Source:HGNC Symbol,Acc:HGNC:6319]", "omim_id": "604683", "functional_summary": "Required for cilia assembly, function and organisation of subdistal appendiges of centrioles. Recruits p150Glued to the subdistal appendages of mother centrioles, critical for centrosomes to function as microtubule-organising centres and to recruit other subdistal appendage components such as Ninein and Cep170. Loss of Kif3a abrogates microtubule anchoring and ciliary basal foot formation (23386061).Conditional deletion of Kif3a resulted in the reduction of primary cilia number by 51% and length by 27% in osteoblasts(PMID: 22357948).", "localization": "cilia, Centrosome, Cytosol, Endosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30057303 , 22357948", "complex_components": ["KIF3A", "KIF3B", "PARD3", "PARD6A", "PRKCI", "PKD2", "PKHD1", "AP3D1", "AP3S1", "RAB4A", "RBSN"], "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000131437", "synonym": "FLA10, KLP-20", "ortholog_mouse": "Kif3a", "ortholog_c_elegans": "klp-20", "ortholog_xenopus": "kif3a", "ortholog_zebrafish": "kif3a", "ortholog_drosophila": "Klp64D", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.8492, "z_score": -1.3539, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 26.3258, "z_score": -1.4155, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.9345 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 93.6, "z_score": 93.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 93.6 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1411, "z_score": -0.1411, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.1411 } ] }, { "gene": "KIF3B", "ensembl_id": "ENSG00000101350", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 3B [Source:HGNC Symbol,Acc:HGNC:6320]", "omim_id": "603754", "functional_summary": "Essential for ciliogenesis and the left鈥搑ight asymmetry through intraciliary transportation of materials for ciliogenesis of motile cilia that produces the nodal flow (9865700). Its phosphorylation inhibits IFT entry and flagellar lengthening restricting flagellar assembly (30057303). The cilia in the KIF3B’-YFP/FLA10/KAP cells had an average length of 10.6 ± 1.1 μm (n = 50),~15% shorter compared to the control cells (12.6 ± 1.3 μm, n = 50) and WT cells (PMID: 33112235).", "localization": "cilia, Centrosome, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "22308397, 23123805, 32386558 , 33112235", "complex_components": ["KIF3A", "KIF3B", "PARD3", "PARD6A", "PRKCI"], "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101350", "synonym": "FLA8, KIAA0359, KLP-11", "ortholog_mouse": "Kif3b", "ortholog_c_elegans": "klp-11", "ortholog_xenopus": "kif3b", "ortholog_zebrafish": "kif3b", "ortholog_drosophila": "Klp68D", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.3523, "z_score": -1.511, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 23.9758, "z_score": -1.7002, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 10.437 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 116, "z_score": 116, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 116 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1323, "z_score": -2.1323, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.1323 } ] }, { "gene": "KIF3C", "ensembl_id": "ENSG00000084731", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 3C [Source:HGNC Symbol,Acc:HGNC:6321]", "omim_id": "602845", "functional_summary": "KIF3C dimerizes with KIF3A, redundant with KIF3B. Contributes to ciliogenesis, driving the differentiation of outer segments at later stages of cilia formation (22308397, 23123805)", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "29445114, 31636894", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000084731", "ortholog_mouse": "Kif3c", "ortholog_c_elegans": "klp-11", "ortholog_xenopus": "kif3c", "ortholog_zebrafish": "kif3cb", "ortholog_drosophila": "Klp68D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.7866, "sd_percent_ciliated": 1.9879, "z_score": 0.7 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.118, "sd_percent_ciliated": 0.118, "z_score": 0.118 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0858, "sd_percent_ciliated": 0.0858, "z_score": 0.0858 } ] }, { "gene": "KIF4A", "ensembl_id": "ENSG00000090889", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 4A [Source:HGNC Symbol,Acc:HGNC:13339]", "omim_id": "300521", "functional_summary": "KIF4A has localized in flagella.", "localization": "flagella, Cytosol, Microtubules, Nucleus", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["DNMT3B", "HDAC1", "KIF4A", "SIN3A", "SMARCA5", "SMC2", "SMC4", "KIF14", "KIF20A", "KIF23", "PRC1"], "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000090889", "synonym": "FLJ12530, FLJ12655, FLJ14204, FLJ20631, HSA271784, KIF4, KIF4-G1, MRX100", "ortholog_mouse": "Kif4", "ortholog_c_elegans": "klp-19", "ortholog_xenopus": "kif4a, LOC100494653", "ortholog_zebrafish": "kif4", "ortholog_drosophila": "Klp3A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.4415, "sd_percent_ciliated": 4.392, "z_score": -1.038 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 16.2, "sd_percent_ciliated": 16.2, "z_score": 16.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.6451, "sd_percent_ciliated": -3.6451, "z_score": -3.6451 } ] }, { "gene": "KIF4B", "ensembl_id": "ENSG00000226650", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 4B [Source:HGNC Symbol,Acc:HGNC:6322]", "omim_id": "609184", "functional_summary": "KIF4B has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Tesmin/TSO1-like CXC domain", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000226650", "ortholog_mouse": "Kif4", "ortholog_c_elegans": "klp-19", "ortholog_xenopus": "kif4a, LOC100494653", "ortholog_zebrafish": "kif4", "ortholog_drosophila": "Klp3A", "screens": {} }, { "gene": "KIF5A", "ensembl_id": "ENSG00000155980", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "kinesin family member 5A [Source:HGNC Symbol,Acc:HGNC:6323]", "omim_id": "602821", "functional_summary": "KIF5A localized to flagella (25613900).LoF of KIF5A didn't change cilia length and ciliation(PMID: 29445114).", "localization": "flagella, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Cilia length regulation", "reference": "25613900, 29445110 ,29445114", "complex_components": ["KIF5A", "ZFYVE27", "RAB11B"], "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000155980", "synonym": "D12S1889, MY050, NKHC, SPG10", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kif5a", "ortholog_c_elegans": "unc-116", "ortholog_xenopus": "kif5a", "ortholog_zebrafish": "kif5aa, kif5ab", "ortholog_drosophila": "Khc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.7566, "sd_percent_ciliated": 0.6978, "z_score": -0.8787, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.3892, "sd_percent_ciliated": 1.3892, "z_score": 1.3892, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF5B", "ensembl_id": "ENSG00000170759", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "kinesin family member 5B [Source:HGNC Symbol,Acc:HGNC:6324]", "omim_id": "602809", "functional_summary": "Inhibitory role on cilia extension. Interacts with CCDC28B to regulate cilia length and the sub-cellular distribution of CCDC28B (29445114). Required for intraflagellar transport and the formation of primary cilia (31636894).Kinesin 1 components (KLC1/KIF5B) primarily regulate cilia length, LoF causes elongation, minimal effect on ciliated cells(PMID: 29445114).", "localization": "cilia, basal body, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Cilia length regulation", "reference": "30475797, 29445110", "complex_components": ["KIF5B", "PLEKHM2", "ZFYVE27"], "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000170759", "synonym": "KNS, KNS1, UKHC", "ortholog_mouse": "Kif5b", "ortholog_c_elegans": "unc-116", "ortholog_xenopus": "kif5b", "ortholog_zebrafish": "kif5ba, kif5bb", "ortholog_drosophila": "Khc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.1032, "sd_percent_ciliated": 1.5178, "z_score": -0.2309, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.708, "sd_percent_ciliated": 0.708, "z_score": 0.708, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0591, "sd_percent_ciliated": 1.0591, "z_score": 1.0591, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF5C", "ensembl_id": "ENSG00000276734", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "kinesin family member 5C [Source:HGNC Symbol;Acc:HGNC:6325]", "omim_id": "604593", "functional_summary": "LoF of KIF5C did not change cilia length and ciliation (PMID: 29445114).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Cilia length regulation", "reference": "29445114, https://www.proteinatlas.org/ ,29445114", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276734", "synonym": "NKHC2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kif5c", "ortholog_c_elegans": "unc-116", "ortholog_xenopus": "kif5c", "ortholog_zebrafish": "kif5c", "ortholog_drosophila": "Khc", "screens": [] }, { "gene": "KIF6", "ensembl_id": "ENSG00000164627", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 6 [Source:HGNC Symbol,Acc:HGNC:21202]", "omim_id": "613919", "functional_summary": "Mediator of ciliogenesis and normal cilia beating in ependmal cells in vertebrates. Mutations are reported to be associated with neurological abnormalities in humans (30475797).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "24981634, 24952464, 19592253, 31031197", "complex_components": {}, "pfam_ids": ["PF00225", "PF23735"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Kinesin-like protein KIF6/9", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000164627", "synonym": "C6ORF102, DJ1043E3.1, DJ137F1.4, DJ188D3.1, DKFZP451I2418, MGC33317", "ortholog_mouse": "Kif6", "ortholog_xenopus": "kif6", "ortholog_zebrafish": "kif6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8035, "sd_percent_ciliated": -0.8035, "z_score": -0.8035, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF7", "ensembl_id": "ENSG00000166813", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 7 [Source:HGNC Symbol,Acc:HGNC:30497]", "omim_id": "611254", "functional_summary": "Negative regulator of Hedgehog sig lling at cilia in mammals by controlling the activity of Gli and Sufu. Controls the localization of Hh sig ling complexes through its ability to regulate the dy mics of microtubule plus- ends. It inhibits microtubule growth to regulate the length of axonemal at the ciliary tip and control cilia structure (24981634, 24952464, 19592253). A conserved non- motile kinesin, Kif7 defines a cilium-tip compartment by localizing to the distal ends of axonemal , preferentially binds GTP- tubulin at microtubule ends over GDP-tubulin in the mature microtubule lattice (31031197). Using Arl13b as a cilia marker 25, wild-type MEF cilia were 2.80±0.47 µm in length, whereas mutant cilia were 3.58±1.14 µm and 3.46±1.10 µm in Kif7L130P and Kif7−/− MEFs, respectively. Thus Kif7 mutant cilia were ~30% longer, on average, and more variable in length, than wild type (PMID: 24952464).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29042452, 21552264, 22587682, 21633164 , 24952464 ,21552264; 22587682; 21633164", "complex_components": {}, "pfam_ids": "PF00225", "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000166813", "synonym": "JBTS12", "ciliopathy": "Acrocallosal Syndrome; Al-Gazali-Bakalinova Syndrome; Hydrolethalus Syndrome; Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Kif7", "ortholog_xenopus": "kif7", "ortholog_zebrafish": "kif7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 34.2, "sd_percent_ciliated": 34.2, "z_score": 34.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7157, "sd_percent_ciliated": -2.7157, "z_score": -2.7157, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIF9", "ensembl_id": "ENSG00000088727", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member 9 [Source:HGNC Symbol,Acc:HGNC:16666]", "omim_id": "607910", "functional_summary": "Kif9 is necessary for ciliary motility and the proper distal localization of not only central pair proteins, but also radial spokes and dynein arms (35531639). Kif9 is integral for ciliary beating and is necessary for proper axonemal distal end integrity.(PMID: 35531639)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.5531639E7", "complex_components": {}, "pfam_ids": ["PF23735", "PF00225"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Kinesin-like protein KIF6/9", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000088727", "synonym": "MGC104186", "ortholog_mouse": "Kif9", "ortholog_xenopus": "kif9", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.8248, "sd_percent_ciliated": 9.8881, "z_score": 0.0988, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4628, "sd_percent_ciliated": 0.4628, "z_score": 0.4628, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIFAP3", "ensembl_id": "ENSG00000075945", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin associated protein 3 [Source:HGNC Symbol,Acc:HGNC:17060]", "omim_id": "601836", "functional_summary": "KIFAP3 has localized in basal body.", "localization": "basal body, Centrosome, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF05804", "domain_descriptions": ["Armadillo", "Kinesin-associated protein 3", "Armadillo-like helical", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000075945", "synonym": "FLA3, KAP-1, KAP3, SMAP", "ortholog_mouse": "Kifap3", "ortholog_c_elegans": "kap-1", "ortholog_xenopus": "kifap3", "ortholog_zebrafish": "kifap3a, kifap3b", "ortholog_drosophila": "Kap3", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.9983, "z_score": -1.7127, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.4066, "z_score": -2.375, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.3245 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 146, "z_score": 146, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 146 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7172, "z_score": -3.7172, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.7172 } ] }, { "gene": "KIFC1", "ensembl_id": "ENSG00000237649", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member C1 [Source:HGNC Symbol,Acc:HGNC:6389]", "omim_id": "603763", "functional_summary": "Required for ciliary membrane protein transport and serum starvation鈥搃nduced ciliogenesis. Role in the Golgi transport of membrane proteins from the Golgi complex to the primary cilium and in the recruitment of ciliogenesis regulators and mainte nce. Required for TTBK2 recruitment and CP110 removal from the distal end of the mother centriole to iniciate cilium assembly (29042452).", "localization": "cilia,basal body, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Ciliary membrane", "reference": "2.4982149E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000237649", "synonym": "HSET, KNSL2", "ortholog_mouse": "Kifc1, Kifc5b", "ortholog_c_elegans": "klp-15, klp-16, klp-17", "ortholog_xenopus": "kifc1", "ortholog_zebrafish": "kifc1", "ortholog_drosophila": "ncd", "screens": {} }, { "gene": "KIFC3", "ensembl_id": "ENSG00000140859", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "kinesin family member C3 [Source:HGNC Symbol,Acc:HGNC:6326]", "omim_id": "604535", "functional_summary": "KIFC3 is a minus-end-directed kinesin-14, provides microtubule-based centrosome cohesion. KIFC3 forms a homotetramer that pulls the two centrosomes together via a specific microtubule network. At mitotic onset, KIFC3 activity becomes the main driving force of centrosome cohesion to prevent premature spindle formation after linker dissolution as it counteracts the increasing EG5-driven pushing forces (31481795).", "localization": "cilia, basal body, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "3.1481795E7", "complex_components": {}, "pfam_ids": ["PF00225", "PF16796"], "domain_descriptions": ["Kinesin motor domain", "Kinesin motor domain", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin-like protein", "Kinesin motor domain superfamily", "Spindle pole body-associated protein Vik1/Cik1", "microtubule binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000140859", "ortholog_mouse": "Kifc3", "ortholog_c_elegans": "klp-3", "ortholog_xenopus": "kifc3", "ortholog_zebrafish": "kifc3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.2143, "sd_percent_ciliated": 1.7173, "z_score": 0.2672 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.94, "sd_percent_ciliated": 2.94, "z_score": 2.94 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.2125, "sd_percent_ciliated": -6.2125, "z_score": -6.2125 } ] }, { "gene": "KISS1R", "ensembl_id": "ENSG00000116014", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "KISS1 receptor [Source:HGNC Symbol,Acc:HGNC:4510]", "omim_id": "604161", "functional_summary": "Ciliary receptor which plays a role in reproductive function. Cilia are required for proper Kiss1r-mediated sig ling on GnRH neurons", "localization": "basal body ,cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4680887E7", "complex_components": ["GNRHR", "KISS1R", "GPER1", "NPFFR1", "TACR2"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "KiSS-1 peptide receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000116014", "synonym": "AXOR12, GPR54, HOT7T175", "ortholog_mouse": "Kiss1r", "ortholog_c_elegans": "npr-9", "ortholog_xenopus": "kiss1r, kissr2", "ortholog_zebrafish": "kiss1ra, kiss1rb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.8939, "sd_percent_ciliated": -5.8939, "z_score": -5.8939, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KIZ", "ensembl_id": "ENSG00000088970", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "kizuna centrosomal protein [Source:HGNC Symbol,Acc:HGNC:15865]", "omim_id": "615757", "functional_summary": "Interacts with PLK1 in order to protect the centrosome from collapsing during spindle formation in mitosis. KIZ might have a critical role in this trafficking process. Mutations lead to autosomal- recessive Rod-Cone Dystrophy (24680887). We found that 97.4 ± 3.6 % and 96.9 ± 0.9 % of cells were ciliated in controls and patients, respectively, and mean ciliary length was 4.6 ± 0.9 µm (control) versus 4.3 ± 0.1 µm (patient). No significant difference was evident in these parameters. (24680887)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "29445114, 24680887", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000088970", "synonym": "C20ORF19, HT013, NCRNA00153, PLK1S1", "ortholog_mouse": "Kiz", "ortholog_xenopus": "kiz", "ortholog_zebrafish": "kiz", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.55, "sd_percent_ciliated": 2.55, "z_score": 2.55, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KLB", "ensembl_id": "ENSG00000134962", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "klotho beta [Source:HGNC Symbol,Acc:HGNC:15527]", "omim_id": "611135", "functional_summary": "KLB localized to flagella (25613900)", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": ["FGF21", "FGFR1", "KLB", "FGF19", "FGFR4"], "pfam_ids": "PF00232", "domain_descriptions": ["Glycoside hydrolase family 1", "Glycoside hydrolase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000134962", "ortholog_mouse": "Klb", "ortholog_c_elegans": "klo-1, klo-2", "ortholog_xenopus": "klb", "ortholog_zebrafish": "klb", "ortholog_drosophila": "CG9701", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0328, "sd_percent_ciliated": -0.0328, "z_score": -0.0328, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KLC1", "ensembl_id": "ENSG00000126214", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "kinesin light chain 1 [Source:HGNC Symbol,Acc:HGNC:6387]", "omim_id": "600025", "functional_summary": "Interacts with CCDC28B to regulate cilia length. Regulation the sub-cellular distribution of CCDC28B by loading CCDC28B onto KIF5B-based motors at the pericentriolar region (29445114).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "29673930, 21606596, 18826961,29445114", "complex_components": ["KLC1", "RAB27A", "SYTL3"], "pfam_ids": ["PF13424", "PF13374"], "domain_descriptions": ["Kinesin light chain", "Tetratricopeptide-like helical domain superfamily", "Kinesin light chain repeat", "Tetratricopeptide repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000126214", "synonym": "HKLC1B, HKLC1G, HKLC1J, HKLC1N, HKLC1P, HKLC1R, HKLC1S, KLC, KNS2, KNS2A", "ortholog_mouse": "Klc1", "ortholog_c_elegans": "klc-1, klc-2", "ortholog_xenopus": "klc1", "ortholog_zebrafish": "klc1a, klc1b", "ortholog_drosophila": "Klc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.22, "sd_percent_ciliated": 6.22, "z_score": 6.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6904, "sd_percent_ciliated": -0.6904, "z_score": -0.6904, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KLC3", "ensembl_id": "ENSG00000104892", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "kinesin light chain 3 [Source:HGNC Symbol,Acc:HGNC:20717]", "omim_id": "601334", "functional_summary": "CILK1 deficiency in a mouse model leads to polycystic kidney disease (PKD) with abnormal ciliary trafficking and that kinesin light chain鈥", "localization": "basal body, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.5961787E7", "complex_components": ["HOOK2", "KLC3", "LRGUK", "RIMBP3"], "pfam_ids": ["PF13424", "PF13374"], "domain_descriptions": ["Kinesin light chain", "Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000104892", "synonym": "KLC2L, KLCT, KNS2B", "ortholog_mouse": "Klc3", "ortholog_c_elegans": "klc-2", "ortholog_zebrafish": "klc3", "ortholog_drosophila": "Klc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.38, "sd_percent_ciliated": 6.38, "z_score": 6.38, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0155, "sd_percent_ciliated": 0.0155, "z_score": 0.0155, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KLF4", "ensembl_id": "ENSG00000136826", "overexpression_effects": "Shorter cilia", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "KLF transcription factor 4 [Source:HGNC Symbol,Acc:HGNC:6348]", "omim_id": "602253", "functional_summary": "KLF4 plays important roles for maintaining osteoblasts in an immature state by repressing basal activation of the Hedgehog sig ling ( 30193838). KLF4 supports the formation and maintenance of cilia in cultured osteoblasts; however, the length of the cilia observed in KLF4-induced cells were significantly shorter compared to control cells. (30193838)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3.0193838E7", "complex_components": {}, "pfam_ids": "PF00096", "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000136826", "synonym": "EZF, GKLF", "ortholog_mouse": "Klf4", "ortholog_xenopus": "klf4", "ortholog_zebrafish": "klf4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.7039, "sd_percent_ciliated": 1.1879, "z_score": -0.1582, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.25, "sd_percent_ciliated": 3.25, "z_score": 3.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5952, "sd_percent_ciliated": -3.5952, "z_score": -3.5952, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KLHL10", "ensembl_id": "ENSG00000161594", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "kelch like family member 10 [Source:HGNC Symbol,Acc:HGNC:18829]", "omim_id": "608778", "functional_summary": "KLHL10 has localized in flagella.", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00651", "PF01344", "PF07707"], "domain_descriptions": ["BTB/POZ domain", "SKP1/BTB/POZ domain superfamily", "Kelch-like protein 10", "BTB/POZ domain", "Kelch repeat type 1", "BTB/Kelch-associated", "Kelch-type beta propeller", "BTB-kelch protein"], "string_link": "https://string-db.org/network/9606/ENSG00000161594", "synonym": "FLJ32662", "ortholog_mouse": "Klhl10", "ortholog_c_elegans": "kel-10", "ortholog_xenopus": "klhl10", "ortholog_zebrafish": "klhl10a, klhl10b.1", "ortholog_drosophila": "klhl10", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.3968, "sd_percent_ciliated": 6.218, "z_score": -1.1646 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.97, "sd_percent_ciliated": 2.97, "z_score": 2.97 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0354, "sd_percent_ciliated": -0.0354, "z_score": -0.0354 } ] }, { "gene": "KLHL4", "ensembl_id": "ENSG00000102271", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "kelch like family member 4 [Source:HGNC Symbol,Acc:HGNC:6355]", "omim_id": "300348", "functional_summary": "KLHL4 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00651", "PF07707", "PF24981"], "domain_descriptions": ["BTB/POZ domain", "Kelch repeat type 1", "SKP1/BTB/POZ domain superfamily", "BTB/Kelch-associated", "Kelch-type beta propeller", "Attractin/MKLN-like", "beta-propeller domain", "Galactose oxidase", "central domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000102271", "synonym": "DKELCHL, KHL4, KIAA1687", "ortholog_mouse": "Klhl4", "ortholog_xenopus": "klhl4", "ortholog_zebrafish": "klhl4", "ortholog_drosophila": "CG17754", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.087, "sd_percent_ciliated": 8.7158, "z_score": 0.8575 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.68, "sd_percent_ciliated": 1.68, "z_score": 1.68 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.519, "sd_percent_ciliated": -0.519, "z_score": -0.519 } ] }, { "gene": "KLHL7", "ensembl_id": "ENSG00000122550", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "kelch like family member 7 [Source:HGNC Symbol,Acc:HGNC:15646]", "omim_id": "611119", "functional_summary": "Mutations in the KLHL7 gene cause Retinitis Pigmentosa (PMID: 19520207, PMID:22084217).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "19520207, 22084217", "complex_components": ["CUL3", "KLHL7", "RBX1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000122550", "synonym": "KLHL6, RP42, SBBI26", "ortholog_mouse": "Klhl6, Klhl7", "ortholog_xenopus": "klhl6, klhl7", "ortholog_zebrafish": "klhl6, klhl7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.1375, "sd_percent_ciliated": 6.7491, "z_score": -0.1056, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 10.9, "sd_percent_ciliated": 10.9, "z_score": 10.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4604, "sd_percent_ciliated": 0.4604, "z_score": 0.4604, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KMT2E", "ensembl_id": "ENSG00000005483", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "lysine methyltransferase 2E (inactive) [Source:HGNC Symbol,Acc:HGNC:18541]", "omim_id": "608444", "functional_summary": "In vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro(PMID: 40552535). Repression of ASD-CHD genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3, TAOK1) results in a decrease in percent ciliated cells. (39131273)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "40552535, 39131273", "complex_components": ["KMT2E", "OGT", "USP7"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000005483", "synonym": "HDCMC04P, MLL5, SETD5B", "ortholog_mouse": "Kmt2e", "ortholog_c_elegans": "set-28", "ortholog_xenopus": "kmt2e", "ortholog_zebrafish": "kmt2e", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.253, "sd_percent_ciliated": 0.253, "z_score": 0.253, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KMT5B", "ensembl_id": "ENSG00000110066", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Reduced", "description": "lysine methyltransferase 5B [Source:HGNC Symbol,Acc:HGNC:24283]", "omim_id": "610881", "functional_summary": "KMT5B has localized in cilia. Knocking down KMT5B resulted in fewer and shorter cilia and impaired the formation of multiciliated cell tufts, indicating that the catalytic activity of KMT5B is required for proper ciliogenesis. (https://doi.org/10.1101/2025.03.18.644017) MCC precursor cells … ultimately fail in ciliogenesis because of perturbation of cytoplasmic processes (GeneTools)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00856", "domain_descriptions": ["SET domain", "Suv4-20 family", "animal", "Histone-lysine N-methyltransferase Suv4-20/Set9", "Histone-lysine N-methyltransferase", "N-terminal domain", "KMT5B ", "SET domain", "SET domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000110066", "synonym": "CGI-85, SUV420H1", "ortholog_mouse": "Kmt5b", "ortholog_c_elegans": "set-4", "ortholog_xenopus": "kmt5b", "ortholog_zebrafish": "kmt5b", "ortholog_drosophila": "Hmt4-20", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.22, "sd_percent_ciliated": 1.22, "z_score": 1.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "KNCN", "ensembl_id": "ENSG00000162456", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "kinocilin [Source:HGNC Symbol,Acc:HGNC:26488]", "omim_id": "611455", "functional_summary": "KNCN was a protein mainly located in the kinocilium of hair cells in the inner ear.KNCN is not essential for kinocilium-oriented hair bundle function in cochlear hair cells(PMID: 30254566).Kinocilin co-localizes with tubulins in bundled microtubular structures such as that found in the pericuticular necklace at the apex of the sensory cells.At earlier stages of spermiogenesis, kinocilin immunoreactivity was localized to the manchette of the elongating spermatid (PMID: 15855039). Deletion of Kncn does not affect kinocilium‐oriented hair bundle function in cochlear hair cells. Kinocilia was developed normally at this age in Kncn knockout mice. (30254566)", "localization": "cilia, basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "15855039 , 30254566, https://doi.org/10.1101/2025.03.18.644017", "complex_components": {}, "pfam_ids": "PF15033", "domain_descriptions": "Kinocilin protein", "string_link": "https://string-db.org/network/9606/ENSG00000162456", "synonym": "FLJ32011, KINO, L5", "ortholog_mouse": "Kncn", "ortholog_zebrafish": "kncn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0003, "sd_percent_ciliated": 0.0003, "z_score": 0.0003, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0025, "sd_percent_ciliated": -2.0025, "z_score": -2.0025, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KRAS", "ensembl_id": "ENSG00000133703", "overexpression_effects": "Not Reported", "lof_effects": "Increased cilia formation", "percent_ciliated_cells_effects": "Reduced", "description": "KRAS proto-oncogene, GTPase [Source:HGNC Symbol,Acc:HGNC:6407]", "omim_id": "190070", "functional_summary": "Inhibition of Kras effector pathways restored ciliogenesis in a mouse pancreatic cancer cell line, raising the possibility that ciliogenesis may be actively repressed by oncogenic Kras ( 19147554). Constitutive activation of KRAS promotes acinar-to-ductal metaplasia (ADM) but is associated with fewer primary cilia, and KRAS knockdown significantly increased cilia formation, suggesting that KRAS signalling suppresses ciliogenesis during ADM. (32571902)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "19147554, 32571902", "complex_components": ["KRAS", "PPP1CC", "SHOC2", "SOS1", "PDE6D", "GPR31", "AGO2", "RNF141"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "Small GTPase", "Ras-type", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000133703", "synonym": "K-RAS4B, KRAS1, KRAS2", "ortholog_mouse": "Kras", "ortholog_c_elegans": "let-60", "ortholog_xenopus": "kras", "ortholog_zebrafish": "kras", "ortholog_drosophila": "Ras85D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 19.6, "sd_percent_ciliated": 19.6, "z_score": 19.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0761, "sd_percent_ciliated": -6.0761, "z_score": -6.0761, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KRT18", "ensembl_id": "ENSG00000111057", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 18 [Source:HGNC Symbol,Acc:HGNC:6430]", "omim_id": "148070", "functional_summary": "KRT18 have interactions of with BBS proteins and KRT18 localize , at least partially, with g-tubulin within centrosomes (18000879). ,", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "1.8000879E7", "complex_components": {}, "pfam_ids": "PF00038", "domain_descriptions": ["Keratin", "type I", "Intermediate filament protein", "conserved site", "Intermediate filament", "rod domain"], "string_link": "https://string-db.org/network/9606/ENSG00000111057", "ortholog_mouse": "Krt18", "ortholog_xenopus": "krt18", "ortholog_zebrafish": "krt18a.1, krt18a.2, krt18b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.4434, "sd_percent_ciliated": 0.8522, "z_score": -0.6743 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.31, "sd_percent_ciliated": 1.31, "z_score": 1.31 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.3436, "sd_percent_ciliated": 1.3436, "z_score": 1.3436 } ] }, { "gene": "KRT31", "ensembl_id": "ENSG00000094796", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 31 [Source:HGNC Symbol,Acc:HGNC:6448]", "omim_id": "601077", "functional_summary": "KRT31 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000094796", "synonym": "HA-1, KRTHA1", "ortholog_mouse": "Krt31, Krt34", "ortholog_xenopus": "krt34", "ortholog_zebrafish": "krt18a.2, krt99, wu:fk65c09", "screens": {} }, { "gene": "KRT33A", "ensembl_id": "ENSG00000292027", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 33A [Source:HGNC Symbol,Acc:HGNC:6450]", "omim_id": "602761", "functional_summary": "KRT33A has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292027", "synonym": "HA-3I, KRT1-3, KRTHA3A", "ortholog_mouse": "Krt31, Krt33a, Krt33b, Krt34", "ortholog_xenopus": "krt34", "ortholog_zebrafish": "krt18a.2, lmnl3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.756, "sd_percent_ciliated": 0.756, "z_score": 0.756, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5463, "sd_percent_ciliated": -2.5463, "z_score": -2.5463, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KRT33B", "ensembl_id": "ENSG00000263012", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 33B [Source:HGNC Symbol,Acc:HGNC:6451]", "omim_id": "602762", "functional_summary": "KRT33B has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000263012", "synonym": "HA-3II, KRTHA3B", "ortholog_mouse": "Krt33b, Krt34", "ortholog_xenopus": "krt34", "ortholog_zebrafish": "cyt1, cyt1l, krt15, krt17, krt91, krt92, krt96, krt97", "screens": {} }, { "gene": "KRT34", "ensembl_id": "ENSG00000292033", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 34 [Source:HGNC Symbol,Acc:HGNC:6452]", "omim_id": "602763", "functional_summary": "Regarding protein KRT34, staining was observed in the cytoplasm and the base of the cilia (31835165).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "31835165, 31835165 ,31835165", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292033", "synonym": "HA-4, KRTHA4", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Krt34", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9316, "sd_percent_ciliated": 1.9316, "z_score": 1.9316, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KRT39", "ensembl_id": "ENSG00000262164", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 39 [Source:HGNC Symbol,Acc:HGNC:32971]", "omim_id": "616678", "functional_summary": "KRT39 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000262164", "synonym": "KA35", "ortholog_mouse": "Krt39", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.69, "sd_percent_ciliated": 2.69, "z_score": 2.69, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0949, "sd_percent_ciliated": -1.0949, "z_score": -1.0949, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "KRT5", "ensembl_id": "ENSG00000186081", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "keratin 5 [Source:HGNC Symbol,Acc:HGNC:6442]", "omim_id": "148040", "functional_summary": "The loss of ciliated cells was compensated by the cells which contained the KRT5 basal cell marker but were not yet differentiated into ciliated cells ( 28004801).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.8004801E7", "complex_components": ["BCHE", "KRT5"], "pfam_ids": ["PF16208", "PF00038"], "domain_descriptions": ["Keratin", "type II", "Intermediate filament protein", "conserved site", "Keratin type II head", "Intermediate filament", "rod domain"], "string_link": "https://string-db.org/network/9606/ENSG00000186081", "synonym": "CK-5, EBS2, KRT5A", "ortholog_mouse": "Krt5", "ortholog_c_elegans": "ifc-1, ifc-2", "ortholog_xenopus": "krt61, krt78.9", "ortholog_zebrafish": "krt5", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.2555, "z_score": 0.24, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 45.6957, "z_score": 0.9313, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.4683 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.99, "z_score": 1.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.99 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2976, "z_score": -2.2976, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.2976 } ] }, { "gene": "LAMA1", "ensembl_id": "ENSG00000101680", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "laminin subunit alpha 1 [Source:HGNC Symbol,Acc:HGNC:6481]", "omim_id": "150320", "functional_summary": "Mutations in the LAMA1 gene cause Joubert Syndrome (PMID: 34423300).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Cardiac & muscle development", "reference": "3.44233E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101680", "synonym": "LAMA", "ortholog_mouse": "Lama1", "ortholog_c_elegans": "lam-3", "ortholog_xenopus": "lama1", "ortholog_zebrafish": "lama1", "ortholog_drosophila": "wb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.3493, "sd_percent_ciliated": 7.9913, "z_score": 0.7681 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.859, "sd_percent_ciliated": 0.859, "z_score": 0.859 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0598, "sd_percent_ciliated": -3.0598, "z_score": -3.0598 } ] }, { "gene": "LANCL1", "ensembl_id": "ENSG00000115365", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "LanC like glutathione S-transferase 1 [Source:HGNC Symbol,Acc:HGNC:6508]", "omim_id": "604155", "functional_summary": "LANCL1 localized at cilia", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF05147", "domain_descriptions": ["Lanthionine synthetase C-like", "Six-hairpin glycosidase-like superfamily", "LanC-like protein", "eukaryotic"], "string_link": "https://string-db.org/network/9606/ENSG00000115365", "synonym": "GPR69A, P40", "ortholog_mouse": "Lancl1", "ortholog_xenopus": "lancl1", "ortholog_zebrafish": "lancl1", "ortholog_drosophila": "CG2061", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.038, "sd_percent_ciliated": 4.9863, "z_score": -0.6023, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.55, "sd_percent_ciliated": 4.55, "z_score": 4.55, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6907, "sd_percent_ciliated": -2.6907, "z_score": -2.6907, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LAP3", "ensembl_id": "ENSG00000002549", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine aminopeptidase 3 [Source:HGNC Symbol,Acc:HGNC:18449]", "omim_id": "170250", "functional_summary": "LAP3 has localized in flagella.", "localization": "flagella, Nucleus, Mitochondria", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF02789", "PF00883"], "domain_descriptions": ["Peptidase M17", "leucyl aminopeptidase", "C-terminal", "Peptidase M17", "leucyl aminopeptidase", "N-terminal", "Peptidase M17", "leucine aminopeptidase/peptidase B", "Peptidase M17", "leucine aminopeptidase", "Macro domain-like"], "string_link": "https://string-db.org/network/9606/ENSG00000002549", "synonym": "LAP, LAPEP, PEPS", "ortholog_mouse": "Lap3", "ortholog_xenopus": "lap3", "ortholog_zebrafish": "lap3", "ortholog_drosophila": "loopin-1, S-Lap1, S-Lap2, S-Lap3, S-Lap4, S-Lap5, S-Lap7, S-Lap8", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.3563, "z_score": 0.5837, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.8871, "z_score": 2.7718, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.9917 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.12, "z_score": 1.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.12 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9667, "z_score": -1.9667, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.9667 } ] }, { "gene": "LARP6", "ensembl_id": "ENSG00000166173", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "La ribonucleoprotein 6, translational regulator [Source:HGNC Symbol,Acc:HGNC:24012]", "omim_id": "611300", "functional_summary": "The binding of LARP6 and D AF6 in dynein axonemal particles regulates highly expressed α-tubulin protein near the apical side of Xenopus MCCs during ciliogenesis. Knockdown of LARP6 in Xenopus embryos resulted in neural tube closure defects that were coincident with the absence of cilia. The absence of cilia at the epidermis was also observed in LARP6 morphants, and this defect was due to the absence of basal bodies at the apical cell surface. (28344782)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "38762183, 28344782", "complex_components": {}, "pfam_ids": ["PF05383", "PF12901"], "domain_descriptions": ["Lupus La protein", "La-type HTH domain", "Nucleotide-binding alpha-beta plait domain superfamily", "SUZ-C domain", "La-related protein 6", "RNA recognition motif", "RNA-binding domain superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "La domain containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000166173", "synonym": "ACHERON, FLJ11196", "ortholog_mouse": "Larp6", "ortholog_xenopus": "larp6", "ortholog_zebrafish": "larp6a, larp6b", "ortholog_drosophila": "Achl", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.5455, "sd_percent_ciliated": 2.5455, "z_score": 2.5455, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LAS1L", "ensembl_id": "ENSG00000001497", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "LAS1 like ribosome biogenesis factor [Source:HGNC Symbol,Acc:HGNC:25726]", "omim_id": "300964", "functional_summary": "LAS1L has localized in basal body, transition zone.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ASH2L", "BAP18", "CHD8", "E2F6", "HCFC1", "HSPA4", "INO80C", "KANSL1", "KAT8", "KMT2A", "LAS1L", "MCRS1", "MGAM", "PELP1", "PHF20", "PRPF31", "RBBP5", "RNF2", "RUVBL1", "SENP3", "TAF1", "TAF4", "TAF6", "TAF7", "TAF9", "TEX10", "WDR5", "WDR18", "NOL9", "MDN1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000001497", "synonym": "FLJ12525, LAS1", "ortholog_mouse": "Las1l", "ortholog_c_elegans": "Y6B3B.9", "ortholog_xenopus": "las1l", "ortholog_zebrafish": "las1l", "ortholog_drosophila": "CG32075", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.87, "sd_percent_ciliated": 7.87, "z_score": 7.87, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4069, "sd_percent_ciliated": -1.4069, "z_score": -1.4069, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LATS1", "ensembl_id": "ENSG00000131023", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "large tumor suppressor kinase 1 [Source:HGNC Symbol,Acc:HGNC:6514]", "omim_id": "603473", "functional_summary": "In wild-type (Lats1+/+) MEFs, Lats1 colocalized with γ-tubulin, a component of the pericentriolar material (PCM) that accumulated substantially at the basal bodys (corresponding to mature basal bodys) during late G2 phase, metaphase and a /telophase (26530630).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.653063E7", "complex_components": ["HTRA2", "LATS1", "XIAP", "NPHP4", "PCBP2", "SAV1", "STK3", "STK4", "PCBP1"], "pfam_ids": ["PF00433", "PF00069", "PF00627"], "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "UBA-like superfamily", "Protein kinase-like domain superfamily", "Ubiquitin-associated domain", "Protein kinase", "C-terminal", "Serine/threonine-protein kinase LATS1", "catalytic domain", "Serine/threonine-protein kinase ", "Mob-binding domain", "Serine/threonine-protein kinases", "AGC"], "string_link": "https://string-db.org/network/9606/ENSG00000131023", "synonym": "WARTS", "ortholog_mouse": "Lats1", "ortholog_c_elegans": "T24D5.4, wts-1", "ortholog_xenopus": "lats1", "ortholog_zebrafish": "lats1", "ortholog_drosophila": "wts", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.1361, "sd_percent_ciliated": 3.0671, "z_score": -0.1058 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0869, "sd_percent_ciliated": 0.0869, "z_score": 0.0869 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5664, "sd_percent_ciliated": -3.5664, "z_score": -3.5664 } ] }, { "gene": "LATS2", "ensembl_id": "ENSG00000150457", "overexpression_effects": "Not Reported", "lof_effects": "No necessary effect", "percent_ciliated_cells_effects": "Not Reported", "description": "large tumor suppressor kinase 2 [Source:HGNC Symbol,Acc:HGNC:6515]", "omim_id": "604861", "functional_summary": "S83 of Lats2 is a phosphorylation target of Aurora-A and this phosphorylation plays a role of the centrosomal localization of Lats2 (15147269). LATS1/2 is dispensable for serum starvation-mediated ciliogenesis. (25849865)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15147269, 25849865", "complex_components": ["LATS2", "SIAH2", "ZYX", "AJUBA", "AR"], "pfam_ids": ["PF00069", "PF00433"], "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "UBA-like superfamily", "Protein kinase-like domain superfamily", "Ubiquitin-associated domain", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "Serine/threonine-protein kinases", "AGC", "Rho-associated Serine/Threonine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000150457", "ortholog_mouse": "Lats2", "ortholog_c_elegans": "T24D5.4, wts-1", "ortholog_xenopus": "lats2", "ortholog_zebrafish": "lats2", "ortholog_drosophila": "wts", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.6966, "z_score": -1.6185, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.9039, "z_score": -2.1936, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.3955 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.243, "z_score": 0.243, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.243 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8006, "z_score": -0.8006, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.8006 } ] }, { "gene": "LCA5", "ensembl_id": "ENSG00000135338", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lebercilin LCA5 [Source:HGNC Symbol,Acc:HGNC:31923]", "omim_id": "611408", "functional_summary": "Essential for the trafficking of proteins and vesicles to the photoreceptor outer segment. Mutations cause reti l degeneration, including cone dystrophy and autosomal recessive retinitis pigmentosa (29673930, 21606596, 18826961). Interacts with a nearly complete IFT complex B particle, as well as with some IFT complex A proteins (21606596).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "32496561, 12642313 ,12642313", "complex_components": ["DCTN1", "DCTN2", "HSPA1A", "LCA5", "NCL", "NPM1", "YWHAE"], "pfam_ids": "PF15619", "domain_descriptions": ["Lebercilin-like", "Lebercilin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000135338", "synonym": "C6ORF152", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lca5", "ortholog_xenopus": "lca5, LOC100497171", "ortholog_zebrafish": "lca5", "ortholog_drosophila": "CG6652", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0044, "sd_percent_ciliated": -0.0044, "z_score": -0.0044, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LCA5L", "ensembl_id": "ENSG00000157578", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lebercilin LCA5 like [Source:HGNC Symbol,Acc:HGNC:1255]", "functional_summary": "LCA5L has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15619", "domain_descriptions": ["Lebercilin-like", "Lebercilin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000157578", "synonym": "C21ORF13, MGC33295", "ortholog_mouse": "Lca5l", "ortholog_drosophila": "CG6652", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.01, "sd_percent_ciliated": 1.01, "z_score": 1.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0835, "sd_percent_ciliated": -1.0835, "z_score": -1.0835, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LCTL", "ensembl_id": "ENSG00000188501", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lactase like [Source:HGNC Symbol,Acc:HGNC:15583]", "omim_id": "617060", "functional_summary": "The klotho-related protein KLPH (lctl) has preferred expression in lens and is essential for expression of clic5 and normal lens suture formation ( 29425878).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.9425878E7", "complex_components": {}, "pfam_ids": "PF00232", "domain_descriptions": ["Glycoside hydrolase family 1", "Glycoside hydrolase superfamily", "Glycoside hydrolase family 1", "active site", "Glycosyl hydrolases family 1", "N-terminal conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000188501", "synonym": "FLJ33279, KLG, KLPH", "ortholog_mouse": "Lctl", "ortholog_c_elegans": "klo-1, klo-2", "ortholog_xenopus": "lctl", "ortholog_zebrafish": "lctla, lctlb", "ortholog_drosophila": "CG9701", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6963, "sd_percent_ciliated": -3.6963, "z_score": -3.6963, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LDHC", "ensembl_id": "ENSG00000166796", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lactate dehydrogenase C [Source:HGNC Symbol,Acc:HGNC:6544]", "omim_id": "150150", "functional_summary": "LDHC has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00056", "PF02866"], "domain_descriptions": ["Lactate/malate dehydrogenase", "N-terminal", "L-lactate/malate dehydrogenase", "L-lactate dehydrogenase", "Lactate dehydrogenase/glycoside hydrolase", "family 4", "C-terminal", "L-lactate dehydrogenase", "active site", "Lactate/malate dehydrogenase", "C-terminal", "NAD(P)-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000166796", "synonym": "CT32", "ortholog_mouse": "Ldhc", "ortholog_c_elegans": "ldh-1", "ortholog_xenopus": "ldha", "ortholog_zebrafish": "ldha", "ortholog_drosophila": "Ldh", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.6902, "sd_percent_ciliated": 2.3578, "z_score": -0.0387, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5497, "sd_percent_ciliated": -0.5497, "z_score": -0.5497, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LDLRAD1", "ensembl_id": "ENSG00000203985", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "low density lipoprotein receptor class A domain containing 1 [Source:HGNC Symbol,Acc:HGNC:32069]", "functional_summary": "LDLRAD1 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00057", "domain_descriptions": ["Low-density lipoprotein (LDL) receptor class A repeat", "LDL receptor-like superfamily", "Low-density lipoprotein receptor"], "string_link": "https://string-db.org/network/9606/ENSG00000203985", "ortholog_mouse": "Ldlrad1", "ortholog_xenopus": "ldlrad1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.694, "sd_percent_ciliated": 0.694, "z_score": 0.694, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.321, "sd_percent_ciliated": -6.321, "z_score": -6.321, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LEF1", "ensembl_id": "ENSG00000138795", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lymphoid enhancer binding factor 1 [Source:HGNC Symbol,Acc:HGNC:6551]", "omim_id": "153245", "functional_summary": "Newborn kidneys contain normal amounts of lymphoid enhancer-binding factor 1 (Lef1) and transcription factor 1 (Tcf1) protein, indicating normal function of the Wnt sig ling pathway, however, an increase in the protein Gli3 repressor reveals abnormal Hedgehog (Hh) sig ling evident in newborn kidneys ( 24946806).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.4946806E7", "complex_components": ["CTNNB1", "EPCAM", "FHL2", "LEF1"], "pfam_ids": ["PF08347", "PF00505"], "domain_descriptions": ["High mobility group box domain", "CTNNB1 binding", "N-teminal", "Transcription factor TCF/LEF", "Catenin binding domain superfamily", "High mobility group box domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000138795", "synonym": "TCF10, TCF1ALPHA, TCF7L3", "ortholog_mouse": "Lef1", "ortholog_c_elegans": "pop-1", "ortholog_xenopus": "lef1", "ortholog_zebrafish": "lef1", "ortholog_drosophila": "pan", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.0288, "sd_percent_ciliated": 1.8275, "z_score": -0.4823, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9822, "sd_percent_ciliated": -2.9822, "z_score": -2.9822, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LEFTY1", "ensembl_id": "ENSG00000243709", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "left-right determination factor 1 [Source:HGNC Symbol,Acc:HGNC:6552]", "omim_id": "603037", "functional_summary": "Fgf4 was essential for the expression of lefty1, which is necessary for the asymmetric expression of southpaw and pitx2 in the lateral plate mesoderm, in the posterior notochord, and the expression of lefty2 and lefty1 in the left cardiac field ( 19481538).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "1.9481538E7", "complex_components": {}, "pfam_ids": ["PF00688", "PF00019"], "domain_descriptions": ["TGF-beta", "propeptide", "Transforming growth factor-beta", "C-terminal", "Left- Right determination factor", "Transforming growth factor-beta-related", "Transforming growth factor beta", "conserved site", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000243709", "synonym": "LEFTB, LEFTYB", "ortholog_mouse": "Lefty1", "ortholog_xenopus": "lefty1", "ortholog_zebrafish": "lft1, lft2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0529, "sd_percent_ciliated": 0.0529, "z_score": 0.0529, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.1139, "sd_percent_ciliated": 2.1139, "z_score": 2.1139, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LEFTY2", "ensembl_id": "ENSG00000143768", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "left-right determination factor 2 [Source:HGNC Symbol,Acc:HGNC:3122]", "omim_id": "601877", "functional_summary": "Randomized expression of asymmetric genes, such as Nodal, Lefty2, and Pitx2, in the LPM of Pierce1-null embryos, indicating that PIERCE1 functions at the initial step of LR specification ( 27305836).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7305836E7", "complex_components": {}, "pfam_ids": ["PF00688", "PF00019"], "domain_descriptions": ["TGF-beta", "propeptide", "Transforming growth factor-beta", "C-terminal", "Left- Right determination factor", "Transforming growth factor-beta-related", "Transforming growth factor beta", "conserved site", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000143768", "synonym": "EBAF, LEFTA, LEFTYA, TGFB4", "ortholog_mouse": "Lefty2", "ortholog_xenopus": "lefty1", "ortholog_zebrafish": "lft1, lft2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.282, "sd_percent_ciliated": 0.282, "z_score": 0.282, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.2695, "sd_percent_ciliated": -10.2695, "z_score": -10.2695, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LEP", "ensembl_id": "ENSG00000174697", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "leptin [Source:HGNC Symbol,Acc:HGNC:6553]", "omim_id": "164160", "functional_summary": "Treatment of N1 hypothalamic neuron cells with leptin stimulated cilia assembly via inhibition of the tumor suppressors PTEN and glycogen synthase ki se 3β (GSK3β). Induction of short cilia in the hypothalamus of adult mice increased food intake and decreased energy expenditure, leading to a positive energy balance. Mice with short hypothalamic cilia exhibited attenuated anorectic responses to leptin, insulin, and glucose, which indicates that leptin-induced cilia assembly is essential for sensing these satiety sig ls by hypothalamic neurons.( 24667636) . Leptin promotes cilium growth in hypothalamic neuronal cells by increasing intraflagellar transport gene transcription and F-actin rearrangement. (26041775) Neuronal cilia lengths were selectively reduced in hypothalami of obese mice with leptin deficiency and leptin resistance. Treatment of N1 hypothalamic neuron cells with leptin stimulated cilia assembly via inhibition of PTEN and GSK3β. (24667636)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation, Cilia length regulation", "reference": "24667636, 26041775", "complex_components": {}, "pfam_ids": "PF02024", "domain_descriptions": ["Leptin", "Four-helical cytokine-like", "core"], "string_link": "https://string-db.org/network/9606/ENSG00000174697", "synonym": "OB, OBS", "ortholog_mouse": "Lep", "ortholog_xenopus": "lep", "ortholog_zebrafish": "lepa, lepb", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.5329, "z_score": 0.951, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 62.4107, "z_score": 2.9564, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.9418 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.36, "z_score": 3.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.36 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2884, "z_score": -0.2884, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.2884 } ] }, { "gene": "LEPR", "ensembl_id": "ENSG00000116678", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leptin receptor [Source:HGNC Symbol,Acc:HGNC:6554]", "omim_id": "601007", "functional_summary": "BBS proteins are required for leptin receptor (LepR) sig ling in the hypothalamus. BBS1 protein physically interacts with the LepR and that loss of BBS proteins perturbs LepR trafficking (19150989). Immunocytochemistry for AC3 or the basal body marker 纬-tubulin in LEPR-EGFP鈥揺xpressing cells demonstrated that LEPR-EGFP localized to the 纬-tubulin鈥搒tained basal body (Figure 3A), which indicates that the leptin sig ling machinery is a tomically linked to cilia鈥揵asal body complexes(24667636) .", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "19150989 , 24667636", "complex_components": ["LEPR", "SNX1", "SNX2", "SNX4"], "pfam_ids": ["PF00041", "PF06328", "PF18589"], "domain_descriptions": ["Long hematopoietin receptor", "Gp130 family 2", "conserved site", "Short hematopoietin receptor", "family 1", "conserved site", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin C2-set-like", "ligand-binding", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Leptin receptor", "immunoglobulin-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000116678", "synonym": "CD295, OBR", "ortholog_mouse": "Lepr", "ortholog_xenopus": "lepr", "ortholog_zebrafish": "lepr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.1595, "sd_percent_ciliated": 0.5712, "z_score": -0.1029, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0493, "sd_percent_ciliated": 0.0493, "z_score": 0.0493, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1723, "sd_percent_ciliated": -2.1723, "z_score": -2.1723, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LEPROT", "ensembl_id": "ENSG00000213625", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leptin receptor overlapping transcript [Source:HGNC Symbol,Acc:HGNC:29477]", "omim_id": "613461", "functional_summary": "Immunocytochemistry for AC3 or the basal body marker γ-tubulin in LEPR-EGFP–expressing cells demonstrated that LEPR-EGFP localized to the γ-tubulin–stained basal body , which indicates that the leptin sig ling machinery is a tomically linked to cilia–basal body complexes (24667636).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4667636E7", "complex_components": {}, "pfam_ids": "PF04133", "domain_descriptions": "Vps55/LEPROT", "string_link": "https://string-db.org/network/9606/ENSG00000213625", "synonym": "FLJ90360, OB-RGRP, OBRGRP, VPS55", "ortholog_mouse": "Leprot", "ortholog_c_elegans": "C30B5.2", "ortholog_xenopus": "leprot", "ortholog_zebrafish": "leprot", "ortholog_drosophila": "CG30423", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.36, "sd_percent_ciliated": 1.36, "z_score": 1.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3528, "sd_percent_ciliated": -1.3528, "z_score": -1.3528, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LGALS3", "ensembl_id": "ENSG00000131981", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "galectin 3 [Source:HGNC Symbol,Acc:HGNC:6563]", "omim_id": "153619", "functional_summary": "Absence of galectin-3 influences the stabilization of centrosomes and primary cilia, with effects on epithelial cell organization(19923323). Mutant primary cilia are irregular, bent, twisted and longer than wild type primary cilia, indicating that Galectin-3 is essential for primary cilium growth.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "19923323, https://doi.org/10.1186/2046-2530-1-S1-P76", "complex_components": ["GEMIN2", "GEMIN4", "LGALS1", "LGALS3", "SMN1", "SNRPD1", "SNRPD2", "SNRPD3", "CSPG4", "ITGA3", "ITGB1"], "pfam_ids": "PF00337", "domain_descriptions": ["Galectin", "carbohydrate recognition domain", "Concanavalin A-like lectin/glucanase domain superfamily", "Galectin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000131981", "synonym": "GALIG, LGALS2, MAC-2", "ortholog_mouse": "Lgals2, Lgals3", "ortholog_c_elegans": "F46A8.3, F49F1.11, F49F1.18, F49F1.9, lec-1, lec-10, lec-3, lec-6, lec-7, lec-8, lec-9", "ortholog_xenopus": "lgals2, lgals3", "ortholog_zebrafish": "lgals2a, lgals2b, lgals3a, lgals3b", "ortholog_drosophila": "CG13950", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.9145, "z_score": 0.758, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.1576, "z_score": 2.1988, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.3116 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.38, "z_score": 1.38, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.38 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2262, "z_score": -1.2262, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.2262 } ] }, { "gene": "LGALS3BP", "ensembl_id": "ENSG00000108679", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "galectin 3 binding protein [Source:HGNC Symbol,Acc:HGNC:6564]", "omim_id": "600626", "functional_summary": "The central component of microtubule nucleation complex is the evolutio rily highly conserved 纬-tubulin (TUBG1)(11005013) that forms together with TUBGCP2 and TUBGCP3 the 纬-tubulin small complex (纬-TuSC)(9566967). Although higher levels of LGALS3BP expression lead to the dispersion of PCM, depletion results in the generation of multiple centriolar structures. The PCM hypertrophy- and accumulation of centriolar structure-phenotypes correlate directly with centrosome morphology aberrations in cancer cells and patient tissues with deregulated levels of LGALS3BP(23443559).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "11005013 , 9566967, 23443559", "complex_components": ["BCHE", "LGALS3BP"], "pfam_ids": ["PF00530", "PF07707"], "domain_descriptions": ["SRCR domain", "SRCR-like domain superfamily", "BTB/POZ domain", "SKP1/BTB/POZ domain superfamily", "BTB/Kelch-associated", "BTB/POZ domain-containing protein and Galectin-3-binding"], "string_link": "https://string-db.org/network/9606/ENSG00000108679", "synonym": "90K, BTBD17B, CYCAP, GP90, M2BP, MAC-2-BP, TANGO10B", "ortholog_mouse": "Lgals3bp", "ortholog_zebrafish": "lgals3bp.1, lgals3bp.2, lgals3bp.3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.3805, "sd_percent_ciliated": 4.3412, "z_score": 1.62 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.41, "sd_percent_ciliated": 2.41, "z_score": 2.41 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5384, "sd_percent_ciliated": -3.5384, "z_score": -3.5384 } ] }, { "gene": "LGR4", "ensembl_id": "ENSG00000205213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing G protein-coupled receptor 4 [Source:HGNC Symbol,Acc:HGNC:13299]", "omim_id": "606666", "functional_summary": "LGR4 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DIAPH1", "DVL2", "IQGAP1", "LGR4", "MAP2K1", "MAP2K2", "PTK2", "PXN", "RSPO3", "WASL", "TNFSF11", "TGFB1"], "pfam_ids": ["PF13855", "PF00560", "PF01462", "PF00001"], "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Leucine-rich repeat N-terminal domain", "Leucine-rich repeat", "Glycoprotein hormone receptor family", "Leucine-rich repeat", "typical subtype", "GPCR", "rhodopsin-like", "7TM", "Leucine-rich repeat domain superfamily", "Leucine-rich repeat and transmembrane domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000205213", "synonym": "GPR48", "ortholog_mouse": "Lgr4", "ortholog_xenopus": "lgr4", "ortholog_zebrafish": "lgr4", "ortholog_drosophila": "rk", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.112, "sd_percent_ciliated": 0.112, "z_score": 0.112, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7731, "sd_percent_ciliated": -4.7731, "z_score": -4.7731, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LGR5", "ensembl_id": "ENSG00000139292", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing G protein-coupled receptor 5 [Source:HGNC Symbol,Acc:HGNC:4504]", "omim_id": "606667", "functional_summary": "LGR5 has localized in basal body ,transition zone.", "localization": "cilia,basal body ,transition zone", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["LGR5", "Rspo2", "Znrf3", "FZD5", "LRP6", "RNF43", "RSPO1", "Rspo1", "RSPO2", "RSPO3", "RSPO4"], "pfam_ids": ["PF00560", "PF13855", "PF01462", "PF00001", "PF12799"], "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Leucine-rich repeat N-terminal domain", "Leucine-rich repeat", "Glycoprotein hormone receptor family", "Leucine-rich repeat", "typical subtype", "GPCR", "rhodopsin-like", "7TM", "Leucine-rich repeat domain superfamily", "Leucine rich repeat 4"], "string_link": "https://string-db.org/network/9606/ENSG00000139292", "synonym": "FEX, GPR49, GPR67, HG38", "ortholog_mouse": "Lgr5", "ortholog_xenopus": "lgr5", "ortholog_drosophila": "rk", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.5545, "sd_percent_ciliated": 6.8975, "z_score": -0.0551, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.203, "sd_percent_ciliated": 0.203, "z_score": 0.203, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8117, "sd_percent_ciliated": -2.8117, "z_score": -2.8117, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LHCGR", "ensembl_id": "ENSG00000138039", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "luteinizing hormone/choriogonadotropin receptor [Source:HGNC Symbol,Acc:HGNC:6585]", "omim_id": "152790", "functional_summary": "LHCGR localized to basal body (25613900) The percentage of ciliated epithelial cells and their cilia height is decreased in Lhcgr mutant epididymal epithelium.", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25613900, informatics.jax.org", "complex_components": ["GIPC1", "LHCGR", "TSHR", "FSHR"], "pfam_ids": ["PF13306", "PF00001"], "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Glycoprotein hormone receptor family", "Lutropin-choriogonadotropic hormone receptor", "GPCR", "rhodopsin-like", "7TM", "BspA-type LRR region", "Leucine-rich repeat domain superfamily", "Multifunctional Developmental and Immune Receptor"], "string_link": "https://string-db.org/network/9606/ENSG00000138039", "synonym": "HHG, LCGR, LGR2, LHR, ULG5", "ortholog_mouse": "Lhcgr", "ortholog_c_elegans": "fshr-1", "ortholog_xenopus": "lhcgr", "ortholog_zebrafish": "lhcgr", "ortholog_drosophila": "Lgr1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.3898, "sd_percent_ciliated": 7.7795, "z_score": -0.4385, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.563, "sd_percent_ciliated": 0.563, "z_score": 0.563, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6911, "sd_percent_ciliated": -0.6911, "z_score": -0.6911, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LIG1", "ensembl_id": "ENSG00000105486", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DNA ligase 1 [Source:HGNC Symbol,Acc:HGNC:6598]", "omim_id": "126391", "functional_summary": "Depletion of ORC1, ORC4, ORC6, CDT1 and CDC6 resulted in dramatically impaired cilia formation similar to ORC1-deficient patient cells ( 23516378).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Transcription regulation", "reference": "2.3516378E7", "complex_components": ["CCNA2", "CDK2", "LIG1", "PARP1", "POLA1", "POLA2", "POLD1", "POLD2", "POLD3", "POLD4", "POLE", "POLE2", "POLE3", "POLE4", "RFC1", "RFC2", "RFC3", "RFC4", "RFC5", "RPA1", "RPA2", "RPA3", "TOP1", "PCNA", "PRIM1", "PRIM2", "HUS1", "RAD1", "RAD9A", "ERCC1", "ERCC2", "ERCC3", "ERCC5", "GTF2H1", "XPA"], "pfam_ids": ["PF04679", "PF01068", "PF04675"], "domain_descriptions": ["DNA ligase", "ATP-dependent", "DNA ligase", "ATP-dependent", "N-terminal", "DNA ligase", "ATP-dependent", "C-terminal", "DNA ligase", "ATP-dependent", "central", "Nucleic acid-binding", "OB-fold", "DNA ligase", "ATP-dependent", "conserved site", "DNA ligase", "ATP-dependent", "N-terminal domain superfamily", "ATP-dependent DNA ligase"], "string_link": "https://string-db.org/network/9606/ENSG00000105486", "synonym": "HLIG1, LIGI", "ortholog_mouse": "Lig1", "ortholog_c_elegans": "lig-1", "ortholog_xenopus": "lig1", "ortholog_zebrafish": "lig1", "ortholog_drosophila": "DNAlig1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.5884, "sd_percent_ciliated": 11.5291, "z_score": -0.6568 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.57, "sd_percent_ciliated": 1.57, "z_score": 1.57 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.4694, "sd_percent_ciliated": -2.4694, "z_score": -2.4694 } ] }, { "gene": "LIMA1", "ensembl_id": "ENSG00000050405", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "LIM domain and actin binding 1 [Source:HGNC Symbol,Acc:HGNC:24636]", "omim_id": "608364", "functional_summary": "Also known as EPLIN. Modulates actin stability to restrict primary cilia formation. Knockdown increases the levels of MyosinVa at the centrosome and primary cilia formation (32496561)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.5849865E7", "complex_components": {}, "pfam_ids": "PF00412", "domain_descriptions": ["Zinc finger", "LIM-type", "LIM domain and actin-binding protein 1", "Lim domain"], "string_link": "https://string-db.org/network/9606/ENSG00000050405", "synonym": "EPLIN", "ortholog_mouse": "Lima1", "ortholog_xenopus": "lima1", "ortholog_zebrafish": "lima1a, lima1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9293, "sd_percent_ciliated": 0.9293, "z_score": 0.9293, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LIMK2", "ensembl_id": "ENSG00000182541", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "LIM domain kinase 2 [Source:HGNC Symbol,Acc:HGNC:6614]", "omim_id": "601988", "functional_summary": "Actin remodelling factor. Role in the negative regulation of ciliogenesis by upregulating the expression of YAP/TAZ target genes. Together with TESK1, LIMK2 plays a role in suppressing the directio l trafficking of ciliary vesicles to the ciliary base (25849865). knockdown of LIMK2 significantly increased the number of ciliated cells. (25849865)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "28814779, 25849865", "complex_components": {}, "pfam_ids": ["PF00069", "PF05361", "PF00595", "PF00412", "PF07714"], "domain_descriptions": ["Protein kinase domain", "PDZ domain", "Zinc finger", "LIM-type", "CPI-17", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "PDZ superfamily", "CPI-17 superfamily", "Actin-regulating Serine/Threonine Kinase", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Pentaxin", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000182541", "ortholog_mouse": "Limk2", "ortholog_xenopus": "limk2", "ortholog_zebrafish": "limk2", "ortholog_drosophila": "LIMK1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.1396, "z_score": 0.8283, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 61.3445, "z_score": 2.8272, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.1884 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.116, "z_score": 0.116, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.116 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.523, "z_score": -0.523, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.523 } ] }, { "gene": "LNPK", "ensembl_id": "ENSG00000144320", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lunapark, ER junction formation factor [Source:HGNC Symbol,Acc:HGNC:21610]", "omim_id": "610236", "functional_summary": "LNPK has localized in flagella.", "localization": "flagella", "functional_category": "ECM & connective tissue", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF10058", "domain_descriptions": ["Lunapark zinc ribbon domain", "Lunapark family"], "string_link": "https://string-db.org/network/9606/ENSG00000144320", "synonym": "KIAA1715, LNP, LNP1, UL", "ortholog_mouse": "Lnp1, Lnpk", "ortholog_c_elegans": "lnp-1", "ortholog_xenopus": "lnp1, lnpk", "ortholog_zebrafish": "lnpa, lnpk", "ortholog_drosophila": "Lnpk", "screens": {} }, { "gene": "LPAR1", "ensembl_id": "ENSG00000198121", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lysophosphatidic acid receptor 1 [Source:HGNC Symbol,Acc:HGNC:3166]", "omim_id": "602282", "functional_summary": "LPA-LPAR1-driven mitogenic sig ling was restricted in cells with primary cilium due to compartmentalization of LPAR1 and its downstream effectors, G伪12 and G伪q, in cilia and in cytoplasm, respectively. LPAR1 was redistributed to the plasma membrane upon loss of primary cilium, thus e bling its binding to G伪12 and G伪q, and therefore suggesting that redistribution of LPAR1 is a key mechanism driving proliferation in a cilia-dependent manner(29321663).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9321663E7", "complex_components": ["LPAR1", "LPAR2", "LPAR3", "S1PR1", "S1PR2", "S1PR3", "GPR4", "GPR68"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Lysophosphatidic acid receptor EDG-2", "Lysophosphatidic acid receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000198121", "synonym": "EDG-2, EDG2, GPCR26, LPA1, MREC1.3, REC.1.3, VZG-1", "ortholog_mouse": "Lpar1", "ortholog_xenopus": "lpar1", "ortholog_zebrafish": "lpar1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.92, "sd_percent_ciliated": 7.92, "z_score": 7.92, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.4622, "sd_percent_ciliated": -6.4622, "z_score": -6.4622, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LPAR3", "ensembl_id": "ENSG00000171517", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "lysophosphatidic acid receptor 3 [Source:HGNC Symbol,Acc:HGNC:14298]", "omim_id": "605106", "functional_summary": "LPAR3 has localized in primary cilia. Lpar1 is critical for proper ciliogenesis, VZ/SVZ generation, and neocortex formation … Deletion of Lpar1 in mice causes abnormally elongated cilia and decreased proliferation in neural progenitor cells. (33510165) Knockdown of LPAR1 blocked the fetal bovine serum (FBS)- or LPA-induced cilia disassembly in RPE-1 cells. (33510165) Depletion of LPA or LPAR1 results in slower cilia disassembly and longer cilia. (34831200)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 33510165, 34831200", "complex_components": ["LPAR3", "LPAR1", "LPAR2", "S1PR1", "S1PR2", "S1PR3", "GPR4", "GPR68"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Lysophosphatidic acid receptor", "Lysophosphatidic acid receptor EDG-7", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000171517", "synonym": "EDG-7, EDG7, HOFNH30, LP-A3, LPA3, RP4-678I3", "ortholog_mouse": "Lpar3", "ortholog_xenopus": "lpar3", "ortholog_zebrafish": "lpar3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.64, "sd_percent_ciliated": 2.64, "z_score": 2.64, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.4334, "sd_percent_ciliated": -6.4334, "z_score": -6.4334, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRAT", "ensembl_id": "ENSG00000121207", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Reduced", "description": "lecithin retinol acyltransferase [Source:HGNC Symbol,Acc:HGNC:6685]", "omim_id": "604863", "functional_summary": "LRAT has localized in cilia. KV ciliogenesis is disturbed in lpar3 morphants. atx and lpar3 morphants showed significantly reduced numbers of cilia … reduction in cilia volume. (23095890)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273, 17011878, 23095890 ,17011878", "complex_components": {}, "pfam_ids": "PF04970", "domain_descriptions": ["LRAT domain", "Lecithin retinol acyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000121207", "synonym": "LCA14", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrat", "ortholog_xenopus": "lrat", "ortholog_zebrafish": "lrata, lratb.1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -5.097, "z_score": -2.0558, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 15.4517, "z_score": -2.733, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 5.2142 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.31, "z_score": 2.31, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.31 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2858, "z_score": -0.2858, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.2858 } ] }, { "gene": "LRBA", "ensembl_id": "ENSG00000198589", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "LPS responsive beige-like anchor protein [Source:HGNC Symbol,Acc:HGNC:1742]", "omim_id": "606453", "functional_summary": "Involved in trafficking events between the Golgi apparatus and the apical plasma membrane and/or the cilium base (28814779)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "2.9475374E7", "complex_components": {}, "pfam_ids": ["PF20426", "PF02138", "PF20425", "PF13385", "PF06469", "PF15787", "PF14844"], "domain_descriptions": ["BEACH domain", "WD40 repeat", "Neurobeachin-like", "DUF1088", "Armadillo-like helical", "PH-like domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "Armadillo-type fold", "PH-BEACH domain", "Neurobeachin/BDCP", "DUF4704", "WD40-repeat-containing domain superfamily", "BEACH domain superfamily", "Neurobeachin", "beta-propeller domain", "Neurobeachin", "alpha-solenoid region", "BEACH Domain-Containing"], "string_link": "https://string-db.org/network/9606/ENSG00000198589", "synonym": "BGL, CDC4L, LAB300, LBA, UC.147", "ortholog_mouse": "Lrba", "ortholog_c_elegans": "sel-2", "ortholog_xenopus": "lrba", "ortholog_zebrafish": "lrba", "ortholog_drosophila": "rg", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.3691, "sd_percent_ciliated": 0.0735, "z_score": -0.1987 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0409, "sd_percent_ciliated": -1.0409, "z_score": -1.0409 } ] }, { "gene": "LRGUK", "ensembl_id": "ENSG00000155530", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeats and guanylate kinase domain containing [Source:HGNC Symbol,Acc:HGNC:21964]", "omim_id": "616478", "functional_summary": "Leucine-rich repeats and guanylate ki se domain contain (LRGUK ) isoform 1 (LRGUK-1) has a critical role in both sperm head shaping and basal body attachment to the plasma membrane, and in the early aspects of axoneme development. LRGUK-1 dysfunction leads to abnormal manchette formation and movement, and an absence of axoneme extension from the basal body(25781171).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "25781171 ,25781171", "complex_components": ["HOOK2", "KLC3", "LRGUK", "RIMBP3"], "pfam_ids": ["PF14580", "PF00625", "PF12799"], "domain_descriptions": ["Leucine-rich repeat", "Guanylate kinase-like domain", "Guanylate kinase/L-type calcium channel beta subunit", "Leucine rich repeat 4", "P-loop containing nucleoside triphosphate hydrolase", "Leucine-rich repeat domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000155530", "synonym": "CFAP246, FLJ32786", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrguk", "ortholog_xenopus": "lrguk", "ortholog_zebrafish": "lrguk", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.07, "sd_percent_ciliated": 2.07, "z_score": 2.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "LRIT1", "ensembl_id": "ENSG00000148602", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat, Ig-like and transmembrane domains 1 [Source:HGNC Symbol,Acc:HGNC:23404]", "omim_id": "616103", "functional_summary": "LRIT1 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF13855", "PF07679"], "domain_descriptions": ["Cysteine-rich flanking region", "C-terminal", "Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Leucine-rich repeat domain superfamily", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Leucine-rich repeat and fibronectin type-III domain-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000148602", "synonym": "DKFZP434K091, FIGLER9, LRRC21, PAL", "ortholog_mouse": "Lrit1", "ortholog_xenopus": "lrit1", "ortholog_zebrafish": "lrit1a, lrit1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.368, "sd_percent_ciliated": -1.368, "z_score": -1.368, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRP6", "ensembl_id": "ENSG00000281324", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Not Reported", "description": "LDL receptor related protein 6 [Source:HGNC Symbol,Acc:HGNC:6698]", "omim_id": "603507", "functional_summary": "Ccnyl1 and its close homolog Cyclin Y (Ccny) activate CDK14/16, which phosphorylate and prime the Wnt co-receptor LRP6 (low-density lipoprotein receptor-related protein 6) for incoming Wnt ligands mostly in 尾-catenin-independent Wnt/Gsk3 sig ling(24837680 , 20059949). Mucociliary Wnt sig ling is essential for ciliogenesis and it engages Lrp6 co-receptors that localize to cilia via a VxP ciliary targeting sequence(36878953). Enhancement of Wnt/LRP6 signaling before serum starvation impairs ciliogenesis … reduced Rab8-vesicle docking, failure to remove CP110-CEP97 from mother centrioles … (40892854) Knockdown of ccny/l1 or lrp6 reduces cilium numbers and impairs their morphology. (38697898)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "24837680 , 20059949 , 36878953, 40892854, 38697898", "complex_components": ["LRP6", "PTH", "PTH1R", "FZD5", "LGR5", "ANGPTL4", "SDC1", "SDC2", "SDC4", "DKK1", "KREMEN1", "SOST"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281324", "synonym": "ADCAD2", "ortholog_mouse": "Lrp6", "ortholog_xenopus": "lrp6", "ortholog_zebrafish": "lrp6", "ortholog_drosophila": "arr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.2806, "sd_percent_ciliated": 7.8448, "z_score": -0.9364 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.89, "sd_percent_ciliated": 5.89, "z_score": 5.89 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2214, "sd_percent_ciliated": 0.2214, "z_score": 0.2214 } ] }, { "gene": "LRPPRC", "ensembl_id": "ENSG00000138095", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich pentatricopeptide repeat containing [Source:HGNC Symbol,Acc:HGNC:15714]", "omim_id": "607544", "functional_summary": "LRPPRC has localized in flagella.", "localization": "flagella, Nucleus, Mitochondria", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["CHUK", "CUL1", "FBXW11", "IKBKB", "IKBKG", "IQGAP2", "KPNA2", "LRPPRC", "MCC", "MTIF2", "NFKB1", "NFKB2", "NFKBIB", "PDCD2", "POLR1A", "POLR1B", "POLR1D", "POLR1E", "POLR1G", "POLR2H", "POLR2L", "RASAL2", "REL", "RELA", "SKP1"], "pfam_ids": ["PF17177", "PF13812", "PF01535"], "domain_descriptions": ["Pentatricopeptide repeat", "Tetratricopeptide-like helical domain superfamily", "PROP1-like", "PPR domain", "Leucine-rich PPR motif-containing protein", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000138095", "synonym": "GP130, LRP130, LSFC", "ortholog_mouse": "Lrpprc", "ortholog_c_elegans": "lrpr-1", "ortholog_xenopus": "lrpprc", "ortholog_zebrafish": "lrpprc", "ortholog_drosophila": "bsf, Lrpprc2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.1059, "sd_percent_ciliated": 4.0333, "z_score": -0.8364, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2, "sd_percent_ciliated": 2, "z_score": 2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.0111, "sd_percent_ciliated": -7.0111, "z_score": -7.0111, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRC23", "ensembl_id": "ENSG00000010626", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing 23 [Source:HGNC Symbol,Acc:HGNC:19138]", "omim_id": "620708", "functional_summary": "Radial spoke protein with function in ciliary motility and motile cilia formation. Mutations in Lrrc23 result in ciliary motility defects specifically in the cilia of the otic vesicle (29475374).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.2055034E7", "complex_components": {}, "pfam_ids": ["PF00560", "PF14580", "PF13516"], "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "SDS22/Internalin LRR-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000010626", "synonym": "B7, LRPB7", "ortholog_mouse": "Lrrc23", "ortholog_xenopus": "lrrc23", "ortholog_zebrafish": "lrrc23", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.1, "sd_percent_ciliated": 1.1, "z_score": 1.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1043, "sd_percent_ciliated": -2.1043, "z_score": -2.1043, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRC34", "ensembl_id": "ENSG00000171757", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing 34 [Source:HGNC Symbol,Acc:HGNC:28408]", "omim_id": "619037", "functional_summary": "Mutated in Joubert syndrome. Localized along the ciliary shaft in controls but only at ciliary base in LRRC34-/- patient cells, which displayed reduced ciliogenesis potential and muted response of SHH sig ling to SAG compared with controls (32055034)", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "30131441 ,28460059", "complex_components": {}, "pfam_ids": "PF13516", "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "Leucine-rich repeat-containing regulator of pluripotency"], "string_link": "https://string-db.org/network/9606/ENSG00000171757", "synonym": "MGC27085", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrrc34", "ortholog_xenopus": "lrrc34", "ortholog_zebrafish": "lrrc34", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.2242, "z_score": 0.8547, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 52.2447, "z_score": 1.7247, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.6032 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.78, "z_score": 1.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.78 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7327, "z_score": -0.7327, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.7327 } ] }, { "gene": "LRRC45", "ensembl_id": "ENSG00000169683", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "leucine rich repeat containing 45 [Source:HGNC Symbol,Acc:HGNC:28302]", "functional_summary": "Recruits the keratin-binding protein FBF1. Promotes cilia biogenesis in CP110- uncapped centrioles by organising centriolar satellites. It is required for centrosome cohesion at the proximal end of centrioles. Establishes the transition zone, recruitment of Rab8 and satellites to centrosomes, and promotes the docking of Rab8 GTPase-positive vesicles to the mother centriole (30131441). P1 fibroblasts showed a significant reduction of primary cilia frequency and length. (39638757) Loss of LRRC45 led to a reduction of cilia formation in serum-starved RPE1 cells … primary cilia in LRRC45 depleted cells were shorter in comparison to control depleted cells. (30131441)", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transition zone", "reference": "30388400, 39638757, 30131441 ,30131441; 39638757", "complex_components": {}, "pfam_ids": "PF13516", "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "Centrosome and Cilium Assembly Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000169683", "synonym": "MGC20806", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrrc45", "ortholog_xenopus": "lrrc45", "ortholog_zebrafish": "lrrc45", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.98, "sd_percent_ciliated": 8.98, "z_score": 8.98, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.212, "sd_percent_ciliated": 1.212, "z_score": 1.212, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRC46", "ensembl_id": "ENSG00000141294", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing 46 [Source:HGNC Symbol,Acc:HGNC:25047]", "omim_id": "620927", "functional_summary": "Leucine-rich repeat containing 46 (LRRC46) is one of the the multiple morphological abnormalities of the flagella (MMAF)-related protein and specifically expressed in the testes of adult mice, and show that LRRC46 is essential for sperm flagellum biogenesis. The mutation of Lrrc6, an important paralog of Lrrc46, causes 10.6% primary ciliary dyskinesia by the absence of dynein arm components (23527195 , 23122589). Knockout of Lrrc46 in mice resulted in typical MMAF phenotypes, including sperm with short, coiled, and irregular flagella(35955660).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "23527195 , 23122589 , 35955660 ,33771330", "complex_components": {}, "pfam_ids": ["PF13855", "PF12799"], "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Leucine-rich repeat domain superfamily", "Ciliary and flagellar integrity-associated protein", "Leucine rich repeat 4"], "string_link": "https://string-db.org/network/9606/ENSG00000141294", "synonym": "MGC16309", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrrc46", "ortholog_xenopus": "lrrc46", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0211, "sd_percent_ciliated": 0.0211, "z_score": 0.0211, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1104, "sd_percent_ciliated": -2.1104, "z_score": -2.1104, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRC49", "ensembl_id": "ENSG00000137821", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing 49 [Source:HGNC Symbol,Acc:HGNC:25965]", "omim_id": "620497", "functional_summary": "C11ORF49 and LRRC49, which we have re- med centriolar satellite-associated tubulin polyglutamylation proteins, CSTPP1 and CSTPP2, respectively, are novel cytoplasmic regulators of both cilium disassembly and nuclear morphology (34782749).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.4782749E7", "complex_components": {}, "pfam_ids": ["PF14580", "PF12799"], "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Leucine rich repeat 4", "Leucine-rich repeat domain superfamily", "Ciliary and flagellar integrity-associated protein"], "string_link": "https://string-db.org/network/9606/ENSG00000137821", "synonym": "CSTPP2, FLJ20156, PGS4", "ortholog_mouse": "Lrrc49", "ortholog_xenopus": "lrrc49", "ortholog_drosophila": "CG13708", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.233, "sd_percent_ciliated": 0.233, "z_score": 0.233, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6362, "sd_percent_ciliated": -0.6362, "z_score": -0.6362, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRC52", "ensembl_id": "ENSG00000162763", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing 52 [Source:HGNC Symbol,Acc:HGNC:32156]", "omim_id": "615218", "functional_summary": "Slo3 and LRRC52 proteins localized in human sperm (24670955).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4670955E7", "complex_components": {}, "pfam_ids": "PF13855", "domain_descriptions": ["Leucine-rich repeat N-terminal domain", "Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Leucine-rich repeat domain superfamily", "Voltage and calcium-activated potassium channel auxiliary protein"], "string_link": "https://string-db.org/network/9606/ENSG00000162763", "synonym": "FLJ25811", "ortholog_mouse": "Lrrc52", "ortholog_xenopus": "lrrc52", "ortholog_zebrafish": "lrrc52", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5702, "sd_percent_ciliated": 0.5702, "z_score": 0.5702, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRC56", "ensembl_id": "ENSG00000273831", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat containing 56 [Source:HGNC Symbol,Acc:HGNC:25430]", "omim_id": "618227", "functional_summary": "Interacts with the intraflagellar transport (IFT) protein IFT88. Required for the transport and addition of dynein arms to the distal end of the flagellum during cilia assembly. Mutations result in a disease entity within the group of mucociliary clearance disorders and loss of ciliary motility (30388400).", "localization": "cilia,basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion", "reference": "23122589, 27353389 23527195, 30388400 ,30388400", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000273831", "synonym": "DKFZP761L1518, DNAAF12, FLJ00101, ODA8", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrrc56", "ortholog_xenopus": "lrrc56", "ortholog_zebrafish": "lrrc56", "ortholog_drosophila": "CG14185", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7869, "sd_percent_ciliated": -0.7869, "z_score": -0.7869, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRCC1", "ensembl_id": "ENSG00000133739", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat and coiled-coil centrosomal protein 1 [Source:HGNC Symbol,Acc:HGNC:29373]", "omim_id": "617791", "functional_summary": "The depletion of LRRCC1 in human cells induced defects in basal body structure, ciliary assembly, and ciliary sig ling, supporting that LRRCC1 cooperates with C2CD3 to organizing the distal region of basal bodys(35319462).", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "35319462, 27894351 ,27894351", "complex_components": {}, "pfam_ids": "PF12799", "domain_descriptions": ["Leucine-rich repeat", "Leucine rich repeat 4", "Leucine-rich repeat domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000133739", "synonym": "CLERC, KIAA1764, VFL1", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lrrcc1", "ortholog_xenopus": "LOC100492434, LOC108647931, lrrcc1", "ortholog_zebrafish": "lrrcc1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1488, "sd_percent_ciliated": -2.1488, "z_score": -2.1488, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LRRK2", "ensembl_id": "ENSG00000188906", "overexpression_effects": "Not Reported", "lof_effects": "Reduced ciliogenesis", "percent_ciliated_cells_effects": "Decreased", "description": "leucine rich repeat kinase 2 [Source:HGNC Symbol,Acc:HGNC:18618]", "omim_id": "609007", "functional_summary": "Phosphorylates Rab8A, Rab10 and Rab12, mutations interferer with primary cilia formation by generating pRab10 that binds endogenous RILPL1 and blocks cilia formation. Regulates intracellular vesicular traffic during ciliogenesis (30398148, 29125462). RAB12-LRRK2 complex suppresses primary ciliogenesis … the ciliated cell percentage, cilia length, and cilia volume were quantified in astrocytes …(39343966) Activating LRRK2 mutations cause Parkinson’s and block primary cilia formation in specific cells in the mouse brain. (39088390) Some data suggest LRRK2 kinase activity may not directly regulate ciliogenesis depending on cell type.\n(30398148) (34230223)", "localization": "basal body, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "32496561, 39343966, 39088390, 30398148 ,34230223", "complex_components": ["CDC37", "HSP90AB1", "LRRK2", "STUB1", "CASP8", "FADD", "CD38"], "pfam_ids": ["PF23744", "PF23745", "PF00069", "PF08477", "PF13855", "PF16095", "PF23748", "PF13516", "PF00560"], "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "LRRK2", "ANK repeat domain", "LRRK2", "ARM repeat domain", "Protein kinase domain", "Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Small GTP-binding domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "Protein kinase", "ATP binding site", "Roc domain", "P-loop containing nucleoside triphosphate hydrolase", "C-terminal of Roc (COR) domain", "Leucine-rich repeat domain superfamily", "WD40-repeat-containing domain superfamily", "Ankyrin repeat-containing domain superfamily", "Ser/Thr Protein Kinases with Diverse Regulatory Roles", "LRRK2", "beta propeller", "SDS22/Internalin LRR-containing", "Serine/Threonine Kinases and Pseudokinases"], "string_link": "https://string-db.org/network/9606/ENSG00000188906", "synonym": "DKFZP434H2111, FLJ45829, PARK8, RIPK7, ROCO2", "ortholog_mouse": "Lrrk2", "ortholog_xenopus": "lrrk2", "ortholog_zebrafish": "lrrk2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.0046, "sd_percent_ciliated": 4.9005, "z_score": -0.0006 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.822, "sd_percent_ciliated": 0.822, "z_score": 0.822 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0769, "sd_percent_ciliated": -1.0769, "z_score": -1.0769 } ] }, { "gene": "LRRN1", "ensembl_id": "ENSG00000175928", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "leucine rich repeat neuronal 1 [Source:HGNC Symbol,Acc:HGNC:20980]", "omim_id": "619623", "functional_summary": "LRRN1 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF13855", "PF07679"], "domain_descriptions": ["Cysteine-rich flanking region", "C-terminal", "Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Leucine-rich repeat domain superfamily", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Leucine-rich repeat and fibronectin type-III domain-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000175928", "synonym": "FIGLER3", "ortholog_mouse": "Lrrn1", "ortholog_c_elegans": "iglr-1", "ortholog_xenopus": "lrrn1", "ortholog_zebrafish": "lrrn1", "ortholog_drosophila": "CG5096", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.7894, "sd_percent_ciliated": 1.1463, "z_score": -0.1478 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.06, "sd_percent_ciliated": 4.06, "z_score": 4.06 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.4902, "sd_percent_ciliated": 0.4902, "z_score": 0.4902 } ] }, { "gene": "LSR", "ensembl_id": "ENSG00000105699", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lipolysis stimulated lipoprotein receptor [Source:HGNC Symbol,Acc:HGNC:29572]", "omim_id": "616582", "functional_summary": "Tight Junction Proteins angulin-1/LSR, YAP, and ASPP2 localized at the midbody and centrosome during cytokinesis in the endometrial cancer cell line Sawano(34944960).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.494496E7", "complex_components": {}, "pfam_ids": "PF05624", "domain_descriptions": ["Immunoglobulin domain subtype", "Immunoglobulin-like domain", "LISCH7", "Immunoglobulin-like fold", "Immunoglobulin-like domain superfamily", "Immunoglobulin-like domain-containing protein LISCH7"], "string_link": "https://string-db.org/network/9606/ENSG00000105699", "synonym": "ILDR3, LISCH7", "ortholog_mouse": "Lsr", "ortholog_xenopus": "lsr", "ortholog_zebrafish": "lsr", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.61, "sd_percent_ciliated": 2.61, "z_score": 2.61, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3022, "sd_percent_ciliated": -2.3022, "z_score": -2.3022, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LUZP1", "ensembl_id": "ENSG00000169641", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "leucine zipper protein 1 [Source:HGNC Symbol,Acc:HGNC:14985]", "omim_id": "601422", "functional_summary": "Localizes to both actin filaments and the centrosome/basal body. Is an actin-stabilizing protein that regulates actin dy mics, at least in part, by mobilizing ARP2 to the centrosomes. Interacts with known ciliogenesis and cilia-length regulators. Depleting LUZP1 or its interacting protein, EPLIN, increases the levels of MyosinVa at the centrosome and primary cilia formation.LUZP1- or EPLIN-silenced cells had significantly longer primary cilia than control cells (32496561).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development", "reference": "22072986, 25446516, 22510444, 32553112", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000169641", "synonym": "LUZP", "ortholog_mouse": "Luzp1", "ortholog_xenopus": "luzp1", "ortholog_zebrafish": "luzp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.471, "sd_percent_ciliated": 2.253, "z_score": 0.0559, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.4, "sd_percent_ciliated": 3.4, "z_score": 3.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0299, "sd_percent_ciliated": 1.0299, "z_score": 1.0299, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "LY6K", "ensembl_id": "ENSG00000160886", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lymphocyte antigen 6 family member K [Source:HGNC Symbol,Acc:HGNC:24225]", "omim_id": "615093", "functional_summary": "LY6K has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "T cell biology", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00087", "domain_descriptions": ["Snake toxin/toxin-like", "Snake toxin-like superfamily", "Sperm-binding zona pellucida regulatory protein"], "string_link": "https://string-db.org/network/9606/ENSG00000160886", "synonym": "CT97, FLJ35226, HSJ001348", "ortholog_mouse": "Ly6k", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.3413, "z_score": 0.579, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 48.126, "z_score": 1.2257, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.1377 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.3, "z_score": 0.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.3 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2659, "z_score": -1.2659, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.2659 } ] }, { "gene": "LYZL4", "ensembl_id": "ENSG00000157093", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "lysozyme like 4 [Source:HGNC Symbol,Acc:HGNC:28387]", "omim_id": "612750", "functional_summary": "LYZL4 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00062", "domain_descriptions": ["Glycoside hydrolase", "family 22", "lysozyme", "Glycoside hydrolase", "family 22", "Glycoside hydrolase family 22 domain", "Lysozyme-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000157093", "synonym": "LYC4, MGC26768", "ortholog_mouse": "Lyzl4", "ortholog_xenopus": "MGC89221, spaca5l.2", "ortholog_zebrafish": "lyz", "ortholog_drosophila": "CG11159, CG16756, CG16799, CG30062", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.6263, "z_score": -1.9088, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.055, "z_score": -2.4176, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.1985 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.413, "z_score": 0.413, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.413 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5154, "z_score": -0.5154, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.5154 } ] }, { "gene": "LZTFL1", "ensembl_id": "ENSG00000163818", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "leucine zipper transcription factor like 1 [Source:HGNC Symbol,Acc:HGNC:6741]", "omim_id": "606568", "functional_summary": "Interacts with a BBS protein complex known as the BBSome to negatively regulate ciliary trafficking of this complex inhibiting BBSome ciliary entry. It also regulates ciliary trafficking of hedgehog sig l transducer, Smoothened (22072986). Coordi tes the interactions between the BBSome and the IFT particle to regulate the removal of Ptch1 and Smo from cilia (25446516). Depletion leads to a Bardet-Biedl syndrome phenotype (22510444). We found no differences in cilia formation, cilia stability, or cilia length (in RPE1) LZTFL1 interagates with BBSome and regulates ciliary trafficking of BBSome and Smoothened (22072986) Viral treatment of HBECs resulted in significantly less amount of ciliated HBECs … in LZTFL1 shRNA‐infected cells (26364604)", "localization": "cilia ,transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone, Transcription regulation, Cilia length regulation", "reference": "27783952, 22510444, 23692385, 22072986, 26364604 ,22510444, 23692385", "complex_components": ["AP1G1", "LZTFL1", "TFRC"], "pfam_ids": "PF15294", "domain_descriptions": "Leucine zipper transcription factor-like protein 1", "string_link": "https://string-db.org/network/9606/ENSG00000163818", "synonym": "BBS17", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Lztfl1", "ortholog_xenopus": "lztfl1", "ortholog_zebrafish": "lztfl1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.41, "sd_percent_ciliated": 19.1124, "z_score": -0.4361, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 67.9, "sd_percent_ciliated": 67.9, "z_score": 67.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5573, "sd_percent_ciliated": -0.5573, "z_score": -0.5573, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MACF1", "ensembl_id": "ENSG00000127603", "overexpression_effects": "Not Reported", "lof_effects": "Abolished ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule actin crosslinking factor 1 [Source:HGNC Symbol,Acc:HGNC:13664]", "omim_id": "608271", "functional_summary": "Role in coordi tion of actin and , critical in ciliogenesis, mainte nce and regulation of apicobasal polarity. Potential interacting partner with basal body protein Mkks and TALPID3. It may be required for cilia- targeted vesicle exchange at this actin/microtubule interface. Loss of Macf1 abolished docking of the basal body and subsequent extension of the ciliary axoneme (27783952). Ablation of Macf1 in the developing retina abolishes ciliogenesis, and basal bodies fail to dock to ciliary vesicles or migrate apically. (27783952) Deletion of Macf1 in mice results in … failed docking of the basal body to ciliary vesicles … and loss of primary cilia.(29305615)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Cell migration & adhesion", "reference": "24608321, 27783952, 29305615", "complex_components": ["CAMSAP3", "MACF1"], "pfam_ids": ["PF02187", "PF00307", "PF21020", "PF00435", "PF21097", "PF13499", "PF21019", "PF18373", "PF17902", "PF00681"], "domain_descriptions": ["SH3 domain", "Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "Spectrin repeat", "EF-hand domain", "GAR domain", "EF-hand domain pair", "Spectrin/alpha-actinin", "EF-Hand 1", "calcium-binding site", "GAR domain superfamily", "CH domain superfamily", "Desmoplakin", "spectrin-like domain", "Desmoplakin", "SH3 domain", "Plakin", "Plectin-like", "spectrin-like repeat", "Plectin repeat", "Plakin repeat superfamily", "Microtubule-actin cross-linking factor 1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000127603", "synonym": "ABP620, ACF7, FLJ45612, FLJ46776, KIAA0465, KIAA0754, KIAA1251, LNC-PMIF, MACF", "ortholog_mouse": "Macf1", "ortholog_c_elegans": "vab-10", "ortholog_xenopus": "macf1", "ortholog_zebrafish": "macf1a", "ortholog_drosophila": "shot", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.4416, "sd_percent_ciliated": 5.7918, "z_score": 0.9005, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12.9, "sd_percent_ciliated": 12.9, "z_score": 12.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0991, "sd_percent_ciliated": -3.0991, "z_score": -3.0991, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MACIR", "ensembl_id": "ENSG00000181751", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "macrophage immunometabolism regulator [Source:HGNC Symbol,Acc:HGNC:25052]", "omim_id": "616608", "functional_summary": "MACIR has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Metabolism, Cell migration & adhesion, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15435", "domain_descriptions": "UNC119-binding protein", "string_link": "https://string-db.org/network/9606/ENSG00000181751", "synonym": "C5ORF30, FLJ25291", "ortholog_mouse": "Macir", "ortholog_xenopus": "macir", "ortholog_zebrafish": "macir", "screens": {} }, { "gene": "MAGI2", "ensembl_id": "ENSG00000187391", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced", "description": "membrane associated guanylate kinase, WW and PDZ domain containing 2 [Source:HGNC Symbol,Acc:HGNC:18957]", "omim_id": "606382", "functional_summary": "SANS-Magi2 complex mediates endocytosis and regulates aspects of ciliogenesis and/or mainte nce of primary cilia (24608321). Knock down of Magi2 diminished number of cells with a primary cilium. The few emerging primary cilia in shRNA Magi2-transfected … are shortened (0.73 µm …) compared with controls (1.28 µm …). (24608321)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "22110072, 21148103, 30955935, 24608321", "complex_components": ["DDN", "MAGI2", "SH3KBP1", "ADRB1"], "pfam_ids": ["PF00397", "PF16663", "PF00625", "PF00595"], "domain_descriptions": ["WW domain", "PDZ domain", "Guanylate kinase-like domain", "Guanylate kinase/L-type calcium channel beta subunit", "Guanylate kinase", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "WW domain superfamily", "PDZ superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000187391", "synonym": "ACVRIP1, AIP1, ARIP1, KIAA0705, MAGI-2", "ortholog_mouse": "Magi2", "ortholog_c_elegans": "magi-1", "ortholog_xenopus": "magi2", "ortholog_zebrafish": "magi2a, magi2b", "ortholog_drosophila": "Magi", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 9.59, "sd_percent_ciliated": 9.59, "z_score": 9.59, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6235, "sd_percent_ciliated": -3.6235, "z_score": -3.6235, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAK", "ensembl_id": "ENSG00000111837", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "male germ cell associated kinase [Source:HGNC Symbol,Acc:HGNC:6816]", "omim_id": "154235", "functional_summary": "Involved in the regulation of photoreceptor connecting cilium length. Mutations cause autosomal domi nt Retinitis Pigmentosa (22110072). Essential for the regulation of ciliary length, preventing excessive elongation of the cilia and is required for the long-term survival of photoreceptors (21148103). Forms a complex with DYF-5 to regulate cilia morphology ikely via modulation of microtubule stability (30955935).", "localization": "cilia, basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "22895261, 25967552, 21835304, 21825139", "complex_components": ["AR", "MAK", "NCOA3"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000111837", "synonym": "DJ417M14.2, RP62", "ortholog_mouse": "Mak", "ortholog_c_elegans": "dyf-5", "ortholog_xenopus": "mak", "ortholog_zebrafish": "mak", "ortholog_drosophila": "CG42366", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.8546, "sd_percent_ciliated": 2.9668, "z_score": 0.1024, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4347, "sd_percent_ciliated": -0.4347, "z_score": -0.4347, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAL", "ensembl_id": "ENSG00000172005", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "mal, T cell differentiation protein [Source:HGNC Symbol,Acc:HGNC:6817]", "omim_id": "188860", "functional_summary": "MAL overexpression is associated with shortened or absent cilia, abnormal cilium and cyst development. MAL may facilitate the organisation of apical cargo into microdomains to facilitate their targeting and trafficking (22895261). Involved in the proper condensation of membranes at the ciliary base, required for efficient primary cilium extension (25967552). MAL accumulates at the ciliary base … Knockdown of MAL expression resulted in … a drastic reduction … the percentage of ciliated cells and the length of the cilia. MAL is crucial for proper membrane condensation at the ciliary base, which is required for primary cilium elongation. (25967552)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology", "reference": "24343661, 25967552 ,22895261", "complex_components": ["IRAK2", "MAL"], "pfam_ids": "PF01284", "domain_descriptions": ["Marvel domain", "Myelin and lymphocyte (MAL) protein", "MARVEL domain-containing and chemokine-like factor proteins"], "string_link": "https://string-db.org/network/9606/ENSG00000172005", "synonym": "MVP17, VIP17", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mal", "ortholog_xenopus": "LOC100494563, mal, XB5862139", "ortholog_zebrafish": "mala.1, mala.2, malb, zgc:101772", "ortholog_drosophila": "CG1572", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.4908, "sd_percent_ciliated": 7.634, "z_score": -0.5474 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.54, "sd_percent_ciliated": 2.54, "z_score": 2.54 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9045, "sd_percent_ciliated": -5.9045, "z_score": -5.9045 } ] }, { "gene": "MANF", "ensembl_id": "ENSG00000145050", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mesencephalic astrocyte derived neurotrophic factor [Source:HGNC Symbol,Acc:HGNC:15461]", "omim_id": "601916", "functional_summary": "MANF can protect cilia of DA neurons at an early stage, suggested that MANF participated in the whole process of neuro l degeneration ( 29959908).", "localization": "Ciliary associated gene, Endoplasmic, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.9959908E7", "complex_components": {}, "pfam_ids": ["PF10208", "PF20145"], "domain_descriptions": ["ARMET", "C-terminal", "SAP domain superfamily", "ARMET", "N-terminal", "ARMET-like"], "string_link": "https://string-db.org/network/9606/ENSG00000145050", "synonym": "ARMET, ARP", "ortholog_mouse": "Manf", "ortholog_c_elegans": "manf-1", "ortholog_xenopus": "manf", "ortholog_zebrafish": "manf", "ortholog_drosophila": "Manf", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0689, "sd_percent_ciliated": 0.0689, "z_score": 0.0689, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5707, "sd_percent_ciliated": -5.5707, "z_score": -5.5707, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP1A", "ensembl_id": "ENSG00000166963", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein 1A [Source:HGNC Symbol,Acc:HGNC:6835]", "omim_id": "600178", "functional_summary": "MAP1A has localized in flagella.", "localization": "flagella, Cytosol", "functional_category": "Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF23415", "domain_descriptions": ["Microtubule associated protein 1", "Ribonuclease Z/Hydroxyacylglutathione hydrolase-like", "Microtubule-associated protein 1B/S", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000166963", "synonym": "MAP1L", "ortholog_mouse": "Map1a", "ortholog_xenopus": "map1a", "ortholog_zebrafish": "map1aa, map1ab", "ortholog_drosophila": "futsch", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.5978, "sd_percent_ciliated": 10.6219, "z_score": -0.5345, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.5066, "sd_percent_ciliated": -7.5066, "z_score": -7.5066, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP1LC3A", "ensembl_id": "ENSG00000101460", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein 1 light chain 3 alpha [Source:HGNC Symbol,Acc:HGNC:6838]", "omim_id": "601242", "functional_summary": "Also known as LC3. Interacts with OFD1 and removes it from the centriolar satellite to initiate primary cilium biogenesis (24343661)", "localization": "basal body, flagella, cilia, Autophagosomes, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "21768326, 17600711", "complex_components": ["CHDH", "MAP1LC3A", "SQSTM1", "OFD1", "PCM1"], "pfam_ids": "PF02991", "domain_descriptions": ["Autophagy protein Atg8 ubiquitin-like", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101460", "synonym": "ATG8E, LC3, LC3A, MAP1ALC3, MAP1BLC3", "ortholog_mouse": "Map1lc3a", "ortholog_c_elegans": "lgg-2", "ortholog_xenopus": "map1lc3a", "ortholog_zebrafish": "map1lc3a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.2694, "sd_percent_ciliated": 9.9269, "z_score": 0.0315 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.25, "sd_percent_ciliated": 1.25, "z_score": 1.25 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.9571, "sd_percent_ciliated": -2.9571, "z_score": -2.9571 } ] }, { "gene": "MAP1LC3B", "ensembl_id": "ENSG00000140941", "overexpression_effects": "Not Reported", "lof_effects": "Likely decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein 1 light chain 3 beta [Source:HGNC Symbol,Acc:HGNC:13352]", "omim_id": "609604", "functional_summary": "MAP1LC3B has localized in primary cilia. Autophagic mechanism of LC3B in nucleus regulates ciliary differentiation and function. (34917923) Cilium length correlates with LC3B-II/-I ratio. (25906314) Map1lc3B–/– mice protected from cilia shortening under CS exposure. (33136096)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 34917923, 25906314, 33136096 ,33136096 *", "complex_components": {}, "pfam_ids": "PF02991", "domain_descriptions": ["Autophagy protein Atg8 ubiquitin-like", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000140941", "synonym": "ATG8F", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Map1lc3b", "ortholog_c_elegans": "lgg-2", "ortholog_xenopus": "map1lc3b", "ortholog_zebrafish": "map1lc3b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.3271, "sd_percent_ciliated": 3.6061, "z_score": -1.2942, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.09, "sd_percent_ciliated": 3.09, "z_score": 3.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.143, "sd_percent_ciliated": -0.143, "z_score": -0.143, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP1LC3B2", "ensembl_id": "ENSG00000258102", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein 1 light chain 3 beta 2 [Source:HGNC Symbol,Acc:HGNC:34390]", "omim_id": "620673", "functional_summary": "MAP1LC3B2 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02991", "domain_descriptions": ["Autophagy protein Atg8 ubiquitin-like", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000258102", "synonym": "ATG8G", "ortholog_mouse": "Map1lc3b", "ortholog_c_elegans": "lgg-2", "ortholog_xenopus": "map1lc3b", "ortholog_zebrafish": "map1lc3b", "screens": {} }, { "gene": "MAP2", "ensembl_id": "ENSG00000078018", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein 2 [Source:HGNC Symbol,Acc:HGNC:6839]", "omim_id": "157130", "functional_summary": "MAP2 has localized in basal body.", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF08377", "PF00418", "PF10522"], "domain_descriptions": ["Microtubule associated protein", "tubulin-binding repeat", "MAP2/Tau projection", "Microtubule associated protein MAP2/MAP4/Tau", "RII binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000078018", "synonym": "MAP2A, MAP2B, MAP2C", "ortholog_mouse": "Map2", "ortholog_xenopus": "map2", "ortholog_zebrafish": "map2", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.6417, "sd_percent_ciliated": 12.9574, "z_score": -1.4984 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.104, "sd_percent_ciliated": 0.104, "z_score": 0.104 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0822, "sd_percent_ciliated": -3.0822, "z_score": -3.0822 } ] }, { "gene": "MAP2K1", "ensembl_id": "ENSG00000169032", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase kinase 1 [Source:HGNC Symbol,Acc:HGNC:6840]", "omim_id": "176872", "functional_summary": "MAP2K1 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["LAMTOR2", "LAMTOR3", "MAP2K1", "BRAF", "MAP2K2", "YWHAE", "RAF1", "KSR1", "DIAPH1", "DVL2", "IQGAP1", "LGR4", "PTK2", "PXN", "RSPO3", "WASL", "NEK10", "WWOX", "PPARG", "ABL1", "BCR", "BCR/ABL fusion", "KSR2"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "MAP kinase kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000169032", "synonym": "MAPKK1, MEK1, MKK1, PRKMK1", "ortholog_mouse": "Map2k1", "ortholog_c_elegans": "mek-2", "ortholog_xenopus": "map2k1", "ortholog_zebrafish": "map2k1", "ortholog_drosophila": "Dsor1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.5451, "sd_percent_ciliated": 8.9905, "z_score": -0.2986 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.359, "sd_percent_ciliated": 0.359, "z_score": 0.359 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9798, "sd_percent_ciliated": -0.9798, "z_score": -0.9798 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3028, "sd_percent_ciliated": 0.3028, "z_score": 0.3028 } ] }, { "gene": "MAP2K2", "ensembl_id": "ENSG00000126934", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase kinase 2 [Source:HGNC Symbol,Acc:HGNC:6842]", "omim_id": "601263", "functional_summary": "After PDGFR伪伪 activation, both Mek1/2-Erk1/2 and Akt pathways were activated by phosphorylation beginning at 3 min of PDGF-AA stimulation . The increased level of Mek1/2 (by c-Raf-dependent Mek1/2 phosphorylation on serines 217 and 221 in the activation loop to activate Erk1/2) preferentially localized along and at the base of the cilium (16243034).", "localization": "basal body, Cytosol, Microbody, Nucleus, Peroxisome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.6243034E7", "complex_components": ["BRAF", "MAP2K1", "MAP2K2", "YWHAE", "DIAPH1", "DVL2", "IQGAP1", "LGR4", "PTK2", "PXN", "RSPO3", "WASL", "ABL1", "BCR", "BCR/ABL fusion"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "MAP kinase kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000126934", "synonym": "MEK2, MKK2, PRKMK2", "ortholog_mouse": "Map2k2", "ortholog_c_elegans": "mek-2", "ortholog_zebrafish": "map2k2a, map2k2b", "ortholog_drosophila": "Dsor1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.5335, "sd_percent_ciliated": 11.4826, "z_score": -0.1788 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.65, "sd_percent_ciliated": 1.65, "z_score": 1.65 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1175, "sd_percent_ciliated": -2.1175, "z_score": -2.1175 } ] }, { "gene": "MAP2K5", "ensembl_id": "ENSG00000137764", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase kinase 5 [Source:HGNC Symbol,Acc:HGNC:6845]", "omim_id": "602520", "functional_summary": "MAP2K5 has localized in basal body.", "localization": "cilia,basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["MAP2K5", "PRKCI", "SQSTM1", "CDC37", "HSP90AA1", "HSP90AB1", "HSPA4", "MAP3K3", "MARK2", "PDRG1", "PFDN2", "TRAF7", "YWHAB", "YWHAE", "YWHAG", "YWHAH", "YWHAQ", "YWHAZ", "PRKCD"], "pfam_ids": ["PF00069", "PF00564"], "domain_descriptions": ["PB1 domain", "Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Dual specificity mitogen-activated protein kinase kinase 5", "PB1 domain", "Dual specificity MAP kinase kinase", "PB1-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000137764", "synonym": "HST17454, MAPKK5, MEK5, PRKMK5", "ortholog_mouse": "Map2k5", "ortholog_xenopus": "map2k5", "ortholog_zebrafish": "map2k5", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.7701, "sd_percent_ciliated": 15.8815, "z_score": 0.0922, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2898, "sd_percent_ciliated": 0.2898, "z_score": 0.2898, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP3K12", "ensembl_id": "ENSG00000139625", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase kinase kinase 12 [Source:HGNC Symbol,Acc:HGNC:6851]", "omim_id": "600447", "functional_summary": "Multiple regulators constrain the abundance of Caenorhabditis elegans DLK-1 in ciliated sensory neurons(39854273).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "3.9854273E7", "complex_components": {}, "pfam_ids": "PF07714", "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Mitogen-activated protein kinase kinase kinase 12/13", "Mitogen-activated protein kinase kinase kinase 12", "Serine/Threonine Kinases and Pseudokinases"], "string_link": "https://string-db.org/network/9606/ENSG00000139625", "synonym": "DLK, MEKK12, MUK, ZPK, ZPKP1", "ortholog_mouse": "Map3k12", "ortholog_c_elegans": "dlk-1", "ortholog_xenopus": "map3k12", "ortholog_zebrafish": "map3k12", "ortholog_drosophila": "wnd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.7022, "sd_percent_ciliated": 2.1166, "z_score": 0.8109 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.52, "sd_percent_ciliated": 1.52, "z_score": 1.52 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1506, "sd_percent_ciliated": -0.1506, "z_score": -0.1506 } ] }, { "gene": "MAP4", "ensembl_id": "ENSG00000047849", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "microtubule associated protein 4 [Source:HGNC Symbol,Acc:HGNC:6862]", "omim_id": "157132", "functional_summary": "MAP4 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00418", "domain_descriptions": ["Microtubule associated protein", "tubulin-binding repeat", "Microtubule associated protein MAP2/MAP4/Tau"], "string_link": "https://string-db.org/network/9606/ENSG00000047849", "ortholog_mouse": "Map4", "ortholog_c_elegans": "ptl-1", "ortholog_xenopus": "map4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.56, "sd_percent_ciliated": 2.56, "z_score": 2.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3815, "sd_percent_ciliated": -2.3815, "z_score": -2.3815, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP4K3", "ensembl_id": "ENSG00000011566", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase kinase kinase kinase 3 [Source:HGNC Symbol,Acc:HGNC:6865]", "omim_id": "604921", "functional_summary": "GCK-2 (a MAP4K3 homolog) largely colocalized with OSM-3 and KAP-1 (29378827)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.9378827E7", "complex_components": {}, "pfam_ids": ["PF00780", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Citron homology (CNH) domain", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein (MAP) kinase kinase kinase kinase", "STE20/SPS1-related Proline-Alanine-rich Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000011566", "synonym": "GLK, MAPKKKK3, RAB8IPL1", "ortholog_mouse": "Map4k3", "ortholog_c_elegans": "gck-2", "ortholog_xenopus": "map4k3", "ortholog_zebrafish": "map4k3a, map4k3b", "ortholog_drosophila": "hppy", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.9094, "sd_percent_ciliated": 0.5475, "z_score": 0.7148 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.74, "sd_percent_ciliated": 0.74, "z_score": 0.74 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3606, "sd_percent_ciliated": -0.3606, "z_score": -0.3606 } ] }, { "gene": "MAP4K5", "ensembl_id": "ENSG00000012983", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase kinase kinase kinase 5 [Source:HGNC Symbol,Acc:HGNC:6867]", "omim_id": "604923", "functional_summary": "MAP4K5 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00069", "PF00780"], "domain_descriptions": ["Protein kinase domain", "Citron homology (CNH) domain", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein (MAP) kinase kinase kinase kinase", "STE20/SPS1-related Proline-Alanine-rich Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000012983", "synonym": "GCKR, KHS, KHS1", "ortholog_mouse": "Gckr, Map4k5", "ortholog_c_elegans": "gck-2", "ortholog_xenopus": "gckr, map4k5", "ortholog_zebrafish": "gckr, map4k5", "ortholog_drosophila": "hppy", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.0438, "sd_percent_ciliated": 0.7742, "z_score": -0.9651 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.53, "sd_percent_ciliated": 0.53, "z_score": 0.53 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.749, "sd_percent_ciliated": -2.749, "z_score": -2.749 } ] }, { "gene": "MAP6D1", "ensembl_id": "ENSG00000180834", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "MAP6 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:25753]", "omim_id": "610593", "functional_summary": "In vertebrates the microtubule-associated proteins MAP6 and MAP6d1 stabilize cold-resistant (22355359). MAP6d1 assembles stable microtubule doublets by recruiting tubulin dimers onto the lattice of the A-tubule to initiate the nucleation of the B-tubule. In neurons, MAP6d1 localises to the proximal part of primary cilia via its Mn-motif, with its loss resulting in shortened cilia, a characteristic of ciliopathies. (40617876) Deletion of MAP6D1 in neurons leads to shortened primary cilia and defective Sonic Hedgehog signalling, a hallmark of ciliopathies. (40617876)", "localization": "cilia, basal body, transition zone, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "22355359, 40617876", "complex_components": {}, "pfam_ids": "PF21410", "domain_descriptions": "Microtubule-associated protein 6", "string_link": "https://string-db.org/network/9606/ENSG00000180834", "synonym": "FLJ12748, SL21", "ortholog_mouse": "Map6d1", "ortholog_zebrafish": "map6d1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.01, "sd_percent_ciliated": 1.01, "z_score": 1.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2558, "sd_percent_ciliated": -2.2558, "z_score": -2.2558, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP7D3", "ensembl_id": "ENSG00000129680", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MAP7 domain containing 3 [Source:HGNC Symbol,Acc:HGNC:25742]", "omim_id": "300930", "functional_summary": "MAP7D3 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF05672", "domain_descriptions": ["Microtubule-associated protein 7 family", "Microtubule-associated protein 7 domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000129680", "synonym": "FLJ12649", "ortholog_mouse": "Map7d3", "ortholog_xenopus": "map7d3", "ortholog_zebrafish": "map7d3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.33, "sd_percent_ciliated": 2.33, "z_score": 2.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.7305, "sd_percent_ciliated": 2.7305, "z_score": 2.7305, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAP9", "ensembl_id": "ENSG00000164114", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein 9 [Source:HGNC Symbol,Acc:HGNC:26118]", "omim_id": "610070", "functional_summary": "MAP9, origi lly identified as a MT-binding protein stabilizing MT structure during both mitosis and interphase in human cell lines (16049101). MAP9 has a role in the formation and function of primary cilia, specific expression of the C. elegans MAP9 ortholog MAPH-9 in ciliated sensory neurons (27930654, 33798428), map9 depletion induced developmental abnormalities related to cilia-dependent sig ling pathways in zebrafish (24553125), and MAP9 localized in the photoreceptor CC region of canine reti (28993665). MAP9 is prominently localized in the basal body of primary cilia and played an important role in maintaining the structure of ciliary microtubule axoneme(37650070).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "16049101 , 27930654 , 33798428 , 24553125 , 28993665 , 37650070", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000164114", "synonym": "ASAP, FLJ21159", "ortholog_mouse": "Map9", "ortholog_c_elegans": "maph-9", "ortholog_xenopus": "map9", "ortholog_zebrafish": "map9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.688, "sd_percent_ciliated": 0.688, "z_score": 0.688, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1204, "sd_percent_ciliated": -2.1204, "z_score": -2.1204, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAPK1", "ensembl_id": "ENSG00000100030", "overexpression_effects": "Not Reported", "lof_effects": "Suppresses ciliogenesis", "percent_ciliated_cells_effects": "Increased", "description": "mitogen-activated protein kinase 1 [Source:HGNC Symbol,Acc:HGNC:6871]", "omim_id": "176948", "functional_summary": "ERK2. Downstream of TGFBR1 and 2, which phosphorylate ERK1/2 at base of cilium upon TGFB stimulation", "localization": "basal body, cilia, Autophagosomes, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "29021280, 25823377", "complex_components": ["HDAC4", "MAPK1", "LAMTOR2", "LAMTOR3", "KDR", "MAPK3", "PRKCA", "S1PR1", "S1PR2", "S1PR3", "S1PR5", "PDGFRB", "PTK2", "PXN", "ARHGEF2", "BLVRA", "PRKCD", "CD44", "HMMR", "CDC37", "HSP90AA1", "MAPK11"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Mitogen-activated protein (MAP) kinase", "conserved site", "Serine/threonine-protein kinase", "active site", "Mitogen-activated protein (MAP) kinase", "ERK1/2", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000100030", "synonym": "ERK, ERK2, MAPK2, P41MAPK, PRKM1, PRKM2", "ortholog_mouse": "Mapk1", "ortholog_c_elegans": "mpk-1", "ortholog_xenopus": "mapk1", "ortholog_zebrafish": "mapk1", "ortholog_drosophila": "rl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.4514, "sd_percent_ciliated": 13.5038, "z_score": 0.2959 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.41, "sd_percent_ciliated": 8.41, "z_score": 8.41 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.9553, "sd_percent_ciliated": -1.9553, "z_score": -1.9553 } ] }, { "gene": "MAPK14", "ensembl_id": "ENSG00000112062", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase 14 [Source:HGNC Symbol,Acc:HGNC:6876]", "omim_id": "600289", "functional_summary": "Upon FGF10 stimulation, the activated FGFR2 initiates the downstream sig ling by phosphorylation (p) of FRS2, MEK1, ERK1/2, and p38(MAPK14 ) within the cilium, which results in transcription of the target genes(40257378).", "localization": "cilia, Autophagosomes, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "4.0257378E7", "complex_components": ["AKAP13", "MAP2K3", "MAP3K20", "MAPK14", "PKN1", "AKT1", "HSPB1", "MAPKAPK2", "MAPKAPK3"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Mitogen-activated protein (MAP) kinase", "conserved site", "Mitogen-activated protein (MAP) kinase p38-like", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein kinase", "Mitogen-activated protein kinase 14"], "string_link": "https://string-db.org/network/9606/ENSG00000112062", "synonym": "CSBP1, CSBP2, CSPB1, MXI2, P38, PRKM14, PRKM15", "ortholog_mouse": "Mapk14", "ortholog_c_elegans": "pmk-1, pmk-2", "ortholog_xenopus": "mapk14", "ortholog_zebrafish": "mapk14a, mapk14b", "ortholog_drosophila": "p38a, p38b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.6876, "sd_percent_ciliated": 4.2424, "z_score": 0.4457, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 42.3, "sd_percent_ciliated": 42.3, "z_score": 42.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0761, "sd_percent_ciliated": -5.0761, "z_score": -5.0761, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAPK15", "ensembl_id": "ENSG00000181085", "overexpression_effects": "Not Reported", "lof_effects": "Reduced ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase 15 [Source:HGNC Symbol,Acc:HGNC:24667]", "omim_id": "618616", "functional_summary": "Regulates motile and primary cilia formation, and the localisation of ciliary proteins involved in cilium structure, sig ling and trasport like BBS7 and ARL-13 (29021280). Required for basal body migration and apical actin organisation in multiciliated cells, it is also important for left-right axis specification. Phosphorylates CapZIP, in cooperation with Dishevelled (25823377).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "2.3746451E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000181085", "synonym": "ERK7, ERK8", "ortholog_mouse": "Mapk15", "ortholog_c_elegans": "mapk-15", "ortholog_xenopus": "mapk15", "ortholog_zebrafish": "mapk15", "ortholog_drosophila": "Erk7", "screens": {} }, { "gene": "MAPK3", "ensembl_id": "ENSG00000102882", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase 3 [Source:HGNC Symbol,Acc:HGNC:6877]", "omim_id": "601795", "functional_summary": "ERK1. Downstream of TGFBR1 and 2, which phosphorylate ERK1/2 at base of cilium upon TGFB stimulation", "localization": "basal body, cilia, Autophagosomes, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "23727834, 26263164", "complex_components": ["HDAC4", "MAPK3", "KPNA2", "VIM", "KDR", "MAPK1", "PRKCA", "S1PR1", "S1PR2", "S1PR3", "S1PR5", "PDGFRB", "ARHGEF2", "PXN", "CD44", "HMMR", "CDC37", "HSP90AA1", "MAPK11"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Mitogen-activated protein (MAP) kinase", "conserved site", "Serine/threonine-protein kinase", "active site", "Mitogen-activated protein (MAP) kinase", "ERK1/2", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000102882", "synonym": "ERK1, P44ERK1, P44MAPK, PRKM3", "ortholog_mouse": "Mapk3", "ortholog_c_elegans": "mpk-1", "ortholog_zebrafish": "mapk3", "ortholog_drosophila": "rl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.5408, "sd_percent_ciliated": 0.9354, "z_score": -0.0568 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5286, "sd_percent_ciliated": -2.5286, "z_score": -2.5286 } ] }, { "gene": "MAPK6", "ensembl_id": "ENSG00000069956", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase 6 [Source:HGNC Symbol,Acc:HGNC:6879]", "functional_summary": "MAPK6 has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["HERC2", "MAPK6", "NEURL4", "UBE3A", "MAPKAPK5", "SEPTIN7"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Mitogen-activated protein (MAP) kinase", "ERK3/4", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Mitogen-activated protein kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000069956", "synonym": "ERK3, HST17250, P97MAPK, PRKM6", "ortholog_mouse": "Mapk6", "ortholog_xenopus": "mapk6", "ortholog_zebrafish": "mapk6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.6683, "sd_percent_ciliated": 3.7469, "z_score": -0.2836 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.11, "sd_percent_ciliated": 0.11, "z_score": 0.11 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1811, "sd_percent_ciliated": -2.1811, "z_score": -2.1811 } ] }, { "gene": "MAPKAP1", "ensembl_id": "ENSG00000119487", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "MAPK associated protein 1 [Source:HGNC Symbol,Acc:HGNC:18752]", "omim_id": "610558", "functional_summary": "Also known as SIN1. Component of the mTOR complex 2. Interacts with CCDC28B to regulate cilia length and inhibits MEKK2, which activates different MAPKs that have been implicated in the regulation of IFT and ciliogenesis (23727834, 26263164).", "localization": "basal body ,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "2.8498859E7", "complex_components": ["MAPKAP1", "MLST8", "MTOR", "RICTOR", "PRR5", "PRR5L"], "pfam_ids": ["PF05422", "PF16978", "PF16979"], "domain_descriptions": ["TORC2 component Sin1/Avo1", "PH-like domain superfamily", "SAPK-interacting protein 1", "Pleckstrin-homology domain", "Sin1", "middle CRIM domain", "Sin1", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000119487", "synonym": "MGC2745, MIP1, SIN1", "ortholog_mouse": "Mapkap1", "ortholog_c_elegans": "sinh-1", "ortholog_xenopus": "mapkap1", "ortholog_zebrafish": "mapkap1", "ortholog_drosophila": "Sin1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.3377, "sd_percent_ciliated": 6.3364, "z_score": 1.1302 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.52, "sd_percent_ciliated": 6.52, "z_score": 6.52 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.8619, "sd_percent_ciliated": -5.8619, "z_score": -5.8619 } ] }, { "gene": "MAPKAPK2", "ensembl_id": "ENSG00000162889", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MAPK activated protein kinase 2 [Source:HGNC Symbol,Acc:HGNC:6887]", "omim_id": "602006", "functional_summary": "MAPKAPK2 has localized in basal body.", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AKT1", "HSPB1", "MAPK14", "MAPKAPK2"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "MAP kinase activated protein kinase", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000162889", "synonym": "MK2", "ortholog_mouse": "Mapkapk2", "ortholog_c_elegans": "mak-2", "ortholog_xenopus": "mapkapk2", "ortholog_zebrafish": "mapkapk2a, mapkapk2b", "ortholog_drosophila": "MAPk-Ak2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.5592, "sd_percent_ciliated": 8.6168, "z_score": 0.1878, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9983, "sd_percent_ciliated": -2.9983, "z_score": -2.9983, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAPKBP1", "ensembl_id": "ENSG00000137802", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "mitogen-activated protein kinase binding protein 1 [Source:HGNC Symbol,Acc:HGNC:29536]", "omim_id": "616786", "functional_summary": "While wild-type MAPKBP1 exhibited centrosomal, basal body, and microtubule association, mutant proteins lost the latter and showed reduced recruitment to cell cycle dependent centriolar structures (32505465).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "32505465, 28089251 ,28089251", "complex_components": {}, "pfam_ids": ["PF24795", "PF24782", "PF24780", "PF08662", "PF00400"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Mitogen-activated protein kinase-binding protein 1", "MABP1/WDR62", "first WD40 domain", "MABP1/WDR62", "second WD40 domain", "MABP1/WRD62", "coiled-coil domain", "Quinoprotein alcohol dehydrogenase-like superfamily", "Translation initiation factor", "beta propellor-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000137802", "synonym": "KIAA0596, NPHP20", "ciliopathy": "Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mapkbp1", "ortholog_c_elegans": "wdr-62", "ortholog_xenopus": "mapkbp1", "ortholog_zebrafish": "mapkbp1", "ortholog_drosophila": "Wdr62", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.42, "sd_percent_ciliated": 1.42, "z_score": 1.42, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.418, "sd_percent_ciliated": -2.418, "z_score": -2.418, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAPRE1", "ensembl_id": "ENSG00000101367", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein RP/EB family member 1 [Source:HGNC Symbol,Acc:HGNC:6890]", "omim_id": "603108", "functional_summary": "Also known as EB1. Required for assembly of primary cilia, interacting with proteins implicated in microtubule minus-end anchoring at the centrosome to facilitate vesicular trafficking to the cilia base (21768326, 17600711).", "localization": "basal body, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "23746451 ,21768326", "complex_components": ["AKAP9", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "PRKACA", "PRKAR2A", "PRKAR2B"], "pfam_ids": ["PF00307", "PF03271"], "domain_descriptions": ["Calponin homology domain", "EB1", "C-terminal", "Microtubule-associated protein RP/EB", "EB1", "C-terminal domain superfamily", "CH domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101367", "synonym": "EB1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mapre1", "ortholog_c_elegans": "ebp-1, ebp-2, ebp-3", "ortholog_xenopus": "mapre1", "ortholog_zebrafish": "mapre1a, mapre1b", "ortholog_drosophila": "CG32371, EB-SUN, Eb1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.5495, "sd_percent_ciliated": 12.3396, "z_score": -0.9038 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.6, "sd_percent_ciliated": 5.6, "z_score": 5.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0667, "sd_percent_ciliated": -1.0667, "z_score": -1.0667 } ] }, { "gene": "MAPRE3", "ensembl_id": "ENSG00000084764", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein RP/EB family member 3 [Source:HGNC Symbol,Acc:HGNC:6892]", "omim_id": "605788", "functional_summary": "AIPL1 and the EB proteins, EB1 and EB3, localize at the connecting cilia of reti l photoreceptor cells, but do not co-localize in the cellular microtubule network or in cilia in non-reti l cells (25799540).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.579954E7", "complex_components": ["AKAP9", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "PRKACA", "PRKAR2A", "PRKAR2B"], "pfam_ids": ["PF00307", "PF03271"], "domain_descriptions": ["Calponin homology domain", "EB1", "C-terminal", "Microtubule-associated protein RP/EB", "EB1", "C-terminal domain superfamily", "CH domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000084764", "synonym": "EB3, RP3", "ortholog_mouse": "Mapre3", "ortholog_c_elegans": "ebp-1, ebp-2, ebp-3", "ortholog_xenopus": "mapre3", "ortholog_zebrafish": "mapre3a, mapre3b", "ortholog_drosophila": "CG32371, EB-SUN, Eb1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 49.5679, "sd_percent_ciliated": 8.5356, "z_score": 1.4004, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.63, "sd_percent_ciliated": 5.63, "z_score": 5.63, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.2149, "sd_percent_ciliated": -7.2149, "z_score": -7.2149, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MAPT", "ensembl_id": "ENSG00000186868", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated protein tau [Source:HGNC Symbol,Acc:HGNC:6893]", "omim_id": "157140", "functional_summary": "MAPT localized to flagella (25613900)", "localization": "flagella, Cytosol, Microtubules, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": ["HSPA8", "MAPT", "STUB1", "UBE2D2", "SGK1", "YWHAQ", "SNCA", "FYN", "LRP1", "PRKN"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000186868", "synonym": "DDPAC, FLJ31424, FTDP-17, MAPTL, MGC138549, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, TAU-40, TAU-PHF6", "ortholog_mouse": "Mapt", "ortholog_xenopus": "mapt", "ortholog_zebrafish": "mapta, maptb", "ortholog_drosophila": "tau", "screens": {} }, { "gene": "MARCHF7", "ensembl_id": "ENSG00000136536", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "membrane associated ring-CH-type finger 7 [Source:HGNC Symbol,Acc:HGNC:17393]", "omim_id": "613334", "functional_summary": "E3 ubiquitin ligase, works with USP9X to ubiquiti te NPHP5 and regulate ciliogenesis (28498859).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "2.3400999E7", "complex_components": {}, "pfam_ids": "PF12906", "domain_descriptions": ["Zinc finger", "RING-CH-type", "Zinc finger", "RING/FYVE/PHD-type", "RING-CH-type E3 ubiquitin-protein ligase", "Zinc finger", "RING-type"], "string_link": "https://string-db.org/network/9606/ENSG00000136536", "synonym": "AXOT, MARCH-VII, MARCH7, RNF177", "ortholog_mouse": "Marchf7", "ortholog_xenopus": "marchf7", "ortholog_zebrafish": "marchf7", "screens": {} }, { "gene": "MARCKS", "ensembl_id": "ENSG00000277443", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "myristoylated alanine rich protein kinase C substrate [Source:HGNC Symbol,Acc:HGNC:6759]", "omim_id": "177061", "functional_summary": "Loss of Marcks blocks the targeting of CDC42 to ciliogenesis sites, thereby impairing the vesicular transport essential for cilium assembly. As a result, cells exhibit either absent or shortened cilia., MARCKS has localized in primary cilia.", "localization": "cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism", "reference": "https://doi.org/10.1101/2025.05.03.652041", "complex_components": {}, "pfam_ids": "PF02063", "domain_descriptions": "Myristoylated alanine-rich C-kinase substrate MARCKS", "string_link": "https://string-db.org/network/9606/ENSG00000277443", "synonym": "80K-L, MACS, PKCSL", "ortholog_mouse": "Marcks", "ortholog_xenopus": "marcks", "ortholog_zebrafish": "marcksa, marcksb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.0486, "sd_percent_ciliated": 2.9692, "z_score": 0.974 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.31, "sd_percent_ciliated": 1.31, "z_score": 1.31 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2044, "sd_percent_ciliated": 0.2044, "z_score": 0.2044 } ] }, { "gene": "MARK4", "ensembl_id": "ENSG00000007047", "overexpression_effects": "Not Reported", "lof_effects": "Impaired ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule affinity regulating kinase 4 [Source:HGNC Symbol,Acc:HGNC:13538]", "omim_id": "606495", "functional_summary": "Required for initiation of axoneme extension during early ciliogenesis, after the docking of Rab8a-positive vesicles to the mother centriole. Regulates ODF2 localisation to the centriole (23400999).", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6167768E7", "complex_components": {}, "pfam_ids": ["PF00069", "PF00627", "PF02149"], "domain_descriptions": ["Protein kinase domain", "Protein kinase-like domain superfamily", "Kinase associated domain 1 (KA1)", "Serine/threonine-protein kinase", "active site", "Ubiquitin-associated domain", "Protein kinase", "ATP binding site", "KA1 domain/Ssp2", "C-terminal", "Serine/threonine-protein kinase MARK 1-4", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000007047", "synonym": "FLJ90097, KIAA1860, MARKL1, NBLA00650, PAR-1D", "ortholog_mouse": "Mark4", "ortholog_c_elegans": "par-1", "ortholog_xenopus": "mark4", "ortholog_zebrafish": "mark4a, mark4b", "ortholog_drosophila": "par-1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.0725, "z_score": -1.4236, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 23.768, "z_score": -1.7254, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.6032 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.131, "z_score": 0.131, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.131 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3965, "z_score": -2.3965, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.3965 } ] }, { "gene": "MARS1", "ensembl_id": "ENSG00000166986", "overexpression_effects": "Not Reported", "lof_effects": "Reduced cilia length", "percent_ciliated_cells_effects": "Not Reported", "description": "methionyl-tRNA synthetase 1 [Source:HGNC Symbol,Acc:HGNC:6898]", "omim_id": "156560", "functional_summary": "MARS1 has localized in flagella.", "localization": "flagella", "functional_category": "Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["AIMP1", "AIMP2", "DARS1", "EEF1E1", "EPRS1", "IARS1", "KARS1", "LARS1", "MARS1", "QARS1", "RARS1"], "pfam_ids": ["PF18485", "PF00458", "PF09334", "PF00043", "PF19303"], "domain_descriptions": ["Thioredoxin-like superfamily", "Methionine--tRNA ligase", "N-terminal", "WHEP-TRS domain", "Aminoacyl-tRNA synthetase", "class I", "conserved site", "Glutathione S-transferase", "C-terminal", "uS15/NS1", "RNA-binding domain superfamily", "Aminoacyl-tRNA synthetase", "class Ia", "anticodon-binding", "Glutathione S-transferase", "C-terminal-like", "Rossmann-like alpha/beta/alpha sandwich fold", "Methionyl-tRNA synthetase", "Methionyl/Leucyl tRNA synthetase", "Methionine-tRNA ligase", "type 1", "Methionyl-tRNA synthetase", "Zn-domain", "Methioninyl-tRNA synthetase core domain", "Glutathione S-transferase", "C-terminal domain superfamily", "Methionyl-tRNA synthetase", "anticodon-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000166986", "synonym": "CMT2U, MARS, METRS, SPG70", "ortholog_mouse": "Mars1", "ortholog_c_elegans": "mars-1", "ortholog_xenopus": "mars1", "ortholog_zebrafish": "mars1", "ortholog_drosophila": "MetRS", "screens": {} }, { "gene": "MAS1", "ensembl_id": "ENSG00000130368", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MAS1 proto-oncogene, G protein-coupled receptor [Source:HGNC Symbol,Acc:HGNC:6899]", "omim_id": "165180", "functional_summary": "Neuro l ciliary GPCR. Galanin receptor.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25048963, 22231168, 26933123", "complex_components": ["AGTR1", "MAS1", "AGTR2", "BDKRB2"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Proto-oncogene Mas", "GPCR", "rhodopsin-like", "7TM", "Mas-related G protein-coupled receptor family"], "string_link": "https://string-db.org/network/9606/ENSG00000130368", "ortholog_mouse": "Mas1", "ortholog_xenopus": "LOC116411741, mas1, mas1l", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.034, "sd_percent_ciliated": 10.8974, "z_score": 0.4876, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.1445, "sd_percent_ciliated": -6.1445, "z_score": -6.1445, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MC4R", "ensembl_id": "ENSG00000166603", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "melanocortin 4 receptor [Source:HGNC Symbol,Acc:HGNC:6932]", "omim_id": "155541", "functional_summary": "The melanocortin 4 receptor (MC4R) is a Gs-coupled GPCR that transduces anorexigenic sig ls in the long-term regulation of energy homeostasis (26814590). Heterozygous mutations in MC4R in humans and deletion of MC4R in mice are the most common monogenic cause of severe obesity , and individuals with homozygous null mutations display severe early-onset obesity (10903341, 9019399). In ciliated cells, MC4R localized to primary cilia (29311635).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "26814590 , 10903341 , 9019399 , 29311635 ,29311635", "complex_components": ["MC4R", "NPBWR1", "HTR1B", "GPR83", "MRAP", "MRAP2", "ARRB1", "SLC16A2", "MGRN1"], "pfam_ids": "PF00001", "domain_descriptions": ["Melanocortin 4 receptor", "G protein-coupled receptor", "rhodopsin-like", "Melanocortin/ACTH receptor", "Melanocortin receptor 3-5", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000166603", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mc4r", "ortholog_xenopus": "mc4r", "ortholog_zebrafish": "mc4r", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.9086, "sd_percent_ciliated": 3.642, "z_score": -0.2545 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.7025, "sd_percent_ciliated": -5.7025, "z_score": -5.7025 } ] }, { "gene": "MCC", "ensembl_id": "ENSG00000171444", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MCC regulator of WNT signaling pathway [Source:HGNC Symbol,Acc:HGNC:6935]", "omim_id": "159350", "functional_summary": "When overexpressed, MCC has been shown to bind 尾-catenin (CTNNB1) in the nucleus to negatively regulate canonical WNT sig ling in cancer cell lines and to inhibit cell proliferation (18591935, 24824780). MCC colocalized with PCNT at pericentriolar material (PCM) and colocalized with NINEIN, CEP170, NDE1, CEP131, and NHERF1 at the centrosome. MCC is a centrosomal protein that relocalizes to non-centrosomal apical sites during intesti l cell differentiation (36217793).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion", "reference": "18591935 , 24824780 , 36217793", "complex_components": ["CHUK", "CUL1", "FBXW11", "IKBKB", "IKBKG", "IQGAP2", "KPNA2", "LRPPRC", "MCC", "MTIF2", "NFKB1", "NFKB2", "NFKBIB", "PDCD2", "POLR1A", "POLR1B", "POLR1D", "POLR1E", "POLR1G", "POLR2H", "POLR2L", "RASAL2", "REL", "RELA", "SKP1"], "pfam_ids": ["PF10506", "PF13499"], "domain_descriptions": ["Harmonin-binding protein USHBP1", "PDZ-binding domain", "Harmonin-binding protein USHBP1-like", "EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000171444", "ortholog_mouse": "Mcc", "ortholog_xenopus": "mcc", "ortholog_zebrafish": "mcc", "ortholog_drosophila": "CG34404", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.7482, "sd_percent_ciliated": 3.3723, "z_score": 0.5742, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0939, "sd_percent_ciliated": 0.0939, "z_score": 0.0939, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8745, "sd_percent_ciliated": -2.8745, "z_score": -2.8745, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MCHR1", "ensembl_id": "ENSG00000128285", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "melanin concentrating hormone receptor 1 [Source:HGNC Symbol,Acc:HGNC:4479]", "omim_id": "601751", "functional_summary": "Involved in the primary cilia shortening through a unique sig l from the ciliary membrane (32240710). Candidate ciliary GPCR (18256283).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "3.032908E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Melanin-concentrating hormone receptor 1", "Melanin-concentrating hormone receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000128285", "synonym": "GPR24, MCH1R, SLC1", "ortholog_mouse": "Mchr1", "ortholog_c_elegans": "npr-24", "ortholog_xenopus": "mchr1.2", "ortholog_zebrafish": "mchr1a, mchr1b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8087, "sd_percent_ciliated": -6.8087, "z_score": -6.8087, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MCHR2", "ensembl_id": "ENSG00000152034", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "melanin concentrating hormone receptor 2 [Source:HGNC Symbol,Acc:HGNC:20867]", "omim_id": "606111", "functional_summary": "MCHR2 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000152034", "synonym": "GPR145, MCH2, MCH2R, SLT", "ortholog_xenopus": "mchr2", "ortholog_zebrafish": "mchr2a, mchr2b", "screens": {} }, { "gene": "MCIDAS", "ensembl_id": "ENSG00000234602", "overexpression_effects": "Not Reported", "lof_effects": "Markedly decreased", "percent_ciliated_cells_effects": "Decreased", "description": "multiciliate differentiation and DNA synthesis associated cell cycle protein [Source:HGNC Symbol,Acc:HGNC:40050]", "omim_id": "614086", "functional_summary": "Promotes multiciliated cell formation during multiciliate cell differentiation. Mutations lead to severe axonemal defects, lack of ciliary motility- related proteins (25048963). Promotes the transcriptio l changes required for motile ciliogenesis and centriole assembly, it induces motile cilia outgrowth via FoxJ1, centriole assembly and basal body formation. Regulates the genes required for multiciliated cells differentiation (22231168, 26933123).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "32240710, 18256283, 25048963 ,25048963", "complex_components": ["CDT1", "GMNN", "MCIDAS"], "pfam_ids": "PF07412", "domain_descriptions": "Geminin/Multicilin", "string_link": "https://string-db.org/network/9606/ENSG00000234602", "synonym": "IDAS, MCI, MCIN", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mcidas", "ortholog_xenopus": "mcidas", "ortholog_zebrafish": "mcidas", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0825, "sd_percent_ciliated": 0.0825, "z_score": 0.0825, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "MCM2", "ensembl_id": "ENSG00000073111", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "minichromosome maintenance complex component 2 [Source:HGNC Symbol,Acc:HGNC:6944]", "omim_id": "116945", "functional_summary": "Function in transcriptio l regulation/inhibition of genes involved in ciliogenesis and centrosome duplication. Helps to control left-right asymmetry development in zebrafish, facilitates formation and hence proper function of motile and primary cilia. Likely controls cilia length . Loss of MCM2 promotes transcription of a subset of genes, which cause cilia shortening and centriole overduplication (30329080).", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Transcription regulation, Cilia length regulation", "reference": "2.7263857E7", "complex_components": ["Mcm2", "Mcm3", "Mcm4", "Mcm5", "Mcm6", "Mcm7", "MCM2", "MCM3", "MCM4", "MCM5", "MCM6", "MCM7", "BANF2", "C1QBP", "EMD", "H1-1", "H3C1", "HNRNPU", "LMNA", "LMNB1", "NMI", "RB1", "RBL2", "SAP130", "ASF1A", "H4C1", "DONSON", "PCNA", "TICRR", "CDYL", "CHAF1A", "CHAF1B", "EHMT2", "EZH2", "RBBP4", "SETDB1"], "pfam_ids": ["PF14551", "PF17855", "PF12619", "PF17207", "PF00493", "PF23669"], "domain_descriptions": ["MCM domain", "DNA replication licensing factor Mcm2", "Nucleic acid-binding", "OB-fold", "Mini-chromosome maintenance", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "MCM", "N-terminal domain", "Mini-chromosome maintenance protein", "MCM OB domain", "MCM", "AAA-lid domain"], "string_link": "https://string-db.org/network/9606/ENSG00000073111", "synonym": "BM28, CCNL1, CDC19, CDCL1, D3S3194, DFNA70, KIAA0030", "ortholog_mouse": "Ccnl1, Mcm2", "ortholog_c_elegans": "cyl-1, mcm-2", "ortholog_xenopus": "ccnl1, mcm2", "ortholog_zebrafish": "ccnl1a, ccnl1b, mcm2", "ortholog_drosophila": "CG16903, Mcm2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.9483, "sd_percent_ciliated": 2.4884, "z_score": -0.7343 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 16.5, "sd_percent_ciliated": 16.5, "z_score": 16.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.6618, "sd_percent_ciliated": -3.6618, "z_score": -3.6618 } ] }, { "gene": "MCM7", "ensembl_id": "ENSG00000166508", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "minichromosome maintenance complex component 7 [Source:HGNC Symbol,Acc:HGNC:6950]", "omim_id": "600592", "functional_summary": "MCM7 has localized in cilia. Loss of MCM7 gene cause supernumerary cilia(PMID: 37771269).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273 , 37771269", "complex_components": ["Mcm2", "Mcm3", "Mcm4", "Mcm5", "Mcm6", "Mcm7", "MCM2", "MCM3", "MCM4", "MCM5", "MCM6", "MCM7", "DONSON", "PCNA", "TICRR", "CDYL", "CHAF1A", "CHAF1B", "EHMT2", "EZH2", "RBBP4", "SETDB1"], "pfam_ids": ["PF24901", "PF17207", "PF00493", "PF17855", "PF14551"], "domain_descriptions": ["MCM domain", "AAA+ ATPase domain", "DNA replication licensing factor Mcm7", "Nucleic acid-binding", "OB-fold", "Mini-chromosome maintenance", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Mini-chromosome maintenance protein", "MCM OB domain", "MCM", "AAA-lid domain", "MCM", "N-terminal domain", "Mini-chromosome maintenance complex protein 4"], "string_link": "https://string-db.org/network/9606/ENSG00000166508", "synonym": "CDC47, MCM2, PPP1R104", "ortholog_mouse": "Mcm2, Mcm7", "ortholog_c_elegans": "mcm-2, mcm-7", "ortholog_xenopus": "mcm2, mcm7", "ortholog_zebrafish": "mcm2, mcm7", "ortholog_drosophila": "Mcm2, Mcm7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.3533, "sd_percent_ciliated": 3.3956, "z_score": -0.2006, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12.3, "sd_percent_ciliated": 12.3, "z_score": 12.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.652, "sd_percent_ciliated": -3.652, "z_score": -3.652, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MCRS1", "ensembl_id": "ENSG00000187778", "overexpression_effects": "Not Reported", "lof_effects": "Reduced ciliogenesis", "percent_ciliated_cells_effects": "Decreased", "description": "microspherule protein 1 [Source:HGNC Symbol,Acc:HGNC:6960]", "omim_id": "609504", "functional_summary": "Required for dynein- dependent cargo transport to the centrosome. Interacts with the dynein intermediate chain DYNC1I1, and plays an essential role in both the establishment of centriolar satellites and the initiation of primary cilium assembly. MCRS1 also mediates centriolar recruitment of TTBK2 (27263857).", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "23300604, 26337392, 27658201", "complex_components": ["ACTL6A", "ACTR5", "ACTR8", "INO80", "INO80B", "INO80C", "INO80D", "INO80E", "MCRS1", "NFRKB", "RUVBL1", "RUVBL2", "TCF3", "CCDC85B", "ASH2L", "BAP18", "CHD8", "E2F6", "HCFC1", "HSPA4", "KANSL1", "KAT8", "KMT2A", "LAS1L", "MGAM", "PELP1", "PHF20", "PRPF31", "RBBP5", "RNF2", "SENP3", "TAF1", "TAF4", "TAF6", "TAF7", "TAF9", "TEX10", "WDR5", "RINT1", "KANSL2", "KANSL3", "OGT", "NDE1"], "pfam_ids": ["PF00498", "PF13325"], "domain_descriptions": ["Forkhead-associated (FHA) domain", "SMAD/FHA domain superfamily", "Microspherule protein", "N-terminal domain", "Microspherule protein 1"], "string_link": "https://string-db.org/network/9606/ENSG00000187778", "synonym": "ICP22BP, INO80Q, MCRS2, MSP58, P78", "ortholog_mouse": "Mcrs1", "ortholog_c_elegans": "mcrs-1", "ortholog_xenopus": "mcrs1", "ortholog_zebrafish": "mcrs1", "ortholog_drosophila": "Rcd5", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.112, "z_score": -1.4359, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 16.1627, "z_score": -2.6468, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.6724 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 9.26, "z_score": 9.26, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 9.26 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.627, "z_score": -10.627, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -10.627 } ] }, { "gene": "MDM1", "ensembl_id": "ENSG00000111554", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Mdm1 nuclear protein [Source:HGNC Symbol,Acc:HGNC:29917]", "omim_id": "613813", "functional_summary": "Upregulated during ciliogenesis (23300604). Microtubule- binding protein. Negative regulator of centriole duplication through microtubule binding. Overexpression of MDM1 suppresses centriole duplication and results in stabilization of (26337392). It might interact with members of the Hedgehog sig ling pathway, as this pathway is tightly linked with cilia (27658201)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "24121310, 27146717, 25795303", "complex_components": {}, "pfam_ids": "PF15501", "domain_descriptions": "Nuclear protein MDM1", "string_link": "https://string-db.org/network/9606/ENSG00000111554", "ortholog_mouse": "Mdm1", "ortholog_xenopus": "mdm1", "ortholog_zebrafish": "mdm1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.9286, "sd_percent_ciliated": 12.6269, "z_score": -0.4944, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0574, "sd_percent_ciliated": 0.0574, "z_score": 0.0574, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6046, "sd_percent_ciliated": -1.6046, "z_score": -1.6046, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MECOM", "ensembl_id": "ENSG00000085276", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MDS1 and EVI1 complex locus [Source:HGNC Symbol,Acc:HGNC:3498]", "omim_id": "165215", "functional_summary": "Mecom and Notch controls nephron multiciliated cell (MCC) fate, retinoic acid (RA) negatively regulates mecom in re l progenitors to promote MCC formation, and mecom attenuates MCC number by positively regulating Notch activity downstream of RA ( 24309209).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.4309209E7", "complex_components": ["CEBPB", "MECOM", "SUV39H1", "EHMT2"], "pfam_ids": ["PF13912", "PF00096", "PF21549"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "Zinc finger", "SET domain", "PRDM3", "PR/SET domain", "SET domain superfamily", "Ikaros C2H2-type zinc-finger"], "string_link": "https://string-db.org/network/9606/ENSG00000085276", "synonym": "EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3", "ortholog_mouse": "Mecom", "ortholog_c_elegans": "egl-43", "ortholog_zebrafish": "mecom", "ortholog_drosophila": "ham", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2487, "sd_percent_ciliated": -0.2487, "z_score": -0.2487, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MEGF8", "ensembl_id": "ENSG00000105429", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "multiple EGF like domains 8 [Source:HGNC Symbol,Acc:HGNC:3233]", "omim_id": "604267", "functional_summary": "Mutations in the MEGF8 gene cause Carpenter Syndrome (PMID: 23063620).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "2.306362E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000105429", "synonym": "C19ORF49, EGFL4, FLJ22365, SBP1", "ortholog_mouse": "Megf8", "ortholog_xenopus": "megf8", "ortholog_zebrafish": "megf8", "ortholog_drosophila": "Megf8", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.316, "sd_percent_ciliated": 0.316, "z_score": 0.316, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "MERTK", "ensembl_id": "ENSG00000153208", "overexpression_effects": "Not Reported", "lof_effects": "Reduced ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "MER proto-oncogene, tyrosine kinase [Source:HGNC Symbol,Acc:HGNC:7027]", "omim_id": "604705", "functional_summary": "Mertk protein progressively co-localized with outer segment material during phagocytosis by primary RPE cells, and activated Mertk accumulated during the early stages of phagocytosis by RPE-J cells (11861639).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "11861639, 11062461, 22180149", "complex_components": {}, "pfam_ids": ["PF07714", "PF00041", "PF13927", "PF00047"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin-like beta-sandwich domain", "Immunoglobulin-like fold", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Receptor Tyrosine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000153208", "synonym": "C-EYK, MER, RP38, TYRO12", "ortholog_mouse": "Mertk", "ortholog_xenopus": "mertk", "ortholog_zebrafish": "mertka", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.1135, "sd_percent_ciliated": 0.6251, "z_score": -0.3508, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2973, "sd_percent_ciliated": -0.2973, "z_score": -0.2973, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MFN2", "ensembl_id": "ENSG00000116688", "overexpression_effects": "Not Reported", "lof_effects": "Altered cilia structure", "percent_ciliated_cells_effects": "Not Reported", "description": "mitofusin 2 [Source:HGNC Symbol,Acc:HGNC:16877]", "omim_id": "608507", "functional_summary": "MFN2 and MNS1 co-localized to the sperm flagellum in freshly collected cauda epididymal sperm and MFN2 associated with the midpiece of sperm (24876927).", "localization": "flagella, Cytosol, Mitochondria", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Cardiac & muscle development", "reference": "2.4876927E7", "complex_components": {}, "pfam_ids": ["PF04799", "PF00350"], "domain_descriptions": ["Fzo/mitofusin HR2 domain", "Mitofusin family", "P-loop containing nucleoside triphosphate hydrolase", "Dynamin-type guanine nucleotide-binding (G) domain", "Dynamin", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000116688", "synonym": "CMT2A2, CPRP1, KIAA0214, MARF", "ortholog_mouse": "Mfn2", "ortholog_c_elegans": "fzo-1", "ortholog_xenopus": "mfn2", "ortholog_zebrafish": "mfn2", "ortholog_drosophila": "fzo, Marf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.0771, "sd_percent_ciliated": 3.3968, "z_score": 0.8563 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.6, "sd_percent_ciliated": 6.6, "z_score": 6.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.096, "sd_percent_ciliated": -6.096, "z_score": -6.096 } ] }, { "gene": "MIB1", "ensembl_id": "ENSG00000101752", "overexpression_effects": "Suppressed ciliogenesis", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "MIB E3 ubiquitin protein ligase 1 [Source:HGNC Symbol,Acc:HGNC:21086]", "omim_id": "608677", "functional_summary": "Interacts with and ubiquitylates AZI1 and PCM1, regulates the composition and function of centriolar satellites and suppresses primary ciliogenesis (24121310). MIB1 destabilizes Talpid3 through poly- ubiquitylation and suppresses cilium assembly (27146717). It redistributes to centrioles in response to conditions that induce centriole amplification, interacts with Plk4 and promotes its ubiquitylation, which is important for centriole homeostasis (25795303).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5002228E7", "complex_components": {}, "pfam_ids": ["PF12796", "PF00023", "PF18346", "PF06701", "PF13920", "PF00569"], "domain_descriptions": ["Zinc finger", "ZZ-type", "Zinc finger", "RING-type", "Ankyrin repeat", "Mib-herc2", "Zinc finger", "RING/FYVE/PHD-type", "Ankyrin repeat-containing domain superfamily", "Mib/herc2 domain superfamily", "Mind bomb", "SH3 repeat domain", "E3 ubiquitin-protein ligase MIB1/2", "zinc finger", "ZZ-type", "Zinc finger", "ZZ-type superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101752", "synonym": "DIP-1, KIAA1323, MIB, ZZANK2, ZZZ6", "ortholog_mouse": "Mib1", "ortholog_xenopus": "mib1", "ortholog_zebrafish": "mib1", "ortholog_drosophila": "mib1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.1272, "sd_percent_ciliated": 6.2805, "z_score": 0.9835 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 17.5, "sd_percent_ciliated": 17.5, "z_score": 17.5 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2764, "sd_percent_ciliated": -1.2764, "z_score": -1.2764 } ] }, { "gene": "MICAL1", "ensembl_id": "ENSG00000135596", "overexpression_effects": "Not Reported", "lof_effects": "Reduced ciliogenesis", "percent_ciliated_cells_effects": "Decreased", "description": "microtubule associated monooxygenase, calponin and LIM domain containing 1 [Source:HGNC Symbol,Acc:HGNC:20619]", "omim_id": "607129", "functional_summary": "MICAL1 has localized in basal body.", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CRMP1", "MICAL1", "PLXNA1"], "pfam_ids": ["PF00412", "PF00307", "PF01494", "PF12130"], "domain_descriptions": ["Calponin homology domain", "Zinc finger", "LIM-type", "FAD-binding domain", "bMERB domain", "FAD/NAD(P)-binding domain superfamily", "CH domain superfamily", "F-actin Monooxygenase Mical"], "string_link": "https://string-db.org/network/9606/ENSG00000135596", "synonym": "DKFZP434B1517, FLJ11937, FLJ21739, MICAL, NICAL", "ortholog_mouse": "Mical1", "ortholog_zebrafish": "mical1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.57, "sd_percent_ciliated": 1.57, "z_score": 1.57, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3526, "sd_percent_ciliated": -1.3526, "z_score": -1.3526, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MICAL3", "ensembl_id": "ENSG00000243156", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microtubule associated monooxygenase, calponin and LIM domain containing 3 [Source:HGNC Symbol,Acc:HGNC:24694]", "omim_id": "608882", "functional_summary": "CC2D2A provides a docking point at the photoreceptor ciliary base, allowing RAB8A-positive vesicles to bind through a series of interactions involving CC2D2A-NINL-MICAL3-RAB8A , a chain of physical interactions linking CC2D2A to RAB8A through NINL and MICAL3(26485645).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6485645E7", "complex_components": {}, "pfam_ids": ["PF00412", "PF00307", "PF12130", "PF01494"], "domain_descriptions": ["Calponin homology domain", "Zinc finger", "LIM-type", "FAD-binding domain", "bMERB domain", "FAD/NAD(P)-binding domain superfamily", "CH domain superfamily", "F-actin Monooxygenase Mical"], "string_link": "https://string-db.org/network/9606/ENSG00000243156", "synonym": "KIAA0819", "ortholog_mouse": "Mical3", "ortholog_xenopus": "mical3", "ortholog_zebrafish": "mical3a, mical3b", "ortholog_drosophila": "Mical", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.323, "sd_percent_ciliated": 0.323, "z_score": 0.323, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7027, "sd_percent_ciliated": -2.7027, "z_score": -2.7027, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MIF", "ensembl_id": "ENSG00000240972", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "macrophage migration inhibitory factor [Source:HGNC Symbol,Acc:HGNC:7097]", "omim_id": "153620", "functional_summary": "Macrophage migration inhibitory factor (MIF) is a structure protein of basal bodies, which forms a ring-like structure at proximal end of centrioles to regulate cilia assembly and elongation through defined ciliary proteins, including CP110, TTBK2, CEP290, and IFT related proteins, The phosphatidylinositol-5-phosphate 4-ki se type 2 alpha (PIP4K2a) is an upstream regulator of MIF, which interacts and phosphorylates MIF at S91 to increase the interaction of MIF with 14-3-3味, resulting in MIF nuclear translocation. Nuclear MIF functions to regulate the transcription of ciliary related genes(38052787).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion, Transcription regulation", "reference": "3.8052787E7", "complex_components": ["MIF", "NME1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000240972", "synonym": "GIF, GLIF", "ortholog_mouse": "Mif", "ortholog_c_elegans": "mif-1", "ortholog_xenopus": "mif", "ortholog_zebrafish": "mif", "screens": {} }, { "gene": "MIR182", "ensembl_id": "ENSG00000207990", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microRNA 182 [Source:HGNC Symbol,Acc:HGNC:31553]", "omim_id": "611607", "functional_summary": "Regulates the supply of molecular components to the apical membranes of photoreceptors in order to control the mainte nce of outer segments, formation of inner segments, connecting cilia, and outer segments in a developing reti culture in vitro (25002228).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "25002228, 32176259", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000207990", "synonym": "HSA-MIR-182, MIR-182, MIRN182", "ortholog_mouse": "Mir182", "screens": {} }, { "gene": "MIR183", "ensembl_id": "ENSG00000207691", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "microRNA 183 [Source:HGNC Symbol,Acc:HGNC:31554]", "omim_id": "611608", "functional_summary": "Regulates the supply of molecular components to the apical membranes of photoreceptors in order to control the mainte nce of outer segments, formation of inner segments, connecting cilia, and outer segments in a developing reti culture in vitro (25002228). Depletion results in the upregulation of Rnf217 and misregulation of cilia-related genes (32176259).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "23698347, 24982181", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000207691", "synonym": "HSA-MIR-183, MIRN183", "ortholog_mouse": "Mir183", "screens": {} }, { "gene": "MIR34B", "ensembl_id": "ENSG00000207811", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Decreased", "description": "microRNA 34b [Source:HGNC Symbol,Acc:HGNC:31636]", "omim_id": "611374", "functional_summary": "Required for the multiciliogenesis of multiciliated cells in the kidney and olfactory placode. It plays essential roles in the formation and organisation of cilia bundles. Serves as a guardian to maintain optimal levels of cmyb ( 23698347). Essential for normal brain development, motile ciliogenesis, and spermatogenesis ( 24982181).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cardiac & muscle development", "reference": "24982181, 24899310", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000207811", "synonym": "HSA-MIR-34B, MIRN34B", "ortholog_mouse": "Mir34b", "ortholog_zebrafish": "mir34b", "screens": {} }, { "gene": "MIR34C", "ensembl_id": "ENSG00000207562", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Decreased", "description": "microRNA 34c [Source:HGNC Symbol,Acc:HGNC:31637]", "omim_id": "611375", "functional_summary": "Essential for normal brain development, motile ciliogenesis, and spermatogenesis (24982181). Regulate motile ciliogenesis by repressing cp110 (24899310).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cardiac & muscle development", "reference": "20080638, 22446187", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000207562", "synonym": "HSA-MIR-34C, MIRN34C", "ortholog_mouse": "Mir34c", "ortholog_zebrafish": "mir34c", "screens": {} }, { "gene": "MKKS", "ensembl_id": "ENSG00000125863", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "MKKS centrosomal shuttling protein [Source:HGNC Symbol,Acc:HGNC:7108]", "omim_id": "604896", "functional_summary": "Also known as BBS6. Associated with Bardet-Biedl and McKusick-Kaufman syndromes. Chaperonin-like BBS protein necessary for BBSome assembly in associationg with BBS10 and BBS12, and required for the stability of BBS2 and BBS7 (20080638). Interacts with CEP290 in the ciliary transition zone to mediate ciliogenesis, mainte nce of cilia integrity and function (22446187).", "localization": "basal body, transition zone, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Muscle contraction & physiology, Transition zone, ECM & connective tissue, Transcription regulation", "reference": "21045211, 28291807, 26490104, 19515853, 21044901, 10973238 ,10973238; 21044901", "complex_components": ["BBS10", "BBS12", "BBS7", "CCT2", "CCT3", "CCT4", "CCT5", "CCT8", "MKKS", "TCP1"], "pfam_ids": "PF00118", "domain_descriptions": ["Chaperonin Cpn60/GroEL/TCP-1 family", "GroEL-like apical domain superfamily", "TCP-1-like chaperonin intermediate domain superfamily", "GroEL-like equatorial domain superfamily", "Molecular chaperone MKKS"], "string_link": "https://string-db.org/network/9606/ENSG00000125863", "synonym": "BBS6", "ciliopathy": "Bardet–Biedl Syndrome; McKusick-Kaufman Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mkks", "ortholog_xenopus": "mkks", "ortholog_zebrafish": "mkks", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.1263, "sd_percent_ciliated": 7.3639, "z_score": 0.0142 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 72.9, "sd_percent_ciliated": 72.9, "z_score": 72.9 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.7816, "sd_percent_ciliated": -7.7816, "z_score": -7.7816 } ] }, { "gene": "MKLN1", "ensembl_id": "ENSG00000128585", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "muskelin 1 [Source:HGNC Symbol;Acc:HGNC:7109]", "omim_id": "605623", "functional_summary": "RMND5A and TWA1 are present at the basal body, at the axoneme in primary cilia and motile mono-cilia, and at the centrioles in cycling cells, and other integral components of the GID complex(ARMC8 and MKLN1) are present at the axoneme in primary cilia, suggesting that the GID complex has a function at the primary cilium(35543155).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5543155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000128585", "synonym": "TWA2", "ortholog_mouse": "Mkln1", "ortholog_xenopus": "mkln1", "ortholog_zebrafish": "mkln1", "ortholog_drosophila": "muskelin", "screens": [] }, { "gene": "MKS1", "ensembl_id": "ENSG00000011143", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "MKS transition zone complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:7121]", "omim_id": "609883", "functional_summary": "Required for ciliogenesis of motile and non-motile cilia and post-migration of the centriole to the plasma membrane. Plays an essential role in modulating sig ling in the non-canonical Wnt sig ling pathway (21045211). Modulates centrosome duplication to regular cilia length and number, mutants exhibite fewer and shorter cilia (21045211, 19515853). Interacts with BBS4 to mediate trafficking of subset of membrane proteins to the primary cilium. Role in the structure of the cilia tip compartment (28291807). Regulates ciliary INPP5E content (26490104).", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, Cilia length regulation", "reference": "23300604, 17935508, 24886560, 18327255, 10.1371/journal.pone.0090599 ,18327255, 10.1371/journal.pone.0090599; 24886560; 17935508", "complex_components": ["MKS1", "TMEM67", "B9D1", "B9D2"], "pfam_ids": "PF07162", "domain_descriptions": "B9-type C2 domain", "string_link": "https://string-db.org/network/9606/ENSG00000011143", "synonym": "BBS13, FLJ20345, MKS, POC12", "ciliopathy": "Bardet–Biedl Syndrome; Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mks1", "ortholog_c_elegans": "mks-1", "ortholog_xenopus": "mks1", "ortholog_zebrafish": "mks1", "ortholog_drosophila": "Mks1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 78.9, "sd_percent_ciliated": 78.9, "z_score": 78.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6977, "sd_percent_ciliated": -1.6977, "z_score": -1.6977, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MLF1", "ensembl_id": "ENSG00000178053", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "myeloid leukemia factor 1 [Source:HGNC Symbol,Acc:HGNC:7125]", "omim_id": "601402", "functional_summary": "Component of both primary and motile cilia. Upregulated during ciliogenesis (23300604). We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). However, because of the polygenic genetic architecture and low penetrance of nonsyndromic TOF, it was impossible to construct mouse models for each candidate ciliary gene to verify its pathogenic role in TOF. We therefore selected six previously unidentified genes (namely AGBL2, MLF1, PKHD1L1, PPEF2, SPTBN5, and TEKT3) with recurrent mutations for mouse models construction and phenotype validation, both to illustrate the reliability of our screening strategy and to provide in vivo evidence supporting the contribution of ciliary gene variants to TOF pathogenesis. (41071877)", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "30622330, 26437028, 41071877", "complex_components": {}, "pfam_ids": "PF10248", "domain_descriptions": "Myeloid leukemia factor", "string_link": "https://string-db.org/network/9606/ENSG00000178053", "ciliopathy": "Tetralogy of Fallot (TOF)", "ortholog_mouse": "Mlf1", "ortholog_c_elegans": "Y17G7B.17", "ortholog_xenopus": "mlf1", "ortholog_zebrafish": "mlf1", "ortholog_drosophila": "Mlf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.5447, "sd_percent_ciliated": 3.6661, "z_score": -0.5409 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.37, "sd_percent_ciliated": 4.37, "z_score": 4.37 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5956, "sd_percent_ciliated": -3.5956, "z_score": -3.5956 } ] }, { "gene": "MLH1", "ensembl_id": "ENSG00000076242", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mutL homolog 1 [Source:HGNC Symbol,Acc:HGNC:7127]", "omim_id": "120436", "functional_summary": "Mlh1 co-localized with α-tubulin sig l around separating micronuclei during the crescent stage ( 29095884)", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Reproduction & sperm", "reference": "2.9095884E7", "complex_components": ["BLM", "FANCA", "FANCC", "FANCE", "FANCF", "FANCG", "FANCL", "MLH1", "RMI1", "RPA1", "RPA2", "RPA3", "TOP3A", "PCNA", "PMS1", "MSH2", "PMS2", "MSH6", "EXO1", "ATM", "BRCA1", "MRE11", "NBN", "RAD50", "RFC1", "RFC2", "RFC4", "BACH1", "BARD1", "TOPBP1"], "pfam_ids": ["PF01119", "PF16413", "PF13589"], "domain_descriptions": ["DNA mismatch repair protein MutL/Mlh/PMS", "DNA mismatch repair protein", "S5 domain 2-like", "Small ribosomal subunit protein uS5 domain 2-type fold", "subgroup", "DNA mismatch repair", "conserved site", "Ribosomal protein uS5 domain 2-type superfamily", "DNA mismatch repair protein Mlh1", "C-terminal", "Histidine kinase/HSP90-like ATPase superfamily", "DNA mismatch repair protein MutL/Mlh/Pms-like"], "string_link": "https://string-db.org/network/9606/ENSG00000076242", "synonym": "COCA2, FCC2, HNPCC, HNPCC2, MLH-1", "ortholog_mouse": "Mlh1", "ortholog_c_elegans": "mlh-1", "ortholog_xenopus": "mlh1", "ortholog_zebrafish": "mlh1", "ortholog_drosophila": "Mlh1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.4762, "sd_percent_ciliated": 0.4177, "z_score": -0.4281, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.501, "sd_percent_ciliated": 0.501, "z_score": 0.501, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1262, "sd_percent_ciliated": -0.1262, "z_score": -0.1262, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MME", "ensembl_id": "ENSG00000196549", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "membrane metalloendopeptidase [Source:HGNC Symbol,Acc:HGNC:7154]", "omim_id": "120520", "functional_summary": "MME has localized in ciliary tip.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Neurogenesis & migration, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273, 27583304", "complex_components": {}, "pfam_ids": ["PF01431", "PF05649"], "domain_descriptions": ["Peptidase M13", "Peptidase M13", "N-terminal domain", "Peptidase M13", "C-terminal domain", "Metallopeptidase", "catalytic domain superfamily", "Peptidase M13", "domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000196549", "synonym": "CALLA, CD10, NEP", "ortholog_mouse": "Mme", "ortholog_c_elegans": "nep-2", "ortholog_xenopus": "mme", "ortholog_drosophila": "Nep1, Nep2, Nep4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.4068, "sd_percent_ciliated": 1.1794, "z_score": 1.2597 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.1188, "sd_percent_ciliated": -1.1188, "z_score": -1.1188 } ] }, { "gene": "MMP1", "ensembl_id": "ENSG00000196611", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "matrix metallopeptidase 1 [Source:HGNC Symbol,Acc:HGNC:7155]", "omim_id": "120353", "functional_summary": "MMP1 is significantly related to inflammatory effects and cilia function in human bronchial epithelial cells cultured at the air-liquid interface (ALI) ( 36442527).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.6442527E7", "complex_components": {}, "pfam_ids": ["PF01471", "PF00413", "PF00045"], "domain_descriptions": ["Hemopexin-like domain", "Peptidase M10", "metallopeptidase", "Peptidoglycan binding-like", "Peptidase", "metallopeptidase", "Hemopexin", "conserved site", "Hemopexin-like repeats", "Peptidase M10A", "cysteine switch", "zinc binding site", "Peptidase M10A", "Metallopeptidase", "catalytic domain superfamily", "Peptidase M10A", "catalytic domain", "PGBD-like superfamily", "Hemopexin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000196611", "synonym": "CLG", "ortholog_mouse": "Mmp1a, Mmp1b", "ortholog_c_elegans": "zmp-5", "ortholog_xenopus": "mmp1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8284, "z_score": 0.4188, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 57.9634, "z_score": 2.4176, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.3268 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.55, "z_score": 1.55, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.55 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.172, "z_score": 0.172, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.172 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.8414, "z_score": -3.8414, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.8414 } ] }, { "gene": "MMP13", "ensembl_id": "ENSG00000137745", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "matrix metallopeptidase 13 [Source:HGNC Symbol,Acc:HGNC:7159]", "omim_id": "600108", "functional_summary": "CITED2 is a critical mediator in the sig ling generated by strain and transduced by primary cilia, extracellular ATP-induced purinergic receptors and calcium sig ling, that leads to transactivation of CITED2. Strain-induced CITED2 transactivation requires HIF1α and Sp1 and intact SSRE and leads to the downregulation of MMP (Mmp1, and of Mmp13)expression( 26687824).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "2.6687824E7", "complex_components": {}, "pfam_ids": ["PF01471", "PF00045", "PF00413"], "domain_descriptions": ["Hemopexin-like domain", "Peptidase M10", "metallopeptidase", "Peptidoglycan binding-like", "Peptidase", "metallopeptidase", "Hemopexin", "conserved site", "Hemopexin-like repeats", "Peptidase M10A", "cysteine switch", "zinc binding site", "Peptidase M10A", "Metallopeptidase", "catalytic domain superfamily", "Peptidase M10A", "catalytic domain", "PGBD-like superfamily", "Hemopexin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137745", "synonym": "CLG3", "ortholog_mouse": "Mmp13", "ortholog_c_elegans": "zmp-5, zmp-6", "ortholog_xenopus": "mmp13l", "ortholog_zebrafish": "mmp13a.1, mmp13b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.8541, "sd_percent_ciliated": 1.8777, "z_score": 1.6774 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.04, "sd_percent_ciliated": 1.04, "z_score": 1.04 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1248, "sd_percent_ciliated": -0.1248, "z_score": -0.1248 } ] }, { "gene": "MMP14", "ensembl_id": "ENSG00000157227", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Not Reported", "description": "matrix metallopeptidase 14 [Source:HGNC Symbol,Acc:HGNC:7160]", "omim_id": "600754", "functional_summary": "MT1-MMP(MMP14) is required for ciliogenesis and EC maturation through suppression of Notch sig ling during early brain development. MT1-MMP is critical for early brain development and loss of MT1-MMP activity gives rise to hydrocephalus ( 32229724).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Cell migration & adhesion, Cardiac & muscle development", "reference": "3.2229724E7", "complex_components": ["ITGAV", "ITGB8", "MMP14", "TGFB1", "CLDN1", "ADAM12", "ITGB3", "BCAR1", "PTK2", "TIMP2", "MMP2", "FLT1", "KDR", "SRC"], "pfam_ids": ["PF00413", "PF01471", "PF00045", "PF11857"], "domain_descriptions": ["Hemopexin-like domain", "Peptidase M10", "metallopeptidase", "Peptidoglycan binding-like", "Peptidase", "metallopeptidase", "Hemopexin", "conserved site", "Hemopexin-like repeats", "Peptidase M10A", "cysteine switch", "zinc binding site", "Peptidase M10A", "Metallopeptidase", "catalytic domain superfamily", "Peptidase M10A", "catalytic domain", "PGBD-like superfamily", "PGBD superfamily", "Hemopexin-like domain superfamily", "Peptidase M10A", "matrix metallopeptidase", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000157227", "synonym": "MT1-MMP", "ortholog_mouse": "Mmp14", "ortholog_c_elegans": "zmp-5", "ortholog_xenopus": "mmp14", "ortholog_zebrafish": "mmp14a, mmp14b", "ortholog_drosophila": "Mmp2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.4176, "sd_percent_ciliated": 0.9246, "z_score": 0.2918, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.562, "sd_percent_ciliated": 0.562, "z_score": 0.562, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7014, "sd_percent_ciliated": -0.7014, "z_score": -0.7014, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MMP21", "ensembl_id": "ENSG00000154485", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "matrix metallopeptidase 21 [Source:HGNC Symbol,Acc:HGNC:14357]", "omim_id": "608416", "functional_summary": "Known to cause heterotaxy and primary ciliary dyskinesia (30622330). Specialised role in the generation of left-right asymmetry (26437028).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "30148830, 22396656, 26437028, 26429889", "complex_components": {}, "pfam_ids": ["PF00045", "PF01471", "PF00413"], "domain_descriptions": ["Hemopexin-like repeats", "Hemopexin-like domain superfamily", "Peptidase M10", "metallopeptidase", "Peptidoglycan binding-like", "Peptidase M10A", "Metallopeptidase", "catalytic domain superfamily", "PGBD-like superfamily", "Hemopexin-like domain", "Peptidase", "metallopeptidase", "Peptidase M10A", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000154485", "ortholog_mouse": "Mmp21", "ortholog_c_elegans": "zmp-2", "ortholog_xenopus": "mmp21", "ortholog_zebrafish": "mmp21", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.9821, "sd_percent_ciliated": 4.9245, "z_score": -0.8514 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.537, "sd_percent_ciliated": 0.537, "z_score": 0.537 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.4464, "sd_percent_ciliated": -1.4464, "z_score": -1.4464 } ] }, { "gene": "MMP7", "ensembl_id": "ENSG00000137673", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "matrix metallopeptidase 7 [Source:HGNC Symbol,Acc:HGNC:7174]", "omim_id": "178990", "functional_summary": "MMP7 regulated ciliated cell formation, the recovery of the airway epithelium in wild-type and Mmp7-null mice in vivo after phthalene injury, which revealed augmented ciliated cell formation in the absence of MMP7 ( 23258229).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3258229E7", "complex_components": {}, "pfam_ids": ["PF00413", "PF01471"], "domain_descriptions": ["Peptidase M10", "metallopeptidase", "Peptidoglycan binding-like", "Peptidase", "metallopeptidase", "Peptidase M10A", "cysteine switch", "zinc binding site", "Peptidase M10A", "Metallopeptidase", "catalytic domain superfamily", "Peptidase M10A", "catalytic domain", "PGBD-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137673", "synonym": "MPSL1, PUMP-1", "ortholog_mouse": "Mmp7", "ortholog_c_elegans": "zmp-6", "ortholog_xenopus": "LOC101731804, LOC116408605, LOC116408897, LOC116408899, mmp7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.8455, "sd_percent_ciliated": 12.0809, "z_score": 0.1013, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.379, "sd_percent_ciliated": 0.379, "z_score": 0.379, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4304, "sd_percent_ciliated": 0.4304, "z_score": 0.4304, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MNS1", "ensembl_id": "ENSG00000138587", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "meiosis specific nuclear structural 1 [Source:HGNC Symbol,Acc:HGNC:29636]", "omim_id": "610766", "functional_summary": "Role in outer dynein arm (ODA) docking in the distal axonemes, stabilising structures in the motile cilium that helps the attachment of motor proteins to the to ensure a correct beating of the cilia, interacts with the ODA docking complex component CCDC114 and D H5. Deficiency cases laterality defects (30148830). Essential for the assembly of sperm flagella (22396656).", "localization": "basal body, cilia ,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "25243405, 30148830", "complex_components": {}, "pfam_ids": "PF13868", "domain_descriptions": ["Meiosis-specific nuclear structural protein 1", "Trichohyalin-plectin-homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138587", "synonym": "FLJ11222, SPATA40", "ortholog_mouse": "Mns1", "ortholog_xenopus": "mns1", "ortholog_zebrafish": "mns1", "ortholog_drosophila": "CG7352", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8875, "z_score": 0.4373, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 49.1491, "z_score": 1.3497, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.3083 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.54, "z_score": 1.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.54 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9412, "z_score": -0.9412, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.9412 } ] }, { "gene": "MOK", "ensembl_id": "ENSG00000080823", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "MOK protein kinase [Source:HGNC Symbol,Acc:HGNC:9833]", "omim_id": "605762", "functional_summary": "Negative regulattion of cilium length through the inhibition of the mTORC1 pathway and suppressing the synthesis of ciliary tubulin. It is part of, or transported by the IFT machinery (25243405).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "28742876 ,31339880", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Mitogen-activated protein kinase", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000080823", "synonym": "RAGE, RAGE1, STK30", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mok", "ortholog_xenopus": "mok", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8321, "sd_percent_ciliated": -0.8321, "z_score": -0.8321, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MORN5", "ensembl_id": "ENSG00000185681", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MORN repeat containing 5 [Source:HGNC Symbol,Acc:HGNC:17841]", "omim_id": "619837", "functional_summary": "Associated with cytoskeletal structures in the sperm flagellum. Function in sig ling during sperm development (28742876).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "30375385 ,29257953 *", "complex_components": {}, "pfam_ids": "PF02493", "domain_descriptions": ["MORN repeat", "MORN repeat-containing protein 5"], "string_link": "https://string-db.org/network/9606/ENSG00000185681", "synonym": "C9ORF113, C9ORF18, FLJ46909", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Morn5", "ortholog_xenopus": "morn5", "ortholog_zebrafish": "morn5", "ortholog_drosophila": "CG3222, CG3306", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.63, "sd_percent_ciliated": 0.63, "z_score": 0.63, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2737, "sd_percent_ciliated": 0.2737, "z_score": 0.2737, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MOSMO", "ensembl_id": "ENSG00000185716", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "modulator of smoothened [Source:HGNC Symbol;Acc:HGNC:27087]", "functional_summary": "At the cellular level, Mosmoa localizes at the plasma membrane, cytoplasmic vesicles and primary cilium in both zebrafish and chick embryos. CRISPR/Cas9 mediated inactivation of both mosmoa and mosmob in zebrafish causes frontonasal hypoplasia and craniofacial skeleton defects, which become evident in the adult fish. We thus suggest that MOSMO is a candidate to explain uncharacterized forms of human congenital craniofacial malformations, such as those present in the 16p12.1 chromosomal deletion syndrome encompassing the MOSMO locus (PMID: 34746155).", "localization": "cilia", "reference": "3.4746155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000185716", "synonym": "ATTHOG, BC030336, C16ORF52", "ciliopathy": "Craniofacial skeleton defects in Zebrafish", "ortholog_mouse": "Mosmo", "ortholog_xenopus": "mosmo", "ortholog_zebrafish": "mosmoa, mosmob", "ortholog_drosophila": "CG14182", "screens": [] }, { "gene": "MPC1", "ensembl_id": "ENSG00000060762", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitochondrial pyruvate carrier 1 [Source:HGNC Symbol,Acc:HGNC:21606]", "omim_id": "614738", "functional_summary": "MPC1 has localized in flagella.", "localization": "flagella, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["MPC1", "MPC2"], "pfam_ids": "PF03650", "domain_descriptions": "Mitochondrial pyruvate carrier", "string_link": "https://string-db.org/network/9606/ENSG00000060762", "synonym": "BRP44L, CGI-129, DJ68L15.3, SLC54A1", "ortholog_mouse": "Mpc1", "ortholog_c_elegans": "mpc-1", "ortholog_xenopus": "mpc1", "ortholog_zebrafish": "mpc1", "ortholog_drosophila": "Mpc1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.48, "sd_percent_ciliated": 2.48, "z_score": 2.48, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "MPDZ", "ensembl_id": "ENSG00000107186", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "multiple PDZ domain crumbs cell polarity complex component [Source:HGNC Symbol,Acc:HGNC:7208]", "omim_id": "603785", "functional_summary": "MPDZ has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AMOT", "AMOTL1", "AMOTL2", "ARHGAP17", "MPDZ", "MPP7", "PALS1", "PATJ", "MTNR1A"], "pfam_ids": ["PF09045", "PF16667", "PF00595"], "domain_descriptions": ["PDZ domain", "L27 domain", "L27-2", "Multiple PDZ domain protein", "unstructured region", "PDZ superfamily", "L27 domain superfamily", "PDZ domain-containing scaffold protein"], "string_link": "https://string-db.org/network/9606/ENSG00000107186", "synonym": "MUPP1", "ortholog_mouse": "Mpdz", "ortholog_c_elegans": "mpz-1", "ortholog_xenopus": "mpdz", "ortholog_drosophila": "Patj", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.7641, "sd_percent_ciliated": 3.517, "z_score": -0.3932, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4724, "sd_percent_ciliated": -1.4724, "z_score": -1.4724, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MPHOSPH9", "ensembl_id": "ENSG00000051825", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "M-phase phosphoprotein 9 [Source:HGNC Symbol,Acc:HGNC:7215]", "omim_id": "605501", "functional_summary": "Forms a ring-like structure and regulates ciliogenesis by modulating CP110-CEP97 complex recruitment and localization at the mother centriole, by directly binding CEP97, which blocks cilia assembly in cycling cells able to form cilia. degradation of MPP9 facilitates the removal of the CP110-CEP97 complex from basal bodies and promotes cilia formation (30375385).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly", "reference": "29937275, 21145495, 32213867, 29180513, 25906314", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000051825", "synonym": "MPP9", "ortholog_mouse": "Mphosph9", "ortholog_xenopus": "mphosph9", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.0051, "sd_percent_ciliated": 10.5935, "z_score": -0.6063, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.28, "sd_percent_ciliated": 1.28, "z_score": 1.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.435, "sd_percent_ciliated": -6.435, "z_score": -6.435, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MRE11", "ensembl_id": "ENSG00000020922", "overexpression_effects": "Not Reported", "lof_effects": "Altered", "percent_ciliated_cells_effects": "Not Reported", "description": "MRE11 homolog, double strand break repair nuclease [Source:HGNC Symbol,Acc:HGNC:7230]", "omim_id": "600814", "functional_summary": "3 NPHP-RC genes, MRE11, ZNF423, and CEP164, which together suggest involvement of a D damage response (DDR) sig ling pathway in NPHP-RC pathogenesis ( 22863007).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "22863007, 10612394, 11371508 ,10612394, 11371508", "complex_components": ["MRE11", "RAD50", "NBN", "ATM", "BLM", "BRCA1", "MLH1", "MSH2", "MSH6", "RFC1", "RFC2", "RFC4", "TERF2", "TRRAP", "CAPRIN1", "CLP1", "CPSF3", "CPSF6", "CPSF7", "DHX16", "ERCC3", "GTF2H4", "NUDT21", "PCF11", "PTBP1", "SFPQ", "TJP1", "U2AF1", "U2AF2", "LIG4", "XRCC4", "XRCC5", "XRCC6", "PARP1", "TERF2IP", "ACD", "POT1", "TERF1", "TINF2", "FANCD2", "MDC1", "BACH1", "BARD1", "RBBP8", "TOPBP1", "PAXIP1", "TP53BP1", "MCM8", "MCM9", "MRNIP"], "pfam_ids": ["PF04152", "PF00149"], "domain_descriptions": ["DNA double-strand break repair protein Mre11", "Calcineurin-like phosphoesterase domain", "ApaH type", "Mre11", "DNA-binding", "Metallo-dependent phosphatase-like", "Mre11", "capping domain", "DNA double-strand break repair protein Mre11", "N-terminal metallophosphatase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000020922", "synonym": "ATLD, MRE11A", "ciliopathy": "Ataxia-telangiectasia-like Disorder", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Mre11a", "ortholog_c_elegans": "mre-11", "ortholog_xenopus": "mre11", "ortholog_zebrafish": "mre11a", "ortholog_drosophila": "mre11", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.23, "sd_percent_ciliated": 1.23, "z_score": 1.23, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "MRGPRF", "ensembl_id": "ENSG00000172935", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MAS related GPR family member F [Source:HGNC Symbol,Acc:HGNC:24828]", "functional_summary": "MRGPRF has localized in,transition zone.", "localization": "cilia,transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "GPCR", "rhodopsin-like", "7TM", "Mas-related G protein-coupled receptor F", "Mas-related G protein-coupled receptor family"], "string_link": "https://string-db.org/network/9606/ENSG00000172935", "synonym": "GPR140, GPR168, MGC21621, MRGF", "ortholog_mouse": "Mrgprf", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.9017, "sd_percent_ciliated": 10.5462, "z_score": 0.4716, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2557, "sd_percent_ciliated": -1.2557, "z_score": -1.2557, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MROH2B", "ensembl_id": "ENSG00000171495", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "maestro heat like repeat family member 2B [Source:HGNC Symbol,Acc:HGNC:26857]", "omim_id": "620930", "functional_summary": "MROH2B has localized in flagella.", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF21047", "PF23227", "PF23221", "PF23210"], "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "Maestro heat-like repeat-containing protein", "Maestro-like", "HEAT-repeats domain", "Maestro/Maestro-like", "HEAT-repeats domain", "MROH2B-like", "HEAT-repeats domain", "MROH2B-like", "N-terminal HEAT-repeats domain"], "string_link": "https://string-db.org/network/9606/ENSG00000171495", "synonym": "DKFZP781F0822, FLJ40243, HEATR7B2, SPIF", "ortholog_mouse": "Mroh2b", "ortholog_c_elegans": "hpo-27", "ortholog_drosophila": "c11.1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.402, "sd_percent_ciliated": 0.402, "z_score": 0.402, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "MRPS10", "ensembl_id": "ENSG00000048544", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "mitochondrial ribosomal protein S10 [Source:HGNC Symbol;Acc:HGNC:14502]", "omim_id": "611976", "functional_summary": "Loss of MRPS10 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000048544", "synonym": "FLJ10567; US10M", "ortholog_mouse": "Mrps10", "ortholog_c_elegans": "mrps-10", "ortholog_xenopus": "mrps10", "ortholog_zebrafish": "mrps10", "ortholog_drosophila": "mRpS10", "screens": [] }, { "gene": "MRPS35", "ensembl_id": "ENSG00000061794", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitochondrial ribosomal protein S35 [Source:HGNC Symbol,Acc:HGNC:16635]", "omim_id": "611995", "functional_summary": "MRPS35 has localized in flagella.", "localization": "flagella, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["DAP3", "KGD4", "MRPS10", "MRPS11", "MRPS12", "MRPS14", "MRPS15", "MRPS16", "MRPS17", "MRPS18A", "MRPS18B", "MRPS18C", "MRPS2", "MRPS21", "MRPS22", "MRPS23", "MRPS24", "MRPS25", "MRPS26", "MRPS27", "MRPS28", "MRPS30", "MRPS31", "MRPS33", "MRPS34", "MRPS35", "MRPS5", "MRPS6", "MRPS7", "MRPS9", "MRPL42", "LACTB", "MRPL1", "MRPL10", "MRPL11", "MRPL12", "MRPL13", "MRPL14", "MRPL15", "MRPL16", "MRPL17", "MRPL18", "MRPL19", "MRPL2", "MRPL20", "MRPL21", "MRPL22", "MRPL23", "MRPL24", "MRPL27", "MRPL28", "MRPL3", "MRPL30", "MRPL32", "MRPL33", "MRPL34", "MRPL35", "MRPL36", "MRPL37", "MRPL38", "MRPL39", "MRPL4", "MRPL40", "MRPL41", "MRPL43", "MRPL44", "MRPL45", "MRPL46", "MRPL47", "MRPL48", "MRPL49", "MRPL50", "MRPL51", "MRPL52", "MRPL53", "MRPL54", "MRPL55", "MRPL9"], "pfam_ids": "PF10213", "domain_descriptions": ["Small ribosomal subunit protein mS35", "mitochondrial", "conserved domain", "Small ribosomal subunit protein mS35", "mitochondrial"], "string_link": "https://string-db.org/network/9606/ENSG00000061794", "synonym": "MDS023, MRPS28, MS35", "ortholog_mouse": "Mrps28, Mrps35", "ortholog_c_elegans": "mrps-28, mrps-35", "ortholog_xenopus": "mrps28, mrps35", "ortholog_zebrafish": "mrps28, mrps35", "ortholog_drosophila": "mRpS28, mRpS35", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.1868, "z_score": 0.5307, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 48.1861, "z_score": 1.233, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.5477 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.4, "z_score": 2.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4754, "z_score": -2.4754, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.4754 } ] }, { "gene": "MSGN1", "ensembl_id": "ENSG00000151379", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mesogenin 1 [Source:HGNC Symbol,Acc:HGNC:14907]", "omim_id": "612209", "functional_summary": "MSGN1 has localized in flagella.", "localization": "flagella, Nucleus", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00010", "domain_descriptions": ["Myc-type", "basic helix-loop-helix (bHLH) domain", "Helix-loop-helix DNA-binding domain superfamily", "Mesogenin/MesP"], "string_link": "https://string-db.org/network/9606/ENSG00000151379", "synonym": "PMESOGENIN1", "ortholog_mouse": "Msgn1", "ortholog_xenopus": "msgn1", "ortholog_zebrafish": "msgn1", "ortholog_drosophila": "sage", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.316, "sd_percent_ciliated": 0.316, "z_score": 0.316, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0669, "sd_percent_ciliated": -2.0669, "z_score": -2.0669, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MSH4", "ensembl_id": "ENSG00000057468", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mutS homolog 4 [Source:HGNC Symbol,Acc:HGNC:7327]", "omim_id": "602105", "functional_summary": "MSH4 has localized in basal body,flagella.", "localization": "basal body,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": ["GPS2", "MSH4", "MSH5"], "pfam_ids": ["PF05190", "PF00488", "PF05188", "PF05192"], "domain_descriptions": ["DNA mismatch repair protein MutS", "C-terminal", "DNA mismatch repair protein MutS", "core", "DNA mismatch repair protein MutS", "connector domain", "DNA mismatch repair protein MutS", "clamp", "P-loop containing nucleoside triphosphate hydrolase", "DNA mismatch repair protein MutS", "core domain superfamily", "MutS", "connector domain superfamily", "DNA mismatch repair MutS"], "string_link": "https://string-db.org/network/9606/ENSG00000057468", "ortholog_mouse": "Msh4", "ortholog_c_elegans": "him-14", "ortholog_xenopus": "msh4", "ortholog_zebrafish": "msh4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.8348, "sd_percent_ciliated": 8.4112, "z_score": -0.0211, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.47, "sd_percent_ciliated": 3.47, "z_score": 3.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7216, "sd_percent_ciliated": -0.7216, "z_score": -0.7216, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MT-CO1", "ensembl_id": "ENSG00000198804", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol,Acc:HGNC:7419]", "omim_id": "516030", "functional_summary": "MT-CO1 has localized in flagella.", "localization": "flagella, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": ["COX4I1", "COX5A", "COX5B", "COX6A2", "COX6B1", "COX6C", "COX7A1", "COX7B", "COX7C", "COX8B", "MT-CO1", "MT-CO2", "MT-CO3", "Cox4i1", "Cox5a", "Cox5b", "Cox6a1", "Cox6b1", "Cox6c", "Cox7a2", "Cox7b", "Cox7c", "Cox8a", "mt-Co1", "mt-Co3", "Mtco2", "COX6A1", "COX7A2", "COX8A", "Cox6c1", "Mt-co1", "Mt-co2", "Mt-co3", "CYC1", "MT-CYB", "MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ", "COA3", "SURF1", "SMIM20", "HIGD1A", "PET100", "PET117", "PNKD", "CMC1", "COA1", "COX14", "COX15", "COX16", "TIMM21"], "pfam_ids": "PF00115", "domain_descriptions": ["Cytochrome c oxidase subunit I", "Cytochrome c oxidase", "subunit I", "copper-binding site", "Cytochrome c oxidase-like", "subunit I domain", "Cytochrome c oxidase subunit I domain", "Cytochrome c oxidase-like", "subunit I superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000198804", "synonym": "COI, COX1, MTCO1", "ortholog_mouse": "mt-Co1", "ortholog_zebrafish": "mt-co1", "ortholog_drosophila": "mt:CoI", "screens": {} }, { "gene": "MT-CO2", "ensembl_id": "ENSG00000198712", "overexpression_effects": "Not Reported", "lof_effects": "Distorted cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "mitochondrially encoded cytochrome c oxidase II [Source:HGNC Symbol,Acc:HGNC:7421]", "omim_id": "516040", "functional_summary": "The integration of and crosstalk between primary cilia and the COX2-PGE2-EP4 sig ling pathway under mechanical stimulation ( 33275302.", "localization": "Ciliary associated gene, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3275302E7", "complex_components": ["COX4I1", "COX5A", "COX5B", "COX6A2", "COX6B1", "COX6C", "COX7A1", "COX7B", "COX7C", "COX8B", "MT-CO1", "MT-CO2", "MT-CO3", "Cox4i1", "Cox5a", "Cox5b", "Cox6a1", "Cox6b1", "Cox6c", "Cox7a2", "Cox7b", "Cox7c", "Cox8a", "mt-Co1", "mt-Co3", "Mtco2", "COX6A1", "COX7A2", "COX8A", "Cox6c1", "Mt-co1", "Mt-co2", "Mt-co3", "CYC1", "MT-CYB", "MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ", "ECSIT", "GAPDH", "NDUFAF1", "TRAF6", "HIGD1A", "PET100", "PET117", "PNKD", "CMC1", "COA1", "COA3", "COX14", "COX15", "COX16", "SURF1", "TIMM21"], "pfam_ids": ["PF02790", "PF00116"], "domain_descriptions": ["Copper centre Cu(A)", "Cytochrome c oxidase subunit II-like C-terminal", "Cupredoxin", "Cytochrome C oxidase subunit II", "transmembrane domain", "Cytochrome c oxidase", "subunit II", "Cytochrome c oxidase subunit 2", "C-terminal", "Cytochrome C oxidase subunit II", "transmembrane domain superfamily", "Cytochrome c/quinol oxidase subunit II"], "string_link": "https://string-db.org/network/9606/ENSG00000198712", "synonym": "CO2, COX2, MTCO2", "ortholog_mouse": "mt-Co2", "ortholog_zebrafish": "mt-co2", "ortholog_drosophila": "mt:CoII", "screens": {} }, { "gene": "MTHFR", "ensembl_id": "ENSG00000177000", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "methylenetetrahydrofolate reductase [Source:HGNC Symbol,Acc:HGNC:7436]", "omim_id": "607093", "functional_summary": "MTHFR has localized in basal body, transition zone.", "localization": "basal body, transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF21895", "PF02219"], "domain_descriptions": ["Methylenetetrahydrofolate reductase-like", "Eukaryotic-type methylenetetrahydrofolate reductase", "FAD-linked oxidoreductase-like", "MTHFR", "SAM-binding regulatory domain"], "string_link": "https://string-db.org/network/9606/ENSG00000177000", "ortholog_mouse": "Mthfr", "ortholog_c_elegans": "mthf-1", "ortholog_xenopus": "mthfr", "ortholog_zebrafish": "mthfr", "ortholog_drosophila": "CG7560", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.7051, "sd_percent_ciliated": 5.2398, "z_score": -0.2792 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.4, "sd_percent_ciliated": 3.4, "z_score": 3.4 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.6788, "sd_percent_ciliated": -8.6788, "z_score": -8.6788 } ] }, { "gene": "MTMR11", "ensembl_id": "ENSG00000014914", "overexpression_effects": "Not Reported", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Not Reported", "description": "myotubularin related protein 11 [Source:HGNC Symbol,Acc:HGNC:24307]", "functional_summary": "Mtmr11 and Ankrd45 are similarly uncharacterized and were found specifically at basal bodies(29180514).", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "2.9180514E7", "complex_components": {}, "pfam_ids": ["PF06602", "PF12578"], "domain_descriptions": ["Myotubularin-like", "phosphatase domain", "Myotubularin-related 12-like C-terminal domain", "Protein-tyrosine phosphatase-like", "Myotubularin"], "string_link": "https://string-db.org/network/9606/ENSG00000014914", "synonym": "CRA", "ortholog_mouse": "Mtmr11", "ortholog_c_elegans": "mtm-10", "ortholog_xenopus": "mtmr11", "ortholog_zebrafish": "mtmr11", "ortholog_drosophila": "CG14411", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.57, "sd_percent_ciliated": 3.57, "z_score": 3.57, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0602, "sd_percent_ciliated": -2.0602, "z_score": -2.0602, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MTOR", "ensembl_id": "ENSG00000198793", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "mechanistic target of rapamycin kinase [Source:HGNC Symbol,Acc:HGNC:3942]", "omim_id": "601231", "functional_summary": "Mutations in MTOR Disrupt Neuro l Ciliogenesis and decreases cilia length, via induction of aberrant accumulation of OFD1 at centriolar satellites ( 29937275). Downregulated by cilium bending, which in turn regulates cell size ( 21145495). Inhibition of mTOR induces primary cilia formation, mTOR inhibition leads to the activation of autophagy, which suppresses the proteasome and prevents the degradation of ciliary proteins resulting in ciliogenesis ( 32213867, 29180513, 25906314). Involved in the elongation and mainte nce of cilium size by promoting the biosynthesis of proteins and lipids required for cilium elongation and mainte nce ( 29180513).", "localization": "Ciliary associated gene, Cytosol, Endosome, Nucleus, Ribosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Cilia length regulation", "reference": "2.404859E7", "complex_components": ["MLST8", "MTOR", "RICTOR", "RPTOR", "MAPKAP1", "SLC38A9", "TM4SF5", "AKT1S1", "PRR5", "PRR5L", "HTR6"], "pfam_ids": ["PF23593", "PF02260", "PF11865", "PF02259", "PF08771", "PF00454"], "domain_descriptions": ["Phosphatidylinositol 3-/4-kinase", "catalytic domain", "PIK-related kinase", "FAT", "FATC domain", "FKBP12-rapamycin binding domain", "Protein kinase-like domain superfamily", "Armadillo-like helical", "Tetratricopeptide-like helical domain superfamily", "PIK-related kinase", "Armadillo-type fold", "Phosphatidylinositol 3/4-kinase", "conserved site", "Serine/threonine-protein kinase mTOR domain", "Serine/threonine-protein kinase TOR", "catalytic domain", "FKBP12-rapamycin binding domain superfamily", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily", "DNA Damage Response and Repair Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000198793", "synonym": "FLJ44809, FRAP, FRAP1, FRAP2, RAFT1, RAPT1", "ortholog_mouse": "Mtor", "ortholog_c_elegans": "let-363", "ortholog_xenopus": "mtor", "ortholog_zebrafish": "mtor", "ortholog_drosophila": "mTor", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.92, "sd_percent_ciliated": 5.92, "z_score": 5.92, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.4348, "sd_percent_ciliated": -5.4348, "z_score": -5.4348, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MTR", "ensembl_id": "ENSG00000116984", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "5-methyltetrahydrofolate-homocysteine methyltransferase [Source:HGNC Symbol,Acc:HGNC:7468]", "omim_id": "156570", "functional_summary": "MTR has localized in transition zone, primary cilia.", "localization": "transition zone, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00809", "PF02310", "PF02607", "PF02574", "PF02965"], "domain_descriptions": ["Pterin-binding domain", "Homocysteine-binding domain", "Cobalamin (vitamin B12)-binding module", "cap domain", "Vitamin B12-dependent methionine synthase", "activation domain", "Cobalamin (vitamin B12)-binding domain", "Dihydropteroate synthase-like superfamily", "Cobalamin-dependent methionine synthase", "Methionine synthase", "B12-binding domain", "Homocysteine-binding domain superfamily", "Methionine synthase domain", "Cobalamin-binding domain superfamily", "Vitamin B12-dependent methionine synthase", "activation domain superfamily", "Methionine Synthase/Corrinoid"], "string_link": "https://string-db.org/network/9606/ENSG00000116984", "synonym": "CBLG", "ortholog_mouse": "Mtr", "ortholog_c_elegans": "metr-1", "ortholog_xenopus": "mtr", "ortholog_zebrafish": "mtr", "ortholog_drosophila": "Bhmt, CG10621", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.0051, "sd_percent_ciliated": 8.2492, "z_score": 0.7264 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.3, "sd_percent_ciliated": 11.3, "z_score": 11.3 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8661, "sd_percent_ciliated": -1.8661, "z_score": -1.8661 } ] }, { "gene": "MTSS1", "ensembl_id": "ENSG00000170873", "overexpression_effects": "Not Reported", "lof_effects": "Longer axonemes", "percent_ciliated_cells_effects": "Not Reported", "description": "MTSS I-BAR domain containing 1 [Source:HGNC Symbol,Acc:HGNC:20443]", "omim_id": "608486", "functional_summary": "MIM is able to bind to the intracellular mediators of Shh sig ling Sufu and Gli and positively regulate the pathway (17497115). MIM is part of a basal body complex required for primary cilia mainte nce and Shh sig ling, and functions by a mechanism that involves antagonism of CTTN phosphorylation by p60 Src ki se. MIM is required in the dermal papilla for primary cilia formation and hair follicle regeneration (20708589).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "17497115 , 20708589", "complex_components": {}, "pfam_ids": ["PF02205", "PF08397"], "domain_descriptions": ["WH2 domain", "IMD/I-BAR domain", "AH/BAR domain superfamily", "I-BAR domain containing protein MTSS1/MTSS2"], "string_link": "https://string-db.org/network/9606/ENSG00000170873", "synonym": "KIAA0429, MIM, MIMA, MIMB", "ortholog_mouse": "Mtss1", "ortholog_c_elegans": "M04F3.5", "ortholog_xenopus": "mtss1", "ortholog_zebrafish": "mtss1", "ortholog_drosophila": "mim", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.813, "sd_percent_ciliated": 3.7455, "z_score": -0.2661, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.66, "sd_percent_ciliated": 2.66, "z_score": 2.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2815, "sd_percent_ciliated": -0.2815, "z_score": -0.2815, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MUC1", "ensembl_id": "ENSG00000185499", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mucin 1, cell surface associated [Source:HGNC Symbol,Acc:HGNC:7508]", "omim_id": "158340", "functional_summary": "MUC1 and MUC4 together in the same preparation showed spatial co-localization in the cell surface regions corresponding to the microvilli of ciliated cells at the base of the cilia (22929560).", "localization": "cilia, basal body, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.292956E7", "complex_components": ["MUC1", "RELA", "SH3KBP1", "GRB2", "SOS1"], "pfam_ids": "PF01390", "domain_descriptions": ["SEA domain", "SEA domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000185499", "synonym": "ADMCKD, ADMCKD1, CA15-3, CD227, EMA, KL-6, MCD, MCKD, MCKD1, PEM, PUM", "ortholog_mouse": "Muc1", "ortholog_c_elegans": "cnp-2, Y46B2A.3", "ortholog_xenopus": "muc1", "ortholog_drosophila": "Muc11A, Muc12Ea", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.51, "z_score": -1.5602, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 17.3842, "z_score": -2.4989, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.2413 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.07, "z_score": 4.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 4.07 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4378, "z_score": -2.4378, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.4378 } ] }, { "gene": "MUC20", "ensembl_id": "ENSG00000274843", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mucin 20, cell surface associated [Source:HGNC Symbol,Acc:HGNC:23282]", "omim_id": "610360", "functional_summary": "It is likely MUC20 is secreted/shed from the epithelium into airway secretions (22929560).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.292956E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000274843", "synonym": "FLJ14408, KIAA1359", "ortholog_mouse": "Muc20", "screens": {} }, { "gene": "MUC4", "ensembl_id": "ENSG00000277585", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "mucin 4, cell surface associated [Source:HGNC Symbol,Acc:HGNC:7514]", "omim_id": "158372", "functional_summary": "MUC1 and MUC4 together in the same preparation showed spatial co-localization in the cell surface regions corresponding to the microvilli of ciliated cells at the base of the cilia (22929560).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.292956E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000277585", "synonym": "ASGP, MUC-4", "ortholog_mouse": "Muc4", "ortholog_xenopus": "LOC100485006", "screens": {} }, { "gene": "MUC5AC", "ensembl_id": "ENSG00000291363", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "mucin 5AC, oligomeric mucus/gel-forming [Source:HGNC Symbol,Acc:HGNC:7515]", "omim_id": "158373", "functional_summary": "MUC5B mobilizes and MUC5AC spatially aligns mucociliary transport on human airway epithelium ( 36427316)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6427316E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291363", "synonym": "MUC5", "ortholog_mouse": "Muc5ac", "ortholog_xenopus": "LOC108647333, muc5ac", "ortholog_zebrafish": "muc5d", "ortholog_drosophila": "Hml", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.8, "sd_percent_ciliated": 1.8, "z_score": 1.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2906, "sd_percent_ciliated": -3.2906, "z_score": -3.2906, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MUC5B", "ensembl_id": "ENSG00000117983", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "mucin 5B, oligomeric mucus/gel-forming [Source:HGNC Symbol,Acc:HGNC:7516]", "omim_id": "600770", "functional_summary": "MUC5B mobilizes and MUC5AC spatially aligns mucociliary transport on human airway epithelium ( 36427316)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6427316E7", "complex_components": ["MUC5B", "PIK3CA"], "pfam_ids": ["PF13330", "PF08742", "PF00094", "PF01826", "PF00093"], "domain_descriptions": ["VWFC domain", "von Willebrand factor", "type D domain", "Trypsin Inhibitor-like", "cysteine rich domain", "Cystine knot", "C-terminal", "VWF/SSPO/Zonadhesin-like", "cysteine-rich domain", "WxxW domain", "Serine protease inhibitor-like superfamily", "Mucin/von Willebrand/Thrombospondin superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000117983", "synonym": "MG1, MUC-5B, MUC5", "ortholog_mouse": "Muc5b", "ortholog_xenopus": "LOC100495470", "ortholog_zebrafish": "muc5d", "ortholog_drosophila": "Hml", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0193, "sd_percent_ciliated": 0.0193, "z_score": 0.0193, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8161, "sd_percent_ciliated": -1.8161, "z_score": -1.8161, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MXI1", "ensembl_id": "ENSG00000119950", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "MAX interactor 1, dimerization protein [Source:HGNC Symbol,Acc:HGNC:7534]", "omim_id": "600020", "functional_summary": "Ciliogenesis and Ift20 expression were regulated by Mxi1 in vitro. Mxi1 regulates Ift20 promoter activity via Ets-1 binding to the Ift20 promoter ( 23316056).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.3316056E7", "complex_components": ["BACH1", "ERCC3", "GJB6", "KLF10", "MXI1", "PSMC3", "SMAD9", "TGFBI"], "pfam_ids": "PF00010", "domain_descriptions": ["Myc-type", "basic helix-loop-helix (bHLH) domain", "Helix-loop-helix DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000119950", "synonym": "BHLHC11, MAD2, MXD2, MXI", "ortholog_mouse": "Mxi1", "ortholog_c_elegans": "mdl-1", "ortholog_xenopus": "mxi1", "ortholog_zebrafish": "mxi1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.6265, "sd_percent_ciliated": 2.1353, "z_score": 0.1959 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.94, "sd_percent_ciliated": 1.94, "z_score": 1.94 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.1025, "sd_percent_ciliated": 2.1025, "z_score": 2.1025 } ] }, { "gene": "MYB", "ensembl_id": "ENSG00000118513", "overexpression_effects": "Not Reported", "lof_effects": "Delayed multiciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "MYB proto-oncogene, transcription factor [Source:HGNC Symbol,Acc:HGNC:7545]", "omim_id": "189990", "functional_summary": "Activates endogenous Foxj1 expression, stimulates a cotransfected Foxj1 reporter in heterologous cells and regulates centriole amplification, which in turn activates centriole docking and the assembly of a motile cilium, so it drives a complete multiciliogenesis program (24048590).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "25881509, 25494100 ,24048590", "complex_components": {}, "pfam_ids": ["PF07988", "PF00249", "PF09316"], "domain_descriptions": ["SANT/Myb domain", "Homedomain-like superfamily", "Transcription regulator Wos2-domain", "C-myb", "C-terminal", "Myb domain", "Transcription factors Myb-like"], "string_link": "https://string-db.org/network/9606/ENSG00000118513", "synonym": "C-MYB", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Myb", "ortholog_xenopus": "myb", "ortholog_zebrafish": "myb", "ortholog_drosophila": "Myb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.8399, "sd_percent_ciliated": 10.2265, "z_score": 0.2218, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.39, "sd_percent_ciliated": 4.39, "z_score": 4.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9601, "sd_percent_ciliated": -1.9601, "z_score": -1.9601, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MYCBPAP", "ensembl_id": "ENSG00000136449", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "MYCBP associated protein [Source:HGNC Symbol,Acc:HGNC:19677]", "omim_id": "609835", "functional_summary": "Positive staining for motile ciliated cells was observed in the mouse brain, however, ISH staining of ependymal cells lining the choroid plexus in the chickens was only observed in the cases of EFCAB6, FAM183A and MYCBPAP (32616903).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.2616903E7", "complex_components": ["CA9", "MYCBPAP"], "pfam_ids": "PF14646", "domain_descriptions": ["Immunoglobulin-like fold", "MYCBP-associated protein"], "string_link": "https://string-db.org/network/9606/ENSG00000136449", "synonym": "AMAP-1, DKFZP434N1415", "ortholog_mouse": "Mycbpap", "ortholog_xenopus": "mycbpap", "ortholog_zebrafish": "mycbpap", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.5125, "sd_percent_ciliated": 10.852, "z_score": -0.1813 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0179, "sd_percent_ciliated": 0.0179, "z_score": 0.0179 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 3.051, "sd_percent_ciliated": 3.051, "z_score": 3.051 } ] }, { "gene": "MYH10", "ensembl_id": "ENSG00000133026", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Decreased", "description": "myosin heavy chain 10 [Source:HGNC Symbol,Acc:HGNC:7568]", "omim_id": "160776", "functional_summary": "Regulators of the actin cytoskeleton. Required for centriole migration to the apical plasma membrane during the biogenesis of primary cilia. Regulates centrosomal recruitment of IFT88 required for ciliary tip structure (25881509). Required for pericentrosomal recruitment of Cep290, PCM- 1 and Rab11-positive recycling endosomes. It binds and antagonises Myh9 to increase actin dy mics and facilitate the assembly of the pericentrosomal preciliary complex that supplies materials for cilium growth and initiates ciliogenesis (25494100).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "14610277 ,25881509", "complex_components": ["ACTB", "HSPA4", "MYH10", "NCL", "NONO", "NPM1", "PARP1", "RAD50", "TLE1", "TOP2B", "HDAC6"], "pfam_ids": ["PF00612", "PF02736", "PF01576", "PF00063"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Myosin head", "motor domain-like", "Myosin tail", "Myosin", "N-terminal", "SH3-like", "Myosin S1 fragment", "N-terminal", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000133026", "synonym": "NMMHCB", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Myh10", "ortholog_c_elegans": "nmy-1, nmy-2", "ortholog_xenopus": "LOC100493774", "ortholog_zebrafish": "myh10", "ortholog_drosophila": "zip", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.85, "sd_percent_ciliated": 0.85, "z_score": 0.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.9877, "sd_percent_ciliated": 2.9877, "z_score": 2.9877, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MYH13", "ensembl_id": "ENSG00000006788", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "myosin heavy chain 13 [Source:HGNC Symbol,Acc:HGNC:7571]", "omim_id": "603487", "functional_summary": "Immunocytochemistry for proteins encoded by PRKD1, MYO7A, AK9, CWH43, OTOG, NOTCH1, HAVCR1, SPG11, MYH13, and RXFP2 showed increased expression in the ciliated choroid plexus and ventricular ependyma ( 38100419).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development, Muscle contraction & physiology", "reference": "3.8100419E7", "complex_components": {}, "pfam_ids": ["PF01576", "PF00063", "PF02736"], "domain_descriptions": ["Myosin head", "motor domain-like", "Myosin tail", "Myosin", "N-terminal", "SH3-like", "Myosin S1 fragment", "N-terminal", "DNA repair protein XRCC4-like", "C-terminal", "P-loop containing nucleoside triphosphate hydrolase", "Kinesin motor domain superfamily", "Myosin-13", "motor domain"], "string_link": "https://string-db.org/network/9606/ENSG00000006788", "synonym": "MYHC-EO", "ortholog_mouse": "Myh13", "ortholog_c_elegans": "myo-1, myo-2, myo-5, unc-54", "ortholog_xenopus": "LOC101730386", "ortholog_zebrafish": "myhc4, myhz1.1, myhz1.2, myhz1.3, myhz2", "ortholog_drosophila": "Mhc", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.9253, "z_score": 1.0736, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 61.0425, "z_score": 2.7906, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.5209 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5686, "z_score": 0.5686, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.5686 } ] }, { "gene": "MYH9", "ensembl_id": "ENSG00000100345", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "myosin heavy chain 9 [Source:HGNC Symbol,Acc:HGNC:7579]", "omim_id": "160775", "functional_summary": "NEK9 interacts with MYH9 (also known as myosin IIA), which has been implicated in inhibiting ciliogenesis through stabilization of the actin network. MYH9 accumulates in NEK9 LIR mutant cells and mice, and depletion of MYH9 restores ciliogenesis in NEK9 LIR mutant cells ( 34078910).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "3.407891E7", "complex_components": ["ACTA2", "MYH9", "MYL12A", "MYL6", "WAS", "WIPF1", "ACTB", "CNN3", "EMD", "LMO7", "MYO1E", "SIKE1", "SPTAN1", "CD4", "LCK", "PTPRC", "PTPRCAP", "TFRC", "TUBA1C", "TUBB", "VIM", "TUBB4A", "TUBB2A", "TUBB2B"], "pfam_ids": ["PF01576", "PF02736", "PF00063"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Myosin head", "motor domain-like", "Myosin tail", "Myosin", "N-terminal", "SH3-like", "Myosin S1 fragment", "N-terminal", "P-loop containing nucleoside triphosphate hydrolase", "RGS domain superfamily", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100345", "synonym": "DFNA17, EPSTS, FTNS, MHA, NMHC-II-A, NMMHCA", "ortholog_mouse": "Myh9", "ortholog_c_elegans": "nmy-1, nmy-2", "ortholog_xenopus": "myh9", "ortholog_zebrafish": "myh9a, myh9b", "ortholog_drosophila": "zip", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.618, "sd_percent_ciliated": 17.398, "z_score": 0.0738 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.51, "sd_percent_ciliated": 2.51, "z_score": 2.51 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9752, "sd_percent_ciliated": -5.9752, "z_score": -5.9752 } ] }, { "gene": "MYO1C", "ensembl_id": "ENSG00000197879", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "myosin IC [Source:HGNC Symbol,Acc:HGNC:7597]", "omim_id": "606538", "functional_summary": "Myo1c binding is modulated by CaM, which implicated the CaM-binding IQ domains in receptor interactions.Myo1c immunoreactivity was also present in the kinocilium, an axonemal cilium located at the tall edge of the hair bundle, and in the kinociliary bulb (11923413).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1923413E7", "complex_components": ["BAZ1B", "DDX21", "DEK", "ERCC6", "MYBBP1A", "MYO1C", "SF3B1", "SMARCA5", "SPEF2"], "pfam_ids": ["PF00612", "PF06017", "PF00063"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Myosin head", "motor domain-like", "Class I myosin tail homology domain", "P-loop containing nucleoside triphosphate hydrolase", "Class I myosin", "motor domain", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000197879", "synonym": "MYOIC, MYR2, NMI", "ortholog_mouse": "Myo1c, Nmi", "ortholog_xenopus": "myo1c, nmi", "ortholog_zebrafish": "myo1ca, myo1cb, nmi", "ortholog_drosophila": "Myo61F", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.8832, "sd_percent_ciliated": 3.0047, "z_score": -0.3787 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.48, "sd_percent_ciliated": 1.48, "z_score": 1.48 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.7501, "sd_percent_ciliated": -3.7501, "z_score": -3.7501 } ] }, { "gene": "MYO1D", "ensembl_id": "ENSG00000176658", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "myosin ID [Source:HGNC Symbol,Acc:HGNC:7598]", "omim_id": "606539", "functional_summary": "Myo1D controls the orientation of LRO cilia and interacts functio lly with the pla r cell polarity (PCP) pathway component VanGogh-like2 (Vangl2), to shape a productive LRO flow. Our findings identify Myo1D as an evolutio rily conserved regulator of animal LR asymmetry, and show that functio l interactions between Myo1D and PCP are central to the establishment of animal LR asymmetry ( 29769531).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.9769531E7", "complex_components": {}, "pfam_ids": ["PF00063", "PF00612", "PF06017"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Myosin head", "motor domain-like", "Class I myosin tail homology domain", "P-loop containing nucleoside triphosphate hydrolase", "Class I myosin", "motor domain", "Kinesin motor domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000176658", "synonym": "KIAA0727, MYR4, PPP1R108", "ortholog_mouse": "Myo1d", "ortholog_c_elegans": "hum-5", "ortholog_xenopus": "myo1d", "ortholog_zebrafish": "myo1d", "ortholog_drosophila": "Myo31DF", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5961, "sd_percent_ciliated": 4.732, "z_score": -0.4135, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.17, "sd_percent_ciliated": 2.17, "z_score": 2.17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7812, "sd_percent_ciliated": -2.7812, "z_score": -2.7812, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MYO3B", "ensembl_id": "ENSG00000071909", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "myosin IIIB [Source:HGNC Symbol,Acc:HGNC:15576]", "omim_id": "610040", "functional_summary": "Mediates movement along actin filaments in the cell (26098909). Prevents photoreceptor loss of function caused by Myo3A defects, as it could provide functio l redundancy for Myo3A (19332056 ).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28710093, 29335527, 28266547", "complex_components": {}, "pfam_ids": ["PF00069", "PF00063", "PF00612"], "domain_descriptions": ["Protein kinase domain", "Myosin head", "motor domain-like", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "P-loop containing nucleoside triphosphate hydrolase", "Class III myosin", "motor domain", "Kinesin motor domain superfamily", "Myosin-III family with kinase activity", "IQ motif", "EF-hand binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000071909", "ortholog_mouse": "Myo3b", "ortholog_xenopus": "myo3b", "ortholog_zebrafish": "myo3b", "ortholog_drosophila": "ninaC", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.8417, "sd_percent_ciliated": 2.0318, "z_score": -0.6261, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.97, "sd_percent_ciliated": 3.97, "z_score": 3.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4382, "sd_percent_ciliated": -3.4382, "z_score": -3.4382, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MYO5A", "ensembl_id": "ENSG00000197535", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Decreased", "description": "myosin VA [Source:HGNC Symbol,Acc:HGNC:7602]", "omim_id": "160777", "functional_summary": "Knockout results in reduction in ciliation, suggesting MYO5A is required for ciliogenesis. It might link microtubule cargo from Golgi or cilium (28710093). It mediates the transportation of preciliary vesicles to the mother centriole, depletion inhibits the attachment of preciliary vesicles to the distal appendages of the mother centriole and decreases cilia assembly (29335527). Interacts with the cilia- centrosomal protein RPGRIP1L (28266547).", "localization": "transition zone, basal body , cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "7870171, 9678669, 9227854, 10414956", "complex_components": ["DLC1", "DLGAP1", "MYO5A"], "pfam_ids": ["PF00612", "PF01843", "PF00063"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "Myosin head", "motor domain-like", "Dilute domain", "Myosin", "N-terminal", "SH3-like", "P-loop containing nucleoside triphosphate hydrolase", "Class V myosin", "motor domain", "Kinesin motor domain superfamily", "Myosin 5a", "cargo-binding domain", "Vascular development regulator domain-containing protein", "Unconventional class IX myosin"], "string_link": "https://string-db.org/network/9606/ENSG00000197535", "synonym": "GS1, MYH12, MYO5, MYR12", "ortholog_mouse": "Myo5a", "ortholog_c_elegans": "hum-2", "ortholog_xenopus": "myo5a", "ortholog_zebrafish": "myo5aa, myo5ab", "ortholog_drosophila": "didum", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.7408, "sd_percent_ciliated": 4.677, "z_score": -0.1537, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.62, "sd_percent_ciliated": 6.62, "z_score": 6.62, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3933, "sd_percent_ciliated": -3.3933, "z_score": -3.3933, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MYO7A", "ensembl_id": "ENSG00000137474", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "myosin VIIA [Source:HGNC Symbol,Acc:HGNC:7606]", "omim_id": "276903", "functional_summary": "Responsible for Usher syndrome type 1B (PMID:7870171). requiredfor normal hair cell development, as well as for thefunction of the mature hair cells (9678669). It might be required for the transport of newly synthesized outer segment proteins to the site of disk membrane assembly (9227854). Myosin VIIa participates in the transport of opsin through the connecting cilium (10414956).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "26880200, 21394081, 7870171", "complex_components": ["MYO7A", "PDZD7", "USH1C", "USH1G", "Whrn"], "pfam_ids": ["PF02174", "PF00063", "PF00784", "PF24123", "PF21989", "PF00612", "PF21998", "PF00373"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "FERM domain", "MyTH4 domain", "SH3 domain", "Myosin head", "motor domain-like", "IRS-type PTB domain", "PH-like domain superfamily", "FERM/acyl-CoA-binding protein superfamily", "FERM central domain", "Band 4.1 domain", "P-loop containing nucleoside triphosphate hydrolase", "Ubiquitin-like domain superfamily", "FERM superfamily", "second domain", "SH3-like domain superfamily", "Class VII myosin", "motor domain", "Kinesin motor domain superfamily", "MyTH4 domain superfamily", "Myosin VII", "FERM domain C-lobe", "repeat 1", "Myosin VII", "FERM domain C-lobe", "repeat 2", "Unconventional Myosin ATPase", "", "Actin-based Motor Myosin"], "string_link": "https://string-db.org/network/9606/ENSG00000137474", "synonym": "DFNA11, DFNB2, NSRD2, USH1B", "ortholog_mouse": "Myo7a", "ortholog_c_elegans": "hum-6", "ortholog_xenopus": "myo7a", "ortholog_zebrafish": "myo7aa, myo7ab", "ortholog_drosophila": "ck", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.9623, "sd_percent_ciliated": 1.5397, "z_score": -0.1268, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.86, "sd_percent_ciliated": 0.86, "z_score": 0.86, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.1, "sd_percent_ciliated": -13.1, "z_score": -13.1, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "MYOF", "ensembl_id": "ENSG00000138119", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "myoferlin [Source:HGNC Symbol,Acc:HGNC:3656]", "omim_id": "604603", "functional_summary": "Myoferlin (MYOF) and Oxysterol Binding Protein Like 10 (OSBPL10) were detected at the basal body and that NRP1 was localised along the ciliary shaft., MYOF has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF16165", "PF00168", "PF08150", "PF08151", "PF08165", "PF22901"], "domain_descriptions": ["C2 domain", "Peroxin/Ferlin domain", "Ferlin A-domain", "Ferlin B-domain", "FerIin domain", "Ferlin", "C-terminal domain", "C2 domain superfamily", "Ferlin", "second C2 domain", "Ferlin family", "Ferlin", "third C2 domain", "Ferlin", "fourth C2 domain", "Ferlin", "fifth C2 domain", "Ferlin", "sixth C2 domain", "Ferlin", "first C2 domain", "Ferlin", "dsRNA-binding domain-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138119", "synonym": "FER1L3, KIAA1207", "ortholog_mouse": "Myof", "ortholog_c_elegans": "fer-1", "ortholog_xenopus": "myof", "ortholog_zebrafish": "myof, myofl", "ortholog_drosophila": "mfr", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.588, "sd_percent_ciliated": -3.588, "z_score": -3.588, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NAA10", "ensembl_id": "ENSG00000102030", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "N-alpha-acetyltransferase 10, NatA catalytic subunit [Source:HGNC Symbol,Acc:HGNC:18704]", "omim_id": "300013", "functional_summary": "ARD1 and T1 colocalized with MTs in cultured hippocampal neurons and fibroblasts, and that ARD1 activity post-translatio lly mediated acetylation in the purified tubulin fraction in vitro. the N-acetyltransferase activity of the ARD1– T1 complex regulates dendritic arborization in neuro l cells. ARD1 and T1 colocalize with MTs and also colocalized with acetylated α-tubulin in neuro l dendrites in dendrites( 19090811).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "1.9090811E7", "complex_components": ["NAA10", "NAA15", "HYPK", "NAA16", "NAA50"], "pfam_ids": "PF00583", "domain_descriptions": ["GNAT domain", "Acyl-CoA N-acyltransferase", "N-acetyltransferase Ard1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000102030", "synonym": "ARD1, ARD1A, DXS707, TE2", "ortholog_mouse": "Naa10", "ortholog_c_elegans": "daf-31", "ortholog_xenopus": "naa10", "ortholog_zebrafish": "naa10", "ortholog_drosophila": "vnc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.34, "sd_percent_ciliated": 2.34, "z_score": 2.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.4259, "sd_percent_ciliated": -7.4259, "z_score": -7.4259, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NAA11", "ensembl_id": "ENSG00000156269", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "N-alpha-acetyltransferase 11, NatA catalytic subunit [Source:HGNC Symbol,Acc:HGNC:28125]", "omim_id": "619432", "functional_summary": "A11 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00583", "domain_descriptions": ["GNAT domain", "Acyl-CoA N-acyltransferase", "N-acetyltransferase Ard1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000156269", "synonym": "ARD1B, ARD2, HARD2", "ortholog_mouse": "Naa11, Txnl4a", "ortholog_c_elegans": "daf-31", "ortholog_xenopus": "naa10", "ortholog_zebrafish": "naa10", "ortholog_drosophila": "vnc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.848, "sd_percent_ciliated": 0.848, "z_score": 0.848, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.964, "sd_percent_ciliated": -0.964, "z_score": -0.964, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NALCN", "ensembl_id": "ENSG00000102452", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sodium leak channel, non-selective [Source:HGNC Symbol,Acc:HGNC:19082]", "omim_id": "611549", "functional_summary": "LCN has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NALCN", "UNC79", "UNC80"], "pfam_ids": "PF00520", "domain_descriptions": ["Ion transport domain", "Voltage-dependent channel domain superfamily", "Sodium leak channel NALCN"], "string_link": "https://string-db.org/network/9606/ENSG00000102452", "synonym": "BA430M15.1, CANION, VGCNL1", "ortholog_mouse": "Nalcn", "ortholog_c_elegans": "F17C8.6, nca-2, unc-77", "ortholog_xenopus": "nalcn", "ortholog_zebrafish": "nalcn", "ortholog_drosophila": "na", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.255, "sd_percent_ciliated": -3.255, "z_score": -3.255, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NANOG", "ensembl_id": "ENSG00000111704", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Nanog homeobox [Source:HGNC Symbol,Acc:HGNC:20857]", "omim_id": "607937", "functional_summary": "Cytoplasmic NOG was unevenly distributed at the centrosome pair during the cell cycle and colocalized with the distal region of the mother centriole, and its presence was markedly associated with centriole maturation. Along with the finding that the centrosomal localization of NOG/ NOGP8 was detected in various tumor and non-tumor cell types, these results provide the first evidence suggesting a common centrosome-specific role of NOG(32168958).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transcription regulation", "reference": "3.2168958E7", "complex_components": ["GJB2", "NANOG", "PTK2"], "pfam_ids": "PF00046", "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Homeobox", "conserved site", "Distal-less homeobox transcription factors"], "string_link": "https://string-db.org/network/9606/ENSG00000111704", "synonym": "FLJ12581, FLJ40451", "ortholog_mouse": "Nanog", "ortholog_zebrafish": "nanog", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.6144, "sd_percent_ciliated": 0.5725, "z_score": 0.0733, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.36, "sd_percent_ciliated": 0.36, "z_score": 0.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8721, "sd_percent_ciliated": -0.8721, "z_score": -0.8721, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NANOGP8", "ensembl_id": "ENSG00000255192", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Nanog homeobox retrogene P8 [Source:HGNC Symbol,Acc:HGNC:23106]", "functional_summary": "Along with the finding that the centrosomal localization of NOG/ NOGP8 was detected in various tumor and non-tumor cell types, these results provide the first evidence suggesting a common centrosome-specific role of NOG(32168958).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "3.2168958E7", "complex_components": {}, "pfam_ids": "PF00046", "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Homeobox", "conserved site", "Distal-less homeobox transcription factors"], "string_link": "https://string-db.org/network/9606/ENSG00000255192", "ortholog_mouse": "Nanog", "ortholog_zebrafish": "nanog", "screens": {} }, { "gene": "NARF", "ensembl_id": "ENSG00000141562", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "nuclear prelamin A recognition factor [Source:HGNC Symbol;Acc:HGNC:29916]", "omim_id": "605349", "functional_summary": "Loss of NARF gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141562", "synonym": "DKFZP434G0420; FLJ10067; IOP2", "ortholog_mouse": "Narf", "ortholog_c_elegans": "oxy-4", "ortholog_xenopus": "narf", "ortholog_zebrafish": "narf", "ortholog_drosophila": "CG17683", "screens": [] }, { "gene": "NAT1", "ensembl_id": "ENSG00000171428", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "N-acetyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:7645]", "omim_id": "108345", "functional_summary": "ARD1 and T1 colocalized with MTs in cultured hippocampal neurons and fibroblasts, and that ARD1 activity post-translatio lly mediated acetylation in the purified tubulin fraction in vitro. the N-acetyltransferase activity of the ARD1– T1 complex regulates dendritic arborization in neuro l cells.ARD1 and T1 colocalize with MTs and also colocalized with acetylated α-tubulin in neuro l dendrites in dendrites( 19090811).", "localization": "Ciliary associated gene, Cytosol, Ribosome", "functional_category": "Ciliary assembly/disassembly", "reference": "1.9090811E7", "complex_components": {}, "pfam_ids": "PF00797", "domain_descriptions": ["Arylamine N-acetyltransferase", "Papain-like cysteine peptidase superfamily", "Arylamine N-acetyltransferase domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000171428", "synonym": "AAC1", "ortholog_mouse": "Nat1, Nat2, Nat3", "ortholog_xenopus": "nat2", "ortholog_zebrafish": "si:dkey-78a14.4, si:dkey-78a14.5, si:rp71-1f1.5, zgc:101040, zgc:103601", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.7135, "sd_percent_ciliated": 1.2512, "z_score": 0.8123 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.95, "sd_percent_ciliated": 3.95, "z_score": 3.95 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.08, "sd_percent_ciliated": 2.08, "z_score": 2.08 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.64, "sd_percent_ciliated": 0.64, "z_score": 0.64 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0858, "sd_percent_ciliated": 0.0858, "z_score": 0.0858 } ] }, { "gene": "NAV1", "ensembl_id": "ENSG00000134369", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuron navigator 1 [Source:HGNC Symbol,Acc:HGNC:15989]", "omim_id": "611628", "functional_summary": "AnkG and v1.2 but not v1.6 or Kv1.1 localized to cilia with 5-HT6R upregulation (31186137).", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism", "reference": "3.1186137E7", "complex_components": {}, "pfam_ids": "PF23092", "domain_descriptions": ["AAA+ ATPase domain", "P-loop containing nucleoside triphosphate hydrolase", "Nav/unc-53 family"], "string_link": "https://string-db.org/network/9606/ENSG00000134369", "synonym": "DKFZP781D0314, FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, STEERIN-1", "ortholog_mouse": "Nav1", "ortholog_c_elegans": "unc-53", "ortholog_xenopus": "nav1", "ortholog_zebrafish": "nav1a, nav1b", "ortholog_drosophila": "Nav", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.6125, "sd_percent_ciliated": 4.6269, "z_score": 0.8 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.262, "sd_percent_ciliated": 0.262, "z_score": 0.262 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -13.1432, "sd_percent_ciliated": -13.1432, "z_score": -13.1432 } ] }, { "gene": "NBEAL2", "ensembl_id": "ENSG00000160796", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neurobeachin like 2 [Source:HGNC Symbol,Acc:HGNC:31928]", "omim_id": "614169", "functional_summary": "Cultured stromal fibroblasts show punctate cytoplasmic staining of NBEAL2 with some colocalization with alpha tubulin in the cell periphery, strong NBEAL2 staining in all layers of the corneal epithelium and some stromal keratocytes . ( 33729517).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3729517E7", "complex_components": {}, "pfam_ids": ["PF02138", "PF15787", "PF20425", "PF16057", "PF14844", "PF20426"], "domain_descriptions": ["BEACH domain", "WD40 repeat", "Armadillo-like helical", "PH-like domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "Armadillo-type fold", "PH-BEACH domain", "Neurobeachin/BDCP", "DUF4704", "WD40-repeat-containing domain superfamily", "BEACH domain superfamily", "Neurobeachin", "beta-propeller domain", "Neurobeachin", "alpha-solenoid region", "BEACH Domain-Containing"], "string_link": "https://string-db.org/network/9606/ENSG00000160796", "synonym": "KIAA0540", "ortholog_mouse": "Nbeal2", "ortholog_xenopus": "nbeal2", "ortholog_zebrafish": "nbeal2", "ortholog_drosophila": "CG43367", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "NBPF1", "ensembl_id": "ENSG00000219481", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 1 [Source:HGNC Symbol,Acc:HGNC:26088]", "omim_id": "610501", "functional_summary": "NBPF1 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000219481", "synonym": "FLJ20719, KIAA1693", "screens": {} }, { "gene": "NBPF10", "ensembl_id": "ENSG00000271425", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 10 [Source:HGNC Symbol,Acc:HGNC:31992]", "omim_id": "614000", "functional_summary": "NBPF10 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000271425", "synonym": "AG1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.9399, "sd_percent_ciliated": 5.0153, "z_score": -0.493 } ] }, { "gene": "NBPF11", "ensembl_id": "ENSG00000263956", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 11 [Source:HGNC Symbol,Acc:HGNC:31993]", "omim_id": "614001", "functional_summary": "NBPF11 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000263956", "synonym": "NBPF24", "screens": {} }, { "gene": "NBPF12", "ensembl_id": "ENSG00000268043", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 12 [Source:HGNC Symbol,Acc:HGNC:24297]", "omim_id": "608607", "functional_summary": "NBPF12 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000268043", "synonym": "COAS1, KIAA1245", "screens": {} }, { "gene": "NBPF14", "ensembl_id": "ENSG00000270629", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 14 [Source:HGNC Symbol,Acc:HGNC:25232]", "omim_id": "614003", "functional_summary": "NBPF14 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000270629", "synonym": "DJ328E19.C1.1", "screens": {} }, { "gene": "NBPF15", "ensembl_id": "ENSG00000266338", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 15 [Source:HGNC Symbol,Acc:HGNC:28791]", "omim_id": "610414", "functional_summary": "NBPF15 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000266338", "synonym": "MGC8902, NBPF16", "screens": {} }, { "gene": "NBPF19", "ensembl_id": "ENSG00000271383", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 19 [Source:HGNC Symbol,Acc:HGNC:31999]", "omim_id": "614006", "functional_summary": "NBPF19 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000271383", "screens": {} }, { "gene": "NBPF20", "ensembl_id": "ENSG00000162825", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 20 [Source:HGNC Symbol,Acc:HGNC:32000]", "omim_id": "614007", "functional_summary": "NBPF20 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000162825", "screens": {} }, { "gene": "NBPF26", "ensembl_id": "ENSG00000273136", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 26 [Source:HGNC Symbol,Acc:HGNC:49571]", "functional_summary": "NBPF26 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000273136", "screens": {} }, { "gene": "NBPF8", "ensembl_id": "ENSG00000270231", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 8 [Source:HGNC Symbol,Acc:HGNC:31990]", "omim_id": "613998", "functional_summary": "NBPF8 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000270231", "synonym": "NBPF8P", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.061, "z_score": 0.4915, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.1343, "z_score": 1.1056, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 5.3574 } ] }, { "gene": "NBPF9", "ensembl_id": "ENSG00000269713", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NBPF member 9 [Source:HGNC Symbol,Acc:HGNC:31991]", "omim_id": "613999", "functional_summary": "NBPF9 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06758", "domain_descriptions": ["Olduvai domain", "NBPF"], "string_link": "https://string-db.org/network/9606/ENSG00000269713", "synonym": "AE01", "screens": {} }, { "gene": "NCAPD2", "ensembl_id": "ENSG00000010292", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "non-SMC condensin I complex subunit D2 [Source:HGNC Symbol,Acc:HGNC:24305]", "omim_id": "615638", "functional_summary": "NCAPD2 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NCAPD2", "NCAPG", "NCAPH", "SMC2", "SMC4", "PARP1", "XRCC1"], "pfam_ids": ["PF12922", "PF12717"], "domain_descriptions": ["Condensin subunit 1", "Armadillo-type fold", "Condensin complex subunit 1", "N-terminal", "Condensin subunit 1/Condensin-2 complex subunit D3", "Armadillo-like helical", "Condensin complex subunit 1", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000010292", "synonym": "CAP-D2, CNAP1, HCAP-D2, KIAA0159", "ortholog_mouse": "Ncapd2", "ortholog_c_elegans": "dpy-28", "ortholog_xenopus": "ncapd2", "ortholog_zebrafish": "ncapd2", "ortholog_drosophila": "Cap-D2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13.2, "sd_percent_ciliated": 13.2, "z_score": 13.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.7813, "sd_percent_ciliated": -7.7813, "z_score": -7.7813, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NCBP2", "ensembl_id": "ENSG00000114503", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nuclear cap binding protein subunit 2 [Source:HGNC Symbol,Acc:HGNC:7659]", "omim_id": "605133", "functional_summary": "NCBP2 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NCBP1", "NCBP2", "PHAX", "RAN", "XPO1", "CTIF", "EIF3B", "EIF4A3", "UPF3B", "ACIN1", "AGGF1", "BCAS2", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDC5L", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "CWC15", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NRIP2", "PCBP1", "PHF5A", "PLRG1", "PNN", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF19", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RBMX", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SRRM1", "SRRM2", "SRRT", "SRSF1", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207", "ACTBL2", "ACTL6A", "ALYREF", "ARID1A", "ARID1B", "ARID2", "CHD4", "CHD8", "CPSF1", "CPSF6", "CPSF7", "DDX20", "DDX39A", "DDX39B", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPL", "HNRNPM", "KHSRP", "LSM4", "LUC7L2", "LUC7L3", "MTREX", "NUDT21", "PBRM1", "PCBP2", "PPIH", "PRPF31", "PRPF4", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART3", "SCAF4", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP40", "SREK1", "SRSF11", "SRSF8", "STRAP", "USP39", "ZCCHC8"], "pfam_ids": "PF00076", "domain_descriptions": ["RNA recognition motif domain", "Nucleotide-binding alpha-beta plait domain superfamily", "Nuclear cap-binding protein subunit 2", "RNA-binding domain superfamily", "NCBP2", "RNA recognition motif"], "string_link": "https://string-db.org/network/9606/ENSG00000114503", "synonym": "CBC2, CBP20, NIP1", "ortholog_mouse": "Ncbp2", "ortholog_c_elegans": "ncbp-2", "ortholog_xenopus": "ncbp2", "ortholog_zebrafish": "ncbp2", "ortholog_drosophila": "Cbp20", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.8925, "sd_percent_ciliated": 0.446, "z_score": -0.3776, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12.5, "sd_percent_ciliated": 12.5, "z_score": 12.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.4853, "sd_percent_ciliated": -4.4853, "z_score": -4.4853, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NCS1", "ensembl_id": "ENSG00000107130", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "neuronal calcium sensor 1 [Source:HGNC Symbol,Acc:HGNC:3953]", "omim_id": "603315", "functional_summary": "NCS1 and C3ORF14 proteins localized at the distal appendage (36711481).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6711481E7", "complex_components": {}, "pfam_ids": ["PF00036", "PF13499"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Recoverin family"], "string_link": "https://string-db.org/network/9606/ENSG00000107130", "synonym": "FREQ, NCS-1", "ortholog_mouse": "Ncs1", "ortholog_c_elegans": "ncs-1", "ortholog_xenopus": "ncs1", "ortholog_zebrafish": "ncs1a, ncs1b", "ortholog_drosophila": "Frq1, Frq2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.599, "sd_percent_ciliated": 0.599, "z_score": 0.599, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0833, "sd_percent_ciliated": -2.0833, "z_score": -2.0833, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NDE1", "ensembl_id": "ENSG00000072864", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "nudE neurodevelopment protein 1 [Source:HGNC Symbol,Acc:HGNC:17619]", "omim_id": "609449", "functional_summary": "Negative regulator of ciliary length via interaction with LC8. Its depletion causes longer cilia and a delay in cell cycle re-entry (26880200, 21394081).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "1.7604723E7", "complex_components": ["MCRS1", "NDE1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000072864", "synonym": "FLJ20101, NDE, NUDE", "ortholog_mouse": "Nde1", "ortholog_c_elegans": "nud-2", "ortholog_xenopus": "nde1", "ortholog_zebrafish": "nde1", "ortholog_drosophila": "nudE", "screens": {} }, { "gene": "NDNF", "ensembl_id": "ENSG00000173376", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuron derived neurotrophic factor [Source:HGNC Symbol,Acc:HGNC:26256]", "omim_id": "616506", "functional_summary": "Mutations in the NDNF gene cause Kallmann syndrome (PMID: 36454653).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "36454653 ,36454653", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173376", "synonym": "C4ORF31, FLJ23191", "ciliopathy": "Kallmann syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ndnf", "ortholog_c_elegans": "ndnf-1", "ortholog_xenopus": "ndnf", "ortholog_zebrafish": "ndnf", "ortholog_drosophila": "nord", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0814, "sd_percent_ciliated": -0.0814, "z_score": -0.0814, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NDRG1", "ensembl_id": "ENSG00000104419", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "N-myc downstream regulated 1 [Source:HGNC Symbol,Acc:HGNC:7679]", "omim_id": "605262", "functional_summary": "NDRG1 localized to flagella (25613900)", "localization": "flagella, Centrosome, Cytosol, Nucleus", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF03096", "domain_descriptions": ["NDRG", "Alpha/Beta hydrolase fold"], "string_link": "https://string-db.org/network/9606/ENSG00000104419", "synonym": "CAP43, DRG1, NDR1, RTP, TDD5", "ortholog_mouse": "Drg1, Ndrg1", "ortholog_c_elegans": "T28D6.6, Y48G10A.3, ZK1073.1", "ortholog_xenopus": "drg1, ndrg1", "ortholog_zebrafish": "drg1, ndrg1a, ndrg1b", "ortholog_drosophila": "128up, CG2082, MESK2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.8782, "sd_percent_ciliated": 12.9988, "z_score": 0.2264, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.68, "sd_percent_ciliated": 1.68, "z_score": 1.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0969, "sd_percent_ciliated": -0.0969, "z_score": -0.0969, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NDUFA11", "ensembl_id": "ENSG00000174886", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "NADH:ubiquinone oxidoreductase subunit A11 [Source:HGNC Symbol,Acc:HGNC:20371]", "omim_id": "612638", "functional_summary": "NDUFA11 has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": ["MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "mt-Nd2", "mt-Nd5", "Mtnd1", "Mtnd4", "Ndufa10", "Ndufa12", "Ndufa13", "Ndufa2", "Ndufa3", "Ndufa4", "Ndufa5", "Ndufa6", "Ndufa7", "Ndufa8", "Ndufa9", "Ndufab1", "Ndufb10", "Ndufb11", "Ndufb3", "Ndufb4", "Ndufb5", "Ndufb6", "Ndufb7", "Ndufb8", "Ndufb9", "Ndufc2", "Ndufs1", "Ndufs2", "Ndufs3", "Ndufs4", "Ndufs5", "Ndufs6", "Ndufs7", "Ndufs8", "Ndufv1", "Ndufv2", "Ndufv3", "mt-Nd3", "Ndufa1", "Ndufa11", "Ndufb2", "MT-ND4", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8B", "CYC1", "MT-CO1", "MT-CO2", "MT-CO3", "MT-CYB", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000174886", "synonym": "B14.7", "ortholog_mouse": "Ndufa11", "ortholog_xenopus": "ndufa11", "ortholog_zebrafish": "ndufa11", "ortholog_drosophila": "ND-B14.7", "screens": {} }, { "gene": "NDUFA6", "ensembl_id": "ENSG00000281013", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NADH:ubiquinone oxidoreductase subunit A6 [Source:HGNC Symbol,Acc:HGNC:7690]", "omim_id": "602138", "functional_summary": "NDUFA6 has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": ["MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "mt-Nd2", "mt-Nd5", "Mtnd1", "Mtnd4", "Ndufa10", "Ndufa12", "Ndufa13", "Ndufa2", "Ndufa3", "Ndufa4", "Ndufa5", "Ndufa6", "Ndufa7", "Ndufa8", "Ndufa9", "Ndufab1", "Ndufb10", "Ndufb11", "Ndufb3", "Ndufb4", "Ndufb5", "Ndufb6", "Ndufb7", "Ndufb8", "Ndufb9", "Ndufc2", "Ndufs1", "Ndufs2", "Ndufs3", "Ndufs4", "Ndufs5", "Ndufs6", "Ndufs7", "Ndufs8", "Ndufv1", "Ndufv2", "Ndufv3", "mt-Nd3", "Ndufa1", "Ndufa11", "Ndufb2", "MT-ND4", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8B", "CYC1", "MT-CO1", "MT-CO2", "MT-CO3", "MT-CYB", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ", "NDUFAF1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281013", "synonym": "B14, CI-B14, LYRM6, NADHB14", "ortholog_mouse": "Ndufa6", "ortholog_c_elegans": "nuo-3", "ortholog_xenopus": "ndufa6", "ortholog_zebrafish": "ndufa6", "ortholog_drosophila": "ND-B14", "screens": {} }, { "gene": "NDUFA8", "ensembl_id": "ENSG00000119421", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NADH:ubiquinone oxidoreductase subunit A8 [Source:HGNC Symbol,Acc:HGNC:7692]", "omim_id": "603359", "functional_summary": "NDUFA8 has localized in flagella.", "localization": "flagella, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": ["MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "mt-Nd2", "mt-Nd5", "Mtnd1", "Mtnd4", "Ndufa10", "Ndufa12", "Ndufa13", "Ndufa2", "Ndufa3", "Ndufa4", "Ndufa5", "Ndufa6", "Ndufa7", "Ndufa8", "Ndufa9", "Ndufab1", "Ndufb10", "Ndufb11", "Ndufb3", "Ndufb4", "Ndufb5", "Ndufb6", "Ndufb7", "Ndufb8", "Ndufb9", "Ndufc2", "Ndufs1", "Ndufs2", "Ndufs3", "Ndufs4", "Ndufs5", "Ndufs6", "Ndufs7", "Ndufs8", "Ndufv1", "Ndufv2", "Ndufv3", "mt-Nd3", "Ndufa1", "Ndufa11", "Ndufb2", "MT-ND4", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8B", "CYC1", "MT-CO1", "MT-CO2", "MT-CO3", "MT-CYB", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ"], "pfam_ids": "PF06747", "domain_descriptions": ["CHCH", "NADH dehydrogenase [ubiquinone] (complex I)", "alpha subcomplex", "subunit 8"], "string_link": "https://string-db.org/network/9606/ENSG00000119421", "synonym": "MGC793, PGIV", "ortholog_mouse": "Ndufa8", "ortholog_c_elegans": "ndua-8", "ortholog_xenopus": "ndufa8", "ortholog_zebrafish": "ndufa8", "ortholog_drosophila": "ND-19", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.3062, "sd_percent_ciliated": 1.1992, "z_score": -0.2063 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.05, "sd_percent_ciliated": 1.05, "z_score": 1.05 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6573, "sd_percent_ciliated": -1.6573, "z_score": -1.6573 } ] }, { "gene": "NDUFAF2", "ensembl_id": "ENSG00000164182", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "NADH:ubiquinone oxidoreductase complex assembly factor 2 [Source:HGNC Symbol,Acc:HGNC:28086]", "omim_id": "609653", "functional_summary": "We discovered that loss of NDUFAF2 caused both mitochondrial and ciliary defects in vitro and in vivo and identified NDUFAF2 as a binding partner for ARMC9 (38949024).", "localization": "basal body, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8949024E7", "complex_components": {}, "pfam_ids": "PF05071", "domain_descriptions": ["NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12", "Complex I NDUFA12 subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000164182", "synonym": "B17.2L, MIMITIN, MMTN, NDUFA12L", "ortholog_mouse": "Ndufaf2", "ortholog_c_elegans": "Y116A8C.30", "ortholog_xenopus": "ndufaf2", "ortholog_zebrafish": "ndufaf2", "ortholog_drosophila": "CG43346", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.417, "sd_percent_ciliated": 0.417, "z_score": 0.417, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.4964, "sd_percent_ciliated": 3.4964, "z_score": 3.4964, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NDUFB11", "ensembl_id": "ENSG00000147123", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "NADH:ubiquinone oxidoreductase subunit B11 [Source:HGNC Symbol,Acc:HGNC:20372]", "omim_id": "300403", "functional_summary": "NDUFB11 has localized in flagella.", "localization": "flagella, Mitochondria, Lysosomes", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": ["MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "mt-Nd2", "mt-Nd5", "Mtnd1", "Mtnd4", "Ndufa10", "Ndufa12", "Ndufa13", "Ndufa2", "Ndufa3", "Ndufa4", "Ndufa5", "Ndufa6", "Ndufa7", "Ndufa8", "Ndufa9", "Ndufab1", "Ndufb10", "Ndufb11", "Ndufb3", "Ndufb4", "Ndufb5", "Ndufb6", "Ndufb7", "Ndufb8", "Ndufb9", "Ndufc2", "Ndufs1", "Ndufs2", "Ndufs3", "Ndufs4", "Ndufs5", "Ndufs6", "Ndufs7", "Ndufs8", "Ndufv1", "Ndufv2", "Ndufv3", "mt-Nd3", "Ndufa1", "Ndufa11", "Ndufb2", "MT-ND4", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8B", "CYC1", "MT-CO1", "MT-CO2", "MT-CO3", "MT-CYB", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ"], "pfam_ids": "PF10183", "domain_descriptions": ["NADH:ubiquinone oxidoreductase", "ESSS subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000147123", "synonym": "ESSS, NP15, NP17.3", "ortholog_mouse": "Ndufb11, Ndufb11b", "ortholog_c_elegans": "ndub-11", "ortholog_zebrafish": "ndufb11", "ortholog_drosophila": "NP15.6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.3412, "sd_percent_ciliated": 15.1634, "z_score": -0.5656 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0861, "sd_percent_ciliated": 0.0861, "z_score": 0.0861 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8943, "sd_percent_ciliated": -2.8943, "z_score": -2.8943 } ] }, { "gene": "NDUFB4", "ensembl_id": "ENSG00000065518", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NADH:ubiquinone oxidoreductase subunit B4 [Source:HGNC Symbol,Acc:HGNC:7699]", "omim_id": "603840", "functional_summary": "NDUFB4 has localized in flagella.", "localization": "flagella, Nucleus, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": ["MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "mt-Nd2", "mt-Nd5", "Mtnd1", "Mtnd4", "Ndufa10", "Ndufa12", "Ndufa13", "Ndufa2", "Ndufa3", "Ndufa4", "Ndufa5", "Ndufa6", "Ndufa7", "Ndufa8", "Ndufa9", "Ndufab1", "Ndufb10", "Ndufb11", "Ndufb3", "Ndufb4", "Ndufb5", "Ndufb6", "Ndufb7", "Ndufb8", "Ndufb9", "Ndufc2", "Ndufs1", "Ndufs2", "Ndufs3", "Ndufs4", "Ndufs5", "Ndufs6", "Ndufs7", "Ndufs8", "Ndufv1", "Ndufv2", "Ndufv3", "mt-Nd3", "Ndufa1", "Ndufa11", "Ndufb2", "MT-ND4", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8B", "CYC1", "MT-CO1", "MT-CO2", "MT-CO3", "MT-CYB", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ"], "pfam_ids": "PF07225", "domain_descriptions": ["NADH:ubiquinone oxidoreductase", "subunit NDUFB4"], "string_link": "https://string-db.org/network/9606/ENSG00000065518", "synonym": "B15", "ortholog_mouse": "Ndufb4, Ndufb4b", "ortholog_c_elegans": "nuo-6", "ortholog_xenopus": "ndufb4", "ortholog_zebrafish": "ndufb4", "ortholog_drosophila": "ND-B15", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.6964, "sd_percent_ciliated": 7.8582, "z_score": -0.6437 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.66, "sd_percent_ciliated": 2.66, "z_score": 2.66 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.6159, "sd_percent_ciliated": -6.6159, "z_score": -6.6159 } ] }, { "gene": "NDUFS2", "ensembl_id": "ENSG00000158864", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "NADH:ubiquinone oxidoreductase core subunit S2 [Source:HGNC Symbol,Acc:HGNC:7708]", "omim_id": "602985", "functional_summary": "NDUFS2 has localized in flagella.", "localization": "flagella, Nucleus, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": ["MT-ND1", "MT-ND2", "MT-ND3", "MT-ND4L", "MT-ND5", "MT-ND6", "NDUFA1", "NDUFA10", "NDUFA11", "NDUFA12", "NDUFA13", "NDUFA2", "NDUFA3", "NDUFA4", "NDUFA5", "NDUFA6", "NDUFA7", "NDUFA8", "NDUFA9", "NDUFAB1", "NDUFB1", "NDUFB10", "NDUFB11", "NDUFB2", "NDUFB3", "NDUFB4", "NDUFB5", "NDUFB6", "NDUFB7", "NDUFB8", "NDUFB9", "NDUFC1", "NDUFC2", "NDUFS1", "NDUFS2", "NDUFS3", "NDUFS4", "NDUFS5", "NDUFS6", "NDUFS7", "NDUFS8", "NDUFV1", "NDUFV2", "NDUFV3", "mt-Nd2", "mt-Nd5", "Mtnd1", "Mtnd4", "Ndufa10", "Ndufa12", "Ndufa13", "Ndufa2", "Ndufa3", "Ndufa4", "Ndufa5", "Ndufa6", "Ndufa7", "Ndufa8", "Ndufa9", "Ndufab1", "Ndufb10", "Ndufb11", "Ndufb3", "Ndufb4", "Ndufb5", "Ndufb6", "Ndufb7", "Ndufb8", "Ndufb9", "Ndufc2", "Ndufs1", "Ndufs2", "Ndufs3", "Ndufs4", "Ndufs5", "Ndufs6", "Ndufs7", "Ndufs8", "Ndufv1", "Ndufv2", "Ndufv3", "mt-Nd3", "Ndufa1", "Ndufa11", "Ndufb2", "MT-ND4", "COX4I1", "COX5A", "COX5B", "COX6A1", "COX6B1", "COX6C", "COX7A2", "COX7B", "COX7C", "COX8B", "CYC1", "MT-CO1", "MT-CO2", "MT-CO3", "MT-CYB", "UQCR10", "UQCR11", "UQCRB", "UQCRC1", "UQCRC2", "UQCRFS1", "UQCRH", "UQCRQ"], "pfam_ids": "PF00346", "domain_descriptions": ["NADH-quinone oxidoreductase", "subunit D", "NADH:ubiquinone oxidoreductase", "49kDa subunit", "conserved site", "NAD(P)H-quinone oxidoreductase subunit D/H", "[NiFe]-hydrogenase", "large subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000158864", "synonym": "CI-49", "ortholog_mouse": "Ndufs2", "ortholog_c_elegans": "gas-1, nduf-2.2", "ortholog_xenopus": "ndufs2", "ortholog_zebrafish": "ndufs2", "ortholog_drosophila": "ND-49, ND-49L", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.7505, "sd_percent_ciliated": 6.8137, "z_score": -0.8794 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.8, "sd_percent_ciliated": 1.8, "z_score": 1.8 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.6706, "sd_percent_ciliated": -10.6706, "z_score": -10.6706 } ] }, { "gene": "NECAB1", "ensembl_id": "ENSG00000123119", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "N-terminal EF-hand calcium binding protein 1 [Source:HGNC Symbol,Acc:HGNC:20983]", "functional_summary": "NECAB1 has localized in ciliary tip, primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF03992", "domain_descriptions": ["EF-hand domain", "Antibiotic biosynthesis monooxygenase domain", "Dimeric alpha-beta barrel", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "N-terminal EF-hand calcium binding protein 1/2/3"], "string_link": "https://string-db.org/network/9606/ENSG00000123119", "synonym": "EFCBP1", "ortholog_mouse": "Necab1", "ortholog_xenopus": "necab1", "ortholog_zebrafish": "necab1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0616, "sd_percent_ciliated": 0.0616, "z_score": 0.0616, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.4711, "sd_percent_ciliated": 2.4711, "z_score": 2.4711, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NEDD1", "ensembl_id": "ENSG00000139350", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "NEDD1 gamma-tubulin ring complex targeting factor [Source:HGNC Symbol,Acc:HGNC:7723]", "omim_id": "600372", "functional_summary": "Pk3 is required for 纬-tubulin and Nedd1 recruitment to the basal body, indicating a new function in basal body organization. This function of Pk3 may involve Wilms tumor protein 1-interacting protein (Wtip), which physically associates with and cooperates with Pk3 to regulate ciliogenesis.", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "2.7062996E7", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "NEDD1 Spindle Assembly Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000139350", "synonym": "GCP-WD, TUBGCP7", "ortholog_mouse": "Nedd1", "ortholog_xenopus": "nedd1", "ortholog_zebrafish": "nedd1", "ortholog_drosophila": "Grip71", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.0274, "sd_percent_ciliated": 4.4471, "z_score": -0.2401 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.03, "sd_percent_ciliated": 1.03, "z_score": 1.03 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3843, "sd_percent_ciliated": -0.3843, "z_score": -0.3843 } ] }, { "gene": "NEDD4", "ensembl_id": "ENSG00000069869", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NEDD4 E3 ubiquitin protein ligase [Source:HGNC Symbol,Acc:HGNC:7727]", "omim_id": "602278", "functional_summary": "Dlg3 Trafficking and Apical Tight Junction Formation Is Regulated by Nedd4 and Nedd4-2 E3 Ubiquitin Ligases ( 21920314).", "localization": "Ciliary associated gene, Cytosol, Endosome, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1920314E7", "complex_components": ["AP3B1", "ARHGEF1", "ARHGEF2", "CAPZA1", "CAPZB", "CLTC", "DNM2", "DOCK7", "FKBP15", "NEDD4", "PI4K2A", "WASHC2A", "WASHC4", "WASHC5", "SLC22A6"], "pfam_ids": ["PF00632", "PF00397", "PF00168"], "domain_descriptions": ["HECT domain", "WW domain", "C2 domain superfamily", "HECT", "E3 ligase catalytic domain", "WW domain superfamily", "E3 ubiquitin-protein ligase", "C2 domain", "E3 ubiquitin-protein ligase", "SMURF1 type"], "string_link": "https://string-db.org/network/9606/ENSG00000069869", "synonym": "KIAA0093, MGC176705, NEDD4-1, RPF1", "ortholog_mouse": "Nedd4, Rpf1", "ortholog_c_elegans": "F44G4.1, Y92H12A.2", "ortholog_xenopus": "nedd4, rpf1", "ortholog_zebrafish": "nedd4a, rpf1", "ortholog_drosophila": "CG6712, Nedd4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 49.3374, "sd_percent_ciliated": 7.2505, "z_score": 1.3725, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.58, "sd_percent_ciliated": 2.58, "z_score": 2.58, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9543, "sd_percent_ciliated": -0.9543, "z_score": -0.9543, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NEDD9", "ensembl_id": "ENSG00000111859", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Reduced", "description": "neural precursor cell expressed, developmentally down-regulated 9 [Source:HGNC Symbol,Acc:HGNC:7733]", "omim_id": "602265", "functional_summary": "Transducer of integrin attachment, migration, and anti-apoptotic sig ls at focal adhesions. Promotes activation and stabilisation of AurA, which phosphorylates ciliary HDAC6 to induce disassembly of the primary cilium. (17604723).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "23255108, 1838736, 28017521", "complex_components": ["ANAPC10", "CDH1", "NEDD9", "SMAD3", "PIK3CA"], "pfam_ids": ["PF14604", "PF08824", "PF12026", "PF00018"], "domain_descriptions": ["SH3 domain", "Serine rich protein interaction domain", "CAS family", "C-terminal", "Enhancer of filamentation 1", "SH3 domain", "SH3-like domain superfamily", "CAS family", "CAS", "serine rich four helix bundle domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111859", "synonym": "CAS-L, CASS2, HEF1", "ortholog_mouse": "Nedd9", "ortholog_xenopus": "nedd9", "ortholog_zebrafish": "nedd9", "ortholog_drosophila": "p130CAS", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.846, "sd_percent_ciliated": 4.3486, "z_score": 0.9495 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.87, "sd_percent_ciliated": 1.87, "z_score": 1.87 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.5845, "sd_percent_ciliated": 1.5845, "z_score": 1.5845 } ] }, { "gene": "NEFH", "ensembl_id": "ENSG00000100285", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neurofilament heavy chain [Source:HGNC Symbol,Acc:HGNC:7737]", "omim_id": "162230", "functional_summary": "NEFH has localized in ciliary tip,basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00038", "PF07142"], "domain_descriptions": ["Repeat of Not Reported function DUF1388", "Intermediate filament protein", "conserved site", "Intermediate filament", "rod domain"], "string_link": "https://string-db.org/network/9606/ENSG00000100285", "synonym": "NF-H, NFH", "ortholog_mouse": "Nefh", "ortholog_c_elegans": "F35A5.1", "ortholog_xenopus": "nefh", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 5.7433, "z_score": 1.329, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 59.3002, "z_score": 2.5795, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.3611 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.106, "z_score": 0.106, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.106 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0957, "z_score": -2.0957, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.0957 } ] }, { "gene": "NEK1", "ensembl_id": "ENSG00000137601", "overexpression_effects": "Inhibits ciliogenesis", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced", "description": "NIMA related kinase 1 [Source:HGNC Symbol,Acc:HGNC:7744]", "omim_id": "604588", "functional_summary": "Role in centrosome integrity, affecting both ciliogenesis and centrosome stability, it may suppress cilia by phosphorylating VHL. NEK1 overexpression leads to cilia resorption in cultured cells. Mutations lead to defective cilia (23255108). NEK1 binds to the microtubule鈥", "localization": "basal body,cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "31959991, 29581457, 32414360, 33064774, 28123176, 25492405 ,25492405; 28123176", "complex_components": ["CFAP410", "NEK1", "SPATA7"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "NEK Ser/Thr protein kinase family", "NIMA subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137601", "synonym": "KIAA1901, NY-REN-55", "ciliopathy": "Short-rib Thoracic Dysplasia; Spondylometaphyseal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nek1", "ortholog_xenopus": "nek1", "ortholog_zebrafish": "nek1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.5998, "sd_percent_ciliated": 7.4478, "z_score": 0.0715 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 22.2, "sd_percent_ciliated": 22.2, "z_score": 22.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5843, "sd_percent_ciliated": -3.5843, "z_score": -3.5843 } ] }, { "gene": "NEK10", "ensembl_id": "ENSG00000163491", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "NIMA related kinase 10 [Source:HGNC Symbol,Acc:HGNC:18592]", "omim_id": "618726", "functional_summary": "NEK10 is a ciliated-cell specific ki se that regulates the motile ciliary proteome to promote ciliary length, and its deficiency produces short motile cilia . Required for effective airway mucociliary clearance (31959991). NEK1 localisation is mediated by its interaction with PCM1 (29581457).Mutations are associated with primary ciliary dyskinesia (32414360). Mutation of NEKL-4/NEK10 and TTLL genes suppress neuro l ciliary degeneration caused by loss of CCPP-1 deglutamylase function (33064774)", "localization": "basal body, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "26493400,26290419, 22613497, 32211891, 31959991 ,31959991", "complex_components": ["MAP2K1", "NEK10", "RAF1"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Armadillo-like helical", "Armadillo-type fold", "Protein kinase", "ATP binding site", "Serine/threonine-protein kinase Nek10", "catalytic domain", "NEK Serine/Threonine Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000163491", "synonym": "FLJ32685", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nek10", "ortholog_c_elegans": "nekl-4", "ortholog_xenopus": "nek10", "ortholog_zebrafish": "nek10", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "NEK2", "ensembl_id": "ENSG00000117650", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers; Unknown", "description": "NIMA related kinase 2 [Source:HGNC Symbol,Acc:HGNC:7745]; NIMA related kinase 2 [Source:HGNC Symbol;Acc:HGNC:7745]", "omim_id": "604043", "functional_summary": "Phosphorylates the centrosomal linker proteins C- p1, Cep68 and Rootletin to promote centriole separation, and is involved in the development of left-right asymmetry by regulating balancing ciliogenesis and resorption (26493400). Phosphorylates Kif24, a depolymerising kinesin (26290419). Influences centrosome-anchored organisation and promotes cilium disassembly at the onset of mitosis (22613497). NEK2 removes distal appendage components from the mother centriole, preventing cilia mainte nce during mitosis (32211891).; Furthermore, siRNA-mediated depletion of Nek2 in hTERT-RPE1 cells has been reported to reduce cilium formation (Graser et al., 2007, Mikule et al., 2007). These findings raise the possibility that Nek2 has a ciliary function. In addition, we report that siRNA-mediated depletion of Nek2 compromises the ability of cells to resorb primary cilia before the onset of mitosis, while overexpression of catalytically active Nek2A reduces ciliation and cilium length in serum-starved cells. Based on these findings, we propose that Nek2 has a role in promoting cilium disassembly at the onset of mitosis. We also present evidence that recruitment of Nek2 to the proximal ends of centrioles is dependent on one of its substrates, the centrosome cohesion protein C-Nap1. Consistent with our previous studies, we observed a dramatic increase in ciliation in cycling RPE1 cells depleted of Kif24, as compared with controls (Fig. 3a and Supplementary Fig. 4A). In addition, we found that depletion of Nek2 mimicked silencing of Kif24 (Fig. 3a and Supplementary Fig. 4A). However, co-silencing of Nek2 and Kif24 did not further increase the frequency of ciliation as compared with individual siRNA treatments, suggesting that they could work in a coordinated manner. Further, we stably expressed each protein (alone or together) in RPE1 cells and provoked quiescence through serum starvation. Since endogenous levels of Nek2 and Kif24 are negligible after serum starvation (Supplementary Fig. 3C), this allowed us to test the impact of altering the levels of each protein while limiting the expression of its partner (Fig. 3b). We found that ciliation was significantly diminished on expression of Nek2 or Kif24, and this effect was considerably more pronounced in cells co-expressing both proteins (Fig. 3b). The effect of Nek2 was dependent on its kinase activity, since expression of an inactive form of Nek2 (KD Nek2) overrode the effect of Kif24 expression (compare Fig. 4e,f and Supplementary Fig. 5D,E). Of note, cellular quiescence was not impaired in cells expressing Kif24 and/or Nek2, suggesting that reduced ciliation after ectopic expression did not result from cell cycle perturbations (Supplementary Fig. 4B). We next tested the impact of depleting Nek2 or Kif24 in cells ectopically expressing its partner. (26290419)", "localization": "basal body,cilia, Centrosome, Cytosol, Microtubules, Nucleus; mother centriole", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "33230144, 24043777; 17954613, 17330329, 26290419", "complex_components": ["NEK11", "NEK2", "SAV1", "STK3"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "NEK Ser/Thr protein kinase family", "NIMA subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000117650", "synonym": "NEK2A, NLK1, PPP1R111, RP67", "ortholog_mouse": "Nek2", "ortholog_xenopus": "nek2", "ortholog_zebrafish": "nek2", "ortholog_drosophila": "Nek2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.5941, "sd_percent_ciliated": 1.8366, "z_score": 1.0401 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6336, "sd_percent_ciliated": -0.6336, "z_score": -0.6336 } ] }, { "gene": "NEK3", "ensembl_id": "ENSG00000136098", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NIMA related kinase 3 [Source:HGNC Symbol,Acc:HGNC:7746]", "omim_id": "604044", "functional_summary": "Biallelic loss of function NEK3 mutations were found in 2 families with abnormal cardiac left-right patterning. NEK3 depeletion was associated with deacetylation of 伪-tubulin and downregulation of NUP205, NUP188, and NUP155 and defective ciliary ultrastructure (33230144)", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development", "reference": "21685204 ,25613900", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Serine-threonine/tyrosine-protein kinase", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000136098", "synonym": "HSPK36, MGC29949", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nek3", "ortholog_c_elegans": "nekl-2", "ortholog_xenopus": "nek3", "ortholog_zebrafish": "nek3", "ortholog_drosophila": "png", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.242, "sd_percent_ciliated": 8.8081, "z_score": 0.7551, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.27, "sd_percent_ciliated": 4.27, "z_score": 4.27, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0134, "sd_percent_ciliated": -1.0134, "z_score": -1.0134, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NEK4", "ensembl_id": "ENSG00000114904", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "NIMA related kinase 4 [Source:HGNC Symbol,Acc:HGNC:11399]", "omim_id": "601959", "functional_summary": "Interacts with RPGRIP1 and RPGRIP1L to regulate cilium integrity and/or assembly. It associates with ciliary rootlets to regulate cilia stability", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "20169535, 18235101, 22106379, 23274954", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "NEK Ser/Thr protein kinase family", "NIMA subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000114904", "synonym": "NRK2, PP12301, STK2", "ortholog_mouse": "Nek4", "ortholog_xenopus": "nek4", "ortholog_zebrafish": "nek4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 22.0168, "sd_percent_ciliated": 6.1504, "z_score": -1.9376, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.77, "sd_percent_ciliated": 1.77, "z_score": 1.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0627, "sd_percent_ciliated": -4.0627, "z_score": -4.0627, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NEK5", "ensembl_id": "ENSG00000197168", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NIMA related kinase 5 [Source:HGNC Symbol,Acc:HGNC:7748]", "omim_id": "616731", "functional_summary": "Nek5 is required for the loss of centrosome linker proteins and enhanced microtubule nucleation that lead to timely centrosome separation and bipolar spindle formation in mitosis (25963817).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.5963817E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "NEK Ser/Thr protein kinase family", "NIMA subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000197168", "ortholog_mouse": "Nek5", "ortholog_xenopus": "nek5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.642, "sd_percent_ciliated": 13.4116, "z_score": 0.4401 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.289, "sd_percent_ciliated": 0.289, "z_score": 0.289 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.847, "sd_percent_ciliated": -4.847, "z_score": -4.847 } ] }, { "gene": "NEK7", "ensembl_id": "ENSG00000151414", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Reduced", "description": "NIMA related kinase 7 [Source:HGNC Symbol,Acc:HGNC:13386]", "omim_id": "606848", "functional_summary": "Nek7 deficiency does not affect centrosome duplication but leads to disturbed frequency of primary cilia ( 20473324).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.0473324E7", "complex_components": ["CASP1", "NEK7", "NLRP3", "PYCARD"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000151414", "ortholog_mouse": "Nek7", "ortholog_c_elegans": "nekl-3", "ortholog_xenopus": "nek7", "ortholog_zebrafish": "nek7", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.7666, "sd_percent_ciliated": 3.9861, "z_score": -0.2717 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.78, "sd_percent_ciliated": 3.78, "z_score": 3.78 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3193, "sd_percent_ciliated": -2.3193, "z_score": -2.3193 } ] }, { "gene": "NEK8", "ensembl_id": "ENSG00000160602", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "NIMA related kinase 8 [Source:HGNC Symbol,Acc:HGNC:13387]", "omim_id": "609799", "functional_summary": "Mutations cause nephronophthisis (NPHP9), it can be transported into cilia by Inv (20169535). Controls or modulates the ciliary localization of PC1 and PC2, as well as ciliary length (18235101). It is speculated that Nek8 activity may be required to initiate ciliogenesis, and degradation may be required to prevent it (22106379). Component of the PC2 channel complex required to mediate nodal calcium flux, indispensable for the establishment of left-right asymmetry (23274954).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "28385950, 22441691, 23418306, 18199800, 37598857 ,37598857; 18199800; 23418306", "complex_components": ["ANKS6", "INVS", "NEK8", "NPHP3", "WWTR1"], "pfam_ids": ["PF00069", "PF00415"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Serine/threonine-protein kinase NEK", "Regulator of chromosome condensation", "RCC1", "Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II", "Protein kinase", "ATP binding site", "Nek8", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000160602", "synonym": "NPHP9", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease; Nephronophthisis; Renal-hepatic-pancreatic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nek8", "ortholog_c_elegans": "nekl-1", "ortholog_xenopus": "nek8", "ortholog_zebrafish": "nek8", "ortholog_drosophila": "niki", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.2982, "sd_percent_ciliated": 1.5483, "z_score": -0.5708, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.03, "sd_percent_ciliated": 5.03, "z_score": 5.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9112, "sd_percent_ciliated": -2.9112, "z_score": -2.9112, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NEK9", "ensembl_id": "ENSG00000119638", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced", "description": "NIMA related kinase 9 [Source:HGNC Symbol,Acc:HGNC:18591]", "omim_id": "609798", "functional_summary": "NEK9 interacts with MYH9 (also known as myosin IIA), which has been implicated in inhibiting ciliogenesis through stabilization of the actin network. MYH9 accumulates in NEK9 LIR mutant cells and mice, and depletion of MYH9 restores ciliogenesis in NEK9 LIR mutant cells ( 34078910).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "34078910 ,34078910", "complex_components": ["NEK9", "SSRP1", "SUPT16H", "TUBB4B"], "pfam_ids": ["PF00069", "PF13540", "PF00415"], "domain_descriptions": ["Regulator of chromosome condensation", "RCC1", "Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II", "Protein kinase-like domain superfamily", "Serine/threonine-protein kinase Nek9", "catalytic domain", "Serine/threonine-protein kinase NEK"], "string_link": "https://string-db.org/network/9606/ENSG00000119638", "synonym": "DKFZP434D0935, MGC16714, NEK8, NERCC, NERCC1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nek8, Nek9", "ortholog_c_elegans": "nekl-1", "ortholog_xenopus": "nek8, nek9", "ortholog_zebrafish": "nek8", "ortholog_drosophila": "niki", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.9163, "sd_percent_ciliated": 8.324, "z_score": 1.3215 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.21, "sd_percent_ciliated": 0.21, "z_score": 0.21 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.856, "sd_percent_ciliated": -2.856, "z_score": -2.856 } ] }, { "gene": "NEURL4", "ensembl_id": "ENSG00000288301", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "neuralized E3 ubiquitin protein ligase 4 [Source:HGNC Symbol,Acc:HGNC:34410]", "omim_id": "615865", "functional_summary": "Controls CP110 levels at mother centriole. It transiently traslocates to mother centriole to remove CP110 and facilitate proximily between both centrioles and and promote axoneme formation (28385950). Promotes ubiquitylation of CP110 to maintain centrosome homeostasis and prevent the formation of ectopic microtubular organizing centres (22441691).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "27020754, 32053600, 31554934", "complex_components": ["HERC2", "MAPK6", "NEURL4", "UBE3A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000288301", "synonym": "KIAA1787", "ortholog_mouse": "Neurl4", "ortholog_xenopus": "neurl4", "ortholog_zebrafish": "neurl4", "ortholog_drosophila": "Neurl4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.71, "sd_percent_ciliated": 2.71, "z_score": 2.71, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7178, "sd_percent_ciliated": -0.7178, "z_score": -0.7178, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NF1", "ensembl_id": "ENSG00000196712", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neurofibromin 1 [Source:HGNC Symbol,Acc:HGNC:7765]", "omim_id": "613113", "functional_summary": "Neurofibromin, the product of the Neurofibromatosis-1 gene (NF1), a major Ras GTPase activating protein (RasGAP) in neural cells, controls also the critical function of chromosome congression in astrocytic cellular contexts. NLS-neurofibromin knockdown led to increased density of cytosolic MTs but loss of MT intersections, a stral spindles featuring large hollows and abnormal chromosome positioning, and fi lly abnormal chromosome segregation and increased micronuclei frequency. Differential neurofibromin isoform colocalization with γ-tubulin on mitotic centrosomes( 33114250).", "localization": "Ciliary associated gene, Microtubules, Nucleus, Ribosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "3.311425E7", "complex_components": ["AR", "NF1", "MC1R", "HTR6"], "pfam_ids": ["PF00616", "PF21877", "PF13716"], "domain_descriptions": ["CRAL-TRIO lipid binding domain", "Ras GTPase-activating domain", "Rho GTPase activation protein", "PH-like domain superfamily", "Armadillo-type fold", "Ras GTPase-activating protein", "conserved site", "CRAL-TRIO lipid binding domain superfamily", "Ras GTPase-activating protein", "Neurofibromin", "PH domain-like"], "string_link": "https://string-db.org/network/9606/ENSG00000196712", "ortholog_mouse": "Nf1", "ortholog_xenopus": "nf1", "ortholog_zebrafish": "nf1a, nf1b", "ortholog_drosophila": "Nf1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.0888, "z_score": 0.5001, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 53.1519, "z_score": 1.8346, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.074 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 42.6, "z_score": 42.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 42.6 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0399, "z_score": -3.0399, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.0399 } ] }, { "gene": "NFAT5", "ensembl_id": "ENSG00000102908", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "nuclear factor of activated T cells 5 [Source:HGNC Symbol,Acc:HGNC:7774]", "omim_id": "604708", "functional_summary": "TonEBP controlled the expression and activity of aurora ki se A, TonEBP overexpression inhibited the loss of CP110 from the mother centrioles during the early stages of primary cilia assembly, and TonEBP regulated the localization of PCM1 and AZI1 (38961488).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "38961488, 16043481", "complex_components": ["NFAT5", "WWTR1"], "pfam_ids": ["PF16179", "PF00554"], "domain_descriptions": ["IPT domain", "Nuclear factor of activated T cells (NFAT)", "p53-like transcription factor", "DNA-binding domain superfamily", "Rel homology domain", "DNA-binding domain", "Immunoglobulin-like fold", "Immunoglobulin E-set", "Nuclear factor of activated T-cells 5", "Rel homology domain", "DNA-binding domain", "Rel homology dimerisation domain", "Rel homology domain (RHD)", "DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000102908", "synonym": "KIAA0827, NF-AT5, NFATL1, NFATZ, OREBP, TONEBP", "ortholog_mouse": "Nfat5", "ortholog_xenopus": "nfat5", "ortholog_zebrafish": "nfat5a, nfat5b", "ortholog_drosophila": "NFAT", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.8134, "sd_percent_ciliated": 3.9788, "z_score": -0.7507 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.06, "sd_percent_ciliated": 5.06, "z_score": 5.06 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.375, "sd_percent_ciliated": -3.375, "z_score": -3.375 } ] }, { "gene": "NFE2L2", "ensembl_id": "ENSG00000116044", "overexpression_effects": "Decreased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "NFE2 like bZIP transcription factor 2 [Source:HGNC Symbol,Acc:HGNC:7782]", "omim_id": "600492", "functional_summary": "Also called NRF2. Primary Cilium-Autophagy-Nrf2 (PAN) Axis Activation Commits Human Embryonic Stem Cells to a Neuroectoderm Fate (27020754). Negative regulator of primary ciliogenesis (via p62) and the Hh sig ling pathway (through PTCH1), which blocks ciliary traslocation of BBS4 and SMO (32053600). Contradictory paper says that it promotes ciliogenesis (31554934)", "localization": "basal body,cilia, Centrosome, Cytosol, Nucleus, Ribosome", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cell migration & adhesion, Cardiac & muscle development, Transcription regulation", "reference": "22995307, 20875398", "complex_components": ["KEAP1", "NFE2L2", "PGAM5"], "pfam_ids": "PF03131", "domain_descriptions": ["Basic leucine zipper domain", "Maf-type", "Basic-leucine zipper domain", "Transcription factor", "Skn-1-like", "DNA-binding domain superfamily", "Basic-leucine zipper domain superfamily", "Nuclear Factor Erythroid-derived 2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000116044", "synonym": "NRF-2, NRF2", "ortholog_mouse": "Nfe2l2", "ortholog_c_elegans": "skn-1, sknr-1", "ortholog_xenopus": "nfe2l2", "ortholog_zebrafish": "nfe2l2a, nfe2l2b", "ortholog_drosophila": "cnc", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.8354, "z_score": -1.6618, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 17.615, "z_score": -2.4709, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.6807 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.5, "z_score": 1.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.5 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.5359, "z_score": -4.5359, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.5359 } ] }, { "gene": "NGFR", "ensembl_id": "ENSG00000064300", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nerve growth factor receptor [Source:HGNC Symbol,Acc:HGNC:7809]", "omim_id": "162010", "functional_summary": "Likely to provide sig ls to drive granule cell progenitor proliferation (22995307). It may be involved in neurogenesis and memory- encoding functions in dentate gyral granule cells (20875398).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation", "reference": "1.578468E7", "complex_components": ["LINGO1", "NGFR", "RTN4R", "SORT1", "NGF", "NTF3", "PDE4A", "PDE4B", "PDE4C", "PDE4D"], "pfam_ids": ["PF18422", "PF00531", "PF00020"], "domain_descriptions": ["Death domain", "TNFR/NGFR cysteine-rich region", "Death-like domain superfamily", "Tumour necrosis factor receptor 16", "Tumor necrosis factor receptor 16", "N-terminal", "Tumor necrosis factor receptor member 16", "transmembrane domain", "Neurotrophin receptor-related death domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000064300", "synonym": "CD271, P75NTR, TNFRSF16", "ortholog_mouse": "Ngfr", "ortholog_xenopus": "ngfr", "ortholog_zebrafish": "ngfra, ngfrb", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.19, "z_score": -1.4603, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 24.6697, "z_score": -1.6162, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.0768 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.35, "z_score": 2.35, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.35 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6606, "z_score": -4.6606, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.6606 } ] }, { "gene": "NHERF1", "ensembl_id": "ENSG00000109062", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "NHERF family PDZ scaffold protein 1 [Source:HGNC Symbol,Acc:HGNC:11075]", "omim_id": "604990", "functional_summary": "Also known as EBP50 or NHERF1. Regulates Wnt and PCP sig ling PCP sig ling and the development of functio l motile cilia via binding the pla r cell polarity genes Frizzled (Fzd) and Vangl. Knockdown in zebrafish embryos causes severe hydrocephalus. Ablation causes reduced number and altered orientation of the cilia but does not change the structural organization of the cilium (27055101).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25959824, 23746451 ,27055101", "complex_components": ["CFTR", "EZR", "NHERF1", "ADRB2", "CXCR2", "PLCB3", "ACTN4", "EGFR", "PTEN", "PRKCZ", "SLC34A1", "ARRB2", "PTH1R", "PDZK1", "MSN", "PAG1", "RDX", "PLCB1"], "pfam_ids": ["PF09007", "PF00595"], "domain_descriptions": ["PDZ domain", "EBP50", "C-terminal", "Na(+)/H(+) exchange regulatory cofactor NHERF-1/2", "PDZ superfamily", "Na+/H+ exchange regulatory cofactor"], "string_link": "https://string-db.org/network/9606/ENSG00000109062", "synonym": "EBP50, NHE-RF, NHERF, NHERF-1, SLC9A3R1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nherf1", "ortholog_c_elegans": "nrfl-1", "ortholog_xenopus": "nherf1", "ortholog_zebrafish": "nherf1a, nherf1b", "ortholog_drosophila": "CG10939", "screens": {} }, { "gene": "NIM1K", "ensembl_id": "ENSG00000177453", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NIM1 serine/threonine protein kinase [Source:HGNC Symbol,Acc:HGNC:28646]", "functional_summary": "NIM1K and UBL3 localize inside the cilium in a prenylation-dependent manner (36672247).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.6672247E7", "complex_components": ["NIM1K", "PDE6D"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Serine/threonine kinase NIM1", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000177453", "synonym": "MGC42105, NIM1", "ortholog_mouse": "Nim1k", "ortholog_c_elegans": "nimk-1", "ortholog_xenopus": "nim1k", "ortholog_zebrafish": "nim1ka, nim1kb", "ortholog_drosophila": "CG4629", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.91, "sd_percent_ciliated": 1.91, "z_score": 1.91, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "NIN", "ensembl_id": "ENSG00000100503", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ninein [Source:HGNC Symbol,Acc:HGNC:14906]", "omim_id": "608684", "functional_summary": "Also called ninein. Interacts with gamma-tubulin-containing complexes. It plays roles in promoting microtubule- nucleation and -anchoring processes at the centrosome (15784680).", "localization": "basal body, Centrosome, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "18826961, 26485514 ,27818179", "complex_components": ["AUNIP", "AURKA", "NIN", "CEP128", "CEP170", "CNTRL", "DCTN1", "KIF2A", "ODF2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000100503", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nin", "ortholog_c_elegans": "noca-2", "ortholog_xenopus": "nin", "ortholog_zebrafish": "nin", "ortholog_drosophila": "Nin", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.5401, "z_score": 0.6411, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.1114, "z_score": 1.1028, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.8981 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.93, "z_score": 1.93, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.93 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.6036, "z_score": 1.6036, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 1.6036 } ] }, { "gene": "NINL", "ensembl_id": "ENSG00000101004", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ninein like [Source:HGNC Symbol,Acc:HGNC:29163]", "omim_id": "609580", "functional_summary": "Also called NLP. It is involved in microtubule nucleation, anchoring and outgrowth (18826961). NLP interacts with ciliopathy- associated proteins lebercilin, USH2A and CC2D2A. Interacts with DZANK1 in vesicle transport towards the photoreceptor outer segments and its development/mainte nce, in photoreceptor cells (26485514).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0111592E7", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000101004", "synonym": "KIAA0980, NLP", "ortholog_mouse": "Ninl", "ortholog_c_elegans": "noca-2", "ortholog_xenopus": "ninl", "ortholog_zebrafish": "ninl", "ortholog_drosophila": "Nin", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3501, "sd_percent_ciliated": -1.3501, "z_score": -1.3501, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NIPBL", "ensembl_id": "ENSG00000164190", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NIPBL cohesin loading factor [Source:HGNC Symbol,Acc:HGNC:28862]", "omim_id": "608667", "functional_summary": "Mutations in the NIPBL gene cause Cornelia de Lange Syndrome (PMID: 15146185, PMID:15146186).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Transcription regulation", "reference": "15146185, 15146186 ,15146185, 15146186", "complex_components": ["MAU2", "NIPBL", "RAD21", "SMC1A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000164190", "synonym": "DKFZP434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, SCC2", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nipbl", "ortholog_c_elegans": "scc-2", "ortholog_xenopus": "nipbl", "ortholog_zebrafish": "nipbla, nipblb", "ortholog_drosophila": "Nipped-B", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.9516, "sd_percent_ciliated": 5.1253, "z_score": -1.0974 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 22.5, "sd_percent_ciliated": 22.5, "z_score": 22.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.615, "sd_percent_ciliated": -9.615, "z_score": -9.615 } ] }, { "gene": "NKX2-5", "ensembl_id": "ENSG00000183072", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NK2 homeobox 5 [Source:HGNC Symbol,Acc:HGNC:2488]", "omim_id": "600584", "functional_summary": "The variant in EFCAB7 may disrupt embryonic heart development by influencing downstream target genes (Myh6, Zfpm1, and Nkx2-5) mediated through the Shh/Gli pathway( 39894222).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "3.9894222E7", "complex_components": {}, "pfam_ids": "PF00046", "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Homeobox", "conserved site", "Homeodomain", "metazoa", "Homeobox NK-like transcription regulators"], "string_link": "https://string-db.org/network/9606/ENSG00000183072", "synonym": "CSX, CSX1, NKX2.5, NKX2E, NKX4-1", "ortholog_mouse": "Nkx2-5", "ortholog_c_elegans": "ceh-28", "ortholog_xenopus": "nkx2-5", "ortholog_zebrafish": "nkx2.5", "screens": {} }, { "gene": "NME3", "ensembl_id": "ENSG00000103024", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NME/NM23 nucleoside diphosphate kinase 3 [Source:HGNC Symbol,Acc:HGNC:7851]", "omim_id": "601817", "functional_summary": "Facilitates D -repair mechanisms. Binds to several NPHPs, including NEK8, CEP164, and ankyrin repeat and sterile 伪 motif domain- containing 6 (ANKS6). Required for determining left- right assymetry and ciliogenesis. Potential nephronophthisis disease gene (30111592 ).", "localization": "cilia, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "21746835, 24424412, 32185794", "complex_components": {}, "pfam_ids": "PF00334", "domain_descriptions": ["Nucleoside diphosphate kinase", "Nucleoside diphosphate kinase", "active site", "Nucleoside diphosphate kinase-like domain", "Nucleoside diphosphate kinase-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000103024", "synonym": "DR-NM23, NDPKC, NM23-H3", "ortholog_mouse": "Nme3", "ortholog_c_elegans": "ndk-1", "ortholog_xenopus": "nme3", "ortholog_zebrafish": "nme3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.4033, "sd_percent_ciliated": 8.1906, "z_score": -0.3157 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.24, "sd_percent_ciliated": 1.24, "z_score": 1.24 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.6491, "sd_percent_ciliated": -3.6491, "z_score": -3.6491 } ] }, { "gene": "NME5", "ensembl_id": "ENSG00000112981", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NME/NM23 family member 5 [Source:HGNC Symbol,Acc:HGNC:7853]", "omim_id": "603575", "functional_summary": "Hydrocephalus and infertility due to dysfunctio l motile cilia in KO mouse (21746835). Role in ciliary beating (24424412). Mutations cause of human PCD (32185794).", "localization": "basal body ,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "21289087, 27060491, 24807905, 32185794, 31479451 ,32185794, 31479451; 32185794", "complex_components": {}, "pfam_ids": ["PF00334", "PF05186"], "domain_descriptions": ["Nucleoside diphosphate kinase", "Dpy-30 motif", "Nucleoside-diphosphate kinase-like NDK-H5", "Nucleoside diphosphate kinase-like domain", "Nucleoside diphosphate kinase-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000112981", "synonym": "NM23-H5, RSPH23", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nme5", "ortholog_c_elegans": "R05G6.5", "ortholog_xenopus": "nme5", "ortholog_zebrafish": "nme5", "ortholog_drosophila": "CG15547", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.3141, "sd_percent_ciliated": 0.9449, "z_score": -0.0842, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7677, "sd_percent_ciliated": -4.7677, "z_score": -4.7677, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NME7", "ensembl_id": "ENSG00000143156", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Reduced", "description": "NME/NM23 family member 7 [Source:HGNC Symbol,Acc:HGNC:20461]", "omim_id": "613465", "functional_summary": "It may regulate vesicular transport from the Golgi to the plasma membrane, its depletion inhibites Hh- stimulated accumulation of SMO in cilia (21289087). Plays a role in human laterality patterning (27060491). NME7 is a gamma-tubulin ring complex component that regulates microtubule-nucleating activity in centrosomes. It is also required for ciliary sig ling and protein trafficking to primary cilia (24807905).", "localization": "flagella, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "17360648, 19410201, 33916973 ,33916973", "complex_components": {}, "pfam_ids": "PF00334", "domain_descriptions": ["Nucleoside diphosphate kinase", "DM10 domain", "Nucleoside diphosphate kinase 7", "Nucleoside diphosphate kinase-like domain", "NDPK7", "first NDPk domain", "Nucleoside diphosphate kinase-like domain superfamily", "NDPK7", "second NDPk domain"], "string_link": "https://string-db.org/network/9606/ENSG00000143156", "synonym": "CFAP67, FLJ37194, NM23-H7", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nme7", "ortholog_xenopus": "nme7", "ortholog_zebrafish": "nme7", "ortholog_drosophila": "nmdyn-D7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.1235, "sd_percent_ciliated": 9.0577, "z_score": 0.6196, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.212, "sd_percent_ciliated": 0.212, "z_score": 0.212, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8332, "sd_percent_ciliated": -2.8332, "z_score": -2.8332, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NME8", "ensembl_id": "ENSG00000086288", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NME/NM23 family member 8 [Source:HGNC Symbol,Acc:HGNC:16473]", "omim_id": "607421", "functional_summary": "Also called TXNDC3, Candidate gene for PCD. Encodes a thioredoxine- nucleoside diphosphate ki se expressed in testis and respiratory epithelial cells. It is shown to have binding properties to ( 17360648). Human ortholog of the sea urchin IC1 gene that encodes a component of sperm outer dynein arms ( 19410201).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "24226769, 17360648 ,17360648", "complex_components": {}, "pfam_ids": ["PF00334", "PF00085"], "domain_descriptions": ["Thioredoxin domain", "Thioredoxin", "conserved site", "Nucleoside diphosphate kinase-like domain", "Thioredoxin-like superfamily", "Nucleoside diphosphate kinase-like domain superfamily", "Thioredoxin domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000086288", "synonym": "CILD6, DNAI8, NM23-H8, SPTRX2, TXNDC3", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nme8", "ortholog_xenopus": "dnaaf8", "ortholog_zebrafish": "nme9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "NMNAT1", "ensembl_id": "ENSG00000173614", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nicotinamide nucleotide adenylyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:17877]", "omim_id": "608700", "functional_summary": "NM T1 plays an important role in photoreceptors and is likely involved in both reti l development and mainte nce of photoreceptor integrity (29674119).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29674119 ,22842230", "complex_components": ["NMNAT1", "RRP8", "SIRT1"], "pfam_ids": "PF01467", "domain_descriptions": ["Cytidyltransferase-like domain", "Rossmann-like alpha/beta/alpha sandwich fold", "Eukaryotic NMN adenylyltransferase", "Nicotinate/nicotinamide nucleotide adenylyltransferase", "Nicotinamide/nicotinate mononucleotide adenylyltransferase", "eukaryotic"], "string_link": "https://string-db.org/network/9606/ENSG00000173614", "synonym": "LCA9, NMNAT, PNAT1", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nmnat1", "ortholog_c_elegans": "nmat-1, nmat-2", "ortholog_zebrafish": "nmnat1", "ortholog_drosophila": "Nmnat", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5888, "sd_percent_ciliated": 3.5059, "z_score": 0.3125 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.49, "sd_percent_ciliated": 1.49, "z_score": 1.49 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2552, "sd_percent_ciliated": 0.2552, "z_score": 0.2552 } ] }, { "gene": "NMUR1", "ensembl_id": "ENSG00000171596", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuromedin U receptor 1 [Source:HGNC Symbol,Acc:HGNC:4518]", "omim_id": "604153", "functional_summary": "Several GPCRs whose ligands are involved in feeding behavior, including prolactin-releasing hormone receptor (PRLHR), neuropeptide FF receptor 1 (NPFFR1), and neuromedin U receptor 1 (NMUR1), localized to the primary cilia(26053317).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.6053317E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Neuromedin U receptor", "Neuromedin U receptor", "type 1", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000171596", "synonym": "FM-3, GPC-R, GPR66, NMU1R", "ortholog_mouse": "Nmur1", "ortholog_c_elegans": "nmur-2", "ortholog_xenopus": "nmur1", "ortholog_zebrafish": "nmur1a, nmur1b", "ortholog_drosophila": "CapaR, PK1-R, PK2-R1, PK2-R2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.5169, "sd_percent_ciliated": 4.1576, "z_score": 0.9096, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0706, "sd_percent_ciliated": 0.0706, "z_score": 0.0706, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.2506, "sd_percent_ciliated": -5.2506, "z_score": -5.2506, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NODAL", "ensembl_id": "ENSG00000156574", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nodal growth differentiation factor [Source:HGNC Symbol,Acc:HGNC:7865]", "omim_id": "601265", "functional_summary": "Mutations in the NODAL gene cause Visceral Heterotaxy (PMID: 19064609).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.9064609E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156574", "ortholog_mouse": "Nodal", "ortholog_c_elegans": "dbl-1", "ortholog_xenopus": "LOC100490072, LOC101734231, LOC116409495, nodal, nodal1, nodal2, nodal3.2, nodal3.4, nodal5, nodal6", "ortholog_zebrafish": "ndr1, ndr2, spaw", "ortholog_drosophila": "mav", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.4224, "sd_percent_ciliated": 4.9997, "z_score": 0.1712 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.342, "sd_percent_ciliated": 0.342, "z_score": 0.342 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.924, "sd_percent_ciliated": -3.924, "z_score": -3.924 } ] }, { "gene": "NOP56", "ensembl_id": "ENSG00000101361", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NOP56 ribonucleoprotein [Source:HGNC Symbol,Acc:HGNC:15911]", "omim_id": "614154", "functional_summary": "Mutations in the NOP56 gene cause Spinocerebellar Ataxia (PMID: 21683323).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "2.1683323E7", "complex_components": ["ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37A", "RPL39", "RPL4", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS2", "RPS23", "RPS24", "RPS29", "RPS3A", "RPS6", "RPS7", "RPS8", "RPS9", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101361", "synonym": "NOL5A, SCA36", "ortholog_mouse": "Nop56", "ortholog_c_elegans": "nol-56", "ortholog_xenopus": "nop56", "ortholog_zebrafish": "nop56", "ortholog_drosophila": "Nop56", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.52, "sd_percent_ciliated": 6.52, "z_score": 6.52, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0468, "sd_percent_ciliated": -5.0468, "z_score": -5.0468, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NOS1", "ensembl_id": "ENSG00000089250", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "nitric oxide synthase 1 [Source:HGNC Symbol,Acc:HGNC:7872]", "omim_id": "163731", "functional_summary": "Neuro l NOS(nNOS, NOS1) consistently localised to the ciliary compartment of ciliated ALI-cultured epithelial cells (n = 5 subjects) (Fig. 2b) and co-localised with the cilia marker 尾-tubulin [26], in the proximal part of the ciliary axoneme but not towards the distal portion(25460324).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.5460324E7", "complex_components": ["HSPA1A", "NOS1", "STUB1"], "pfam_ids": ["PF02898", "PF00175", "PF00258", "PF00595", "PF00667"], "domain_descriptions": ["Flavodoxin-like", "Oxidoreductase FAD/NAD(P)-binding", "PDZ domain", "Flavoprotein pyridine nucleotide cytochrome reductase", "Sulfite reductase [NADPH] flavoprotein alpha-component-like", "FAD-binding", "Nitric oxide synthase", "N-terminal", "Flavodoxin/nitric oxide synthase", "Nitric-oxide synthase", "eukaryote", "FAD-binding domain", "ferredoxin reductase-type", "Riboflavin synthase-like beta-barrel", "NADPH-cytochrome p450 reductase", "FAD-binding", "alpha-helical domain superfamily", "Flavoprotein-like superfamily", "PDZ superfamily", "Nitric oxide synthase", "N-terminal domain superfamily", "Ferredoxin-NADP reductase (FNR)", "nucleotide-binding domain", "Nitric oxide synthase", "domain 2 superfamily", "Nitric oxide synthase", "domain 1 superfamily", "Nitric oxide synthase", "domain 3 superfamily", "Nitric Oxide Synthase (NOS)"], "string_link": "https://string-db.org/network/9606/ENSG00000089250", "synonym": "NNOS, NOS", "ortholog_mouse": "Nos1", "ortholog_xenopus": "nos1", "ortholog_zebrafish": "nos1", "ortholog_drosophila": "Nos", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.0019, "sd_percent_ciliated": 4.3552, "z_score": 0.1203 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.15, "sd_percent_ciliated": 3.15, "z_score": 3.15 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4191, "sd_percent_ciliated": -0.4191, "z_score": -0.4191 } ] }, { "gene": "NOS2", "ensembl_id": "ENSG00000007171", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nitric oxide synthase 2 [Source:HGNC Symbol,Acc:HGNC:7873]", "omim_id": "163730", "functional_summary": "The inducible NOS (iNOS, NOS2) showed some punctate immunostaining near to the base of the cilia(25460324).", "localization": "basal body, Cytosol, Microbody, Nucleus, Peroxisome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions", "reference": "2.5460324E7", "complex_components": ["NOS2", "S100A8", "S100A9"], "pfam_ids": ["PF02898", "PF00175", "PF00258", "PF00667"], "domain_descriptions": ["Flavodoxin-like", "Oxidoreductase FAD/NAD(P)-binding", "Flavoprotein pyridine nucleotide cytochrome reductase", "Sulfite reductase [NADPH] flavoprotein alpha-component-like", "FAD-binding", "Nitric oxide synthase", "N-terminal", "Flavodoxin/nitric oxide synthase", "Nitric-oxide synthase", "eukaryote", "FAD-binding domain", "ferredoxin reductase-type", "Riboflavin synthase-like beta-barrel", "NADPH-cytochrome p450 reductase", "FAD-binding", "alpha-helical domain superfamily", "Flavoprotein-like superfamily", "Nitric oxide synthase", "N-terminal domain superfamily", "Ferredoxin-NADP reductase (FNR)", "nucleotide-binding domain", "Nitric oxide synthase", "domain 2 superfamily", "Nitric oxide synthase", "domain 1 superfamily", "Nitric oxide synthase", "domain 3 superfamily", "Nitric Oxide Synthase (NOS)"], "string_link": "https://string-db.org/network/9606/ENSG00000007171", "synonym": "HEP-NOS, INOS, NOS, NOS2A", "ortholog_mouse": "Nos2", "ortholog_xenopus": "nos2", "ortholog_zebrafish": "nos2a, nos2b", "ortholog_drosophila": "Nos", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3744, "sd_percent_ciliated": -1.3744, "z_score": -1.3744, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NOS3", "ensembl_id": "ENSG00000164867", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nitric oxide synthase 3 [Source:HGNC Symbol,Acc:HGNC:7876]", "omim_id": "163729", "functional_summary": "endothelial NOS (eNOS, NOS3)) eNOS reportedly localises to the basal body of cilia to modulate CBF sig lling via cGMP-PKG and cAMP-PKA(20110742, 25460324).", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "20110742 , 25460324", "complex_components": ["CAV1", "NOS3", "NOSTRIN", "DAG1", "SGCE", "UTRN", "HSP90AB1", "AKT1", "CSF2RB", "PRKAB2", "PRKAG1", "PRKAG3"], "pfam_ids": ["PF00667", "PF00175", "PF02898", "PF00258"], "domain_descriptions": ["Flavodoxin-like", "Oxidoreductase FAD/NAD(P)-binding", "Flavoprotein pyridine nucleotide cytochrome reductase", "Sulfite reductase [NADPH] flavoprotein alpha-component-like", "FAD-binding", "Nitric oxide synthase", "N-terminal", "Flavodoxin/nitric oxide synthase", "Nitric-oxide synthase", "eukaryote", "FAD-binding domain", "ferredoxin reductase-type", "Riboflavin synthase-like beta-barrel", "NADPH-cytochrome p450 reductase", "FAD-binding", "alpha-helical domain superfamily", "Flavoprotein-like superfamily", "Nitric oxide synthase", "N-terminal domain superfamily", "Ferredoxin-NADP reductase (FNR)", "nucleotide-binding domain", "Nitric oxide synthase", "domain 2 superfamily", "Nitric oxide synthase", "domain 1 superfamily", "Nitric oxide synthase", "domain 3 superfamily", "Nitric Oxide Synthase (NOS)"], "string_link": "https://string-db.org/network/9606/ENSG00000164867", "synonym": "ECNOS, ENOS", "ortholog_mouse": "Nos3", "ortholog_xenopus": "nos3", "ortholog_drosophila": "Nos", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.9842, "sd_percent_ciliated": 1.0489, "z_score": -0.4877 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.19, "sd_percent_ciliated": 1.19, "z_score": 1.19 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -12.996, "sd_percent_ciliated": -12.996, "z_score": -12.996 } ] }, { "gene": "NOTCH1", "ensembl_id": "ENSG00000148400", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "notch receptor 1 [Source:HGNC Symbol,Acc:HGNC:7881]", "omim_id": "190198", "functional_summary": "It is glycosylated by GALNT11 to establish an essential balance between motile and immotile cilia at the left-right organiser, controlling laterality (24226769).", "localization": "basal body, cilia, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, ECM & connective tissue, Transcription regulation", "reference": "17884984, 22357932", "complex_components": ["Maml2", "NOTCH1", "Rbpj", "CCNT1", "CDK7", "CDK8", "CDK9", "EP300", "INPP5K", "MAML1", "MED1", "POLR2A", "RBPJ", "SUPT16H", "SUPT6H", "LCK", "PIK3R1", "YY1", "MAML3", "SBNO1"], "pfam_ids": ["PF00008", "PF12796", "PF00023", "PF06816", "PF07645", "PF00066", "PF12661", "PF07684", "PF25024"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "EGF-like domain", "Notch domain", "EGF-like calcium-binding domain", "Ankyrin repeat", "Notch", "Growth factor receptor cysteine-rich domain superfamily", "Notch", "NOD domain", "Notch", "NODP domain", "EGF-like", "conserved site", "EGF-like calcium-binding", "conserved site", "Neurogenic locus notch homolog protein 1", "Notch", "C-terminal", "Notch-like domain superfamily", "Ankyrin repeat-containing domain superfamily", "NOTCH1 EGF-like calcium-binding domain", "Notch and Slit guidance protein", "Notch Signaling and Cell Fate Determination"], "string_link": "https://string-db.org/network/9606/ENSG00000148400", "synonym": "TAN1", "ortholog_mouse": "Notch1", "ortholog_c_elegans": "glp-1, lin-12", "ortholog_xenopus": "notch1", "ortholog_zebrafish": "notch1a, notch1b", "ortholog_drosophila": "N", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.5676, "sd_percent_ciliated": 11.8834, "z_score": 0.6734, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5161, "sd_percent_ciliated": 0.5161, "z_score": 0.5161, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NOTCH3", "ensembl_id": "ENSG00000074181", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "notch receptor 3 [Source:HGNC Symbol,Acc:HGNC:7883]", "omim_id": "600276", "functional_summary": "In contrast to Presenilin-2, antibodies against full-length Notch3 were brightest along the length of primary cilia, suggesting that this receptor might be enriched in the ciliary membrane (21703454).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "2.1703454E7", "complex_components": {}, "pfam_ids": ["PF00008", "PF12661", "PF07684", "PF00066", "PF06816", "PF00023", "PF07645", "PF12796", "PF13857", "PF25024", "PF13637"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "EGF-like domain", "Notch domain", "EGF-like calcium-binding domain", "Ankyrin repeat", "Notch", "Growth factor receptor cysteine-rich domain superfamily", "Notch", "NOD domain", "Notch", "NODP domain", "EGF-like", "conserved site", "EGF-like calcium-binding", "conserved site", "Neurogenic locus Notch 3", "Notch", "C-terminal", "Notch-like domain superfamily", "Ankyrin repeat-containing domain superfamily", "NOTCH1 EGF-like calcium-binding domain", "Notch and Slit guidance protein"], "string_link": "https://string-db.org/network/9606/ENSG00000074181", "synonym": "CADASIL, CASIL", "ortholog_mouse": "Notch3", "ortholog_c_elegans": "lin-12", "ortholog_xenopus": "notch3", "ortholog_zebrafish": "notch3", "ortholog_drosophila": "N", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.3663, "sd_percent_ciliated": 6.7196, "z_score": -0.926, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.684, "sd_percent_ciliated": -0.684, "z_score": -0.684, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NOTO", "ensembl_id": "ENSG00000214513", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Not Reported", "description": "notochord homeobox [Source:HGNC Symbol,Acc:HGNC:31839]", "omim_id": "620695", "functional_summary": "Essential for ciliogenesis in the posterior notochord, and the establishment of left鈥搑ight asymmetry (17884984). Transcription factor regulating expression of cilia genes through Foxj1 and Rfx3. Mutants have disorganised or incomplete axonemal (22357932).", "localization": "transition zone, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone, Transcription regulation", "reference": "15138899, 22982934 ,17884984", "complex_components": {}, "pfam_ids": "PF00046", "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "EMX/VAX/Noto Homeobox Transcription Factors"], "string_link": "https://string-db.org/network/9606/ENSG00000214513", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Noto", "ortholog_c_elegans": "ceh-100, ceh-99", "ortholog_xenopus": "not", "ortholog_zebrafish": "noto", "ortholog_drosophila": "CG18599", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0099, "sd_percent_ciliated": 0.0099, "z_score": 0.0099, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1205, "sd_percent_ciliated": -0.1205, "z_score": -0.1205, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NPFFR1", "ensembl_id": "ENSG00000148734", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuropeptide FF receptor 1 [Source:HGNC Symbol,Acc:HGNC:17425]", "omim_id": "607448", "functional_summary": "Several GPCRs whose ligands are involved in feeding behavior, including prolactin-releasing hormone receptor (PRLHR), neuropeptide FF receptor 1 (NPFFR1), and neuromedin U receptor 1 (NMUR1), localized to the primary cilia(26053317).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6053317E7", "complex_components": ["KISS1R", "NPFFR1", "DRD1", "DRD5"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Neuropeptide FF receptor family", "Neuropeptide FF receptor", "type 1", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000148734", "synonym": "GPR147, NPFF1R1, OT7T022", "ortholog_mouse": "Npffr1", "ortholog_xenopus": "npffr1", "ortholog_zebrafish": "npffr1, npffr1l1, npffr1l2, npffr1l3", "ortholog_drosophila": "SIFaR", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0087, "sd_percent_ciliated": 0.0087, "z_score": 0.0087, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "NPHP1", "ensembl_id": "ENSG00000144061", "overexpression_effects": "Shorter", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Increased", "description": "nephrocystin 1 [Source:HGNC Symbol,Acc:HGNC:7905]", "omim_id": "607100", "functional_summary": "Involved in centrosome and cilia function. Causative gene in the majority of familial cases of nephronophthisis and recently associated with Joubert syndrome (15138899, 22982934).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "22328406, 20169535, 29395339, 15138899, 9856524, 9326933, 23559409 ,15138899; 9326933, 23559409; 9856524", "complex_components": ["BCAR1", "NPHP1", "NPHP4", "Anks3", "PKD1", "AHI1"], "pfam_ids": "PF00018", "domain_descriptions": ["SH3 domain", "Nephrocystin-1", "SH3 domain", "SH3-like domain superfamily", "Nephrocystin-1"], "string_link": "https://string-db.org/network/9606/ENSG00000144061", "synonym": "JBTS4, NPH1, SLSN1", "ciliopathy": "Joubert Syndrome; Nephronophthisis; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nphp1", "ortholog_c_elegans": "nphp-1", "ortholog_xenopus": "nphp1", "ortholog_zebrafish": "nphp1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.5713, "sd_percent_ciliated": 0.1566, "z_score": -1.0223 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.37, "sd_percent_ciliated": 1.37, "z_score": 1.37 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.4365, "sd_percent_ciliated": 0.4365, "z_score": 0.4365 } ] }, { "gene": "NPHP3", "ensembl_id": "ENSG00000113971", "overexpression_effects": "No effect", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Knockdown: Reduced, Overexpression: Increased", "description": "nephrocystin 3 [Source:HGNC Symbol,Acc:HGNC:7907]", "omim_id": "608002", "functional_summary": "Mutations cause nephronophthisis type 3 (22328406). Interaction with Inversin is essential for NPHP3 localisation (20169535). Cooperates with Inversin and promotes ANKS6 phosphorylation by NEK8 in re l cilia. It may be involved in the regulation of noncanonical Wnt-pathway (29395339).", "localization": "basal body, transition zone, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Transition zone", "reference": "25150219, 15661758, 12872122, 19303681, 22819833, 18371931, 18371931, 20007846 ,18371931; 12872122, 19303681; 18371931, 20007846; 22819833", "complex_components": ["ANKS6", "INVS", "NEK8", "NPHP3"], "pfam_ids": ["PF13176", "PF24885", "PF24883", "PF24884", "PF25022", "PF13424"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "P-loop containing nucleoside triphosphate hydrolase", "Nephrocystin 3", "helical domain", "Nephrocystin 3-like", "N-terminal", "Nephrocystin-3", "TPR-repeats region", "Nephrocystin-3", "alpha-beta domain"], "string_link": "https://string-db.org/network/9606/ENSG00000113971", "synonym": "CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, NPH3, SLSN3", "ciliopathy": "Meckel–Gruber Syndrome; Nephronophthisis; Renal-hepatic-pancreatic Dysplasia; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nphp3", "ortholog_xenopus": "nphp3", "ortholog_zebrafish": "nphp3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.3285, "sd_percent_ciliated": 16.8351, "z_score": 0.4022, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.66, "sd_percent_ciliated": 6.66, "z_score": 6.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.824, "sd_percent_ciliated": -0.824, "z_score": -0.824, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NPHP4", "ensembl_id": "ENSG00000131697", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "nephrocystin 4 [Source:HGNC Symbol,Acc:HGNC:19104]", "omim_id": "607215", "functional_summary": "Involved in familial juvenile nephronophthisis and retinitis pigmentosa. Component of the transition zone barrier that controls the movement of proteins between the flagellar and cytoplasmic compartments. Potentially interacts with MKS/B9 proteins to prevent ciliary membrane proteins from diffusing out of the cilium (25150219). Probably involved in actin and microtubule organisation in cell鈥揷ell and cell鈥搈atrix adhesion sig ling (15661758).", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "24316073, 11920287 ,11920287", "complex_components": ["JADE1", "NPHP4", "BCAR1", "NPHP1", "LATS1", "DVL2", "INVS", "RPGRIP1L", "DAAM1", "INTU"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000131697", "synonym": "KIAA0673, POC10, SLSN4", "ciliopathy": "Nephronophthisis; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nphp4", "ortholog_c_elegans": "nphp-4", "ortholog_xenopus": "nphp4, nphp4.2", "ortholog_zebrafish": "nphp4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.1073, "sd_percent_ciliated": 2.8239, "z_score": -0.7151, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3615, "sd_percent_ciliated": -5.3615, "z_score": -5.3615, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NPM2", "ensembl_id": "ENSG00000158806", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleophosmin/nucleoplasmin 2 [Source:HGNC Symbol,Acc:HGNC:7930]", "omim_id": "608073", "functional_summary": "Both ARL3T31A and ARL3T31A/C118F groups exhibited a reduction in cilium formation, therefore, the decrease in cilium formation in these groups may be associated with the downregulation of LIMS2 and NPM2 ( 38457249).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "3.8457249E7", "complex_components": {}, "pfam_ids": "PF03066", "domain_descriptions": ["Nucleoplasmin family", "Nucleoplasmin core domain", "Nucleoplasmin core domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000158806", "ortholog_mouse": "Npm2", "ortholog_xenopus": "npm2", "ortholog_zebrafish": "npm2a, npm2b", "ortholog_drosophila": "Nlp, Nph", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.0287, "sd_percent_ciliated": 1.441, "z_score": -0.4823, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.853, "sd_percent_ciliated": 0.853, "z_score": 0.853, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0802, "sd_percent_ciliated": -1.0802, "z_score": -1.0802, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NPY2R", "ensembl_id": "ENSG00000185149", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuropeptide Y receptor Y2 [Source:HGNC Symbol,Acc:HGNC:7957]", "omim_id": "162642", "functional_summary": "Encodes a G protein-coupled receptors involved in energy homeostasis, and could be a major driver of hyperphagia- induced obesity in BBS (24316073).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.4316073E7", "complex_components": ["MC3R", "NPY2R"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Neuropeptide Y receptor family", "Neuropeptide Y2 receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000185149", "ortholog_mouse": "Npy2r", "ortholog_c_elegans": "npr-6", "ortholog_xenopus": "npy2r", "ortholog_zebrafish": "npy2r, npy2rl", "ortholog_drosophila": "sNPF-R", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.3194, "sd_percent_ciliated": 0.9659, "z_score": -0.2047, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.67, "sd_percent_ciliated": 1.67, "z_score": 1.67, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6333, "sd_percent_ciliated": -2.6333, "z_score": -2.6333, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NPY5R", "ensembl_id": "ENSG00000164129", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuropeptide Y receptor Y5 [Source:HGNC Symbol,Acc:HGNC:7958]", "functional_summary": "Encodes a G protein-coupled receptors involved in energy homeostasis (24316073).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.9771182E7", "complex_components": ["NPY1R", "NPY5R"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Neuropeptide Y5 receptor", "Neuropeptide Y receptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000164129", "synonym": "NPYR5", "ortholog_mouse": "Npy5r", "ortholog_c_elegans": "npr-7, npr-8", "ortholog_xenopus": "npy5r", "ortholog_drosophila": "NPFR", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.5031, "sd_percent_ciliated": 5.5422, "z_score": 0.9079, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.27, "sd_percent_ciliated": 1.27, "z_score": 1.27, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1902, "sd_percent_ciliated": -2.1902, "z_score": -2.1902, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NR1H4", "ensembl_id": "ENSG00000012504", "overexpression_effects": "Reduced", "lof_effects": "Promoted ciliogenesis", "percent_ciliated_cells_effects": "Not Reported", "description": "nuclear receptor subfamily 1 group H member 4 [Source:HGNC Symbol,Acc:HGNC:7967]", "omim_id": "603826", "functional_summary": "Regulates autophagy by controlling transcription of genes involved in autophagic pathways. It negatively regulares ciliogenesis by inhibiting autophagy (29771182)..", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "2.6704451E7", "complex_components": ["NR1H4", "RXRA", "ESR1", "PPARGC1A", "GPS2", "NCOA1", "PRMT1", "RELA", "SETD7", "SREBF2", "MED1", "SAFB"], "pfam_ids": ["PF00104", "PF00105"], "domain_descriptions": ["Nuclear hormone receptor", "ligand-binding domain", "Zinc finger", "nuclear hormone receptor-type", "Nuclear hormone receptor", "Thyroid hormone receptor", "Zinc finger", "NHR/GATA-type", "Nuclear hormone receptor-like domain superfamily", "Bile acid receptor", "ligand binding domain", "Nuclear hormone receptor family NR1 subfamily", "Liver X receptor"], "string_link": "https://string-db.org/network/9606/ENSG00000012504", "synonym": "FXR, HRR-1, HRR1, RIP14", "ortholog_mouse": "Nr1h4", "ortholog_c_elegans": "nhr-166, nhr-221, nhr-253", "ortholog_xenopus": "nr1h4", "ortholog_zebrafish": "nr1h4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.1815, "sd_percent_ciliated": 0.6136, "z_score": 0.142 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.13, "sd_percent_ciliated": 9.13, "z_score": 9.13 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.28, "sd_percent_ciliated": -5.28, "z_score": -5.28 } ] }, { "gene": "NR2E3", "ensembl_id": "ENSG00000278570", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nuclear receptor subfamily 2 group E member 3 [Source:HGNC Symbol,Acc:HGNC:7974]", "omim_id": "604485", "functional_summary": "Mutations in the NR2E3 gene cause Retinitis Pigmentosa (PMID: 17564971, 18294254).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17564971, 18294254 ,17564971, 18294254", "complex_components": ["CRX", "NR1D1", "NR2E3", "NRL"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000278570", "synonym": "PNR, RD7, RP37", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nr2e3", "ortholog_c_elegans": "fax-1, nhr-111", "ortholog_xenopus": "nr2e3", "ortholog_zebrafish": "nr2e3", "ortholog_drosophila": "Hr51", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.7591, "sd_percent_ciliated": 4.852, "z_score": 1.5447 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.33, "sd_percent_ciliated": 3.33, "z_score": 3.33 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.2128, "sd_percent_ciliated": -5.2128, "z_score": -5.2128 } ] }, { "gene": "NRAS", "ensembl_id": "ENSG00000213281", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NRAS proto-oncogene, GTPase [Source:HGNC Symbol,Acc:HGNC:7989]", "omim_id": "164790", "functional_summary": "EZH2 inhibition for promoting ciliogenesis are observed in the mouse melanoma models driven by Nras or Braf, supporting a general effect of melanoma oncogenes on ciliation ( 29990499).", "localization": "Ciliary associated gene, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9990499E7", "complex_components": ["NRAS", "PPP1CC", "SHOC2"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "Small GTPase", "Ras-type", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000213281", "synonym": "N-RAS", "ortholog_mouse": "Nras", "ortholog_c_elegans": "let-60", "ortholog_xenopus": "nras", "ortholog_zebrafish": "nras", "ortholog_drosophila": "Ras85D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.22, "sd_percent_ciliated": 3.5726, "z_score": 1.2371 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.49, "sd_percent_ciliated": 3.49, "z_score": 3.49 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2347, "sd_percent_ciliated": -1.2347, "z_score": -1.2347 } ] }, { "gene": "NRCAM", "ensembl_id": "ENSG00000091129", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuronal cell adhesion molecule [Source:HGNC Symbol,Acc:HGNC:7994]", "omim_id": "601581", "functional_summary": "The cell adhesion molecule NRCAM, which is involved in cell-cell contacts and axon outgrowth in the peripheral- and central nervous system (22182708) localized at cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Axon guidance & growth", "reference": "2.2182708E7", "complex_components": {}, "pfam_ids": ["PF00041", "PF13927", "PF07679", "PF13882"], "domain_descriptions": ["Immunoglobulin/major histocompatibility complex", "conserved site", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Neurofascin/L1/NrCAM", "C-terminal domain", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Neural and epithelial cell adhesion domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000091129", "synonym": "BRAVO, KIAA0343", "ortholog_mouse": "Nrcam", "ortholog_c_elegans": "lad-2, sax-7", "ortholog_xenopus": "nrcam", "ortholog_zebrafish": "nrcama, nrcamb", "ortholog_drosophila": "Nrg", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.9152, "sd_percent_ciliated": 1.4979, "z_score": -0.6172, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.375, "sd_percent_ciliated": 0.375, "z_score": 0.375, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.9514, "sd_percent_ciliated": 2.9514, "z_score": 2.9514, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NRL", "ensembl_id": "ENSG00000285493", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neural retina leucine zipper [Source:HGNC Symbol,Acc:HGNC:8002]", "functional_summary": "Mutations in the NRL gene cause Retinitis Pigmentosa (PMID: 10192380).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "10192380 ,10192380", "complex_components": ["CRX", "NR1D1", "NR2E3", "NRL"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000285493", "synonym": "D14S46E, NRL-MAF, RP27", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nrl", "ortholog_c_elegans": "maf-1", "ortholog_xenopus": "nrl", "ortholog_zebrafish": "nrl", "ortholog_drosophila": "tj", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.8531, "sd_percent_ciliated": 7.3757, "z_score": -0.9882 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.45, "sd_percent_ciliated": 1.45, "z_score": 1.45 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.0991, "sd_percent_ciliated": -4.0991, "z_score": -4.0991 } ] }, { "gene": "NRP1", "ensembl_id": "ENSG00000099250", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuropilin 1 [Source:HGNC Symbol,Acc:HGNC:8004]", "omim_id": "602069", "functional_summary": "The Neuropilins (NRPs), a small family comprised of NRP1 and NRP2, have well-established roles in axon guidance and vascular patterning (25244320) and act to positively regulate HH sig ling at the cell surface (22051878). NRPs are expressed in a variety of HH-responsive tissues during critical periods of HH-related developmental patterning (16846494). NRPs are novel class of cell surface HH pathway regulators that act downstream of ligand binding through cytoplasmic effectors to control HH pathway function(28667171).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "25244320 , 22051878 , 16846494 , 28667171", "complex_components": ["ITGB1", "NRP1", "KDR", "VEGFA", "FARP2", "PLXNA1", "PLXNA2", "PLXNA3", "PLXNA4", "PLXND1", "SEMA3C", "PLXNB1", "SEMA6D", "VEGFC", "VEGFD", "SEMA3A", "RFTN1", "FLT1", "PGF"], "pfam_ids": ["PF11980", "PF00431", "PF00629", "PF00754"], "domain_descriptions": ["Coagulation factor 5/8", "C-terminal domain", "CUB domain", "MAM domain", "Galactose-binding-like domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "Neuropilin", "Neuropilin", "C-terminal", "Spermadhesin", "CUB domain superfamily", "Neuropilin/Multicopper Oxidase/Coagulation Factor"], "string_link": "https://string-db.org/network/9606/ENSG00000099250", "synonym": "CD304, NRP, VEGF165R", "ortholog_mouse": "Nrp1", "ortholog_xenopus": "nrp1", "ortholog_zebrafish": "nrp1a, nrp1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.9438, "sd_percent_ciliated": 6.3414, "z_score": 0.8402, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 37.5, "sd_percent_ciliated": 37.5, "z_score": 37.5, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4752, "sd_percent_ciliated": -1.4752, "z_score": -1.4752, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NRP2", "ensembl_id": "ENSG00000118257", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuropilin 2 [Source:HGNC Symbol,Acc:HGNC:8005]", "omim_id": "602070", "functional_summary": "NRP1 and NRP2 promote HH sig ling by modulating GLI activator function ( 28667171).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "2.8667171E7", "complex_components": ["NRP2", "PLXNA1", "VEGFA", "FLT1", "VEGFC", "VEGFD", "FLT4"], "pfam_ids": ["PF00431", "PF00754", "PF00629", "PF11980"], "domain_descriptions": ["Coagulation factor 5/8", "C-terminal domain", "CUB domain", "MAM domain", "Galactose-binding-like domain superfamily", "Concanavalin A-like lectin/glucanase domain superfamily", "Neuropilin", "Neuropilin", "C-terminal", "Spermadhesin", "CUB domain superfamily", "Neuropilin/Multicopper Oxidase/Coagulation Factor"], "string_link": "https://string-db.org/network/9606/ENSG00000118257", "synonym": "VEGF165R2", "ortholog_mouse": "Nrp2", "ortholog_xenopus": "nrp2", "ortholog_zebrafish": "nrp2a, nrp2b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.3098, "sd_percent_ciliated": 1.2792, "z_score": 1.1268, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0738, "sd_percent_ciliated": 0.0738, "z_score": 0.0738, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3239, "sd_percent_ciliated": -3.3239, "z_score": -3.3239, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NSD1", "ensembl_id": "ENSG00000165671", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nuclear receptor binding SET domain protein 1 [Source:HGNC Symbol,Acc:HGNC:14234]", "omim_id": "606681", "functional_summary": "In vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro(PMID: 40552535). A case with Sotos syndrome described due to a de novo pathogenic variant in the NSD1 gene presenting with polycystic kidneys and hepatic fibrosis.", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "40552535,10.1016/j.gimo.2024.101131", "complex_components": ["AR", "NSD1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000165671", "synonym": "ARA267, FLJ22263, KMT3B, STO", "ortholog_mouse": "Nsd1", "ortholog_c_elegans": "met-1", "ortholog_xenopus": "nsd1", "ortholog_zebrafish": "nsd1a, nsd1b", "ortholog_drosophila": "NSD", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.7011, "sd_percent_ciliated": 12.9935, "z_score": 0.6896, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.3, "sd_percent_ciliated": 4.3, "z_score": 4.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6756, "sd_percent_ciliated": -4.6756, "z_score": -4.6756, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NSL1", "ensembl_id": "ENSG00000117697", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "NSL1 component of MIS12 kinetochore complex [Source:HGNC Symbol;Acc:HGNC:24548]", "omim_id": "609174", "functional_summary": "Loss of NSL1 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000117697", "synonym": "C1ORF48; DC8; DKFZP566O1646; MIS14", "ortholog_mouse": "Nsl1", "ortholog_xenopus": "nsl1", "ortholog_zebrafish": "nsl1", "screens": [] }, { "gene": "NT5C1B", "ensembl_id": "ENSG00000185013", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "5'-nucleotidase, cytosolic IB [Source:HGNC Symbol,Acc:HGNC:17818]", "omim_id": "610526", "functional_summary": "NT5C1B has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF06189", "domain_descriptions": "5-nucleotidase", "string_link": "https://string-db.org/network/9606/ENSG00000185013", "synonym": "AIRP, CN-IB", "ortholog_mouse": "Nt5c1b", "ortholog_xenopus": "nt5c1a", "ortholog_zebrafish": "nt5c1ba, nt5c1bb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.972, "sd_percent_ciliated": 3.7472, "z_score": 0.7224, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.73, "sd_percent_ciliated": 2.73, "z_score": 2.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0704, "sd_percent_ciliated": -1.0704, "z_score": -1.0704, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NT5C1B-RDH14", "ensembl_id": "ENSG00000250741", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NT5C1B-RDH14 readthrough [Source:HGNC Symbol,Acc:HGNC:38831]", "functional_summary": "NT5C1B-RDH14 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF06189", "PF00106"], "domain_descriptions": ["5-nucleotidase", "Short-chain dehydrogenase/reductase SDR", "NAD(P)-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000250741", "ortholog_mouse": "Nt5c1b", "ortholog_xenopus": "nt5c1a", "ortholog_zebrafish": "nt5c1ba", "screens": {} }, { "gene": "NTRK2", "ensembl_id": "ENSG00000148053", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neurotrophic receptor tyrosine kinase 2 [Source:HGNC Symbol,Acc:HGNC:8032]", "omim_id": "600456", "functional_summary": "TrkB localized to the axonemes or basal bodies of cilia only in the presence of BDNF. Axonemal localization, specifically, was abrogated with loss of BBS4. Loss of the ciliary axoneme through depletion of KIF3A impedes activation of TrkB (24867303).", "localization": "basal body, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4867303E7", "complex_components": {}, "pfam_ids": ["PF07679", "PF16920", "PF01462", "PF13855", "PF07714"], "domain_descriptions": ["Leucine-rich repeat N-terminal domain", "Cysteine-rich flanking region", "C-terminal", "Leucine-rich repeat", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin I-set", "Immunoglobulin-like fold", "BDNF/NT-3 growth factors receptor NTRK2", "Growth factor receptor NTRK", "Growth factor receptor NTRK", "leucine rich repeat C-terminal", "Leucine-rich repeat domain superfamily", "Immunoglobulin-like domain superfamily", "Leucine-rich repeat and fibronectin type-III domain-containing", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class II", "conserved site", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Receptor Tyrosine Kinase", "Cell Adhesion and Cytoskeletal Organization"], "string_link": "https://string-db.org/network/9606/ENSG00000148053", "synonym": "TRKB", "ortholog_mouse": "Ntrk2", "ortholog_xenopus": "ntrk2", "ortholog_zebrafish": "ntrk2a, ntrk2b", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.577, "z_score": 0.6526, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.2556, "z_score": 2.453, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.3422 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.331, "z_score": 0.331, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.331 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8569, "z_score": -2.8569, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.8569 } ] }, { "gene": "NUBP1", "ensembl_id": "ENSG00000103274", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "NUBP iron-sulfur cluster assembly factor 1, cytosolic [Source:HGNC Symbol,Acc:HGNC:8041]", "omim_id": "600280", "functional_summary": "Nubp1 and Nubp2 interact with each other, but their individual knockdown, however, has differential effects on centrosome and spindle formation: while Nubp1 silencing qualitatively phenocopies KIFC5A silencing, also resulting in significant centrosome amplification throughout the cell cycle and the formation of multipolar spindles, Nubp2 appears to have a modulatory/accessory role for centriole arithmetics, in concert with KIFC5A and Nubp1 [16638812]. Nubp1 and Nubp2 localize on interphase centrioles in cycling cells and basal bodies in quiescent cells(23807208).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology", "reference": "16638812 , 23807208", "complex_components": ["NUBP1", "NUBP2"], "pfam_ids": "PF10609", "domain_descriptions": ["Iron-sulfur cluster carrier protein-like", "conserved site", "Mrp/NBP35 ATP-binding protein", "P-loop containing nucleoside triphosphate hydrolase", "Flagellum site-determining protein YlxH/ Fe-S cluster assembling factor NBP35", "AAA+ ATPase domain", "Cytosolic Fe-S cluster assembly factor NUBP1/Nbp35"], "string_link": "https://string-db.org/network/9606/ENSG00000103274", "synonym": "CIAO5, NBP1, NBP35", "ortholog_mouse": "Nubp1", "ortholog_c_elegans": "nubp-1", "ortholog_xenopus": "nubp1", "ortholog_zebrafish": "nubp1", "ortholog_drosophila": "Nubp1", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.1259, "sd_percent_ciliated": 3.9979, "z_score": 0.9834 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.74, "sd_percent_ciliated": 4.74, "z_score": 4.74 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.6879, "sd_percent_ciliated": -10.6879, "z_score": -10.6879 } ] }, { "gene": "NUBP2", "ensembl_id": "ENSG00000095906", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "NUBP iron-sulfur cluster assembly factor 2, cytosolic [Source:HGNC Symbol,Acc:HGNC:8042]", "omim_id": "610779", "functional_summary": "Nubp1 and Nubp2 interact with each other, but their individual knockdown, however, has differential effects on centrosome and spindle formation: while Nubp1 silencing qualitatively phenocopies KIFC5A silencing, also resulting in significant centrosome amplification throughout the cell cycle and the formation of multipolar spindles, Nubp2 appears to have a modulatory/accessory role for centriole arithmetics, in concert with KIFC5A and Nubp1 [16638812]. Nubp1 and Nubp2 localize on interphase centrioles in cycling cells and basal bodies in quiescent cells(23807208).", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "16638812 , 23807208", "complex_components": ["NUBP1", "NUBP2"], "pfam_ids": "PF10609", "domain_descriptions": ["Iron-sulfur cluster carrier protein-like", "conserved site", "Mrp/NBP35 ATP-binding protein", "P-loop containing nucleoside triphosphate hydrolase", "Cytosolic Fe-S cluster assembly factor NUBP2/Cfd1", "eukaryotes", "Flagellum site-determining protein YlxH/ Fe-S cluster assembling factor NBP35"], "string_link": "https://string-db.org/network/9606/ENSG00000095906", "synonym": "CFD1, CIAO6", "ortholog_mouse": "Nubp2", "ortholog_xenopus": "nubp2", "ortholog_zebrafish": "nubp2", "ortholog_drosophila": "Nubp2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.1104, "sd_percent_ciliated": 2.9145, "z_score": 1.1027, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 10.5, "sd_percent_ciliated": 10.5, "z_score": 10.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.9433, "sd_percent_ciliated": -5.9433, "z_score": -5.9433, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NUDC", "ensembl_id": "ENSG00000090273", "overexpression_effects": "Inhibits ciliogenesis", "lof_effects": "Longer", "percent_ciliated_cells_effects": "Increased", "description": "nuclear distribution C, dynein complex regulator [Source:HGNC Symbol,Acc:HGNC:8045]", "omim_id": "610325", "functional_summary": "Regulates actin dy mics and organisation, as well as ciliogenesis, by stabilising cofilin 1. Suppresses ciliogenesis in mammals (26704451).", "localization": "cilia , flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "30260431 ,26704451", "complex_components": ["DCTN1", "DYNC1I1", "NUDC", "PLK1"], "pfam_ids": ["PF16273", "PF04969", "PF14050"], "domain_descriptions": ["Nuclear migration protein nudC", "NudC family", "CS domain", "HSP20-like chaperone", "NudC N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000090273", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nudc", "ortholog_c_elegans": "nud-1", "ortholog_xenopus": "nudc", "ortholog_zebrafish": "nudc", "ortholog_drosophila": "nudC", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.3922, "sd_percent_ciliated": 5.9094, "z_score": -0.9229 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.67, "sd_percent_ciliated": 5.67, "z_score": 5.67 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2299, "sd_percent_ciliated": 0.2299, "z_score": 0.2299 } ] }, { "gene": "NUDCD2", "ensembl_id": "ENSG00000170584", "overexpression_effects": "Not Reported", "lof_effects": "Shorter", "percent_ciliated_cells_effects": "Reduced", "description": "NudC domain containing 2 [Source:HGNC Symbol,Acc:HGNC:30535]", "omim_id": "620136", "functional_summary": "NudCL2 and CP110 are removed from mother basal bodys during cilliogenesis (34480124).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "3.4480124E7", "complex_components": {}, "pfam_ids": "PF04969", "domain_descriptions": ["CS domain", "HSP20-like chaperone", "NudC family", "NudC domain-containing protein 2", "p23 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000170584", "synonym": "DKFZP686E10109, NUDCL2", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nudcd2", "ortholog_xenopus": "nudcd2", "ortholog_zebrafish": "nudcd2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 22.1, "sd_percent_ciliated": 22.1, "z_score": 22.1, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8392, "sd_percent_ciliated": -6.8392, "z_score": -6.8392, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NUDCD3", "ensembl_id": "ENSG00000015676", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "NudC domain containing 3 [Source:HGNC Symbol,Acc:HGNC:22208]", "omim_id": "610296", "functional_summary": "NUDCD3 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,25205765", "complex_components": ["DYNC2H1", "DYNC2I1", "DYNC2I2", "DYNC2LI1", "DYNLL1", "DYNLL2", "DYNLRB1", "DYNLRB2", "DYNLT1", "DYNLT2B", "DYNLT3", "NUDCD3"], "pfam_ids": ["PF14050", "PF04969"], "domain_descriptions": ["CS domain", "HSP20-like chaperone", "NudC N-terminal domain", "NudC family", "NudC domain-containing protein 3", "p23 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000015676", "synonym": "KIAA1068, NUDCL", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Nudcd3", "ortholog_xenopus": "nudcd3", "ortholog_zebrafish": "nudcd3", "ortholog_drosophila": "CG31251", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.35, "sd_percent_ciliated": 1.35, "z_score": 1.35, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.5885, "sd_percent_ciliated": 2.5885, "z_score": 2.5885, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NUDT16L1", "ensembl_id": "ENSG00000168101", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nudix hydrolase 16 like 1 [Source:HGNC Symbol,Acc:HGNC:28154]", "omim_id": "617338", "functional_summary": "Also called SDOS. Controls cilium biogenesis by regulating the translation of cilia mR s involved in ciliogenesis. Controls synthesis of constituent proteins of the primary cilium.", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5319694E7", "complex_components": {}, "pfam_ids": "PF22327", "domain_descriptions": ["NUDIX hydrolase-like domain superfamily", "U8 snoRNA-decapping enzyme NudT16"], "string_link": "https://string-db.org/network/9606/ENSG00000168101", "synonym": "SDOS, TIRR", "ortholog_mouse": "Nudt16l1", "ortholog_xenopus": "nudt16", "ortholog_zebrafish": "zgc:103759", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0385, "sd_percent_ciliated": -0.0385, "z_score": -0.0385, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NUDT5", "ensembl_id": "ENSG00000165609", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nudix hydrolase 5 [Source:HGNC Symbol,Acc:HGNC:8052]", "omim_id": "609230", "functional_summary": "NUDT5 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus, Mitochondria", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00293", "domain_descriptions": ["NUDIX hydrolase domain", "NUDIX hydrolase-like domain superfamily", "NUDIX hydrolase", "conserved site", "NUDIX hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000165609", "synonym": "HYSAH1, YSA1H", "ortholog_mouse": "Nudt5", "ortholog_c_elegans": "ndx-2", "ortholog_xenopus": "nudt5", "ortholog_zebrafish": "nudt5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 53.0464, "sd_percent_ciliated": 12.3016, "z_score": 1.8218 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8555, "sd_percent_ciliated": -0.8555, "z_score": -0.8555 } ] }, { "gene": "NUMB", "ensembl_id": "ENSG00000133961", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "NUMB endocytic adaptor protein [Source:HGNC Symbol,Acc:HGNC:8060]", "omim_id": "603728", "functional_summary": "Potential role in regulation of protein trafficking and polarised delivery of Cng channels to photoreceptor cilia, through recycling endosomes for delivery to OS plasma membrane (25319694 ).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3065118E7", "complex_components": ["AP2A1", "CCNB1", "EPN1", "NUMB", "RALBP1", "MDM2", "TP53"], "pfam_ids": ["PF00640", "PF06311"], "domain_descriptions": ["PTB/PI domain", "NUMB domain", "PH-like domain superfamily", "Numb/numb-like"], "string_link": "https://string-db.org/network/9606/ENSG00000133961", "synonym": "C14ORF41", "ortholog_mouse": "Numb", "ortholog_c_elegans": "num-1", "ortholog_xenopus": "numb", "ortholog_zebrafish": "numb", "ortholog_drosophila": "numb", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.9873, "z_score": 0.4685, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.1291, "z_score": 1.1049, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.2127 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.257, "z_score": 0.257, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.257 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2689, "z_score": -1.2689, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.2689 } ] }, { "gene": "NUP205", "ensembl_id": "ENSG00000155561", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "nucleoporin 205 [Source:HGNC Symbol,Acc:HGNC:18658]", "omim_id": "614352", "functional_summary": "Encodes a protein of the inner ring of the nuclear pore complex. Implicated as causes of steroid resistant nephrotic syndrome. When knocked down in Xenopus, Nup205 depletion results in loss of cilia and abnormal cardiac morphology, and mispositioning of intracellular ciliary structures such as basal bodies and rootlets (33065118). Downregulated in NEK3-/- patients who are predisposed to cilia-related abnormal cardiac left-right patterning", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Cardiac & muscle development, Transition zone, Transcription regulation", "reference": "2.2388888E7", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": "PF11894", "domain_descriptions": "Nucleoporin Nup186/Nup192/Nup205", "string_link": "https://string-db.org/network/9606/ENSG00000155561", "synonym": "C7ORF14, KIAA0225", "ortholog_mouse": "Nup205", "ortholog_c_elegans": "npp-3", "ortholog_xenopus": "nup205", "ortholog_zebrafish": "nup205", "ortholog_drosophila": "Nup205", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.108, "sd_percent_ciliated": 4.3953, "z_score": -0.4727 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 14.4, "sd_percent_ciliated": 14.4, "z_score": 14.4 } ] }, { "gene": "NUP214", "ensembl_id": "ENSG00000126883", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleoporin 214 [Source:HGNC Symbol,Acc:HGNC:8064]", "omim_id": "114350", "functional_summary": "Component of ciliary pore complex that regulares protein transport into cilia (22388888)", "localization": "transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Transition zone, Transcription regulation", "reference": "2.2388888E7", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR", "ABL1", "SMC4", "MAD2L1", "STAT1"], "pfam_ids": ["PF18617", "PF16755"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Nuclear pore complex protein", "Nucleoporin Nup159/Nup146", "N-terminal", "Nuclear pore complex protein Nup214", "phenylalanine-glycine (FG) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000126883", "synonym": "CAIN, CAN, D9S46E, N214", "ortholog_mouse": "Nup214", "ortholog_c_elegans": "npp-14", "ortholog_xenopus": "nup214", "ortholog_zebrafish": "nup214", "ortholog_drosophila": "Nup214", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.5885, "sd_percent_ciliated": 4.9568, "z_score": 0.4336 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.57, "sd_percent_ciliated": 1.57, "z_score": 1.57 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.6923, "sd_percent_ciliated": -7.6923, "z_score": -7.6923 } ] }, { "gene": "NUP35", "ensembl_id": "ENSG00000163002", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleoporin 35 [Source:HGNC Symbol,Acc:HGNC:29797]", "omim_id": "608140", "functional_summary": "Inner ring nucleoporin, component of ciliary pore complex that regulares protein transport into cilia (22388888)", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Transition zone, Transcription regulation", "reference": "2.2388888E7", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": "PF05172", "domain_descriptions": ["RNA-recognition motif (RRM) Nup35-type domain", "Nucleotide-binding alpha-beta plait domain superfamily", "Nucleoporin", "NUP53", "RNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000163002", "synonym": "MP44", "ortholog_mouse": "Nup35", "ortholog_c_elegans": "npp-19", "ortholog_xenopus": "nup35", "ortholog_zebrafish": "nup35", "ortholog_drosophila": "Nup35", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.73, "sd_percent_ciliated": 3.73, "z_score": 3.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.576, "sd_percent_ciliated": -2.576, "z_score": -2.576, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NUP37", "ensembl_id": "ENSG00000075188", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleoporin 37 [Source:HGNC Symbol,Acc:HGNC:29929]", "omim_id": "609264", "functional_summary": "Outer ring nucleoporin, component of ciliary pore complex that regulares protein transport into cilia (22388888)", "localization": "transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, T cell biology, Viral interactions, Transition zone, Transcription regulation", "reference": "22388888, 25264252", "complex_components": ["NUP107", "NUP133", "NUP160", "NUP37", "NUP43", "NUP85", "NUP98", "SEC13", "SEH1L", "Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP153", "NUP155", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP42", "NUP50", "NUP54", "NUP58", "NUP62", "NUP88", "NUP93", "POM121", "RAE1", "RANBP2", "TPR"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "Nucleoporin Nup37"], "string_link": "https://string-db.org/network/9606/ENSG00000075188", "synonym": "FLJ22618, MGC5585", "ortholog_mouse": "Nup37", "ortholog_xenopus": "nup37", "ortholog_zebrafish": "nup37", "ortholog_drosophila": "Nup37", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.7028, "sd_percent_ciliated": 3.41, "z_score": 0.6898 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.6, "sd_percent_ciliated": 4.6, "z_score": 4.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0541, "sd_percent_ciliated": -1.0541, "z_score": -1.0541 } ] }, { "gene": "NUP62", "ensembl_id": "ENSG00000213024", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleoporin 62 [Source:HGNC Symbol,Acc:HGNC:8066]", "omim_id": "605815", "functional_summary": "Central chanel nucleoporin, component of ciliary pore complex that regulares protein transport into cilia (22388888). Involved in active transport of cytosolic proteins into both ciliary and nuclear compartments (25264252).", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "22388888, 33065118", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": "PF05064", "domain_descriptions": ["Nucleoporin", "NSP1-like", "C-terminal", "Nucleoporin NSP1/NUP62"], "string_link": "https://string-db.org/network/9606/ENSG00000213024", "synonym": "DKFZP547L134, FLJ20822, FLJ43869, IBSN, MGC841, P62, SNDI", "ortholog_mouse": "Nup62", "ortholog_c_elegans": "npp-11", "ortholog_xenopus": "nup62", "ortholog_zebrafish": "nup62l", "ortholog_drosophila": "Nup62", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.1366, "sd_percent_ciliated": 14.4026, "z_score": -1.4385 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.44, "sd_percent_ciliated": 1.44, "z_score": 1.44 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.4114, "sd_percent_ciliated": -9.4114, "z_score": -9.4114 } ] }, { "gene": "NUP85", "ensembl_id": "ENSG00000125450", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleoporin 85 [Source:HGNC Symbol,Acc:HGNC:8734]", "omim_id": "170285", "functional_summary": "NUP85 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, T cell biology, Viral interactions, Cell migration & adhesion, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NUP107", "NUP133", "NUP160", "NUP37", "NUP43", "NUP85", "NUP98", "SEC13", "SEH1L", "Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP153", "NUP155", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP42", "NUP50", "NUP54", "NUP58", "NUP62", "NUP88", "NUP93", "POM121", "RAE1", "RANBP2", "TPR"], "pfam_ids": "PF07575", "domain_descriptions": "Nucleoporin Nup85-like", "string_link": "https://string-db.org/network/9606/ENSG00000125450", "synonym": "FLJ12549, NUP75", "ortholog_mouse": "Nup85", "ortholog_c_elegans": "npp-2", "ortholog_xenopus": "nup85", "ortholog_zebrafish": "nup85", "ortholog_drosophila": "Nup75", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.279, "z_score": 0.5595, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.0934, "z_score": 1.4641, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.0308 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 10.8, "z_score": 10.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 10.8 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.512, "z_score": -4.512, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.512 } ] }, { "gene": "NUP88", "ensembl_id": "ENSG00000108559", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "nucleoporin 88 [Source:HGNC Symbol,Acc:HGNC:8067]", "omim_id": "602552", "functional_summary": "rapsyn and NUP88 localisation at basal bodys and cilia (33168876).", "localization": "basal body, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Transcription regulation", "reference": "3.3168876E7", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": "PF10168", "domain_descriptions": ["Nucleoporin Nup88", "Nucleoporin NUP88/NUP82"], "string_link": "https://string-db.org/network/9606/ENSG00000108559", "synonym": "MGC8530", "ortholog_mouse": "Nup88", "ortholog_xenopus": "nup88", "ortholog_zebrafish": "nup88", "ortholog_drosophila": "mbo", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 24.8034, "sd_percent_ciliated": 11.2709, "z_score": -1.6, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.243, "sd_percent_ciliated": 0.243, "z_score": 0.243, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.1544, "sd_percent_ciliated": -11.1544, "z_score": -11.1544, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "NUP93", "ensembl_id": "ENSG00000102900", "overexpression_effects": "Not Reported", "lof_effects": "Loss leads to cilia loss", "percent_ciliated_cells_effects": "Decreased", "description": "nucleoporin 93 [Source:HGNC Symbol,Acc:HGNC:28958]", "omim_id": "614351", "functional_summary": "Inner ring nucleoporin, component of ciliary pore complex that regulares protein transport into cilia (22388888). Involved in proper left-right patterning in developing embryos (33065118).", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "26493400, 29731308", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": "PF04097", "domain_descriptions": "Nucleoporin interacting component Nup93/Nic96", "string_link": "https://string-db.org/network/9606/ENSG00000102900", "synonym": "KIAA0095", "ortholog_mouse": "Nup93", "ortholog_c_elegans": "npp-13", "ortholog_xenopus": "nup93", "ortholog_zebrafish": "nup93", "ortholog_drosophila": "Nup93-1, Nup93-2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 20.2618, "sd_percent_ciliated": 7.5018, "z_score": -2.1502 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.9, "sd_percent_ciliated": 11.9, "z_score": 11.9 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -24.8932, "sd_percent_ciliated": -24.8932, "z_score": -24.8932 } ] }, { "gene": "NUP98", "ensembl_id": "ENSG00000110713", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "nucleoporin 98 and 96 precursor [Source:HGNC Symbol,Acc:HGNC:8068]", "omim_id": "601021", "functional_summary": "Interact with Nek2 to regulate cilium integrity, as removal of Nup98 from the ciliary nucleoporin complex is mandatory for ciliary resorption (26493400). Component of a diffusion barrier that limits diffusion of molecules >70kDa between cytoplasm and ciliary matrix.Knockdown of NUB98 stops cilium elongations, suggesting it is required for cilia length regulation (29731308).", "localization": "basal body, transition zone , cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, T cell biology, Viral interactions, Transition zone, Transcription regulation, Cilia length regulation", "reference": "22543976, 22228094, 22680056, 25143588", "complex_components": ["NUP107", "NUP133", "NUP160", "NUP37", "NUP43", "NUP85", "NUP98", "SEC13", "SEH1L", "Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP153", "NUP155", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP42", "NUP50", "NUP54", "NUP58", "NUP62", "NUP88", "NUP93", "POM121", "RAE1", "RANBP2", "TPR"], "pfam_ids": ["PF04096", "PF12110", "PF21240", "PF13634"], "domain_descriptions": ["Nuclear pore complex protein Nup98-Nup96-like", "autopeptidase S59 domain", "Nuclear pore complex protein NUP96", "C-terminal domain", "Nuclear pore complex protein Nup98-Nup96-like", "autopeptidase S59 domain superfamily", "Nucleoporin peptidase S59-like", "Nucleoporin FG repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000110713", "synonym": "NUP196, NUP96, NUP98-96, NUP98-NUP96", "ortholog_mouse": "Nup98", "ortholog_c_elegans": "npp-10", "ortholog_xenopus": "nup98", "ortholog_zebrafish": "nup98", "ortholog_drosophila": "Nup98-96", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.4791, "sd_percent_ciliated": 2.3013, "z_score": -0.5489 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.92, "sd_percent_ciliated": 5.92, "z_score": 5.92 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -15.0364, "sd_percent_ciliated": -15.0364, "z_score": -15.0364 } ] }, { "gene": "NYAP2", "ensembl_id": "ENSG00000144460", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 [Source:HGNC Symbol,Acc:HGNC:29291]", "omim_id": "615478", "functional_summary": "The Neuro l tyrosine-phosphorylated phosphoinositide-3-ki se adapter 2, NYAP2, which belongs to a family of proteins that regulates neuro l morphogenesis (21946561) localized at cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.1946561E7", "complex_components": {}, "pfam_ids": ["PF15439", "PF15452"], "domain_descriptions": ["Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1/2", "Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter", "C-terminal domain", "Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000144460", "synonym": "KIAA1486", "ortholog_mouse": "Nyap2", "ortholog_xenopus": "nyap2", "ortholog_zebrafish": "nyap2a, nyap2b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6152, "sd_percent_ciliated": -0.6152, "z_score": -0.6152, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "OAZ1", "ensembl_id": "ENSG00000104904", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ornithine decarboxylase antizyme 1 [Source:HGNC Symbol,Acc:HGNC:8095]", "omim_id": "601579", "functional_summary": "OAZ1 stained satellites concentrated around centrosomes in A‐431 cells,a more defined localization to basal bodies was apparent from the staining of motile cilia in ciliated tissues and primary cilia and basal body in hTERT‐RPE1 cells (21399614).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "2.1399614E7", "complex_components": ["OAZ1", "PSMB4", "SMAD1", "CCND1", "ODC1", "AZIN1", "AZIN2"], "pfam_ids": "PF02100", "domain_descriptions": ["Ornithine decarboxylase antizyme", "Acyl-CoA N-acyltransferase", "Ornithine decarboxylase antizyme superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000104904", "synonym": "AZ1, AZI, MGC138338, OAZ", "ortholog_mouse": "Oaz1", "ortholog_c_elegans": "oaz-1", "ortholog_xenopus": "oaz1", "ortholog_zebrafish": "oaz1a, oaz1b", "ortholog_drosophila": "Oda", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.8747, "sd_percent_ciliated": 1.016, "z_score": -0.2586 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.41, "sd_percent_ciliated": 3.41, "z_score": 3.41 } ] }, { "gene": "OAZ3", "ensembl_id": "ENSG00000143450", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ornithine decarboxylase antizyme 3 [Source:HGNC Symbol,Acc:HGNC:8097]", "omim_id": "605138", "functional_summary": "OAZ3 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Viral interactions", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF02100", "domain_descriptions": ["Ornithine decarboxylase antizyme", "Acyl-CoA N-acyltransferase", "Ornithine decarboxylase antizyme superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000143450", "ortholog_mouse": "Oaz3", "ortholog_c_elegans": "oaz-1", "ortholog_drosophila": "Oda", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.9988, "sd_percent_ciliated": 1.3376, "z_score": 0.6045 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.968, "sd_percent_ciliated": 0.968, "z_score": 0.968 } ] }, { "gene": "OCRL", "ensembl_id": "ENSG00000122126", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "OCRL inositol polyphosphate-5-phosphatase [Source:HGNC Symbol,Acc:HGNC:8108]", "omim_id": "300535", "functional_summary": "Interacts with GTPases and is involved in intracellular trafficking and cilia mainte nce, mutation are associated with Lowe syndrome (22543976). Required for cilia assembly by contributing to Rab8/IPIP27 dependent protein trafficking to the primary cilia (22228094) and modulation of cilia length (22680056). Required for primary cilia to respond to pressure stimulation through its interaction with vanilloid 4 (25143588).", "localization": "basal body, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "15852003, 30623524, 22265411, 9430698 ,9430698", "complex_components": {}, "pfam_ids": ["PF22669", "PF00620", "PF16726", "PF21310"], "domain_descriptions": ["Rho GTPase-activating protein domain", "Inositol polyphosphate-related phosphatase", "Rho GTPase activation protein", "Immunoglobulin-like fold", "Inositol polyphosphate 5-phosphatase", "clathrin binding domain", "Endonuclease/exonuclease/phosphatase superfamily", "OCRL1", "PH domain", "OCRL1/INPP5B", "INPP5c domain", "Inositol 5-phosphatase", "Inositol polyphosphate 5-phosphatase OCRL", "RhoGAP", "OCRL-1/2", "ASH domain"], "string_link": "https://string-db.org/network/9606/ENSG00000122126", "synonym": "DENT-2, OCRL1", "ciliopathy": "Lowe Oculocerebrorenal Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ocrl", "ortholog_c_elegans": "ocrl-1", "ortholog_xenopus": "ocrl", "ortholog_zebrafish": "ocrl", "ortholog_drosophila": "Ocrl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.5339, "sd_percent_ciliated": 5.4842, "z_score": 0.3059, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.51, "sd_percent_ciliated": 2.51, "z_score": 2.51, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.939, "sd_percent_ciliated": -5.939, "z_score": -5.939, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ODAD1", "ensembl_id": "ENSG00000105479", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "outer dynein arm docking complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:26560]", "omim_id": "615038", "functional_summary": "Subunit of the outer dynein arm (ODA) docking complex. It is responsible for axonemal microtubule attachment .", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "25192045, 23261303, 23261303, 23261302 ,23261303, 23261302; 24067530", "complex_components": ["ODAD1", "ODAD2", "ODAD3", "ODAD4"], "pfam_ids": "PF21773", "domain_descriptions": ["ODAD1", "central coiled coil region", "Outer dynein arm-docking/Coiled-coil domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000105479", "synonym": "CCDC114, CILD20, FLJ32926", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Odad1", "ortholog_xenopus": "ccdc63", "ortholog_zebrafish": "odad1", "ortholog_drosophila": "Ccdc114", "screens": {} }, { "gene": "ODAD2", "ensembl_id": "ENSG00000169126", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "outer dynein arm docking complex subunit 2 [Source:HGNC Symbol,Acc:HGNC:25583]", "omim_id": "615408", "functional_summary": "PCD with randomisation of body axis 23849778. Causes outer dynein arm defects in motile cilia 24203976", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "23849778, 24203976, 23849778 ,23849778", "complex_components": ["ODAD1", "ODAD2", "ODAD3", "ODAD4"], "pfam_ids": "PF00514", "domain_descriptions": ["Armadillo", "Armadillo-like helical", "Armadillo-type fold", "GSKIP domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000169126", "synonym": "ARMC4, CILD23, DKFZP434P1735, FLJ10376, FLJ10817, GUDU", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Odad2", "ortholog_xenopus": "odad2", "ortholog_zebrafish": "odad2", "ortholog_drosophila": "gudu", "screens": {} }, { "gene": "ODAD3", "ensembl_id": "ENSG00000198003", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "outer dynein arm docking complex subunit 3 [Source:HGNC Symbol,Acc:HGNC:28303]", "omim_id": "615956", "functional_summary": "Ensures correct attachment of outer dynein arm (ODA) complexes to and is required for proper motile and non-motile functions, controls intraflagellar transport (IFT)- dependent dynein arm assembly and regulates primary cilia lenght in mammals. Required for the correct establishment of left-right asymmetry. When mutated causes PCD by disruption of the outer dynein arm docking complex formation (25192045 )", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "24067530, 25224326, 25192045, 25224326 ,25224326", "complex_components": ["ODAD1", "ODAD2", "ODAD3", "ODAD4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000198003", "synonym": "CCDC151, MGC20983, ODA10", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Odad3", "ortholog_xenopus": "odad3", "ortholog_zebrafish": "odad3", "ortholog_drosophila": "CCDC151", "screens": {} }, { "gene": "ODAD4", "ensembl_id": "ENSG00000204815", "overexpression_effects": "Not Reported", "lof_effects": "Reduced", "percent_ciliated_cells_effects": "Not Reported", "description": "outer dynein arm docking complex subunit 4 [Source:HGNC Symbol,Acc:HGNC:25280]", "omim_id": "617095", "functional_summary": "Member of the ODA-docking complex in humans and mice. Plays an essential role in the correct function of motile cilia and is therefore important for the development of left-right patterning. Mutations result in PCD and randomisation of left-right body asymmetry. TTC25 deficiency in mice leads to absence of ODA (27486780). May interacts with CFAP53 to facilitate ODA proteins transport into the axoneme and regulate its stable docking with the axonemal (33347437). TTC25 morphant cells show fewer and extremely shorter cilia. (17961536).", "localization": "basal body, cilia ,flagella, transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Transition zone", "reference": "28264835, 22718903, 24596149, 27927754, 27486780 ,27486780", "complex_components": ["ODAD1", "ODAD2", "ODAD3", "ODAD4"], "pfam_ids": "PF13181", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Outer dynein arm-docking complex subunit 4"], "string_link": "https://string-db.org/network/9606/ENSG00000204815", "synonym": "DKFZP434H0115, TTC25", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Odad4", "ortholog_xenopus": "odad4", "ortholog_zebrafish": "odad4", "ortholog_drosophila": "CG13502", "screens": {} }, { "gene": "ODF1", "ensembl_id": "ENSG00000155087", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "outer dense fiber of sperm tails 1 [Source:HGNC Symbol,Acc:HGNC:8113]", "omim_id": "182878", "functional_summary": "CCDC42 co-localizes with ODF1, when both proteins are ectopically expressed in NIH3T3 cells, at the centrosome. CCDC42 interacts with ODF1 and ODF2 in the formation of the male germ cell cytoskeleton(31475146).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "3.1475146E7", "complex_components": {}, "pfam_ids": "PF00011", "domain_descriptions": ["Alpha crystallin/Hsp20 domain", "HSP20-like chaperone", "Outer dense fibre protein 1", "Outer dense fibre protein 1", "alpha crystallin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000155087", "synonym": "CT133, HSPB10, ODF27, ODFPG, RT7", "ortholog_mouse": "Odf1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.562, "sd_percent_ciliated": 0.055, "z_score": -0.2965 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.998, "sd_percent_ciliated": -8.998, "z_score": -8.998 } ] }, { "gene": "ODF2", "ensembl_id": "ENSG00000136811", "overexpression_effects": "No effect", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "outer dense fiber of sperm tails 2 [Source:HGNC Symbol,Acc:HGNC:8114]", "omim_id": "602015", "functional_summary": "Required for localization of ninein to the appendages of the mother centriole, for the formation of the appendages necessary for primary cilia formation, as it to appears to origi te from the Odf2- positive end (15852003). It associates with Cep128 in the construction of subdistal appendages (30623524). Critical in the formation of basal feet, important for the polarization of basal bodies and coordi ted beating of cilia (22265411).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation", "reference": "16311594, 20230748, 24089205", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1", "CEP128", "CEP170", "CNTRL", "DCTN1", "KIF2A", "NIN"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000136811", "synonym": "CT134, ODF84", "ortholog_mouse": "Odf2", "ortholog_xenopus": "odf2", "ortholog_zebrafish": "odf2a, odf2b", "ortholog_drosophila": "CG8851", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.2762, "sd_percent_ciliated": 0.1246, "z_score": -0.6946 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.342, "sd_percent_ciliated": -1.342, "z_score": -1.342 } ] }, { "gene": "ODF4", "ensembl_id": "ENSG00000184650", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "outer dense fiber of sperm tails 4 [Source:HGNC Symbol,Acc:HGNC:19056]", "omim_id": "610097", "functional_summary": "ODF4 has localized in flagella.", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000184650", "synonym": "CT136, OPPO1", "ortholog_mouse": "Odf4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 22.8884, "sd_percent_ciliated": 13.513, "z_score": -1.832 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.648, "sd_percent_ciliated": 0.648, "z_score": 0.648 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.8538, "sd_percent_ciliated": 1.8538, "z_score": 1.8538 } ] }, { "gene": "OFD1", "ensembl_id": "ENSG00000046651", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "OFD1 centriole and centriolar satellite protein [Source:HGNC Symbol,Acc:HGNC:2567]", "omim_id": "300170", "functional_summary": "Associated with oral-facial- digital type I syndrome. Absence of the Ofd1 protein leads to basal body dysfunction, which in turn prevents the assembly of the primary cilium, and causes failure of left-right axis specification (16311594). It associates with the distal ends of centriolar to build distal appendages, recruit Ift88, and stabilise centriole length and regulate ciliogenesis (20230748). Its presence at the centriolar satellite suppresses primary ciliogenesis and removal of OFD1 by autophagy promotes it (24089205).", "localization": "cilia, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "16472605, 31366608, 20818665, 19800048, 22619378, 16783569 ,19800048; 20818665; 22619378; 31366608", "complex_components": ["CEP20", "KIAA0753", "OFD1", "PIBF1", "MAP1LC3A", "PCM1"], "pfam_ids": "PF16045", "domain_descriptions": ["LIS1 homology motif", "Centriole and centriolar satellite OFD1"], "string_link": "https://string-db.org/network/9606/ENSG00000046651", "synonym": "71-7A, CXORF5, JBTS10, RP23", "ciliopathy": "Joubert Syndrome; Orofaciodigital Syndrome; Retinitis Pigmentosa; Primary Ciliary Dyskinesia", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases; Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ofd1", "ortholog_xenopus": "ofd1", "ortholog_zebrafish": "ofd1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.8857, "sd_percent_ciliated": 9.0471, "z_score": 0.1062 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 146, "sd_percent_ciliated": 146, "z_score": 146 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -16.305, "sd_percent_ciliated": -16.305, "z_score": -16.305 } ] }, { "gene": "ONECUT1", "ensembl_id": "ENSG00000169856", "overexpression_effects": "Not Reported", "lof_effects": "Abnormal development", "percent_ciliated_cells_effects": "Not Reported", "description": "one cut homeobox 1 [Source:HGNC Symbol,Acc:HGNC:8138]", "omim_id": "604164", "functional_summary": "Also called HNF6. Transcription factor that controls the expression of a network of genes involved in ciliogenesis, cilium function and in hereditary polycystic diseases (16472605).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "30614359, 21307337", "complex_components": ["CEBPA", "ONECUT1"], "pfam_ids": ["PF00046", "PF02376"], "domain_descriptions": ["Homeodomain", "CUT domain", "Homedomain-like superfamily", "Lambda repressor-like", "DNA-binding domain superfamily", "CUT Homeobox Domain-Containing Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000169856", "synonym": "HNF-6, HNF6, HNF6A", "ortholog_mouse": "Onecut1", "ortholog_c_elegans": "ceh-48", "ortholog_xenopus": "onecut1", "ortholog_zebrafish": "onecut1, onecutl", "ortholog_drosophila": "onecut", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.902, "sd_percent_ciliated": 8.6651, "z_score": -0.6188 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.2, "sd_percent_ciliated": 3.2, "z_score": 3.2 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3277, "sd_percent_ciliated": -1.3277, "z_score": -1.3277 } ] }, { "gene": "OPN1LW", "ensembl_id": "ENSG00000102076", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "opsin 1, long wave sensitive [Source:HGNC Symbol,Acc:HGNC:9936]", "omim_id": "300822", "functional_summary": "Encodes photoreceptor opsins and is associated with blue cone monochromacy (30614359). Requires IFT20 for localisation (21307337).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30614359, 21307337", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Opsin red/green sensitive", "Opsin", "GPCR", "rhodopsin-like", "7TM", "Visual pigments (opsins) retinal binding site", "G-protein coupled receptor opsins"], "string_link": "https://string-db.org/network/9606/ENSG00000102076", "synonym": "CBBM, CBP, COD5, RCP", "ortholog_mouse": "Opn1mw", "ortholog_c_elegans": "F57C9.6", "ortholog_xenopus": "opn1lw", "ortholog_zebrafish": "opn1lw1, opn1lw2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.6932, "sd_percent_ciliated": 1.9905, "z_score": -0.2806 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.65, "sd_percent_ciliated": 3.65, "z_score": 3.65 } ] }, { "gene": "OPN1MW", "ensembl_id": "ENSG00000268221", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "opsin 1, medium wave sensitive [Source:HGNC Symbol,Acc:HGNC:4206]", "omim_id": "300821", "functional_summary": "Encodes photoreceptor opsins and is associated with blue cone monochromacy (30614359). Requires IFT20 for localisation (21307337).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30614359, 21307337", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Opsin red/green sensitive", "Opsin", "GPCR", "rhodopsin-like", "7TM", "Visual pigments (opsins) retinal binding site", "G-protein coupled receptor opsins"], "string_link": "https://string-db.org/network/9606/ENSG00000268221", "synonym": "CBBM, CBD, COD5, GCP, OPN1MW1", "ortholog_mouse": "Opn1mw", "ortholog_xenopus": "opn1lw", "ortholog_zebrafish": "opn1lw1, opn1lw2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.5655, "sd_percent_ciliated": 2.5714, "z_score": -1.5076 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.8426, "sd_percent_ciliated": -5.8426, "z_score": -5.8426 } ] }, { "gene": "OPN1MW2", "ensembl_id": "ENSG00000166160", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "opsin 1, medium wave sensitive 2 [Source:HGNC Symbol,Acc:HGNC:26952]", "functional_summary": "Encodes photoreceptor opsins and is associated with blue cone monochromacy (30614359). Requires IFT20 for localisation (21307337).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30614359, 21307337", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Opsin red/green sensitive", "Opsin", "GPCR", "rhodopsin-like", "7TM", "Visual pigments (opsins) retinal binding site", "G-protein coupled receptor opsins"], "string_link": "https://string-db.org/network/9606/ENSG00000166160", "ortholog_mouse": "Opn1mw", "ortholog_xenopus": "opn1lw", "ortholog_zebrafish": "opn1lw1, opn1lw2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.5957, "sd_percent_ciliated": 3.4688, "z_score": 0.1922 } ] }, { "gene": "OPN1SW", "ensembl_id": "ENSG00000128617", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "opsin 1, short wave sensitive [Source:HGNC Symbol,Acc:HGNC:1012]", "omim_id": "613522", "functional_summary": "Encodes photoreceptor opsins and is associated with blue cone monochromacy (30614359). Requires IFT20 for localisation (21307337).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6167768E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Opsin", "blue sensitive", "Opsin", "GPCR", "rhodopsin-like", "7TM", "Visual pigments (opsins) retinal binding site", "G-protein coupled receptor opsins"], "string_link": "https://string-db.org/network/9606/ENSG00000128617", "synonym": "BCP, BOP, CBT", "ortholog_mouse": "Opn1sw", "ortholog_xenopus": "opn1sw", "ortholog_zebrafish": "opn1sw1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.5979, "z_score": 0.3469, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.7023, "z_score": 1.5378, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.5874 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.246, "z_score": 0.246, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.246 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8586, "z_score": -6.8586, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.8586 } ] }, { "gene": "OPN3", "ensembl_id": "ENSG00000054277", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "opsin 3 [Source:HGNC Symbol,Acc:HGNC:14007]", "omim_id": "606695", "functional_summary": "OPN3 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["MC1R", "OPN3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000054277", "synonym": "ECPN, ENCEPHALOPSIN, ERO, NMO-1, PPP1R116", "ortholog_mouse": "Opn3", "ortholog_xenopus": "opn3", "ortholog_zebrafish": "opn3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.397, "sd_percent_ciliated": 2.4471, "z_score": 0.047 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.136, "sd_percent_ciliated": 0.136, "z_score": 0.136 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.5908, "sd_percent_ciliated": -5.5908, "z_score": -5.5908 } ] }, { "gene": "OPRL1", "ensembl_id": "ENSG00000125510", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "opioid related nociceptin receptor 1 [Source:HGNC Symbol,Acc:HGNC:8155]", "omim_id": "602548", "functional_summary": "Neuro l ciliary GPCR. As a GPCR, it may play sensory or sig lling roles in the ciliary vesicle at early stages of ciliogenesis", "localization": "basal body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "23516378, 30696958", "complex_components": ["GPRASP1", "OPRL1", "APLNR", "OPRM1", "OPRK1", "OPRD1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000125510", "synonym": "KOR-3, NOCIR, NOPR, OOR, ORL1, PNOCR", "ortholog_mouse": "Oprl1", "ortholog_c_elegans": "npr-24, npr-28", "ortholog_xenopus": "oprl1", "ortholog_zebrafish": "oprl1", "ortholog_drosophila": "AstC-R2", "screens": {} }, { "gene": "OR10Q1", "ensembl_id": "ENSG00000180475", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "olfactory receptor family 10 subfamily Q member 1 [Source:HGNC Symbol,Acc:HGNC:15134]", "functional_summary": "OR10Q1 has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF13853", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Olfactory receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000180475", "ortholog_mouse": "Or10q1, Or10q12, Or10q1b", "ortholog_xenopus": "or5ar54", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.2566, "z_score": 0.8648, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.1683, "z_score": 2.2001, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.6624 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0836, "z_score": 0.0836, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.0836 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2684, "z_score": 0.2684, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.2684 } ] }, { "gene": "OR6P1", "ensembl_id": "ENSG00000186440", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "olfactory receptor family 6 subfamily P member 1 [Source:HGNC Symbol,Acc:HGNC:15036]", "functional_summary": "OR6P1 has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF13853", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Olfactory receptor", "GPCR", "rhodopsin-like", "7TM", "Olfactory G-protein coupled receptor 1"], "string_link": "https://string-db.org/network/9606/ENSG00000186440", "ortholog_mouse": "Or6p1", "ortholog_xenopus": "LOC105945323, LOC116412148, LOC116412178, LOC116412180, LOC116412264, or10br1, or15a1c, or15a1e, or15a1g, or15a1i, or15a1j, or15a2, or15a3, or15a4, or15c1, or15e1aa, or15e1ae, or15e1j, or15e1p, or15e1z, or15g1, or15h3, or16a5, or16b1c, or16b1e, or16b1j, or16b2, or16b2c, or16d1, or16h2b, or16h2c, or16j1b, or5ar12, or5dj1, or5do10, or6b32", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.196, "sd_percent_ciliated": 0.196, "z_score": 0.196, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.2438, "sd_percent_ciliated": 1.2438, "z_score": 1.2438, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ORC1", "ensembl_id": "ENSG00000085840", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "origin recognition complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:8487]", "omim_id": "601902", "functional_summary": "Mutations are associated with Seckel syndrome and/or Meier-Gorlin syndrome (23516378). Knockdown affects ciliogenesis and Hh sig ling. It prevents reduplication events that could lead to supernumerary centrioles, which has been associated with cilia defects (30696958).", "localization": "basal body, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "26167768 ,30696958", "complex_components": ["Orc1", "Orc2", "Orc3", "Orc4", "Orc5", "Orc6", "ORC1", "ORC2", "ORC3", "ORC4", "ORC5", "ORC6", "BRCA1", "CDC6", "GMNN"], "pfam_ids": ["PF17872", "PF00004", "PF01426", "PF09079", "PF13191"], "domain_descriptions": ["Bromo adjacent homology (BAH) domain", "AAA+ ATPase domain", "ATPase", "AAA-type", "core", "Cdc6", "C-terminal", "P-loop containing nucleoside triphosphate hydrolase", "AAA lid domain", "Bromo adjacent homology (BAH) domain superfamily", "Origin Recognition Complex 1/Cell Division Control Protein 6", "Orc1-like", "AAA ATPase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000085840", "synonym": "HSORC1, ORC1L, PARC1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Orc1", "ortholog_c_elegans": "orc-1", "ortholog_xenopus": "orc1", "ortholog_zebrafish": "orc1", "ortholog_drosophila": "Orc1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.329, "sd_percent_ciliated": 2.329, "z_score": 2.329, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ORC4", "ensembl_id": "ENSG00000115947", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "origin recognition complex subunit 4 [Source:HGNC Symbol,Acc:HGNC:8490]", "omim_id": "603056", "functional_summary": "Depletion of ORC1, ORC4, ORC6, CDT1 and CDC6 resulted in dramatically impaired cilia formation similar to ORC1-deficient patient cells ( 23516378).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm", "reference": "2.3516378E7", "complex_components": ["Orc1", "Orc2", "Orc3", "Orc4", "Orc5", "Orc6", "ORC1", "ORC2", "ORC3", "ORC4", "ORC5", "ORC6", "XRCC5", "XRCC6"], "pfam_ids": ["PF13191", "PF14629", "PF00004"], "domain_descriptions": ["AAA+ ATPase domain", "Origin recognition complex subunit 4", "P-loop containing nucleoside triphosphate hydrolase", "Origin recognition complex subunit 4", "C-terminal", "Orc1-like", "AAA ATPase domain", "ATPase", "AAA-type", "core"], "string_link": "https://string-db.org/network/9606/ENSG00000115947", "synonym": "HSORC4, ORC4L, ORC4P", "ortholog_mouse": "Orc4", "ortholog_xenopus": "orc4", "ortholog_zebrafish": "orc4", "ortholog_drosophila": "Orc4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.39, "sd_percent_ciliated": 8.39, "z_score": 8.39, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.172, "sd_percent_ciliated": -1.172, "z_score": -1.172, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ORC6", "ensembl_id": "ENSG00000091651", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "origin recognition complex subunit 6 [Source:HGNC Symbol,Acc:HGNC:17151]", "omim_id": "607213", "functional_summary": "Depletion of ORC1, ORC4, ORC6, CDT1 and CDC6 resulted in dramatically impaired cilia formation similar to ORC1-deficient patient cells ( 23516378).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "2.3516378E7", "complex_components": ["Orc1", "Orc2", "Orc3", "Orc4", "Orc5", "Orc6", "ORC1", "ORC2", "ORC3", "ORC4", "ORC5", "ORC6", "XRCC5", "XRCC6"], "pfam_ids": ["PF21913", "PF05460"], "domain_descriptions": ["ORC6", "first cyclin-like domain", "Origin recognition complex", "subunit 6", "metazoa/plant", "ORC6", "second cyclin-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000091651", "synonym": "ORC6L", "ortholog_mouse": "Orc6", "ortholog_xenopus": "orc6", "ortholog_zebrafish": "orc6", "ortholog_drosophila": "Orc6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.04, "sd_percent_ciliated": 5.04, "z_score": 5.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7522, "sd_percent_ciliated": -3.7522, "z_score": -3.7522, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "OSBPL10", "ensembl_id": "ENSG00000144645", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "oxysterol binding protein like 10 [Source:HGNC Symbol,Acc:HGNC:16395]", "omim_id": "606738", "functional_summary": "Myoferlin (MYOF) and Oxysterol Binding Protein Like 10 (OSBPL10) were detected at the basal body and that NRP1 was localised along the ciliary shaft.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2025.05.11.653368", "complex_components": {}, "pfam_ids": ["PF01237", "PF15409"], "domain_descriptions": ["Oxysterol-binding protein", "Oxysterol-binding protein", "conserved site", "Oxysterol-binding protein superfamily", "Pleckstrin homology domain", "PH-like domain superfamily", "Pleckstrin homology domain 8"], "string_link": "https://string-db.org/network/9606/ENSG00000144645", "ortholog_mouse": "Osbpl10", "ortholog_xenopus": "osbpl10", "ortholog_zebrafish": "osbpl10b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.8565, "sd_percent_ciliated": 3.8524, "z_score": -0.6243 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.792, "sd_percent_ciliated": 0.792, "z_score": 0.792 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4294, "sd_percent_ciliated": -0.4294, "z_score": -0.4294 } ] }, { "gene": "OSCP1", "ensembl_id": "ENSG00000116885", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "organic solute carrier partner 1 [Source:HGNC Symbol,Acc:HGNC:29971]", "omim_id": "608854", "functional_summary": "OSCP1 is a ciliary component, required for regulating vertebrate ciliogenesis and associated tissue homeostasis(31095607).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.1095607E7", "complex_components": {}, "pfam_ids": "PF10188", "domain_descriptions": "Organic solute carrier protein 1", "string_link": "https://string-db.org/network/9606/ENSG00000116885", "synonym": "C1ORF102, NOR1", "ortholog_mouse": "Oscp1", "ortholog_c_elegans": "R10F2.5", "ortholog_xenopus": "oscp1", "ortholog_zebrafish": "oscp1a, oscp1b", "ortholog_drosophila": "OSCP1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.05, "sd_percent_ciliated": 4.05, "z_score": 4.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.0219, "sd_percent_ciliated": -2.0219, "z_score": -2.0219, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "OTOG", "ensembl_id": "ENSG00000188162", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "otogelin [Source:HGNC Symbol,Acc:HGNC:8516]", "omim_id": "604487", "functional_summary": "Otogelin is not a ciliary membrane protein itself but is closely localized to kinociliary tips, functioning in the extracellular environment at the cilia interface.Otogelin is essential for the early interaction between tether cell cilia and otolith precursors, though it doesn’t seem to affect cilia structure per se — rather, it affects how cilia are used as attachment sites during sensory organ morphogenesis(PMID: 25758224).", "localization": "cilia, Cytosol, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Ciliary membrane", "reference": "2.5758224E7", "complex_components": {}, "pfam_ids": ["PF05270", "PF01826", "PF08742", "PF23244", "PF00094"], "domain_descriptions": ["EGF-like domain", "VWFC domain", "von Willebrand factor", "type D domain", "Trypsin Inhibitor-like", "cysteine rich domain", "Cystine knot", "C-terminal", "Alpha-L-arabinofuranosidase B", "arabinose-binding domain", "VWF/SSPO/Zonadhesin-like", "cysteine-rich domain", "Serine protease inhibitor-like superfamily", "Alpha-L-arabinofuranosidase B", "arabinose-binding domain superfamily", "Mucin/von Willebrand/Thrombospondin superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000188162", "synonym": "FLJ46346, MLEMP, OTGN", "ortholog_mouse": "Otog", "ortholog_xenopus": "otog", "ortholog_zebrafish": "otog", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.3387, "sd_percent_ciliated": 2.8704, "z_score": 0.888, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.667, "sd_percent_ciliated": 0.667, "z_score": 0.667, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8955, "sd_percent_ciliated": -0.8955, "z_score": -0.8955, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "OTX1", "ensembl_id": "ENSG00000115507", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "orthodenticle homeobox 1 [Source:HGNC Symbol,Acc:HGNC:8521]", "omim_id": "600036", "functional_summary": "Mutations in the OTX1 gene cause Medulloblastoma (PMID: 30797919).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "30797919 ,30797919", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000115507", "ciliopathy": "Medulloblastoma", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Otx1", "ortholog_c_elegans": "ttx-1", "ortholog_xenopus": "otx1", "ortholog_zebrafish": "otx1", "ortholog_drosophila": "oc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.4801, "sd_percent_ciliated": 8.855, "z_score": 1.1474 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.02, "sd_percent_ciliated": 5.02, "z_score": 5.02 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.1336, "sd_percent_ciliated": -3.1336, "z_score": -3.1336 } ] }, { "gene": "OTX2", "ensembl_id": "ENSG00000165588", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "orthodenticle homeobox 2 [Source:HGNC Symbol,Acc:HGNC:8522]", "omim_id": "600037", "functional_summary": "Mutations in the OTX2 gene cause Medulloblastoma (PMID: 30797919).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "30797919 ,30797919", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000165588", "ciliopathy": "Medulloblastoma", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Otx2", "ortholog_c_elegans": "ceh-37, ttx-1", "ortholog_xenopus": "otx2", "ortholog_zebrafish": "otx2b", "ortholog_drosophila": "oc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.0963, "sd_percent_ciliated": 7.567, "z_score": -0.5952 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.213, "sd_percent_ciliated": 0.213, "z_score": 0.213 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.1123, "sd_percent_ciliated": -3.1123, "z_score": -3.1123 } ] }, { "gene": "P2RX2", "ensembl_id": "ENSG00000187848", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "purinergic receptor P2X 2 [Source:HGNC Symbol,Acc:HGNC:15459]", "omim_id": "600844", "functional_summary": "P2X2 channels are localized to the sperm midpiece, where ATP activation of these channels increases Ca2+ influx (21831833).", "localization": "flagella, Nucleus, Lysosomes", "functional_category": "Metabolism, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.1831833E7", "complex_components": ["CHRNA3", "P2RX2"], "pfam_ids": "PF00864", "domain_descriptions": ["P2X purinoreceptor", "P2X2 purinoceptor", "P2X purinoreceptor extracellular domain superfamily", "ATP P2X receptor", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000187848", "synonym": "DFNA41, P2X2", "ortholog_mouse": "P2rx2", "ortholog_xenopus": "p2rx2", "ortholog_zebrafish": "p2rx2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.1891, "sd_percent_ciliated": 5.7887, "z_score": 0.8699 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.391, "sd_percent_ciliated": 0.391, "z_score": 0.391 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8525, "sd_percent_ciliated": -1.8525, "z_score": -1.8525 } ] }, { "gene": "P2RY14", "ensembl_id": "ENSG00000174944", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "purinergic receptor P2Y14 [Source:HGNC Symbol,Acc:HGNC:16442]", "functional_summary": "Neuro l ciliary GPCR", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27770595, 31116684", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "P2Y14 purinoceptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000174944", "synonym": "GPR105, KIAA0001", "ortholog_mouse": "P2ry14", "ortholog_xenopus": "p2ry14", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.4384, "sd_percent_ciliated": 4.3836, "z_score": 0.9001 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.43, "sd_percent_ciliated": 1.43, "z_score": 1.43 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.5187, "sd_percent_ciliated": -6.5187, "z_score": -6.5187 } ] }, { "gene": "P3R3URF-PIK3R3", "ensembl_id": "ENSG00000278139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "P3R3URF-PIK3R3 readthrough [Source:HGNC Symbol,Acc:HGNC:54999]", "functional_summary": "P3R3URF-PIK3R3 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF16454", "PF00017"], "domain_descriptions": ["SH2 domain", "PI3K regulatory subunit p85-related ", "inter-SH2 domain", "PI3K p85 subunit", "C-terminal SH2 domain", "PI3K p85 subunit", "N-terminal SH2 domain", "SH2 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000278139", "screens": {} }, { "gene": "PA2G4", "ensembl_id": "ENSG00000170515", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "proliferation-associated 2G4 [Source:HGNC Symbol,Acc:HGNC:8550]", "omim_id": "602145", "functional_summary": "Pa2G4 is essential for proper ciliogenesis and synchronized movement of cilia in multiciliated cells (MCCs) and the gastrocoel roof plate (GRP). Pa2G4 morphant MCCs exhibit defective basal body docking to the surface as a result of compromised Rac1 activity, apical actin network formation, and immature distal appendage generation. Interestingly, the regions that include the R -binding domain and the C-terminus of Pa2G4 are necessary for ciliogenesis in both MCCs and GRP cells(39496919).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.9496919E7", "complex_components": ["NPM1", "PA2G4", "E2F1", "HDAC2", "RB1", "HSPA8", "STUB1", "ILF3"], "pfam_ids": "PF00557", "domain_descriptions": ["Peptidase M24", "PA2G4 family", "Peptidase M24A", "methionine aminopeptidase", "subfamily 2", "binding site", "Creatinase/aminopeptidase-like", "Proliferation-associated protein 2G4/ARX1", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000170515", "synonym": "EBP1, ITAF45", "ortholog_mouse": "Pa2g4", "ortholog_c_elegans": "W08E12.7", "ortholog_xenopus": "pa2g4", "ortholog_zebrafish": "pa2g4a, pa2g4b", "ortholog_drosophila": "CG10576", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.8061, "sd_percent_ciliated": 20.0009, "z_score": 1.0658, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 23.6, "sd_percent_ciliated": 23.6, "z_score": 23.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2345, "sd_percent_ciliated": -3.2345, "z_score": -3.2345, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PACRG", "ensembl_id": "ENSG00000112530", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "parkin coregulated [Source:HGNC Symbol,Acc:HGNC:19152]", "omim_id": "608427", "functional_summary": "Interacts with Rib72, FAP252, and FAP20 to regulate ciliary motility (27770595). Required for proper activation of dynein-driven microtubule sliding and for the assembly of regulatory components. Mutations lead to reduced assembly of inner-arm dynein IDA b, the beak-MIP structures and cause severe motility defects (31116684).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0683896E7", "complex_components": ["MEIG1", "PACRG"], "pfam_ids": "PF10274", "domain_descriptions": "Parkin co-regulated protein", "string_link": "https://string-db.org/network/9606/ENSG00000112530", "synonym": "BUG21, FLJ32724, GLUP, HAK005771, PARK2CRG, PF12", "ortholog_mouse": "Pacrg", "ortholog_c_elegans": "pcrg-1", "ortholog_xenopus": "pacrg", "ortholog_zebrafish": "pacrg", "ortholog_drosophila": "CG15120, CG17349", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.5401, "sd_percent_ciliated": 1.4989, "z_score": -0.4203 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.54, "sd_percent_ciliated": 1.54, "z_score": 1.54 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8143, "sd_percent_ciliated": -2.8143, "z_score": -2.8143 } ] }, { "gene": "PACS1", "ensembl_id": "ENSG00000175115", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphofurin acidic cluster sorting protein 1 [Source:HGNC Symbol,Acc:HGNC:30032]", "omim_id": "607492", "functional_summary": "Casein ki se 2 (CK2)-mediated phosphorylation of three critical serine residues within a cluster of acidic amino acids in nephrocystin mediates PACS-1 binding, and is essential for colocalization of nephrocystin with PACS-1 at the base of cilia.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "1.6308564E7", "complex_components": ["PACS1", "PKD2", "AP1G1", "FURIN"], "pfam_ids": "PF10254", "domain_descriptions": "Phosphofurin acidic cluster sorting protein 1", "string_link": "https://string-db.org/network/9606/ENSG00000175115", "synonym": "FLJ10209, KIAA1175", "ortholog_mouse": "Pacs1", "ortholog_c_elegans": "pacs-1", "ortholog_xenopus": "pacs1", "ortholog_zebrafish": "pacs1a", "ortholog_drosophila": "Pacs", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.4549, "sd_percent_ciliated": 6.3002, "z_score": -0.6729, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.74, "sd_percent_ciliated": 5.74, "z_score": 5.74, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1545, "sd_percent_ciliated": -1.1545, "z_score": -1.1545, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PACSIN1", "ensembl_id": "ENSG00000124507", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "protein kinase C and casein kinase substrate in neurons 1 [Source:HGNC Symbol,Acc:HGNC:8570]", "omim_id": "606512", "functional_summary": "Promotes mother centriole to basal body transition at early stages in ciliogenesis. Required for the establishment of an extracellular membrane channel, through interaction with EHD1 to form the membrane tubules that connect the developing cilium to the cell surface. Regulates actin and microtubule cytoskeleton assembly (30683896).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "30683896, 23235565", "complex_components": ["PACSIN1", "PICK1", "Ehd1", "Ehd2", "Ehd3", "Ehd4"], "pfam_ids": ["PF14604", "PF00611"], "domain_descriptions": ["FCH domain", "SH3 domain", "AH/BAR domain superfamily", "F-BAR domain", "PACSIN1/PACSIN2", "SH3 domain", "SH3-like domain superfamily", "PACSIN1", "F-BAR"], "string_link": "https://string-db.org/network/9606/ENSG00000124507", "synonym": "SDPI", "ortholog_mouse": "Pacsin1", "ortholog_c_elegans": "sdpn-1", "ortholog_xenopus": "pacsin1", "ortholog_zebrafish": "pacsin1a, pacsin1b", "ortholog_drosophila": "Synd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.3482, "sd_percent_ciliated": 3.0831, "z_score": 0.1622 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.6602, "sd_percent_ciliated": -6.6602, "z_score": -6.6602 } ] }, { "gene": "PACSIN2", "ensembl_id": "ENSG00000100266", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "protein kinase C and casein kinase substrate in neurons 2 [Source:HGNC Symbol,Acc:HGNC:8571]", "omim_id": "604960", "functional_summary": "Promotes mother centriole to basal body transition at early stages in ciliogenesis. Required for the establishment of an extracellular membrane channel, through interaction with EHD1 to form the membrane tubules that connect the developing cilium to the cell surface. Regulates actin and microtubule cytoskeleton assembly (30683896). Modulates primary cilium length in kidney epithelial cells and contributes to normal kidney tubular development/structure and repair (23235565).", "localization": "basal body ,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "17314247, 22855525 , 30683896", "complex_components": ["PACSIN2", "PICK1", "Ehd1", "Ehd2", "Ehd3", "Ehd4"], "pfam_ids": ["PF00611", "PF14604"], "domain_descriptions": ["FCH domain", "SH3 domain", "AH/BAR domain superfamily", "F-BAR domain", "PACSIN1/PACSIN2", "SH3 domain", "SH3-like domain superfamily", "PACSIN2", "F-BAR domain"], "string_link": "https://string-db.org/network/9606/ENSG00000100266", "synonym": "SDPII", "ortholog_mouse": "Pacsin2", "ortholog_c_elegans": "sdpn-1", "ortholog_xenopus": "pacsin2", "ortholog_zebrafish": "pacsin2", "ortholog_drosophila": "Synd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.6124, "sd_percent_ciliated": 11.6296, "z_score": -0.775 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.0927, "sd_percent_ciliated": -7.0927, "z_score": -7.0927 } ] }, { "gene": "PAFAH1B1", "ensembl_id": "ENSG00000007168", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Source:HGNC Symbol,Acc:HGNC:8574]", "omim_id": "601545", "functional_summary": "Also known as LIS1. It may regulate outer dynein arm activity and ciliary beating in the trachea. Essential role in cytoplasmic dynein regulation, mitosis and neuro l migration. Interacts with NudC(17314247). Regulator of cytoplasmic dynein and alters its microtubule-binding affinity (22855525).", "localization": "cilia, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15324661, 18070914, 25144710, 20138861", "complex_components": ["PAFAH1B1", "PAFAH1B2", "PAFAH1B3"], "pfam_ids": ["PF08513", "PF00400"], "domain_descriptions": ["WD40 repeat", "LIS1 homology motif", "WD40/YVTN repeat-like-containing domain superfamily", "Dynein regulator LIS1", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "LIS1", "N-terminal", "WD repeat LIS1/nudF dynein regulation"], "string_link": "https://string-db.org/network/9606/ENSG00000007168", "synonym": "LIS1, MDCR, MDS, NUDF, PAFAH", "ortholog_mouse": "Pafah1b1", "ortholog_c_elegans": "lis-1", "ortholog_xenopus": "pafah1b1", "ortholog_zebrafish": "pafah1b1a, pafah1b1b", "ortholog_drosophila": "Lis-1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.7807, "sd_percent_ciliated": 4.866, "z_score": 0.4569 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.73, "sd_percent_ciliated": 2.73, "z_score": 2.73 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.326, "sd_percent_ciliated": -4.326, "z_score": -4.326 } ] }, { "gene": "PAK6", "ensembl_id": "ENSG00000137843", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "p21 (RAC1) activated kinase 6 [Source:HGNC Symbol;Acc:HGNC:16061]", "omim_id": "608110", "functional_summary": "We confirmed that endogenous PAK6 localizes at both the centrosome and the cilium, and positively regulates ciliogenesis not only in tumor cells but also in neurons and astrocytes(39419978).", "localization": "cilia, centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.9419978E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000137843", "synonym": "PAK5", "ortholog_mouse": "Pak5, Pak6", "ortholog_c_elegans": "pak-2", "ortholog_xenopus": "pak5, pak6", "ortholog_zebrafish": "pak5, pak6b", "ortholog_drosophila": "mbt", "screens": [] }, { "gene": "PALS1", "ensembl_id": "ENSG00000072415", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "protein associated with LIN7 1, MAGUK p55 family member [Source:HGNC Symbol;Acc:HGNC:18669]", "omim_id": "606958", "functional_summary": "PALS1 localizes to the ciliary base(35673984).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5673984E7", "complex_components": ["CRB1", "PALS1", "PATJ", "MPP4", "AMOT", "ARHGAP17", "CAPZA1", "CAPZB", "CD2AP", "SH3KBP1", "AMOTL1", "AMOTL2", "MPDZ", "MPP7", "CRB3", "PARD3", "PARD6A", "PRKCI", "YWHAZ", "Lin7b", "Patj", "NF2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000072415", "synonym": "FLJ12615; MPP5", "ortholog_mouse": "Pals1", "ortholog_c_elegans": "magu-2", "ortholog_xenopus": "pals1", "ortholog_zebrafish": "pals1a, pals1b", "ortholog_drosophila": "sdt", "screens": {} }, { "gene": "PAM", "ensembl_id": "ENSG00000145730", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "peptidylglycine alpha-amidating monooxygenase [Source:HGNC Symbol,Acc:HGNC:8596]", "omim_id": "170270", "functional_summary": "PAM also regulates ciliogenesis in vertebrates, pla ria and chlorophyte algae, and is required for the stability of actin-based microvilli(30879092).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.0879092E7", "complex_components": ["Atp7a", "PAM"], "pfam_ids": ["PF03712", "PF01436", "PF01082"], "domain_descriptions": ["Copper type II", "ascorbate-dependent monooxygenase", "N-terminal", "Peptidylglycine alpha-hydroxylating monooxygenase/peptidyl-hydroxyglycine alpha-amidating lyase", "NHL repeat", "PHM/PNGase F domain superfamily", "Six-bladed beta-propeller", "TolB-like", "Copper type II", "ascorbate-dependent monooxygenase", "histidine-cluster-2 conserved site", "Copper type II", "ascorbate-dependent monooxygenase-like", "C-terminal", "Copper type II", "ascorbate-dependent monooxygenase", "histidine-cluster-1 conserved site", "Copper type II ascorbate-dependent monooxygenase", "C-terminal", "Copper type II", "ascorbate-dependent monooxygenase", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000145730", "synonym": "PAL, PAM-1, PHM", "ortholog_mouse": "Pam", "ortholog_c_elegans": "pamn-1, pgal-1", "ortholog_xenopus": "pam", "ortholog_zebrafish": "pam", "ortholog_drosophila": "Pal1, Pal2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.1335, "z_score": 0.2019, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 51.9403, "z_score": 1.6878, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.8867 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.823, "z_score": 0.823, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.823 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2117, "z_score": -0.2117, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.2117 } ] }, { "gene": "PAM16", "ensembl_id": "ENSG00000282228", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "presequence translocase associated motor 16 [Source:HGNC Symbol,Acc:HGNC:29679]", "omim_id": "614336", "functional_summary": "Mutations in the PAM16 gene cause Spondylometaphyseal Dysplasia (PMID: 24786642).", "localization": "Ciliary associated gene, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "24786642 ,24786642", "complex_components": ["DNAJC19", "PAM16"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000282228", "synonym": "MAGMAS, TIM16, TIMM16", "ciliopathy": "Spondylometaphyseal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pam16", "ortholog_c_elegans": "F45G2.8", "ortholog_xenopus": "pam16", "ortholog_zebrafish": "pam16", "ortholog_drosophila": "blp, CG1409", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 10.1, "sd_percent_ciliated": 10.1, "z_score": 10.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.778, "sd_percent_ciliated": -5.778, "z_score": -5.778, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PAQR5", "ensembl_id": "ENSG00000137819", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "progestin and adipoQ receptor family member 5 [Source:HGNC Symbol,Acc:HGNC:29645]", "omim_id": "607781", "functional_summary": "Also involved in progesterone sig ling, maybe controlling cilia stability or motility (19715581).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9715581E7", "complex_components": {}, "pfam_ids": "PF03006", "domain_descriptions": "AdipoR/Haemolysin-III-related", "string_link": "https://string-db.org/network/9606/ENSG00000137819", "synonym": "FLJ20190, MPRG", "ortholog_mouse": "Paqr5", "ortholog_xenopus": "paqr5", "ortholog_zebrafish": "paqr5a, paqr5b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.014, "sd_percent_ciliated": -1.014, "z_score": -1.014, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PAQR8", "ensembl_id": "ENSG00000170915", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "progestin and adipoQ receptor family member 8 [Source:HGNC Symbol,Acc:HGNC:15708]", "omim_id": "607780", "functional_summary": "Likely mediates rapid progesterone sig ling at the cilia(19715581).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9715581E7", "complex_components": {}, "pfam_ids": "PF03006", "domain_descriptions": "AdipoR/Haemolysin-III-related", "string_link": "https://string-db.org/network/9606/ENSG00000170915", "synonym": "C6ORF33, LMPB1, MPRB", "ortholog_mouse": "Paqr8", "ortholog_c_elegans": "K11C4.2", "ortholog_xenopus": "paqr8", "ortholog_zebrafish": "paqr8", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.12, "sd_percent_ciliated": 1.12, "z_score": 1.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.371, "sd_percent_ciliated": 1.371, "z_score": 1.371, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PARD3", "ensembl_id": "ENSG00000148498", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "par-3 family cell polarity regulator [Source:HGNC Symbol,Acc:HGNC:16051]", "omim_id": "606745", "functional_summary": "Also called PAR3. Interacts with Par6 and aPKC to form a polarity complex that regulates the stability of the ciliary axoneme (15324661). It is required for the elongation of primary cilia, possibly by facilitating anterograde transport of cargo. Interacts with Kif3a, anterograde motor for IFT (18070914, 25144710). PAR3 is also required for apical localisation of centrosome and may also be involved in the proper orientation of the axoneme (20138861).", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.5324661E7", "complex_components": ["CDC42", "PARD3", "PARD6A", "PRKCZ", "CDH5", "CTNNB1", "ARHGAP17", "PRKCI", "PARD6B", "RAC1", "KIF3A", "KIF3B", "CRB3", "PALS1", "PATJ", "YWHAZ", "PLCB1", "PLCB3", "ECT2", "HOOK2", "GPSM2", "INSC"], "pfam_ids": ["PF00595", "PF12053"], "domain_descriptions": ["PDZ domain", "Par3/HAL", "N-terminal", "PDZ superfamily", "Partitioning defective 3 homolog"], "string_link": "https://string-db.org/network/9606/ENSG00000148498", "synonym": "ASIP, BAZ, BAZOOKA, PAR3, PARD3A, PPP1R118", "ortholog_mouse": "a, Pard3", "ortholog_c_elegans": "par-3", "ortholog_xenopus": "pard3", "ortholog_zebrafish": "asip1, asip2b, pard3aa, pard3ab", "ortholog_drosophila": "baz", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.2425, "sd_percent_ciliated": 3.5199, "z_score": -0.5775, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.44, "sd_percent_ciliated": 3.44, "z_score": 3.44, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.1649, "sd_percent_ciliated": -7.1649, "z_score": -7.1649, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PARD6A", "ensembl_id": "ENSG00000102981", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "par-6 family cell polarity regulator alpha [Source:HGNC Symbol,Acc:HGNC:15943]", "omim_id": "607484", "functional_summary": "Interacts with Par3 and aPKC to form a polarity complex that regulates the stability of the ciliary axoneme (15324661)", "localization": "cilia, basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "32312818, 29946172, 20398886", "complex_components": ["CDC42", "PARD3", "PARD6A", "PRKCZ", "CDH5", "PRKCI", "RAC1", "KIF3A", "KIF3B", "CRB3", "PALS1", "PATJ", "YWHAZ", "TGFBR1", "TGFBR2", "PLCB1", "PLCB3", "PARD3B", "ECT2", "HOOK2"], "pfam_ids": ["PF00595", "PF00564"], "domain_descriptions": ["PDZ domain", "PDZ superfamily", "Partitioning defective 6 homolog protein", "PB1 domain", "Partitioning defective protein 6", "PB1 domain", "PB1-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000102981", "synonym": "PAR-6, PAR-6A, PAR6ALPHA, TAX40, TIP-40", "ortholog_mouse": "Pard6a", "ortholog_c_elegans": "par-6", "ortholog_zebrafish": "pard6a", "ortholog_drosophila": "par-6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.2121, "sd_percent_ciliated": 4.7215, "z_score": -0.3389 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.106, "sd_percent_ciliated": 0.106, "z_score": 0.106 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2469, "sd_percent_ciliated": 0.2469, "z_score": 0.2469 } ] }, { "gene": "PARK7", "ensembl_id": "ENSG00000116288", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Parkinsonism associated deglycase [Source:HGNC Symbol,Acc:HGNC:16369]", "omim_id": "602533", "functional_summary": "PARK7 localized to flagella (25613900)", "localization": "flagella, Cytosol, Nucleus, Mitochondria", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.56139E7", "complex_components": ["PARK7", "SNCA", "PINK1", "PRKN", "AR", "EFCAB6", "SLC18A2"], "pfam_ids": "PF01965", "domain_descriptions": ["DJ-1/PfpI", "Protein/nucleic acid deglycase DJ-1", "Class I glutamine amidotransferase-like", "Protein/nucleic acid deglycase"], "string_link": "https://string-db.org/network/9606/ENSG00000116288", "synonym": "DJ-1, DJ1, GATD2", "ortholog_mouse": "Park7", "ortholog_c_elegans": "djr-1.1, djr-1.2", "ortholog_xenopus": "park7", "ortholog_zebrafish": "park7", "ortholog_drosophila": "DJ-1α, dj-1β", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 51.2145, "sd_percent_ciliated": 3.6682, "z_score": 1.5999, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.73, "sd_percent_ciliated": 4.73, "z_score": 4.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.286, "sd_percent_ciliated": 0.286, "z_score": 0.286, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PATJ", "ensembl_id": "ENSG00000132849", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "PATJ crumbs cell polarity complex component [Source:HGNC Symbol,Acc:HGNC:28881]", "omim_id": "603199", "functional_summary": "The function of PATJ regulating HDAC7-dependent cilia formation does not depend on its canonical interaction partner, Pals1, indicating a new role of PATJ, which is distinct from its function in the Crumbs complex.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.7878054E7", "complex_components": ["CRB1", "PALS1", "PATJ", "AMOT", "ARHGAP17", "CAPZA1", "CAPZB", "CD2AP", "SH3KBP1", "AMOTL1", "AMOTL2", "MPDZ", "MPP7", "CRB3", "PARD3", "PARD6A", "PRKCI", "YWHAZ", "NF2"], "pfam_ids": ["PF09045", "PF00595"], "domain_descriptions": ["PDZ domain", "L27 domain", "L27-2", "PDZ superfamily", "L27 domain superfamily", "PDZ domain-containing scaffold protein"], "string_link": "https://string-db.org/network/9606/ENSG00000132849", "synonym": "CIPP, INADL", "ortholog_mouse": "Patj", "ortholog_c_elegans": "mpz-1", "ortholog_xenopus": "patj", "ortholog_zebrafish": "patj", "ortholog_drosophila": "inaD, Patj", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.719, "sd_percent_ciliated": 0.719, "z_score": 0.719, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PAWR", "ensembl_id": "ENSG00000177425", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pro-apoptotic WT1 regulator [Source:HGNC Symbol,Acc:HGNC:8614]", "omim_id": "601936", "functional_summary": "PAWR has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["BACE1", "PAWR", "PRKCZ", "SQSTM1", "AR"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000177425", "synonym": "PAR-4, PAR4", "ortholog_mouse": "Pawr", "ortholog_xenopus": "pawr", "ortholog_zebrafish": "pawr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.6214, "sd_percent_ciliated": 2.0782, "z_score": -0.6528 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.132, "sd_percent_ciliated": 0.132, "z_score": 0.132 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3108, "sd_percent_ciliated": -0.3108, "z_score": -0.3108 } ] }, { "gene": "PAX2", "ensembl_id": "ENSG00000075891", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "paired box 2 [Source:HGNC Symbol,Acc:HGNC:8616]", "omim_id": "167409", "functional_summary": "PAX2 have interactions of with BBS proteins and PAX2 localize , at least partially, with g-tubulin within centrosomes (18000879). ,", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "1.8000879E7", "complex_components": ["EYA1", "PAX2", "TLX1"], "pfam_ids": ["PF00292", "PF12403"], "domain_descriptions": ["Paired domain", "Homedomain-like superfamily", "Paired-box protein 2 C-terminal", "Winged helix-like DNA-binding domain superfamily", "Paired DNA-binding domain", "PAX family"], "string_link": "https://string-db.org/network/9606/ENSG00000075891", "synonym": "PAX-2", "ortholog_mouse": "Pax2", "ortholog_c_elegans": "egl-38, pax-2", "ortholog_xenopus": "pax2", "ortholog_zebrafish": "pax2a, pax2b", "ortholog_drosophila": "sv", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.6966, "sd_percent_ciliated": 15.4984, "z_score": 0.3256, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.115, "sd_percent_ciliated": 0.115, "z_score": 0.115, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5002, "sd_percent_ciliated": -0.5002, "z_score": -0.5002, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PAX6", "ensembl_id": "ENSG00000007372", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "paired box 6 [Source:HGNC Symbol,Acc:HGNC:8620]", "omim_id": "607108", "functional_summary": "Pax6 have the presence of primary cilia in amacrine cells of adult primates(34241625) and Pax6 controls centriole maturation in cortical progenitors through Odf2(25352170).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth, Transcription regulation", "reference": "34241625 , 25352170", "complex_components": ["PAX6", "SOX2"], "pfam_ids": ["PF00046", "PF00292"], "domain_descriptions": ["Homeodomain", "Paired domain", "Homedomain-like superfamily", "Homeobox", "conserved site", "Winged helix-like DNA-binding domain superfamily", "PAX family", "Paired DNA-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000007372", "synonym": "AN, AN1, AN2, D11S812E, WAGR", "ortholog_mouse": "Pax6", "ortholog_c_elegans": "vab-3", "ortholog_xenopus": "pax6", "ortholog_zebrafish": "pax6a, pax6b", "ortholog_drosophila": "toy", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.4167, "sd_percent_ciliated": 6.8746, "z_score": -0.3141, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.679, "sd_percent_ciliated": 0.679, "z_score": 0.679, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.8842, "sd_percent_ciliated": -10.8842, "z_score": -10.8842, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PAX7", "ensembl_id": "ENSG00000009709", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "paired box 7 [Source:HGNC Symbol,Acc:HGNC:8621]", "omim_id": "167410", "functional_summary": "Myf5-Arl3-/- mice develop grossly the same as WT mice. Intriguingly, mechanical stimulation-induced muscle hypertrophy or myoblast differentiation is abrogated in Myf5-Arl3-/- and Pax7-Arl3-/- mice or primary isolated Myf5-Arl3-/- and Pax7-Ift88-/- myoblasts, likely due to defective cilia-mediated Hedgehog (Hh) sig ling ( 35671424).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "3.5671424E7", "complex_components": {}, "pfam_ids": ["PF12360", "PF00046", "PF00292"], "domain_descriptions": ["Homeodomain", "Paired domain", "OAR domain", "Homedomain-like superfamily", "Homeobox", "conserved site", "Paired box protein 7", "C-terminal", "Winged helix-like DNA-binding domain superfamily", "Paired DNA-binding domain", "PAX family"], "string_link": "https://string-db.org/network/9606/ENSG00000009709", "synonym": "HUP1", "ortholog_mouse": "Pax7", "ortholog_c_elegans": "pax-3", "ortholog_xenopus": "pax7", "ortholog_zebrafish": "pax7a, pax7b", "ortholog_drosophila": "gsb, gsb-n, prd", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.6059, "z_score": 0.6616, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.6506, "z_score": 2.1374, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.1903 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.633, "z_score": 0.633, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.633 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1374, "z_score": -2.1374, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.1374 } ] }, { "gene": "PCARE", "ensembl_id": "ENSG00000179270", "overexpression_effects": "Longer cilia", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "photoreceptor cilium actin regulator [Source:HGNC Symbol,Acc:HGNC:34383]", "omim_id": "613425", "functional_summary": "Also called C2ORF71. Predomi ntly expressed in the reti . Important for photoreceptor outer segment morphogenesis and visual function in zebrafish (29946172). Interacts with WASF3 and recruits it to the primary cilium, coexpression results in expansion of the ciliary tip (32312818). Mutations are associated with retinitis pigmentosa (20398886). Arp2/3 complex activator. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. Ectopic coexpression of PCARE and WASF3 in ciliated cells results in the remarkable expansion of the ciliary tip. This process was disrupted by small interfering RNA (siRNA)-based down-regulation of an actin regulator, by pharmacological inhibition of actin polymerization, and by the expression of PCARE harboring a retinal dystrophy-associated missense mutation. (32312818)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "14570705, 11138007, 11487575, 28883094, 20398884, 32312818", "complex_components": {}, "pfam_ids": "PF15449", "domain_descriptions": "Photoreceptor cilium actin regulator", "string_link": "https://string-db.org/network/9606/ENSG00000179270", "synonym": "C2ORF71, FLJ34931, RP54", "ortholog_mouse": "Pcare", "ortholog_xenopus": "pcare", "ortholog_zebrafish": "pcare1, pcare2", "screens": {} }, { "gene": "PCDH15", "ensembl_id": "ENSG00000150275", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "protocadherin related 15 [Source:HGNC Symbol,Acc:HGNC:14674]", "omim_id": "605514", "functional_summary": "Pcdh15a and Itga8 are apically localized in zebrafish hair cells, including kinocilia, where they colocalize at ciliary tips and are required for proper ciliogenesis and kinociliary morphology. Loss of either protein leads to shortened or abnormal kinocilia and mislocalization of both proteins, highlighting their interdependent roles at the ciliary compartment(PMID: 28883094).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8883094E7", "complex_components": {}, "pfam_ids": ["PF23206", "PF00028", "PF18432"], "domain_descriptions": ["Cadherin-like", "Cadherin-like superfamily", "Cadherin conserved site", "Extracellular cadherin domain superfamily", "Extracellular cadherin domain", "Cadherin domain-containing protein", "Protocadherin-15 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000150275", "synonym": "CDHR15, DFNB23, USH1F", "ortholog_mouse": "Pcdh15", "ortholog_c_elegans": "cdh-5", "ortholog_xenopus": "pcdh15", "ortholog_zebrafish": "pcdh15a, pcdh15b", "ortholog_drosophila": "Cad99C", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.3583, "sd_percent_ciliated": 1.3116, "z_score": 1.2538 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.4892, "sd_percent_ciliated": -7.4892, "z_score": -7.4892 } ] }, { "gene": "PCDHB15", "ensembl_id": "ENSG00000113248", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protocadherin beta 15 [Source:HGNC Symbol,Acc:HGNC:8686]", "omim_id": "606341", "functional_summary": "PCDHB15 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000113248", "synonym": "PCDH-BETA15", "ortholog_mouse": "Pcdhb22", "screens": {} }, { "gene": "PCDHB16", "ensembl_id": "ENSG00000291684", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protocadherin beta 16 [Source:HGNC Symbol,Acc:HGNC:14546]", "omim_id": "606345", "functional_summary": "Pcdhb16 is in connecting cilia and outer segment disks of photoreceptors(18279309).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.8279309E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000291684", "synonym": "KIAA1621, ME1, PCDH-BETA16, PCDH3X, PCDHB8A", "ortholog_mouse": "Me1, Pcdhb17", "ortholog_c_elegans": "men-1", "ortholog_xenopus": "me1", "ortholog_zebrafish": "me1", "ortholog_drosophila": "Cad96Cb, Men", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.9383, "sd_percent_ciliated": 0.023, "z_score": -0.0086, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5536, "sd_percent_ciliated": 0.5536, "z_score": 0.5536, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PCM1", "ensembl_id": "ENSG00000078674", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "pericentriolar material 1 [Source:HGNC Symbol,Acc:HGNC:8727]", "omim_id": "600299", "functional_summary": "Centriolar satellite protein/component that serves as a scaffold to target proteins to centrosome during centrosome maturation. When phosphorylated, it recruits Plk1 to the pericentriolar matrix before mitotic entry (23345402). Involved in the formation of primary cilia by associating with CEP290 and BBSome during the ciliogenesis: required for ciliary localisation of Rab8. Role in the recruitment of major centrosomal proteins required for the formation of the non-motile primary cilium (18772192, 31023719). Depletion reduces ciliogenesis (21985783). Its localisation is dependent on BBS4, mislocalisation leads to deanchoring of centrosomal (15107855). Required for focal ciliary integrity (33214552)", "localization": "basal body ,cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Protein processing & maturation, Transition zone", "reference": "22031837, 15337773, 30054381 ,33214552, 32402286", "complex_components": ["BBS4", "CEP131", "PCM1", "HOOK2", "RAB8A", "MAP1LC3A", "OFD1"], "pfam_ids": "PF15717", "domain_descriptions": ["Pericentriolar material 1 protein", "Pericentriolar material 1 protein", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000078674", "synonym": "PTC4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pcm1", "ortholog_xenopus": "pcm1", "ortholog_zebrafish": "pcm1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.8918, "z_score": -1.6794, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.9915, "z_score": -2.3041, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.6116 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.99, "z_score": 5.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 5.99 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0838, "z_score": -3.0838, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.0838 } ] }, { "gene": "PCNA", "ensembl_id": "ENSG00000132646", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proliferating cell nuclear antigen [Source:HGNC Symbol,Acc:HGNC:8729]", "omim_id": "176740", "functional_summary": "Mutations in the PCNA gene cause Ataxia-telangiectasia-like Disorder (PMID: 24911150).", "localization": "Ciliary associated gene, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "24911150 ,24911150", "complex_components": ["MLH1", "PCNA", "PMS1", "MSH2", "MSH6", "PMS2", "POLA1", "POLA2", "POLD1", "POLD2", "POLD3", "POLD4", "PRIM1", "PRIM2", "RFC1", "RFC2", "RFC3", "RFC4", "RFC5", "CCNB1", "CCNB2", "CCND1", "CDK1", "CDKN1A", "CDK2", "CDK4", "CCND3", "CDK5", "EXO1", "DNMT1", "EHMT2", "KIN", "RPA1", "PCLAF", "XRCC5", "XRCC6", "RPA2", "RPA3", "TOP1", "TOP2A", "LIG1", "PARP1", "POLE", "POLE2", "POLE3", "POLE4", "EP300", "ING1", "DHX9", "CHTF18", "GADD45A", "GADD45B", "GADD45G", "DDX11", "DSCC1", "ESCO1", "WDHD1", "DNTTIP2", "H2AC20", "H2BC21", "DONSON", "MCM2", "MCM7", "TICRR", "ERCC1", "ERCC2", "ERCC3", "ERCC5", "GTF2H1", "XPA", "HDAC1", "KAT5", "UHRF1", "USP7"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000132646", "ciliopathy": "Ataxia-telangiectasia-like Disorder", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pcna", "ortholog_c_elegans": "pcn-1", "ortholog_xenopus": "pcna", "ortholog_zebrafish": "pcna", "ortholog_drosophila": "PCNA, PCNA2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.1779, "sd_percent_ciliated": 1.8055, "z_score": 0.7474 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 10.6, "sd_percent_ciliated": 10.6, "z_score": 10.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -14.4174, "sd_percent_ciliated": -14.4174, "z_score": -14.4174 } ] }, { "gene": "PCNT", "ensembl_id": "ENSG00000160299", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "pericentrin [Source:HGNC Symbol,Acc:HGNC:16068]", "omim_id": "605925", "functional_summary": "Mediates microtubule organization (nucleation and anchoring) (22031837). Form a complex with intraflagellar transport proteins and polycystin-2, required for primary cilia assembly and motile cilia. Recruits protein complexes involved in cilia assembly and calcium sig ling to centriole (15337773). Interacts with SYNE-2 to form a complex important for ciliogenesis and outer segment formation during reti l development (30054381)", "localization": "cilia, flagella,basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "2.1670265E7", "complex_components": ["Ift20", "Ift57", "Ift88", "Pcnt", "Pkd2", "IFT20", "IFT57", "IFT88", "PCNT", "PKD2"], "pfam_ids": "PF10495", "domain_descriptions": ["Pericentrin/AKAP-450 centrosomal targeting domain", "A-kinase anchor protein 9/Pericentrin"], "string_link": "https://string-db.org/network/9606/ENSG00000160299", "synonym": "KEN, KIAA0402, PCN, PCNT2, PCNTB, SCKL4", "ortholog_mouse": "Pcnt", "ortholog_xenopus": "pcnt", "ortholog_zebrafish": "pcnt", "ortholog_drosophila": "Plp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.8963, "sd_percent_ciliated": 20.7581, "z_score": 0.8344 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.321, "sd_percent_ciliated": 0.321, "z_score": 0.321 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.4604, "sd_percent_ciliated": -5.4604, "z_score": -5.4604 } ] }, { "gene": "PDCD6", "ensembl_id": "ENSG00000249915", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "programmed cell death 6 [Source:HGNC Symbol,Acc:HGNC:8765]", "omim_id": "601057", "functional_summary": "ESCRT-related protein (PDCD6) might mediate ectosome release and thereby influence flagellar shortening in Chlamydomo s(27866888).", "localization": "flagella", "functional_category": "T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7866888E7", "complex_components": ["HNRNPA2B1", "PDCD6", "PTGES3", "PEF1", "CUL3", "KLHL12", "MVB12B", "PDCD6IP", "TSG101", "VPS28", "VPS37A", "VPS37B", "VPS37C", "VPS37D"], "pfam_ids": ["PF13499", "PF13202", "PF13405", "PF13833"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Peflin/Sorcin Calcium-Binding"], "string_link": "https://string-db.org/network/9606/ENSG00000249915", "synonym": "ALG-2, PEF1B", "ortholog_mouse": "Pdcd6", "ortholog_c_elegans": "M04F3.4", "ortholog_xenopus": "pdcd6", "ortholog_zebrafish": "pdcd6", "ortholog_drosophila": "Alg-2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.7752, "sd_percent_ciliated": 10.9026, "z_score": 0.4563 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.02, "sd_percent_ciliated": 3.02, "z_score": 3.02 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0538, "sd_percent_ciliated": -0.0538, "z_score": -0.0538 } ] }, { "gene": "PDCD6IP", "ensembl_id": "ENSG00000170248", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "programmed cell death 6 interacting protein [Source:HGNC Symbol,Acc:HGNC:8766]", "omim_id": "608074", "functional_summary": "In a knockout mouse model of Alix, defined overt structural changes in the epithelium of the choroid plexus and in the ependyma, such as asymmetrical cell shape and size, misplacement and abnormal beating of cilia, blebbing of the microvilli (27336173).PDCD6IP localized to basal body (25613900)", "localization": "basal body, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27336173 , 25613900", "complex_components": ["MVB12B", "PDCD6", "PDCD6IP", "TSG101", "VPS28", "VPS37A", "VPS37B", "VPS37C", "VPS37D", "CD63", "SDCBP", "SDC1", "CAV1", "OCLN"], "pfam_ids": ["PF03097", "PF13949"], "domain_descriptions": ["BRO1 domain", "ALIX V-shaped domain", "BRO1 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000170248", "synonym": "AIP1, ALIX, HP95", "ortholog_mouse": "Pdcd6ip", "ortholog_c_elegans": "alx-1", "ortholog_xenopus": "pdcd6ip", "ortholog_zebrafish": "pdcd6ip", "ortholog_drosophila": "ALiX", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.1881, "sd_percent_ciliated": 5.6283, "z_score": -0.463, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.38, "sd_percent_ciliated": 2.38, "z_score": 2.38, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0467, "sd_percent_ciliated": -4.0467, "z_score": -4.0467, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDE11A", "ensembl_id": "ENSG00000128655", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 11A [Source:HGNC Symbol,Acc:HGNC:8773]", "omim_id": "604961", "functional_summary": "PDE11A has localized in basal body.", "localization": "cilia,basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF01590", "PF00233"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "GAF domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "GAF-like domain superfamily", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000128655", "ortholog_mouse": "Pde11a", "ortholog_zebrafish": "pde11a, pde11al", "ortholog_drosophila": "Pde11", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.3958, "sd_percent_ciliated": 9.9301, "z_score": 0.168, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4788, "sd_percent_ciliated": -0.4788, "z_score": -0.4788, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDE4B", "ensembl_id": "ENSG00000184588", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 4B [Source:HGNC Symbol,Acc:HGNC:8781]", "omim_id": "600127", "functional_summary": "PDE4B has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DISC1", "PDE4B", "HTT", "NGFR", "PDE4D"], "pfam_ids": ["PF00233", "PF18100"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily", "Phosphodiesterase 4 upstream conserved regions (UCR)"], "string_link": "https://string-db.org/network/9606/ENSG00000184588", "synonym": "DPDE4", "ortholog_mouse": "Pde4b", "ortholog_c_elegans": "pde-4", "ortholog_xenopus": "pde4b", "ortholog_zebrafish": "pde4ba, pde4bb", "ortholog_drosophila": "Pde4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.8852, "sd_percent_ciliated": 0.6767, "z_score": -0.2573 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.779, "sd_percent_ciliated": 0.779, "z_score": 0.779 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.533, "sd_percent_ciliated": -1.533, "z_score": -1.533 } ] }, { "gene": "PDE4C", "ensembl_id": "ENSG00000105650", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 4C [Source:HGNC Symbol,Acc:HGNC:8782]", "omim_id": "600128", "functional_summary": "Catabolizes cAMP, located in re l primary cilia. Component of the AKAP150 complex, it promotes the hydrolysis of cAMP to negatively regulate cAMP sig ling (21670265).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "26321862, 29118501, 30998820", "complex_components": ["NGFR", "PDE4C"], "pfam_ids": ["PF00233", "PF18100"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily", "Phosphodiesterase 4 upstream conserved regions (UCR)"], "string_link": "https://string-db.org/network/9606/ENSG00000105650", "synonym": "DPDE1, PDE21", "ortholog_mouse": "Pde4c", "ortholog_c_elegans": "pde-4", "ortholog_xenopus": "pde4c", "ortholog_zebrafish": "pde4ca, pde4cb", "ortholog_drosophila": "Pde4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.393, "sd_percent_ciliated": 5.8401, "z_score": -0.317, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.785, "sd_percent_ciliated": 0.785, "z_score": 0.785, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.553, "sd_percent_ciliated": -2.553, "z_score": -2.553, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDE4D", "ensembl_id": "ENSG00000113448", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 4D [Source:HGNC Symbol,Acc:HGNC:8783]", "omim_id": "600129", "functional_summary": "PDE4D has localized in primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AKAP12", "PDE4D", "PRKACA", "ADCY2", "AKAP5", "ARRB2", "RXFP1", "AKAP9", "KCNQ1", "AKAP6", "NGFR", "PDE4A", "PDE4B", "RACK1"], "pfam_ids": ["PF18100", "PF00233"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily", "Phosphodiesterase 4 upstream conserved regions (UCR)", "HD/PDEase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000113448", "synonym": "DPDE3", "ortholog_mouse": "Pde4d", "ortholog_c_elegans": "pde-4", "ortholog_xenopus": "pde4d", "ortholog_zebrafish": "pde4d", "ortholog_drosophila": "Pde4", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2, "z_score": 0.5349, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.8182, "z_score": 2.2788, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 9.6424 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.87, "z_score": 3.87, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.87 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.302, "z_score": 0.302, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.302 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6535, "z_score": -0.6535, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.6535 } ] }, { "gene": "PDE5A", "ensembl_id": "ENSG00000138735", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 5A [Source:HGNC Symbol,Acc:HGNC:8784]", "omim_id": "603310", "functional_summary": "PDE5A has localized in basal body.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PDE5A", "IRAG1", "ITPR1", "PRKG1", "AIPL1", "MSH5"], "pfam_ids": ["PF01590", "PF00233"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "GAF domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "GAF-like domain superfamily", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000138735", "ortholog_mouse": "Pde5a", "ortholog_xenopus": "pde5a", "ortholog_zebrafish": "pde5aa, pde5ab", "ortholog_drosophila": "Pde11", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.0094, "sd_percent_ciliated": 5.1337, "z_score": 0.8481 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.321, "sd_percent_ciliated": 0.321, "z_score": 0.321 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6577, "sd_percent_ciliated": -1.6577, "z_score": -1.6577 } ] }, { "gene": "PDE6A", "ensembl_id": "ENSG00000132915", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 6A [Source:HGNC Symbol,Acc:HGNC:8785]", "omim_id": "180071", "functional_summary": "Also known as RP43. Mutations have been associated with autosomal recessive retinitis pigmentosa (26321862, 29118501), and increase intracellular cGMP triggering cell death most likely through a calcium/sodium imbalance (30998820).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "30998820, 27588261, 18849587, 21039428", "complex_components": ["AIPL1", "PDE6A", "PDE6B", "PDE6G", "GNAT1", "PDE6D"], "pfam_ids": ["PF01590", "PF00233"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "GAF domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "GAF-like domain superfamily", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000132915", "synonym": "PDEA, RP43", "ortholog_mouse": "Pde6a", "ortholog_xenopus": "pde6a", "ortholog_zebrafish": "pde6a", "ortholog_drosophila": "Pde6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.8997, "sd_percent_ciliated": 6.9439, "z_score": -0.7402 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.457, "sd_percent_ciliated": 0.457, "z_score": 0.457 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.1951, "sd_percent_ciliated": -4.1951, "z_score": -4.1951 } ] }, { "gene": "PDE6B", "ensembl_id": "ENSG00000133256", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 6B [Source:HGNC Symbol,Acc:HGNC:8786]", "omim_id": "180072", "functional_summary": "Also known as RP40. Mutations have been associated with autosomal recessive rod-cone dystrophy and increase intracellular cGMP triggering cell death most likely through a calcium/sodium imbalance (30998820, 27588261).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "23150559, 24166846, 32055034, 8394174, 18854872", "complex_components": ["AIPL1", "PDE6A", "PDE6B", "PDE6G", "GNAT1", "PDE6D"], "pfam_ids": ["PF00233", "PF01590"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "GAF domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "GAF-like domain superfamily", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000133256", "synonym": "CSNB3, CSNBAD2, PDEB, RD1, RP40", "ortholog_mouse": "Pde6b", "ortholog_xenopus": "pde6b", "ortholog_zebrafish": "pde6b", "ortholog_drosophila": "Pde6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.6539, "sd_percent_ciliated": 11.4295, "z_score": -0.2854 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.767, "sd_percent_ciliated": 0.767, "z_score": 0.767 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.979, "sd_percent_ciliated": -2.979, "z_score": -2.979 } ] }, { "gene": "PDE6C", "ensembl_id": "ENSG00000095464", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 6C [Source:HGNC Symbol,Acc:HGNC:8787]", "omim_id": "600827", "functional_summary": "Spectrum of mechanisms of missense PDE6C mutations in achromatopsia including catalytic defects, protein mislocalization, or a specific sequence of proteolytic degradation (25461672).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "25461672, 19615668 ,19615668", "complex_components": ["AIPL1", "PDE6C", "PDE6H", "PDE6D"], "pfam_ids": ["PF00233", "PF01590"], "domain_descriptions": ["3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain", "GAF domain", "HD/PDEase domain", "3'5'-cyclic nucleotide phosphodiesterase", "3'5'-cyclic nucleotide phosphodiesterase", "conserved site", "GAF-like domain superfamily", "3'5'-cyclic nucleotide phosphodiesterase", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000095464", "synonym": "ACHM5, COD4, PDEA2", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pde6c", "ortholog_xenopus": "pde6c", "ortholog_zebrafish": "pde6c", "ortholog_drosophila": "Pde6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 48.0359, "sd_percent_ciliated": 12.8288, "z_score": 1.2148, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.516, "sd_percent_ciliated": 0.516, "z_score": 0.516, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6546, "sd_percent_ciliated": -0.6546, "z_score": -0.6546, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDE6D", "ensembl_id": "ENSG00000156973", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 6D [Source:HGNC Symbol,Acc:HGNC:8788]", "omim_id": "602676", "functional_summary": "Interacts with ARL13B, INPP5E and CEP164 in a functio l network involved in nephronophthisis and Joubert syndrome. Required for ciliary targeting of full-length prenylated INPP5E (23150559). Joubert Syndrome disease gene (24166846, 32055034).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "30573647, 20655036, 24166846, 30423442 ,24166846, 30423442", "complex_components": ["INPP5E", "PDE6D", "RPGR", "FBXL20", "FBXL2", "UBL3", "FAM219A", "NIM1K", "PDE6A", "PDE6B", "PDE6C", "KRAS"], "pfam_ids": "PF05351", "domain_descriptions": ["GMP phosphodiesterase", "delta subunit", "Immunoglobulin E-set", "Retinal rod rhodopsin-sensitive cGMP 3'", "5'-cyclic phosphodiesterase", "delta subunit", "GMP phosphodiesterase", "delta subunit superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000156973", "synonym": "JBTS22", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pde6d", "ortholog_c_elegans": "pdl-1", "ortholog_xenopus": "pde6d", "ortholog_zebrafish": "pde6d", "ortholog_drosophila": "PrBP", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.7126, "sd_percent_ciliated": 9.8466, "z_score": -0.2783 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.03, "sd_percent_ciliated": 9.03, "z_score": 9.03 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.7056, "sd_percent_ciliated": -8.7056, "z_score": -8.7056 } ] }, { "gene": "PDE6G", "ensembl_id": "ENSG00000185527", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphodiesterase 6G [Source:HGNC Symbol,Acc:HGNC:8789]", "omim_id": "180073", "functional_summary": "Localised to rod outer segment by ARL13B (30573647). Encodes for the inhibitory gamma subunit of rod photoreceptor cyclic GMP- phosphodiesterase. Mutations are associated with retinitis pigmentosa (20655036).", "localization": "basal body ,cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "20440071, 23055499, 20655036", "complex_components": ["AIPL1", "PDE6A", "PDE6B", "PDE6G", "GNAT1"], "pfam_ids": "PF04868", "domain_descriptions": ["Retinal cGMP phosphodiesterase", "gamma subunit", "Retinal cGMP phosphodiesterase", "gamma subunit superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000185527", "synonym": "PDEG, RP57", "ortholog_mouse": "Pde6g", "ortholog_xenopus": "pde6g", "ortholog_zebrafish": "pde6gb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.2051, "sd_percent_ciliated": 2.6471, "z_score": -1.5513 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.237, "sd_percent_ciliated": 0.237, "z_score": 0.237 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.6195, "sd_percent_ciliated": -6.6195, "z_score": -6.6195 } ] }, { "gene": "PDGFA", "ensembl_id": "ENSG00000197461", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "platelet derived growth factor subunit A [Source:HGNC Symbol,Acc:HGNC:8799]", "omim_id": "173430", "functional_summary": "PDGF-AA activates PDGFR伪 in the primary cilium of NIH 3T3 fibroblasts, followed by mitogenic sig ling through Akt and the Mek1/2-Erk1/2 pathway(16243034).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.6243034E7", "complex_components": {}, "pfam_ids": ["PF00341", "PF04692"], "domain_descriptions": ["PDGF/VEGF domain", "Platelet-derived growth factor", "N-terminal", "Platelet-derived growth factor", "conserved site", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000197461", "synonym": "PDGF-A, PDGF1", "ortholog_mouse": "Pdgfa", "ortholog_c_elegans": "pvf-1", "ortholog_xenopus": "pdgfa", "ortholog_zebrafish": "pdgfaa, pdgfab", "ortholog_drosophila": "Pvf1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.5619, "sd_percent_ciliated": 3.2986, "z_score": 0.1881, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4, "sd_percent_ciliated": 4, "z_score": 4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2839, "sd_percent_ciliated": 0.2839, "z_score": 0.2839, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDGFRA", "ensembl_id": "ENSG00000134853", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "platelet derived growth factor receptor alpha [Source:HGNC Symbol,Acc:HGNC:8803]", "omim_id": "173490", "functional_summary": "PDGFRA has localized in primary cilia", "localization": "cilia, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CRK", "CRKL", "PDGFRA", "RAPGEF1", "PIK3R1", "PLCG1", "PTPN11", "GRB2", "TNK2", "ERRFI1"], "pfam_ids": ["PF00047", "PF07714", "PF07679"], "domain_descriptions": ["Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin-like beta-sandwich domain", "Immunoglobulin-like fold", "Immunoglobulin-like domain superfamily", "Platelet-derived growth factor receptor-like protein", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "receptor class III", "conserved site", "Immunoglobulin subtype 2", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Platelet-derived growth factor receptor alpha", "Receptor Tyrosine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000134853", "synonym": "CD140A, GAS9, PDGFR2", "ortholog_mouse": "Pdgfra", "ortholog_c_elegans": "ver-1", "ortholog_xenopus": "pdgfra", "ortholog_zebrafish": "pdgfra", "ortholog_drosophila": "Pvr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.2838, "sd_percent_ciliated": 1.6537, "z_score": -0.209, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12.7, "sd_percent_ciliated": 12.7, "z_score": 12.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1484, "sd_percent_ciliated": -3.1484, "z_score": -3.1484, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDIA6", "ensembl_id": "ENSG00000143870", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "protein disulfide isomerase family A member 6 [Source:HGNC Symbol,Acc:HGNC:30168]", "omim_id": "611099", "functional_summary": "PDIA6 has localized in cilia.", "localization": "cilia, Endoplasmic", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ACE", "HSPA2", "PDIA6"], "pfam_ids": ["PF24541", "PF00085"], "domain_descriptions": ["Protein disulfide-isomerase", "thioredoxin-like domain", "Thioredoxin domain", "Thioredoxin", "conserved site", "Thioredoxin-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000143870", "synonym": "ERP5, P5, TXNDC7", "ortholog_mouse": "Pdia6", "ortholog_c_elegans": "pdi-6, Y49E10.4", "ortholog_xenopus": "pdia6", "ortholog_zebrafish": "pdia6", "ortholog_drosophila": "CaBP1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.384, "sd_percent_ciliated": 7.3401, "z_score": -0.0758, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.53, "sd_percent_ciliated": 7.53, "z_score": 7.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2179, "sd_percent_ciliated": -0.2179, "z_score": -0.2179, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PDLIM3", "ensembl_id": "ENSG00000154553", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "PDZ and LIM domain 3 [Source:HGNC Symbol,Acc:HGNC:20767]", "omim_id": "605889", "functional_summary": "PDLIM3 is required for SHH pathway activation in MB cells. PDLIM3 can bind with cholesterol via the PDZ domain , PDLIM3 localizes in primary cilia and promotes ciliogenesis by tethering cholesterol in the cilium(36813922).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.6813922E7", "complex_components": {}, "pfam_ids": ["PF00412", "PF15936", "PF00595"], "domain_descriptions": ["PDZ domain", "Zinc finger", "LIM-type", "Zasp-like motif", "PDZ and LIM domain protein 1-4/Zasp-like", "middle domain", "PDZ superfamily", "PDZ and LIM domain-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000154553", "synonym": "ALP", "ortholog_mouse": "Pdlim3", "ortholog_xenopus": "pdlim3", "ortholog_zebrafish": "pdlim3a, pdlim3b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.0869, "sd_percent_ciliated": 4.8673, "z_score": -0.4752 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.49, "sd_percent_ciliated": 1.49, "z_score": 1.49 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0595, "sd_percent_ciliated": 0.0595, "z_score": 0.0595 } ] }, { "gene": "PDLIM5", "ensembl_id": "ENSG00000163110", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "PDZ and LIM domain 5 [Source:HGNC Symbol,Acc:HGNC:17468]", "omim_id": "605904", "functional_summary": "PDLIM5 is functio lly involved in MCHR1鈥恑nduced shortening of cilia length mediated by actin polymerization(34485842).", "localization": "cilia, basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development, Cilia length regulation", "reference": "3.4485842E7", "complex_components": ["PDLIM5", "TUBB2A", "TUBB2B"], "pfam_ids": ["PF00412", "PF00595"], "domain_descriptions": ["PDZ domain", "Zinc finger", "LIM-type", "PDZ superfamily", "PDZ and LIM domain-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000163110", "synonym": "ENH, LIM", "ortholog_mouse": "Pdlim5", "ortholog_c_elegans": "alp-1", "ortholog_xenopus": "pdlim5", "ortholog_zebrafish": "pdlim5a, pdlim5b", "ortholog_drosophila": "Zasp52", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.6434, "sd_percent_ciliated": 3.3395, "z_score": 0.6826 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.6815, "sd_percent_ciliated": 1.6815, "z_score": 1.6815 } ] }, { "gene": "PDPK1", "ensembl_id": "ENSG00000140992", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "3-phosphoinositide dependent protein kinase 1 [Source:HGNC Symbol,Acc:HGNC:8816]", "omim_id": "605213", "functional_summary": "PDPK1 has localized in ciliary tip, primary cilia.", "localization": "cilia, Cytosol, Endosome, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PDPK1", "PRG2", "PRKCD", "PRKCZ", "PPARG"], "pfam_ids": ["PF00069", "PF14593"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "PDPK1 family", "Serine/threonine-protein kinases", "AGC", "PH-like domain superfamily", "PDK1-type", "PH domain"], "string_link": "https://string-db.org/network/9606/ENSG00000140992", "synonym": "PDK1", "ortholog_mouse": "Pdk1, Pdpk1", "ortholog_c_elegans": "pdhk-2, pdk-1", "ortholog_xenopus": "pdk1, pdpk1", "ortholog_zebrafish": "pdk1, pdpk1a, pdpk1b", "ortholog_drosophila": "Pdk, Pdk1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.0572, "sd_percent_ciliated": 0.0538, "z_score": 0.0058 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.5, "sd_percent_ciliated": 1.5, "z_score": 1.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.8593, "sd_percent_ciliated": -3.8593, "z_score": -3.8593 } ] }, { "gene": "PDYN", "ensembl_id": "ENSG00000101327", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prodynorphin [Source:HGNC Symbol,Acc:HGNC:8820]", "functional_summary": "Mutations in the PDYN gene cause Spinocerebellar Ataxia (PMID: 21035104).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1035104E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101327", "synonym": "ADCA, PENKB, SCA23", "ortholog_mouse": "Pdyn", "ortholog_xenopus": "pdyn", "ortholog_zebrafish": "pdyn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.6169, "sd_percent_ciliated": 9.7979, "z_score": -1.6226 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.26, "sd_percent_ciliated": 1.26, "z_score": 1.26 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3397, "sd_percent_ciliated": -3.3397, "z_score": -3.3397 } ] }, { "gene": "PDZD7", "ensembl_id": "ENSG00000186862", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "PDZ domain containing 7 [Source:HGNC Symbol,Acc:HGNC:26257]", "omim_id": "612971", "functional_summary": "Reti l disease modifier in patients with digenic Usher syndrome. Homolog of whirlin (USH2D) and harmonin (USH1C). Part of the Usher protein complex (20440071). It positions and stabilises GPR98 (23055499).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "23110211, 26167768, 20440071", "complex_components": ["ADGRV1", "PDZD7", "USH2A", "WHRN", "MYO7A"], "pfam_ids": "PF00595", "domain_descriptions": ["PDZ domain", "PDZ superfamily", "PDZD7", "Harmonin N-like domain", "Sensory Perception USH2 Complex Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000186862", "synonym": "BA108L7.8, DFNB57, FLJ23209, PDZK7", "ortholog_mouse": "Pdzd7", "ortholog_xenopus": "pdzd7", "ortholog_zebrafish": "pdzd7a, pdzd7b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.223, "sd_percent_ciliated": 0.223, "z_score": 0.223, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PEBP1", "ensembl_id": "ENSG00000089220", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphatidylethanolamine binding protein 1 [Source:HGNC Symbol,Acc:HGNC:8630]", "omim_id": "604591", "functional_summary": "Rkip (Raf-1 ki se inhibitory protein)prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration (21685394).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1685394E7", "complex_components": {}, "pfam_ids": "PF01161", "domain_descriptions": ["Phosphatidylethanolamine-binding", "conserved site", "Phosphatidylethanolamine-binding protein", "Phosphatidylethanolamine-binding protein", "eukaryotic", "PEBP-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000089220", "synonym": "HCNP, PBP, PEBP, RKIP", "ortholog_mouse": "Pbp2, Pebp1", "ortholog_c_elegans": "F40A3.3", "ortholog_xenopus": "pebp1, pebp1.2", "ortholog_zebrafish": "pebp1", "ortholog_drosophila": "CG10298, CG17919, CG6180, CG7054, Pebp1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.41, "sd_percent_ciliated": 3.41, "z_score": 3.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -17.2436, "sd_percent_ciliated": -17.2436, "z_score": -17.2436, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PELI1", "ensembl_id": "ENSG00000197329", "overexpression_effects": "Not Reported", "lof_effects": "Impairment of ciliary disassembly", "percent_ciliated_cells_effects": "Not Reported", "description": "pellino E3 ubiquitin protein ligase 1 [Source:HGNC Symbol,Acc:HGNC:8827]", "omim_id": "614797", "functional_summary": "PELI1 has localized in cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["IRAK1", "IRAK4", "PELI1", "TRAF6", "MYD88", "SMAD6"], "pfam_ids": ["PF20723", "PF04710"], "domain_descriptions": ["Pellino family", "Pellino", "FHA domain", "Pellino", "RING domain"], "string_link": "https://string-db.org/network/9606/ENSG00000197329", "ortholog_mouse": "Peli1", "ortholog_c_elegans": "peli-1", "ortholog_xenopus": "peli1", "ortholog_zebrafish": "peli1a, peli1b", "ortholog_drosophila": "Pli", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.7228, "sd_percent_ciliated": 12.936, "z_score": -0.6405, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.46, "sd_percent_ciliated": 1.46, "z_score": 1.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.959, "sd_percent_ciliated": 0.959, "z_score": 0.959, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PELI2", "ensembl_id": "ENSG00000139946", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pellino E3 ubiquitin protein ligase family member 2 [Source:HGNC Symbol,Acc:HGNC:8828]", "omim_id": "614798", "functional_summary": "PELI2 has localized in basal body.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF04710", "PF20723"], "domain_descriptions": ["Pellino family", "Pellino", "FHA domain", "Pellino", "RING domain"], "string_link": "https://string-db.org/network/9606/ENSG00000139946", "ortholog_mouse": "Peli2", "ortholog_c_elegans": "peli-1", "ortholog_xenopus": "peli2", "ortholog_zebrafish": "peli2", "ortholog_drosophila": "Pli", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.4324, "sd_percent_ciliated": 3.6311, "z_score": 0.5359 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.94, "sd_percent_ciliated": 0.94, "z_score": 0.94 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.0202, "sd_percent_ciliated": -4.0202, "z_score": -4.0202 } ] }, { "gene": "PFKM", "ensembl_id": "ENSG00000152556", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphofructokinase, muscle [Source:HGNC Symbol,Acc:HGNC:8877]", "omim_id": "610681", "functional_summary": "PFKM has localized in flagella.", "localization": "flagella, Cytosol, Endoplasmic", "functional_category": "Metabolism, Reproduction & sperm, Cardiac & muscle development", "reference": "https://www.proteinatlas.org/", "complex_components": ["PFKL", "PFKM", "PFKP"], "pfam_ids": "PF00365", "domain_descriptions": ["Phosphofructokinase domain", "ATP-dependent 6-phosphofructokinase", "eukaryotic-type", "Phosphofructokinase", "conserved site", "ATP-dependent 6-phosphofructokinase", "Phosphofructokinase superfamily", "ATP-dependent 6-phosphofructokinase", "vertebrate-type"], "string_link": "https://string-db.org/network/9606/ENSG00000152556", "synonym": "PFK-1, PFKX, PPP1R122", "ortholog_mouse": "Pfkm", "ortholog_c_elegans": "pfk-1.1", "ortholog_xenopus": "pfkm", "ortholog_zebrafish": "pfkma, pfkmb", "ortholog_drosophila": "Pfk", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.128, "sd_percent_ciliated": 3.0946, "z_score": -0.1068, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0656, "sd_percent_ciliated": 0.0656, "z_score": 0.0656, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1087, "sd_percent_ciliated": -2.1087, "z_score": -2.1087, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PGAM1", "ensembl_id": "ENSG00000171314", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoglycerate mutase 1 [Source:HGNC Symbol,Acc:HGNC:8888]", "omim_id": "172250", "functional_summary": "PGAM1 has localized in flagella.", "localization": "flagella, Cytosol", "functional_category": "Metabolism", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00300", "domain_descriptions": ["Phosphoglycerate/bisphosphoglycerate mutase", "active site", "Phosphoglycerate mutase 1", "Histidine phosphatase superfamily", "clade-1", "Histidine phosphatase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000171314", "synonym": "PGAM-B, PGAMA", "ortholog_mouse": "Pgam1", "ortholog_xenopus": "pgam1", "ortholog_zebrafish": "pgam1a, pgam1b", "ortholog_drosophila": "Pgam1, Pgam2, Pgaml", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.5513, "sd_percent_ciliated": 1.3396, "z_score": -0.2978, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 21.1, "sd_percent_ciliated": 21.1, "z_score": 21.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7148, "sd_percent_ciliated": -3.7148, "z_score": -3.7148, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PGAM4", "ensembl_id": "ENSG00000226784", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoglycerate mutase family member 4 [Source:HGNC Symbol,Acc:HGNC:21731]", "omim_id": "300567", "functional_summary": "PGAM4 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00300", "domain_descriptions": ["Phosphoglycerate/bisphosphoglycerate mutase", "active site", "Phosphoglycerate mutase 1", "Histidine phosphatase superfamily", "clade-1", "Histidine phosphatase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000226784", "synonym": "DJ1000K24.1, PGAM-B, PGAM1, PGAM3", "ortholog_mouse": "Pgam1", "ortholog_xenopus": "pgam1", "ortholog_zebrafish": "pgam1a, pgam1b", "ortholog_drosophila": "Pgam1, Pgam2, Pgaml", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.9319, "sd_percent_ciliated": 1.2183, "z_score": 0.9599 } ] }, { "gene": "PGE2", "overexpression_effects": "Longer cilia", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "functional_summary": "In agreement with animal model studies, cultured mammalian cells deficient in PGE2 signaling also display defective ciliogenesis. The existence of a previously unexplored aspect of human ciliopathies arising from abnormal prostagladin signaling. Addition of exogenous PGE2 increased both cilia length and percentages of ciliated cells in control cells but not in EP4-depleted cells , indicating that EP4 acts downstream of PGE2 signaling during ciliogenesis(25173977).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "2.5173977E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/NA", "screens": [] }, { "gene": "PGK1", "ensembl_id": "ENSG00000102144", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoglycerate kinase 1 [Source:HGNC Symbol,Acc:HGNC:8896]", "omim_id": "311800", "functional_summary": "PGK1 localized to flagella (25613900)", "localization": "flagella, Cytosol", "functional_category": "Metabolism, Viral interactions, Protein processing & maturation", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF00162", "domain_descriptions": ["Phosphoglycerate kinase", "Phosphoglycerate kinase", "N-terminal", "Phosphoglycerate kinase superfamily", "Phosphoglycerate kinase", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000102144", "ortholog_mouse": "Pgk1", "ortholog_c_elegans": "pgk-1", "ortholog_xenopus": "pgk1", "ortholog_zebrafish": "pgk1", "ortholog_drosophila": "Pgk, Pgk2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 56.8601, "sd_percent_ciliated": 8.6769, "z_score": 2.2839 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.99, "sd_percent_ciliated": 4.99, "z_score": 4.99 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6028, "sd_percent_ciliated": -5.6028, "z_score": -5.6028 } ] }, { "gene": "PGK2", "ensembl_id": "ENSG00000170950", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoglycerate kinase 2 [Source:HGNC Symbol,Acc:HGNC:8898]", "omim_id": "172270", "functional_summary": "PGK2 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00162", "domain_descriptions": ["Phosphoglycerate kinase", "Phosphoglycerate kinase", "N-terminal", "Phosphoglycerate kinase", "conserved site", "Phosphoglycerate kinase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000170950", "synonym": "PGK-2, PGKPS", "ortholog_mouse": "Pgk2", "ortholog_c_elegans": "pgk-1", "ortholog_xenopus": "pgk1", "ortholog_zebrafish": "pgk1", "ortholog_drosophila": "Pgk, Pgk2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.1868, "sd_percent_ciliated": 1.1155, "z_score": -0.342, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.321, "sd_percent_ciliated": 0.321, "z_score": 0.321, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0657, "sd_percent_ciliated": -0.0657, "z_score": -0.0657, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PGR", "ensembl_id": "ENSG00000082175", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "progesterone receptor [Source:HGNC Symbol,Acc:HGNC:8910]", "omim_id": "607311", "functional_summary": "PR in ciliated epithelial cells localizes to the lower half of the cilia and not to microvilli, which are positioned at the base between individual cilia (17170211).", "localization": "cilia, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.7170211E7", "complex_components": ["NCOA2", "PGR", "Pias2", "CDC25B", "ANP32A", "NR0B1", "NCOR2", "UBE3A", "RBM23", "RBM39", "PRMT2", "COPS5", "NCOA1", "KAT7", "CTBP1", "LCOR", "RBBP8", "NCOA3", "NONO", "SIN3A", "SFPQ", "TRERF1", "FOLR1", "SRC"], "pfam_ids": ["PF00105", "PF00104", "PF02161"], "domain_descriptions": ["Progesterone receptor", "Nuclear hormone receptor", "ligand-binding domain", "Zinc finger", "nuclear hormone receptor-type", "Nuclear hormone receptor", "Zinc finger", "NHR/GATA-type", "Nuclear hormone receptor-like domain superfamily", "Nuclear hormone receptor family NR3 subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000082175", "synonym": "NR3C3, PR", "ortholog_mouse": "Pgr", "ortholog_xenopus": "LOC116408900, pgr", "ortholog_zebrafish": "pgr", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2857, "z_score": 0.5616, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 52.4093, "z_score": 1.7447, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.5014 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0782, "z_score": 0.0782, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.0782 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.28, "z_score": -8.28, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -8.28 } ] }, { "gene": "PGRMC1", "ensembl_id": "ENSG00000101856", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "progesterone receptor membrane component 1 [Source:HGNC Symbol,Acc:HGNC:16090]", "omim_id": "300435", "functional_summary": "PGRMC1 has localized in flagella.", "localization": "flagella, Endoplasmic, Nucleus", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["PGRMC1", "SCAP"], "pfam_ids": "PF00173", "domain_descriptions": ["Cytochrome b5-like heme/steroid binding domain", "Cytochrome b5-like heme/steroid binding domain superfamily", "MAPR/Neuferricin/Neudesin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000101856", "synonym": "HPR6.6", "ortholog_mouse": "Pgrmc1", "ortholog_c_elegans": "vem-1", "ortholog_xenopus": "pgrmc1", "ortholog_zebrafish": "pgrmc1", "ortholog_drosophila": "MSBP", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.6813, "sd_percent_ciliated": 3.2704, "z_score": -0.8878, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.166, "sd_percent_ciliated": 0.166, "z_score": 0.166, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1471, "sd_percent_ciliated": -0.1471, "z_score": -0.1471, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PGRMC2", "ensembl_id": "ENSG00000164040", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "progesterone receptor membrane component 2 [Source:HGNC Symbol,Acc:HGNC:16089]", "omim_id": "607735", "functional_summary": "BMPR2, PTPRS, and PGRMC2 were involved in cilia formation . Even when cilia were present in these cells, the formation of cELV was significantly abolished in all five (BMPR2, TFRC, F11R, PTPRS, and PGRMC2) knockdown cells (32832346).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "3.2832346E7", "complex_components": {}, "pfam_ids": "PF00173", "domain_descriptions": ["Cytochrome b5-like heme/steroid binding domain", "Cytochrome b5-like heme/steroid binding domain superfamily", "MAPR/Neuferricin/Neudesin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000164040", "synonym": "DG6, PMBP", "ortholog_mouse": "Pgrmc2", "ortholog_c_elegans": "vem-1", "ortholog_xenopus": "pgrmc2", "ortholog_zebrafish": "pgrmc2", "ortholog_drosophila": "MSBP", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.2859, "sd_percent_ciliated": 4.0243, "z_score": 1.0028 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.74, "sd_percent_ciliated": 5.74, "z_score": 5.74 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.5518, "sd_percent_ciliated": -9.5518, "z_score": -9.5518 } ] }, { "gene": "PGS1", "ensembl_id": "ENSG00000087157", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphatidylglycerophosphate synthase 1 [Source:HGNC Symbol,Acc:HGNC:30029]", "omim_id": "614942", "functional_summary": "PGS1 has localized in flagella.", "localization": "flagella, Mitochondria, Lysosomes", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000087157", "synonym": "DKFZP762M186", "ortholog_mouse": "Pgs1", "ortholog_c_elegans": "pgs-1", "ortholog_xenopus": "pgs1", "ortholog_drosophila": "PGS1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.1444, "sd_percent_ciliated": 2.2712, "z_score": 0.6222, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.25, "sd_percent_ciliated": 3.25, "z_score": 3.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5519, "sd_percent_ciliated": -3.5519, "z_score": -3.5519, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PHC1", "ensembl_id": "ENSG00000111752", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "polyhomeotic homolog 1 [Source:HGNC Symbol,Acc:HGNC:3182]", "omim_id": "602978", "functional_summary": "PHC1 localized to flagella (25613900)", "localization": "flagella, Nucleus", "functional_category": "Transcription regulation", "reference": "2.56139E7", "complex_components": ["BMI1", "CBX2", "CBX4", "CBX8", "HSPA1A", "PHC1", "PHC2", "PHC3", "RING1", "RNF2", "SCMH1", "SMARCA5", "YY1", "PCGF2", "SCML1", "CBX6"], "pfam_ids": ["PF16616", "PF21319", "PF00536"], "domain_descriptions": ["Sterile alpha motif domain", "Zinc finger", "FCS-type", "Sterile alpha motif/pointed domain superfamily", "FCS-type zinc finger superfamily", "Polycomb group and chromatin remodeling factors"], "string_link": "https://string-db.org/network/9606/ENSG00000111752", "synonym": "EDR1, HPH1, RAE28", "ortholog_mouse": "Phc1", "ortholog_xenopus": "phc1", "ortholog_zebrafish": "phc1", "ortholog_drosophila": "ph-d, ph-p", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.9411, "sd_percent_ciliated": 11.1025, "z_score": -1.5833 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5473, "sd_percent_ciliated": -1.5473, "z_score": -1.5473 } ] }, { "gene": "PHETA1", "ensembl_id": "ENSG00000198324", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "PH domain containing endocytic trafficking adaptor 1 [Source:HGNC Symbol,Acc:HGNC:26509]", "omim_id": "614239", "functional_summary": "IPIP27A (PHETA1) overexpression rescued the primary cilia defect due to Ocrl1 depletion and the domi nt-negative construct IPIP27A-deltaPH interfered with primary cilia assembly(22228094).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "2.2228094E7", "complex_components": {}, "pfam_ids": "PF00169", "domain_descriptions": ["Pleckstrin homology domain", "PH-like domain superfamily", "PH domain containing protein Boi1/Boi2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000198324", "synonym": "FAM109A, FLJ32356, IPIP27A, SES1", "ortholog_mouse": "Pheta1", "ortholog_xenopus": "pheta1, pheta2", "ortholog_zebrafish": "pheta1, pheta2", "ortholog_drosophila": "IPIP", "screens": {} }, { "gene": "PHETA2", "ensembl_id": "ENSG00000177096", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "PH domain containing endocytic trafficking adaptor 2 [Source:HGNC Symbol,Acc:HGNC:27161]", "omim_id": "614240", "functional_summary": "Loss of pheta1/2 disrupts ciliogenesis in the pronephros( 32152089).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.2152089E7", "complex_components": {}, "pfam_ids": "PF00169", "domain_descriptions": ["Pleckstrin homology domain", "PH-like domain superfamily", "PH domain containing protein Boi1/Boi2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000177096", "synonym": "DKFZP686J07229, FAM109B, IPIP27B, SES2", "ortholog_mouse": "Pheta2", "ortholog_c_elegans": "Y37D8A.25", "ortholog_xenopus": "pheta2", "ortholog_zebrafish": "pheta1, pheta2", "ortholog_drosophila": "IPIP", "screens": {} }, { "gene": "PHLPP2", "ensembl_id": "ENSG00000040199", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "PH domain and leucine rich repeat protein phosphatase 2 [Source:HGNC Symbol,Acc:HGNC:29149]", "omim_id": "611066", "functional_summary": "PHLPP2 has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AKT1", "FANCD2", "FANCI", "PHLPP1", "PHLPP2", "USP1", "WDR48"], "pfam_ids": ["PF00481", "PF13516", "PF23010", "PF13855", "PF00560"], "domain_descriptions": ["Leucine-rich repeat", "PPM-type phosphatase-like domain", "Leucine-rich repeat", "typical subtype", "Leucine-rich repeat domain superfamily", "PPM-type phosphatase-like domain superfamily", "Leucine-rich repeat domain-containing protein", "PHLPP-like", "RA domain"], "string_link": "https://string-db.org/network/9606/ENSG00000040199", "synonym": "KIAA0931, PHLPPL, PPM3B", "ortholog_mouse": "Phlpp2", "ortholog_c_elegans": "phlp-2", "ortholog_xenopus": "phlpp2", "ortholog_zebrafish": "phlpp2", "ortholog_drosophila": "Phlpp", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.11, "sd_percent_ciliated": 1.11, "z_score": 1.11, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2619, "sd_percent_ciliated": -4.2619, "z_score": -4.2619, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PI4KB", "ensembl_id": "ENSG00000143393", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "phosphatidylinositol 4-kinase beta [Source:HGNC Symbol,Acc:HGNC:8984]", "omim_id": "602758", "functional_summary": "Mutations in the PI4KB gene cause Polycystic Kidney Disease (PMID: 34469896).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "34469896 ,34469896", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000143393", "synonym": "PI4K-BETA, PI4K92, PIK4CB", "ciliopathy": "Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pi4kb", "ortholog_c_elegans": "pifk-1", "ortholog_xenopus": "pi4kb", "ortholog_zebrafish": "pi4kb", "ortholog_drosophila": "fwd", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.25, "sd_percent_ciliated": 2.25, "z_score": 2.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6279, "sd_percent_ciliated": -3.6279, "z_score": -3.6279, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PIBF1", "ensembl_id": "ENSG00000083535", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "progesterone immunomodulatory binding factor 1 [Source:HGNC Symbol,Acc:HGNC:23352]", "omim_id": "607532", "functional_summary": "Also known as CEP90. Centriolar satelite protein required for centrosome protein recruitment, centrosomal accumulation of PCM-1 and primary cilia formation, as well as BBS4 recruitment and localisation to the cilium (23110211). Mutations have been identified as cause of the ciliopathies Joubert and Jeune syndromes (26167768).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "20643351, 26901434, 29695797 ,29695797; 32402286", "complex_components": ["KIAA0753", "OFD1", "PIBF1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000083535", "synonym": "C13ORF24, CEP90, PIBF", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pibf1", "ortholog_xenopus": "pibf1", "ortholog_zebrafish": "pibf1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 88.9, "sd_percent_ciliated": 88.9, "z_score": 88.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.6005, "sd_percent_ciliated": -8.6005, "z_score": -8.6005, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PIDD1", "ensembl_id": "ENSG00000177595", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "p53-induced death domain protein 1 [Source:HGNC Symbol,Acc:HGNC:16491]", "omim_id": "605247", "functional_summary": "ANKRD26 recruits PIDD1 to centriolar distal appendages to activate the PIDDosome following centrosome amplification( 33350495).", "localization": "basal body, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transcription regulation", "reference": "3.3350495E7", "complex_components": ["CASP2", "CRADD", "PIDD1", "IKBKG", "RIPK1"], "pfam_ids": ["PF00791", "PF13855", "PF10461", "PF00531"], "domain_descriptions": ["Death domain", "ZU5 domain", "Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Death-like domain superfamily", "Peptidase S68", "pidd", "Leucine-rich repeat domain superfamily", "Leucine-rich repeat domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000177595", "synonym": "DKFZP434D229, LRDD, MGC16925, PIDD", "ortholog_mouse": "Pidd1", "ortholog_xenopus": "pidd1", "ortholog_zebrafish": "pidd1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.05, "sd_percent_ciliated": 2.05, "z_score": 2.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PIERCE1", "ensembl_id": "ENSG00000160345", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "piercer of microtubule wall 1 [Source:HGNC Symbol,Acc:HGNC:28435]", "omim_id": "614502", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": "PF14892", "domain_descriptions": "Piercer of microtubule wall 1/2", "string_link": "https://string-db.org/network/9606/ENSG00000160345", "synonym": "C9ORF116, MGC29761, RBEST47", "ortholog_mouse": "Pierce1", "ortholog_xenopus": "LOC116411510", "ortholog_zebrafish": "pierce1", "ortholog_drosophila": "CG34107", "screens": {} }, { "gene": "PIEZO1", "ensembl_id": "ENSG00000103335", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "piezo type mechanosensitive ion channel component 1 (Er blood group) [Source:HGNC Symbol,Acc:HGNC:28993]", "omim_id": "611184", "functional_summary": "Piezo1 co-localized with primary cilia in mandibular condyle chondrocytes (35279604).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "3.5279604E7", "complex_components": {}, "pfam_ids": ["PF24874", "PF24871", "PF23188", "PF15917", "PF12166"], "domain_descriptions": ["Piezo family", "Piezo non-specific cation channel", "cap domain", "Piezo", "TM25-28", "Piezo", "transmembrane helical unit", "Piezo", "TM1-24", "Piezo", "THU9 and anchor domain"], "string_link": "https://string-db.org/network/9606/ENSG00000103335", "synonym": "FAM38A, KIAA0233", "ortholog_mouse": "Piezo1", "ortholog_c_elegans": "pezo-1", "ortholog_xenopus": "piezo1", "ortholog_zebrafish": "piezo1", "ortholog_drosophila": "Piezo, Pzl", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.602, "sd_percent_ciliated": 0.602, "z_score": 0.602, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PIH1D2", "ensembl_id": "ENSG00000150773", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "PIH1 domain containing 2 [Source:HGNC Symbol,Acc:HGNC:25210]", "functional_summary": "PIH1D2 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,29741156", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000150773", "synonym": "DNAAF15", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pih1d2", "ortholog_xenopus": "pih1d2", "ortholog_zebrafish": "pih1d2", "ortholog_drosophila": "CG4022", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.371, "sd_percent_ciliated": 0.371, "z_score": 0.371, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.6711, "sd_percent_ciliated": -9.6711, "z_score": -9.6711, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PIK3AP1", "ensembl_id": "ENSG00000155629", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoinositide-3-kinase adaptor protein 1 [Source:HGNC Symbol,Acc:HGNC:30034]", "omim_id": "607942", "functional_summary": "PIK3AP1, aslo known as BCAP. Centriolar satellite protein that plays a role as negative regulator of ciliogenesis, specifically initiation (28775150).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "31034465, 24697898, 31941925", "complex_components": {}, "pfam_ids": ["PF14545", "PF18567"], "domain_descriptions": ["Toll/interleukin-1 receptor homology (TIR) domain", "DBB domain", "Toll/interleukin-1 receptor homology (TIR) domain superfamily", "PIK3AP1", "Toll/interleukin-1 receptor domain", "B-cell PI3K Activation and Signaling Adapters"], "string_link": "https://string-db.org/network/9606/ENSG00000155629", "synonym": "BCAP, FLJ35564", "ortholog_mouse": "Pik3ap1", "ortholog_xenopus": "pik3ap1", "ortholog_zebrafish": "pik3ap1", "ortholog_drosophila": "stumps", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.0373, "sd_percent_ciliated": 0.608, "z_score": -1.2082 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.654, "sd_percent_ciliated": 0.654, "z_score": 0.654 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3748, "sd_percent_ciliated": -3.3748, "z_score": -3.3748 } ] }, { "gene": "PIK3C2A", "ensembl_id": "ENSG00000011405", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "No effect", "description": "phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Source:HGNC Symbol,Acc:HGNC:8971]", "omim_id": "603601", "functional_summary": "Mutations cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction (31034465). Critical for the formation of cilia and for receptor mediated endocytosis. Promotes the activation and pericentriolar localisation of Rab11+ vesicles, triggers the Rab8- dependent pathway and translocation of Smo to the primary cilium. Controls the production of PtdIns3P at the endocytic recycling compartment located at the base of the primary cilium (24697898). PI3KC2伪- dependent and VPS34- independent generation of PI3P controls primary cilium- mediated autophagy in response to shear stress (31941925).", "localization": "basal body, cilia, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.7882921E7", "complex_components": ["EGFR", "ERBB2", "PIK3C2A", "PIK3C2B"], "pfam_ids": ["PF00613", "PF00454", "PF00792", "PF00168", "PF00794", "PF00787"], "domain_descriptions": ["C2 domain", "Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain", "Phosphatidylinositol 3-/4-kinase", "catalytic domain", "Phosphoinositide 3-kinase", "accessory (PIK) domain", "Phox homology", "C2 phosphatidylinositol 3-kinase-type domain", "Protein kinase-like domain superfamily", "Phosphatidylinositol kinase", "Armadillo-type fold", "Phosphatidylinositol 3/4-kinase", "conserved site", "Ubiquitin-like domain superfamily", "C2 domain superfamily", "PX domain superfamily", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily", "PI3K-C2-alpha", "catalytic domain", "Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha", "PX domain", "Phosphoinositide 3-kinase", "accessory (PIK) domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000011405", "synonym": "PI3K-C2ALPHA", "ortholog_mouse": "Pik3c2a", "ortholog_c_elegans": "piki-1", "ortholog_xenopus": "pik3c2a", "ortholog_zebrafish": "pik3c2a", "ortholog_drosophila": "Pi3K68D", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.5946, "sd_percent_ciliated": 7.3413, "z_score": 1.0402, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.89, "sd_percent_ciliated": 1.89, "z_score": 1.89, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6675, "sd_percent_ciliated": -2.6675, "z_score": -2.6675, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PIK3CA", "ensembl_id": "ENSG00000121879", "overexpression_effects": "No change", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Source:HGNC Symbol,Acc:HGNC:8975]", "omim_id": "171834", "functional_summary": "PIK3CA localized to cilia", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, ECM & connective tissue", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PIK3CA", "PIK3R1", "PIK3R2", "TRAF6", "NEDD9", "SQSTM1", "ANXA1", "SCGB2A1", "ZG16B", "BPIFA1", "APOA1", "BPIFB1", "MUC5B", "DDC"], "pfam_ids": ["PF00613", "PF02192", "PF00792", "PF00794", "PF00454"], "domain_descriptions": ["Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain", "Phosphatidylinositol 3-/4-kinase", "catalytic domain", "Phosphoinositide 3-kinase", "accessory (PIK) domain", "C2 phosphatidylinositol 3-kinase-type domain", "Phosphatidylinositol 3-kinase", "adaptor-binding domain", "Protein kinase-like domain superfamily", "Phosphatidylinositol kinase", "Armadillo-type fold", "Phosphatidylinositol 3/4-kinase", "conserved site", "Ubiquitin-like domain superfamily", "C2 domain superfamily", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily", "PI3Kalpha", "catalytic domain", "Phosphoinositide 3-kinase", "accessory (PIK) domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000121879", "synonym": "PI3K", "ortholog_mouse": "Pik3ca", "ortholog_c_elegans": "age-1", "ortholog_xenopus": "pik3ca", "ortholog_zebrafish": "pik3ca", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.6976, "z_score": -1.6188, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.9058, "z_score": -2.1933, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.4989 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 9.1, "z_score": 9.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 9.1 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3336, "z_score": -4.3336, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.3336 } ] }, { "gene": "PIK3CD", "ensembl_id": "ENSG00000171608", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Source:HGNC Symbol,Acc:HGNC:8977]", "omim_id": "602839", "functional_summary": "PIK3CD has localized in ciliary tip, primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PIK3CD", "PIK3R1", "PIK3R2"], "pfam_ids": ["PF00794", "PF00454", "PF00792", "PF00613", "PF02192"], "domain_descriptions": ["Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain", "Phosphatidylinositol 3-/4-kinase", "catalytic domain", "Phosphoinositide 3-kinase", "accessory (PIK) domain", "C2 phosphatidylinositol 3-kinase-type domain", "Phosphatidylinositol 3-kinase", "adaptor-binding domain", "Protein kinase-like domain superfamily", "Phosphatidylinositol kinase", "Armadillo-type fold", "Phosphatidylinositol 3/4-kinase", "conserved site", "Ubiquitin-like domain superfamily", "C2 domain superfamily", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily", "PI3Kdelta", "catalytic domain", "Phosphoinositide 3-kinase", "accessory (PIK) domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000171608", "synonym": "P110D", "ortholog_mouse": "Pik3cd", "ortholog_c_elegans": "age-1", "ortholog_zebrafish": "pik3cd", "ortholog_drosophila": "Pi3K92E", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.0101, "sd_percent_ciliated": 7.7171, "z_score": -0.3634 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.347, "sd_percent_ciliated": 0.347, "z_score": 0.347 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0091, "sd_percent_ciliated": -3.0091, "z_score": -3.0091 } ] }, { "gene": "PIK3R3", "ensembl_id": "ENSG00000117461", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoinositide-3-kinase regulatory subunit 3 [Source:HGNC Symbol,Acc:HGNC:8981]", "omim_id": "606076", "functional_summary": "PIK3R3 has localized in flagella.", "localization": "flagella, Cytosol", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00017", "PF16454"], "domain_descriptions": ["SH2 domain", "PI3K regulatory subunit p85-related ", "inter-SH2 domain", "PI3K p85 subunit", "C-terminal SH2 domain", "PI3K p85 subunit", "N-terminal SH2 domain", "SH2 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000117461", "synonym": "P55", "ortholog_mouse": "Pik3r3", "ortholog_c_elegans": "aap-1", "ortholog_xenopus": "pik3r3", "ortholog_zebrafish": "pik3r3a, pik3r3b", "ortholog_drosophila": "Pi3K21B", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.5701, "z_score": 0.6504, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.25, "z_score": 2.4523, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 5.6592 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.13, "z_score": 2.13, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.13 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3737, "z_score": -6.3737, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.3737 } ] }, { "gene": "PIK3R4", "ensembl_id": "ENSG00000196455", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "No effect", "description": "phosphoinositide-3-kinase regulatory subunit 4 [Source:HGNC Symbol,Acc:HGNC:8982]", "omim_id": "602610", "functional_summary": "Also known as VPS15. Interacts with the golgin GM130 to form a complex and ensure efficient loading of IFT20 in vesicles addressed from the cis-Golgi and transported to the basal body of the cilium (27882921).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "29581457, 30598432", "complex_components": ["PIK3C3", "PIK3R4", "BCL2", "BECN1", "UVRAG", "ATG14", "NRBF2", "SLAMF1"], "pfam_ids": ["PF22956", "PF00400", "PF00069"], "domain_descriptions": ["Protein kinase domain", "WD40 repeat", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Armadillo-like helical", "WD40/YVTN repeat-like-containing domain superfamily", "Armadillo-type fold", "HEAT", "type 2", "WD40-repeat-containing domain superfamily", "Serine/threonine-protein kinase Vps15-like", "VPS15-like", "helical domain"], "string_link": "https://string-db.org/network/9606/ENSG00000196455", "synonym": "P150, VPS15", "ortholog_mouse": "Pik3r4", "ortholog_c_elegans": "vps-15", "ortholog_xenopus": "pik3r4", "ortholog_zebrafish": "pik3r4", "ortholog_drosophila": "Vps15", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.1946, "z_score": 0.5332, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.2495, "z_score": 2.2099, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 10.2156 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.18, "z_score": 4.18, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 4.18 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3142, "z_score": -2.3142, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.3142 } ] }, { "gene": "PINK1", "ensembl_id": "ENSG00000158828", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "No effect", "description": "PTEN induced kinase 1 [Source:HGNC Symbol,Acc:HGNC:14581]", "omim_id": "608309", "functional_summary": "Shortening of primary cilia in PINK1-deficient human cellular and mouse models of familial PD ( 35974013).", "localization": "Ciliary associated gene, Cytosol, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Metabolism, Transcription regulation", "reference": "3.5974013E7", "complex_components": ["PINK1", "RHOT2", "TRAK1", "PARK7", "PRKN"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PINK1", "protein kinase domain", "Mitochondrial Quality Control and Scaffold Kinases"], "string_link": "https://string-db.org/network/9606/ENSG00000158828", "synonym": "BRPK, PARK6", "ortholog_mouse": "Pink1", "ortholog_c_elegans": "pink-1", "ortholog_zebrafish": "pink1", "ortholog_drosophila": "Pink1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.3693, "sd_percent_ciliated": 4.3265, "z_score": 0.0436, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0418, "sd_percent_ciliated": 0.0418, "z_score": 0.0418, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9501, "sd_percent_ciliated": 1.9501, "z_score": 1.9501, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PINLYP", "ensembl_id": "ENSG00000234465", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase A2 inhibitor and LY6/PLAUR domain containing [Source:HGNC Symbol,Acc:HGNC:44206]", "functional_summary": "PINLYP has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF02988", "PF00021"], "domain_descriptions": ["Phospholipase A2 inhibitor", "N-terminal domain", "Ly-6 antigen/uPA receptor-like", "Snake toxin-like superfamily", "CNF-like Phospholipase A2 Inhibitor"], "string_link": "https://string-db.org/network/9606/ENSG00000234465", "ortholog_mouse": "Pinlyp", "ortholog_xenopus": "LOC100488682, LOC100492190, LOC100493190, LOC100494026, LOC100494201, LOC101730430, LOC101731684, LOC101732745, LOC101734259, LOC105946151, LOC108645216, LOC108648118, LOC116412290, LOC116412381, pinlyp, XB5760648, XB5806301", "ortholog_zebrafish": "ly6m5, si:dkey-102g19.3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.673, "sd_percent_ciliated": 0.673, "z_score": 0.673, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PIP4K2A", "ensembl_id": "ENSG00000150867", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [Source:HGNC Symbol,Acc:HGNC:8997]", "omim_id": "603140", "functional_summary": "Phosphorylation of MIF by PIP4K2a is necessary for cilia biogenesis ( 38052787).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8052787E7", "complex_components": {}, "pfam_ids": "PF01504", "domain_descriptions": ["Phosphatidylinositol-4-phosphate 4/5-kinase", "core", "Phosphatidylinositol-4/5-phosphate 5/4-kinase", "Phosphatidylinositol-4-phosphate 4/5-kinase", "C-terminal domain superfamily", "Phosphatidylinositol-4-phosphate 5-kinase", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000150867", "synonym": "PIP5K2A, PIP5KIIA, PIP5KIIALPHA", "ortholog_mouse": "Pip4k2a", "ortholog_c_elegans": "ppk-2", "ortholog_xenopus": "pip4k2a", "ortholog_zebrafish": "pip4k2aa, pip4k2ab", "ortholog_drosophila": "PIP4K", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.932, "sd_percent_ciliated": 0.932, "z_score": 0.932, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1483, "sd_percent_ciliated": -2.1483, "z_score": -2.1483, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PITPNM3", "ensembl_id": "ENSG00000091622", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "PITPNM family member 3 [Source:HGNC Symbol,Acc:HGNC:21043]", "omim_id": "608921", "functional_summary": "Mutations in the PITPNM3 gene cause Cone-Rod Dystrophy (PMID: 8586428, PMID:17377520).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "8586428, 17377520 ,8586428, 17377520", "complex_components": ["PITPNM3", "PTK2B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000091622", "synonym": "ACKR6, CORD5, NIR1, RDGBA3", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pitpnm3", "ortholog_c_elegans": "pitp-1", "ortholog_xenopus": "pitpnm3", "ortholog_zebrafish": "pitpnm3, plrdgb", "ortholog_drosophila": "rdgB", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.553, "sd_percent_ciliated": 0.9718, "z_score": 1.2774 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.529, "sd_percent_ciliated": 0.529, "z_score": 0.529 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.2437, "sd_percent_ciliated": -2.2437, "z_score": -2.2437 } ] }, { "gene": "PITX2", "ensembl_id": "ENSG00000164093", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "paired like homeodomain 2 [Source:HGNC Symbol,Acc:HGNC:9005]", "omim_id": "601542", "functional_summary": "The role of PITX2 in glaucoma may be mediated partly by regulating the expression of CXCL6 and BBS5 and thus affecting immune functions and intraocular pressure ( 27520585).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion, Cardiac & muscle development, Transcription regulation", "reference": "2.7520585E7", "complex_components": ["ASH2L", "KMT2D", "PAXIP1", "PITX2", "RBBP5"], "pfam_ids": ["PF03826", "PF00046"], "domain_descriptions": ["Homeodomain", "OAR domain", "Homedomain-like superfamily", "Homeobox protein Pitx/unc30", "Homeobox", "conserved site", "Homeodomain", "metazoa"], "string_link": "https://string-db.org/network/9606/ENSG00000164093", "synonym": "ARP1, BRX1, IGDS, IHG2, IRID2, OTLX2, RGS, RIEG, RIEG1, RS", "ortholog_mouse": "Pitx2", "ortholog_c_elegans": "unc-30", "ortholog_xenopus": "pitx2", "ortholog_zebrafish": "pitx2", "ortholog_drosophila": "Ptx1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.1942, "z_score": 0.8453, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.4544, "z_score": 2.4771, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.4658 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7357, "z_score": -4.7357, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.7357 } ] }, { "gene": "PJA2", "ensembl_id": "ENSG00000198961", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "praja ring finger ubiquitin ligase 2 [Source:HGNC Symbol,Acc:HGNC:17481]", "omim_id": "619341", "functional_summary": "PJA2 has localized in basal body ,transition zone.", "localization": "cilia,basal body ,transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF13639", "domain_descriptions": ["Zinc finger", "RING-type", "Zinc finger", "RING/FYVE/PHD-type"], "string_link": "https://string-db.org/network/9606/ENSG00000198961", "synonym": "KIAA0438, NEURODAP1, PRAJA2, RNF131", "ortholog_mouse": "Pja2", "ortholog_xenopus": "pja2", "ortholog_zebrafish": "pja2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.2143, "sd_percent_ciliated": 10.0678, "z_score": -0.2175 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3367, "sd_percent_ciliated": -2.3367, "z_score": -2.3367 } ] }, { "gene": "PKD1", "ensembl_id": "ENSG00000008710", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "polycystin 1, transient receptor potential channel interacting [Source:HGNC Symbol,Acc:HGNC:9008]", "omim_id": "601313", "functional_summary": "Also known as PC2. Mutation causes autosomal domi nt polycystic kidney disease (PKD). Dimerizes with PKD2 to form a channel in the ciliary membrane (20392267) and mediate transduction of an extracellular mechanical stimulus into a Ca2+ sig ling response involved in the differentiation of kidney tubular epithelial cells (12514735, 26788466). PC1 inhibits calcium release by reducing PC2-IP3R interaction (26788466). Required for the asymmetric localization of Vangl2 and involved in the establishment of the asymmetric positioning of pla r cell polarity proteins (26245976).", "localization": "cilia, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, ECM & connective tissue", "reference": "21307098, 21307093, 8004675 ,8004675", "complex_components": ["CDH1", "CTNNB1", "PKD1", "FLOT2", "ITGB1", "RAP1A", "ACTN1", "BCAR1", "JUP", "PTK2", "PXN", "SRC", "TLN1", "VCL", "NPHP1", "BBS1", "BBS4", "BBS5", "TTC8", "ARF4", "ASAP1"], "pfam_ids": ["PF01822", "PF08016", "PF02010", "PF20519", "PF00059", "PF00801", "PF01477", "PF13855"], "domain_descriptions": ["GPS motif", "Leucine-rich repeat N-terminal domain", "Polycystic kidney disease type 1 protein", "Cysteine-rich flanking region", "C-terminal", "PKD domain", "PLAT/LH2 domain", "C-type lectin-like", "Leucine-rich repeat", "PKD/REJ-like domain", "Carbohydrate-binding WSC", "Leucine-rich repeat", "typical subtype", "Polycystin cation channel", "Polycystin cation channel", "PKD1/PKD2", "Immunoglobulin-like fold", "REJ domain", "C-type lectin-like/link domain superfamily", "C-type lectin fold", "PKD/Chitinase domain", "Leucine-rich repeat domain superfamily", "PKD domain superfamily", "PLAT/LH2 domain superfamily", "Polycystin-1 like", "PLAT/LH2 domain", "Polycystin domain"], "string_link": "https://string-db.org/network/9606/ENSG00000008710", "synonym": "PBP, PC-1, TRPP1", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pkd1", "ortholog_xenopus": "pkd1", "ortholog_zebrafish": "pkd1a, pkd1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.8448, "sd_percent_ciliated": 2.0703, "z_score": 0.8282 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2483, "sd_percent_ciliated": -1.2483, "z_score": -1.2483 } ] }, { "gene": "PKD1L1", "ensembl_id": "ENSG00000158683", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "polycystin 1 like 1, transient receptor potential channel interacting [Source:HGNC Symbol,Acc:HGNC:18053]", "omim_id": "609721", "functional_summary": "Interacts with Pkd2 to form a complex that functions as the nodal flow sensor in the motile cilia. This interaction is required for left-right patterning (21307098, 21307093)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "8650545, 20392267, 12514735, 26788466, 26245976, 27616478", "complex_components": {}, "pfam_ids": ["PF08016", "PF20519", "PF00801", "PF02010", "PF01477"], "domain_descriptions": ["Polycystin cation channel", "PKD1/PKD2", "Polycystin domain", "PKD domain", "PLAT/LH2 domain", "PKD/REJ-like domain", "Immunoglobulin-like fold", "REJ domain", "PKD/Chitinase domain", "PKD domain superfamily", "PLAT/LH2 domain superfamily", "Polycystin-1 like", "PLAT/LH2 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000158683", "synonym": "PRO19563", "ortholog_mouse": "Pkd1l1", "ortholog_xenopus": "pkd1l1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4383, "sd_percent_ciliated": 7.1113, "z_score": -0.9173 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.367, "sd_percent_ciliated": 0.367, "z_score": 0.367 } ] }, { "gene": "PKD2", "ensembl_id": "ENSG00000118762", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "polycystin 2, transient receptor potential cation channel [Source:HGNC Symbol,Acc:HGNC:9009]", "omim_id": "173910", "functional_summary": "Also known as PC2. Mutation causes autosomal domi nt PKD. Dimerizes with PKD1 to form a channel in the ciliary membrane (20392267) and mediate transduction of an extracellular mechanical stimulus into a Ca2+ sig ling response involved in the differentiation of kidney tubular epithelial cells (12514735, 26788466). PC2 enhances calcium release from the ER by stimulating the activity of the IP3 receptor (26788466). Required for the asymmetric localization of Vangl2 and involved in the establishment of the asymmetric positioning of pla r cell polarity proteins (26245976).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development", "reference": "24336288, 29230552, 7825585, 11438989 ,7825585, 11438989", "complex_components": ["PKD2", "PKHD1", "KIF3A", "PACS1", "ARF1", "ARFIP2", "ARL1", "Ift20", "Ift57", "Ift88", "Pcnt", "Pkd2", "IFT20", "IFT57", "IFT88", "PCNT"], "pfam_ids": ["PF18109", "PF20519", "PF08016", "PF00520"], "domain_descriptions": ["EF-hand domain", "Polycystic kidney disease type 2 protein", "EF-hand domain pair", "Polycystin cation channel", "PKD1/PKD2", "Voltage-dependent channel domain superfamily", "Polycystin domain", "Polycystin", "Ion transport domain"], "string_link": "https://string-db.org/network/9606/ENSG00000118762", "synonym": "PC-2, PC2, PKD4, TRPP2", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pkd2", "ortholog_c_elegans": "pkd-2", "ortholog_xenopus": "pkd2", "ortholog_zebrafish": "pkd2", "ortholog_drosophila": "Pkd2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.8043, "sd_percent_ciliated": 7.3359, "z_score": 1.3079 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.66, "sd_percent_ciliated": 1.66, "z_score": 1.66 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.7138, "sd_percent_ciliated": -1.7138, "z_score": -1.7138 } ] }, { "gene": "PKD2L1", "ensembl_id": "ENSG00000107593", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "polycystin 2 like 1, transient receptor potential cation channel [Source:HGNC Symbol,Acc:HGNC:9011]", "omim_id": "604532", "functional_summary": "PKD1L1-PKD2L1 acts as a ciliary calcium channel controlling ciliary calcium concentration and thereby modifying SMO-activated GLI2 translocation and GLI1 expression (24336288). Plays a role in localization with 尾2- adrenergic receptor (尾2AR) on the neuro l primary cilia (29230552).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "14978161, 15458427, 11898128, 14983006", "complex_components": {}, "pfam_ids": ["PF20519", "PF08016", "PF18109"], "domain_descriptions": ["Polycystic kidney disease type 2 protein", "Polycystin cation channel", "PKD1/PKD2", "Voltage-dependent channel domain superfamily", "Polycystin domain", "Polycystin"], "string_link": "https://string-db.org/network/9606/ENSG00000107593", "synonym": "PCL, PKD2L, PKDL, TRPP3", "ortholog_mouse": "Pkd2l1", "ortholog_c_elegans": "pkd-2", "ortholog_xenopus": "pkd2l1", "ortholog_zebrafish": "pkd2l1", "ortholog_drosophila": "brv1, brv3, Pkd2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.6358, "sd_percent_ciliated": 2.114, "z_score": 0.1971, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6608, "sd_percent_ciliated": -0.6608, "z_score": -0.6608, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PKHD1", "ensembl_id": "ENSG00000170927", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Source:HGNC Symbol,Acc:HGNC:9016]", "omim_id": "606702", "functional_summary": "Also known as FPC. Functio l and/or structural component of primary cilia in kidney tubular cells (14978161). Mutations are involved in utosomal recessive polycystic kidney disease (15458427, 11898128, 14983006). PKHD1 may associate with a common pathway that alters ciliary function and cation channel activity and may act as an intraflagellar motor-binding protein. It also interacts with polycystins, which suggest it could be directly or indirectly involved in a common cystogenic pathway (14983006).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "20393563, 25904332, 33685088, 15698423 ,8307555; 15698423; 33685088", "complex_components": ["PKD2", "PKHD1", "KIF3A"], "pfam_ids": ["PF10162", "PF24606", "PF01833"], "domain_descriptions": ["IPT domain", "Parallel beta-helix repeat", "Pectin lyase fold/virulence factor", "Pectin lyase fold", "Immunoglobulin-like fold", "Immunoglobulin E-set", "G8 domain", "PA14/GLEYA domain", "Fibrocystin", "CEMIP", "beta-helix domain"], "string_link": "https://string-db.org/network/9606/ENSG00000170927", "synonym": "ARPKD, FCYT, FPC, TIGM1", "ciliopathy": "Autosomal Dominant Polycystic Kidney Disease; Autosomal Recessive Polycystic Kidney Disease; Caroli Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pkhd1", "ortholog_xenopus": "pkhd1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.99, "sd_percent_ciliated": 6.5678, "z_score": 0.6034 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.516, "sd_percent_ciliated": 0.516, "z_score": 0.516 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.4604, "sd_percent_ciliated": -8.4604, "z_score": -8.4604 } ] }, { "gene": "PKHD1L1", "ensembl_id": "ENSG00000205038", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "PKHD1 like 1 [Source:HGNC Symbol,Acc:HGNC:20313]", "omim_id": "607843", "functional_summary": "PKHD1L1 has localized in basal body,flagella. We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). ). Ultrastructural analysis using TEM further revealed that Pkhd1l1−/− mouse OFT tissues displayed severely disorganized ciliary axonemes, with microtubule loss and irregular ciliary distribution and orientation, compared to the typical 9+0 microtubule arrangement in wild-type Pkhd1l1+/+ mice (Fig. 3, I and J). Thus, these findings highlight the critical role of ciliary genes in ciliogenesis and their essential function located in cardiac OFT development. (41071877)", "localization": "basal body,flagella, Cytosol, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/, 41071877", "complex_components": {}, "pfam_ids": ["PF01833", "PF24606", "PF10162", "PF07691"], "domain_descriptions": ["IPT domain", "Parallel beta-helix repeat", "Cupredoxin", "Pectin lyase fold/virulence factor", "PA14 domain", "Pectin lyase fold", "Immunoglobulin-like fold", "Immunoglobulin E-set", "G8 domain", "PA14/GLEYA domain", "Fibrocystin", "CEMIP", "beta-helix domain"], "string_link": "https://string-db.org/network/9606/ENSG00000205038", "ciliopathy": "Tetralogy of Fallot (TOF)", "ortholog_mouse": "Pkhd1l1", "ortholog_xenopus": "LOC100486915, pkhd1l1", "ortholog_zebrafish": "pkhd1l1.1, pkhd1l1.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.3183, "sd_percent_ciliated": 8.4538, "z_score": -0.2049 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0262, "sd_percent_ciliated": 0.0262, "z_score": 0.0262 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.7505, "sd_percent_ciliated": -4.7505, "z_score": -4.7505 } ] }, { "gene": "PKN1", "ensembl_id": "ENSG00000123143", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase N1 [Source:HGNC Symbol,Acc:HGNC:9405]", "omim_id": "601032", "functional_summary": "pPRK1/pPRK2 localise to the transition zone of cilia and their co-depletion results in reduced cilia size, impaired planer polarity and impaired cilia associated sig lling(32127582).", "localization": "transition zone, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "3.2127582E7", "complex_components": ["AKAP13", "MAP2K3", "MAP3K20", "MAPK14", "PKN1", "AR", "NCOA2"], "pfam_ids": ["PF00069", "PF02185", "PF00433"], "domain_descriptions": ["C2 domain", "Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "HR1 rho-binding domain", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "C2 domain superfamily", "HR1 repeat superfamily", "Serine/threonine-protein kinase N", "first HR1 domain", "Serine/threonine-protein kinase N1", "second HR1 domain", "Serine/threonine-protein kinase N", "C2 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000123143", "synonym": "DBK, MGC46204, PAK1, PKN, PRK1, PRKCL1", "ortholog_mouse": "Pak1, Pkn1", "ortholog_c_elegans": "pak-1, pkn-1", "ortholog_xenopus": "pak1, pkn1", "ortholog_zebrafish": "pak1, pkn1a, pkn1b", "ortholog_drosophila": "Pak, Pkn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.09, "sd_percent_ciliated": 2.09, "z_score": 2.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0558, "sd_percent_ciliated": -1.0558, "z_score": -1.0558, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PKN2", "ensembl_id": "ENSG00000065243", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase N2 [Source:HGNC Symbol,Acc:HGNC:9406]", "omim_id": "602549", "functional_summary": "pPRK1/pPRK2 localise to the transition zone of cilia and their co-depletion results in reduced cilia size, impaired planer polarity and impaired cilia associated sig lling(32127582).", "localization": "transition zone, cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Cell migration & adhesion, Transition zone", "reference": "3.2127582E7", "complex_components": {}, "pfam_ids": ["PF02185", "PF00069", "PF00433"], "domain_descriptions": ["C2 domain", "HR1 rho-binding domain", "C2 domain superfamily", "HR1 repeat superfamily", "Serine/threonine-protein kinase N", "first HR1 domain", "Serine/threonine-protein kinase N", "C2 domain", "Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000065243", "synonym": "PAK-2, PRK2, PRKCL2, STK7", "ortholog_mouse": "Pkn2", "ortholog_c_elegans": "pkn-1", "ortholog_xenopus": "pkn2", "ortholog_zebrafish": "pkn2a, pkn2b", "ortholog_drosophila": "Pkn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 29.9, "sd_percent_ciliated": 29.9, "z_score": 29.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9374, "sd_percent_ciliated": -2.9374, "z_score": -2.9374, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PLA2G3", "ensembl_id": "ENSG00000100078", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "phospholipase A2 group III [Source:HGNC Symbol,Acc:HGNC:17934]", "omim_id": "611651", "functional_summary": "Negative ciliogenesis regulator. Depletion of PLA2G3 facilitates cilium extension and induces ciliogenesis independent of serum starvation (20393563). Mediator of SREBP1c-induced cilium repression by distorting vesicular trafficking (25904332).", "localization": "transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Transition zone", "reference": "22701722, 23345402, 20393563 ,25904332, 34082797", "complex_components": {}, "pfam_ids": "PF05826", "domain_descriptions": ["Phospholipase A2 domain", "Phospholipase A2", "histidine active site", "Phospholipase A2 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100078", "synonym": "GIII-SPLA2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pla2g3", "ortholog_xenopus": "pla2g3", "ortholog_zebrafish": "pla2g3", "ortholog_drosophila": "CG3009, CG30503, GIIIspla2, sPLA2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.3893, "sd_percent_ciliated": 0.3009, "z_score": 0.4095, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.171, "sd_percent_ciliated": 0.171, "z_score": 0.171, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.36, "sd_percent_ciliated": 0.36, "z_score": 0.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PLCB2", "ensembl_id": "ENSG00000137841", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase C beta 2 [Source:HGNC Symbol,Acc:HGNC:9055]", "omim_id": "604114", "functional_summary": "PLCB2 has localized in basal body.", "localization": "basal body, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["GNA11", "ITPR1", "ITPR3", "PLCB1", "PLCB2", "PLCB3", "STX3", "TRPC3", "TRPC6"], "pfam_ids": ["PF08703", "PF00387", "PF00388", "PF00168", "PF17787", "PF22631"], "domain_descriptions": ["Phospholipase C-beta", "C-terminal domain", "Phospholipase C-beta", "C-terminal domain superfamily", "C2 domain", "Phosphatidylinositol-specific phospholipase C", "X domain", "Phosphoinositide phospholipase C family", "Phospholipase C", "phosphatidylinositol-specific", "Y domain", "EF-hand domain pair", "Phosphatidylinositol-4", "5-bisphosphate phosphodiesterase beta", "PLC-like phosphodiesterase", "TIM beta/alpha-barrel domain superfamily", "1-phosphatidylinositol 4", "5-bisphosphate phosphodiesterase beta-2", "catalytic domain", "C2 domain superfamily", "PLC-beta", "PH domain", "1-phosphatidylinositol 4", "5-bisphosphate phosphodiesterase beta-2", "EF-hand domain", "Phosphoinositide phospholipase C beta 1-4-like", "EF-hand domain"], "string_link": "https://string-db.org/network/9606/ENSG00000137841", "synonym": "FLJ38135", "ortholog_mouse": "Plcb2", "ortholog_xenopus": "plcb2", "ortholog_zebrafish": "plcb2", "ortholog_drosophila": "Plc21C", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.725, "sd_percent_ciliated": 4.9825, "z_score": 0.9348 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.34, "sd_percent_ciliated": 2.34, "z_score": 2.34 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2249, "sd_percent_ciliated": -1.2249, "z_score": -1.2249 } ] }, { "gene": "PLCB3", "ensembl_id": "ENSG00000149782", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase C beta 3 [Source:HGNC Symbol,Acc:HGNC:9056]", "omim_id": "600230", "functional_summary": "PLC尾3 localized to cilia of human differentiated airway epithelia(21245013).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1245013E7", "complex_components": ["GNA11", "ITPR1", "ITPR3", "PLCB1", "PLCB2", "PLCB3", "STX3", "TRPC3", "TRPC6", "PARD3", "PARD6A", "LPAR2", "NHERF2", "CXCR2", "NHERF1", "PDZK1", "SSTR5", "SSTR1", "SSTR2", "SSTR3", "SSTR4", "PTH1R", "CHRM3"], "pfam_ids": ["PF00168", "PF08703", "PF00387", "PF00388", "PF17787", "PF22631"], "domain_descriptions": ["C2 domain", "Phosphatidylinositol-specific phospholipase C", "X domain", "Phosphoinositide phospholipase C family", "Phospholipase C", "phosphatidylinositol-specific", "Y domain", "EF-hand domain pair", "Phospholipase C-beta", "C-terminal domain", "Phosphatidylinositol-4", "5-bisphosphate phosphodiesterase beta", "PLC-like phosphodiesterase", "TIM beta/alpha-barrel domain superfamily", "C2 domain superfamily", "PLC-beta", "PH domain", "Phospholipase C-beta", "C-terminal domain superfamily", "Phosphoinositide phospholipase C beta 1-4-like", "EF-hand domain"], "string_link": "https://string-db.org/network/9606/ENSG00000149782", "ortholog_mouse": "Plcb3", "ortholog_xenopus": "plcb3", "ortholog_zebrafish": "plcb3", "ortholog_drosophila": "Plc21C", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.135, "sd_percent_ciliated": 7.1546, "z_score": -0.8329 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.35, "sd_percent_ciliated": 1.35, "z_score": 1.35 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6316, "sd_percent_ciliated": -1.6316, "z_score": -1.6316 } ] }, { "gene": "PLCB4", "ensembl_id": "ENSG00000101333", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase C beta 4 [Source:HGNC Symbol,Acc:HGNC:9059]", "omim_id": "600810", "functional_summary": "Only one significant GGI was detected in high-Myelomeningocele(MCC) cases, and it was between cilia and Wnt sig ling pathways genes variants (PARD3 and PLCB4) not involved in any other total sample-MMC and low-MMC gene-gene interaction ( 33470056).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3470056E7", "complex_components": {}, "pfam_ids": ["PF22631", "PF00387", "PF17787", "PF00168", "PF08703", "PF00388", "PF09279"], "domain_descriptions": ["C2 domain", "Phosphatidylinositol-specific phospholipase C", "X domain", "Phosphoinositide phospholipase C family", "Phospholipase C", "phosphatidylinositol-specific", "Y domain", "EF-hand domain pair", "Phospholipase C-beta", "C-terminal domain", "Phosphatidylinositol-4", "5-bisphosphate phosphodiesterase beta", "PLC-like phosphodiesterase", "TIM beta/alpha-barrel domain superfamily", "C2 domain superfamily", "PLC-beta", "PH domain", "Phospholipase C-beta", "C-terminal domain superfamily", "Phosphoinositide phospholipase C beta 1-4-like", "EF-hand domain", "Phosphoinositide-specific phospholipase C", "EF-hand-like domain", "Pleckstrin homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000101333", "ortholog_mouse": "Plcb4", "ortholog_c_elegans": "egl-8", "ortholog_xenopus": "plcb4", "ortholog_zebrafish": "plcb4a, plcb4b", "ortholog_drosophila": "norpA", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.2956, "sd_percent_ciliated": 8.3398, "z_score": 0.5193 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.126, "sd_percent_ciliated": 0.126, "z_score": 0.126 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.056, "sd_percent_ciliated": -4.056, "z_score": -4.056 } ] }, { "gene": "PLCG1", "ensembl_id": "ENSG00000124181", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase C gamma 1 [Source:HGNC Symbol,Acc:HGNC:9065]", "omim_id": "172420", "functional_summary": "PLCG1 was localized to the primary cilia, and depletion of PLCG1 alleviated primary ciliogenesis, suggesting a feedforward role for PLCG1 in mediating primary ciliogenesis(39820281).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.9820281E7", "complex_components": ["CBL", "GRB2", "LAT", "LCP2", "PIK3R1", "PLCG1", "VAV1", "SOS1", "PDGFRA", "PTPN11", "LCK", "ITK", "FYN", "KHDRBS1", "ZAP70"], "pfam_ids": ["PF23583", "PF00388", "PF00169", "PF00387", "PF00168", "PF23329", "PF00017", "PF00018"], "domain_descriptions": ["C2 domain", "Phosphatidylinositol-specific phospholipase C", "X domain", "SH2 domain", "Phosphoinositide phospholipase C family", "SH3 domain", "Phospholipase C", "phosphatidylinositol-specific", "Y domain", "Pleckstrin homology domain", "EF-hand domain", "EF-hand domain pair", "PH-like domain superfamily", "Phosphatidylinositol-4", "5-bisphosphate phosphodiesterase gamma", "PLC-like phosphodiesterase", "TIM beta/alpha-barrel domain superfamily", "EF-Hand 1", "calcium-binding site", "PLC-gamma", "C-terminal SH2 domain", "PLC-gamma", "N-terminal SH2 domain", "1-phosphatidylinositol 4", "5-bisphosphate phosphodiesterase gamma-1", "SH3 domain", "C2 domain superfamily", "SH3-like domain superfamily", "SH2 domain superfamily", "PLCG", "EF-hand domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000124181", "synonym": "NCKAP3, PLC-II, PLC1, PLC148, PLCGAMMA1", "ortholog_mouse": "Plcg1", "ortholog_c_elegans": "plc-3", "ortholog_xenopus": "plcg1", "ortholog_zebrafish": "plcg1", "ortholog_drosophila": "sl", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.2181, "z_score": 0.2283, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 49.1051, "z_score": 1.3443, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.6887 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.29, "z_score": 2.29, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.29 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5889, "z_score": -5.5889, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.5889 } ] }, { "gene": "PLD1", "ensembl_id": "ENSG00000075651", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase D1 [Source:HGNC Symbol,Acc:HGNC:9067]", "omim_id": "602382", "functional_summary": "PLD1 mediated rescue of ciliogenesis by EphA2 depletion was blocked by BafA1, placing autophagy between EphA2 sig ling and regulation of ciliogenesis ( 34119713).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4119713E7", "complex_components": ["PLCG2", "PLD1", "PRKCA", "EGLN1", "HIF1A", "VHL"], "pfam_ids": ["PF00169", "PF00787", "PF00614", "PF13091"], "domain_descriptions": ["Phox homology", "Phospholipase D/Transphosphatidylase", "Pleckstrin homology domain", "PH-like domain superfamily", "Phospholipase D family", "Phospholipase D", "eukaryotic type", "Phospholipase D-like domain", "PX domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000075651", "ortholog_mouse": "Pld1", "ortholog_c_elegans": "pld-1", "ortholog_xenopus": "pld1", "ortholog_zebrafish": "pld1a, pld1b", "ortholog_drosophila": "Pld", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.0539, "sd_percent_ciliated": 1.3669, "z_score": 0.2477, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.51, "sd_percent_ciliated": 1.51, "z_score": 1.51, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.541, "sd_percent_ciliated": 0.541, "z_score": 0.541, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PLD3", "ensembl_id": "ENSG00000105223", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipase D family member 3 [Source:HGNC Symbol,Acc:HGNC:17158]", "omim_id": "615698", "functional_summary": "Mutations in the PLD3 gene cause Spinocerebellar Ataxia (PMID: 29053796).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "2.9053796E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000105223", "synonym": "HU-K4", "ortholog_mouse": "Pld3", "ortholog_c_elegans": "F09G2.8, T05C3.6", "ortholog_xenopus": "pld3", "ortholog_zebrafish": "pld3", "ortholog_drosophila": "Pld3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.9612, "sd_percent_ciliated": 5.5827, "z_score": -0.0058 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.98, "sd_percent_ciliated": 2.98, "z_score": 2.98 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4151, "sd_percent_ciliated": -0.4151, "z_score": -0.4151 } ] }, { "gene": "PLEKHA8", "ensembl_id": "ENSG00000106086", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pleckstrin homology domain containing A8 [Source:HGNC Symbol,Acc:HGNC:30037]", "omim_id": "608639", "functional_summary": "FAPP2, cilium formation, and compartmentalization of the apical membrane in polarized Madin–Darby canine kidney (MDCK) cells ( 17116893).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "1.7116893E7", "complex_components": {}, "pfam_ids": ["PF08718", "PF00169"], "domain_descriptions": ["Pleckstrin homology domain", "PH-like domain superfamily", "Glycolipid transfer protein domain", "Glycolipid transfer protein superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000106086", "synonym": "FAPP2, MGC3358", "ortholog_mouse": "Plekha8", "ortholog_xenopus": "plekha8", "ortholog_zebrafish": "plekha8", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2899, "sd_percent_ciliated": -0.2899, "z_score": -0.2899, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PLK1", "ensembl_id": "ENSG00000166851", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "polo like kinase 1 [Source:HGNC Symbol,Acc:HGNC:9077]", "omim_id": "602098", "functional_summary": "Regulates of centrosome maturation. Induces the phosphorylation of the transition zone protein nephrocystin-1 and modulates trafficking required for ciliary mainte nce or disassembly (22701722). Interacts with and activates histone deacetylase 6 (HDAC6) to promote ciliary deacetylation and resorption. Plk1 is recruited to the pericentriolar region by PCM1 (23345402).", "localization": "basal body, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation, Transition zone, Transcription regulation", "reference": "26755742, 26701933, 27246242", "complex_components": ["DYNLL1", "KNSTRN", "PLK1", "SGO2", "SPAG5", "FOXK1", "SPAG9", "FOXK2", "DCTN1", "DYNC1I1", "NUDC"], "pfam_ids": ["PF00659", "PF00069"], "domain_descriptions": ["Protein kinase domain", "POLO box domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Second polo-box domain", "First polo-box domain", "Polo-like kinase 1", "catalytic domain", "POLO box domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000166851", "synonym": "PLK", "ortholog_mouse": "Plk1", "ortholog_c_elegans": "plk-1, plk-2, plk-3", "ortholog_xenopus": "plk1", "ortholog_zebrafish": "plk1", "ortholog_drosophila": "polo", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.4535, "sd_percent_ciliated": 2.0555, "z_score": -1.4001 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.51, "sd_percent_ciliated": 5.51, "z_score": 5.51 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.4718, "sd_percent_ciliated": -6.4718, "z_score": -6.4718 } ] }, { "gene": "PLK4", "ensembl_id": "ENSG00000142731", "overexpression_effects": "No dramatic change", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "polo like kinase 4 [Source:HGNC Symbol,Acc:HGNC:11397]", "omim_id": "605031", "functional_summary": "Role in pericentrosomal localisation and integrity of centriolar satellite and ciliogenesis through PCM1 phosphorylation (26755742). Interacts with CEP78. Over-expression induces centrosome amplification, which prevents the formation of basal bodies leading to loss of primary cilia (26701933, 27246242).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "26336158, 23015594, 22840364 ,26701933", "complex_components": ["PLK4", "TENT5C", "STIL"], "pfam_ids": ["PF00069", "PF18409", "PF18190"], "domain_descriptions": ["Protein kinase domain", "POLO box domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Plk4", "C-terminal polo-box domain", "Plk4", "second cryptic polo-box domain", "Plk4", "first cryptic polo-box domain", "Serine/threonine-protein kinase", "first cryptic polo-box domain superfamily", "Plk4-like", "second cryptic polo-box domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000142731", "synonym": "SAK, STK18", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Plk4", "ortholog_xenopus": "plk4", "ortholog_zebrafish": "plk4", "ortholog_drosophila": "SAK", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.5557, "sd_percent_ciliated": 3.5373, "z_score": 0.0662 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 10.5, "sd_percent_ciliated": 10.5, "z_score": 10.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.9534, "sd_percent_ciliated": -4.9534, "z_score": -4.9534 } ] }, { "gene": "PLPP3", "ensembl_id": "ENSG00000162407", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipid phosphatase 3 [Source:HGNC Symbol,Acc:HGNC:9229]", "omim_id": "607125", "functional_summary": "PLPP3 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Cell migration & adhesion, Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["ITGAV", "ITGB3", "PLPP3"], "pfam_ids": "PF01569", "domain_descriptions": ["Phosphatidic acid phosphatase type 2/haloperoxidase", "Phosphatidic acid phosphatase type 2/haloperoxidase superfamily", "Phosphatidate (PA) phosphatase-related"], "string_link": "https://string-db.org/network/9606/ENSG00000162407", "synonym": "LPP3, PAP-2B, PPAP2B", "ortholog_mouse": "Plpp3", "ortholog_c_elegans": "plpp-1.1, plpp-1.2", "ortholog_xenopus": "plpp3", "ortholog_zebrafish": "plpp3", "ortholog_drosophila": "CG11425, CG11426, CG11437, CG11438, laza, wun, wun2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 9.14, "sd_percent_ciliated": 9.14, "z_score": 9.14, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PLSCR1", "ensembl_id": "ENSG00000188313", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phospholipid scramblase 1 [Source:HGNC Symbol,Acc:HGNC:9092]", "omim_id": "604170", "functional_summary": "si:ch211-71m22.1 (PLSCR1 in human) and slc43a3a are required for the function of all motile cilia, except for those in the otic vesicle, whereas two genes encoding putative guanine nucleotide exchange factors, arhgef18b and ect2l, are needed for the function of motile cilia in just the developing ear and KV ( 25139857).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": "PF03803", "domain_descriptions": ["Scramblase", "Tubby-like", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000188313", "synonym": "MMTRA1B", "ortholog_mouse": "Plscr1, Plscr1l1, Plscr2", "ortholog_c_elegans": "scrm-1, scrm-2, scrm-3", "ortholog_xenopus": "plscr1, plscr2", "ortholog_zebrafish": "plscr3b", "ortholog_drosophila": "scramb1, scramb2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.6474, "z_score": 0.3623, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.571, "z_score": 1.5219, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.0696 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.8837, "z_score": -5.8837, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.8837 } ] }, { "gene": "PMFBP1", "ensembl_id": "ENSG00000118557", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "polyamine modulated factor 1 binding protein 1 [Source:HGNC Symbol,Acc:HGNC:17728]", "omim_id": "618085", "functional_summary": "PMFBP1 has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000118557", "ortholog_mouse": "Pmfbp1", "ortholog_xenopus": "LOC100495973, pmfbp1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.9192, "sd_percent_ciliated": 2.4454, "z_score": 0.1102 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.7813, "sd_percent_ciliated": -1.7813, "z_score": -1.7813 } ] }, { "gene": "PMM2", "ensembl_id": "ENSG00000140650", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphomannomutase 2 [Source:HGNC Symbol,Acc:HGNC:9115]", "omim_id": "601785", "functional_summary": "PMM2 has localized in primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273, 33580824, 32841164 ,33580824; 32841164", "complex_components": {}, "pfam_ids": ["PF03332", "PF08282"], "domain_descriptions": ["Phosphomannomutase", "HAD-superfamily hydrolase", "subfamily IIB", "HAD superfamily", "HAD-like superfamily", "Phosphomannomutase", "cap domain"], "string_link": "https://string-db.org/network/9606/ENSG00000140650", "synonym": "CDG1, CDG1A, CDGS, PMI, PMI1", "ciliopathy": "COACH Syndrome; Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pmm2", "ortholog_c_elegans": "F52B11.2", "ortholog_xenopus": "pmm2", "ortholog_zebrafish": "pmm2", "ortholog_drosophila": "Pmm2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.1134, "sd_percent_ciliated": 2.596, "z_score": 0.4972, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.421, "sd_percent_ciliated": 0.421, "z_score": 0.421, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3838, "sd_percent_ciliated": -2.3838, "z_score": -2.3838, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PNPLA5", "ensembl_id": "ENSG00000100341", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "patatin like domain 5, triacylglycerol lipase [Source:HGNC Symbol,Acc:HGNC:24888]", "omim_id": "611589", "functional_summary": "PNPLA5 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF01734", "domain_descriptions": ["Patatin-like phospholipase domain", "Acyl transferase/acyl hydrolase/lysophospholipase", "Patatin-like phospholipase domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000100341", "synonym": "DJ388M5.4, GS2L", "ortholog_mouse": "Pnpla5", "ortholog_c_elegans": "atgl-1", "ortholog_xenopus": "pnpla3", "ortholog_zebrafish": "pnpla3", "ortholog_drosophila": "bmm, dob", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.96, "sd_percent_ciliated": 0.96, "z_score": 0.96, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5055, "sd_percent_ciliated": -0.5055, "z_score": -0.5055, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PNPLA6", "ensembl_id": "ENSG00000032444", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "patatin like domain 6, lysophospholipase [Source:HGNC Symbol,Acc:HGNC:16268]", "omim_id": "603197", "functional_summary": "Mutations in the PNPLA6 gene cause Laurence–Moon Syndrome (PMID: 25480986).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "25480986 ,25480986", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000032444", "synonym": "IPLA2DELTA, NTE, SPG39, SWS", "ciliopathy": "Laurence–Moon Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pnpla6", "ortholog_c_elegans": "M110.7, ZK370.4", "ortholog_xenopus": "pnpla6", "ortholog_zebrafish": "pnpla6", "ortholog_drosophila": "sws", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 9.47, "sd_percent_ciliated": 9.47, "z_score": 9.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8238, "sd_percent_ciliated": -6.8238, "z_score": -6.8238, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "POC1A", "ensembl_id": "ENSG00000164087", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "POC1 centriolar protein A [Source:HGNC Symbol,Acc:HGNC:24488]", "omim_id": "614783", "functional_summary": "Stable component of centrioles that and plays a role in their formation and mainte nce. Mutations cause ciliogenesis defects and impared mitosis, as well as primordial dwarfism (26336158, 23015594, 22840364).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly", "reference": "26336158, 23015594, 25044745, 25018096, 22840363", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein WDR55/POC1"], "string_link": "https://string-db.org/network/9606/ENSG00000164087", "synonym": "DKFZP434C245, WDR51A", "ortholog_mouse": "Poc1a", "ortholog_xenopus": "poc1a", "ortholog_zebrafish": "poc1a", "ortholog_drosophila": "Poc1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.42, "sd_percent_ciliated": 3.42, "z_score": 3.42, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1654, "sd_percent_ciliated": -3.1654, "z_score": -3.1654, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "POC1B", "ensembl_id": "ENSG00000139323", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "POC1 centriolar protein B [Source:HGNC Symbol,Acc:HGNC:30836]", "omim_id": "614784", "functional_summary": "Stable component of centrioles that and plays a role in their formation and mainte nce, required for ciliogenesis (26336158, 23015594, 25044745). Disease gene for recessive reti l degeneration and severe syndromic ciliopathy (25018096).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "19349582, 30845169, 24945461 ,24945461", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein WDR55/POC1"], "string_link": "https://string-db.org/network/9606/ENSG00000139323", "synonym": "FLJ14923, TUWD12, WDR51B", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Poc1b", "ortholog_xenopus": "poc1b", "ortholog_zebrafish": "poc1b", "ortholog_drosophila": "Poc1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.15, "sd_percent_ciliated": 2.15, "z_score": 2.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2676, "sd_percent_ciliated": 0.2676, "z_score": 0.2676, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "POC5", "ensembl_id": "ENSG00000152359", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "POC5 centriolar protein [Source:HGNC Symbol,Acc:HGNC:26658]", "omim_id": "617880", "functional_summary": "Essential for assembling the distal half of the centriole and the elongation of the centrioles. Mutations of POC5 alter its subcellular localization and induce ciliary retraction (19349582), in addition, impair cell cycle, cilia length and centrosome protein interactions (30845169 ).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Cilia length regulation", "reference": "2.1746835E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000152359", "synonym": "C5ORF37, FLJ35779, HPOC5, MGC120442, MGC120443, MGC120444", "ortholog_mouse": "Poc5", "ortholog_xenopus": "poc5", "ortholog_zebrafish": "poc5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.55, "sd_percent_ciliated": 1.55, "z_score": 1.55, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.04, "sd_percent_ciliated": 3.04, "z_score": 3.04, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "POGZ", "ensembl_id": "ENSG00000143442", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pogo transposable element derived with ZNF domain [Source:HGNC Symbol,Acc:HGNC:18801]", "omim_id": "614787", "functional_summary": "POGZ has localized in basal body, transition zone.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF03184", "PF03221"], "domain_descriptions": ["DDE superfamily endonuclease domain", "HTH CenpB-type DNA-binding domain", "Homedomain-like superfamily", "Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "Snail/Krueppel C2H2-type Zinc-finger"], "string_link": "https://string-db.org/network/9606/ENSG00000143442", "synonym": "KIAA0461, ZNF280E, ZNF635", "ortholog_mouse": "Pogz", "ortholog_c_elegans": "row-1", "ortholog_xenopus": "pogz", "ortholog_zebrafish": "pogza, pogzb", "ortholog_drosophila": "row", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.0464, "z_score": -1.4155, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 23.2791, "z_score": -1.7847, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.6374 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 15, "z_score": 15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 15 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1825, "z_score": -2.1825, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.1825 } ] }, { "gene": "POLA2", "ensembl_id": "ENSG00000014138", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "DNA polymerase alpha 2, accessory subunit [Source:HGNC Symbol,Acc:HGNC:30073]", "omim_id": "620063", "functional_summary": "POLA2 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PCNA", "POLA1", "POLA2", "POLD1", "POLD2", "POLD3", "POLD4", "PRIM1", "PRIM2", "RFC1", "RFC2", "RFC3", "RFC4", "RFC5", "CCNA2", "CDK2", "LIG1", "PARP1", "POLE", "POLE2", "POLE3", "POLE4", "RPA1", "RPA2", "RPA3", "TOP1", "CCNB1", "CDK1", "TOP2A", "Pola1", "Pola2", "Prim1", "Prim2"], "pfam_ids": ["PF08418", "PF04042", "PF22062"], "domain_descriptions": ["DNA polymerase alpha/delta/epsilon", "subunit B", "DNA polymerase alpha", "subunit B", "N-terminal", "DNA polymerase alpha", "subunit B", "DNA polymerase alpha", "subunit B", "N-terminal domain superfamily", "DNA polymerase alpha subunit B", "OB domain"], "string_link": "https://string-db.org/network/9606/ENSG00000014138", "synonym": "FLJ21662", "ortholog_mouse": "Pola2", "ortholog_c_elegans": "div-1", "ortholog_xenopus": "pola2", "ortholog_zebrafish": "pola2", "ortholog_drosophila": "PolA2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.209, "sd_percent_ciliated": 0.7669, "z_score": 1.3569 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.68, "sd_percent_ciliated": 1.68, "z_score": 1.68 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -14.5569, "sd_percent_ciliated": -14.5569, "z_score": -14.5569 } ] }, { "gene": "POMGNT1", "ensembl_id": "ENSG00000085998", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Source:HGNC Symbol,Acc:HGNC:19139]", "omim_id": "606822", "functional_summary": "POMGNT1 is specifically expressed in photoreceptor basal body (26908613).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26908613, 26908613", "complex_components": {}, "pfam_ids": ["PF03071", "PF15711"], "domain_descriptions": ["Glycosyl transferase", "family 13", "Nucleotide-diphospho-sugar transferases", "Protein O-linked-mannose beta-1", "2-N-acetylglucosaminyltransferase 1", "PANDER-like domain", "ILEI/PANDER domain", "O-linked-mannose beta-1", "2-N-acetylglucosaminyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000085998", "synonym": "FLJ20277, LGMD2O, MEB, MGAT1.2", "ortholog_mouse": "Pomgnt1", "ortholog_xenopus": "pomgnt1", "ortholog_zebrafish": "pomgnt1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9111, "sd_percent_ciliated": -0.9111, "z_score": -0.9111, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "POMK", "ensembl_id": "ENSG00000185900", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein O-mannose kinase [Source:HGNC Symbol,Acc:HGNC:26267]", "omim_id": "615247", "functional_summary": "Hydrocephalus and infertility due to dysfunctio l motile cilia, cerebellar dysplasia in KO mouse 21746835", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "29771182 ,28560031", "complex_components": {}, "pfam_ids": "PF07714", "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Protein kinase-like domain superfamily", "Protein O-mannose kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000185900", "synonym": "FLJ23356, SGK196", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Pomk", "ortholog_xenopus": "pomk", "ortholog_zebrafish": "pomk", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.1, "sd_percent_ciliated": 4.1, "z_score": 4.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "POMP", "ensembl_id": "ENSG00000132963", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "proteasome maturation protein [Source:HGNC Symbol;Acc:HGNC:20330]", "omim_id": "613386", "functional_summary": "Loss of POMP gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000132963", "synonym": "C13ORF12; HSPC014; UMP1", "ortholog_mouse": "Pomp", "ortholog_xenopus": "pomp", "ortholog_zebrafish": "pomp", "ortholog_drosophila": "Pomp", "screens": [] }, { "gene": "POMT2", "ensembl_id": "ENSG00000009830", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein O-mannosyltransferase 2 [Source:HGNC Symbol,Acc:HGNC:19743]", "omim_id": "607439", "functional_summary": "POMT2 is essential for EYS protein localization near connecting cilia and for photoreceptor survival ( 36499139).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6499139E7", "complex_components": {}, "pfam_ids": ["PF02815", "PF16192", "PF02366"], "domain_descriptions": ["Glycosyl transferase family 39/83", "MIR motif", "Glycosyltransferase 39-like", "Protein O-mannosyl-transferase", "C-terminal four TM domain", "Mir domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000009830", "synonym": "LGMD2N", "ortholog_mouse": "Pomt2", "ortholog_xenopus": "pomt2", "ortholog_zebrafish": "pomt2", "ortholog_drosophila": "tw", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.564, "sd_percent_ciliated": 8.3879, "z_score": -0.1751 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.41, "sd_percent_ciliated": 2.41, "z_score": 2.41 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4073, "sd_percent_ciliated": -3.4073, "z_score": -3.4073 } ] }, { "gene": "POR", "ensembl_id": "ENSG00000127948", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "cytochrome p450 oxidoreductase [Source:HGNC Symbol,Acc:HGNC:9208]", "omim_id": "124015", "functional_summary": "POR interacted with the ciliary transition zone, centriole, and appendage proteins(33936569).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "33936569 ,7763281", "complex_components": {}, "pfam_ids": ["PF00258", "PF00175", "PF00667"], "domain_descriptions": ["Flavodoxin/nitric oxide synthase", "Flavoprotein-like superfamily", "Flavodoxin-like", "Oxidoreductase FAD/NAD(P)-binding", "Flavoprotein pyridine nucleotide cytochrome reductase", "Sulfite reductase [NADPH] flavoprotein alpha-component-like", "FAD-binding", "FAD-binding domain", "ferredoxin reductase-type", "Riboflavin synthase-like beta-barrel", "NADPH-cytochrome p450 reductase", "FAD-binding", "alpha-helical domain superfamily", "NADPH-cytochrome P450 reductase", "Ferredoxin-NADP reductase (FNR)", "nucleotide-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000127948", "synonym": "CYPOR, FLJ26468", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Por", "ortholog_c_elegans": "emb-8", "ortholog_xenopus": "por", "ortholog_zebrafish": "pora, porb", "ortholog_drosophila": "Cpr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.6201, "sd_percent_ciliated": 4.3286, "z_score": 0.4375 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.885, "sd_percent_ciliated": 0.885, "z_score": 0.885 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.2891, "sd_percent_ciliated": -2.2891, "z_score": -2.2891 } ] }, { "gene": "POU5F1", "ensembl_id": "ENSG00000235068", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "POU class 5 homeobox 1 [Source:HGNC Symbol,Acc:HGNC:9221]", "omim_id": "164177", "functional_summary": "Oct4 colocalized with alpha-tubulin to the eye of a 8-week human embryo(26255818).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.6255818E7", "complex_components": ["POU5F1", "SOX2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000235068", "synonym": "MGC22487, OCT-4, OCT3, OCT3/4, OCT4, OTF3", "ortholog_mouse": "Pou5f1", "ortholog_xenopus": "pou5f3, pou5f3.2, pou5f3.3", "ortholog_zebrafish": "pou5f3", "screens": {} }, { "gene": "PPARA", "ensembl_id": "ENSG00000186951", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "peroxisome proliferator activated receptor alpha [Source:HGNC Symbol,Acc:HGNC:9232]", "omim_id": "170998", "functional_summary": "Ciliogenesis is reciprocally regulated by PPARA and NR1H4/FXR through controlling autophagy in vitro and in vivo. Regulates autophagy by controlling transcription of genes involved in autophagic pathways, and activation of PPARA facilitated ciliogenesis independently of cellular nutritio l states by activating autophagy (29771182).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "23718219, 29141582", "complex_components": ["ILF3", "NR5A2", "PPARA", "PRMT1", "NR1H3", "NR1H2", "RXRA", "MED1", "NCOR1", "SUMO1", "NRIP1", "SIRT6", "NCOA2", "Asxl1", "ASXL2", "Lrp1"], "pfam_ids": ["PF00105", "PF00104"], "domain_descriptions": ["Nuclear hormone receptor", "ligand-binding domain", "Zinc finger", "nuclear hormone receptor-type", "Nuclear hormone receptor", "Peroxisome proliferator-activated receptor", "Peroxisome proliferator-activated receptor alpha", "Zinc finger", "NHR/GATA-type", "Nuclear hormone receptor-like domain superfamily", "Nuclear hormone receptor family NR1 subfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000186951", "synonym": "HPPAR, NR1C1, PPAR", "ortholog_mouse": "Ppara", "ortholog_c_elegans": "nhr-2", "ortholog_xenopus": "ppara", "ortholog_zebrafish": "pparaa, pparab", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.2986, "sd_percent_ciliated": 17.9625, "z_score": 1.1255 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.838, "sd_percent_ciliated": 0.838, "z_score": 0.838 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.9846, "sd_percent_ciliated": -2.9846, "z_score": -2.9846 } ] }, { "gene": "PPEF1", "ensembl_id": "ENSG00000086717", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase with EF-hand domain 1 [Source:HGNC Symbol,Acc:HGNC:9243]", "omim_id": "300109", "functional_summary": "In C. elegans, the PEF-1 protein (ortholog of human PPEF1/PPEF2) localizes inside cilia, and pef-1 mutants show structural cilia defects (microtubule degeneration) and functional cilia defects (impaired chemosensation, thermosensation, light, and CO₂ response) (PMID: 39550471).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.9550471E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000086717", "synonym": "PPEF, PPP7CA", "ortholog_mouse": "Ppef1", "ortholog_c_elegans": "pef-1", "ortholog_xenopus": "ppef1", "ortholog_zebrafish": "ppef1", "ortholog_drosophila": "rdgC", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.5833, "sd_percent_ciliated": 8.8388, "z_score": 0.1907, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5319, "sd_percent_ciliated": -0.5319, "z_score": -0.5319, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPEF2", "ensembl_id": "ENSG00000156194", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "protein phosphatase with EF-hand domain 2 [Source:HGNC Symbol,Acc:HGNC:9244]", "omim_id": "602256", "functional_summary": "In C. elegans, the PEF-1 protein (ortholog of human PPEF1/PPEF2) localizes inside cilia, and pef-1 mutants show structural cilia defects (microtubule degeneration) and functional cilia defects (impaired chemosensation, thermosensation, light, and CO₂ response) (PMID: 39550471). We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). ). Ultrastructural analysis using TEM further revealed that Pkhd1l1−/− mouse OFT tissues displayed severely disorganized ciliary axonemes, with microtubule loss and irregular ciliary distribution and orientation, compared to the typical 9+0 microtubule arrangement in wild-type Pkhd1l1+/+ mice (Fig. 3, I and J). Thus, these findings highlight the critical role of ciliary genes in ciliogenesis and their essential function located in cardiac OFT development. (41071877)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "39550471, 41071877", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156194", "synonym": "PPP7CB", "ciliopathy": "Tetralogy of Fallot (TOF)", "ortholog_mouse": "Ppef2", "ortholog_c_elegans": "pef-1", "ortholog_xenopus": "ppef2", "ortholog_zebrafish": "ppef2a, ppef2b", "ortholog_drosophila": "rdgC", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5001, "sd_percent_ciliated": 1.6174, "z_score": 0.3018 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.221, "sd_percent_ciliated": 0.221, "z_score": 0.221 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6469, "sd_percent_ciliated": -5.6469, "z_score": -5.6469 } ] }, { "gene": "PPID", "ensembl_id": "ENSG00000171497", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "peptidylprolyl isomerase D [Source:HGNC Symbol,Acc:HGNC:9257]", "omim_id": "601753", "functional_summary": "PPID has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00160", "domain_descriptions": ["Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain", "Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Cyclophilin-type peptidyl-prolyl cis-trans isomerase", "conserved site", "Cyclophilin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000171497", "synonym": "CYP-40, CYPD", "ortholog_mouse": "Ppid", "ortholog_xenopus": "ppid", "ortholog_zebrafish": "ppid", "ortholog_drosophila": "Cyp40", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.0104, "sd_percent_ciliated": 2.4639, "z_score": 0.2424 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.44, "sd_percent_ciliated": 7.44, "z_score": 7.44 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.9896, "sd_percent_ciliated": -6.9896, "z_score": -6.9896 } ] }, { "gene": "PPL", "ensembl_id": "ENSG00000118898", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "periplakin [Source:HGNC Symbol,Acc:HGNC:9273]", "omim_id": "602871", "functional_summary": "PPL has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AHNAK", "EZR", "PPL", "PRX"], "pfam_ids": ["PF17902", "PF23160"], "domain_descriptions": ["Plectin repeat", "SH3 domain", "Spectrin/alpha-actinin", "Plakin repeat superfamily", "Desmoplakin", "SH3 domain", "Plakin", "Periplakin/Envoplakin", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000118898", "ortholog_mouse": "Ppl", "ortholog_xenopus": "ppl", "ortholog_zebrafish": "ppl", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.284, "z_score": 0.2489, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 44.3158, "z_score": 0.7641, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.9508 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.9715, "z_score": -12.9715, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -12.9715 } ] }, { "gene": "PPP1CA", "ensembl_id": "ENSG00000172531", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 1 catalytic subunit alpha [Source:HGNC Symbol,Acc:HGNC:9281]", "omim_id": "176875", "functional_summary": "PPP1CA has localized in basal body,flagella.", "localization": "basal body,flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["PPP1CA", "PPP1R10", "AKAP9", "KCNQ1", "PRKACA", "PRKAR2A", "BCAS2", "BZW1", "CDC5L", "CWC15", "DYNC1H1", "GCN1", "HSPA8", "ILF2", "PLRG1", "PPM1D", "PRKDC", "PRPF19", "RBMX", "SCAF8", "SF3B1", "SF3B2", "SF3B4", "SFI1", "SFPQ", "SNRPA", "SNRPA1", "SNRPD1", "SNRPD2", "SNRPD3", "SRRM1", "SRSF1", "SRSF2", "TCF4", "TOP2A", "PPP1R13L", "GNB1", "PPP1CB", "PPP1CC", "MRAS", "SHOC2", "PEAK1", "SHC1", "TOX4", "WDR82", "EIF2S1", "NCK1", "PPP1R15B", "ACIN1", "AGGF1", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HTATSF1", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PNN", "PPP1R8", "PQBP1", "PRCC", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B3", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPB", "SNRPB2", "SNRPC", "SNRPE", "SNRPF", "SNRPG", "SRRM2", "SRRT", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207", "HDAC8"], "pfam_ids": ["PF00149", "PF16891"], "domain_descriptions": ["Calcineurin-like phosphoesterase domain", "ApaH type", "Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase", "Metallo-dependent phosphatase-like", "Serine-threonine protein phosphatase", "N-terminal", "Serine/threonine-protein phosphatase PP1 catalytic subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000172531", "synonym": "PP-1A, PP1A, PP1ALPHA, PPP1A", "ortholog_mouse": "Ppp1ca", "ortholog_c_elegans": "gsp-2", "ortholog_xenopus": "ppp1ca", "ortholog_zebrafish": "ppp1caa, ppp1cab", "ortholog_drosophila": "Pp1-13C, Pp1-87B, Pp1-Y2, Pp1α-96A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.8562, "sd_percent_ciliated": 1.7572, "z_score": -0.8666 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.41, "sd_percent_ciliated": 6.41, "z_score": 6.41 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.9032, "sd_percent_ciliated": -5.9032, "z_score": -5.9032 } ] }, { "gene": "PPP1R2", "ensembl_id": "ENSG00000184203", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 1 regulatory inhibitor subunit 2 [Source:HGNC Symbol,Acc:HGNC:9288]", "omim_id": "601792", "functional_summary": "WNT/GSK3 sig ling independent of 尾-catenin inhibits ciliary PP1 in cilia via PPP1R2 (36693320).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.669332E7", "complex_components": {}, "pfam_ids": "PF04979", "domain_descriptions": "Protein phosphatase inhibitor 2 (IPP-2)", "string_link": "https://string-db.org/network/9606/ENSG00000184203", "synonym": "IPP2, PPP1R2A", "ortholog_mouse": "Ppp1r2", "ortholog_c_elegans": "szy-2", "ortholog_xenopus": "ppp1r2", "ortholog_zebrafish": "ppp1r2", "ortholog_drosophila": "CG12620, CG6380, I-2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.8072, "sd_percent_ciliated": 3.3, "z_score": 0.4601 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.96, "sd_percent_ciliated": 6.96, "z_score": 6.96 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.5529, "sd_percent_ciliated": -8.5529, "z_score": -8.5529 } ] }, { "gene": "PPP1R35", "ensembl_id": "ENSG00000160813", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "protein phosphatase 1 regulatory subunit 35 [Source:HGNC Symbol,Acc:HGNC:28320]", "omim_id": "618937", "functional_summary": "PPP1R35, the product of the gene C7orf47, is a centrosomal component located in the proximal centriolar lumen above the cartwheel. PPP1R35 is not important for early centriole assembly but is critical for centriole elongation by impacting the recruitment of the microtubule-binding elongation machinery(30168418).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.0168418E7", "complex_components": {}, "pfam_ids": "PF15503", "domain_descriptions": ["Protein phosphatase 1 regulatory subunit 35", "C-terminal", "Protein phosphatase 1 regulatory subunit 35"], "string_link": "https://string-db.org/network/9606/ENSG00000160813", "synonym": "C7ORF47, MGC22793", "ortholog_mouse": "Ppp1r35", "ortholog_xenopus": "ppp1r35", "ortholog_zebrafish": "ppp1r35", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 9.03, "sd_percent_ciliated": 9.03, "z_score": 9.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.6927, "sd_percent_ciliated": 2.6927, "z_score": 2.6927, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPP1R3D", "ensembl_id": "ENSG00000132825", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 1 regulatory subunit 3D [Source:HGNC Symbol,Acc:HGNC:9294]", "omim_id": "603326", "functional_summary": "PPP1R3D has localized in basal body,flagella.", "localization": "basal body,flagella, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF03370", "domain_descriptions": ["CBM21 (carbohydrate binding type-21) domain", "Protein phosphatase 1 regulatory subunit 3B/C/D", "metazoa", "CBM21 domain superfamily", "Protein phosphatase 1 regulatory subunit 3"], "string_link": "https://string-db.org/network/9606/ENSG00000132825", "synonym": "PPP1R6", "ortholog_mouse": "Ppp1r3d", "ortholog_c_elegans": "CC8.2", "ortholog_xenopus": "ppp1r3d", "ortholog_zebrafish": "ppp1r3da, ppp1r3db", "ortholog_drosophila": "Gbs-76A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.8964, "sd_percent_ciliated": 0.2097, "z_score": 0.5921 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0553, "sd_percent_ciliated": -1.0553, "z_score": -1.0553 } ] }, { "gene": "PPP1R42", "ensembl_id": "ENSG00000178125", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "protein phosphatase 1 regulatory subunit 42 [Source:HGNC Symbol,Acc:HGNC:33732]", "omim_id": "617720", "functional_summary": "Regulates PP1 activity at the centrosome. It activates PP1 to negatively regulate NEK2, suppressing centrosome separation (23718219). PPP1R42 overexpression induces an increase in cilia number and length (29141582).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.9426949E7", "complex_components": {}, "pfam_ids": ["PF12799", "PF14580"], "domain_descriptions": ["Leucine-rich repeat", "Leucine rich repeat 4", "Leucine-rich repeat domain superfamily", "SDS22/Internalin LRR-containing"], "string_link": "https://string-db.org/network/9606/ENSG00000178125", "synonym": "DTR, LRRC67, TLLR", "ortholog_mouse": "Ppp1r42", "ortholog_xenopus": "ppp1r42", "ortholog_zebrafish": "ppp1r42", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.89, "sd_percent_ciliated": 4.89, "z_score": 4.89, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.1787, "sd_percent_ciliated": -5.1787, "z_score": -5.1787, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPP2R2B", "ensembl_id": "ENSG00000156475", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 2 regulatory subunit Bbeta [Source:HGNC Symbol,Acc:HGNC:9305]", "omim_id": "604325", "functional_summary": "Mutations in the PPP2R2B gene cause Spinocerebellar Ataxia (PMID: 10581021).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "1.0581021E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156475", "synonym": "B55BETA, PR52B, PR55-BETA, SCA12", "ortholog_mouse": "Ppp2r2b", "ortholog_c_elegans": "sur-6", "ortholog_xenopus": "ppp2r2b", "ortholog_zebrafish": "ppp2r2ba, ppp2r2bb", "ortholog_drosophila": "tws", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 54.7785, "sd_percent_ciliated": 3.4083, "z_score": 2.0317 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.575, "sd_percent_ciliated": 0.575, "z_score": 0.575 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.5239, "sd_percent_ciliated": 0.5239, "z_score": 0.5239 } ] }, { "gene": "PPP2R3A", "ensembl_id": "ENSG00000073711", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 2 regulatory subunit B''alpha [Source:HGNC Symbol,Acc:HGNC:9307]", "omim_id": "604944", "functional_summary": "PPP2R3A has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["PPP2CA", "PPP2R1A", "PPP2R3A", "LPP"], "pfam_ids": ["PF13499", "PF21161", "PF17958"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "PP2A regulatory subunit B''", "EF-hand domain", "Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha/beta/delta", "EF-hand"], "string_link": "https://string-db.org/network/9606/ENSG00000073711", "synonym": "PPP2R3, PR130, PR72", "ortholog_mouse": "Ppp2r3a", "ortholog_c_elegans": "F43B10.1", "ortholog_zebrafish": "ppp2r3a", "ortholog_drosophila": "CG4733", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.6908, "sd_percent_ciliated": 2.6953, "z_score": 0.446 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.11, "sd_percent_ciliated": 2.11, "z_score": 2.11 } ] }, { "gene": "PPP2R3B", "ensembl_id": "ENSG00000273850", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 2 regulatory subunit B''beta [Source:HGNC Symbol,Acc:HGNC:13417]", "omim_id": "300339", "functional_summary": "PPP2R3B has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PPP2R1A", "PPP2R3B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000273850", "synonym": "PPP2R3L, PPP2R3LY, PR48, PR70", "ortholog_mouse": "Ppp2r3d", "ortholog_c_elegans": "F43B10.1, T22D1.5", "ortholog_xenopus": "ppp2r3b", "ortholog_zebrafish": "ppp2r3b", "ortholog_drosophila": "CG4733", "screens": {} }, { "gene": "PPP2R3C", "ensembl_id": "ENSG00000092020", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 2 regulatory subunit B''gamma [Source:HGNC Symbol,Acc:HGNC:17485]", "omim_id": "615902", "functional_summary": "PP2R3C localized at cilia", "localization": "cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ABCB1", "PPP2R3C", "TFPI2"], "pfam_ids": "PF17958", "domain_descriptions": ["EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma", "PP2A regulatory subunit B''", "EF-hand domain"], "string_link": "https://string-db.org/network/9606/ENSG00000092020", "synonym": "C14ORF10, FLJ20644, G4-1, G5PR", "ortholog_mouse": "Ppp2r3c", "ortholog_c_elegans": "rsa-1", "ortholog_xenopus": "ppp2r3c", "ortholog_zebrafish": "ppp2r3c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 47.7, "sd_percent_ciliated": 47.7, "z_score": 47.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.1334, "sd_percent_ciliated": 2.1334, "z_score": 2.1334, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPP2R5E", "ensembl_id": "ENSG00000154001", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 2 regulatory subunit B'epsilon [Source:HGNC Symbol,Acc:HGNC:9313]", "omim_id": "601647", "functional_summary": "PPP2R5E has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF01603", "domain_descriptions": ["Protein phosphatase 2A", "regulatory B subunit", "B56", "Armadillo-like helical", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000154001", "synonym": "B56E, B56EPSILON", "ortholog_mouse": "Ppp2r5e", "ortholog_c_elegans": "pptr-1", "ortholog_xenopus": "ppp2r5e", "ortholog_zebrafish": "ppp2r5ea, ppp2r5eb", "ortholog_drosophila": "wdb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.3846, "sd_percent_ciliated": 0.4748, "z_score": -1.0449, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3006, "sd_percent_ciliated": -0.3006, "z_score": -0.3006, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPP3R1", "ensembl_id": "ENSG00000221823", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 3 regulatory subunit B, alpha [Source:HGNC Symbol,Acc:HGNC:9317]", "omim_id": "601302", "functional_summary": "PPP3R1 has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PPP3CA", "PPP3R1", "FKBP1A", "PPP3CB", "PPP3CC", "PPIA"], "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000221823", "synonym": "CALNB1, CNB, CNB1", "ortholog_mouse": "Ppp3r1", "ortholog_c_elegans": "cnb-1", "ortholog_xenopus": "ppp3r1", "ortholog_zebrafish": "ppp3r1a, ppp3r1b", "ortholog_drosophila": "CanB, CanB2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.8356, "sd_percent_ciliated": 0.5515, "z_score": 0.2213, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.18, "sd_percent_ciliated": 7.18, "z_score": 7.18, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1265, "sd_percent_ciliated": 0.1265, "z_score": 0.1265, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPP3R2", "ensembl_id": "ENSG00000188386", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 3 regulatory subunit B, beta [Source:HGNC Symbol,Acc:HGNC:9318]", "omim_id": "613821", "functional_summary": "PPP3R2 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF13499", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000188386", "synonym": "PPP3RL", "ortholog_mouse": "Ppp3r2", "ortholog_c_elegans": "cnb-1", "ortholog_drosophila": "CanB, CanB2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5383, "sd_percent_ciliated": 4.0192, "z_score": 0.3064 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.01, "sd_percent_ciliated": 2.01, "z_score": 2.01 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5977, "sd_percent_ciliated": -1.5977, "z_score": -1.5977 } ] }, { "gene": "PPP4R1", "ensembl_id": "ENSG00000154845", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 4 regulatory subunit 1 [Source:HGNC Symbol,Acc:HGNC:9320]", "omim_id": "604908", "functional_summary": "PPP4R1 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": ["PPP4C", "PPP4R1"], "pfam_ids": ["PF15017", "PF02985"], "domain_descriptions": ["HEAT repeat", "Armadillo-like helical", "Armadillo-type fold", "HEAT", "type 2", "Putative WW-binding domain and destruction box", "Protein Phosphatase 2A Regulatory Subunit A"], "string_link": "https://string-db.org/network/9606/ENSG00000154845", "synonym": "PP4R1", "ortholog_mouse": "Ppp4r1", "ortholog_c_elegans": "ppfr-1", "ortholog_xenopus": "ppp4r1", "ortholog_zebrafish": "ppp4r1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.0544, "sd_percent_ciliated": 0.2299, "z_score": 0.4901, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.73, "sd_percent_ciliated": 2.73, "z_score": 2.73, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.9974, "sd_percent_ciliated": -6.9974, "z_score": -6.9974, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPP4R4", "ensembl_id": "ENSG00000119698", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein phosphatase 4 regulatory subunit 4 [Source:HGNC Symbol,Acc:HGNC:23788]", "omim_id": "616790", "functional_summary": "PPP4R4 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PPP4C", "PPP4R4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000119698", "synonym": "CFAP14, KIAA1622, PP4R4", "ortholog_mouse": "Ppp4r4", "ortholog_c_elegans": "F46C5.6", "ortholog_xenopus": "ppp4r4", "ortholog_zebrafish": "ppp4r4", "screens": {} }, { "gene": "PPP5C", "ensembl_id": "ENSG00000011485", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Increased", "description": "protein phosphatase 5 catalytic subunit [Source:HGNC Symbol,Acc:HGNC:9322]", "omim_id": "600658", "functional_summary": "PP5 interacts with and directly dephosphorylates Dvl2. Overexpression enhaces ciliogenesis (29426949).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3994472E7", "complex_components": ["CDC37", "HSP90AA1", "HSPA1A", "PPP5C", "TSC1", "TSC2"], "pfam_ids": ["PF00149", "PF00515", "PF08321"], "domain_descriptions": ["Calcineurin-like phosphoesterase domain", "ApaH type", "Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase", "Tetratricopeptide-like helical domain superfamily", "PPP domain", "Tetratricopeptide repeat", "Metallo-dependent phosphatase-like", "PP5", "C-terminal metallophosphatase domain", "Protein Phosphatase PPP"], "string_link": "https://string-db.org/network/9606/ENSG00000011485", "synonym": "PP5, PPP5", "ortholog_mouse": "Ppp5c", "ortholog_c_elegans": "pph-5", "ortholog_xenopus": "ppp5c", "ortholog_zebrafish": "ppp5c", "ortholog_drosophila": "PpD3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.7417, "sd_percent_ciliated": 9.4876, "z_score": -0.1536, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.54, "sd_percent_ciliated": 3.54, "z_score": 3.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4029, "sd_percent_ciliated": -2.4029, "z_score": -2.4029, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PPT1", "ensembl_id": "ENSG00000131238", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "palmitoyl-protein thioesterase 1 [Source:HGNC Symbol,Acc:HGNC:9325]", "omim_id": "600722", "functional_summary": "PPT1 is an important depalmitoylation enzyme, is regulated through reversible S-acylation(26731412).", "localization": "cilia, Cytosol, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6731412E7", "complex_components": {}, "pfam_ids": "PF02089", "domain_descriptions": ["Palmitoyl protein thioesterase", "Alpha/Beta hydrolase fold"], "string_link": "https://string-db.org/network/9606/ENSG00000131238", "synonym": "CLN1, INCL, PPT", "ortholog_mouse": "Ppt1", "ortholog_c_elegans": "ppt-1", "ortholog_xenopus": "ppt1", "ortholog_zebrafish": "ppt1", "ortholog_drosophila": "Ppt1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.0393, "sd_percent_ciliated": 6.9073, "z_score": 0.0036 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.49, "sd_percent_ciliated": 1.49, "z_score": 1.49 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.7139, "sd_percent_ciliated": -1.7139, "z_score": -1.7139 } ] }, { "gene": "PQBP1", "ensembl_id": "ENSG00000102103", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "polyglutamine binding protein 1 [Source:HGNC Symbol,Acc:HGNC:9330]", "omim_id": "300463", "functional_summary": "Interacts with and inhibits Dymin 2 to induce neuro l ciliogenesis. Forms a complex with the GTPase Dymin 2 and thereby inhibits its GTPase activity. Mutations of the PQBP1 WW domain cause recessive X-linked intellectual disability. Mouse embryos were electroporated with the PQBP1 RNAi or control U6 RNAi plasmid together with the GFP expression plasmid and subjected to immunohistochemistry at P10 with the GFP and AC3 antibodies. Arrows indicate the primary cilium. PQBP1 RNAi reduced the number of neurons bearing a cilium. Scale bar, 5 μm. (23994472).", "localization": "flagella , basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "23994472, 24480440, 32357862", "complex_components": ["ACIN1", "AGGF1", "BCAS2", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDC5L", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "CWC15", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PLRG1", "PNN", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF19", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RBMX", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SRRM1", "SRRM2", "SRRT", "SRSF1", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000102103", "synonym": "MRX2, MRX55, MRXS3, MRXS8, RENS1, SHS", "ortholog_mouse": "Pqbp1", "ortholog_c_elegans": "pqbp-1.1", "ortholog_xenopus": "pqbp1", "ortholog_zebrafish": "pqbp1", "screens": {} }, { "gene": "PRCD", "ensembl_id": "ENSG00000214140", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "photoreceptor disc component [Source:HGNC Symbol,Acc:HGNC:32528]", "omim_id": "610598", "functional_summary": "Mutations in the PRCD gene cause Retinitis Pigmentosa (PMID: 16938425).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "16938425 ,16938425", "complex_components": ["PRCD", "RHO"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000214140", "synonym": "RP36", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Prcd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.9108, "sd_percent_ciliated": 3.8535, "z_score": 0.2304 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.02, "sd_percent_ciliated": 1.02, "z_score": 1.02 } ] }, { "gene": "PRDX1", "ensembl_id": "ENSG00000117450", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "peroxiredoxin 1 [Source:HGNC Symbol,Acc:HGNC:9352]", "omim_id": "176763", "functional_summary": "Antioxidant protein, involved in in the regulation of cilium disassembly ( 24480440) and decreases the activity of Aurora A, through the regulation of the critical NEDD9-Aurora A-HDAC6 sig l axis ( 32357862).", "localization": "Ciliary associated gene, Cytosol, Microbody, Nucleus, Peroxisome", "functional_category": "Ciliary assembly/disassembly", "reference": "2.6883626E7", "complex_components": ["PRDX1", "SRXN1", "PI4K2A"], "pfam_ids": ["PF10417", "PF00578"], "domain_descriptions": ["Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant", "Thioredoxin domain", "Peroxiredoxin", "C-terminal", "Peroxiredoxin", "AhpC-type", "Thioredoxin-like superfamily", "Thiol-specific antioxidant peroxiredoxin"], "string_link": "https://string-db.org/network/9606/ENSG00000117450", "synonym": "NKEFA, PAGA", "ortholog_mouse": "Prdx1", "ortholog_c_elegans": "prdx-2", "ortholog_xenopus": "prdx1", "ortholog_zebrafish": "prdx1", "ortholog_drosophila": "Prx1, Prx2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.9399, "sd_percent_ciliated": 0.5754, "z_score": 0.5974 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.44, "sd_percent_ciliated": 7.44, "z_score": 7.44 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1631, "sd_percent_ciliated": -0.1631, "z_score": -0.1631 } ] }, { "gene": "PRICKLE1", "ensembl_id": "ENSG00000139174", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prickle planar cell polarity protein 1 [Source:HGNC Symbol,Acc:HGNC:17019]", "functional_summary": "Also known as PK1. Regulates cell polarity and directio l cell migration. It may also be involved in ciliogenesis. Pk1 mutants exhibited primary and motile cilia defects (26883626).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "24708399, 24938409", "complex_components": {}, "pfam_ids": ["PF00412", "PF06297"], "domain_descriptions": ["Zinc finger", "LIM-type", "PET domain", "PET prickle", "LIM2 prickle", "LIM3 prickle", "Prickle/Espinas/Testin"], "string_link": "https://string-db.org/network/9606/ENSG00000139174", "synonym": "EPM1B, FLJ31937, RILP", "ortholog_mouse": "Prickle1, Rilp", "ortholog_c_elegans": "prkl-1, rilp-1", "ortholog_xenopus": "prickle1, rilp", "ortholog_zebrafish": "prickle1a, prickle1b, rilp", "ortholog_drosophila": "pk, Rilpl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 57.9861, "sd_percent_ciliated": 0.7626, "z_score": 2.4203 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1324, "sd_percent_ciliated": -2.1324, "z_score": -2.1324 } ] }, { "gene": "PRICKLE2", "ensembl_id": "ENSG00000163637", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prickle planar cell polarity protein 2 [Source:HGNC Symbol,Acc:HGNC:20340]", "omim_id": "608501", "functional_summary": "Also known as PK2. Pla r cell polarity core component involved in the development and function of motile cilia (24708399). Role in anterograde transport. Required for basal body and cilia orientation (24938409).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.7062996E7", "complex_components": {}, "pfam_ids": ["PF06297", "PF00412"], "domain_descriptions": ["Zinc finger", "LIM-type", "PET domain", "PET prickle", "LIM1 prickle", "LIM2 prickle", "LIM3 prickle", "Prickle/Espinas/Testin"], "string_link": "https://string-db.org/network/9606/ENSG00000163637", "synonym": "DKFZP686D143", "ortholog_mouse": "Prickle2", "ortholog_c_elegans": "prkl-1", "ortholog_xenopus": "prickle2", "ortholog_zebrafish": "prickle2a, prickle2b", "ortholog_drosophila": "esn, pk", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.5862, "sd_percent_ciliated": 8.5333, "z_score": -0.2936 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.419, "sd_percent_ciliated": 0.419, "z_score": 0.419 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6371, "sd_percent_ciliated": -5.6371, "z_score": -5.6371 } ] }, { "gene": "PRICKLE3", "ensembl_id": "ENSG00000012211", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "prickle planar cell polarity protein 3 [Source:HGNC Symbol,Acc:HGNC:6645]", "omim_id": "300111", "functional_summary": "Also known as PK3. Required for gamma-tubulin and Nedd1 recruitment to the basal body, necessary for basal body organization and cilia growth. Pk3 knockdown inhibites ciliogenesis (27062996).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.0523147E7", "complex_components": {}, "pfam_ids": ["PF00412", "PF06297"], "domain_descriptions": ["Zinc finger", "LIM-type", "PET domain", "PET prickle", "LIM1 prickle", "LIM2 prickle", "LIM3 prickle", "Prickle/Espinas/Testin"], "string_link": "https://string-db.org/network/9606/ENSG00000012211", "synonym": "LMO6", "ortholog_mouse": "Prickle3", "ortholog_c_elegans": "prkl-1", "ortholog_xenopus": "prickle3", "ortholog_zebrafish": "prickle3", "ortholog_drosophila": "esn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9977, "sd_percent_ciliated": -0.9977, "z_score": -0.9977, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKAA1", "ensembl_id": "ENSG00000132356", "overexpression_effects": "Not Reported", "lof_effects": "Decreased/Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase AMP-activated catalytic subunit alpha 1 [Source:HGNC Symbol,Acc:HGNC:9376]", "omim_id": "602739", "functional_summary": "PRKAA1 has localized in basal body.", "localization": "cilia,basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NME1", "PRKAA1", "PRKAB2", "PRKAG1", "ATP6V0C", "ATP6V0D1", "ATP6V1A", "ATP6V1B2", "AXIN1", "LAMTOR1", "LAMTOR2", "LAMTOR3", "LAMTOR4", "LAMTOR5", "PRKAB1", "STK11"], "pfam_ids": ["PF00069", "PF16579", "PF21147"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "KA1 domain/Ssp2", "C-terminal", "PRKAA1", "UBA-like autoinhibitory domain", "AMPK", "C-terminal adenylate sensor domain", "5'-AMP-activated protein kinase alpha 1 catalytic subunit", "C-terminal", "PRKAA1/2", "autoinhibitory domain"], "string_link": "https://string-db.org/network/9606/ENSG00000132356", "synonym": "AMPKA1", "ortholog_mouse": "Prkaa1", "ortholog_c_elegans": "aak-1, aak-2", "ortholog_xenopus": "prkaa1", "ortholog_zebrafish": "prkaa1", "ortholog_drosophila": "AMPKα", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.6091, "sd_percent_ciliated": 6.1784, "z_score": -1.0177, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5519, "sd_percent_ciliated": 1.5519, "z_score": 1.5519, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKAA2", "ensembl_id": "ENSG00000162409", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase AMP-activated catalytic subunit alpha 2 [Source:HGNC Symbol,Acc:HGNC:9377]", "omim_id": "600497", "functional_summary": "PRKAA2 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PRKAA2", "PRKAB2", "PRKAG3", "PRKAG1"], "pfam_ids": ["PF00069", "PF21147", "PF16579"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "KA1 domain/Ssp2", "C-terminal", "PRKAA2", "UBA-like autoinhibitory domain", "AMPK", "C-terminal adenylate sensor domain", "5'-AMP-activated protein kinase catalytic subunit alpha-2", "C-terminal", "PRKAA1/2", "autoinhibitory domain"], "string_link": "https://string-db.org/network/9606/ENSG00000162409", "synonym": "AMPK, AMPKA2, PRKAA", "ortholog_mouse": "Prkaa2", "ortholog_c_elegans": "aak-1, aak-2", "ortholog_xenopus": "prkaa2", "ortholog_zebrafish": "prkaa2", "ortholog_drosophila": "AMPKα", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.5251, "sd_percent_ciliated": 1.8879, "z_score": -0.301 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.48, "sd_percent_ciliated": 1.48, "z_score": 1.48 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.5244, "sd_percent_ciliated": -5.5244, "z_score": -5.5244 } ] }, { "gene": "PRKAB1", "ensembl_id": "ENSG00000111725", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase AMP-activated non-catalytic subunit beta 1 [Source:HGNC Symbol,Acc:HGNC:9378]", "omim_id": "602740", "functional_summary": "PRKAB1 has localized in transition zone.", "localization": "cilia,transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ATP6V0C", "ATP6V0D1", "ATP6V1A", "ATP6V1B2", "AXIN1", "LAMTOR1", "LAMTOR2", "LAMTOR3", "LAMTOR4", "LAMTOR5", "PRKAA1", "PRKAB1", "PRKAG1", "STK11"], "pfam_ids": ["PF16561", "PF04739"], "domain_descriptions": ["Association with the SNF1 complex (ASC) domain", "Immunoglobulin-like fold", "Immunoglobulin E-set", "AMP-activated protein kinase", "glycogen-binding domain", "ASC domain superfamily", "CRP1/MDG1 DNA-binding & kinase subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000111725", "ortholog_mouse": "Prkab1", "ortholog_c_elegans": "aakb-1, aakb-2", "ortholog_xenopus": "prkab1", "ortholog_zebrafish": "prkab1a, prkab1b", "ortholog_drosophila": "alc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.1851, "sd_percent_ciliated": 3.8595, "z_score": -0.0999, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.57, "sd_percent_ciliated": 1.57, "z_score": 1.57, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6019, "sd_percent_ciliated": -2.6019, "z_score": -2.6019, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKACA", "ensembl_id": "ENSG00000288516", "overexpression_effects": "Increased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cAMP-activated catalytic subunit alpha [Source:HGNC Symbol,Acc:HGNC:9380]", "omim_id": "601639", "functional_summary": "Catalytic subunit of PKA. At centriolar satellites. Part of a multimeric complex nucleated by PCM1. Phosphorylates NEK10 for CHIP-mediated ubiquiti tion and proteolysis resulting in cilia resorption. Patched1-ArhGAP36-PKA- Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation. 30598432", "localization": "cilia, basal body, Centrosome, Cytosol, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Reproduction & sperm, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "29581457, 30598432", "complex_components": ["AKAP12", "PDE4D", "PRKACA", "AKAP9", "KCNQ1", "PPP1CA", "PRKAR2A", "ADCY2", "AKAP5", "ARRB2", "RXFP1", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "PRKAR2B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000288516", "synonym": "PKACA", "ortholog_mouse": "Prkaca", "ortholog_c_elegans": "kin-1", "ortholog_xenopus": "prkaca", "ortholog_zebrafish": "prkacaa, prkacab", "ortholog_drosophila": "CG12069, Pka-C1, Pka-C2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.5316, "sd_percent_ciliated": 7.1994, "z_score": -0.906, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.76, "sd_percent_ciliated": 2.76, "z_score": 2.76, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4055, "sd_percent_ciliated": -2.4055, "z_score": -2.4055, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKACB", "ensembl_id": "ENSG00000142875", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cAMP-activated catalytic subunit beta [Source:HGNC Symbol,Acc:HGNC:9381]", "omim_id": "176892", "functional_summary": "PRKACB has localized in basal body.", "localization": "cilia,basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 35927022 ,35927022; 22007132", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "cAMP-dependent protein kinase catalytic subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000142875", "synonym": "PKACB", "ciliopathy": "Ellis-van Creveld Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Prkacb", "ortholog_c_elegans": "kin-1", "ortholog_xenopus": "prkaca, prkacb", "ortholog_zebrafish": "prkacba, prkacbb", "ortholog_drosophila": "CG12069, Pka-C1, Pka-C2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.2355, "sd_percent_ciliated": 0.7397, "z_score": -0.6995 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9171, "sd_percent_ciliated": -0.9171, "z_score": -0.9171 } ] }, { "gene": "PRKACG", "ensembl_id": "ENSG00000165059", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cAMP-activated catalytic subunit gamma [Source:HGNC Symbol,Acc:HGNC:9382]", "omim_id": "176893", "functional_summary": "Catalytic subunit of PKA. At centriolar satellites. Part of a multimeric complex nucleated by PCM1. Phosphorylates NEK10 for CHIP-mediated ubiquiti tion and proteolysis resulting in cilia resorption. Patched1-ArhGAP36-PKA- Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation. 30598432", "localization": "cilia, basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "20392267, 12514735, 26788466, 26245976", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "cAMP-dependent protein kinase catalytic subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000165059", "synonym": "PKACG", "ortholog_c_elegans": "kin-1", "ortholog_xenopus": "prkaca", "ortholog_zebrafish": "prkacab", "ortholog_drosophila": "CG12069, Pka-C1, Pka-C2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.788, "sd_percent_ciliated": 4.8921, "z_score": -0.2691 } ] }, { "gene": "PRKAG1", "ensembl_id": "ENSG00000181929", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase AMP-activated non-catalytic subunit gamma 1 [Source:HGNC Symbol,Acc:HGNC:9385]", "omim_id": "602742", "functional_summary": "PRKAG1 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PRKAA1", "PRKAB2", "PRKAG1", "PRKAA2", "ATP6V0C", "ATP6V0D1", "ATP6V1A", "ATP6V1B2", "AXIN1", "LAMTOR1", "LAMTOR2", "LAMTOR3", "LAMTOR4", "LAMTOR5", "PRKAB1", "STK11", "CSF2RB", "NOS3", "PRKAG3"], "pfam_ids": "PF00571", "domain_descriptions": ["CBS domain", "CBS domain superfamily", "AMP-activated protein kinase gamma/SDS23 families"], "string_link": "https://string-db.org/network/9606/ENSG00000181929", "ortholog_mouse": "Prkag1", "ortholog_c_elegans": "aakg-1, aakg-2, aakg-3", "ortholog_zebrafish": "prkag1", "ortholog_drosophila": "SNF4Aγ", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.5708, "sd_percent_ciliated": 6.2737, "z_score": 0.068 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.434, "sd_percent_ciliated": 0.434, "z_score": 0.434 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6367, "sd_percent_ciliated": -0.6367, "z_score": -0.6367 } ] }, { "gene": "PRKAR1B", "ensembl_id": "ENSG00000188191", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cAMP-dependent type I regulatory subunit beta [Source:HGNC Symbol,Acc:HGNC:9390]", "omim_id": "176911", "functional_summary": "P2Y12 purinergic receptor, adenylyl cyclases (i.e., AC4, AC6, and AC8), and protein ki se A (i.e., PKA RI-尾 and PKA RII-伪 regulatory subunits), exchange protein directly activated by cAMP (EPAC) isoform 2, and A-ki se anchoring proteins (i.e., AKAP150) are expressed in cholangiocyte cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.8687752E7", "complex_components": {}, "pfam_ids": ["PF02197", "PF00027"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "cAMP-dependent protein kinase regulatory subunit", "dimerization-anchoring domain", "cAMP-dependent protein kinase regulatory subunit", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "RIbeta", "dimerization/docking domain", "cAMP-dependent protein kinase regulatory subunit-like"], "string_link": "https://string-db.org/network/9606/ENSG00000188191", "ortholog_mouse": "Prkar1b", "ortholog_c_elegans": "kin-2", "ortholog_xenopus": "prkar1b", "ortholog_zebrafish": "prkar1b", "ortholog_drosophila": "Pka-R1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.7677, "sd_percent_ciliated": 7.6957, "z_score": 0.3342, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.111, "sd_percent_ciliated": 0.111, "z_score": 0.111, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8385, "sd_percent_ciliated": -2.8385, "z_score": -2.8385, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKAR2A", "ensembl_id": "ENSG00000114302", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cAMP-dependent type II regulatory subunit alpha [Source:HGNC Symbol,Acc:HGNC:9391]", "omim_id": "176910", "functional_summary": "P2Y12 purinergic receptor, adenylyl cyclases (i.e., AC4, AC6, and AC8), and protein ki se A (i.e., PKA RI-尾 and PKA RII-伪 regulatory subunits), exchange protein directly activated by cAMP (EPAC) isoform 2, and A-ki se anchoring proteins (i.e., AKAP150) are expressed in cholangiocyte cilia.", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "18687752 ,20016067", "complex_components": ["AKAP5", "PPP3CA", "PRKAR2A", "AKAP9", "KCNQ1", "PPP1CA", "PRKACA", "ADRB1", "PRKAR2B", "DLG1", "GSK3B", "GSKIP", "DNM1L", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "CBFA2T3", "PDE4A", "AKAP1", "AKAP8", "PDE7A"], "pfam_ids": ["PF00027", "PF02197"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "cAMP-dependent protein kinase regulatory subunit-like", "cAMP-dependent protein kinase regulatory subunit", "dimerization-anchoring domain", "cAMP-dependent protein kinase regulatory subunit", "Sperm surface protein Sp17"], "string_link": "https://string-db.org/network/9606/ENSG00000114302", "synonym": "PRKAR2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Prkar2a", "ortholog_xenopus": "prkar2a", "ortholog_zebrafish": "prkar2aa, prkar2ab", "ortholog_drosophila": "Pka-R2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.9633, "sd_percent_ciliated": 7.5183, "z_score": -0.0056, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.123, "sd_percent_ciliated": 0.123, "z_score": 0.123, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1889, "sd_percent_ciliated": -0.1889, "z_score": -0.1889, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKAR2B", "ensembl_id": "ENSG00000005249", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cAMP-dependent type II regulatory subunit beta [Source:HGNC Symbol,Acc:HGNC:9392]", "omim_id": "176912", "functional_summary": "PKARII尾 was colocalized with AKAP9 to centrosome-Golgi in all the wild type cells examined (PKA-mediated Gli2 and Gli3 phosphorylation is inhibited by Hedgehog sig ling in cilia and reduced in Talpid3 mutant).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.867382E7", "complex_components": ["AKAP1", "MYCBP", "PRKAR2B", "ADRB1", "AKAP5", "PRKAR2A", "GSKIP", "AKAP9", "CDK5RAP2", "MAPRE1", "MAPRE3", "PDE4DIP", "PRKACA", "CFAP91"], "pfam_ids": ["PF02197", "PF00027"], "domain_descriptions": ["Cyclic nucleotide-binding domain", "cAMP-dependent protein kinase regulatory subunit", "dimerization-anchoring domain", "cAMP-dependent protein kinase regulatory subunit", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding", "conserved site", "Cyclic nucleotide-binding domain superfamily", "cAMP-dependent protein kinase regulatory subunit-like"], "string_link": "https://string-db.org/network/9606/ENSG00000005249", "synonym": "PRKAR2", "ortholog_mouse": "Prkar2b", "ortholog_xenopus": "prkar2b", "ortholog_drosophila": "Pka-R2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.1691, "sd_percent_ciliated": 8.5224, "z_score": -1.1922 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.262, "sd_percent_ciliated": 0.262, "z_score": 0.262 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5401, "sd_percent_ciliated": -2.5401, "z_score": -2.5401 } ] }, { "gene": "PRKCG", "ensembl_id": "ENSG00000126583", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase C gamma [Source:HGNC Symbol,Acc:HGNC:9402]", "omim_id": "176980", "functional_summary": "Mutations in the PRKCG gene cause Spinocerebellar Ataxia (PMID: 14676051, 12644968).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "14676051, 12644968", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000126583", "synonym": "MGC57564, PKCC, PKCG, SCA14", "ortholog_mouse": "Prkcg", "ortholog_c_elegans": "pkc-2", "ortholog_xenopus": "prkcg", "ortholog_zebrafish": "prkcg", "ortholog_drosophila": "inaC, Pkc53E", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.5, "sd_percent_ciliated": 1.6499, "z_score": 1.0287, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0003, "sd_percent_ciliated": 0.0003, "z_score": 0.0003, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5116, "sd_percent_ciliated": -0.5116, "z_score": -0.5116, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKCI", "ensembl_id": "ENSG00000163558", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "protein kinase C iota [Source:HGNC Symbol,Acc:HGNC:9404]", "omim_id": "600539", "functional_summary": "Crumbs-associated Par3/Par6/aPKC polarity cassette localizes to cilia and regulates ciliogenesis (15324661).", "localization": "cilia, flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.5324661E7", "complex_components": ["ARHGAP17", "PARD3", "PRKCI", "PARD6B", "CDC42", "PARD6A", "RAC1", "KIF3A", "KIF3B", "CRB3", "PALS1", "PATJ", "YWHAZ", "LLGL2", "LLGL1", "MAP2K5", "SQSTM1", "PARD3B", "HOOK2"], "pfam_ids": ["PF00564", "PF00130", "PF00069", "PF00433"], "domain_descriptions": ["PB1 domain", "Protein kinase domain", "AGC-kinase", "C-terminal", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase C", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "Diacylglycerol/phorbol-ester binding", "Atypical protein kinase C iota type", "catalytic domain", "Protein kinase C", "PB1 domain", "C1-like domain superfamily", "PB1-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000163558", "synonym": "DXS1179E, PKCI", "ortholog_mouse": "Prkci", "ortholog_c_elegans": "pkc-3", "ortholog_xenopus": "prkci", "ortholog_zebrafish": "prkci", "ortholog_drosophila": "aPKC", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.5932, "sd_percent_ciliated": 4.2497, "z_score": 1.2823 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0418, "sd_percent_ciliated": 0.0418, "z_score": 0.0418 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.393, "sd_percent_ciliated": -3.393, "z_score": -3.393 } ] }, { "gene": "PRKCZ", "ensembl_id": "ENSG00000067606", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "protein kinase C zeta [Source:HGNC Symbol,Acc:HGNC:9412]", "omim_id": "176982", "functional_summary": "PRKCZ has localized in basal body.", "localization": "basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CDC42", "PARD3", "PARD6A", "PRKCZ", "MSH2", "MSH6", "DDR1", "WWC1", "NHERF1", "VAMP2", "WDFY2", "SQSTM1", "TRAF6", "ECT2", "PAWR", "PDPK1", "PRG2"], "pfam_ids": ["PF00069", "PF00433", "PF00130", "PF00564"], "domain_descriptions": ["PB1 domain", "Protein kinase domain", "AGC-kinase", "C-terminal", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase C", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "Diacylglycerol/phorbol-ester binding", "Atypical Protein Kinase C zeta", "catalytic domain", "Protein kinase C", "PB1 domain", "C1-like domain superfamily", "Protein kinase C zeta type", "conserved region 1", "PB1-like domain", "Serine/threonine-protein kinases", "AGC"], "string_link": "https://string-db.org/network/9606/ENSG00000067606", "synonym": "PKC2", "ortholog_mouse": "Prkcz", "ortholog_c_elegans": "pkc-3", "ortholog_xenopus": "prkcz", "ortholog_zebrafish": "prkcz", "ortholog_drosophila": "aPKC", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.3415, "sd_percent_ciliated": 6.2235, "z_score": 0.7672 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.01, "sd_percent_ciliated": 6.01, "z_score": 6.01 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1363, "sd_percent_ciliated": -0.1363, "z_score": -0.1363 } ] }, { "gene": "PRKD1", "ensembl_id": "ENSG00000184304", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase D1 [Source:HGNC Symbol,Acc:HGNC:9407]", "omim_id": "605435", "functional_summary": "Golga2 and prkd1 are expressed at later stage in the developing pronephric tubule where golgin A2 and protein ki se‐D1 might also interact with TRPP2 ( 30171710).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "3.017171E7", "complex_components": {}, "pfam_ids": ["PF00169", "PF00069", "PF00130"], "domain_descriptions": ["Protein kinase domain", "Pleckstrin homology domain", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PH-like domain superfamily", "Protein kinase C mu-related", "Protein kinase", "ATP binding site", "Diacylglycerol/phorbol-ester binding", "C1-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000184304", "synonym": "PKC-MU, PKCM, PKD, PRKCM", "ortholog_mouse": "Prkd1", "ortholog_c_elegans": "dkf-2", "ortholog_xenopus": "prkd1", "ortholog_zebrafish": "prkd1", "ortholog_drosophila": "PKD", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 10.1, "sd_percent_ciliated": 10.1, "z_score": 10.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6949, "sd_percent_ciliated": -3.6949, "z_score": -3.6949, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKD3", "ensembl_id": "ENSG00000115825", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase D3 [Source:HGNC Symbol,Acc:HGNC:9408]", "omim_id": "607077", "functional_summary": "PRKD3 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00169", "PF00069", "PF00130"], "domain_descriptions": ["Protein kinase domain", "Pleckstrin homology domain", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PH-like domain superfamily", "Protein kinase C mu-related", "Protein kinase", "ATP binding site", "Diacylglycerol/phorbol-ester binding", "C1-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000115825", "synonym": "EPK2, PRKCN", "ortholog_mouse": "Prkd3", "ortholog_c_elegans": "dkf-2", "ortholog_zebrafish": "prkd3", "ortholog_drosophila": "PKD", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5057, "sd_percent_ciliated": -1.5057, "z_score": -1.5057, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRKG2", "ensembl_id": "ENSG00000138669", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein kinase cGMP-dependent 2 [Source:HGNC Symbol,Acc:HGNC:9416]", "omim_id": "601591", "functional_summary": "Mutations in the PRKG2 gene cause Spondylometaphyseal Dysplasia (PMID: 34782440).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, ECM & connective tissue", "reference": "3.478244E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000138669", "synonym": "CGKII, PKG2, PRKGR2", "ortholog_mouse": "Prkg2", "ortholog_c_elegans": "egl-4", "ortholog_xenopus": "prkg2", "ortholog_zebrafish": "prkg2", "ortholog_drosophila": "Pkg21D", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.3192, "z_score": -1.1884, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 26.1154, "z_score": -1.441, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.3444 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.22, "z_score": 1.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.22 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.622, "z_score": -2.622, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.622 } ] }, { "gene": "PRLHR", "ensembl_id": "ENSG00000119973", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prolactin releasing hormone receptor [Source:HGNC Symbol,Acc:HGNC:4464]", "omim_id": "600895", "functional_summary": "PRLHR, also known as GPR10, was identified as a receptor for PRLH [9607765]. Prlhr-knockout mice and Prlhr-null rats (OLETF rats) exhibited obesity and hyperphagia [14742914], and PRLHR localizes to cilia (26053317).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "9607765 , 14742914 , 26053317", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Prolactin-releasing peptide receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000119973", "synonym": "GPR10, PRRPR", "ortholog_mouse": "Prlhr", "ortholog_c_elegans": "npr-1, npr-10, npr-13, npr-4, npr-5", "ortholog_xenopus": "prlhr, XB982628", "ortholog_zebrafish": "prlhr2a, prlhr2b", "ortholog_drosophila": "sNPF-R", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.444, "sd_percent_ciliated": 0.444, "z_score": 0.444, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.5967, "sd_percent_ciliated": -4.5967, "z_score": -4.5967, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PROM1", "ensembl_id": "ENSG00000007062", "overexpression_effects": "Unkown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "prominin 1 [Source:HGNC Symbol,Acc:HGNC:9454]", "omim_id": "604365", "functional_summary": "Controls recruitment of ciliary membrane components, histone deacetylase, and transcription factors in stem cells. Mutations cause various human reti l disorders. Prom1 was not required for multicilia formation, but when inactivated resulted in longer cilia that beat at a lower frequency.", "localization": "basal body, cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transcription regulation", "reference": "35942101, 26167768, 30315276, 10587575, 26702251 ,26702251; NA", "complex_components": ["Cdhr1", "PROM1"], "pfam_ids": "PF05478", "domain_descriptions": "Prominin", "string_link": "https://string-db.org/network/9606/ENSG00000007062", "synonym": "AC133, CD133, CORD12, MCDR2, PROML1, RP41, STGD4", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Prom1", "ortholog_c_elegans": "prmn-1", "ortholog_xenopus": "prom1", "ortholog_zebrafish": "prom1a, prom1b", "ortholog_drosophila": "CG45067, promL", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8221, "z_score": 0.4169, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 48.4746, "z_score": 1.2679, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.528 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.78, "z_score": 1.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.78 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8508, "z_score": -1.8508, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.8508 } ] }, { "gene": "PROM2", "ensembl_id": "ENSG00000155066", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prominin 2 [Source:HGNC Symbol,Acc:HGNC:20685]", "omim_id": "617160", "functional_summary": "prominin-2-GFP, like prominin-1 , was also found in cilia (revealed with anti-acetylated tubulin antibody) essentially at the bulging tip (17109118).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane", "reference": "1.7109118E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000155066", "ortholog_mouse": "Prom2", "ortholog_c_elegans": "prmn-1", "ortholog_xenopus": "prom2", "ortholog_zebrafish": "prom2", "ortholog_drosophila": "prom, promL", "screens": {} }, { "gene": "PRPF31", "ensembl_id": "ENSG00000275117", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "pre-mRNA processing factor 31 [Source:HGNC Symbol,Acc:HGNC:15446]", "omim_id": "606419", "functional_summary": "Mutated in autosomal domi nt RP type 11. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis (26167768). PRPF31 loss negatively regulates ciliogenesis, causing defects in cilia incidence and structural organisation (30315276).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "26167768, 11773002, 11545739 ,11545739; 11773002", "complex_components": ["ASH2L", "BAP18", "CHD8", "E2F6", "HCFC1", "HSPA4", "INO80C", "KANSL1", "KAT8", "KMT2A", "LAS1L", "MCRS1", "MGAM", "PELP1", "PHF20", "PRPF31", "RBBP5", "RNF2", "RUVBL1", "SENP3", "TAF1", "TAF4", "TAF6", "TAF7", "TAF9", "TEX10", "WDR5", "DDX23", "EFTUD2", "LSM2", "LSM3", "LSM4", "LSM5", "LSM6", "LSM7", "LSM8", "PHF5A", "PRPF3", "PRPF4", "PRPF6", "PRPF8", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNU13", "TXNL4A", "USP39", "MFAP1", "PPIH", "PRPF38A", "SART1", "SMU1", "UBL5", "WBP4", "ZMAT2", "ACTBL2", "ACTL6A", "ALYREF", "ARID1A", "ARID1B", "ARID2", "BCAS2", "CHD4", "CHERP", "CPSF1", "CPSF6", "CPSF7", "DDX17", "DDX20", "DDX39A", "DDX39B", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "FUS", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPA1", "HNRNPA2B1", "HNRNPC", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPL", "HNRNPM", "HNRNPR", "HNRNPU", "HTATSF1", "KHSRP", "LUC7L2", "LUC7L3", "MTREX", "NCBP1", "NCBP2", "NUDT21", "PBRM1", "PCBP1", "PCBP2", "PRPF19", "PRPF40A", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM42", "RBM7", "RBMXL2", "RUVBL2", "SART3", "SCAF4", "SF1", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP70", "SNRPA", "SNRPC", "SREK1", "SRRM2", "SRRT", "SRSF1", "SRSF11", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF8", "STRAP", "SYNCRIP", "U2AF1", "U2AF2", "U2SURP", "YBX1", "ZCCHC8"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000275117", "synonym": "HPRP31, NY-BR-99, PRP31, RP11, SNRNP61", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Prpf31", "ortholog_c_elegans": "prp-31", "ortholog_xenopus": "prpf31", "ortholog_zebrafish": "prpf31", "ortholog_drosophila": "Prp31", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.6261, "sd_percent_ciliated": 2.0781, "z_score": -0.8945 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.66, "sd_percent_ciliated": 7.66, "z_score": 7.66 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -12.9155, "sd_percent_ciliated": -12.9155, "z_score": -12.9155 } ] }, { "gene": "PRPF4", "ensembl_id": "ENSG00000136875", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pre-mRNA splicing tri-snRNP complex factor PRPF4 [Source:HGNC Symbol,Acc:HGNC:17349]", "omim_id": "607795", "functional_summary": "PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, and SNRNP200, are mutated in autosomal dominant retinitis pigmentosa (adRP). These proteins have been shown to localize to the base of the connecting cilium of the retinal photoreceptor cells, elucidating this form of RP as a retinal ciliopathy(PMID: 30967900).", "localization": "Cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.09679002441931E14", "complex_components": ["PPIH", "PRPF3", "PRPF4", "DDX23", "EFTUD2", "LSM2", "LSM3", "LSM4", "LSM5", "LSM6", "LSM7", "LSM8", "PHF5A", "PRPF31", "PRPF6", "PRPF8", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNU13", "TXNL4A", "USP39", "MFAP1", "PRPF38A", "SART1", "SMU1", "UBL5", "WBP4", "ZMAT2", "ACTBL2", "ACTL6A", "ALYREF", "ARID1A", "ARID1B", "ARID2", "BCAS2", "CHD4", "CHD8", "CHERP", "CPSF1", "CPSF6", "CPSF7", "DDX17", "DDX20", "DDX39A", "DDX39B", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "FUS", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPA1", "HNRNPA2B1", "HNRNPC", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPL", "HNRNPM", "HNRNPR", "HNRNPU", "HTATSF1", "KHSRP", "LUC7L2", "LUC7L3", "MTREX", "NCBP1", "NCBP2", "NUDT21", "PBRM1", "PCBP1", "PCBP2", "PRPF19", "PRPF40A", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART3", "SCAF4", "SF1", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP70", "SNRPA", "SNRPC", "SREK1", "SRRM2", "SRRT", "SRSF1", "SRSF11", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF8", "STRAP", "SYNCRIP", "U2AF1", "U2AF2", "U2SURP", "YBX1", "ZCCHC8"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000136875", "synonym": "PRPF4,PRPF4,ENSG00000136875, PRP4, RP70, HPRP4, Prp4p, HPRP4P, SNRNP60", "ortholog_mouse": "Prpf4", "ortholog_c_elegans": "prp-4", "ortholog_xenopus": "prpf4", "ortholog_zebrafish": "prpf4", "ortholog_drosophila": "U4-U6-60K", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.6716, "sd_percent_ciliated": 1.8498, "z_score": -1.2525 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.82, "sd_percent_ciliated": 3.82, "z_score": 3.82 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.7839, "sd_percent_ciliated": -4.7839, "z_score": -4.7839 } ] }, { "gene": "PRPF6", "ensembl_id": "ENSG00000101161", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "pre-mRNA processing factor 6 [Source:HGNC Symbol,Acc:HGNC:15860]", "omim_id": "613979", "functional_summary": "Mutated in autosomal domi nt RP type 60. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis (26167768).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "26167768, 21549338", "complex_components": ["ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8", "LSM4", "LSM5", "LSM6", "LSM7", "LSM8", "PHF5A", "PRPF3", "PRPF31", "PRPF4", "SF3B4", "SF3B5", "SF3B6", "SNU13", "TXNL4A", "USP39", "MFAP1", "PPIH", "PRPF38A", "SMU1", "UBL5", "WBP4", "ZMAT2", "ACIN1", "AGGF1", "BCAS2", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "DDX17", "DDX42", "DDX46", "DHX15", "DHX9", "DNAJC8", "ELAVL1", "FUS", "HNRNPAB", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF40A", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RNPS1", "SAP30BP", "SEC31B", "SF1", "SMNDC1", "SNRNP70", "SNRPA", "SNRPC", "SRRT", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "TCERG1", "TRA2B", "TRIR", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207", "ACTBL2", "ACTL6A", "ARID1A", "ARID1B", "ARID2", "CHD4", "CHD8", "CPSF1", "CPSF6", "CPSF7", "DDX20", "DDX39A", "DDX39B", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPD", "HNRNPL", "KHSRP", "LUC7L2", "LUC7L3", "NUDT21", "PBRM1", "PCBP2", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART3", "SCAF4", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SREK1", "SRSF11", "SRSF8", "STRAP", "AR", "NR3C1"], "pfam_ids": ["PF06424", "PF13432", "PF14559", "PF05843"], "domain_descriptions": ["HAT (Half-A-TPR) repeat", "PRP1 splicing factor", "N-terminal", "Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Pre-mRNA-splicing factor Syf1-like", "Suppressor of forked"], "string_link": "https://string-db.org/network/9606/ENSG00000101161", "synonym": "ANT-1, BB152O15.1, C20ORF14, HPRP6, PRP6, RP60, SNRNP102, TOM, U5-102K", "ortholog_mouse": "Prpf6", "ortholog_c_elegans": "prp-6", "ortholog_xenopus": "prpf6", "ortholog_zebrafish": "prpf6", "ortholog_drosophila": "Prp6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 19.5, "sd_percent_ciliated": 19.5, "z_score": 19.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.6546, "sd_percent_ciliated": -9.6546, "z_score": -9.6546, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRPF8", "ensembl_id": "ENSG00000274442", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "pre-mRNA processing factor 8 [Source:HGNC Symbol,Acc:HGNC:17340]", "omim_id": "607300", "functional_summary": "Mutated in autosomal domi nt RP type 13. Splicing factor implicated in the correct splicing of transcripts encoding proteins important for ciliogenesis. It has been implicated in the process of centriolar under-duplication (26167768).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "30819798, 23886945, 25805137", "complex_components": ["DHX15", "PDCD7", "PRPF8", "RNPC3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SNRNP25", "SNRNP35", "SNRNP48", "SNRPB", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "YBX1", "ZCRB1", "ZMAT5", "ZRSR2", "DDX21", "DHX9", "HNRNPC", "SRPK1", "SSRP1", "TOP2A", "ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB2", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8", "ABCF2", "DDB1", "EEF1A1", "EEF1G", "HSPA5", "MATR3", "MSH2", "PFKL", "SFPQ", "TUBB", "UBR5", "BCAS2", "BUD31", "CASC3", "CWC25", "PPIG", "YJU2", "LSM4", "LSM5", "LSM6", "LSM7", "LSM8", "PHF5A", "PRPF3", "PRPF31", "PRPF4", "SNU13", "TXNL4A", "USP39", "MFAP1", "PPIH", "PRPF38A", "SMU1", "UBL5", "WBP4", "ZMAT2", "ACIN1", "AGGF1", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "DDX17", "DDX42", "DDX46", "DNAJC8", "ELAVL1", "FUS", "HNRNPAB", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF40A", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RNPS1", "SAP30BP", "SEC31B", "SF1", "SMNDC1", "SNRNP70", "SNRPA", "SNRPC", "SRRT", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "TCERG1", "TRA2B", "TRIR", "U2AF2", "U2SURP", "WBP11", "ZC3H18", "ZNF207", "ACTBL2", "ACTL6A", "ARID1A", "ARID1B", "ARID2", "CHD4", "CHD8", "CPSF1", "CPSF6", "CPSF7", "DDX20", "DDX39A", "DDX39B", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPD", "HNRNPL", "KHSRP", "LUC7L2", "LUC7L3", "NUDT21", "PBRM1", "PCBP2", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART3", "SCAF4", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SREK1", "SRSF11", "SRSF8", "STRAP"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000274442", "synonym": "HPRP8, PRP8, PRPC8, RP13, SNRNP220", "ortholog_mouse": "Prpf8", "ortholog_c_elegans": "prp-8", "ortholog_xenopus": "prpf8", "ortholog_zebrafish": "prpf8", "ortholog_drosophila": "Prp8", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.8225, "z_score": -1.6578, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 14.3634, "z_score": -2.8648, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.5519 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 17.4, "z_score": 17.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 17.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -18.494, "z_score": -18.494, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -18.494 } ] }, { "gene": "PRPH2", "ensembl_id": "ENSG00000112619", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "peripherin 2 [Source:HGNC Symbol,Acc:HGNC:9942]", "omim_id": "179605", "functional_summary": "Photoreceptor-specific tetraspanin protein, essential for the morphogenesis of the outer segment (30819798). Role in generating and/or sensing the curvature associated with creation and mainte nce of OS membrane architecture (23886945). Mutations are associated with RP (25805137).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17641202, 32435793, 23847139 ,23847139; 8202715", "complex_components": {}, "pfam_ids": "PF00335", "domain_descriptions": ["Peripherin/rom-1", "Tetraspanin", "EC2 domain superfamily", "Peripherin/rom-1", "conserved site", "Tetraspanin/Peripherin", "Peripherin", "extracellular domain"], "string_link": "https://string-db.org/network/9606/ENSG00000112619", "synonym": "CACD2, RD2, RDS, RP7, TSPAN22", "ciliopathy": "Leber Congenital Amaurosis; Retinitis Pigmentosa", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Prph2", "ortholog_xenopus": "prph2l", "ortholog_zebrafish": "prph2a, prph2b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0831, "sd_percent_ciliated": -3.0831, "z_score": -3.0831, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PRPS2", "ensembl_id": "ENSG00000101911", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "phosphoribosyl pyrophosphate synthetase 2 [Source:HGNC Symbol,Acc:HGNC:9465]", "omim_id": "311860", "functional_summary": "PRPS2 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF13793", "PF14572"], "domain_descriptions": ["Ribose-phosphate pyrophosphokinase", "Phosphoribosyltransferase-like", "Ribose-phosphate pyrophosphokinase", "N-terminal domain", "Phosphoribosyltransferase domain", "Phosphoribosyl pyrophosphate synthetase", "conserved site", "Ribose-phosphate pyrophosphokinase", "bacterial-type"], "string_link": "https://string-db.org/network/9606/ENSG00000101911", "ortholog_mouse": "Prps2", "ortholog_c_elegans": "prps-1", "ortholog_xenopus": "prps2", "ortholog_drosophila": "Prps", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.5389, "sd_percent_ciliated": 2.6028, "z_score": 0.1853 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0282, "sd_percent_ciliated": 0.0282, "z_score": 0.0282 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8855, "sd_percent_ciliated": -1.8855, "z_score": -1.8855 } ] }, { "gene": "PSD3", "ensembl_id": "ENSG00000156011", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pleckstrin and Sec7 domain containing 3 [Source:HGNC Symbol,Acc:HGNC:19093]", "omim_id": "614440", "functional_summary": "PSD3 has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF01369", "PF15410"], "domain_descriptions": ["Sec7 domain", "Pleckstrin homology domain", "PH-like domain superfamily", "Sec7", "C-terminal domain superfamily", "Sec7 domain superfamily", "Pleckstrin homology domain 9", "Pleckstrin homology domain", "spectrin-type"], "string_link": "https://string-db.org/network/9606/ENSG00000156011", "synonym": "DKFZP761K1423, EFA6D, EFA6R, HCA67, KIAA0942", "ortholog_mouse": "Psd3", "ortholog_c_elegans": "efa-6", "ortholog_xenopus": "psd3", "ortholog_zebrafish": "psd3l", "ortholog_drosophila": "Efa6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.9, "sd_percent_ciliated": 2.9, "z_score": 2.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.4694, "sd_percent_ciliated": 2.4694, "z_score": 2.4694, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PSEN1", "ensembl_id": "ENSG00000080815", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "presenilin 1 [Source:HGNC Symbol,Acc:HGNC:9508]", "functional_summary": "Notch-sig ling defects in embryos and cultured keratinocytes depleted of Presenilin-1 and Presenilin-2(27354375).", "localization": "cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7354375E7", "complex_components": ["APH1A", "BSG", "NCSTN", "PSEN1", "PSENEN", "CDH1", "CTNNA1", "CTNNB1", "APH1B", "DLL1", "TMED10", "APP"], "pfam_ids": "PF01080", "domain_descriptions": ["Peptidase A22A", "presenilin", "Peptidase A22A", "presenilin 1", "Presenilin/signal peptide peptidase", "Presenilin", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000080815", "synonym": "AD3, FAD, PS-1, PS1, PSNL1, S182", "ortholog_mouse": "Psen1", "ortholog_c_elegans": "sel-12", "ortholog_xenopus": "psen1", "ortholog_zebrafish": "psen1", "ortholog_drosophila": "Psn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.1337, "sd_percent_ciliated": 2.1432, "z_score": -0.3484 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.21, "sd_percent_ciliated": 1.21, "z_score": 1.21 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8236, "sd_percent_ciliated": -0.8236, "z_score": -0.8236 } ] }, { "gene": "PSEN2", "ensembl_id": "ENSG00000143801", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "presenilin 2 [Source:HGNC Symbol,Acc:HGNC:9509]", "functional_summary": "Notch-processing enzyme Presenilin-2(PSEN2 )targets to the basal body (centrosome), and this localization is required for proper differentiation and optimal activation of Notch sig l transduction(27354375).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7354375E7", "complex_components": ["APH1B", "NCSTN", "PSEN2", "PSENEN", "APH1A", "APP"], "pfam_ids": "PF01080", "domain_descriptions": ["Peptidase A22A", "presenilin", "Peptidase A22A", "presenilin 2", "Presenilin/signal peptide peptidase", "Presenilin", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000143801", "synonym": "AD3L, AD4, E5-1, PS-2, PS2, STM2", "ortholog_mouse": "Psen2", "ortholog_c_elegans": "hop-1, sel-12, spe-4", "ortholog_xenopus": "psen2", "ortholog_zebrafish": "psen2", "ortholog_drosophila": "Psn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.6043, "sd_percent_ciliated": 6.4966, "z_score": -0.6549 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.48, "sd_percent_ciliated": 2.48, "z_score": 2.48 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8459, "sd_percent_ciliated": -1.8459, "z_score": -1.8459 } ] }, { "gene": "PSKH1", "ensembl_id": "ENSG00000159792", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein serine kinase H1 [Source:HGNC Symbol,Acc:HGNC:9529]", "omim_id": "177015", "functional_summary": "PSKH1 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000159792", "ortholog_mouse": "Pskh1", "ortholog_c_elegans": "R06A10.4", "ortholog_xenopus": "pskh1", "ortholog_zebrafish": "pskh1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.1882, "sd_percent_ciliated": 8.829, "z_score": -0.4629 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.13, "sd_percent_ciliated": 2.13, "z_score": 2.13 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.8449, "sd_percent_ciliated": -3.8449, "z_score": -3.8449 } ] }, { "gene": "PSMA4", "ensembl_id": "ENSG00000041357", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 20S subunit alpha 4 [Source:HGNC Symbol,Acc:HGNC:9533]", "omim_id": "176846", "functional_summary": "PSMA4 has localized in basal body,flagella.", "localization": "basal body,flagella, Cytosol, Nucleus, P-body", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD13", "PSMD4", "PSME1", "PSME2", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD14", "PSMD2", "PSMD3", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSME3", "Psma1", "Psma2", "Psma3", "Psma4", "Psma5", "Psma6", "Psma7", "Psmb1", "Psmb2", "Psmb3", "Psmb4", "Psmb5", "Psmb6", "Psmb7"], "pfam_ids": ["PF00227", "PF10584"], "domain_descriptions": ["Proteasome", "subunit alpha/beta", "Proteasome alpha-type subunit", "Nucleophile aminohydrolases", "N-terminal", "Proteasome subunit alpha", "Proteasome alpha-subunit", "N-terminal domain", "Proteasome beta-type subunit", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000041357", "synonym": "HC9, HST17706", "ortholog_mouse": "Psma4", "ortholog_c_elegans": "pas-3", "ortholog_xenopus": "psma4", "ortholog_zebrafish": "psma4", "ortholog_drosophila": "Prosα3, Prosα3T", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.0493, "sd_percent_ciliated": 11.7194, "z_score": -0.7221 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.19, "sd_percent_ciliated": 9.19, "z_score": 9.19 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.499, "sd_percent_ciliated": -9.499, "z_score": -9.499 } ] }, { "gene": "PSMA6", "ensembl_id": "ENSG00000100902", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 20S subunit alpha 6 [Source:HGNC Symbol,Acc:HGNC:9535]", "omim_id": "602855", "functional_summary": "PSMA6 localized at cilia", "localization": "cilia, Cytosol, Nucleus, P-body", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD13", "PSMD4", "PSME1", "PSME2", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD14", "PSMD2", "PSMD3", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSME3", "UBE3A", "UBQLN1", "UBQLN2", "", "Psma7", "PSMA8", "PSMB10", "PSMB8", "Psmb9", "Psme4", "Psma1", "Psma2", "Psma3", "Psma4", "Psma5", "Psma6", "Psmb1", "Psmb2", "Psmb3", "Psmb4", "Psmb5", "Psmb6", "Psmb7"], "pfam_ids": ["PF00227", "PF10584"], "domain_descriptions": ["Proteasome", "subunit alpha/beta", "Proteasome alpha-type subunit", "Nucleophile aminohydrolases", "N-terminal", "Proteasome subunit alpha6", "Proteasome subunit alpha", "Proteasome alpha-subunit", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000100902", "synonym": "IOTA, MGC22756, MGC2333, MGC23846, P27K, PROS27", "ortholog_mouse": "Psma6", "ortholog_c_elegans": "pas-1", "ortholog_xenopus": "psma6", "ortholog_zebrafish": "psma6a, psma6b, psma6l", "ortholog_drosophila": "Prosα1, Prosα1R", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.9508, "z_score": -1.6979, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.3519, "z_score": -2.2605, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.5267 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 14.3, "z_score": 14.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 14.3 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.1314, "z_score": -10.1314, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -10.1314 } ] }, { "gene": "PSMA7", "ensembl_id": "ENSG00000101182", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 20S subunit alpha 7 [Source:HGNC Symbol,Acc:HGNC:9536]", "omim_id": "606607", "functional_summary": "PSMA7 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD13", "PSMD4", "PSME1", "PSME2", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD14", "PSMD2", "PSMD3", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSME3", "Psma1", "Psma2", "Psma3", "Psma4", "Psma5", "Psma6", "Psma7", "Psmb1", "Psmb2", "Psmb3", "Psmb4", "Psmb5", "Psmb6", "Psmb7"], "pfam_ids": ["PF00227", "PF10584"], "domain_descriptions": ["Proteasome", "subunit alpha/beta", "Proteasome alpha-type subunit", "Nucleophile aminohydrolases", "N-terminal", "Proteasome subunit alpha", "Proteasome alpha-subunit", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000101182", "synonym": "C6, HSPC, RC6-1, XAPC7", "ortholog_mouse": "C6, Psma7", "ortholog_c_elegans": "pas-4", "ortholog_xenopus": "c6, c6.2, psma7", "ortholog_zebrafish": "c6.1", "ortholog_drosophila": "Prosα4, Prosα4T1, Prosα4T2", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.3108, "z_score": -1.8103, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 17.4112, "z_score": -2.4956, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.0282 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 9.9, "z_score": 9.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 9.9 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.0454, "z_score": -13.0454, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -13.0454 } ] }, { "gene": "PSMA8", "ensembl_id": "ENSG00000154611", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 20S subunit alpha 8 [Source:HGNC Symbol,Acc:HGNC:22985]", "omim_id": "617841", "functional_summary": "PSMA8 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["", "PSMA2", "PSMA3", "PSMA5", "PSMA6", "Psma7", "PSMA8", "PSMB10", "PSMB3", "PSMB4", "PSMB6", "PSMB7", "PSMB8", "Psmb9", "Psme4"], "pfam_ids": ["PF00227", "PF10584"], "domain_descriptions": ["Proteasome alpha-subunit", "N-terminal domain", "Proteasome", "subunit alpha/beta", "Proteasome alpha-type subunit", "Nucleophile aminohydrolases", "N-terminal", "Proteasome subunit alpha"], "string_link": "https://string-db.org/network/9606/ENSG00000154611", "synonym": "MGC26605, PSMA7L", "ortholog_mouse": "Psma8", "ortholog_c_elegans": "pas-4", "ortholog_zebrafish": "psma8", "ortholog_drosophila": "Prosα4, Prosα4T1, Prosα4T2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.01, "sd_percent_ciliated": 1.01, "z_score": 1.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PSMB5", "ensembl_id": "ENSG00000100804", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 20S subunit beta 5 [Source:HGNC Symbol,Acc:HGNC:9542]", "omim_id": "600306", "functional_summary": "PSMB5 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD13", "PSMD4", "PSME1", "PSME2", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD14", "PSMD2", "PSMD3", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSME3", "Psma1", "Psma2", "Psma3", "Psma4", "Psma5", "Psma6", "Psma7", "Psmb1", "Psmb2", "Psmb3", "Psmb4", "Psmb5", "Psmb6", "Psmb7"], "pfam_ids": "PF00227", "domain_descriptions": ["Proteasome", "subunit alpha/beta", "Proteasome beta-type subunit", "conserved site", "Proteasome B-type subunit", "Nucleophile aminohydrolases", "N-terminal", "Peptidase T1A", "proteasome beta-subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000100804", "synonym": "MB1", "ortholog_mouse": "Psmb5", "ortholog_c_elegans": "pbs-5", "ortholog_xenopus": "psmb5", "ortholog_zebrafish": "psmb5", "ortholog_drosophila": "Prosβ5, Prosβ5R1, Prosβ5R2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.8183, "sd_percent_ciliated": 1.8399, "z_score": 0.4615 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 34.2, "sd_percent_ciliated": 34.2, "z_score": 34.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.152, "sd_percent_ciliated": -6.152, "z_score": -6.152 } ] }, { "gene": "PSMB7", "ensembl_id": "ENSG00000136930", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 20S subunit beta 7 [Source:HGNC Symbol,Acc:HGNC:9544]", "omim_id": "604030", "functional_summary": "PSMB7 has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD13", "PSMD4", "PSME1", "PSME2", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD14", "PSMD2", "PSMD3", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSME3", "", "Psma7", "PSMA8", "PSMB10", "PSMB8", "Psmb9", "Psme4", "Psma1", "Psma2", "Psma3", "Psma4", "Psma5", "Psma6", "Psmb1", "Psmb2", "Psmb3", "Psmb4", "Psmb5", "Psmb6", "Psmb7"], "pfam_ids": ["PF12465", "PF00227"], "domain_descriptions": ["Peptidase T1A", "proteasome beta-subunit", "Proteasome", "subunit alpha/beta", "Proteasome beta-type subunit", "conserved site", "Proteasome B-type subunit", "Proteasome beta subunit", "C-terminal", "Nucleophile aminohydrolases", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000136930", "synonym": "Z", "ortholog_mouse": "Psmb7", "ortholog_c_elegans": "pbs-2", "ortholog_xenopus": "psmb7", "ortholog_zebrafish": "psmb7", "ortholog_drosophila": "Prosβ2, Prosβ2R1, Prosβ2R2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.0787, "sd_percent_ciliated": 0.0551, "z_score": 0.7353 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 29.3, "sd_percent_ciliated": 29.3, "z_score": 29.3 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -12.5423, "sd_percent_ciliated": -12.5423, "z_score": -12.5423 } ] }, { "gene": "PSMC4", "ensembl_id": "ENSG00000281221", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 26S subunit, ATPase 4 [Source:HGNC Symbol,Acc:HGNC:9551]", "omim_id": "602707", "functional_summary": "PSMC4 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD13", "PSMD14", "PSMD2", "PSMD3", "PSMD4", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSME1", "PSME2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281221", "synonym": "MGC13687, MGC23214, MGC8570, MIP224, RPT3, S6, TBP-7, TBP7", "ortholog_mouse": "Psmc4", "ortholog_c_elegans": "rpt-3", "ortholog_xenopus": "psmc4", "ortholog_zebrafish": "psmc4", "ortholog_drosophila": "Rpt3, Rpt3R", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8431, "z_score": 0.4234, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.8342, "z_score": 2.1596, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.387 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 11.9, "z_score": 11.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 11.9 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.6853, "z_score": -12.6853, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -12.6853 } ] }, { "gene": "PSMD10", "ensembl_id": "ENSG00000101843", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 26S subunit, non-ATPase 10 [Source:HGNC Symbol,Acc:HGNC:9555]", "omim_id": "300880", "functional_summary": "PSMD10 localized at cilia", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD13", "PSMD14", "PSMD2", "PSMD3", "PSMD4", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSME1", "PSME2"], "pfam_ids": ["PF00023", "PF12796", "PF13637"], "domain_descriptions": ["Ankyrin repeat", "Ankyrin repeat-containing domain superfamily", "Ankyrin repeat domain-containing protein 49", "Ankyrin Repeat and Cyclin-Dependent Kinase Inhibitor"], "string_link": "https://string-db.org/network/9606/ENSG00000101843", "synonym": "P28", "ortholog_mouse": "Psmd10", "ortholog_c_elegans": "F40G9.17", "ortholog_xenopus": "psmd10", "ortholog_zebrafish": "psmd10", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.4585, "sd_percent_ciliated": 8.0126, "z_score": -0.309, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.872, "sd_percent_ciliated": 0.872, "z_score": 0.872, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5881, "sd_percent_ciliated": -5.5881, "z_score": -5.5881, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PSMD5", "ensembl_id": "ENSG00000095261", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 26S subunit, non-ATPase 5 [Source:HGNC Symbol,Acc:HGNC:9563]", "omim_id": "604452", "functional_summary": "PSMD5 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD13", "PSMD14", "PSMD2", "PSMD3", "PSMD4", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSME1", "PSME2"], "pfam_ids": "PF10508", "domain_descriptions": ["26S proteasome non-ATPase regulatory subunit 5", "Armadillo-like helical", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000095261", "synonym": "KIAA0072, S5B", "ortholog_mouse": "Psmd5", "ortholog_c_elegans": "F35G12.12", "ortholog_zebrafish": "psmd5", "ortholog_drosophila": "CG12096", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.3295, "sd_percent_ciliated": 3.3277, "z_score": -0.0824 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.383, "sd_percent_ciliated": 0.383, "z_score": 0.383 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.7535, "sd_percent_ciliated": -5.7535, "z_score": -5.7535 } ] }, { "gene": "PSMD7", "ensembl_id": "ENSG00000103035", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome 26S subunit, non-ATPase 7 [Source:HGNC Symbol,Acc:HGNC:9565]", "omim_id": "157970", "functional_summary": "PSMD7 has localized in flagella.", "localization": "flagella, Cytosol, Nucleus", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": ["PSMC1", "PSMC2", "PSMC3", "PSMC4", "PSMC5", "PSMC6", "PSMD1", "PSMD10", "PSMD11", "PSMD12", "PSMD13", "PSMD14", "PSMD2", "PSMD3", "PSMD4", "PSMD5", "PSMD6", "PSMD7", "PSMD8", "PSMD9", "PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7", "PSME1", "PSME2"], "pfam_ids": ["PF13012", "PF01398"], "domain_descriptions": ["JAB1/MPN/MOV34 metalloenzyme domain", "EIF3F/CSN6-like", "C-terminal", "26S Proteasome non-ATPase regulatory subunit 7/8", "MPN domain"], "string_link": "https://string-db.org/network/9606/ENSG00000103035", "synonym": "MOV34, P40, RPN8, S12", "ortholog_mouse": "Psmd7", "ortholog_c_elegans": "rpn-8", "ortholog_xenopus": "psmd7", "ortholog_zebrafish": "psmd7", "ortholog_drosophila": "Rpn8", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.9814, "z_score": -1.3952, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 23.1897, "z_score": -1.7955, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 10.6114 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.09, "z_score": 2.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.09 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.4419, "z_score": -10.4419, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -10.4419 } ] }, { "gene": "PSME3", "ensembl_id": "ENSG00000131467", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "proteasome activator subunit 3 [Source:HGNC Symbol,Acc:HGNC:9570]", "omim_id": "605129", "functional_summary": "PSME3 localized at cilia", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PSME3", "PSMA1", "PSMA2", "PSMA3", "PSMA4", "PSMA5", "PSMA6", "PSMA7", "PSMB1", "PSMB2", "PSMB3", "PSMB4", "PSMB5", "PSMB6", "PSMB7"], "pfam_ids": ["PF02252", "PF02251"], "domain_descriptions": ["Proteasome activator PA28", "C-terminal domain", "Proteasome activator PA28", "Proteasome activator superfamily", "Proteasome activator PA28", "C-terminal domain superfamily", "Proteasome activator PA28", "N-terminal domain", "Proteasome activator PA28", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000131467", "synonym": "KI, PA28-GAMMA, PA28G, REG-GAMMA", "ortholog_mouse": "Psme3", "ortholog_c_elegans": "psme-3", "ortholog_xenopus": "psme3", "ortholog_zebrafish": "psme3", "ortholog_drosophila": "REG", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.7444, "z_score": -1.6334, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 13.5273, "z_score": -2.9662, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.5654 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.96, "z_score": 3.96, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.96 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7284, "z_score": -0.7284, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.7284 } ] }, { "gene": "PTAFR", "ensembl_id": "ENSG00000169403", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "platelet activating factor receptor [Source:HGNC Symbol,Acc:HGNC:9582]", "omim_id": "173393", "functional_summary": "PTAFR has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["JAK2", "PTAFR", "TYK2", "CNIH4"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Platelet-activating factor receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000169403", "ortholog_mouse": "Ptafr", "ortholog_xenopus": "ptafr", "ortholog_zebrafish": "ptafr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.0391, "sd_percent_ciliated": 6.4535, "z_score": 0.9729, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.19, "sd_percent_ciliated": 1.19, "z_score": 1.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1566, "sd_percent_ciliated": -4.1566, "z_score": -4.1566, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTCH1", "ensembl_id": "ENSG00000185920", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "patched 1 [Source:HGNC Symbol,Acc:HGNC:9585]", "omim_id": "601309", "functional_summary": "Also known as PTC1. Transcriptio l target of Hh sig ling that inhibites Smo by preventing its accumulation within cilia and activation. Shh binds and i ctivates Ptc1, allowing activation of Smo (17641202, 32435793).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Neurogenesis & migration, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "25173977, 11941477, 17001668 ,11941477, 17001668", "complex_components": ["CCNB1", "CDK1", "PTCH1", "CDON", "CUL2", "ELOB", "ELOC", "ZYG11B"], "pfam_ids": "PF12349", "domain_descriptions": ["Sterol-sensing domain", "Transmembrane receptor", "patched", "HMGCR/SNAP/NPC1-like", "sterol-sensing domain"], "string_link": "https://string-db.org/network/9606/ENSG00000185920", "synonym": "BCNS, NBCCS, PTCH, SLC65B1", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ptch1", "ortholog_c_elegans": "ptc-1, ptc-3", "ortholog_xenopus": "ptch1", "ortholog_zebrafish": "ptch1", "ortholog_drosophila": "ptc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 21.1, "sd_percent_ciliated": 21.1, "z_score": 21.1, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6834, "sd_percent_ciliated": -3.6834, "z_score": -3.6834, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTCH2", "ensembl_id": "ENSG00000117425", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "patched 2 [Source:HGNC Symbol,Acc:HGNC:9586]", "omim_id": "603673", "functional_summary": "Although HHIP1 functions semi-redundantly with PTCH1 to restrict HH sig ling in the developing nervous system, a role for PTCH2 remains unresolved. PTCH2 has a ciliary localization as a HH pathway antagonist (23900540).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "23900540, 9931336 ,9931336", "complex_components": {}, "pfam_ids": "PF12349", "domain_descriptions": ["Sterol-sensing domain", "Transmembrane receptor", "patched", "HMGCR/SNAP/NPC1-like", "sterol-sensing domain"], "string_link": "https://string-db.org/network/9606/ENSG00000117425", "synonym": "SLC65B2", "ciliopathy": "Medulloblastoma", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ptch2", "ortholog_c_elegans": "ptc-1, ptc-3", "ortholog_xenopus": "ptch2", "ortholog_zebrafish": "ptch2", "ortholog_drosophila": "ptc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.2606, "sd_percent_ciliated": 1.5616, "z_score": 1.242 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.42, "sd_percent_ciliated": 4.42, "z_score": 4.42 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.7941, "sd_percent_ciliated": -2.7941, "z_score": -2.7941 } ] }, { "gene": "PTCHD3", "ensembl_id": "ENSG00000276595", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "patched domain containing 3 (gene/pseudogene) [Source:HGNC Symbol,Acc:HGNC:24776]", "omim_id": "611791", "functional_summary": "DYF-4 is a regulator for DAF-6 which promotes the proper formation of the glial channel and indirectly affects neurite extension and ciliogenesis ( 34115759).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Neurogenesis & migration", "reference": "34115759 ,19339602", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276595", "synonym": "FLJ44037, PTR, SLC65C3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ptchd3", "ortholog_c_elegans": "daf-6, ptr-1, ptr-10, ptr-11, ptr-12, ptr-13, ptr-14, ptr-15, ptr-16, ptr-17, ptr-18, ptr-19, ptr-2, ptr-20, ptr-21, ptr-22, ptr-23, ptr-3, ptr-4, ptr-5, ptr-6, ptr-8, ptr-9", "ortholog_xenopus": "ptchd3", "ortholog_zebrafish": "ptchd3a, ptchd3l", "ortholog_drosophila": "Ptr", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.9223, "sd_percent_ciliated": 8.2734, "z_score": -0.374, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.282, "sd_percent_ciliated": 0.282, "z_score": 0.282, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "PTEN", "ensembl_id": "ENSG00000284792", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "phosphatase and tensin homolog [Source:HGNC Symbol,Acc:HGNC:9588]", "omim_id": "601728", "functional_summary": "PTEN did not co-localize with BB markers, such as gamma-tubulin or RFP-tagged Centrin, but rather was observed adjacent to BBs, as well as in a spotted pattern in the ciliary axoneme itself , suggesting direct functio l involvement of PTEN in the regulation of ciliogenesis (26399523).", "localization": "cilia, Autophagosomes, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.6399523E7", "complex_components": ["EGFR", "NHERF1", "PTEN", "PPM1A", "SMAD2", "SMAD3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000284792", "synonym": "BZS, MHAM, MMAC1, PTEN1, TEP1", "ortholog_mouse": "Pten, Tep1", "ortholog_c_elegans": "daf-18", "ortholog_xenopus": "pten, tep1", "ortholog_zebrafish": "ptena, ptenb, tep1", "ortholog_drosophila": "Pten", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.5728, "sd_percent_ciliated": 1.7564, "z_score": -0.5375 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 36, "sd_percent_ciliated": 36, "z_score": 36 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.9797, "sd_percent_ciliated": -3.9797, "z_score": -3.9797 } ] }, { "gene": "PTGER2", "ensembl_id": "ENSG00000125384", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prostaglandin E receptor 2 [Source:HGNC Symbol,Acc:HGNC:9594]", "omim_id": "176804", "functional_summary": "Mutations in the PTGER2 gene cause Autosomal Dominant Polycystic Kidney Disease (PMID: 34886911).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4886911E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000125384", "synonym": "EP2", "ortholog_mouse": "Ptger2", "ortholog_xenopus": "ptger2", "ortholog_zebrafish": "ptger2a, ptger2b", "ortholog_drosophila": "CG7497", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.121, "sd_percent_ciliated": 6.2571, "z_score": -0.9557, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0756, "sd_percent_ciliated": 0.0756, "z_score": 0.0756, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0586, "sd_percent_ciliated": -3.0586, "z_score": -3.0586, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTGER4", "ensembl_id": "ENSG00000171522", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prostaglandin E receptor 4 [Source:HGNC Symbol,Acc:HGNC:9596]", "omim_id": "601586", "functional_summary": "Also known as EP4. Activates cAMP-mediated sig ling cascade. Together with COX- 2, is required for cilia formation and elongation. Increases the intracellular cAMP and activates protein ki se A (PKA) sig ling (25173977). We observed that depletion of ABCC4 or EP4 in hRPE1 cells caused a reduction of ciliaformation and elongation when compared with use of the control siRNA (Fig. 7a, b, c). Bothcilia length and percentages of ciliated cells were significantly reduced in ABCC4 or EP4 depleted cells (Fig. 7g. h). Addition of exogenous PGE2 increased both cilia length and percentages of ciliated cells in control cells but not in EP4-depleted cells (Fig. 7a, d; g, h), indicating that EP4 acts downstream of PGE2 signaling during ciliogenesis.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "25173977, 24434137, 27895123", "complex_components": ["FEM1A", "NFKB1", "PTGER4"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Prostaglandin DP receptor", "Prostanoid EP4 receptor", "Prostanoid receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000171522", "synonym": "EP4", "ortholog_mouse": "Ptger4", "ortholog_xenopus": "ptger4", "ortholog_zebrafish": "ptger4a, ptger4b, ptger4c", "ortholog_drosophila": "CG7497", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2373, "z_score": 0.5465, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 54.2931, "z_score": 1.9729, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.3468 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.98, "z_score": 3.98, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.98 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.7107, "z_score": -5.7107, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.7107 } ] }, { "gene": "PTGS1", "ensembl_id": "ENSG00000095303", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "prostaglandin-endoperoxide synthase 1 [Source:HGNC Symbol,Acc:HGNC:9604]", "omim_id": "176805", "functional_summary": "ptgs1 overexpression rescues ciliogenesis and re l multiciliated cells in ppargc1a-deficient embryos ( 33176142).", "localization": "Ciliary associated gene, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "33176142 ,33176142", "complex_components": "PTGS1", "pfam_ids": ["PF03098", "PF00008"], "domain_descriptions": ["Haem peroxidase superfamily", "Haem peroxidase", "animal-type", "Haem peroxidase domain superfamily", "animal type", "Oxylipin biosynthesis and metabolism", "EGF-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000095303", "synonym": "COX1, PGHS-1, PTGHS", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ptgs1", "ortholog_xenopus": "ptgs1", "ortholog_zebrafish": "ptgs1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.2931, "sd_percent_ciliated": 5.6513, "z_score": -0.4502 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.129, "sd_percent_ciliated": 0.129, "z_score": 0.129 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.5248, "sd_percent_ciliated": -9.5248, "z_score": -9.5248 } ] }, { "gene": "PTH", "ensembl_id": "ENSG00000152266", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "parathyroid hormone [Source:HGNC Symbol,Acc:HGNC:9606]", "omim_id": "168450", "functional_summary": "PTH could regulate SW1353 cells primary cilia assembly ( 25365173).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue", "reference": "2.5365173E7", "complex_components": ["LRP6", "PTH", "PTH1R", "PTH2R", "GNAS", "Gnb1", "GNG2"], "pfam_ids": "PF01279", "domain_descriptions": ["Parathyroid hormone/parathyroid hormone-related protein", "Parathyroid hormone"], "string_link": "https://string-db.org/network/9606/ENSG00000152266", "synonym": "PTH1", "ortholog_mouse": "Pth", "ortholog_xenopus": "LOC116408818", "ortholog_zebrafish": "pth1a, pth1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.5901, "sd_percent_ciliated": 1.6473, "z_score": -0.8989, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.54, "sd_percent_ciliated": 1.54, "z_score": 1.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2665, "sd_percent_ciliated": -1.2665, "z_score": -1.2665, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTH1R", "ensembl_id": "ENSG00000160801", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "parathyroid hormone 1 receptor [Source:HGNC Symbol,Acc:HGNC:9608]", "omim_id": "168468", "functional_summary": "PTH1R activation induces prosurvival actions via primary cilia- and Gli-1-dependent mechanism and modulates osteogenic responses via a primary cilia-dependent and Gli-1-independent pathway in osteocytes and osteoblasts(32039485).", "localization": "cilia, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue", "reference": "3.2039485E7", "complex_components": ["GNB1", "GNG2", "PTH1R", "ARRB2", "NHERF1", "LRP6", "PTH", "RAMP2", "SCTR", "PLCB1", "PLCB3", "YWHAH", "PTHLH", "NHERF2", "Plcb1", "TGFBR2", "EZR", "GNAS", "Gnb1"], "pfam_ids": ["PF02793", "PF00002"], "domain_descriptions": ["GPCR", "family 2", "secretin-like", "GPCR", "family 2", "extracellular hormone receptor domain", "GPCR", "family 2", "parathyroid hormone receptor", "GPCR", "family 2-like", "7TM", "GPCR", "family 2", "secretin-like", "conserved site", "GPCR family 2", "extracellular hormone receptor domain superfamily", "G-protein coupled receptor 2"], "string_link": "https://string-db.org/network/9606/ENSG00000160801", "synonym": "PTHR, PTHR1", "ortholog_mouse": "Pth1r", "ortholog_c_elegans": "pdfr-1", "ortholog_xenopus": "pth1r", "ortholog_zebrafish": "pth1r", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0676, "sd_percent_ciliated": 0.0676, "z_score": 0.0676, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.1795, "sd_percent_ciliated": -9.1795, "z_score": -9.1795, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTHLH", "ensembl_id": "ENSG00000087494", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "parathyroid hormone like hormone [Source:HGNC Symbol,Acc:HGNC:9607]", "omim_id": "168470", "functional_summary": "Activation of PTH1R by PTHrP increased gene expression and the expression of the hedgehog transcription factor Gli-1 in osteocytes and osteoblasts(32039485).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "3.2039485E7", "complex_components": ["PTH1R", "PTHLH"], "pfam_ids": "PF01279", "domain_descriptions": ["Parathyroid hormone/parathyroid hormone-related protein", "Parathyroid hormone-related protein"], "string_link": "https://string-db.org/network/9606/ENSG00000087494", "synonym": "HHM, PLP, PTHR, PTHRP", "ortholog_mouse": "Pthlh", "ortholog_xenopus": "pthlh", "ortholog_zebrafish": "pthlha, pthlhb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.5448, "sd_percent_ciliated": 1.5451, "z_score": -0.1774, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.64, "sd_percent_ciliated": 4.64, "z_score": 4.64, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3097, "sd_percent_ciliated": 0.3097, "z_score": 0.3097, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTK2", "ensembl_id": "ENSG00000169398", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein tyrosine kinase 2 [Source:HGNC Symbol,Acc:HGNC:9611]", "omim_id": "600758", "functional_summary": "Interacts with both basal bodies and actin, its downregulation leads to defects in ciliogenesis (24434137). It is a regulator of the actin cytoskeleton, cell adhesion, migration and plays a scaffolding role in multiciliated cells (27895123).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth", "reference": "19284988, 21289087", "complex_components": ["ITGB5", "PTK2", "PXN", "CD47", "ITGA2B", "ITGB3", "ACTN1", "BCAR1", "CDH1", "CTNNB1", "JUP", "PKD1", "SRC", "TLN1", "VCL", "CTTN", "FER", "MMP14", "MAPK1", "THSD1", "GRB7", "GJB2", "NANOG", "DIAPH1", "DVL2", "IQGAP1", "LGR4", "MAP2K1", "MAP2K2", "RSPO3", "WASL", "PIK3R1", "RARA", "ITGAV", "TEK"], "pfam_ids": ["PF07714", "PF03623", "PF18038", "PF00373", "PF21477"], "domain_descriptions": ["FERM domain", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Focal adhesion kinase", "targeting (FAT) domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "PH-like domain superfamily", "FERM/acyl-CoA-binding protein superfamily", "Protein kinase", "ATP binding site", "FERM central domain", "Band 4.1 domain", "Tyrosine-protein kinase", "catalytic domain", "Ubiquitin-like domain superfamily", "FERM superfamily", "second domain", "Focal adhesion kinase", "targeting (FAT) domain superfamily", "Focal adhesion kinase", "N-terminal", "FAK1/PYK2", "FERM domain C-lobe", "FAK1-like", "FERM domain C-lobe", "Non-receptor tyrosine kinases involved in cell signaling"], "string_link": "https://string-db.org/network/9606/ENSG00000169398", "synonym": "FADK, FAK, FAK1, PPP1R71", "ortholog_mouse": "Ptk2", "ortholog_c_elegans": "kin-32", "ortholog_xenopus": "ptk2", "ortholog_zebrafish": "ptk2aa, ptk2ab", "ortholog_drosophila": "Fak", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.1479, "sd_percent_ciliated": 2.4143, "z_score": 0.0168 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.66, "sd_percent_ciliated": 9.66, "z_score": 9.66 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.9115, "sd_percent_ciliated": -4.9115, "z_score": -4.9115 } ] }, { "gene": "PTPDC1", "ensembl_id": "ENSG00000158079", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "protein tyrosine phosphatase domain containing 1 [Source:HGNC Symbol,Acc:HGNC:30184]", "functional_summary": "Involved in centrosomal duplication, cytokinesis, and plays a role in ciliary length determi tion (19284988, 21289087). Depletion may lengthen cilia and accumulate higher levels of Gli3 via increased anterograde transport (21289087).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "25919282 ,21289087", "complex_components": {}, "pfam_ids": "PF00782", "domain_descriptions": ["Dual specificity phosphatase", "catalytic domain", "Tyrosine-specific protein phosphatases domain", "Protein-tyrosine phosphatase", "catalytic", "Protein-tyrosine phosphatase", "active site", "Dual specificity protein phosphatase domain", "Protein-tyrosine phosphatase-like", "Protein tyrosine phosphatase domain-containing protein 1", "PTP domain", "Protein Tyrosine Phosphatase"], "string_link": "https://string-db.org/network/9606/ENSG00000158079", "synonym": "FLJ37312, PTP9Q22", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ptpdc1", "ortholog_c_elegans": "ptp-8", "ortholog_xenopus": "ptpdc1", "ortholog_zebrafish": "ptpdc1a, ptpdc1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.7354, "sd_percent_ciliated": 3.3298, "z_score": 0.8149 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9181, "sd_percent_ciliated": -0.9181, "z_score": -0.9181 } ] }, { "gene": "PTPN11", "ensembl_id": "ENSG00000179295", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "protein tyrosine phosphatase non-receptor type 11 [Source:HGNC Symbol,Acc:HGNC:9644]", "omim_id": "176876", "functional_summary": "Also called SHP2. Responsible for craniofacial skeletal formation by regulation of primary cilia formation in chondrocytes, especially in the craniofacial region. Positively regulates ciliogenesis through IFT regulation in condyle cartilage. Deficiency shortens length and reduces number of primary cilia (25919282).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "2.4316073E7", "complex_components": ["PDGFRA", "PIK3R1", "PLCG1", "PTPN11", "GRB2", "IL6ST", "JAK1", "LMO4", "SOCS3", "HOOK1", "PTK2B"], "pfam_ids": ["PF00017", "PF00102"], "domain_descriptions": ["Tyrosine-specific protein phosphatase", "PTPase domain", "Tyrosine-specific protein phosphatases domain", "SH2 domain", "Protein-tyrosine phosphatase", "catalytic", "Protein-tyrosine phosphatase", "non-receptor type-6", "-11", "Protein-tyrosine phosphatase", "active site", "Protein-tyrosine phosphatase-like", "SH2 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000179295", "synonym": "BPTP3, NS1, PTP2C, SH-PTP2, SHP-2, SHP2", "ortholog_mouse": "Ptpn11", "ortholog_c_elegans": "ptp-2", "ortholog_xenopus": "ptpn11", "ortholog_zebrafish": "ptpn11a, ptpn11b", "ortholog_drosophila": "csw", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.5879, "sd_percent_ciliated": 1.8532, "z_score": 0.1913 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 14.2, "sd_percent_ciliated": 14.2, "z_score": 14.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.0865, "sd_percent_ciliated": -2.0865, "z_score": -2.0865 } ] }, { "gene": "PTPN13", "ensembl_id": "ENSG00000163629", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein tyrosine phosphatase non-receptor type 13 [Source:HGNC Symbol,Acc:HGNC:9646]", "omim_id": "600267", "functional_summary": "PTPN13 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PDLIM4", "PTPN13", "TRIP6", "ENTR1", "GIT1"], "pfam_ids": ["PF00102", "PF16599", "PF00595", "PF09379", "PF09380", "PF00373", "PF16474"], "domain_descriptions": ["Tyrosine-specific protein phosphatase", "PTPase domain", "FERM domain", "Tyrosine-specific protein phosphatases domain", "PDZ domain", "Protein-tyrosine phosphatase", "catalytic", "KIND domain", "PH-like domain superfamily", "Tyrosine-protein phosphatase non-receptor type 13", "FERM/acyl-CoA-binding protein superfamily", "FERM", "N-terminal", "FERM", "C-terminal PH-like domain", "FERM central domain", "Band 4.1 domain", "Protein-tyrosine phosphatase-like", "Ubiquitin-like domain superfamily", "FERM superfamily", "second domain", "PDZ superfamily", "Non-receptor Tyrosine-protein Phosphatases"], "string_link": "https://string-db.org/network/9606/ENSG00000163629", "synonym": "PTP-BAS, PTP-BL, PTP1E, PTPL1", "ortholog_mouse": "Ptpn13", "ortholog_c_elegans": "F38H4.4, F55F8.7", "ortholog_xenopus": "ptpn13", "ortholog_zebrafish": "ptpn13", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.5785, "sd_percent_ciliated": 3.9561, "z_score": 1.1594 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.87, "sd_percent_ciliated": 1.87, "z_score": 1.87 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3817, "sd_percent_ciliated": -2.3817, "z_score": -2.3817 } ] }, { "gene": "PTPN23", "ensembl_id": "ENSG00000076201", "overexpression_effects": "Unkown", "lof_effects": "Unkown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "protein tyrosine phosphatase non-receptor type 23 [Source:HGNC Symbol,Acc:HGNC:14406]", "omim_id": "606584", "functional_summary": "PTPN23 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273, 20393563 ,20393563", "complex_components": {}, "pfam_ids": ["PF03097", "PF13949", "PF00102"], "domain_descriptions": ["BRO1 domain", "BRO1 domain superfamily", "Tyrosine-specific protein phosphatase", "PTPase domain", "Tyrosine-specific protein phosphatases domain", "Protein-tyrosine phosphatase", "catalytic", "Protein-tyrosine phosphatase", "active site", "ALIX V-shaped domain", "Protein-tyrosine phosphatase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000076201", "synonym": "DKFZP564F0923, HD-PTP, KIAA1471", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ptpn23", "ortholog_c_elegans": "ego-2", "ortholog_xenopus": "ptpn23", "ortholog_zebrafish": "ptpn23a, ptpn23b", "ortholog_drosophila": "mop", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.3297, "sd_percent_ciliated": 7.437, "z_score": 0.5234 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 31.4, "sd_percent_ciliated": 31.4, "z_score": 31.4 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.6383, "sd_percent_ciliated": -2.6383, "z_score": -2.6383 } ] }, { "gene": "PTPRK", "ensembl_id": "ENSG00000152894", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein tyrosine phosphatase receptor type K [Source:HGNC Symbol,Acc:HGNC:9674]", "omim_id": "602545", "functional_summary": "PTPRK has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000152894", "synonym": "R-PTP-KAPPA", "ortholog_mouse": "Ptprk", "ortholog_c_elegans": "spe-54", "ortholog_xenopus": "ptprk", "ortholog_zebrafish": "ptprk", "screens": {} }, { "gene": "PTPRM", "ensembl_id": "ENSG00000173482", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "protein tyrosine phosphatase receptor type M [Source:HGNC Symbol,Acc:HGNC:9675]", "omim_id": "176888", "functional_summary": "PTPRM co localized with arl13b in cilia", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF23144", "PF00047", "PF00102", "PF00629", "PF00041"], "domain_descriptions": ["Tyrosine-specific protein phosphatase", "PTPase domain", "Tyrosine-specific protein phosphatases domain", "MAM domain", "Protein-tyrosine phosphatase", "catalytic", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin-like beta-sandwich domain", "Concanavalin A-like lectin/glucanase domain superfamily", "Immunoglobulin-like fold", "Protein-tyrosine phosphatase", "active site", "Protein-tyrosine phosphatase-like", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Receptor-type tyrosine-protein phosphatase mu", "PTPase domain", "repeat 1", "Receptor-type Tyrosine-protein Phosphatases", "Epidermal growth factor receptor", "juxtamembrane domain", "Protein-Tyrosine Phosphatase"], "string_link": "https://string-db.org/network/9606/ENSG00000173482", "synonym": "HR-PTPU, PTPRL1, RPTPU", "ortholog_mouse": "Ptprm", "ortholog_c_elegans": "spe-54", "ortholog_xenopus": "ptprm", "ortholog_zebrafish": "ptprma, ptprmb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.5624, "sd_percent_ciliated": 2.2022, "z_score": 0.3093, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.8, "sd_percent_ciliated": 4.8, "z_score": 4.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8201, "sd_percent_ciliated": -1.8201, "z_score": -1.8201, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PTTG1", "ensembl_id": "ENSG00000164611", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "PTTG1 regulator of sister chromatid separation, securin [Source:HGNC Symbol,Acc:HGNC:9690]", "omim_id": "604147", "functional_summary": "PTTG1 is a microtubule-associated protein that is a positive regulator of SHH sig ling, rendering the pathway more resilient to disturbances, and PTTG1 is a component of primary cilia in the neuroepithelium(34463328).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.4463328E7", "complex_components": ["ESPL1", "PTTG1"], "pfam_ids": "PF04856", "domain_descriptions": "Securin sister-chromatid separation inhibitor", "string_link": "https://string-db.org/network/9606/ENSG00000164611", "synonym": "EAP1, ECRAR, HPTTG, PTTG, SECURIN, TUTR1", "ortholog_mouse": "Pttg1", "ortholog_xenopus": "pttg1", "ortholog_zebrafish": "pttg1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.4197, "sd_percent_ciliated": 1.9622, "z_score": -0.9195, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.44, "sd_percent_ciliated": 2.44, "z_score": 2.44, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4348, "sd_percent_ciliated": -1.4348, "z_score": -1.4348, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "PUM1", "ensembl_id": "ENSG00000134644", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pumilio RNA binding family member 1 [Source:HGNC Symbol,Acc:HGNC:14957]", "omim_id": "607204", "functional_summary": "Mutations in the PUM1 gene cause Spinocerebellar Ataxia (PMID: 29474920).", "localization": "Ciliary associated gene, Cytosol, P-body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.947492E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000134644", "synonym": "KIAA0099, PUMH1", "ortholog_mouse": "Pum1", "ortholog_c_elegans": "puf-9", "ortholog_xenopus": "pum1", "ortholog_zebrafish": "pum1", "ortholog_drosophila": "pum", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.3453, "sd_percent_ciliated": 6.4594, "z_score": -0.6862, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 17, "sd_percent_ciliated": 17, "z_score": 17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3946, "sd_percent_ciliated": 0.3946, "z_score": 0.3946, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "QRFPR", "ensembl_id": "ENSG00000186867", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "pyroglutamylated RFamide peptide receptor [Source:HGNC Symbol,Acc:HGNC:15565]", "omim_id": "606925", "functional_summary": "Ciliary GPCR", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30398148, 21856246, 20576682", "complex_components": ["HCRTR1", "QRFPR", "HCRTR2"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Neuropeptide Y receptor family", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000186867", "synonym": "GPR103", "ortholog_mouse": "Qrfpr, Qrfprl", "ortholog_xenopus": "qrfpr", "ortholog_zebrafish": "qrfpra, qrfprb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.124, "sd_percent_ciliated": -5.124, "z_score": -5.124, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB10", "ensembl_id": "ENSG00000084733", "overexpression_effects": "No effect", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB10, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9759]", "omim_id": "612672", "functional_summary": "Negative regulator of ciliogenesis. Rab10 phosphorylation enhances binding to RILPL1, which in turn strengthens its ability to block ciliogenesis (30398148). Mediates membrane protein trafficking (21856246). Interacts in a protein complex with Sec8 at the basal body (20576682).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "20308558, 31204173, 22718902", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Small GTPase superfamily", "Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000084733", "ortholog_mouse": "Rab10", "ortholog_c_elegans": "rab-10", "ortholog_xenopus": "rab10", "ortholog_zebrafish": "rab10", "ortholog_drosophila": "Rab10", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.6191, "sd_percent_ciliated": 0.6323, "z_score": 0.195, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.29, "sd_percent_ciliated": 2.29, "z_score": 2.29, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4808, "sd_percent_ciliated": -3.4808, "z_score": -3.4808, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB11A", "ensembl_id": "ENSG00000103769", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB11A, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9760]", "omim_id": "605570", "functional_summary": "Regulator of the endocytic recycling compartment (ERC), binds to Rabin8 and transport it to the centrosome where it activates Rab8 to assemble the ciliary membrane from the ciliary vesicle (20308558, 31204173, 22718902). Rabin8- Rab11a interaction and preciliary trafficking are promoted by PI3K and Akt inhibitors (31204173).", "localization": "cilia, basal body, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "31204173, 19153612, 25673879", "complex_components": ["RAB11A", "RAB11FIP1", "DYNC1LI1", "IKBKG", "MYO5B", "RAB11FIP2", "ZFYVE27", "ANP32A", "ANP32B", "PTMA", "OSBP", "RELCH", "ASAP1", "RAB11FIP3", "CD274", "TRAPPC4", "TICAM1", "TICAM2", "SLAMF1", "RAB11FIP5", "ADRA1B", "PTGIR", "TBXA2R", "ADRB2"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Rab GTPases family involved in membrane trafficking"], "string_link": "https://string-db.org/network/9606/ENSG00000103769", "synonym": "YL8", "ortholog_mouse": "Rab11a", "ortholog_c_elegans": "rab-11.1, rab-11.2", "ortholog_xenopus": "rab11a", "ortholog_zebrafish": "rab11a, rab11al", "ortholog_drosophila": "Rab11", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.7936, "sd_percent_ciliated": 6.1396, "z_score": 0.822 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.122, "sd_percent_ciliated": 0.122, "z_score": 0.122 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5395, "sd_percent_ciliated": -1.5395, "z_score": -1.5395 } ] }, { "gene": "RAB11B", "ensembl_id": "ENSG00000185236", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB11B, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9761]", "omim_id": "604198", "functional_summary": "Localization of Rab11 at the base of the primary cilia(20308558).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "2.0308558E7", "complex_components": ["KIF5A", "RAB11B", "ZFYVE27"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "P-loop containing nucleoside triphosphate hydrolase", "Rab GTPases family involved in membrane trafficking", "Small GTP-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000185236", "synonym": "H-YPT3", "ortholog_mouse": "Rab11b", "ortholog_c_elegans": "rab-11.1", "ortholog_xenopus": "rab11b, rab11b.2", "ortholog_zebrafish": "rab11ba, rab11bb", "ortholog_drosophila": "Rab11", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.1651, "z_score": 0.524, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.1472, "z_score": 2.1975, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.8945 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.499, "z_score": 0.499, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.499 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.1614, "z_score": -7.1614, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -7.1614 } ] }, { "gene": "RAB11FIP3", "ensembl_id": "ENSG00000275338", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB11 family interacting protein 3 [Source:HGNC Symbol,Acc:HGNC:17224]", "omim_id": "608738", "functional_summary": "Also known as FIP3. Rab11 effector, required for regulation of preciliary trafficking and ciliogenesis. FIP3 increases Rabin8 affinity for Rab11 and forms a complex with them (31204173). Interact with Arf4, ASAP1 and Rab11 to form a complex that regulates budding of post-Trans-Golgi Network carriers targeted to the primary cilia (19153612), which meand that FIP3 is an essential regulator of ciliary membrane targeting, expansion and compartmentalisation of sig ling receptors (25673879)", "localization": "cilia, Centrosome, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "17646400, 9490718 ,25673879", "complex_components": ["ASAP1", "RAB11A", "RAB11FIP3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000275338", "synonym": "EFERIN, KIAA0665, RAB11-FIP3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab11fip3", "ortholog_c_elegans": "rfip-1", "ortholog_xenopus": "rab11fip3", "ortholog_zebrafish": "rab11fip3", "ortholog_drosophila": "nuf", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.01, "sd_percent_ciliated": 1.01, "z_score": 1.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RAB11FIP4", "ensembl_id": "ENSG00000131242", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB11 family interacting protein 4 [Source:HGNC Symbol,Acc:HGNC:30267]", "omim_id": "611999", "functional_summary": "RAB11FIP4 has localized in flagella.", "localization": "flagella, Endosome", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF09457", "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "Rab-binding domain FIP-RBD", "FIP-RBD", "C-terminal domain superfamily", "Rab11-interacting regulator of endocytosis and ciliogenesis"], "string_link": "https://string-db.org/network/9606/ENSG00000131242", "synonym": "FLJ00131, KIAA1821, MGC11316, RAB11-FIP4", "ortholog_mouse": "Rab11fip4", "ortholog_c_elegans": "rfip-1", "ortholog_xenopus": "rab11fip4", "ortholog_zebrafish": "rab11fip4a, rab11fip4b", "ortholog_drosophila": "nuf", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9646, "sd_percent_ciliated": 0.9646, "z_score": 0.9646, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB11FIP5", "ensembl_id": "ENSG00000135631", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB11 family interacting protein 5 [Source:HGNC Symbol,Acc:HGNC:24845]", "omim_id": "605536", "functional_summary": "ARL13B- RAB11FIP5 interacted in the early stage of ciliogenesis(30120249).", "localization": "basal body, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "3.0120249E7", "complex_components": ["RAB11A", "RAB11FIP5", "SLAMF1"], "pfam_ids": ["PF00168", "PF09457"], "domain_descriptions": ["C2 domain", "Rab-binding domain FIP-RBD", "C2 domain superfamily", "FIP-RBD", "C-terminal domain superfamily", "Rab11-family interacting protein class I"], "string_link": "https://string-db.org/network/9606/ENSG00000135631", "synonym": "GAF1, KIAA0857, PP75, RIP11", "ortholog_mouse": "Rab11fip5", "ortholog_c_elegans": "rfip-2", "ortholog_xenopus": "rab11fip5", "ortholog_zebrafish": "rab11fip5a, rab11fip5b", "ortholog_drosophila": "Rip11", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.79, "sd_percent_ciliated": 1.79, "z_score": 1.79, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9386, "sd_percent_ciliated": -2.9386, "z_score": -2.9386, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB12", "ensembl_id": "ENSG00000206418", "overexpression_effects": "Shorter cilia", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "RAB12, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:31332]", "omim_id": "616448", "functional_summary": "RAB12 negatively regulates primary ciliogenesis and centrosome organization. Overexpression of RAB12 (especially active Q100L) decreases the percentage of ciliated cells, shortens or truncates cilia, and causes centrosome enlargement and splitting. Loss of RAB12 (KO or mutant rescue) increases ciliation, restores normal cilia length, and rescues centrosome abnormalities, particularly in cells with pathogenic LRRK2 mutations. RAB12 overactivity suppresses cilia formation and alters centrosome homeostasis, while its loss promotes ciliogenesis and normal centrosomal structure(PMID: 39343966).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cilia length regulation", "reference": "3.9343966E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000206418", "ortholog_mouse": "Rab12", "ortholog_xenopus": "rab12", "ortholog_zebrafish": "rab12", "screens": [] }, { "gene": "RAB13", "ensembl_id": "ENSG00000143545", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB13, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:9762]", "omim_id": "602672", "functional_summary": "Localizes to the trans-Golgi network (TGN) and recycling endosomes (RE) in polarized epithelial cells. Required for TGN identity and proper trafficking of proteins through the TGN → RE → plasma membrane pathway. Disruption of Rab13 (knockdown or mutants) impairs trafficking via this route, which is relevant for ciliary protein sorting, as many ciliary proteins pass through similar pathways(PMID: 18779367).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "18779367 , https://journals.lww.com/jasn/citation/2021/10001/rab_gtpase_regulation_in_ciliogenesis_and.1416.aspx", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000143545", "ortholog_mouse": "Rab13", "ortholog_c_elegans": "rab-8", "ortholog_xenopus": "rab13", "ortholog_zebrafish": "rab13", "screens": [] }, { "gene": "RAB14", "ensembl_id": "ENSG00000119396", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB14, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:16524]", "omim_id": "612673", "functional_summary": "GTPases: Rab14, Rab18, Rab23, and Arf4 that are involved in vesicle-mediated Gli protein ciliary trafficking(PMID: 38378792).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8378792E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000119396", "synonym": "FBP; RAB-14", "ortholog_mouse": "Rab14", "ortholog_c_elegans": "rab-14", "ortholog_xenopus": "rab14", "ortholog_zebrafish": "rab14, rab14l", "ortholog_drosophila": "Rab14", "screens": [] }, { "gene": "RAB17", "ensembl_id": "ENSG00000124839", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB17, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:16523]", "omim_id": "602206", "functional_summary": "Involved in membrane trafficking, necessary for ciliogenesis (17646400). Involved in the function of apical sorting endosomes in polarized epithelial cells (9490718)", "localization": "cilia, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "17646400, 20375059, 26136363 ,17646400", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Rab GTPases family involved in membrane trafficking"], "string_link": "https://string-db.org/network/9606/ENSG00000124839", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab17", "ortholog_drosophila": "Rab5", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.4178, "z_score": 0.6029, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 54.0129, "z_score": 1.9389, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 12.3786 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.21, "z_score": 1.21, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.21 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4259, "z_score": -2.4259, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.4259 } ] }, { "gene": "RAB18", "ensembl_id": "ENSG00000099246", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "RAB18, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:14244]", "omim_id": "602207", "functional_summary": "Chlamydomonas RAB18 is dispensable for ciliation and IFT. (A). RAB18miR cells assemble cilia with normal length. Representative differential interreference contrast images of CC-5325 and RAB18miR cells are shown. The number of cells with cilia out of fifty counted cells is listed for each strain. Scale bar: 10 µm. (B). RAB18miR cells had full-length cilia (11.49 ± 0.55 µm, n = 50) compared to CC-5325 cells (11.35 ± 0.94 µm, n = 50). Mean lengths are listed; error bar indicates S.D., and “n” indicates the number of cilia counted and listed in each bar. “n.s.” denotes non- significance. A two-tailed t-test is used for statistical analysis.Upon crossing the TZ and reaching the proximal ciliary region, RAB18-GTP undergoes rapid nucleotide exchange, converting to RAB18-GDP. This conversion causes RAB18-GDP to detach from the ciliary membrane and localize within the ciliary matrix.", "localization": "Ciliary membrane", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "https://doi.org/10.1101/2025.02.04.636545", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000099246", "ortholog_mouse": "Rab18", "ortholog_c_elegans": "rab-18", "ortholog_xenopus": "rab18", "ortholog_zebrafish": "rab18a, rab18b", "ortholog_drosophila": "Rab18", "screens": [] }, { "gene": "RAB19", "ensembl_id": "ENSG00000146955", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB19, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:19982]", "functional_summary": "RAB19 associates with the RAB-GAP TBC1D4 and the HOPS-tethering complex to coordi te cortical clearing and ciliary membrane growth, which is essential for ciliogenesis(33561422).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "3.3561422E7", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Rab GTPase 19/43", "Rab GTPases family involved in membrane trafficking"], "string_link": "https://string-db.org/network/9606/ENSG00000146955", "synonym": "RAB19B", "ortholog_mouse": "Rab19", "ortholog_c_elegans": "rab-19", "ortholog_xenopus": "rab19", "ortholog_zebrafish": "rab19", "ortholog_drosophila": "Rab19", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.49, "sd_percent_ciliated": 1.49, "z_score": 1.49, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5703, "sd_percent_ciliated": -0.5703, "z_score": -0.5703, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB1A", "ensembl_id": "ENSG00000138069", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB1A, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9758]", "omim_id": "179508", "functional_summary": "Polycystin-1 (PC1) colocalizes with Rab1a, and PC1 may transit through the Rab1a-positive intermediate compartment en route to the cilium(30125442).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions", "reference": "3.0125442E7", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab", "Small GTPase superfamily", "Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000138069", "synonym": "RAB1, YPT1", "ortholog_mouse": "Rab1a", "ortholog_c_elegans": "rab-1", "ortholog_xenopus": "rab1a", "ortholog_zebrafish": "rab1aa, rab1ab", "ortholog_drosophila": "Rab1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.4569, "sd_percent_ciliated": 4.583, "z_score": -1.0362, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.02, "sd_percent_ciliated": 1.02, "z_score": 1.02, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8913, "sd_percent_ciliated": -2.8913, "z_score": -2.8913, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB23", "ensembl_id": "ENSG00000112210", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB23, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:14263]", "omim_id": "606144", "functional_summary": "Negative regulator of the Hedgehog sig ling pathway, required for retrograde transport away from primary cilia (17646400). It mediates the ciliary recycle of Smo (20375059). Facilitates binding of cytiplasmatic Kif17 with ciliary import carrier importin 尾2, essential for its targeting to the primary cilium (26136363).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27930654, 32101165, 10.5336/medsci.2010-19822, 25168863 ,10.5336/medsci.2010-19822, 25168863; 17646400", "complex_components": ["KIF17", "RAB23", "TNPO1"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab-23", "Ras-related protein Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000112210", "ciliopathy": "Carpenter Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab23", "ortholog_xenopus": "rab23", "ortholog_zebrafish": "rab23", "ortholog_drosophila": "Rab23", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.9077, "sd_percent_ciliated": 9.0449, "z_score": -0.8604 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 48.6, "sd_percent_ciliated": 48.6, "z_score": 48.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.3446, "sd_percent_ciliated": -3.3446, "z_score": -3.3446 } ] }, { "gene": "RAB28", "ensembl_id": "ENSG00000157869", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB28, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9768]", "omim_id": "612994", "functional_summary": "Associated with autosomal recessive cone-rod dystrophy. IFT-associated cargo with BBSome-dependent cell autonomous and non- autonomous functions at the ciliary base, maintaining the structural and functio l integrity of cilia (27930654). Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding (32101165)", "localization": "flagella, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology", "reference": "26021297, 23746546 ,23746546", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "P-loop containing nucleoside triphosphate hydrolase", "Small GTP-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000157869", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab28", "ortholog_c_elegans": "rab-28", "ortholog_xenopus": "rab28", "ortholog_zebrafish": "rab28", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.0449, "sd_percent_ciliated": 1.9491, "z_score": 0.6101 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 16.2, "sd_percent_ciliated": 16.2, "z_score": 16.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.9548, "sd_percent_ciliated": -3.9548, "z_score": -3.9548 } ] }, { "gene": "RAB29", "ensembl_id": "ENSG00000117280", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB29, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9789]", "omim_id": "603949", "functional_summary": "Colocalizes and interacts with Rab8, Rab11 and IFT20. Participates in ciliogenesis by controlling cilium growth, by promoting the transport of endosome-associated ciliary cargo to the base of the cilium. Required for Smo trafficking to the ciliary membrane.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "17574030, 25673879, 25313408, 21273506", "complex_components": {}, "pfam_ids": ["PF00071", "PF08477"], "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab29/Rab38/Rab32"], "string_link": "https://string-db.org/network/9606/ENSG00000117280", "synonym": "RAB7L, RAB7L1", "ortholog_mouse": "Rab29", "ortholog_c_elegans": "glo-1", "ortholog_xenopus": "rab29", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.79, "sd_percent_ciliated": 4.79, "z_score": 4.79, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RAB34", "ensembl_id": "ENSG00000109113", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB34, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:16519]", "omim_id": "610917", "functional_summary": "Rab34 regulates the early steps in serum starvation- induced ciliogenesis in hTERT-RPE1 cells, through a unique N-termi l region, by regulating the ciliary vesicle fusion step and/or the subsequent expansion. Required for ciliogenesis in only certain cell types (32669361). Rab34 is required for the successive fusion of small preciliary vesicles in order to generate ciliary vesicles, it is also required for the migration of the mother centriole from perinuclear region to cell membrane. Required for an early step of ciliary vesicle formation and Hh sig ling in vivo. Mutation results in significant decrease of ciliogenesis in both cultured cells and mice (30301781). Potential transcriptio l target of Gli transcription factors (17442700).", "localization": "basal body , cilia, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transcription regulation", "reference": "17574030, 22433857, 24213529, 17646400, 20631154, 32669361 ,33989524", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000109113", "synonym": "NARR, RAB39, RAH", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab34", "ortholog_xenopus": "rab34", "ortholog_zebrafish": "rab34a, rab34b", "ortholog_drosophila": "RabX5", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.7668, "z_score": -1.3282, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.9604, "z_score": -2.1867, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.0674 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 237, "z_score": 237, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 237 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.8266, "z_score": -8.8266, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -8.8266 } ] }, { "gene": "RAB35", "ensembl_id": "ENSG00000111737", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "RAB35, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:9774]", "omim_id": "604199", "functional_summary": "Rab35 at the mammalian and zebrafish cilium regulates cilium length and left‐right asymmetry, and controls the ciliary levels of PI(4,5)P2 and regulators of the Sonic hedgehog pathway. Rab35 GTPase localizes to the ciliary membrane and pocket of mammalian cells and Kupffer's vesicles of zebrafish along with its GAP and GEF.Rab35 depletion leads to formation of shorter cilia in both systems and interferes with left‐ right symmetry formation of zebrafish.Rab35 depletion reduces the levels of Sonic hedgehog signaling components and PI(4,5)P2 in the ciliary membrane. Rab35 interacts with Arl13b and inhibits its ciliary accumulation(PMID: 31432619).", "localization": "Ciliary membrane", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "3.1432619E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000111737", "synonym": "H-RAY", "ortholog_mouse": "Rab35", "ortholog_c_elegans": "rab-35", "ortholog_xenopus": "rab35", "ortholog_zebrafish": "rab35a, rab35b", "ortholog_drosophila": "Rab35", "screens": [] }, { "gene": "RAB3IP", "ensembl_id": "ENSG00000127328", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB3A interacting protein [Source:HGNC Symbol,Acc:HGNC:16508]", "omim_id": "608686", "functional_summary": "Also known as Rabin8. GTP loading by Rabin8 promotes Rab8 association with post- Golgi vesicles and targets them to polarised areas of the plasma membrane. BBS1 subunit of the BBSome associates with the C terminus of Rabin8 at the basal body. Activates Rab8 by loading with GTP, which is necessary for Rab8 to enter the primary cilium, promoting ciliogenesis and apical membrane formation (17574030). Phosphorylation of Rabin8 might modulate its interactions with ASAP1 and Rab11a. It binds to the catalytically active ASAP1 in complex with Rab11a and FIP3 (25673879). Interacts with Chibby to promote recruitment of Rab8 and efficient assembly of ciliary vesicles. Interaction with Rab11 stimulates its GEF activity (25313408) and is required for Rabin8 preciliary membrane trafficking to the centrosome and for ciliogenesis (21273506).", "localization": "flagella, cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane", "reference": "32669361, 30301781, 17442700 ,17574030", "complex_components": ["RAB3IP", "TRAPPC1", "TRAPPC10", "TRAPPC14", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC9"], "pfam_ids": "PF06428", "domain_descriptions": ["GDP/GTP exchange factor Sec2", "N-terminal", "Guanine nucleotide exchange factor RAB3IL/RAB3IP/Sec2"], "string_link": "https://string-db.org/network/9606/ENSG00000127328", "synonym": "FLJ22548, RABIN3, RABIN8", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab3ip", "ortholog_c_elegans": "rabi-1", "ortholog_xenopus": "rab3ip", "ortholog_zebrafish": "rab3ip", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.9244, "sd_percent_ciliated": 1.8428, "z_score": -0.8584 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.1, "sd_percent_ciliated": 3.1, "z_score": 3.1 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8345, "sd_percent_ciliated": -0.8345, "z_score": -0.8345 } ] }, { "gene": "RAB5A", "ensembl_id": "ENSG00000144566", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "RAB5A, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:9783]", "omim_id": "179512", "functional_summary": "Localisation of the clathrin light chain, AP-2 clathrin adaptor, dynamin and RAB-5 endocytic proteins overlaps with a morphologically discrete periciliary membrane compartment associated with sensory cilia(PMID: 22342749). STAM-1 and RAB-5 collocate in the cell bodies and ciliary bases of polycystin-expressing neurons (Ppkd-2::STAM-1A:: GFP and Ppkd-2::mRFP::RAB-5, Figure 3, B–D). Combined, these data indicate that C. elegans STAM-1A colocalizes with HGRS-1 on the early endosome at the ciliary base, where they may participate in endocytic sorting of LOV-1 and PKD-2(17581863).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "17581863, 22342749", "complex_components": ["RAB5A", "RABEP1", "RABGEF1", "EEA1", "VPS11", "VPS16", "VPS18", "VPS39", "ADRA1B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000144566", "synonym": "RAB5", "ortholog_mouse": "Rab5a", "ortholog_c_elegans": "rab-5", "ortholog_xenopus": "rab5a", "ortholog_zebrafish": "rab5aa, rab5ab", "ortholog_drosophila": "Rab5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.1163, "sd_percent_ciliated": 2.422, "z_score": -0.2293 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.13, "sd_percent_ciliated": 2.13, "z_score": 2.13 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1226, "sd_percent_ciliated": -0.1226, "z_score": -0.1226 } ] }, { "gene": "RAB6A", "ensembl_id": "ENSG00000175582", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB6A, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9786]", "omim_id": "179513", "functional_summary": "RAB6A has localized in basal body.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00071", "PF08477", "PF00025"], "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab", "Small GTPase superfamily", "ARF/SAR type"], "string_link": "https://string-db.org/network/9606/ENSG00000175582", "synonym": "RAB6", "ortholog_mouse": "Rab6a", "ortholog_c_elegans": "rab-6.1, rab-6.2", "ortholog_xenopus": "rab6a", "ortholog_zebrafish": "rab6a", "ortholog_drosophila": "Rab6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.2827, "sd_percent_ciliated": 5.6263, "z_score": 0.8812, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.15, "sd_percent_ciliated": 0.15, "z_score": 0.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.271, "sd_percent_ciliated": -5.271, "z_score": -5.271, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB6B", "ensembl_id": "ENSG00000154917", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB6B, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:14902]", "omim_id": "615852", "functional_summary": "RAB6B has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000154917", "ortholog_mouse": "Rab6b", "ortholog_c_elegans": "rab-6.1, rab-6.2", "ortholog_xenopus": "rab6b", "ortholog_zebrafish": "rab6ba, rab6bb", "ortholog_drosophila": "Rab6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.1876, "sd_percent_ciliated": 5.954, "z_score": 0.5062, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.006, "sd_percent_ciliated": 0.006, "z_score": 0.006, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.8022, "sd_percent_ciliated": -4.8022, "z_score": -4.8022, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB6C", "ensembl_id": "ENSG00000292140", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB6C, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:16525]", "omim_id": "612909", "functional_summary": "RAB6C has localized in basal body, transition zone.", "localization": "basal body, transition zone, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292140", "synonym": "WTH3", "ortholog_mouse": "Rab6a", "ortholog_c_elegans": "rab-6.2", "ortholog_drosophila": "Rab6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.4663, "sd_percent_ciliated": 4.1449, "z_score": -0.7927 } ] }, { "gene": "RAB6D", "ensembl_id": "ENSG00000233087", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB6D, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:30272]", "functional_summary": "RAB6D has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Ras-related protein Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000233087", "synonym": "RAB6CL, WTH3DI", "ortholog_mouse": "Rab6a", "ortholog_c_elegans": "rab-6.2", "ortholog_drosophila": "Rab6", "screens": {} }, { "gene": "RAB7A", "ensembl_id": "ENSG00000075785", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "RAB7A, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9788]", "omim_id": "602298", "functional_summary": "The small GTPase RAB7A lozalized in the transition zone", "localization": "transition zone, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DCTN1", "OSBPL1A", "RAB7A", "RILP", "ADRA1B"], "pfam_ids": ["PF00071", "PF08477"], "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000075785", "synonym": "CMT2B, RAB7", "ortholog_mouse": "Rab7", "ortholog_c_elegans": "rab-7", "ortholog_xenopus": "rab7a", "ortholog_zebrafish": "rab7a", "ortholog_drosophila": "Rab7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 18.1, "sd_percent_ciliated": 18.1, "z_score": 18.1, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.423, "sd_percent_ciliated": -4.423, "z_score": -4.423, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAB8A", "ensembl_id": "ENSG00000167461", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB8A, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:7007]", "omim_id": "165040", "functional_summary": "Rab8 targets vesicles to the cilium and promotes ciliary membrane elongation. It is activated by Rabin8 (17574030, 22433857). I ctivating Rab8 (GDP- bound state) blocks ciliogenesis and induces BBS phenotypes in zebrafish (17574030). Rab8a, Rab8b and Rab10 work synergistically for ciliogenesis (24213529). Rab8a specifically interacts with cenexin/ODF2, a basal body and microtubule binding protein required for cilium biogenesis (17646400). Regulates the trafficking of rhodopsin in photoreceptors. Interacts with RPGR which regulates its activity and localisation. Involved in polarised trafficking of vesicles from the trans-Golgi network (20631154). Involved in serum-starvation-induced ciliogenesis (32669361)", "localization": "basal body, cilia,, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "27224062 ,17646400", "complex_components": ["HTT", "OPTN", "RAB8A", "BIN1", "EHBP1", "HOOK2", "PCM1", "SYTL4", "TNPO1", "ADRA2B", "ADRB2"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Small GTPase superfamily", "Rab"], "string_link": "https://string-db.org/network/9606/ENSG00000167461", "synonym": "MEL, RAB8", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rab8a", "ortholog_c_elegans": "rab-8", "ortholog_xenopus": "rab8a", "ortholog_zebrafish": "rab8a", "ortholog_drosophila": "Rab8", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.0948, "sd_percent_ciliated": 0.2603, "z_score": -0.9589, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.97, "sd_percent_ciliated": 1.97, "z_score": 1.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2412, "sd_percent_ciliated": -3.2412, "z_score": -3.2412, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RABEP1", "ensembl_id": "ENSG00000029725", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "rabaptin, RAB GTPase binding effector protein 1 [Source:HGNC Symbol,Acc:HGNC:17677]", "omim_id": "603616", "functional_summary": "Rabep1/GGA1/Arl3-dependent ciliary targeting mechanism, whereby Rabep1 couples the polycystin complex to a GGA1/Arl3-based ciliary trafficking module at the TGN ( 25405894).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "2.5405894E7", "complex_components": ["RAB5A", "RABEP1", "RABGEF1", "AP1G1"], "pfam_ids": ["PF03528", "PF09311"], "domain_descriptions": ["Rabaptin coiled-coil domain", "Rabaptin", "Rabaptin", "GTPase-Rab5 binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000029725", "synonym": "NEUROCRESCIN, RAB5EP, RABAPTIN-5, RABPT5", "ortholog_mouse": "Rabep1", "ortholog_c_elegans": "rabn-5", "ortholog_xenopus": "rabep1", "ortholog_zebrafish": "rabep1", "ortholog_drosophila": "Rbpn-5", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.3382, "sd_percent_ciliated": 9.4939, "z_score": -0.0813, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.106, "sd_percent_ciliated": 0.106, "z_score": 0.106, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.9798, "sd_percent_ciliated": -5.9798, "z_score": -5.9798, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RABEP2", "ensembl_id": "ENSG00000177548", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "rabaptin, RAB GTPase binding effector protein 2 [Source:HGNC Symbol,Acc:HGNC:24817]", "omim_id": "611869", "functional_summary": "RABEP2 localization at the centrosome is regulated by SDCCAG8. As a component of cilium, it may be a component of the intraciliary transport mechanism. siR mediated knockdown in hTERT-RPE1 cells abolished cilia formation, indicating a critical role in ciliogenesis (27224062).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "28625565, 30578315, 33075816", "complex_components": {}, "pfam_ids": ["PF03528", "PF09311"], "domain_descriptions": ["Rabaptin", "Rabaptin", "GTPase-Rab5 binding domain", "Rabaptin coiled-coil domain"], "string_link": "https://string-db.org/network/9606/ENSG00000177548", "synonym": "FLJ23282, FRA", "ortholog_mouse": "Rabep2", "ortholog_c_elegans": "rabn-5", "ortholog_xenopus": "rabep2", "ortholog_zebrafish": "rabep2", "ortholog_drosophila": "Rbpn-5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.3888, "sd_percent_ciliated": 5.3748, "z_score": -1.6502 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.236, "sd_percent_ciliated": 0.236, "z_score": 0.236 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.4474, "sd_percent_ciliated": -0.4474, "z_score": -0.4474 } ] }, { "gene": "RABL2A", "ensembl_id": "ENSG00000144134", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB, member of RAS oncogene family like 2A [Source:HGNC Symbol,Acc:HGNC:9799]", "omim_id": "605412", "functional_summary": "RABL2 paralog. Functio lly redundant with RABL2B as they can rescue ciliogenesis when both genes have been knocked out (28625565). Associates with ciliary GPCR in mammalian primary cilia and regulates theirs localisation (30578315). Two variants in RABL2A were identified as cause of male infertility and ciliopathy (33075816). RABL2 might play a role in trafficking of ciliary proteins as well as ciliogenesis. RABL2A/B knock out lead to decrease in number of primary cilia in RPE1 cells (30578315).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28625565, 30578315, 28138870 ,28428259; 30578315, 33075816; 30578315", "complex_components": {}, "pfam_ids": ["PF00071", "PF08477"], "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Rab-like protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000144134", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rabl2", "ortholog_xenopus": "rabl2b", "ortholog_zebrafish": "rabl2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.9309, "sd_percent_ciliated": 1.0558, "z_score": -1.0999 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 213, "sd_percent_ciliated": 213, "z_score": 213 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -14.3073, "sd_percent_ciliated": -14.3073, "z_score": -14.3073 } ] }, { "gene": "RABL2B", "ensembl_id": "ENSG00000079974", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RAB, member of RAS oncogene family like 2B [Source:HGNC Symbol,Acc:HGNC:9800]", "omim_id": "605413", "functional_summary": "RABL2 paralog. Functio lly redundant with RABL2A as they can rescue ciliogenesis when both genes have been knocked out (28625565). Associates with ciliary GPCR in mammalian primary cilia and regulates theirs localisation (30578315). It is recruited by CEP19 to the ciliary base where it mediates release of IFT-B from pre-docked complexes to initiate IFT ciliary entry, CEP19-RABL2B complex is then a critical regulator that initiates intraflagellar transport at the ciliary base (28625565). Variant in RABL2B gene could be a risk factor in Iranian infertile men with oligoasthenoteratozoospermia (28138870).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "21998203, 20526328, 21285245 ,28428259; 30578315, 33075816; 30578315", "complex_components": ["CEP19", "CEP350", "CEP43", "RABL2B"], "pfam_ids": ["PF00071", "PF08477"], "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase", "Rab-like protein 2"], "string_link": "https://string-db.org/network/9606/ENSG00000079974", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rabl2", "ortholog_xenopus": "rabl2b", "ortholog_zebrafish": "rabl2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.1936, "sd_percent_ciliated": 5.852, "z_score": -1.3104 } ] }, { "gene": "RABL3", "ensembl_id": "ENSG00000144840", "overexpression_effects": "Not Reported", "lof_effects": "Shorter/absent", "percent_ciliated_cells_effects": "Decreased", "description": "RAB, member of RAS oncogene family like 3 [Source:HGNC Symbol,Acc:HGNC:18072]", "omim_id": "618542", "functional_summary": "Atypical small GTPase RAB-like 3 (RABL3) plays an important role, in cooperation with RAB11, in CV formation during early ciliogenesis(36052645).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology", "reference": "3.6052645E7", "complex_components": {}, "pfam_ids": "PF08477", "domain_descriptions": "P-loop containing nucleoside triphosphate hydrolase", "string_link": "https://string-db.org/network/9606/ENSG00000144840", "synonym": "MGC23920", "ortholog_mouse": "Rabl3", "ortholog_c_elegans": "Y116A8C.10", "ortholog_xenopus": "rabl3", "ortholog_zebrafish": "rabl3", "ortholog_drosophila": "CG4789", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 22.7336, "sd_percent_ciliated": 4.8497, "z_score": -1.8507 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.05, "sd_percent_ciliated": 3.05, "z_score": 3.05 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.7064, "sd_percent_ciliated": -7.7064, "z_score": -7.7064 } ] }, { "gene": "RABL6", "ensembl_id": "ENSG00000196642", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAB, member RAS oncogene family like 6 [Source:HGNC Symbol,Acc:HGNC:24703]", "omim_id": "610615", "functional_summary": "RABL6 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF08477", "PF00071"], "domain_descriptions": ["P-loop containing nucleoside triphosphate hydrolase", "Rab-like protein 6", "Small GTPase"], "string_link": "https://string-db.org/network/9606/ENSG00000196642", "synonym": "BA216L13.9, C9ORF86, FLJ10101, FLJ13045, PARF, PP8875, RBEL1", "ortholog_mouse": "Rabl6", "ortholog_c_elegans": "F08G12.1", "ortholog_xenopus": "rabl6", "ortholog_zebrafish": "rabl6a, rabl6b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0287, "sd_percent_ciliated": 0.0287, "z_score": 0.0287, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RAC1", "ensembl_id": "ENSG00000136238", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "Rac family small GTPase 1 [Source:HGNC Symbol,Acc:HGNC:9801]", "omim_id": "602048", "functional_summary": "In both wild type and Arhgap35D34/D34 proximal tubules Rac1 and RhoA are enriched at the basal bodies to similar degrees. p190A plays a role at the docked basal body to downregulate active RhoA (and possibly Rac1) to allow the localized actin cytoskeleton rearrangement required for cilia elongation (26859289).", "localization": "basal body, Cytosol, Endosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "2.6859289E7", "complex_components": ["CDC42", "PARD3", "PARD6A", "PRKCI", "RAC1", "APC", "IQGAP1", "DOCK1", "ELMO1", "RHOA", "VANGL2", "NCKAP1", "WASF3", "NISCH", "PAK1", "NOX1", "NOXA1", "NOXO1", "CYBA", "CYBB", "NCF1", "NCF2", "NCF4", "MTNR1A"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTPase Rho", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000136238", "synonym": "P21-RAC1, RAC-1, TC-25", "ortholog_mouse": "Rac1", "ortholog_c_elegans": "rac-2", "ortholog_xenopus": "rac1", "ortholog_zebrafish": "rac1a, rac1b", "ortholog_drosophila": "Rac1, Rac2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.8444, "sd_percent_ciliated": 4.5133, "z_score": 0.9493 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.42, "sd_percent_ciliated": 5.42, "z_score": 5.42 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.5534, "sd_percent_ciliated": 0.5534, "z_score": 0.5534 } ] }, { "gene": "RACGAP1", "ensembl_id": "ENSG00000161800", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "Rac GTPase activating protein 1 [Source:HGNC Symbol,Acc:HGNC:9804]", "functional_summary": "Loss of RACGAP1, mother centrioles were specified correctly prior to ciliogenesis and the cilia appeared normal, Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure ( 37771269).Loss of RACGAP1 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "37771269, 37771269", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "ECT2"], "pfam_ids": ["PF00620", "PF00130"], "domain_descriptions": ["Rho GTPase-activating protein domain", "Protein kinase C-like", "phorbol ester/diacylglycerol-binding domain", "Rho GTPase activation protein", "C1-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000161800", "synonym": "CYK4, MGCRACGAP", "ortholog_mouse": "Racgap1", "ortholog_c_elegans": "cyk-4", "ortholog_xenopus": "racgap1", "ortholog_zebrafish": "racgap1", "ortholog_drosophila": "RacGAP84C, tum", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.1029, "sd_percent_ciliated": 9.1831, "z_score": -0.4733 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.03, "sd_percent_ciliated": 8.03, "z_score": 8.03 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.2782, "sd_percent_ciliated": -7.2782, "z_score": -7.2782 } ] }, { "gene": "RACK1", "ensembl_id": "ENSG00000204628", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "receptor for activated C kinase 1 [Source:HGNC Symbol,Acc:HGNC:4399]", "omim_id": "176981", "functional_summary": "RACK1 regulates centriole duplication by controlling the centrosomal localization of BRCA1 in mammary tissue-derived cells and that this is dependent on the BRCA1鈥揜ACK1 interaction(30617304).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.0617304E7", "complex_components": ["GNG2", "RACK1", "RAF1", "FERMT3", "ITGB1", "ITGB2", "ABCB1", "ANXA2", "SRC", "IFNAR1", "IFNAR2", "STAT1", "KCNA5", "KCNAB1", "PRKCB", "PRKCQ", "AR", "PDE4D", "FLT1", "CHRM2", "TBXA2R"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "Small ribosomal subunit protein RACK1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000204628", "synonym": "GNB2-RS1, GNB2L1, H12.3", "ortholog_mouse": "Rack1", "ortholog_c_elegans": "rack-1", "ortholog_xenopus": "rack1", "ortholog_zebrafish": "rack1", "ortholog_drosophila": "Rack1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 15.2, "sd_percent_ciliated": 15.2, "z_score": 15.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RAD21", "ensembl_id": "ENSG00000164754", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAD21 cohesin complex component [Source:HGNC Symbol,Acc:HGNC:9811]", "omim_id": "606462", "functional_summary": "Mutations in the RAD21 gene cause Cornelia de Lange Syndrome (PMID: 22633399).", "localization": "Ciliary associated gene, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "22633399 ,22633399", "complex_components": ["RAD21", "SMC1A", "SMC3", "STAG1", "STAG2", "BAZ1A", "CHD3", "HDAC1", "HDAC2", "MBD2", "MBD3", "MTA1", "MTA2", "RBBP4", "RBBP7", "SMARCA5", "CDCA5", "PDS5A", "PDS5B", "DDX11", "NIPBL"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000164754", "synonym": "HHR21, KIAA0078, SCC1", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rad21", "ortholog_c_elegans": "coh-1, scc-1", "ortholog_xenopus": "rad21", "ortholog_zebrafish": "rad21a, rad21b", "ortholog_drosophila": "vtd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.8216, "sd_percent_ciliated": 3.3217, "z_score": -0.2651 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 48.7, "sd_percent_ciliated": 48.7, "z_score": 48.7 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.6847, "sd_percent_ciliated": -6.6847, "z_score": -6.6847 } ] }, { "gene": "RAD51D", "ensembl_id": "ENSG00000185379", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAD51 paralog D [Source:HGNC Symbol;Acc:HGNC:9823]", "omim_id": "602954", "functional_summary": "The co-deletion of TP53 and RAD51D downregulated cilia assembly, development, and motility, but upregulated multiple HGSOC-associated pathways, including the IL-17 signaling pathway. IL-17A treatment significantly improved cell viability(PMID: 38255960).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism, Cell migration & adhesion", "reference": "3.825596E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000185379", "synonym": "HSTRAD; R51H3; RAD51L3; TRAD", "ortholog_mouse": "Rad51d", "ortholog_c_elegans": "rfs-1", "ortholog_xenopus": "rad51d", "ortholog_zebrafish": "rad51d", "ortholog_drosophila": "Rad51D", "screens": [] }, { "gene": "RALGAPA1", "ensembl_id": "ENSG00000174373", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Ral GTPase activating protein catalytic subunit alpha 1 [Source:HGNC Symbol,Acc:HGNC:17770]", "omim_id": "608884", "functional_summary": "RALGAPA1 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF02145", "PF20412"], "domain_descriptions": ["Rap/Ran-GAP domain", "Tuberin/Ral GTPase-activating protein subunit alpha", "Rap/Ran-GAP superfamily", "Armadillo-type fold", "Ral GTPase-activating protein subunit alpha/beta", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000174373", "synonym": "DKFZP667F074, GARNL1, GRIPE, KIAA0884, RALGAPALPHA1, TULIP1", "ortholog_mouse": "Ralgapa1", "ortholog_c_elegans": "hgap-1", "ortholog_xenopus": "ralgapa1", "ortholog_zebrafish": "ralgapa1", "ortholog_drosophila": "CG5521", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.112, "sd_percent_ciliated": 0.112, "z_score": 0.112, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.1742, "sd_percent_ciliated": 1.1742, "z_score": 1.1742, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAN", "ensembl_id": "ENSG00000132341", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "RAN, member RAS oncogene family [Source:HGNC Symbol,Acc:HGNC:9846]", "omim_id": "601179", "functional_summary": "Ran GTP regulates ciliary protein transport and ciliogenesis (21998203). RanGTP gradient regulates trafficking and entry of kinesin motor KIF17 into cilium. It has been proposed that Ran plays a role in regulating cellular compartmentalisation by controlling the shuttling of cytoplasmic proteins into ciliary compartments (20526328). Interacts with Importin 尾2, which interacts directly with cargoes, releasing them upon binding Ran GTP and regulating localisation of RP2 (21285245).", "localization": "cilia, basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Viral interactions, Transcription regulation", "reference": "21998203 ,20526328", "complex_components": ["RAN", "SNUPN", "XPO1", "NCBP1", "NCBP2", "PHAX", "CHD3", "CPSF2", "EFTUD2", "HDAC1", "HDAC2", "KDM1A", "KMT2A", "MBD3", "MTA2", "RBBP4", "RBBP5", "RBBP7", "SAP18", "SAP30", "SIN3A", "SMARCA2", "SMARCA5", "SMARCB1", "SMARCC1", "SMARCC2", "SYMPK", "TAF1", "TAF12", "TAF6", "TAF9", "TBP", "WDR5", "EIF1AX", "IPO13", "NXF1", "TNPO2", "KPNB1", "RANBP1", "CSE1L", "KPNA2", "NMD3", "RCC1", "RANBP3", "XPO4", "XPO5", "XPO6", "XPO7", "XPOT", "IPO4", "IPO5", "IPO7", "IPO11", "IPO9", "IPO8", "TNPO3", "TNPO1", "DLD", "NFE2L1", "ILF3", "ZNF346", "KPNA4", "KPNA3", "KPNA1", "KPNA6"], "pfam_ids": ["PF00071", "PF08477"], "domain_descriptions": ["Small GTPase", "Ran GTPase", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000132341", "synonym": "ARA24, GSP1, TC4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "1700009N14Rik, Ran, Rasl2-9", "ortholog_c_elegans": "ran-1", "ortholog_xenopus": "ran", "ortholog_zebrafish": "ran", "ortholog_drosophila": "Ran", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.3955, "sd_percent_ciliated": 4.3567, "z_score": 1.1372 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.38, "sd_percent_ciliated": 3.38, "z_score": 3.38 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.8482, "sd_percent_ciliated": -6.8482, "z_score": -6.8482 } ] }, { "gene": "RANBP1", "ensembl_id": "ENSG00000099901", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "RAN binding protein 1 [Source:HGNC Symbol,Acc:HGNC:9847]", "omim_id": "601180", "functional_summary": "Negative regulator of Ran GTP, as it stimulates Ran GTP to GDP conversion. RanBP1 Knockdown results in an increased concentration of Ran GTP at basal bodies, leading to ciliogenesis. Overexpression antagonizes primary cilia formation.", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions", "reference": "2.9643119E7", "complex_components": ["ENTPD1", "RANBP1", "KPNB1", "RAN", "RCC1"], "pfam_ids": "PF00638", "domain_descriptions": ["Ran binding domain", "PH-like domain superfamily", "Ran binding protein RanBP1-like", "Ran-specific GTPase-activating protein 1", "Ran-binding domain"], "string_link": "https://string-db.org/network/9606/ENSG00000099901", "synonym": "HTF9A", "ortholog_mouse": "Ranbp1", "ortholog_c_elegans": "npp-9", "ortholog_xenopus": "ranbp1", "ortholog_zebrafish": "ranbp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 25.3913, "sd_percent_ciliated": 8.9101, "z_score": -1.5288, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 23.5, "sd_percent_ciliated": 23.5, "z_score": 23.5, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8188, "sd_percent_ciliated": -2.8188, "z_score": -2.8188, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RANBP10", "ensembl_id": "ENSG00000141084", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAN binding protein 10 [Source:HGNC Symbol;Acc:HGNC:29285]", "omim_id": "614031", "functional_summary": "The GID/CTLH complex, including RANBP9 and RANBP10, has been identified as a component of the primary cilium. It is involved in ciliary signal transduction, particularly in pathways like Sonic Hedgehog (Shh) signaling. Disruption of this complex leads to ciliopathy-like phenotypes(PMID: 35543155).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5543155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141084", "synonym": "KIAA1464", "ortholog_mouse": "Ranbp10", "ortholog_c_elegans": "gid-1", "ortholog_zebrafish": "ranbp10", "ortholog_drosophila": "RanBPM", "screens": [] }, { "gene": "RANBP9", "ensembl_id": "ENSG00000010017", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAN binding protein 9 [Source:HGNC Symbol;Acc:HGNC:13727]", "omim_id": "603854", "functional_summary": "The GID/CTLH complex, including RANBP9 and RANBP10, has been identified as a component of the primary cilium. It is involved in ciliary signal transduction, particularly in pathways like Sonic Hedgehog (Shh) signaling. Disruption of this complex leads to ciliopathy-like phenotypes(PMID: 35543155).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5543155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000010017", "synonym": "RANBPM", "ortholog_mouse": "Ranbp9", "ortholog_c_elegans": "gid-1", "ortholog_xenopus": "ranbp9", "ortholog_zebrafish": "ranbp9", "ortholog_drosophila": "RanBPM", "screens": [] }, { "gene": "RANGAP1", "ensembl_id": "ENSG00000100401", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Ran GTPase activating protein 1 [Source:HGNC Symbol,Acc:HGNC:9854]", "omim_id": "602362", "functional_summary": "RANGAP1 has localized in basal body,flagella.", "localization": "basal body,flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Viral interactions", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF13516", "PF07834"], "domain_descriptions": ["Leucine-rich repeat", "Ran-GTPase activating protein 1", "C-terminal", "Ran GTPase-activating protein", "Leucine-rich repeat domain superfamily", "Ran-GTPase activating protein 1", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100401", "synonym": "FUG1, KIAA1835, SD", "ortholog_mouse": "Rangap1", "ortholog_c_elegans": "ran-2", "ortholog_xenopus": "rangap1", "ortholog_zebrafish": "rangap1a, rangap1b", "ortholog_drosophila": "RanGAP", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.2452, "sd_percent_ciliated": 1.3017, "z_score": -0.0926 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.62, "sd_percent_ciliated": 6.62, "z_score": 6.62 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4509, "sd_percent_ciliated": -3.4509, "z_score": -3.4509 } ] }, { "gene": "RAP1GAP2", "ensembl_id": "ENSG00000132359", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAP1 GTPase activating protein 2 [Source:HGNC Symbol,Acc:HGNC:29176]", "omim_id": "618714", "functional_summary": "GARNL4 localized to centrosome (21399614).", "localization": "basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "2.1399614E7", "complex_components": {}, "pfam_ids": ["PF02145", "PF21022"], "domain_descriptions": ["Rap/Ran-GAP domain", "Rap/Ran-GAP superfamily", "Rap1/Ran GTPase-activating"], "string_link": "https://string-db.org/network/9606/ENSG00000132359", "synonym": "GARNL4, KIAA1039", "ortholog_mouse": "Rap1gap2", "ortholog_c_elegans": "F53A10.2", "ortholog_xenopus": "rap1gap2", "ortholog_zebrafish": "rap1gap2a, rap1gap2b", "ortholog_drosophila": "RapGAP1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.575, "sd_percent_ciliated": 0.575, "z_score": 0.575, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4915, "sd_percent_ciliated": -0.4915, "z_score": -0.4915, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RAPGEF1", "ensembl_id": "ENSG00000107263", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol,Acc:HGNC:4568]", "omim_id": "600303", "functional_summary": "RAPGEF1 regulates centrosome duplication and maintains ciliary homeostasis, properties that could be important for its role in embryonic development(32371504).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.2371504E7", "complex_components": ["CRK", "CRKL", "PDGFRA", "RAPGEF1"], "pfam_ids": ["PF00617", "PF00618"], "domain_descriptions": ["Ras-like guanine nucleotide exchange factor", "N-terminal", "Ras guanine-nucleotide exchange factors catalytic domain", "Ras-like guanine nucleotide exchange factor", "Ras guanine-nucleotide exchange factor", "conserved site", "Ras guanine nucleotide exchange factor domain superfamily", "Ras guanine-nucleotide exchange factor", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000107263", "synonym": "C3G, GRF2", "ortholog_mouse": "Rapgef1", "ortholog_c_elegans": "Y34B4A.4", "ortholog_xenopus": "rapgef1", "ortholog_zebrafish": "rapgef1a, rapgef1b", "ortholog_drosophila": "C3G", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.9803, "z_score": 0.7785, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 46.5793, "z_score": 1.0383, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.1673 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 18.3, "z_score": 18.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 18.3 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2025, "z_score": -2.2025, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.2025 } ] }, { "gene": "RAPGEF3", "ensembl_id": "ENSG00000079337", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol,Acc:HGNC:16629]", "omim_id": "606057", "functional_summary": "Microtubule-associated proteins (MAPs) regulate cAMP sig lling through exchange protein directly activated by cAMP (EPAC) and P2Y12 and components of the EPAC 1 - 2 (one of the AKAP sig ling complex) are expressed in cholangiocyte cilia(18687752).", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.8687752E7", "complex_components": {}, "pfam_ids": ["PF00618", "PF00610", "PF00027", "PF00617"], "domain_descriptions": ["DEP domain", "Cyclic nucleotide-binding domain", "Ras-like guanine nucleotide exchange factor", "N-terminal", "Ras guanine-nucleotide exchange factors catalytic domain", "Ras-like guanine nucleotide exchange factor", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding domain superfamily", "Ras guanine-nucleotide exchange factor", "conserved site", "Ras guanine nucleotide exchange factor domain superfamily", "Ubiquitin-like domain superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Ras guanine-nucleotide exchange factor", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000079337", "synonym": "BCM910, CAMP-GEFI, EPAC", "ortholog_mouse": "Rapgef3", "ortholog_c_elegans": "epac-1", "ortholog_xenopus": "rapgef3", "ortholog_zebrafish": "rapgef3", "ortholog_drosophila": "Epac", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.725, "z_score": -1.6274, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 15.633, "z_score": -2.711, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.2348 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0277, "z_score": 0.0277, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.0277 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0304, "z_score": -1.0304, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.0304 } ] }, { "gene": "RAPGEF4", "ensembl_id": "ENSG00000091428", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol,Acc:HGNC:16626]", "omim_id": "606058", "functional_summary": "EPAC is expressed in cholangiocyte cilia (18687752)., Microtubule-associated proteins (MAPs) regulate cAMP sig lling through exchange protein directly activated by cAMP (EPAC) and P2Y12 and components of the EPAC 1 - 2 (one of the AKAP sig ling complex) are expressed in cholangiocyte cilia(18687752).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.8687752E7", "complex_components": ["ABCC8", "RAPGEF4"], "pfam_ids": ["PF00617", "PF00618", "PF00610", "PF00027"], "domain_descriptions": ["DEP domain", "Cyclic nucleotide-binding domain", "Ras-like guanine nucleotide exchange factor", "N-terminal", "Ras guanine-nucleotide exchange factors catalytic domain", "Ras-like guanine nucleotide exchange factor", "RmlC-like jelly roll fold", "Cyclic nucleotide-binding domain superfamily", "Ras guanine-nucleotide exchange factor", "conserved site", "Ras guanine nucleotide exchange factor domain superfamily", "Ubiquitin-like domain superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Ras guanine-nucleotide exchange factor", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000091428", "synonym": "CAMP-GEFII, CGEF2", "ortholog_mouse": "Rapgef4", "ortholog_c_elegans": "epac-1", "ortholog_xenopus": "rapgef4", "ortholog_zebrafish": "rapgef4a, rapgef4b", "ortholog_drosophila": "Epac", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.5978, "sd_percent_ciliated": 5.6942, "z_score": -0.6556 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.35, "sd_percent_ciliated": 5.35, "z_score": 5.35 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 3.6944, "sd_percent_ciliated": 3.6944, "z_score": 3.6944 } ] }, { "gene": "RAPSN", "ensembl_id": "ENSG00000165917", "overexpression_effects": "Decreased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "receptor associated protein of the synapse [Source:HGNC Symbol,Acc:HGNC:9863]", "omim_id": "601592", "functional_summary": "rapsyn and NUP88 localisation at basal bodys and cilia (33168876).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.3168876E7", "complex_components": {}, "pfam_ids": ["PF13181", "PF10579", "PF13639", "PF13424"], "domain_descriptions": ["43kDa postsynaptic protein", "Zinc finger", "RING-type", "Tetratricopeptide-like helical domain superfamily", "Zinc finger", "RING/FYVE/PHD-type", "43kDa postsynaptic", "conserved site", "Rapsyn", "myristoylation/linker region", "N-terminal", "Tetratricopeptide repeat", "Receptor-associated synaptic protein"], "string_link": "https://string-db.org/network/9606/ENSG00000165917", "synonym": "CMS1D, CMS1E, RNF205", "ortholog_mouse": "Rapsn", "ortholog_c_elegans": "rpy-1", "ortholog_xenopus": "rapsn", "ortholog_zebrafish": "rapsn", "ortholog_drosophila": "CG1909", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.8244, "sd_percent_ciliated": 10.2972, "z_score": 0.7045 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.651, "sd_percent_ciliated": 0.651, "z_score": 0.651 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.6544, "sd_percent_ciliated": -7.6544, "z_score": -7.6544 } ] }, { "gene": "RASA1", "ensembl_id": "ENSG00000145715", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RAS p21 protein activator 1 [Source:HGNC Symbol,Acc:HGNC:9871]", "omim_id": "139150", "functional_summary": "RASA1 has localized in basal body.", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["FYN", "LYN", "RASA1", "YES1", "AURKA", "BIRC5", "AURKB", "KHDRBS1", "PAG1"], "pfam_ids": ["PF00017", "PF00018", "PF00169", "PF00168", "PF00616"], "domain_descriptions": ["C2 domain", "SH2 domain", "SH3 domain", "Pleckstrin homology domain", "Ras GTPase-activating domain", "Rho GTPase activation protein", "PH-like domain superfamily", "Ras GTPase-activating protein", "conserved site", "RasGAP", "SH3 domain", "Ras GTPase-activating protein 1", "N-terminal SH2 domain", "Ras GTPase-activating protein 1", "C-terminal SH2 domain", "C2 domain superfamily", "SH3-like domain superfamily", "SH2 domain superfamily", "Ras GTPase-activating protein"], "string_link": "https://string-db.org/network/9606/ENSG00000145715", "synonym": "CM-AVM, GAP, P120, P120GAP, P120RASGAP, RASA", "ortholog_mouse": "Rasa1", "ortholog_xenopus": "rasa1", "ortholog_zebrafish": "rasa1a, rasa1b", "ortholog_drosophila": "vap", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.9246, "sd_percent_ciliated": 3.8611, "z_score": 0.3532 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.22, "sd_percent_ciliated": 3.22, "z_score": 3.22 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6792, "sd_percent_ciliated": 0.6792, "z_score": 0.6792 } ] }, { "gene": "RAX2", "ensembl_id": "ENSG00000173976", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "retina and anterior neural fold homeobox 2 [Source:HGNC Symbol,Acc:HGNC:18286]", "omim_id": "610362", "functional_summary": "Mutations in the RAX2 gene cause Cone-Rod Dystrophy (PMID: 25789692).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "25789692 ,25789692", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173976", "synonym": "ARMD6, CORD11, MGC15631, RAXL1", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_c_elegans": "ceh-8", "ortholog_xenopus": "rax2", "ortholog_zebrafish": "rx1, rx2", "ortholog_drosophila": "Rx", "screens": {} }, { "gene": "RB1", "ensembl_id": "ENSG00000139687", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "RB transcriptional corepressor 1 [Source:HGNC Symbol,Acc:HGNC:9884]", "omim_id": "614041", "functional_summary": "RB1 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, ECM & connective tissue, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["MORF4L1", "MRFAP1", "RB1", "E2F1", "LDB1", "LMO2", "TAL1", "TCF3", "TFAP2A", "DNMT1", "HDAC1", "SMARCA4", "E2F4", "BANF2", "C1QBP", "EMD", "H1-1", "H3C1", "HNRNPU", "LMNA", "LMNB1", "MCM2", "MCM4", "MCM6", "NMI", "RBL2", "SAP130", "CEBPE", "TRIM27", "HDAC2", "PA2G4", "AR", "HDAC3", "PPARG", "PPIA"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000139687", "synonym": "OSRC, PPP1R130, RB", "ortholog_mouse": "Rb1", "ortholog_xenopus": "rb1", "ortholog_zebrafish": "rb1", "ortholog_drosophila": "Rbf2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.8177, "sd_percent_ciliated": 3.1655, "z_score": -0.2655, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.63, "sd_percent_ciliated": 1.63, "z_score": 1.63, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1279, "sd_percent_ciliated": 0.1279, "z_score": 0.1279, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RBM5", "ensembl_id": "ENSG00000003756", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RNA binding motif protein 5 [Source:HGNC Symbol,Acc:HGNC:9902]", "omim_id": "606884", "functional_summary": "RBM5 has localized in basal body,flagella.", "localization": "basal body,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": ["ACIN1", "AGGF1", "BCAS2", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDC5L", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "CWC15", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PLRG1", "PNN", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF19", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RBMX", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SRRM1", "SRRM2", "SRRT", "SRSF1", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207"], "pfam_ids": ["PF17780", "PF00641", "PF00076", "PF01585"], "domain_descriptions": ["G-patch domain", "RNA recognition motif domain", "Zinc finger", "RanBP2-type", "Nucleotide-binding alpha-beta plait domain superfamily", "Zinc finger C2H2-type", "RNA-binding protein 5", "RNA recognition motif 1", "RNA-binding protein 5", "RNA recognition motif 2", "RNA-binding domain superfamily", "Zinc finger", "RanBP2-type superfamily", "OCRE domain"], "string_link": "https://string-db.org/network/9606/ENSG00000003756", "synonym": "H37, LUCA-15, LUCA15", "ortholog_mouse": "Rbm5", "ortholog_c_elegans": "rbm-5", "ortholog_xenopus": "rbm5", "ortholog_zebrafish": "rbm5", "ortholog_drosophila": "CG4887, CG4896", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.3541, "sd_percent_ciliated": 10.221, "z_score": -1.1698, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1208, "sd_percent_ciliated": -1.1208, "z_score": -1.1208, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RBP3", "ensembl_id": "ENSG00000265203", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "retinol binding protein 3 [Source:HGNC Symbol,Acc:HGNC:9921]", "omim_id": "180290", "functional_summary": "Mutations in the RBP3 gene cause Retinitis Pigmentosa (PMID: 19074801).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "1.9074801E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000265203", "synonym": "D10S64, D10S65, D10S66, IRBP, RP66", "ortholog_mouse": "Rbp3", "ortholog_xenopus": "rbp3", "ortholog_zebrafish": "rbp3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.4662, "sd_percent_ciliated": 6.0227, "z_score": 0.54 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.13, "sd_percent_ciliated": 0.13, "z_score": 0.13 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -11.5321, "sd_percent_ciliated": -11.5321, "z_score": -11.5321 } ] }, { "gene": "RBSN", "ensembl_id": "ENSG00000131381", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "rabenosyn, RAB effector [Source:HGNC Symbol;Acc:HGNC:20759]", "omim_id": "609511", "functional_summary": "Rabenosyn 5 localizes to the periciliary membrane compartment(29572244).", "localization": "periciliary membrane compartment", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "2.9572244E7", "complex_components": ["AP3D1", "AP3S1", "KIF3A", "RAB4A", "RBSN"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000131381", "synonym": "ZFYVE20", "ortholog_mouse": "Rbsn", "ortholog_c_elegans": "rabs-5", "ortholog_xenopus": "rbsn", "ortholog_drosophila": "Rbsn-5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.446, "sd_percent_ciliated": 0.446, "z_score": 0.446, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RCAN2", "ensembl_id": "ENSG00000172348", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "regulator of calcineurin 2 [Source:HGNC Symbol,Acc:HGNC:3041]", "omim_id": "604876", "functional_summary": "Negative regulator of calcineurin and modulates Ca2+ dependent sig lling. Required to maintain normal cilia length. Depletion in WT RPE-1 cells results in shorter cilia, whilst in giantin KO cells induces longer cilia (29643119).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "17013396, 25823377", "complex_components": {}, "pfam_ids": "PF04847", "domain_descriptions": ["Calcipressin", "Nucleotide-binding alpha-beta plait domain superfamily", "Calcipressin-2", "RNA recognition motif", "RNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000172348", "synonym": "DSCR1L1, ZAKI-4", "ortholog_mouse": "Rcan2", "ortholog_c_elegans": "rcan-1", "ortholog_xenopus": "rcan2", "ortholog_zebrafish": "rcan2", "ortholog_drosophila": "sra", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.776, "sd_percent_ciliated": 0.776, "z_score": 0.776, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -18.6498, "sd_percent_ciliated": -18.6498, "z_score": -18.6498, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RCBTB2", "ensembl_id": "ENSG00000136161", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "RCC1 and BTB domain containing protein 2 [Source:HGNC Symbol,Acc:HGNC:1914]", "omim_id": "603524", "functional_summary": "RC/BTB2 is a necessary component of the process of formation of primary cilia in somatic cells, perhaps through the transportation of cargos from Golgi bodies to centrosomes for cilia assembling(25762510).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "2.576251E7", "complex_components": {}, "pfam_ids": ["PF00415", "PF00651", "PF07707"], "domain_descriptions": ["BTB/POZ domain", "Regulator of chromosome condensation", "RCC1", "Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II", "SKP1/BTB/POZ domain superfamily", "Diverse Signaling and Regulatory Domain-Containing Protein", "BTB/Kelch-associated", "BTB/POZ domain-containing protein and Galectin-3-binding"], "string_link": "https://string-db.org/network/9606/ENSG00000136161", "synonym": "CHC1L", "ortholog_mouse": "Rcbtb2", "ortholog_xenopus": "rcbtb2", "ortholog_zebrafish": "rcbtb2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.486, "sd_percent_ciliated": 0.486, "z_score": 0.486, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7379, "sd_percent_ciliated": -3.7379, "z_score": -3.7379, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RCSD1", "ensembl_id": "ENSG00000198771", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RCSD domain containing 1 [Source:HGNC Symbol,Acc:HGNC:28310]", "omim_id": "610579", "functional_summary": "Also known as CAPZIP. Ortholog duboraya (dub), has been reported to be essential for actin organization in the cells lining Kupffer's vesicle, regulates ciliogenesis in a phosphorylation-dependent manner as well as left-right patterning in zebrafish ( 17013396). Phosphorylated by ERK7. Ciliogenesis regulations through CapZIP, requires Dvl binding to both ERK7 and CapZIP ( 25823377).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development, Muscle contraction & physiology", "reference": "20381594, 24424412, 22227339", "complex_components": {}, "pfam_ids": ["PF05177", "PF15255"], "domain_descriptions": ["RCSD", "FAM21/CAPZIP domain"], "string_link": "https://string-db.org/network/9606/ENSG00000198771", "synonym": "CAPZIP, MGC21854, MK2S4", "ortholog_mouse": "Rcsd1", "ortholog_xenopus": "rcsd1", "ortholog_zebrafish": "dub, zgc:153184", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.515, "sd_percent_ciliated": 0.515, "z_score": 0.515, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.3099, "sd_percent_ciliated": 1.3099, "z_score": 1.3099, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RCVRN", "ensembl_id": "ENSG00000109047", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "recoverin [Source:HGNC Symbol,Acc:HGNC:9937]", "omim_id": "179618", "functional_summary": "RCVRN has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF13499", "PF13833"], "domain_descriptions": ["EF-hand domain", "EF-hand domain pair", "EF-Hand 1", "calcium-binding site", "Recoverin family"], "string_link": "https://string-db.org/network/9606/ENSG00000109047", "synonym": "RCV1", "ortholog_mouse": "Rcvrn", "ortholog_c_elegans": "ncs-2", "ortholog_xenopus": "rcvrn", "ortholog_zebrafish": "rcvrn2, rcvrn3, rcvrna, rcvrnb", "ortholog_drosophila": "CG7646", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.07, "sd_percent_ciliated": 2.07, "z_score": 2.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.7123, "sd_percent_ciliated": -7.7123, "z_score": -7.7123, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RD3", "ensembl_id": "ENSG00000198570", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RD3 regulator of GUCY2D [Source:HGNC Symbol,Acc:HGNC:19689]", "omim_id": "180040", "functional_summary": "Mutations in the RD3 gene cause Leber Congenital Amaurosis (PMID: 17186464).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.7186464E7", "complex_components": ["GUCY2D", "RD3", "GUCA1A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000198570", "synonym": "C1ORF36, LCA12", "ortholog_mouse": "Rd3", "ortholog_xenopus": "rd3", "ortholog_zebrafish": "rd3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.625, "sd_percent_ciliated": 0.625, "z_score": 0.625, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1114, "sd_percent_ciliated": -3.1114, "z_score": -3.1114, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RDH12", "ensembl_id": "ENSG00000139988", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "retinol dehydrogenase 12 [Source:HGNC Symbol,Acc:HGNC:19977]", "functional_summary": "Mutations in the RDH12 gene cause Leber Congenital Amaurosis and Retinitis Pigmentosa (PMID: 17197551, 18779497).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17197551, 18779497 ,18779497", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000139988", "synonym": "FLJ30273, LCA13, RP53, SDR7C2", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rdh12", "ortholog_c_elegans": "dhs-22", "ortholog_zebrafish": "rdh12", "ortholog_drosophila": "CG30491, CG30495, CG3842, Rdh1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.5892, "sd_percent_ciliated": 3.3861, "z_score": -0.6567, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.41, "sd_percent_ciliated": 1.41, "z_score": 1.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2437, "sd_percent_ciliated": -0.2437, "z_score": -0.2437, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "REEP6", "ensembl_id": "ENSG00000115255", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "receptor accessory protein 6 [Source:HGNC Symbol,Acc:HGNC:30078]", "omim_id": "609346", "functional_summary": "Mutations in the REEP6 gene cause Retinitis Pigmentosa (PMID: 27889058).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7889058E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000115255", "synonym": "C19ORF32, DP1L1, FLJ25383, TB1, YIP2F", "ortholog_mouse": "Reep6", "ortholog_c_elegans": "F56B3.6, T03F6.6, yop-1", "ortholog_xenopus": "reep6", "ortholog_zebrafish": "reep6", "ortholog_drosophila": "CG4960, ReepB", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.178, "sd_percent_ciliated": 0.178, "z_score": 0.178, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6067, "sd_percent_ciliated": -0.6067, "z_score": -0.6067, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RELA", "ensembl_id": "ENSG00000173039", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "RELA proto-oncogene, NF-kB subunit [Source:HGNC Symbol;Acc:HGNC:9955]", "omim_id": "164014", "functional_summary": "To facilitate signal detection of γH2AX–53BP1 overlap, 53BP1 images were pseudocoloured with cyan. Scale bar, 20 μm. c, Top, whereas Syn-cre injection in wild-type mice and Ifnar1 deletion did not affect the number of cilia (n = 6 mice per group, 30 neurons per mouse) and PNNs (n = 6 mice per group, one slice of dorsal CA1 per mouse), Tlr9 and Rela knockout impaired ciliogenesis and PNN formation (top; one-way ANOVA; ACIII: P < 0.0001, F(4,25) = 97.47; PNNs: P < 0.0001, F(4,25) = 23.31). Representative micrographs depicting ACIII signals (middle, red arrows; scale bar, 20 μm) and PNNs (bottom, blue arrows; scale bar, 100 μm). Wisteria floribunda lectin (WFN). Data are mean ± s.e.m. (38538785)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3.8538785E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173039", "synonym": "NFKB3; P65", "ortholog_mouse": "Rela", "ortholog_xenopus": "rela", "ortholog_zebrafish": "rela", "ortholog_drosophila": "Dif, dl", "screens": [] }, { "gene": "RER1", "ensembl_id": "ENSG00000157916", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "No effect", "description": "retention in endoplasmic reticulum sorting receptor 1 [Source:HGNC Symbol;Acc:HGNC:30309]", "omim_id": "620048", "functional_summary": "We identified Rer1p as the first endoplasmic reticulum/cis-Golgi-localized membrane protein involved in ciliogenesis. Rer1p, a protein quality control receptor, was highly expressed in zebrafish ciliated organs and regulated ciliary structure and function. Both in zebrafish and mammalian cells, loss of Rer1p resulted in the shortening of cilium and impairment of its motile or sensory function, which was reflected by hearing, vision, and left-right asymmetry defects as well as decreased Hedgehog signaling. We further demonstrate that Rer1p depletion reduced ciliary length and function by increasing γ-secretase complex assembly and activity and, consequently, enhancing Notch signaling as well as reducing Foxj1a expression(23479743).", "localization": "Ciliary associated gene, Endoplasmic reticulum, Golgi", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3479743E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000157916", "ortholog_mouse": "Rer1", "ortholog_c_elegans": "rer-1", "ortholog_xenopus": "rer1", "ortholog_zebrafish": "rer1", "ortholog_drosophila": "Rer1", "screens": [] }, { "gene": "RFX2", "ensembl_id": "ENSG00000087903", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "regulatory factor X2 [Source:HGNC Symbol,Acc:HGNC:9983]", "omim_id": "142765", "functional_summary": "Involved in regulation of ALMS1 in vivo, by binding its promoter (20381594). Coordi tes multiple, distinct gene expression programs in MCCs, regulating genes encoding axonemal dynein subunits, components of the transition zone anb BBSome, centriolar genes and pla r cell polarity (PCP) effector fritz/wdpcp. It also regulates the extracellular matrix component dag1, which is a regulator of MCC insertion (24424412). Critical regulator of vertebrate ciliogenesis. Knockdown results in phenotypes associated with defective cilia, such as disruption of neural tube closure and left鈥搑ight asymmetry (22227339).", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Transition zone, ECM & connective tissue", "reference": "19671664, 15121860, 23822649 ,22227339", "complex_components": {}, "pfam_ids": ["PF02257", "PF04589"], "domain_descriptions": ["DNA-binding RFX-type winged-helix domain", "RFX1 transcription activation region", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "RFX-like DNA-binding protein"], "string_link": "https://string-db.org/network/9606/ENSG00000087903", "synonym": "FLJ14226", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rfx2", "ortholog_c_elegans": "daf-19", "ortholog_xenopus": "rfx2", "ortholog_zebrafish": "rfx2", "ortholog_drosophila": "Rfx", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.9912, "sd_percent_ciliated": 3.8941, "z_score": 0.4824, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.66, "sd_percent_ciliated": 1.66, "z_score": 1.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0957, "sd_percent_ciliated": -1.0957, "z_score": -1.0957, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RFX3", "ensembl_id": "ENSG00000080298", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "regulatory factor X3 [Source:HGNC Symbol,Acc:HGNC:9984]", "omim_id": "601337", "functional_summary": "Transcription factor regulating expression of ciliary assembly (like Dync2li1, Foxj1 and Bbs4) and axonemal dyneins involved in ciliary motility (D hc11, D hc9 and D hc5), by binding directly to the promoters of their genes. Regulates the orthologs of genes involved inhuman PCD. It may also cooperate with FOXJ1 to regulate the expression of cilia genes ( 19671664). Regulates the expression of D2lic in mouse, a gene implicated in intraflagellar transport, a proces required for the assembly and mainte nce of cilia. RFX3 is essential for the differentiation of nodal monocilia and for LR patterning ( 15121860). Together with FOXJ1, plays a role in modulating differentiation in multiciliated cells ( 23822649).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Cell migration & adhesion, Transcription regulation", "reference": "19887680, 29298325, 24530844 ,15121860", "complex_components": {}, "pfam_ids": ["PF04589", "PF02257"], "domain_descriptions": ["DNA-binding RFX-type winged-helix domain", "RFX1 transcription activation region", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "RFX-like DNA-binding protein"], "string_link": "https://string-db.org/network/9606/ENSG00000080298", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rfx3", "ortholog_c_elegans": "daf-19", "ortholog_xenopus": "rfx3", "ortholog_zebrafish": "rfx3", "ortholog_drosophila": "Rfx", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.4821, "sd_percent_ciliated": 4.9087, "z_score": 0.1784 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.43, "sd_percent_ciliated": 1.43, "z_score": 1.43 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5661, "sd_percent_ciliated": -1.5661, "z_score": -1.5661 } ] }, { "gene": "RFX4", "ensembl_id": "ENSG00000111783", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "regulatory factor X4 [Source:HGNC Symbol,Acc:HGNC:9985]", "omim_id": "603958", "functional_summary": "Modulates Shh sig ling and and Gli3 processing by regio l control of ciliogenesis and function of primary cilia. Rfx4 nuclear translocation and/or transcriptio l activity, may be regulated by phosphorylation. Required for ciliogenesis in the neural tube ( 19887680). It appears to regulate different genes than RFX3, as Rfx4 KO embryos exhibite different phenotypes from those with Rfx3 and Foxj1 mutations ( 29298325). RFX4 expression is controlled positively by RFX7 or negatively by Foxj1 during neural tube closure ( 24530844).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "24530844 ,19887680", "complex_components": {}, "pfam_ids": "PF02257", "domain_descriptions": ["DNA-binding RFX-type winged-helix domain", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "RFX-like DNA-binding protein"], "string_link": "https://string-db.org/network/9606/ENSG00000111783", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rfx4", "ortholog_xenopus": "rfx4", "ortholog_zebrafish": "rfx4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.148, "sd_percent_ciliated": 1.9138, "z_score": -0.7101 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6044, "sd_percent_ciliated": -0.6044, "z_score": -0.6044 } ] }, { "gene": "RFX7", "ensembl_id": "ENSG00000181827", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "regulatory factor X7 [Source:HGNC Symbol,Acc:HGNC:25777]", "omim_id": "612660", "functional_summary": "Highly expressed in Brain. RFX7 controls positively the formation of cilia by regulating the expression of RFX4 gene. Involved in complete neural tube closure (24530844).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "23966685, 32343782", "complex_components": {}, "pfam_ids": ["PF18326", "PF02257"], "domain_descriptions": ["DNA-binding RFX-type winged-helix domain", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "RFX-like DNA-binding protein"], "string_link": "https://string-db.org/network/9606/ENSG00000181827", "synonym": "FLJ12994, RFXDC2", "ortholog_mouse": "Rfx7", "ortholog_xenopus": "rfx7", "ortholog_zebrafish": "rfx7a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.236, "sd_percent_ciliated": 0.236, "z_score": 0.236, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4995, "sd_percent_ciliated": 0.4995, "z_score": 0.4995, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RGR", "ensembl_id": "ENSG00000148604", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "retinal G protein coupled receptor [Source:HGNC Symbol,Acc:HGNC:9990]", "omim_id": "600342", "functional_summary": "Mutations in the RGR gene cause Retinitis Pigmentosa (PMID: 10581022, 21067480).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "10581022, 21067480", "complex_components": ["RDH5", "RGR", "RPE65"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000148604", "synonym": "RP44", "ortholog_mouse": "Rgr", "ortholog_xenopus": "rgr", "ortholog_zebrafish": "rgra, rgrb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.2022, "sd_percent_ciliated": 4.4407, "z_score": -0.2189 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.229, "sd_percent_ciliated": 0.229, "z_score": 0.229 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5711, "sd_percent_ciliated": -2.5711, "z_score": -2.5711 } ] }, { "gene": "RGS5", "ensembl_id": "ENSG00000143248", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "regulator of G protein signaling 5 [Source:HGNC Symbol,Acc:HGNC:10001]", "omim_id": "603276", "functional_summary": "RGS5 is an endogenous regulator of Hh-mediated sig ling and that RGS proteins are potential targets for novel therapeutics in Hh-mediated diseases(PMID: 23637832).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.3637832E7", "complex_components": {}, "pfam_ids": "PF00615", "domain_descriptions": ["RGS domain", "RGS", "subdomain 1/3", "Regulator of G-protein signalling 5", "RGS domain", "RGS domain superfamily", "RGS", "subdomain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000143248", "ortholog_mouse": "Rgs5", "ortholog_c_elegans": "rgs-10, rgs-9", "ortholog_xenopus": "rgs5", "ortholog_zebrafish": "rgs5a, rgs5b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4673, "sd_percent_ciliated": 2.9396, "z_score": -0.9138 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8552, "sd_percent_ciliated": -2.8552, "z_score": -2.8552 } ] }, { "gene": "RGS8", "ensembl_id": "ENSG00000135824", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "regulator of G protein signaling 8 [Source:HGNC Symbol,Acc:HGNC:16810]", "omim_id": "607189", "functional_summary": "MCHR1-positive primary cilia are significantly elongated in the CA1 of RGS8tg, compared with that in wild mice. Depression-like behavior in RGS8tg might result through RGS8-ciliary MCHR1 interaction in the CA1 region ( 29758252).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9758252E7", "complex_components": {}, "pfam_ids": "PF00615", "domain_descriptions": ["RGS domain", "RGS", "subdomain 1/3", "Regulator of G-protein signalling 8", "RGS domain", "RGS domain superfamily", "RGS", "subdomain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000135824", "synonym": "MGC119067, MGC119068, MGC119069", "ortholog_mouse": "Rgs8", "ortholog_c_elegans": "rgs-10, rgs-9", "ortholog_xenopus": "rgs8", "ortholog_zebrafish": "rgs8", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5206, "sd_percent_ciliated": 8.5293, "z_score": 0.3043 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.7062, "sd_percent_ciliated": -0.7062, "z_score": -0.7062 } ] }, { "gene": "RGS9BP", "ensembl_id": "ENSG00000186326", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "regulator of G protein signaling 9 binding protein [Source:HGNC Symbol,Acc:HGNC:30304]", "omim_id": "607814", "functional_summary": "RGS9BP has localized in flagella.", "localization": "flagella", "functional_category": "Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": ["GNAT1", "GNB5", "RGS9", "RGS9BP"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000186326", "synonym": "FLJ45744, PERRS, R9AP", "ortholog_mouse": "Rgs9bp", "ortholog_xenopus": "rgs9bp", "ortholog_zebrafish": "rgs9bp, si:ch73-167i17.6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1339, "sd_percent_ciliated": 0.1339, "z_score": 0.1339, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RHO", "ensembl_id": "ENSG00000163914", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "rhodopsin [Source:HGNC Symbol,Acc:HGNC:10012]", "omim_id": "180380", "functional_summary": "Cilia-specific GPCR essential for vision. Multiple roles in trafficking, interacts with Arf4, TcTex-1 and SARA (23966685). Mutations cause protein misfolding and retention in the endoplasmic reticulum, leading to cellular stress and cell death. Mutations are associated with retinitis pigmentosa (32343782).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "23264467, 29125462, 30398148, 1303237 ,1303237", "complex_components": ["PRCD", "RHO"], "pfam_ids": ["PF00001", "PF10413"], "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Rhodopsin", "Opsin", "GPCR", "rhodopsin-like", "7TM", "Rhodopsin", "N-terminal", "Visual pigments (opsins) retinal binding site", "G-protein coupled receptor opsins"], "string_link": "https://string-db.org/network/9606/ENSG00000163914", "synonym": "CSNBAD1, OPN2, RP4", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rho", "ortholog_xenopus": "rho", "ortholog_zebrafish": "exorh, rho, rhol", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.0788, "z_score": -1.7378, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 17.2574, "z_score": -2.5142, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.376 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0912, "z_score": 0.0912, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.0912 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.2899, "z_score": -5.2899, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.2899 } ] }, { "gene": "RHOA", "ensembl_id": "ENSG00000067560", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "ras homolog family member A [Source:HGNC Symbol,Acc:HGNC:667]", "omim_id": "165390", "functional_summary": "p190A specifically at the basal body to promote ciliogenesis through a local dampening of Rho GTPase-dependent F-actin polymerization. In both wild type and Arhgap35D34/D34 proximal tubules Rac1 and RhoA are enriched at the basal bodies to similar degrees (26859289).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "2.6859289E7", "complex_components": ["ITPR1", "RHOA", "TRPC1", "ACTA2", "CNN1", "IRAG1", "PLN", "PRKG1", "MPRIP", "PPP1R12A", "ARHGEF25", "GNAQ", "RAC1", "VANGL2"], "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTPase Rho", "Small GTP-binding domain", "P-loop containing nucleoside triphosphate hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000067560", "synonym": "ARH12, ARHA, RHO12, RHOH12", "ortholog_mouse": "Rhoa", "ortholog_c_elegans": "rho-1", "ortholog_xenopus": "rhoa.2, rhoc", "ortholog_zebrafish": "rhoaa, rhoab, rhoac, rhocb", "ortholog_drosophila": "Rho1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 53.3004, "sd_percent_ciliated": 15.1315, "z_score": 1.8526 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11, "sd_percent_ciliated": 11, "z_score": 11 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.2778, "sd_percent_ciliated": -3.2778, "z_score": -3.2778 } ] }, { "gene": "RHOU", "ensembl_id": "ENSG00000284984", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ras homolog family member U [Source:HGNC Symbol,Acc:HGNC:17794]", "omim_id": "606366", "functional_summary": "RHOU has localized in primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000284984", "synonym": "ARHU, CDC42L1, DJ646B12.2, FJ646B12.2, FLJ10616, HG28K, WRCH-1, WRCH1", "ortholog_mouse": "Rhou", "ortholog_c_elegans": "chw-1", "ortholog_xenopus": "rhou", "ortholog_zebrafish": "rhoua, rhoub", "ortholog_drosophila": "RhoU", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.5342, "sd_percent_ciliated": 0.361, "z_score": 0.9117, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.525, "sd_percent_ciliated": -2.525, "z_score": -2.525, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RIBC1", "ensembl_id": "ENSG00000158423", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RIB43A domain with coiled-coils 1 [Source:HGNC Symbol,Acc:HGNC:26537]", "functional_summary": "RIBC1 (RIB43A domain with coiled-coils 1) and RIBC2 (RIB43A domain with coiled-coils 2) are homolog proteins of RIB43a which is localized to in the cilia and flagella of unicellular organisms (40265983).", "localization": "cilia ,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "4.0265983E7", "complex_components": {}, "pfam_ids": "PF05914", "domain_descriptions": "RIB43A", "string_link": "https://string-db.org/network/9606/ENSG00000158423", "synonym": "FLJ32783", "ortholog_mouse": "Ribc1", "ortholog_xenopus": "ribc1", "ortholog_zebrafish": "ribc1", "ortholog_drosophila": "CG7264", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.84, "sd_percent_ciliated": 0.84, "z_score": 0.84, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.9534, "sd_percent_ciliated": 2.9534, "z_score": 2.9534, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RIBC2", "ensembl_id": "ENSG00000128408", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RIB43A domain with coiled-coils 2 [Source:HGNC Symbol,Acc:HGNC:13241]", "functional_summary": "RIBC1 (RIB43A domain with coiled-coils 1) and RIBC2 (RIB43A domain with coiled-coils 2) are homolog proteins of RIB43a which is localized to in the cilia and flagella of unicellular organisms (40265983).", "localization": "cilia ,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "4.0265983E7", "complex_components": {}, "pfam_ids": "PF05914", "domain_descriptions": "RIB43A", "string_link": "https://string-db.org/network/9606/ENSG00000128408", "synonym": "C22ORF11, DKFZP566F0546, FLJ25720", "ortholog_mouse": "Ribc2", "ortholog_xenopus": "ribc2", "ortholog_zebrafish": "ribc2", "ortholog_drosophila": "CG7264", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RILPL1", "ensembl_id": "ENSG00000188026", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "Rab interacting lysosomal protein like 1 [Source:HGNC Symbol,Acc:HGNC:26814]", "omim_id": "614092", "functional_summary": "Rab effector-related protein, regulates protein concentration by removal of membrane proteins from the cilium. Depletion results in accumulation of sig ling proteins in the ciliary membrane, including Smo. Interacts with activated Rab34, Rab36, Rab12 and Rab40B (23264467). Interacts with the LRRK2- phosphorylated forms of Rab8A and Rab10 (29125462). Enhances pRab10 clustering on pericentriolar membranes to suppress ciliogenesis (30398148).", "localization": "cilia, basal body, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane", "reference": "23264467, 29125462", "complex_components": {}, "pfam_ids": ["PF11461", "PF09744"], "domain_descriptions": ["Rab interacting lysosomal protein", "dimerization domain", "RH1 domain", "RH2 domain", "DZIP and RILPL"], "string_link": "https://string-db.org/network/9606/ENSG00000188026", "synonym": "FLJ39378", "ortholog_mouse": "Rilpl1", "ortholog_c_elegans": "rilp-1", "ortholog_xenopus": "rilpl1", "ortholog_zebrafish": "rilpl1", "ortholog_drosophila": "Rilpl", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.471, "sd_percent_ciliated": 0.471, "z_score": 0.471, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2358, "sd_percent_ciliated": -2.2358, "z_score": -2.2358, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RILPL2", "ensembl_id": "ENSG00000150977", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Rab interacting lysosomal protein like 2 [Source:HGNC Symbol,Acc:HGNC:28787]", "omim_id": "614093", "functional_summary": "Rab effector-related protein that exhibist dy mic localisation, regulates protein concentration by removal of membrane proteins from the cilium.. Depletion results in accumulation of sig ling proteins in the ciliary membrane, including Smo. Interacts with activated Rab34 and Rab36 (23264467). Binds to phosphorylated Rab8A, Rab10, and Rab12. As it binds Rab8a much stronger than RILPL1, RILPL2 might be a key effector specific for pRab8A (29125462).", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Ciliary membrane", "reference": "3.0280293E7", "complex_components": {}, "pfam_ids": ["PF11461", "PF09744"], "domain_descriptions": ["Rab interacting lysosomal protein", "dimerization domain", "RH1 domain", "RH2 domain", "DZIP and RILPL"], "string_link": "https://string-db.org/network/9606/ENSG00000150977", "synonym": "FLJ30380, FLJ32372, MGC7036", "ortholog_mouse": "Rilpl2", "ortholog_xenopus": "rilpl2", "ortholog_zebrafish": "rilpl2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.14, "sd_percent_ciliated": 2.14, "z_score": 2.14, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.8486, "sd_percent_ciliated": -8.8486, "z_score": -8.8486, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RIMS1", "ensembl_id": "ENSG00000079841", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "regulating synaptic membrane exocytosis 1 [Source:HGNC Symbol,Acc:HGNC:17282]", "omim_id": "606629", "functional_summary": "Mutations in the RIMS1 gene cause Cone-Rod Dystrophy (PMID: 9634506, 12659814).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "9634506, 12659814 ,9634506, 12659814", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000079841", "synonym": "CORD7, KIAA0340, RAB3IP2, RIM, RIM1", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rims1", "ortholog_c_elegans": "unc-10", "ortholog_xenopus": "rims1", "ortholog_zebrafish": "rims1a, rims1b", "ortholog_drosophila": "Rim", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.9446, "sd_percent_ciliated": 3.215, "z_score": 0.2345, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.396, "sd_percent_ciliated": 0.396, "z_score": 0.396, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.5703, "sd_percent_ciliated": -5.5703, "z_score": -5.5703, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RIPOR2", "ensembl_id": "ENSG00000111913", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RHO family interacting cell polarization regulator 2 [Source:HGNC Symbol,Acc:HGNC:13872]", "omim_id": "611410", "functional_summary": "Mutations cause deafness. Interacts with Myh9, which is related to deafness. Regulates the abundance and post translatio l modifications of proteins highly expressed within the kinocilium , which suggestes a role in hair bundle morphogenesis (30280293).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Cardiac & muscle development", "reference": "20592197, 32716032, 29961824, 30630813", "complex_components": {}, "pfam_ids": "PF15903", "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "RIPOR family member 3", "FAM65", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000111913", "synonym": "C6ORF32, DIFF48, FAM65B, KIAA0386, MYONAP", "ortholog_mouse": "Ripor2", "ortholog_c_elegans": "Y37A1A.4", "ortholog_xenopus": "ripor2", "ortholog_zebrafish": "ripor2", "screens": {} }, { "gene": "RMND5A", "ensembl_id": "ENSG00000153561", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "required for meiotic nuclear division 5 homolog A [Source:HGNC Symbol;Acc:HGNC:25850]", "omim_id": "618964", "functional_summary": "RMND5A and TWA1 are present at the basal body, at the axoneme in primary cilia and motile mono-cilia, and at the centrioles in cycling cells, and other integral components of the GID complex(ARMC8 and MKLN1) are present at the axoneme in primary cilia, suggesting that the GID complex has a function at the primary cilium(35543155).", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "3.5543155E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000153561", "synonym": "FLJ13910, GID2, GID2A, P44CTLH, RMD5", "ortholog_mouse": "Rmnd5a", "ortholog_c_elegans": "gid-2", "ortholog_xenopus": "rmnd5a", "ortholog_drosophila": "Sou", "screens": [] }, { "gene": "RNF34", "ensembl_id": "ENSG00000170633", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ring finger protein 34 [Source:HGNC Symbol,Acc:HGNC:17297]", "omim_id": "608299", "functional_summary": "UBE2E1 underwent auto-ubiquiti tion and that ubiquiti tion was enhanced but not dependent on RNF34 (35170427).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5170427E7", "complex_components": {}, "pfam_ids": ["PF22968", "PF13920", "PF23632", "PF21272"], "domain_descriptions": ["Zinc finger", "RING-type", "Zinc finger", "RING/FYVE/PHD-type", "SAP domain superfamily", "RING-FYVE domain-containing E3 ubiquitin-protein ligase", "E3 ubiquitin-protein ligase rififylin", "HeH domain", "Zinc finger", "FYVE/PHD-type", "E3 ubiquitin-protein ligase CARP1/2", "FYVE/PHD zinc finger", "E3 ubiquitin-protein ligase CARP1", "FYVE/PHD zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000170633", "synonym": "FLJ21786, RIF, RIFF", "ortholog_mouse": "Rnf34", "ortholog_xenopus": "rnf34", "ortholog_zebrafish": "rnf34a, rnf34b", "ortholog_drosophila": "CG17019", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.6467, "z_score": -1.2907, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 22.0048, "z_score": -1.939, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.6998 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.34, "z_score": 2.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.34 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4774, "z_score": -0.4774, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.4774 } ] }, { "gene": "RNPEP", "ensembl_id": "ENSG00000176393", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "arginyl aminopeptidase [Source:HGNC Symbol,Acc:HGNC:10078]", "omim_id": "602675", "functional_summary": "RNPEP has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF09127", "PF01433", "PF17900"], "domain_descriptions": ["Peptidase M1", "alanine aminopeptidase/leukotriene A4 hydrolase", "Peptidase M1", "membrane alanine aminopeptidase", "Peptidase M1", "leukotriene A4 hydrolase/aminopeptidase C-terminal", "Armadillo-type fold", "Peptidase M4/M1", "CTD superfamily", "Aminopeptidase", "leukotriene A4 hydrolase-like", "Peptidase M1", "LTA-4 hydrolase/aminopeptidase", "C-terminal domain superfamily", "Aminopeptidase N-like ", "N-terminal domain superfamliy", "Aminopeptidase N-like ", "N-terminal domain", "Leukotriene A4 hydrolase-like", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000176393", "synonym": "APB", "ortholog_mouse": "Rnpep", "ortholog_xenopus": "rnpep", "ortholog_zebrafish": "rnpep", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.7266, "z_score": 0.387, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 57.3838, "z_score": 2.3474, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.1315 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.02, "z_score": 3.02, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.02 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.5044, "z_score": -6.5044, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.5044 } ] }, { "gene": "RNPS1", "ensembl_id": "ENSG00000205937", "lof_effects": "Supernumerary cilia", "description": "RNA binding protein with serine rich domain 1 [Source:HGNC Symbol;Acc:HGNC:10080]", "omim_id": "606447", "functional_summary": "Loss of RNPS1 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000205937", "ortholog_mouse": "Rnps1", "ortholog_c_elegans": "rnp-5", "ortholog_xenopus": "rnps1", "ortholog_zebrafish": "rnps1", "ortholog_drosophila": "CG34334, RnpS1", "screens": [] }, { "gene": "RNU4ATAC", "ensembl_id": "ENSG00000264229", "overexpression_effects": "Not Reported", "lof_effects": "Cilia defects", "percent_ciliated_cells_effects": "Decreased", "description": "RNA, U4atac small nuclear [Source:HGNC Symbol,Acc:HGNC:34016]", "omim_id": "601428", "functional_summary": "Mutations in the RNU4ATAC gene cause Joubert Syndrome. Regarding ciliogenesis, we analyzed the percentage of ciliated cells and cilium length, based on immunostainings of cilia with an antibody anti-Arl13b, which revealed slight ciliogenesis alterations in the TALS cell line but not in P1 patient cells Hence, altogether, these results indicate that loss of U4atac function impairs primary cilium function (AC3-dependant cAMP signaling, Hh) rather than cilium formation. This could be explained by the fact that six U12 genes encode components of the transition zone, an essential filter barrier that controls the entry and exit of ciliary proteins in and out of the cilium. (PMID: 36802443).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.6802443E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000264229", "synonym": "RNU4ATAC1, U4ATAC", "ciliopathy": "Joubert syndrome", "screens": {} }, { "gene": "RO60", "ensembl_id": "ENSG00000116747", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Ro60, Y RNA binding protein [Source:HGNC Symbol,Acc:HGNC:11313]", "omim_id": "600063", "functional_summary": "RO60 has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,21289087", "complex_components": ["CHUK", "CREBBP", "IKBKB", "IKBKG", "NCOA2", "NCOA3", "RO60", "NCOA1"], "pfam_ids": ["PF25045", "PF05731"], "domain_descriptions": ["TROVE domain", "von Willebrand factor A-like domain superfamily", "TROVE domain superfamily", "RNA-binding protein RO60", "RNA-binding protein RO60", "vWA domain"], "string_link": "https://string-db.org/network/9606/ENSG00000116747", "synonym": "SSA2, TROVE2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ro60", "ortholog_c_elegans": "rop-1", "ortholog_xenopus": "ro60", "ortholog_zebrafish": "ro60", "ortholog_drosophila": "CG10803", "screens": {} }, { "gene": "ROBO1", "ensembl_id": "ENSG00000169855", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "roundabout guidance receptor 1 [Source:HGNC Symbol,Acc:HGNC:10249]", "omim_id": "602430", "functional_summary": "ROBO1 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF13927", "PF07679", "PF00041"], "domain_descriptions": ["Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Fibronectin type III", "Immunoglobulin-like domain", "Immunoglobulin I-set", "Immunoglobulin V-set domain", "Immunoglobulin-like fold", "Roundabout homologue 1", "immunoglobulin-like domain 3", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Neural and epithelial cell adhesion domain-containing protein", "Striated Muscle Structural and Regulatory Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000169855", "synonym": "DUTT1, FLJ21882, SAX3", "ortholog_mouse": "Robo1", "ortholog_c_elegans": "sax-3", "ortholog_xenopus": "robo1", "ortholog_zebrafish": "robo1", "ortholog_drosophila": "robo1, robo2, robo3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.0169, "sd_percent_ciliated": 3.0756, "z_score": 0.1221, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.821, "sd_percent_ciliated": 0.821, "z_score": 0.821, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5959, "sd_percent_ciliated": -3.5959, "z_score": -3.5959, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ROM1", "ensembl_id": "ENSG00000149489", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "retinal outer segment membrane protein 1 [Source:HGNC Symbol,Acc:HGNC:10254]", "omim_id": "180721", "functional_summary": "Outer segment protein. Its localisation depends on AHI1 (20592197). Non- covalently linked PRPH2/ROM1 complex can initiate OS formation, whilst covalent oligomerisation is required for proper OS maturation (32716032, 29961824). Creates and maintains the rim region of rod discs and cone lamellae and help to regulate disc size and alignment (29961824). Homozygous frameshift mutation has been recently associated with pattern dystrophy (30630813).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "22021175, 8202715 ,8202715", "complex_components": {}, "pfam_ids": "PF00335", "domain_descriptions": ["Peripherin/rom-1", "Tetraspanin", "EC2 domain superfamily", "Peripherin/rom-1", "conserved site", "Tetraspanin/Peripherin", "Peripherin", "extracellular domain"], "string_link": "https://string-db.org/network/9606/ENSG00000149489", "synonym": "ROM, TSPAN23", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rom1", "ortholog_xenopus": "rom1", "ortholog_zebrafish": "rom1a, rom1b", "ortholog_drosophila": "Tsp33B", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.8178, "sd_percent_ciliated": 2.6563, "z_score": 0.8249 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8582, "sd_percent_ciliated": -0.8582, "z_score": -0.8582 } ] }, { "gene": "ROPN1B", "ensembl_id": "ENSG00000114547", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "rhophilin associated tail protein 1B [Source:HGNC Symbol,Acc:HGNC:31927]", "functional_summary": "ROPN1B has localized in flagella.", "localization": "flagella", "functional_category": "Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000114547", "ortholog_mouse": "Ropn1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.5145, "sd_percent_ciliated": 5.5402, "z_score": 0.7882, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" } ] }, { "gene": "ROPN1L", "ensembl_id": "ENSG00000145491", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "rhophilin associated tail protein 1 like [Source:HGNC Symbol,Acc:HGNC:24060]", "omim_id": "611756", "functional_summary": "Functions as a key molecule in the mainte nce of basal ciliary beat frequency. Its role in ciliary motility coulb be played via regulation of axonemal sig ling (22021175)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "10401003, 15269252, 11773008, 19657028", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000145491", "synonym": "ASP, FLJ25776, LINC01513, RP11-1C1.7, RSPH11, TCONS_00009352", "ortholog_mouse": "Ropn1l", "ortholog_xenopus": "ropn1l", "ortholog_zebrafish": "ropn1l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.229, "sd_percent_ciliated": 0.229, "z_score": 0.229, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5066, "sd_percent_ciliated": -2.5066, "z_score": -2.5066, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RP1", "ensembl_id": "ENSG00000104237", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "RP1 axonemal microtubule associated [Source:HGNC Symbol,Acc:HGNC:10263]", "omim_id": "603937", "functional_summary": "Nonsense mutation associated with retinitis pigmentosa (10401003). Microtubule- associated protein containing the doublecortin (DCX) domain. Disruption of Rp1 in mice causes misorientation of outer segment discs, suggesting a role in outer segment organisation. Stimulates microtubule polymerization and stabilise existing in vitro and in vivo, therefore, it controls the length and stability of the photoreceptor axoneme (15269252). Due to Rp1 localisation, it may be involved in the formation of outer segments (11773008). Plays synergistic role with Rp1L1 in affecting photosensitivity and OS morphogenesis of rod photoreceptors (19657028).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "19657028, 20826268, 10391211 ,10391211", "complex_components": {}, "pfam_ids": ["PF01477", "PF03607"], "domain_descriptions": ["PLAT/LH2 domain", "Doublecortin domain", "Cytokine IL1/FGF", "PLAT/LH2 domain superfamily", "Doublecortin domain superfamily", "Inner ear hair cell lipoxygenase homology domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000104237", "synonym": "DCDC4A, ORP1", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.6019, "sd_percent_ciliated": 5.064, "z_score": -0.1705, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.01, "sd_percent_ciliated": 4.01, "z_score": 4.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1125, "sd_percent_ciliated": -4.1125, "z_score": -4.1125, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RP1L1", "ensembl_id": "ENSG00000292297", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RP1 like 1 [Source:HGNC Symbol,Acc:HGNC:15946]", "omim_id": "608581", "functional_summary": "Shares similar DCX tandem repeats and a 34 aa domain (RP1D) with Rp1. Plays essential and synergistic roles with Rp1 in affecting photosensitivity and OS morphogenesis of rod photoreceptors. Mutations in RP1L1 could underlie retinopathy or modify RP1 disease expression in humans (19657028). Mutations in RP1L1 have been associated with occult macular dystrophy and RP (20826268)", "localization": "flagella, basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "28444310, 20106869, 20729296, 21285245, 9697692, 23281133, 31833436", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292297", "synonym": "DCDC4B", "ortholog_mouse": "Rp1l1", "ortholog_xenopus": "rp1l1", "ortholog_zebrafish": "rp1l1a, rp1l1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.7743, "sd_percent_ciliated": 6.5451, "z_score": -0.9977, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.64, "sd_percent_ciliated": 3.64, "z_score": 3.64, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8287, "sd_percent_ciliated": -2.8287, "z_score": -2.8287, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RP2", "ensembl_id": "ENSG00000102218", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "RP2 activator of ARL3 GTPase [Source:HGNC Symbol,Acc:HGNC:10274]", "omim_id": "300757", "functional_summary": "Interacts with Arl3 and mediates the localization of GFP-Kif17 to the cilia tip and interacts with the regulator of Hedgehog (Hh) sig ling Kif7. This suggests RP2 is implicated primary cilia protein trafficking via the regulation of kinesin motor proteins at the ciliary tip (28444310). Loss of RP2 leads to fragmentation of the Golgi network and dispersal of vesicles cycling cargo from the Golgi complex to the cilium, including IFT20. It indicates a role for RP2 in regulating vesicle traffic and docking from the Golgi to the base of the cilium (20106869). Interacts with polycystin 2 and regulates its trafficking within the cilium (20729296). RP2 entry to the ciliary compartiment is regulated by Importin 尾2 (21285245). Mutations are associated with with X- linked retinitis pigmentosa (9697692).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "8673101, 21933838, 20631154, 9697692 ,9697692", "complex_components": ["ARL3", "RP2", "UNC119"], "pfam_ids": "PF07986", "domain_descriptions": ["CARP motif", "Tubulin binding cofactor C-like domain", "Cyclase-associated protein CAP/septum formation inhibitor MinC", "C-terminal", "C-CAP/cofactor C-like domain", "Adenylate cyclase-associated CAP", "C-terminal superfamily", "Nucleoside diphosphate kinase-like domain superfamily", "Protein XRP2"], "string_link": "https://string-db.org/network/9606/ENSG00000102218", "synonym": "NM23-H10, NME10, TBCCD2", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rp2", "ortholog_c_elegans": "rpi-2", "ortholog_xenopus": "rp2", "ortholog_zebrafish": "rp2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.7392, "sd_percent_ciliated": 10.1305, "z_score": 0.6942, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0542, "sd_percent_ciliated": 0.0542, "z_score": 0.0542, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2668, "sd_percent_ciliated": -2.2668, "z_score": -2.2668, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RP9", "ensembl_id": "ENSG00000164610", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RP9 pre-mRNA splicing factor [Source:HGNC Symbol,Acc:HGNC:10288]", "omim_id": "607331", "functional_summary": "Mutations in the RP9 gene cause Retinitis Pigmentosa (PMID: 15474994).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "15474994 ,15474994", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000164610", "synonym": "PAP-1", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rp9", "ortholog_xenopus": "rp9", "ortholog_zebrafish": "rp9", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.0754, "sd_percent_ciliated": 6.5904, "z_score": -0.1131, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.93, "sd_percent_ciliated": 2.93, "z_score": 2.93, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2888, "sd_percent_ciliated": 0.2888, "z_score": 0.2888, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPAP2", "ensembl_id": "ENSG00000122484", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RNA polymerase II associated protein 2 [Source:HGNC Symbol,Acc:HGNC:25791]", "omim_id": "611476", "functional_summary": "RPAP2 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF04181", "domain_descriptions": ["Rtr1/RPAP2 domain", "Rtr1/RPAP2 domain superfamily", "Rtr1/RPAP2"], "string_link": "https://string-db.org/network/9606/ENSG00000122484", "synonym": "C1ORF82, FLJ13150, RTR1", "ortholog_mouse": "Rpap2", "ortholog_c_elegans": "rpap-2", "ortholog_xenopus": "rpap2", "ortholog_zebrafish": "rpap2", "ortholog_drosophila": "CG34183", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0745, "sd_percent_ciliated": 0.0745, "z_score": 0.0745, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3816, "sd_percent_ciliated": -1.3816, "z_score": -1.3816, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPAP3", "ensembl_id": "ENSG00000005175", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RNA polymerase II associated protein 3 [Source:HGNC Symbol,Acc:HGNC:26151]", "omim_id": "611477", "functional_summary": "RPAP3 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PIH1D1", "RPAP3", "RUVBL1", "RUVBL2"], "pfam_ids": ["PF13432", "PF13181", "PF00515", "PF13877"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "RNA-polymerase II-associated protein 3-like", "C-terminal domain", "RNA polymerase II-associated protein 3"], "string_link": "https://string-db.org/network/9606/ENSG00000005175", "synonym": "FLJ21908, HSPAGH, SPAG, TAH1", "ortholog_mouse": "Rpap3", "ortholog_c_elegans": "rpap-3", "ortholog_xenopus": "rpap3", "ortholog_zebrafish": "rpap3", "ortholog_drosophila": "spag", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.4, "sd_percent_ciliated": 2.4, "z_score": 2.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.3651, "sd_percent_ciliated": -10.3651, "z_score": -10.3651, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPE65", "ensembl_id": "ENSG00000116745", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "retinoid isomerohydrolase RPE65 [Source:HGNC Symbol,Acc:HGNC:10294]", "omim_id": "180069", "functional_summary": "Mutations in the RPE65 gene cause Retinitis Pigmentosa and Leber Congenital Amaurosis (PMID: 21654732, 9501220, 12960219, 14962443).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "21654732, 9501220, 12960219, 14962443 ,9501220", "complex_components": ["RDH5", "RGR", "RPE65"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000116745", "synonym": "BCO3, LCA2, RD12, RP20", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rpe65", "ortholog_c_elegans": "bcmo-1, bcmo-2", "ortholog_xenopus": "rpe65", "ortholog_zebrafish": "rpe65a, rpe65b, rpe65c", "ortholog_drosophila": "ninaB", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.4504, "sd_percent_ciliated": 7.0583, "z_score": 0.7804, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.217, "sd_percent_ciliated": 0.217, "z_score": 0.217, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2514, "sd_percent_ciliated": -4.2514, "z_score": -4.2514, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPGR", "ensembl_id": "ENSG00000156313", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "retinitis pigmentosa GTPase regulator [Source:HGNC Symbol,Acc:HGNC:10295]", "omim_id": "312610", "functional_summary": "Role in regulation of scent disc formation in photoreceptor cilium, by regulating actin-mediated membrane extension. Absence of RPGR impaired ciliogenesis and cell attachment (21933838). Mutations cause type 3 retinis pigmentosa (8673101). RPGR is suggested to regulate cilia function and facilitate the trafficking of proteins along the photoreceptor cilium. Interacts withciliary proteins, such as RPGRIP1, IQCB1, CEP290 and RPGRIP1L, as well as Rab8a (20631154).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "11104772, 12651948, 19679561, 29203866, 15772089, 10932196, 11875055, 11857109 ,11875055, 11857109; 10932196", "complex_components": ["Arl3", "Pde6d", "RPGR", "INPP5E", "PDE6D", "CALM", "IQCB1", "RPGRIP1L"], "pfam_ids": ["PF00415", "PF13540"], "domain_descriptions": ["Regulator of chromosome condensation", "RCC1", "Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II", "Diverse Signaling and Regulatory Domain-Containing Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000156313", "synonym": "COD1, CORDX1, CRD, RP15, RP3", "ciliopathy": "Cone-Rod Dystrophy; Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rpgr", "ortholog_c_elegans": "glo-4", "ortholog_xenopus": "rpgr", "ortholog_zebrafish": "rpgra, rpgrb", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.5346, "sd_percent_ciliated": 3.8643, "z_score": -0.421, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0444, "sd_percent_ciliated": 0.0444, "z_score": 0.0444, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.6961, "sd_percent_ciliated": -7.6961, "z_score": -7.6961, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPGRIP1", "ensembl_id": "ENSG00000092200", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "RPGR interacting protein 1 [Source:HGNC Symbol,Acc:HGNC:13436]", "omim_id": "605446", "functional_summary": "Known ciliopathy gene CORD13. Mutations are known causes of RP and Leber congenital amaurosis. Potential structural component of the ciliary axoneme, which anchors RPGR within the cilium (11104772, 15772089). Required for disk morphogenesis and RPGR retention in the connecting cilium (12651948). Essential for rod OS formation, probably by regulating the transport of proteins from the IS to the OS (19679561). Required for ciliary targeting of NPHP4 and SDCCAG8, Rab8 localisation in photoreceptors and is involved in rhodopsin ciliary vesicle transport in zebrafish (29203866).", "localization": "basal body, transition zone ,cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "17558407, 17558409, 21685204, 30728336, 30237221, 26150391, 22927466, 11528500, 12920076 ,11528500; 12920076", "complex_components": ["RPGRIP1", "SPATA7"], "pfam_ids": ["PF11618", "PF18111", "PF00168"], "domain_descriptions": ["C2 domain", "RPGR-interacting protein 1", "first C2 domain", "RPGRIP1 family", "C2 domain superfamily", "RPGRIP1", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000092200", "synonym": "CORD13, LCA6, RGI1, RPGRIP", "ciliopathy": "Leber Congenital Amaurosis; Cone-Rod Dystrophy", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rpgrip1", "ortholog_c_elegans": "mks-5", "ortholog_xenopus": "rpgrip1", "ortholog_zebrafish": "rpgrip1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 23.3157, "sd_percent_ciliated": 5.3933, "z_score": -1.7802, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.36, "sd_percent_ciliated": 1.36, "z_score": 1.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7304, "sd_percent_ciliated": -0.7304, "z_score": -0.7304, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPGRIP1L", "ensembl_id": "ENSG00000103494", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "RPGRIP1 like [Source:HGNC Symbol,Acc:HGNC:29168]", "omim_id": "610937", "functional_summary": "Mutations cause Joubert (17558407) and Meckel syndrome (17558409). It functions as cilium-specific scaffold that recruits a Nek4 sig ling network to regulate cilium assembly and stability. Interacts with RPGR (21685204). Loss of RPGRIP1L in human primary cell cultures and mice increases ciliary axonemal length (30728336). Interacts with MKS and NPHP proteins, and could potentially act as part of the gate for cytoplasmic proteins (30237221). Interacts with Psmd2, regulating the activity of the ciliary proteasome at the transition zone to control ciliary sig ling. This proteosomal function could be involved in the control of ciliary length (26150391). Rpgrip1l positively controls dishevelled levels. In the mouse and zebrafish, Rpgrip1l is required for positioning the basal body along the pla r polarity axis, morphants display pla r cell polarity defects (22927466).", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "33199730, 17558409, 19574260 ,19574260; 17558409", "complex_components": ["DVL2", "INVS", "NPHP4", "RPGRIP1L", "RPGR", "TBXA2R"], "pfam_ids": ["PF18111", "PF11618", "PF00168"], "domain_descriptions": ["C2 domain", "RPGR-interacting protein 1", "first C2 domain", "RPGRIP1 family", "C2 domain superfamily", "RPGRIP1", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000103494", "synonym": "CORS3, FTM, JBTS7, KIAA1005, MKS5, NPHP8, PPP1R134", "ciliopathy": "COACH Syndrome; Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rpgrip1l", "ortholog_c_elegans": "mks-5", "ortholog_xenopus": "rpgrip1l", "ortholog_zebrafish": "rpgrip1l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 12.2, "sd_percent_ciliated": 12.2, "z_score": 12.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3687, "sd_percent_ciliated": -0.3687, "z_score": -0.3687, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPL10A", "ensembl_id": "ENSG00000198755", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein L10a [Source:HGNC Symbol,Acc:HGNC:10299]", "omim_id": "615660", "functional_summary": "Rpl10a, Rpl11, and Rps3 were detected as puncta in ependymal multicilia (34848703)", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4848703E7", "complex_components": ["FAU", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL34", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37", "RPL37A", "RPL38", "RPL39", "RPL4", "RPL41", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS10", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS19", "RPS2", "RPS20", "RPS21", "RPS23", "RPS24", "RPS25", "RPS26", "RPS27", "RPS27A", "RPS28", "RPS29", "RPS3", "RPS3A", "RPS4X", "RPS4Y1", "RPS5", "RPS6", "RPS7", "RPS8", "RPS9", "RPSA", "UBA52", "Bop1", "CDK11B", "Cebpz", "Ddx18", "Ddx21", "Ddx24", "Ddx27", "Ddx5", "Ddx56", "DHX15", "Ebna1bp2", "Eef1g", "Fbl", "Fn1", "Ftsj3", "GAS8", "Gnl2", "Gtpbp4", "MND1", "Mrto4", "Mybbp1a", "Ncl", "Nifk", "Nop2", "Nop56", "Nop58", "Pes1", "PIN4", "RBM28", "Rpf2", "Rpl13", "Rpl13a", "Rpl14", "Rpl15", "Rpl18", "Rpl18a", "Rpl19", "Rpl21", "Rpl26", "Rpl3", "Rpl4", "Rpl5", "Rpl6", "Rpl7", "Rpl7a", "Rpl8", "Rplp0", "Rps3", "Rps3a", "Rps4x", "Rps6", "Rps8", "Rrp1", "Rrs1", "RSL1D1", "TPX2", "TUBA1B", "Tubb5", "Wdr12", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1", "DICER1", "EIF6", "MOV10", "RSL24D1"], "pfam_ids": "PF00687", "domain_descriptions": ["Large ribosomal subunit protein uL1", "Large ribosomal subunit protein uL1", "3-layer alpha/beta-sandwich domain", "Large ribosomal subunit protein uL1", "conserved site", "Ribosomal protein uL1-like", "Ribosomal protein uL1/ribosomal biogenesis protein", "Large ribosomal subunit protein eL8/uL1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000198755", "synonym": "CSA-19, L10A, NEDD6, UL1", "ortholog_mouse": "Rpl10a", "ortholog_c_elegans": "rpl-10a", "ortholog_xenopus": "rpl10a", "ortholog_zebrafish": "rpl10a", "ortholog_drosophila": "RpL10Aa, RpL10Ab", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.4112, "sd_percent_ciliated": 9.4334, "z_score": 1.1391 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.3, "sd_percent_ciliated": 11.3, "z_score": 11.3 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.105, "sd_percent_ciliated": -5.105, "z_score": -5.105 } ] }, { "gene": "RPL11", "ensembl_id": "ENSG00000142676", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein L11 [Source:HGNC Symbol,Acc:HGNC:10301]", "omim_id": "604175", "functional_summary": "Rpl10a, Rpl11, and Rps3 were detected as puncta in ependymal multicilia (34848703)", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.4848703E7", "complex_components": ["FAU", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL34", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37", "RPL37A", "RPL38", "RPL39", "RPL4", "RPL41", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS10", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS19", "RPS2", "RPS20", "RPS21", "RPS23", "RPS24", "RPS25", "RPS26", "RPS27", "RPS27A", "RPS28", "RPS29", "RPS3", "RPS3A", "RPS4X", "RPS4Y1", "RPS5", "RPS6", "RPS7", "RPS8", "RPS9", "RPSA", "UBA52", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1", "DICER1", "EIF6", "MOV10", "RSL24D1"], "pfam_ids": ["PF00281", "PF00673"], "domain_descriptions": ["Large ribosomal subunit protein uL5", "Large ribosomal subunit protein uL5", "conserved site", "Large ribosomal subunit protein uL5 domain superfamily", "Large ribosomal subunit protein uL5", "C-terminal", "Large ribosomal subunit protein uL5", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000142676", "synonym": "L11, UL5", "ortholog_mouse": "Rpl11", "ortholog_c_elegans": "rpl-11.1, rpl-11.2", "ortholog_xenopus": "rpl11", "ortholog_zebrafish": "rpl11", "ortholog_drosophila": "RpL11", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.2943, "sd_percent_ciliated": 7.8846, "z_score": -0.9347 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 10.2, "sd_percent_ciliated": 10.2, "z_score": 10.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -17.9829, "sd_percent_ciliated": -17.9829, "z_score": -17.9829 } ] }, { "gene": "RPL19", "ensembl_id": "ENSG00000108298", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein L19 [Source:HGNC Symbol,Acc:HGNC:10312]", "omim_id": "180466", "functional_summary": "Multiple components of translation machinery are present in the cilia of RG, including ribosome components, RPS23 and RPL19, and translation factors, EIF3C, EEF2 and EEF1G.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["FAU", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL34", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37", "RPL37A", "RPL38", "RPL39", "RPL4", "RPL41", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS10", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS19", "RPS2", "RPS20", "RPS21", "RPS23", "RPS24", "RPS25", "RPS26", "RPS27", "RPS27A", "RPS28", "RPS29", "RPS3", "RPS3A", "RPS4X", "RPS4Y1", "RPS5", "RPS6", "RPS7", "RPS8", "RPS9", "RPSA", "UBA52", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1", "DICER1", "EIF6", "MOV10", "RSL24D1"], "pfam_ids": "PF01280", "domain_descriptions": ["Large ribosomal subunit protein eL19 domain", "Large ribosomal subunit protein eL19", "domain 1", "Large ribosomal subunit protein eL19", "conserved site", "Large ribosomal subunit protein eL19", "eukaryotic", "Large ribosomal subunit protein eL19 superfamily", "Large ribosomal subunit protein eL19"], "string_link": "https://string-db.org/network/9606/ENSG00000108298", "synonym": "DKFZP779D216, EL19, FLJ27452, L19, MGC71997", "ortholog_mouse": "Rpl19", "ortholog_c_elegans": "rpl-19", "ortholog_xenopus": "rpl19", "ortholog_zebrafish": "rpl19", "ortholog_drosophila": "RpL19", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 5.0456, "z_score": 1.1111, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.8095, "z_score": 2.1566, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.155 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.66, "z_score": 3.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.66 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.237, "z_score": -10.237, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -10.237 } ] }, { "gene": "RPL23A", "ensembl_id": "ENSG00000198242", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein L23a [Source:HGNC Symbol,Acc:HGNC:10317]", "omim_id": "602326", "functional_summary": "Certain ribosome components, RPL23A, specifically localize to the base of cilia in RG.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["FAU", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL34", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37", "RPL37A", "RPL38", "RPL39", "RPL4", "RPL41", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS10", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS19", "RPS2", "RPS20", "RPS21", "RPS23", "RPS24", "RPS25", "RPS26", "RPS27", "RPS27A", "RPS28", "RPS29", "RPS3", "RPS3A", "RPS4X", "RPS4Y1", "RPS5", "RPS6", "RPS7", "RPS8", "RPS9", "RPSA", "UBA52", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1"], "pfam_ids": ["PF03939", "PF00276"], "domain_descriptions": ["Large ribosomal subunit protein uL23", "conserved site", "Large ribosomal subunit protein uL23", "N-terminal", "Nucleotide-binding alpha-beta plait domain superfamily", "Ribosomal protein uL23/eL15/eS24 core domain superfamily", "Large ribosomal subunit protein uL23-like", "Large ribosomal subunit protein uL23"], "string_link": "https://string-db.org/network/9606/ENSG00000198242", "synonym": "L23A, UL23", "ortholog_mouse": "Rpl23a", "ortholog_c_elegans": "rpl-23A.1, rpl-23A.2", "ortholog_xenopus": "rpl23a", "ortholog_zebrafish": "rpl23a", "ortholog_drosophila": "RpL23A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.067, "sd_percent_ciliated": 5.3584, "z_score": 0.3705 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.95, "sd_percent_ciliated": 3.95, "z_score": 3.95 } ] }, { "gene": "RPS23", "ensembl_id": "ENSG00000186468", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein S23 [Source:HGNC Symbol,Acc:HGNC:10410]", "omim_id": "603683", "functional_summary": "Multiple components of translation machinery are present in the cilia of RG, including ribosome components, RPS23 and RPL19, and translation factors, EIF3C, EEF2 and EEF1G.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2025.05.03.652041", "complex_components": ["FAU", "RPS10", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS19", "RPS2", "RPS20", "RPS21", "RPS23", "RPS24", "RPS25", "RPS26", "RPS27", "RPS27A", "RPS28", "RPS29", "RPS3", "RPS3A", "RPS4X", "RPS4Y1", "RPS5", "RPS6", "RPS7", "RPS8", "RPS9", "RPSA", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL34", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37", "RPL37A", "RPL38", "RPL39", "RPL4", "RPL41", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "UBA52", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1"], "pfam_ids": "PF00164", "domain_descriptions": ["Small ribosomal subunit protein uS12", "eukaryotic/archaeal", "Small ribosomal subunit protein uS12", "Nucleic acid-binding", "OB-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000186468", "synonym": "S23, US12", "ortholog_mouse": "Rps23", "ortholog_c_elegans": "rps-23", "ortholog_xenopus": "rps23", "ortholog_zebrafish": "rps23", "ortholog_drosophila": "RpS23", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.9231, "sd_percent_ciliated": 10.5716, "z_score": -0.1316, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.6121, "sd_percent_ciliated": -7.6121, "z_score": -7.6121, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RPS3", "ensembl_id": "ENSG00000149273", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein S3 [Source:HGNC Symbol,Acc:HGNC:10420]", "omim_id": "600454", "functional_summary": "Rpl10a, Rpl11, and Rps3 were detected as puncta in ependymal multicilia (34848703)", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.4848703E7", "complex_components": ["FAU", "RPS10", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS19", "RPS2", "RPS20", "RPS21", "RPS23", "RPS24", "RPS25", "RPS26", "RPS27", "RPS27A", "RPS28", "RPS29", "RPS3", "RPS3A", "RPS4X", "RPS4Y1", "RPS5", "RPS6", "RPS7", "RPS8", "RPS9", "RPSA", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL34", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37", "RPL37A", "RPL38", "RPL39", "RPL4", "RPL41", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "UBA52"], "pfam_ids": ["PF07650", "PF00189"], "domain_descriptions": ["Small ribosomal subunit protein uS3", "C-terminal", "K Homology domain", "type 2", "Small ribosomal subunit protein uS3", "eukaryotic/archaeal", "K homology domain superfamily", "prokaryotic type", "K homology domain-like", "alpha/beta", "Small ribosomal subunit protein uS3", "conserved site", "Ribosomal protein S3", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000149273", "synonym": "FLJ26283, FLJ27450, MGC87870, S3, US3", "ortholog_mouse": "Rps3", "ortholog_c_elegans": "rps-3", "ortholog_xenopus": "rps3", "ortholog_zebrafish": "rps3", "ortholog_drosophila": "RpS3", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 8.9151, "z_score": 2.3193, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 70.2172, "z_score": 3.9022, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.7131 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 11.1, "z_score": 11.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 11.1 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.6787, "z_score": -6.6787, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.6787 } ] }, { "gene": "RPS6KA1", "ensembl_id": "ENSG00000281877", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal protein S6 kinase A1 [Source:HGNC Symbol,Acc:HGNC:10430]", "omim_id": "601684", "functional_summary": "p90RSK (RPS6KA1-p90) is activated downstream of the MEK1/2鈥揈RK1/2 pathway after PDGFR伪伪 sig ling in the primary cilium, which results in activation of p90RSK at the ciliary base (23264740).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.326474E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281877", "synonym": "HU-1, MAPKAPK1, P90RSK, RSK1", "ortholog_mouse": "Rps6ka1", "ortholog_c_elegans": "rskn-1", "ortholog_xenopus": "rps6ka1", "ortholog_zebrafish": "rps6ka1", "ortholog_drosophila": "S6kII", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.0666, "sd_percent_ciliated": 2.001, "z_score": -0.9623 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 10.5, "sd_percent_ciliated": 10.5, "z_score": 10.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.4039, "sd_percent_ciliated": -2.4039, "z_score": -2.4039 } ] }, { "gene": "RRAD", "ensembl_id": "ENSG00000166592", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RRAD, Ras related glycolysis inhibitor and calcium channel regulator [Source:HGNC Symbol,Acc:HGNC:10446]", "omim_id": "179503", "functional_summary": "RRAD has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00071", "domain_descriptions": ["Small GTPase", "Small GTP-binding domain", "Ras-related small G protein", "RGK family", "P-loop containing nucleoside triphosphate hydrolase", "RGK GTP-binding regulators"], "string_link": "https://string-db.org/network/9606/ENSG00000166592", "synonym": "RAD, REM3", "ortholog_mouse": "Rrad", "ortholog_c_elegans": "Y52B11A.4", "ortholog_zebrafish": "rrad", "ortholog_drosophila": "Rgk3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 59.8494, "sd_percent_ciliated": 7.13, "z_score": 2.6461 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.3773, "sd_percent_ciliated": 1.3773, "z_score": 1.3773 } ] }, { "gene": "RRM1", "ensembl_id": "ENSG00000167325", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribonucleotide reductase catalytic subunit M1 [Source:HGNC Symbol,Acc:HGNC:10451]", "omim_id": "180410", "functional_summary": "RRM1 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["RRM1", "RRM2", "RRM2B", "AHCYL1"], "pfam_ids": ["PF03477", "PF02867", "PF00317"], "domain_descriptions": ["Ribonucleotide reductase large subunit", "C-terminal", "ATP-cone domain", "Ribonucleotide reductase R1 subunit", "N-terminal", "Ribonucleotide reductase", "class I", "alpha subunit", "C-terminal", "Ribonucleotide reductase large subunit", "N-terminal", "Ribonucleoside-diphosphate reductase large subunit"], "string_link": "https://string-db.org/network/9606/ENSG00000167325", "ortholog_mouse": "Rrm1", "ortholog_c_elegans": "rnr-1", "ortholog_xenopus": "rrm1", "ortholog_zebrafish": "rrm1", "ortholog_drosophila": "RnrL", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.863, "sd_percent_ciliated": 0.4496, "z_score": -0.26, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.07, "sd_percent_ciliated": 7.07, "z_score": 7.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -17.1389, "sd_percent_ciliated": -17.1389, "z_score": -17.1389, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RRP7A", "ensembl_id": "ENSG00000189306", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Increased", "description": "ribosomal RNA processing 7 homolog A [Source:HGNC Symbol,Acc:HGNC:24286]", "omim_id": "619449", "functional_summary": "Localizes to centrosomes, cilia and nucleoli. Highly expressed in neural stem cells in developing human forebrain, and a missense mutation is associated with microcephaly. Targeted mutation of Rrp7a leads to defects in neurogenesis and proliferation in a mouse stem cell model and in zebrafish causes reduced brain size, impaired neurogenesis and cell proliferation, and defective ribosomal R processing. Patient-derived fibroblasts display defects in ribosomal R processing, primary cilia resorption, and cell cycle progression (33199730)", "localization": "cilia , flagella", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration", "reference": "25473808, 24568568, 23993197", "complex_components": {}, "pfam_ids": ["PF12923", "PF17799"], "domain_descriptions": ["Nucleotide-binding alpha-beta plait domain superfamily", "Ribosomal RNA-processing protein 7", "C-terminal domain", "Rrp7A", "RNA recognition motif", "RNA-binding domain superfamily", "Ribosomal RNA-processing protein 7", "Rrp7", "RRM-like N-terminal domain", "RNA recognition motif domain"], "string_link": "https://string-db.org/network/9606/ENSG00000189306", "synonym": "CGI-96, RRP7", "ortholog_mouse": "Rrp7a", "ortholog_c_elegans": "ZC434.4", "ortholog_xenopus": "rrp7a", "ortholog_zebrafish": "rrp7a", "ortholog_drosophila": "CG9107", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.96, "sd_percent_ciliated": 3.96, "z_score": 3.96, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RSL1D1", "ensembl_id": "ENSG00000171490", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ribosomal L1 domain containing 1 [Source:HGNC Symbol,Acc:HGNC:24534]", "omim_id": "615874", "functional_summary": "The senescence-regulator RSL1D1 localized at cilia", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["Bop1", "CDK11B", "Cebpz", "Ddx18", "Ddx21", "Ddx24", "Ddx27", "Ddx5", "Ddx56", "DHX15", "Ebna1bp2", "Eef1g", "Fbl", "Fn1", "Ftsj3", "GAS8", "Gnl2", "Gtpbp4", "MND1", "Mrto4", "Mybbp1a", "Ncl", "Nifk", "Nop2", "Nop56", "Nop58", "Pes1", "PIN4", "RBM28", "Rpf2", "RPL10", "RPL10A", "Rpl13", "Rpl13a", "Rpl14", "Rpl15", "Rpl18", "Rpl18a", "Rpl19", "Rpl21", "Rpl26", "Rpl3", "Rpl4", "Rpl5", "Rpl6", "Rpl7", "Rpl7a", "Rpl8", "Rplp0", "Rps3", "Rps3a", "Rps4x", "Rps6", "Rps8", "RPS9", "Rrp1", "Rrs1", "RSL1D1", "TPX2", "TUBA1B", "Tubb5", "Wdr12", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "FBL", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37A", "RPL39", "RPL4", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS2", "RPS23", "RPS24", "RPS29", "RPS3A", "RPS6", "RPS7", "RPS8", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUBA1A", "TUBB1", "TUFM", "U2AF1", "U2AF2", "YBX1", "MDM2", "TP53"], "pfam_ids": "PF00687", "domain_descriptions": ["Large ribosomal subunit protein uL1", "3-layer alpha/beta-sandwich domain", "Ribosomal protein uL1-like", "Ribosomal protein uL1/ribosomal biogenesis protein", "Large ribosomal subunit protein eL8/uL1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000171490", "synonym": "CSIG, DKFZP564M182, L12, PBK1, UTP30", "ortholog_mouse": "Rsl1d1", "ortholog_c_elegans": "F53F4.11", "ortholog_xenopus": "rsl1d1", "ortholog_zebrafish": "rsl1d1", "ortholog_drosophila": "CG13096", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13.8, "sd_percent_ciliated": 13.8, "z_score": 13.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.8828, "sd_percent_ciliated": 0.8828, "z_score": 0.8828, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RSPH1", "ensembl_id": "ENSG00000160188", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head component 1 [Source:HGNC Symbol,Acc:HGNC:12371]", "omim_id": "609314", "functional_summary": "Mutations have been shown to cause PCD (25473808, 24568568). Integral component of the ciliary axoneme expressed during ciliated cell differentiation (24568568). Mainly expressed in tissues with motile cilia or flagella, absence of RSPH1 leads toabnormal axonemal configuration with central- complex defects, suggesting a role for RSPH1 in proper building of central-complexes and radial spokes (23993197).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "19684019, 26073779, 29475374, 23993197 ,23993197; 36873931", "complex_components": {}, "pfam_ids": "PF02493", "domain_descriptions": "MORN repeat", "string_link": "https://string-db.org/network/9606/ENSG00000160188", "synonym": "CILD24, FLJ32753, RSP44, RSPH10A, TSGA2", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rsph1", "ortholog_xenopus": "rsph1", "ortholog_zebrafish": "rsph1", "ortholog_drosophila": "Rsph1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.124, "sd_percent_ciliated": 0.124, "z_score": 0.124, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3414, "sd_percent_ciliated": -1.3414, "z_score": -1.3414, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RSPH10B", "ensembl_id": "ENSG00000155026", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head 10 homolog B [Source:HGNC Symbol,Acc:HGNC:27362]", "functional_summary": "RSPH10B has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02493", "domain_descriptions": "MORN repeat", "string_link": "https://string-db.org/network/9606/ENSG00000155026", "ortholog_mouse": "Rsph10b", "ortholog_xenopus": "rsph10b", "ortholog_zebrafish": "rsph10b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.16, "sd_percent_ciliated": 0.16, "z_score": 0.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RSPH10B2", "ensembl_id": "ENSG00000169402", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head 10 homolog B2 [Source:HGNC Symbol,Acc:HGNC:34385]", "functional_summary": "RSPH10B2 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02493", "domain_descriptions": "MORN repeat", "string_link": "https://string-db.org/network/9606/ENSG00000169402", "ortholog_mouse": "Rsph10b", "ortholog_xenopus": "rsph10b", "ortholog_zebrafish": "rsph10b", "screens": {} }, { "gene": "RSPH3", "ensembl_id": "ENSG00000130363", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head 3 [Source:HGNC Symbol,Acc:HGNC:21054]", "omim_id": "615876", "functional_summary": "Protein ki se A-anchoring protein that scaffolds the cAMP-dependent protein ki se holoenzyme (19684019). Mutations are associated with PCD, with CC/RS defects like abnormal axoneme configuration and absence of RS. Required for proper building of RSs and the CC in humans (26073779). Mutations in RSPH3 in Chlamydomo s reinhardtii lead to paralyzed flagella due to loss of the entire radial spoke structure (29475374).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "32203505, 26073779, 25789548, 32124190, 26073779 ,26073779; 32124190", "complex_components": {}, "pfam_ids": "PF06098", "domain_descriptions": "Radial spoke 3", "string_link": "https://string-db.org/network/9606/ENSG00000130363", "synonym": "DJ111C20.1, RSHL2, RSP3", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rsph3a, Rsph3b", "ortholog_xenopus": "rsph3", "ortholog_zebrafish": "rsph3", "ortholog_drosophila": "Rsph3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.09, "sd_percent_ciliated": 6.09, "z_score": 6.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8113, "sd_percent_ciliated": -0.8113, "z_score": -0.8113, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RSPH4A", "ensembl_id": "ENSG00000111834", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head component 4A [Source:HGNC Symbol,Acc:HGNC:21558]", "omim_id": "612647", "functional_summary": "Component of spoke heads. Plays a central role in the assembly of all the three- types of RS. Contributes to the generation of the pla r beating of motile cilia by building the distal architecture of radial spokes, regulating the motion pattern of the mouse motile cilia. Mutations lead to most severe phenotype of PCD with central complex defects and near absence of radial spokes (26073779, 25789548) Essential for the triplet radial spoke head assembly of the mouse motile cilia (32203505).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "30185526, 30239614, 19200523 ,19200523", "complex_components": {}, "pfam_ids": "PF04712", "domain_descriptions": "Radial spokehead-like protein", "string_link": "https://string-db.org/network/9606/ENSG00000111834", "synonym": "CILD11, DJ412I7.1, FLJ37974, RSHL3, RSPH6B", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rsph4a", "ortholog_xenopus": "rsph6a", "ortholog_zebrafish": "rsph4a", "ortholog_drosophila": "Rsph4a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "RSPH6A", "ensembl_id": "ENSG00000104941", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head 6 homolog A [Source:HGNC Symbol,Acc:HGNC:14241]", "omim_id": "607548", "functional_summary": "RSPH6A is required for sperm flagellar assembly and male fertility in mice. Interacts with RSPH1, RSPH4A, RSPH9 and RSPH10B, where nteraction of RSPH6A and RSPH9 is important to incorporate RSPH9 into the flagella. Absence of RSPH6A leads to immotile spermatozoa in mice (30185526). Expressed exclusively in testicular germ cells during meiosis. Rsph6a is phosphorylated by PKA during sperm capacitation (30239614).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "19200523, 32709945, 30383886", "complex_components": {}, "pfam_ids": "PF04712", "domain_descriptions": "Radial spokehead-like protein", "string_link": "https://string-db.org/network/9606/ENSG00000104941", "synonym": "RSHL1, RSP4, RSP6, RSPH4B", "ortholog_mouse": "Rsph6a", "ortholog_xenopus": "rsph6a", "ortholog_zebrafish": "rsph4a", "ortholog_drosophila": "Rsph4a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0006, "sd_percent_ciliated": 0.0006, "z_score": 0.0006, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.8619, "sd_percent_ciliated": -0.8619, "z_score": -0.8619, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RSPH9", "ensembl_id": "ENSG00000172426", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "radial spoke head component 9 [Source:HGNC Symbol,Acc:HGNC:21057]", "omim_id": "612648", "functional_summary": "Component of the axonemal radial spoke head. Mutations cause PCD with defects of the central microtubular pair, where altered function of the radial spoke heads causes 9+2 cilia motility to resemble the rotary 9+0 cilia movement (19200523). Essential for ciliary structure and motility in mouse ependymal cilia, deletion causes hydrocephalus. Dysfunction of RSPH9 changes the motion pattern of motile cilia. (32709945). Required for RS head assembly and centrail pair mainte nce in mammalian ependimal cilia (30383886).", "localization": "basal body, cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "22939636, 28811500, 30879067, 29967526, 19200523 ,19200523; 36873931", "complex_components": {}, "pfam_ids": "PF04712", "domain_descriptions": ["Radial spokehead-like protein", "Radial spoke head protein 9 homolog"], "string_link": "https://string-db.org/network/9606/ENSG00000172426", "synonym": "C6ORF206, CILD12, FLJ30845, MRPS18AL1", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rsph9", "ortholog_xenopus": "rsph9", "ortholog_zebrafish": "rsph9", "ortholog_drosophila": "Rsph9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.44, "sd_percent_ciliated": 7.44, "z_score": 7.44, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1212, "sd_percent_ciliated": -4.1212, "z_score": -4.1212, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RTN4IP1", "ensembl_id": "ENSG00000130347", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "reticulon 4 interacting protein 1 [Source:HGNC Symbol,Acc:HGNC:18647]", "omim_id": "610502", "functional_summary": "Mutations in the RTN4IP1 gene cause Cone-Rod Dystrophy (PMID: 33315831).", "localization": "Ciliary associated gene, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "33315831 ,33315831", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000130347", "synonym": "NIMP", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Rtn4ip1", "ortholog_c_elegans": "rad-8", "ortholog_xenopus": "rtn4ip1", "ortholog_zebrafish": "rtn4ip1", "ortholog_drosophila": "Rtn4ip1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 24.4069, "sd_percent_ciliated": 4.3575, "z_score": -1.648 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.06, "sd_percent_ciliated": 1.06, "z_score": 1.06 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.8143, "sd_percent_ciliated": -9.8143, "z_score": -9.8143 } ] }, { "gene": "RTTN", "ensembl_id": "ENSG00000176225", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "rotatin [Source:HGNC Symbol,Acc:HGNC:18654]", "omim_id": "610436", "functional_summary": "Regulates early embryonic axial rotation, anteroposterior and dorsoventral patterning in mice and is required for mainte nce of a normal ciliary structure (22939636). Required for assembly of full-length centrioles through its STIL- RTTN interaction, it also serves as an upstream effector of CEP295 (28811500). Centrosomal protein possibly involved in centriolar elongation and ciliogenesis. Mutations cause polymicrogyria (30879067) and missense or splicing variants have been found in patients with microcephaly (29967526).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "29959317, 29113992, 28574207", "complex_components": {}, "pfam_ids": "PF14726", "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "Rotatin", "N-terminal", "Rotatin"], "string_link": "https://string-db.org/network/9606/ENSG00000176225", "synonym": "DKFZP434G145", "ortholog_mouse": "Rttn", "ortholog_xenopus": "rttn", "ortholog_zebrafish": "rttn", "ortholog_drosophila": "ana3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.2295, "sd_percent_ciliated": 2.6816, "z_score": -0.3368 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.31, "sd_percent_ciliated": 7.31, "z_score": 7.31 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1136, "sd_percent_ciliated": -0.1136, "z_score": -0.1136 } ] }, { "gene": "RUNDC3B", "ensembl_id": "ENSG00000105784", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RUN domain containing 3B [Source:HGNC Symbol,Acc:HGNC:30286]", "omim_id": "617295", "functional_summary": "RUNDC3B has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02759", "domain_descriptions": ["RUN domain", "RUN domain superfamily", "RUN domain-containing protein 3B", "RUN domain", "RUN domain-containing protein 3A/B"], "string_link": "https://string-db.org/network/9606/ENSG00000105784", "synonym": "RPIB9, RPIP9", "ortholog_mouse": "Rundc3b", "ortholog_xenopus": "rundc3b", "ortholog_zebrafish": "rundc3b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0084, "sd_percent_ciliated": 0.0084, "z_score": 0.0084, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3197, "sd_percent_ciliated": -4.3197, "z_score": -4.3197, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RUNX1", "ensembl_id": "ENSG00000159216", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RUNX family transcription factor 1 [Source:HGNC Symbol,Acc:HGNC:10471]", "omim_id": "151385", "functional_summary": "Expression level of hematopoietic stem and progenitor cell marker, runx1, decreased in cilia-impaired embryos(31015398).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "3.1015398E7", "complex_components": ["CBFB", "RUNX1", "COPRS", "PRMT5", "EP300", "HIPK2"], "pfam_ids": ["PF08504", "PF00853"], "domain_descriptions": ["Acute myeloid leukemia 1 protein (AML1)/Runt", "p53-like transcription factor", "DNA-binding domain superfamily", "p53/RUNT-type transcription factor", "DNA-binding domain superfamily", "Runt domain", "Runx", "C-terminal domain", "Runt-related transcription factor RUNX", "Runx", "central domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000159216", "synonym": "AML1, AMLCR1, CBFA2, PEBP2A2", "ortholog_mouse": "Runx1", "ortholog_c_elegans": "rnt-1", "ortholog_xenopus": "runx1", "ortholog_zebrafish": "runx1", "ortholog_drosophila": "lz, RunxA, RunxB", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.8223, "sd_percent_ciliated": 2.6519, "z_score": 0.462 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.08, "sd_percent_ciliated": 6.08, "z_score": 6.08 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.8548, "sd_percent_ciliated": -5.8548, "z_score": -5.8548 } ] }, { "gene": "RUNX2", "ensembl_id": "ENSG00000124813", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "RUNX family transcription factor 2 [Source:HGNC Symbol,Acc:HGNC:10472]", "omim_id": "600211", "functional_summary": "Runx2-II, an essential transcriptio l factor in controlling osteoblast-mediated bone formation, is downstream of Pkd1 ( 16905538).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), ECM & connective tissue, Transcription regulation", "reference": "1.6905538E7", "complex_components": ["HIVEP3", "RUNX2", "WWP1", "CTBP2", "EP300", "AR"], "pfam_ids": ["PF00853", "PF08504"], "domain_descriptions": ["Acute myeloid leukemia 1 protein (AML1)/Runt", "p53-like transcription factor", "DNA-binding domain superfamily", "p53/RUNT-type transcription factor", "DNA-binding domain superfamily", "Runt domain", "Runx", "C-terminal domain", "Runt-related transcription factor RUNX", "Runx", "central domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000124813", "synonym": "AML3, CBFA1, CCD, CCD1, PEBP2A1, PEBP2AA1", "ortholog_mouse": "Runx2", "ortholog_c_elegans": "rnt-1", "ortholog_xenopus": "runx2", "ortholog_zebrafish": "runx2a, runx2b", "ortholog_drosophila": "run, RunxA, RunxB", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.4038, "sd_percent_ciliated": 0.792, "z_score": 0.2901 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 13.5, "sd_percent_ciliated": 13.5, "z_score": 13.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.0643, "sd_percent_ciliated": -4.0643, "z_score": -4.0643 } ] }, { "gene": "RUVBL1", "ensembl_id": "ENSG00000175792", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "RuvB like AAA ATPase 1 [Source:HGNC Symbol,Acc:HGNC:10474]", "omim_id": "603449", "functional_summary": "Role in the pre-assembly and targeting of ciliary protein complexes. Ruvbl1 may be a major organiser of dynein arm complex assembly (29959317). Essential for cilia motility in both zebrafish and mouse, cooperating with Ruvbl2 through the assembly of ciliary ODAs and IDAs, requires Ruvbl2 for stability. Essential for the stabilization of axonemal dynein intermediate chain 1 (D I1) and D I2 in mouse,and facilitates dynein arm assembly in cytosolic foci enriched with R2TP-like complexes (29113992). Depletion of HsRuvBL1 in RPE1 cells leads to the loss of primary cilia (28574207).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Protein processing & maturation, Cell migration & adhesion", "reference": "29113992, 23858445 ,10.1186/2194-7791-2-S1-A29", "complex_components": ["ACTL6A", "ACTR5", "ACTR8", "INO80", "INO80B", "INO80C", "INO80D", "INO80E", "MCRS1", "NFRKB", "RUVBL1", "RUVBL2", "TCF3", "ACTR6", "EAF2", "H2AZ1", "SRCAP", "VPS72", "YEATS4", "ZNHIT1", "KAT5", "TRRAP", "BRD8", "DMAP1", "EP400", "EPC1", "ING3", "MEAF6", "MORF4L1", "MORF4L2", "MRGBP", "CUL1", "PFDN2", "POLR2E", "SKP1", "SKP2", "STAP1", "URI1", "EPC2", "ACTB", "MYC", "ASH2L", "BAP18", "CHD8", "E2F6", "HCFC1", "HSPA4", "KANSL1", "KAT8", "KMT2A", "LAS1L", "MGAM", "PELP1", "PHF20", "PRPF31", "RBBP5", "RNF2", "SENP3", "TAF1", "TAF4", "TAF6", "TAF7", "TAF9", "TEX10", "WDR5", "ANP32E", "H2BC4", "H3C1", "H4C1", "IPO9", "PRKDC", "XRCC5", "XRCC6", "DKC1", "TERT", "ACTBL2", "ALYREF", "ARID1A", "ARID1B", "ARID2", "BCAS2", "CHD4", "CHERP", "CPSF1", "CPSF6", "CPSF7", "DDX17", "DDX20", "DDX23", "DDX39A", "DDX39B", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "FUS", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPA1", "HNRNPA2B1", "HNRNPC", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPL", "HNRNPM", "HNRNPR", "HNRNPU", "HTATSF1", "KHSRP", "LSM4", "LUC7L2", "LUC7L3", "MTREX", "NCBP1", "NCBP2", "NUDT21", "PBRM1", "PCBP1", "PCBP2", "PHF5A", "PPIH", "PRPF19", "PRPF3", "PRPF4", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM42", "RBM7", "RBMXL2", "SART1", "SART3", "SCAF4", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B6", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP200", "SNRNP40", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SREK1", "SRRM2", "SRRT", "SRSF1", "SRSF11", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF8", "STRAP", "SYNCRIP", "U2AF1", "U2AF2", "U2SURP", "USP39", "YBX1", "ZCCHC8", "PIH1D1", "RPAP3", "TUBB4A", "CREB3L2", "H2AC20", "H2AZ2", "H2BC18", "MBTD1", "TUBB"], "pfam_ids": ["PF06068", "PF17856"], "domain_descriptions": ["TIP49", "P-loop domain", "Nucleic acid-binding", "OB-fold", "RuvB-like", "P-loop containing nucleoside triphosphate hydrolase", "RuvBL1/2", "DNA/RNA binding domain", "AAA+ ATPase domain", "RuvB-like", "AAA-lid domain"], "string_link": "https://string-db.org/network/9606/ENSG00000175792", "synonym": "ECP54, INO80H, NMP238, PONTIN52, RVB1, TIH1, TIP49, TIP49A", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ruvbl1", "ortholog_c_elegans": "ruvb-1", "ortholog_xenopus": "ruvbl1", "ortholog_zebrafish": "ruvbl1", "ortholog_drosophila": "pont", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.6959, "sd_percent_ciliated": 0.5538, "z_score": 0.4467 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.59, "sd_percent_ciliated": 9.59, "z_score": 9.59 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -10.8203, "sd_percent_ciliated": -10.8203, "z_score": -10.8203 } ] }, { "gene": "RUVBL2", "ensembl_id": "ENSG00000183207", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Reduced", "description": "RuvB like AAA ATPase 2 [Source:HGNC Symbol,Acc:HGNC:10475]", "omim_id": "604788", "functional_summary": "Essential for cilia motility in both zebrafish and mouse, through the assembly of ciliary ODAs and IDAs and cooperating with Ruvbl1. Interacts with Hsp90 to regulate the stability of both D I1 and D I2. Requires Ruvbl1 for stability (29113992). Involved in epigenetic and transcriptio l regulation of cilia motility genes, interacts with LRRC6 in a complex involved in dynein arm formation, essential for cilia motility in zebrafish. Candidate gene for PCD (23858445).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Metabolism, Protein processing & maturation, Cell migration & adhesion", "reference": "29395072, 32553112 ,10.1186/2194-7791-2-S1-A29", "complex_components": ["ACTL6A", "ACTR5", "ACTR8", "INO80", "INO80B", "INO80C", "INO80D", "INO80E", "MCRS1", "NFRKB", "RUVBL1", "RUVBL2", "TCF3", "ACTR6", "EAF2", "H2AZ1", "SRCAP", "VPS72", "YEATS4", "ZNHIT1", "KAT5", "TRRAP", "BRD8", "DMAP1", "EP400", "EPC1", "ING3", "MEAF6", "MORF4L1", "MORF4L2", "MRGBP", "CUL1", "PFDN2", "POLR2E", "SKP1", "SKP2", "STAP1", "URI1", "EPC2", "ACTB", "MYC", "ANP32E", "H2BC4", "H3C1", "H4C1", "IPO9", "PRKDC", "XRCC5", "XRCC6", "CFAP298", "DNAAF11", "DNAAF4", "HSPA8", "IQUB", "ZMYND10", "DKC1", "TERT", "ACTBL2", "ALYREF", "ARID1A", "ARID1B", "ARID2", "BCAS2", "CHD4", "CHD8", "CHERP", "CPSF1", "CPSF6", "CPSF7", "DDX17", "DDX20", "DDX23", "DDX39A", "DDX39B", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "FUS", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPA1", "HNRNPA2B1", "HNRNPC", "HNRNPD", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPL", "HNRNPM", "HNRNPR", "HNRNPU", "HTATSF1", "KHSRP", "LSM4", "LUC7L2", "LUC7L3", "MTREX", "NCBP1", "NCBP2", "NUDT21", "PBRM1", "PCBP1", "PCBP2", "PHF5A", "PPIH", "PRPF19", "PRPF3", "PRPF31", "PRPF4", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM42", "RBM7", "RBMXL2", "SART1", "SART3", "SCAF4", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B6", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SNRNP200", "SNRNP40", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SREK1", "SRRM2", "SRRT", "SRSF1", "SRSF11", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF8", "STRAP", "SYNCRIP", "U2AF1", "U2AF2", "U2SURP", "USP39", "YBX1", "ZCCHC8", "PIH1D1", "RPAP3", "CREB3L2", "H2AC20", "H2AZ2", "H2BC18", "MBTD1", "TUBB"], "pfam_ids": ["PF06068", "PF17856"], "domain_descriptions": ["AAA+ ATPase domain", "TIP49", "P-loop domain", "RuvB-like", "P-loop containing nucleoside triphosphate hydrolase", "RuvBL1/2", "DNA/RNA binding domain", "RuvB-like", "AAA-lid domain", "Nucleic acid-binding", "OB-fold"], "string_link": "https://string-db.org/network/9606/ENSG00000183207", "synonym": "ECP51, INO80J, REPTIN52, RVB2, TIH2, TIP48, TIP49B", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ruvbl2", "ortholog_c_elegans": "ruvb-2", "ortholog_xenopus": "ruvbl2", "ortholog_zebrafish": "ruvbl2", "ortholog_drosophila": "rept", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.8355, "sd_percent_ciliated": 1.8846, "z_score": -0.2634, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.9, "sd_percent_ciliated": 13.9, "z_score": 13.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.5362, "sd_percent_ciliated": -9.5362, "z_score": -9.5362, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "RXFP2", "ensembl_id": "ENSG00000133105", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "relaxin family peptide receptor 2 [Source:HGNC Symbol,Acc:HGNC:17318]", "omim_id": "606655", "functional_summary": "Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8100419E7", "complex_components": {}, "pfam_ids": ["PF00001", "PF00057", "PF13855"], "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Leucine-rich repeat", "Low-density lipoprotein (LDL) receptor class A repeat", "Leucine-rich repeat", "typical subtype", "Relaxin receptor", "GPCR", "rhodopsin-like", "7TM", "Low-density lipoprotein (LDL) receptor class A", "conserved site", "Leucine-rich repeat domain superfamily", "LDL receptor-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000133105", "synonym": "GPR106, GREAT, INSL3R, LGR8, RXFPR2", "ortholog_mouse": "Rxfp2", "ortholog_xenopus": "rxfp2", "ortholog_zebrafish": "rxfp2a, rxfp2b", "ortholog_drosophila": "Lgr3, Lgr4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.107, "sd_percent_ciliated": 0.107, "z_score": 0.107, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.972, "sd_percent_ciliated": -4.972, "z_score": -4.972, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "S100A4", "ensembl_id": "ENSG00000196154", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "S100 calcium binding protein A4 [Source:HGNC Symbol,Acc:HGNC:10494]", "omim_id": "114210", "functional_summary": "MST1/2 has a noncanonical function: regulation of microtubule stability/dy mics. Loss of MST1/2 or its target(s) NDR1/2 destabilizes kinetochore-microtubule attachment during mitosis (20171103 , 19327996). MST1/2 binds and phosphorylates AURKA, leading to dissociation of the AURKA/HDAC6 cilia-disassembly complex, and MST1/2-SAV1 associates with the NPHP transition-zone complex, promoting ciliary localization of multiple ciliary cargoes . MST1 is activated during ciliogenesis and localizes to the basal body of cilia. (25367221).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "20171103 , 19327996 , 25367221", "complex_components": {}, "pfam_ids": "PF01023", "domain_descriptions": ["S100/Calcium binding protein 7/8-like", "conserved site", "EF-hand domain", "EF-hand domain pair", "S100/CaBP-9k-type", "calcium binding", "subdomain", "EF-Hand 1", "calcium-binding site", "S-100"], "string_link": "https://string-db.org/network/9606/ENSG00000196154", "synonym": "18A2, 42A, CAPL, FSP1, MTS1, P9KA, PEL98", "ortholog_mouse": "S100a4", "ortholog_zebrafish": "icn, icn2, s100t", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.0408, "sd_percent_ciliated": 8.027, "z_score": -0.602 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.544, "sd_percent_ciliated": 0.544, "z_score": 0.544 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -13.7796, "sd_percent_ciliated": -13.7796, "z_score": -13.7796 } ] }, { "gene": "S100A5", "ensembl_id": "ENSG00000196420", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "S100 calcium binding protein A5 [Source:HGNC Symbol,Acc:HGNC:10495]", "omim_id": "176991", "functional_summary": "ANXA1, ANXA2, ANXA5, and S100A5 localized to the olfactory cilia membrane.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.4748648E7", "complex_components": {}, "pfam_ids": "PF01023", "domain_descriptions": ["S100/Calcium binding protein 7/8-like", "conserved site", "EF-hand domain", "EF-hand domain pair", "S100/CaBP-9k-type", "calcium binding", "subdomain", "EF-Hand 1", "calcium-binding site", "S-100"], "string_link": "https://string-db.org/network/9606/ENSG00000196420", "synonym": "S100D", "ortholog_mouse": "S100a5", "ortholog_zebrafish": "icn, icn2, s100t", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.0116, "sd_percent_ciliated": 9.3892, "z_score": -0.1209 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.409, "sd_percent_ciliated": 0.409, "z_score": 0.409 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.6166, "sd_percent_ciliated": -4.6166, "z_score": -4.6166 } ] }, { "gene": "S100B", "ensembl_id": "ENSG00000160307", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "S100 calcium binding protein B [Source:HGNC Symbol,Acc:HGNC:10500]", "functional_summary": "S100B has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF01023", "PF00036"], "domain_descriptions": ["S100/Calcium binding protein 7/8-like", "conserved site", "EF-hand domain", "EF-hand domain pair", "S100/CaBP-9k-type", "calcium binding", "subdomain", "EF-Hand 1", "calcium-binding site", "Protein S100-B"], "string_link": "https://string-db.org/network/9606/ENSG00000160307", "synonym": "S100BETA", "ortholog_mouse": "S100b", "ortholog_xenopus": "LOC100494223", "ortholog_zebrafish": "s100b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.0267, "sd_percent_ciliated": 6.0347, "z_score": 0.0021, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.786, "sd_percent_ciliated": 0.786, "z_score": 0.786, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.9205, "sd_percent_ciliated": -6.9205, "z_score": -6.9205, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SAG", "ensembl_id": "ENSG00000281857", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "S-antigen visual arrestin [Source:HGNC Symbol,Acc:HGNC:10521]", "omim_id": "181031", "functional_summary": "Mutations in the SAG gene cause Retinitis Pigmentosa (PMID: 9565049).", "localization": "Ciliary associated gene, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "9565049.0", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281857", "synonym": "ARRESTIN, RP47", "ortholog_mouse": "Sag", "ortholog_c_elegans": "arr-1", "ortholog_xenopus": "sag", "ortholog_zebrafish": "saga, sagb", "ortholog_drosophila": "krz", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.7648, "sd_percent_ciliated": 9.7607, "z_score": 0.2127 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.44, "sd_percent_ciliated": 2.44, "z_score": 2.44 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.1205, "sd_percent_ciliated": -1.1205, "z_score": -1.1205 } ] }, { "gene": "SALL1", "ensembl_id": "ENSG00000103449", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "spalt like transcription factor 1 [Source:HGNC Symbol,Acc:HGNC:10524]", "omim_id": "602218", "functional_summary": "Zinc-finger transcription factor that mediates transcriptio l repression via its interaction with the nucleosome- remodeling deacetylase (NuRD) complex. Truncated SALL1 interacts with or sequester factors related to cilia function, including the negative regulators of ciliogenesis CCP110 and CEP97. SALL1 mutations can disrupt cilia formation and function (29395072). Truncated SALL1 increases the ubiquitin proteasome- mediated degradation of LUZP1, contributing to Townes-Brocks Syndrome (32553112).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development, Transcription regulation", "reference": "22349705, 15665853, 27911707, 26422590, 29395072", "complex_components": {}, "pfam_ids": ["PF12874", "PF00096"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "Sal C2H2-type zinc-finger"], "string_link": "https://string-db.org/network/9606/ENSG00000103449", "synonym": "HSAL1, TBS, ZNF794", "ortholog_mouse": "Sall1", "ortholog_c_elegans": "sem-4", "ortholog_xenopus": "sall1", "ortholog_zebrafish": "sall1a, sall1b", "ortholog_drosophila": "salr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.2598, "sd_percent_ciliated": 2.1569, "z_score": 0.0304 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.133, "sd_percent_ciliated": 0.133, "z_score": 0.133 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9852, "sd_percent_ciliated": -0.9852, "z_score": -0.9852 } ] }, { "gene": "SARM1", "ensembl_id": "ENSG00000004139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sterile alpha and TIR motif containing 1 [Source:HGNC Symbol;Acc:HGNC:17074]", "omim_id": "607732", "functional_summary": "Sarm1 inhibition restores cilia in cells with FCD-associated mutations, raising the prospect of a potential therapeutic strategy.", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://elischolar.library.yale.edu/gsas_dissertations/1194/", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000004139", "synonym": "KIAA0524; SAMD2; SARM", "ortholog_mouse": "Sarm1", "ortholog_c_elegans": "tir-1", "ortholog_xenopus": "sarm1", "ortholog_zebrafish": "sarm1", "ortholog_drosophila": "Sarm", "screens": [] }, { "gene": "SASS6", "ensembl_id": "ENSG00000156876", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Increased", "description": "SAS-6 centriolar assembly protein [Source:HGNC Symbol,Acc:HGNC:25403]", "omim_id": "609321", "functional_summary": "Required for daughter centriole formation and primary cilia assembly in mammalian cells. Recruited to centrioles by STIL (22349705). Interacts with SAS-5 and both are mutually dependent for their centriolar distribution (15665853). Cooperates with PLK4 and STIL to initiate centriole duplication (27911707). Depletion has been shown to reduce the microtubule numbers in Chlamydomo s and Drosophila centrioles, suggesting that SASS6 has a direct role in the regulation of centriolar microtubule formation (26422590).", "localization": "basal body, cilia, flagella, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "33200789, 25673876 ,30013109", "complex_components": {}, "pfam_ids": ["PF18594", "PF16531"], "domain_descriptions": ["Spindle assembly abnormal protein 6", "N-terminal", "SAS-6", "N-terminal domain superfamily", "SAS-6 coiled-coil domain"], "string_link": "https://string-db.org/network/9606/ENSG00000156876", "synonym": "DKFZP761A078, FLJ22097, SAS-6, SAS6", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sass6", "ortholog_xenopus": "sass6, sass6l", "ortholog_zebrafish": "sass6", "ortholog_drosophila": "Sas-6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13.1, "sd_percent_ciliated": 13.1, "z_score": 13.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9109, "sd_percent_ciliated": -4.9109, "z_score": -4.9109, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SATB2", "ensembl_id": "ENSG00000119042", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SATB homeobox 2 [Source:HGNC Symbol,Acc:HGNC:21637]", "functional_summary": "SATB2 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, ECM & connective tissue, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000119042", "synonym": "FLJ21474, KIAA1034", "ortholog_mouse": "Satb2", "ortholog_c_elegans": "dve-1", "ortholog_xenopus": "satb2", "ortholog_zebrafish": "satb2", "ortholog_drosophila": "dve", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.2591, "sd_percent_ciliated": 4.3855, "z_score": -1.0601, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.19, "sd_percent_ciliated": 1.19, "z_score": 1.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2835, "sd_percent_ciliated": -1.2835, "z_score": -1.2835, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SAV1", "ensembl_id": "ENSG00000151748", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "salvador family WW domain containing protein 1 [Source:HGNC Symbol,Acc:HGNC:17795]", "omim_id": "607203", "functional_summary": "MST1/2-SAV1 regulates ciliogenesis by associating with the NPHP transition-zone complex and promoting ciliary localization of multiple ciliary cargoes(25367221).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cardiac & muscle development", "reference": "2.5367221E7", "complex_components": ["SAV1", "STK4", "STK3", "NEK2", "LATS1", "PCBP2", "PCBP1"], "pfam_ids": "PF00397", "domain_descriptions": ["WW domain", "SARAH domain", "Scaffold protein salvador", "WW domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000151748", "synonym": "SALVADOR, WW45, WWP4", "ortholog_mouse": "Sav1", "ortholog_c_elegans": "sav-1", "ortholog_xenopus": "sav1", "ortholog_zebrafish": "sav1", "ortholog_drosophila": "sav", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.28, "sd_percent_ciliated": 4.28, "z_score": 4.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1579, "sd_percent_ciliated": -0.1579, "z_score": -0.1579, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SAXO1", "ensembl_id": "ENSG00000155875", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Unknown", "description": "stabilizer of axonemal 1 [Source:HGNC Symbol,Acc:HGNC:28566]", "omim_id": "616292", "functional_summary": "FAM154A. A microtubule- stabilizing protein specific to cilia and related structures. Regulates cilium axonemal length and promotes microtubule assembly in Hela , RPE1 cells and Trypanosome Brucei (33200789). It binds specifically to centriole and cilium and is responsible for their targeting and stabilisation. SAXO1 is also reported to be present across the length of human sperm flagellum where it colocalizes with 伪-tubulin, where it could play a role in its biogenesis, stability and length (25673876)", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "30723319, 28794130", "complex_components": {}, "pfam_ids": "PF05217", "domain_descriptions": "Stabilizer of axonemal 1/2", "string_link": "https://string-db.org/network/9606/ENSG00000155875", "synonym": "C9ORF138, FAM154A, MGC35182", "ortholog_mouse": "Saxo1", "ortholog_c_elegans": "T08G11.3", "ortholog_drosophila": "CG7131", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.188, "sd_percent_ciliated": 0.188, "z_score": 0.188, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SAXO4", "ensembl_id": "ENSG00000162148", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "stabilizer of axonemal 4 [Source:HGNC Symbol,Acc:HGNC:28869]", "omim_id": "619047", "functional_summary": "IIIG9 (PPP1R32) is a protein restricted to adult ependymal cells located in cilia (34535732).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.4535732E7", "complex_components": {}, "pfam_ids": "PF15691", "domain_descriptions": "Stabilizer of axonemal 4", "string_link": "https://string-db.org/network/9606/ENSG00000162148", "synonym": "C11ORF66, FLJ32771, IIIG9, PPP1R32", "ortholog_mouse": "Saxo4", "ortholog_xenopus": "saxo4", "ortholog_zebrafish": "saxo4", "screens": {} }, { "gene": "SAXO5", "ensembl_id": "ENSG00000198723", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "stabilizer of axonemal 5 [Source:HGNC Symbol,Acc:HGNC:24745]", "functional_summary": "TEX45 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15373", "domain_descriptions": "Stabilizer of axonemal 5", "string_link": "https://string-db.org/network/9606/ENSG00000198723", "synonym": "C19ORF45, FLJ35784, TEX45", "ortholog_mouse": "Saxo5", "screens": {} }, { "gene": "SC5D", "ensembl_id": "ENSG00000109929", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "sterol-C5-desaturase [Source:HGNC Symbol,Acc:HGNC:10547]", "omim_id": "602286", "functional_summary": "Loss of Sc5d results in mandibular hypoplasia through defective primary cilia-mediated hedgehog and WNT/β-catenin sig ling pathways ( 38086515).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8086515E7", "complex_components": {}, "pfam_ids": "PF04116", "domain_descriptions": ["Fatty acid hydroxylase", "Sterol Desaturase and Related Enzymes"], "string_link": "https://string-db.org/network/9606/ENSG00000109929", "synonym": "SC5DL", "ortholog_mouse": "Sc5d", "ortholog_xenopus": "sc5d", "ortholog_zebrafish": "sc5d", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.083, "sd_percent_ciliated": 0.083, "z_score": 0.083, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SCAMP2", "ensembl_id": "ENSG00000140497", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "secretory carrier membrane protein 2 [Source:HGNC Symbol,Acc:HGNC:10564]", "omim_id": "606912", "functional_summary": "SCAMP2 has localized in flagella.", "localization": "flagella, Endosome, Nucleus", "reference": "https://www.proteinatlas.org/", "complex_components": ["SCAMP1", "SCAMP2", "SCAMP3"], "pfam_ids": "PF04144", "domain_descriptions": "SCAMP", "string_link": "https://string-db.org/network/9606/ENSG00000140497", "ortholog_mouse": "Scamp2", "ortholog_c_elegans": "scm-1", "ortholog_zebrafish": "scamp2, scamp2l", "ortholog_drosophila": "Scamp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.865, "sd_percent_ciliated": 10.0904, "z_score": 0.8306 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.12, "sd_percent_ciliated": 1.12, "z_score": 1.12 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.6133, "sd_percent_ciliated": -2.6133, "z_score": -2.6133 } ] }, { "gene": "SCAPER", "ensembl_id": "ENSG00000140386", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "S-phase cyclin A associated protein in the ER [Source:HGNC Symbol,Acc:HGNC:13081]", "omim_id": "611611", "functional_summary": "Varians have been associated with intellectual disability and autosomal recessive RP. Mutations affect cilia length, suggesting a rol for SCAPER in restricting cilia elongation or enhancing cilia resorption (30723319). Although it is ubiquitously expressed in human tissues, deleterious mutations appear to affect only reti and brain. In the reti , SCAPER appears to be important for photoreceptor function and/or mainte nce rather than for development (28794130).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cilia length regulation", "reference": "23348840, 24285566, 30131441", "complex_components": {}, "pfam_ids": ["PF12874", "PF16501"], "domain_descriptions": ["Matrin/U1-C-like", "C2H2-type zinc finger", "Zinc finger C2H2-type", "S phase cyclin A-associated protein in the endoplasmic reticulum", "N-terminal", "Zinc finger C2H2 superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000140386", "synonym": "ZFP291, ZNF291", "ortholog_mouse": "Scaper", "ortholog_c_elegans": "scpr-1", "ortholog_xenopus": "scaper", "ortholog_zebrafish": "scaper", "ortholog_drosophila": "ssp3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.04, "sd_percent_ciliated": 1.04, "z_score": 1.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9459, "sd_percent_ciliated": -0.9459, "z_score": -0.9459, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SCG5", "ensembl_id": "ENSG00000281931", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "secretogranin V [Source:HGNC Symbol,Acc:HGNC:10816]", "omim_id": "173120", "functional_summary": "SCG5 one of the Foxj1-induced genes (FIGs), direct and indirect targets of Foxj1, are localized to cilia in the zebrafish embryo(25139857).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "2.5139857E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281931", "synonym": "7B2, SGNE1, SGV", "ortholog_mouse": "Scg5", "ortholog_c_elegans": "sbt-1", "ortholog_xenopus": "scg5", "ortholog_zebrafish": "scg5", "ortholog_drosophila": "7B2", "screens": {} }, { "gene": "SCGB1A1", "ensembl_id": "ENSG00000149021", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "secretoglobin family 1A member 1 [Source:HGNC Symbol,Acc:HGNC:12523]", "omim_id": "192020", "functional_summary": "Deletion of Kif3a by Scgb1a1-Cre inhibits ciliary function and inhibits mucociliary clearance(27794000).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "2.7794E7", "complex_components": {}, "pfam_ids": "PF01099", "domain_descriptions": ["Uteroglobin", "Secretoglobin", "Secretoglobin superfamily", "Secretoglobin family 1C-like"], "string_link": "https://string-db.org/network/9606/ENSG00000149021", "synonym": "CC10, CC16, CCSP, UGB", "ortholog_mouse": "Scgb1a1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.8007, "sd_percent_ciliated": 10.0302, "z_score": -0.1464, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.12, "sd_percent_ciliated": 1.12, "z_score": 1.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0947, "sd_percent_ciliated": -1.0947, "z_score": -1.0947, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SCLT1", "ensembl_id": "ENSG00000151466", "overexpression_effects": "Not Reported", "lof_effects": "No cilia", "percent_ciliated_cells_effects": "Decreased", "description": "sodium channel and clathrin linker 1 [Source:HGNC Symbol,Acc:HGNC:26406]", "omim_id": "611399", "functional_summary": "Recruited to centrioles via CEP83. Subsequently, it recruits FBF1 and CEP164. Depletion of SCLT1 in RPE1 cells disruptes CEP164 localisation and blockes cilia formation (23348840). Variants have been identified in patients with a severe ciliopathy phenotype. Candidate gene of autosomal recessive Oro鈥怓acio鈥怐igital (OFD) syndrome (24285566). Recruits LRRC45 to the distal appendages of mother centriole (30131441).", "localization": "basal body, transition zone, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "20835237, 24722439, 22190896, 22825473, 32253632, 32055034, 30425282 ,32253632, 32055034; 30425282; 25613900; 29789620", "complex_components": ["C2CD3", "CBY1", "CCP110", "CEP162", "CEP164", "CEP290", "CEP83", "CEP89", "CEP97", "FBF1", "ODF2", "SCLT1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000151466", "synonym": "FLJ30655, HCAP-1A", "ciliopathy": "Bardet–Biedl Syndrome; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sclt1", "ortholog_xenopus": "sclt1", "ortholog_zebrafish": "sclt1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 36.8, "sd_percent_ciliated": 36.8, "z_score": 36.8, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9643, "sd_percent_ciliated": -2.9643, "z_score": -2.9643, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SCN10A", "ensembl_id": "ENSG00000185313", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sodium voltage-gated channel alpha subunit 10 [Source:HGNC Symbol,Acc:HGNC:10582]", "omim_id": "604427", "functional_summary": "SCN10A has localized in basal body,flagella.", "localization": "basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF24609", "PF06512", "PF00520"], "domain_descriptions": ["Voltage gated sodium channel", "alpha subunit", "Ion transport domain", "Sodium ion transport-associated domain", "Voltage-dependent channel domain superfamily", "Voltage-gated cation channel calcium and sodium", "Voltage-gated sodium channel alpha subunit", "inactivation gate"], "string_link": "https://string-db.org/network/9606/ENSG00000185313", "synonym": "HPN3, NAV1.8, PN3, SNS", "ortholog_mouse": "Scn10a", "ortholog_zebrafish": "scn5lab", "ortholog_drosophila": "para", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.8708, "sd_percent_ciliated": 5.4487, "z_score": 0.3467, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.34, "sd_percent_ciliated": 5.34, "z_score": 5.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6621, "sd_percent_ciliated": -2.6621, "z_score": -2.6621, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SCNM1", "ensembl_id": "ENSG00000163156", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "sodium channel modifier 1 [Source:HGNC Symbol,Acc:HGNC:23136]", "omim_id": "608095", "functional_summary": "Primary cilia length and Hh sig ling are regulated by the minor spliceosome through SCNM1 activity ( 36084634).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cilia length regulation", "reference": "3.6084634E7", "complex_components": {}, "pfam_ids": ["PF15803", "PF15805"], "domain_descriptions": ["Sodium channel modifier 1", "zinc-finger", "Sodium channel modifier 1", "acidic C-terminal domain", "Sodium channel modifier 1"], "string_link": "https://string-db.org/network/9606/ENSG00000163156", "synonym": "MGC3180", "ortholog_mouse": "Scnm1", "ortholog_xenopus": "scnm1", "ortholog_zebrafish": "scnm1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.1061, "sd_percent_ciliated": 6.9064, "z_score": -0.9575 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.27, "sd_percent_ciliated": 1.27, "z_score": 1.27 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4115, "sd_percent_ciliated": 1.4115, "z_score": 1.4115 } ] }, { "gene": "SCNN1G", "ensembl_id": "ENSG00000166828", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sodium channel epithelial 1 subunit gamma [Source:HGNC Symbol,Acc:HGNC:10602]", "omim_id": "600761", "functional_summary": "SCNN1G has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["SCNN1A", "SCNN1B", "SCNN1G", "SCNN1D", "CLCN2"], "pfam_ids": "PF00858", "domain_descriptions": ["Epithelial sodium channel", "Epithelial sodium channel", "chordates", "Epithelial sodium channel", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000166828", "synonym": "ENACGAMMA, SCNEG", "ortholog_mouse": "Scnn1g", "ortholog_c_elegans": "del-1, del-4, mec-10, mec-4, unc-8", "ortholog_xenopus": "scnn1g", "ortholog_drosophila": "ppk22", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5761, "sd_percent_ciliated": 4.5219, "z_score": 0.311 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.62, "sd_percent_ciliated": 9.62, "z_score": 9.62 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9052, "sd_percent_ciliated": -0.9052, "z_score": -0.9052 } ] }, { "gene": "SDCCAG8", "ensembl_id": "ENSG00000054282", "overexpression_effects": "Not Reported", "lof_effects": "Fewer", "percent_ciliated_cells_effects": "Decreased", "description": "SHH signaling and ciliogenesis regulator SDCCAG8 [Source:HGNC Symbol,Acc:HGNC:10671]", "omim_id": "613524", "functional_summary": "Mutations cause nephronophthisis type 10. Interacts with ODF1 and FAM161A (20835237, 24722439) and FA161A, plays a role in intraciliary trafficking and is essential for the survival and mainte nce of both rods and cones (24722439). Mutations have also been reported in patients with Bardet-Biedl syndrome (22190896). Required for the formation of outer segments (22825473).", "localization": "cilia, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "27746045, 30621560, 22190896, 22626039, 31534065, 20835237 ,22190896, 22626039; 31534065; 20835237", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000054282", "synonym": "BBS16, CCCAP, NPHP10, NY-CO-8, SLSN7", "ciliopathy": "Bardet–Biedl Syndrome; Nephronophthisis; Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sdccag8", "ortholog_xenopus": "sdccag8", "ortholog_zebrafish": "sdccag8", "ortholog_drosophila": "CG45105", "screens": {} }, { "gene": "SELENOV", "ensembl_id": "ENSG00000186838", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "selenoprotein V [Source:HGNC Symbol;Acc:HGNC:30399]", "omim_id": "607919", "functional_summary": "Loss of SELENOV gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000186838", "synonym": "SELV", "ortholog_mouse": "Selenov", "ortholog_zebrafish": "selenow1", "screens": [] }, { "gene": "SEMA3A", "ensembl_id": "ENSG00000075213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "semaphorin 3A [Source:HGNC Symbol,Acc:HGNC:10723]", "functional_summary": "The loss of AC3 activity in β3GnT2−/− mice leads to a misregulation of both Nrp1 and Sema3A expression. AC3-dependent cAMP regulates the expression of the axon guidance molecules Nrp1 and Sema3A, which influence glomerular positioning in the OB ( 21525298).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Axon guidance & growth", "reference": "2.1525298E7", "complex_components": ["NRP1", "PLXNA1", "SEMA3A"], "pfam_ids": ["PF01403", "PF18452"], "domain_descriptions": ["Sema domain", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin-like fold", "WD40/YVTN repeat-like-containing domain superfamily", "PSI domain", "Semaphorin", "Immunoglobulin-like domain superfamily", "Sema domain superfamily", "IL-1Ra-like", "immunoglobulin domain", "Semaphorin-3A", "sema domain"], "string_link": "https://string-db.org/network/9606/ENSG00000075213", "synonym": "COLL-1, HSEMA-I, SEMA1, SEMAD, SEMD", "ortholog_mouse": "Sema3a", "ortholog_c_elegans": "smp-1", "ortholog_xenopus": "sema3a", "ortholog_zebrafish": "sema3aa, sema3ab", "ortholog_drosophila": "Sema2a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.084, "sd_percent_ciliated": 0.105, "z_score": -0.2333 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.2, "sd_percent_ciliated": 1.2, "z_score": 1.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5474, "sd_percent_ciliated": -2.5474, "z_score": -2.5474 } ] }, { "gene": "SEMA4A", "ensembl_id": "ENSG00000196189", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "semaphorin 4A [Source:HGNC Symbol,Acc:HGNC:10729]", "omim_id": "607292", "functional_summary": "Mutations in the SEMA4A gene cause Retinitis Pigmentosa and Cone-Rod Dystrophy (PMID: 16199541).", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Axon guidance & growth", "reference": "16199541 ,16199541", "complex_components": ["PLXND1", "SEMA4A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000196189", "synonym": "CORD10, FLJ12287, SEMAB, SEMB", "ciliopathy": "Cone-Rod Dystrophy; Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sema4a", "ortholog_xenopus": "sema4a", "ortholog_zebrafish": "sema4ab", "ortholog_drosophila": "Sema2a", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.6539, "sd_percent_ciliated": 0.8052, "z_score": -0.5277, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.67, "sd_percent_ciliated": 4.67, "z_score": 4.67, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0848, "sd_percent_ciliated": -6.0848, "z_score": -6.0848, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SEMA4D", "ensembl_id": "ENSG00000187764", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "semaphorin 4D [Source:HGNC Symbol,Acc:HGNC:10732]", "omim_id": "601866", "functional_summary": "SEMA4D has localized in basal body ,transition zone.", "localization": "cilia,basal body ,transition zone, Endoplasmic", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Transition zone, Axon guidance & growth", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PLXNC1", "SEMA7A", "PLXNB1", "SEMA4D"], "pfam_ids": ["PF01437", "PF01403", "PF00047"], "domain_descriptions": ["Sema domain", "Plexin repeat", "Immunoglobulin-like domain", "Immunoglobulin-like fold", "WD40/YVTN repeat-like-containing domain superfamily", "PSI domain", "Semaphorin", "Immunoglobulin-like domain superfamily", "Sema domain superfamily", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like beta-sandwich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000187764", "synonym": "C9ORF164, CD100, COLL-4, FLJ39737, SEMAJ", "ortholog_mouse": "Sema4d", "ortholog_c_elegans": "smp-1", "ortholog_xenopus": "sema4d", "ortholog_zebrafish": "sema4d", "ortholog_drosophila": "Sema2a", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.4753, "sd_percent_ciliated": 8.0087, "z_score": -0.1858, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.334, "sd_percent_ciliated": 0.334, "z_score": 0.334, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9446, "sd_percent_ciliated": -2.9446, "z_score": -2.9446, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SENP2", "ensembl_id": "ENSG00000163904", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "SUMO specific peptidase 2 [Source:HGNC Symbol,Acc:HGNC:23116]", "omim_id": "608261", "functional_summary": "Overexpression of the SUMO protease SENP2 prevented ciliary localization of AC3, without affecting ciliation or cilia mainte nce ( 25908845).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "2.5908845E7", "complex_components": {}, "pfam_ids": "PF02902", "domain_descriptions": ["Ulp1 protease family", "C-terminal catalytic domain", "Papain-like cysteine peptidase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000163904", "synonym": "AXAM2, DKFZP762A2316, KIAA1331, SMT3IP2", "ortholog_mouse": "Senp2", "ortholog_c_elegans": "ulp-1", "ortholog_zebrafish": "senp2", "ortholog_drosophila": "CG32110, Ulp1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.3474, "sd_percent_ciliated": 16.8095, "z_score": 1.3737 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 11.4, "sd_percent_ciliated": 11.4, "z_score": 11.4 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.3633, "sd_percent_ciliated": -4.3633, "z_score": -4.3633 } ] }, { "gene": "SENP3", "ensembl_id": "ENSG00000161956", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SUMO specific peptidase 3 [Source:HGNC Symbol,Acc:HGNC:17862]", "omim_id": "612844", "functional_summary": "SUMO specific peptidase 3 (SENP3). Domi nt form of de-sumoylation enzymes in human reti (30621560)", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "20558667, 24317785, 23572511", "complex_components": ["ASH2L", "BAP18", "CHD8", "E2F6", "HCFC1", "HSPA4", "INO80C", "KANSL1", "KAT8", "KMT2A", "LAS1L", "MCRS1", "MGAM", "PELP1", "PHF20", "PRPF31", "RBBP5", "RNF2", "RUVBL1", "SENP3", "TAF1", "TAF4", "TAF6", "TAF7", "TAF9", "TEX10", "WDR5", "WDR18", "NOL9", "MDN1"], "pfam_ids": ["PF02902", "PF19722"], "domain_descriptions": ["Ulp1 protease family", "C-terminal catalytic domain", "Papain-like cysteine peptidase superfamily", "Sentrin-specific protease 3/5", "conserved domain"], "string_link": "https://string-db.org/network/9606/ENSG00000161956", "synonym": "DKFZP586K0919, DKFZP762A152, SMT3IP1, SSP3, ULP1", "ortholog_mouse": "Senp3", "ortholog_zebrafish": "senp3a, senp3b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.8398, "sd_percent_ciliated": 5.3688, "z_score": -0.1417, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.01, "sd_percent_ciliated": 7.01, "z_score": 7.01, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0259, "sd_percent_ciliated": -6.0259, "z_score": -6.0259, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SEPTIN11", "ensembl_id": "ENSG00000138758", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "septin 11 [Source:HGNC Symbol,Acc:HGNC:25589]", "omim_id": "612887", "functional_summary": "Septins are either enriched at the apical cell cortex including the ciliary bases (septin-2, -4, -6, and -7), or show axonemal staining (septin-2, -7, -9 and -11) or specifically localize to ciliary sub-compartments (septin-8 and -9)(24317785).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "2.4317785E7", "complex_components": {}, "pfam_ids": "PF00735", "domain_descriptions": ["Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138758", "synonym": "FLJ10849, SEPT11, SEPTIN-11", "ortholog_mouse": "Septin11", "ortholog_c_elegans": "unc-61", "ortholog_xenopus": "septin11", "ortholog_drosophila": "Septin2, Septin5", "screens": {} }, { "gene": "SEPTIN2", "ensembl_id": "ENSG00000168385", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "septin 2 [Source:HGNC Symbol,Acc:HGNC:7729]", "omim_id": "601506", "functional_summary": "Component of a diffusion barrier at the ciliary base, essential for retaining receptor-sig ling pathways in the primary cilium, and is required for cilium-dependent Shh sig l transduction. Depletion inhibits ciliogenesis (20558667). Ciliary localisation of SEPT2, suggest that it is involved in organization of the axonemal microtubular structure, controling ciliogenesis and ciliary length (24317785). Forms a complex with SEPT7 and SEPT9 to positively control ciliogenesis and the length of cilia (23572511).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "24469395 ,22179047", "complex_components": {}, "pfam_ids": "PF00735", "domain_descriptions": ["Septin 2", "Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000168385", "synonym": "DIFF6, HNEDD5, KIAA0158, NEDD5, PNUTL3, SEPT2, SEPTIN-2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Septin2", "ortholog_c_elegans": "unc-59", "ortholog_xenopus": "septin2", "ortholog_zebrafish": "septin2", "ortholog_drosophila": "Septin1", "screens": {} }, { "gene": "SEPTIN3", "ensembl_id": "ENSG00000100167", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "septin 3 [Source:HGNC Symbol,Acc:HGNC:10750]", "omim_id": "608314", "functional_summary": "SEPTIN3 localized at cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["SEPTIN3", "SEPTIN5"], "pfam_ids": "PF00735", "domain_descriptions": ["Septin 3", "Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000100167", "synonym": "SEP3, SEPT3", "ortholog_mouse": "Septin3", "ortholog_xenopus": "septin3", "ortholog_zebrafish": "septin3", "screens": {} }, { "gene": "SEPTIN4", "ensembl_id": "ENSG00000108387", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "septin 4 [Source:HGNC Symbol,Acc:HGNC:9165]", "omim_id": "603696", "functional_summary": "Septins are either enriched at the apical cell cortex including the ciliary bases (septin-2, -4, -6, and -7), or show axonemal staining (septin-2, -7, -9 and -11) or specifically localize to ciliary sub-compartments (septin-8 and -9)(24317785).", "localization": "basal body, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.4317785E7", "complex_components": {}, "pfam_ids": ["PF00735", "PF15548"], "domain_descriptions": ["Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain", "Protein of Not Reported function DUF4655"], "string_link": "https://string-db.org/network/9606/ENSG00000108387", "synonym": "ARTS, C17ORF47, CE5B3, FLJ40121, H5, HCDCREL-2, HUCEP-7, MART, PNUTL2, SEPT4, SEPTIN-4", "ortholog_mouse": "Septin4", "ortholog_c_elegans": "unc-59", "ortholog_xenopus": "septin4", "ortholog_zebrafish": "septin4a, septin4b, zgc:162239", "ortholog_drosophila": "Septin4", "screens": {} }, { "gene": "SEPTIN6", "ensembl_id": "ENSG00000125354", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "septin 6 [Source:HGNC Symbol,Acc:HGNC:15848]", "omim_id": "300683", "functional_summary": "Associates with acetylated 伪- tubulin and controls ciliogenesis. Knockdown results in aberrant cilium formation. Required for left- right patterning of visceral organs in zebrafish by controlling nodal sig ling and through KV ciliogenesis. Sept6 is also required for ciliogenesis in the neural tube (24469395).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "23572511, 20558667, 20671153", "complex_components": {}, "pfam_ids": "PF00735", "domain_descriptions": ["Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000125354", "synonym": "KIAA0128, MGC16619, MGC20339, SEP2, SEPT2, SEPT6, SEPTIN-6", "ortholog_mouse": "Septin6", "ortholog_c_elegans": "unc-61", "ortholog_xenopus": "septin6", "ortholog_zebrafish": "septin6", "ortholog_drosophila": "Septin2, Septin5", "screens": {} }, { "gene": "SEPTIN7", "ensembl_id": "ENSG00000122545", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "septin 7 [Source:HGNC Symbol,Acc:HGNC:1717]", "omim_id": "603151", "functional_summary": "Forms a complex with SEPT2 and SEPT9 to positively control ciliogenesis and the length of cilia (23572511). Component of a diffusion barrier at the ciliary base, essential for retaining receptor-sig ling pathways in the primary cilium (20558667). Knockdown affects ciliogenesis and disrupts expression of Hedgehog target genes (20671153).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17641202, 31825820", "complex_components": ["MAPK6", "MAPKAPK5", "SEPTIN7"], "pfam_ids": "PF00735", "domain_descriptions": ["Septin 7", "Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000122545", "synonym": "CDC10, CDC3, SEPT7, SEPT7A, SEPTIN-7", "ortholog_mouse": "Septin7", "ortholog_c_elegans": "unc-59", "ortholog_xenopus": "septin7", "ortholog_zebrafish": "septin7a, septin7b", "ortholog_drosophila": "pnut", "screens": {} }, { "gene": "SEPTIN8", "ensembl_id": "ENSG00000164402", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "septin 8 [Source:HGNC Symbol,Acc:HGNC:16511]", "omim_id": "608418", "functional_summary": "Septins are either enriched at the apical cell cortex including the ciliary bases (septin-2, -4, -6, and -7), or show axonemal staining (septin-2, -7, -9 and -11) or specifically localize to ciliary sub-compartments (septin-8 and -9)(24317785).", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "2.4317785E7", "complex_components": {}, "pfam_ids": "PF00735", "domain_descriptions": ["Septin", "P-loop containing nucleoside triphosphate hydrolase", "Septin-type guanine nucleotide-binding (G) domain"], "string_link": "https://string-db.org/network/9606/ENSG00000164402", "synonym": "KIAA0202, SEP2, SEPT8, SEPTIN-8", "ortholog_mouse": "Septin8", "ortholog_c_elegans": "unc-61", "ortholog_xenopus": "septin8", "ortholog_zebrafish": "septin8a, septin8b", "ortholog_drosophila": "Septin2", "screens": {} }, { "gene": "SEPTIN9", "ensembl_id": "ENSG00000184640", "overexpression_effects": "Longer cilia", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "septin 9 [Source:HGNC Symbol,Acc:HGNC:7323]", "omim_id": "604061", "functional_summary": "Septins are either enriched at the apical cell cortex including the ciliary bases (septin-2, -4, -6, and -7), or show axonemal staining (septin-2, -7, -9 and -11) or specifically localize to ciliary sub-compartments (septin-8 and -9)(24317785).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "2.4317785E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000184640", "synonym": "AF17Q25, KIAA0991, MSF, MSF1, PNUTL4, SEPT9, SEPTD1", "ortholog_mouse": "Septin9", "ortholog_xenopus": "septin9", "ortholog_zebrafish": "septin9a, septin9b", "screens": {} }, { "gene": "SESN1", "ensembl_id": "ENSG00000080546", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sestrin 1 [Source:HGNC Symbol,Acc:HGNC:21595]", "omim_id": "606103", "functional_summary": "Mutations in the SESN1 gene cause Visceral Heterotaxy (PMID: 12607115).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "1.2607115E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000080546", "synonym": "PA26, SEST1", "ortholog_mouse": "Sesn1", "ortholog_c_elegans": "sesn-1", "ortholog_xenopus": "sesn1", "ortholog_zebrafish": "sesn1", "ortholog_drosophila": "Sesn", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.3306, "sd_percent_ciliated": 8.888, "z_score": -1.1726, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.88, "sd_percent_ciliated": 1.88, "z_score": 1.88, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.9425, "sd_percent_ciliated": -6.9425, "z_score": -6.9425, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SETX", "ensembl_id": "ENSG00000107290", "description": "senataxin [Source:HGNC Symbol,Acc:HGNC:445]", "omim_id": "608465", "functional_summary": "Mutations in the SETX gene cause Spinocerebellar Ataxia(PMID: 14770181).", "localization": "Nucleoplasm,Cytokinetic bridge", "reference": "1.4770181E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000107290", "synonym": "SETX,Setx,ENSG00000107290, ALS4, AOA2, STEX, Sen1, SCAN2, SCAR1, bA479K20.2", "ortholog_mouse": "Setx", "ortholog_xenopus": "setx", "ortholog_zebrafish": "setx", "ortholog_drosophila": "Setx", "screens": [] }, { "gene": "SFI1", "ensembl_id": "ENSG00000198089", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "SFI1 centrin binding protein [Source:HGNC Symbol,Acc:HGNC:29064]", "omim_id": "612765", "functional_summary": "Saccharomyces cerevisiae Sfi1 protein , med Sfr1鈥揝fr13 in Tetrahyme , Nine of the Sfr proteins localize in unique polarized patterns surrounding the basal body (23426847).", "localization": "basal body, Cytosol, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "2.3426847E7", "complex_components": ["BCAS2", "BZW1", "CDC5L", "CWC15", "DYNC1H1", "GCN1", "HSPA8", "ILF2", "PLRG1", "PPM1D", "PPP1CA", "PRKDC", "PRPF19", "RBMX", "SCAF8", "SF3B1", "SF3B2", "SF3B4", "SFI1", "SFPQ", "SNRPA", "SNRPA1", "SNRPD1", "SNRPD2", "SNRPD3", "SRRM1", "SRSF1", "SRSF2", "TCF4", "TOP2A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000198089", "synonym": "KIAA0542, PISD, PPP1R139", "ortholog_mouse": "Pisd, Sfi1", "ortholog_c_elegans": "psd-1", "ortholog_xenopus": "pisd, sfi1", "ortholog_zebrafish": "pisd, sfi1", "ortholog_drosophila": "Pisd", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 19.4125, "sd_percent_ciliated": 10.4956, "z_score": -2.2531 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 13.8, "sd_percent_ciliated": 13.8, "z_score": 13.8 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.4908, "sd_percent_ciliated": -5.4908, "z_score": -5.4908 } ] }, { "gene": "SGO1", "ensembl_id": "ENSG00000129810", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "shugoshin 1 [Source:HGNC Symbol,Acc:HGNC:25088]", "omim_id": "609168", "functional_summary": "SGO-1 likely participates in constraining TAC-1 to the basal body by influencing the function of the transition zone 鈥榗iliary gate鈥", "localization": "basal body , transition zone, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Transition zone", "reference": "3.7296204E7", "complex_components": {}, "pfam_ids": ["PF07558", "PF07557"], "domain_descriptions": ["Shugoshin", "C-terminal", "Shugoshin", "N-terminal coiled-coil domain", "Shugoshin 1/2"], "string_link": "https://string-db.org/network/9606/ENSG00000129810", "synonym": "NY-BR-85, SGOL1", "ortholog_mouse": "Sgo1", "ortholog_xenopus": "sgo1", "ortholog_zebrafish": "sgo1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 10.2, "sd_percent_ciliated": 10.2, "z_score": 10.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SGTB", "ensembl_id": "ENSG00000197860", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "small glutamine rich tetratricopeptide repeat co-chaperone beta [Source:HGNC Symbol,Acc:HGNC:23567]", "omim_id": "620526", "functional_summary": "SGTB has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF16546", "PF00515", "PF13414"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "SGTA", "homodimerisation domain", "SGT"], "string_link": "https://string-db.org/network/9606/ENSG00000197860", "synonym": "FLJ39002, SGT2", "ortholog_mouse": "Sgtb", "ortholog_c_elegans": "sgt-1", "ortholog_xenopus": "sgtb", "ortholog_zebrafish": "sgtb", "ortholog_drosophila": "Sgt", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.0912, "sd_percent_ciliated": 7.5117, "z_score": -0.1112 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.6425, "sd_percent_ciliated": -7.6425, "z_score": -7.6425 } ] }, { "gene": "SH3D21", "ensembl_id": "ENSG00000214193", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SH3 domain containing 21 [Source:HGNC Symbol,Acc:HGNC:26236]", "functional_summary": "SH3D21 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF14604", "PF07653"], "domain_descriptions": ["SH3 domain", "SH3D21", "SH3 domain", "SH3-like domain superfamily", "Endophilin/SH3RF"], "string_link": "https://string-db.org/network/9606/ENSG00000214193", "synonym": "C1ORF113, FLJ22938", "ortholog_mouse": "Sh3d21", "ortholog_zebrafish": "sh3d21", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0196, "sd_percent_ciliated": 0.0196, "z_score": 0.0196, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1993, "sd_percent_ciliated": 0.1993, "z_score": 0.1993, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SH3KBP1", "ensembl_id": "ENSG00000147010", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "SH3 domain containing kinase binding protein 1 [Source:HGNC Symbol;Acc:HGNC:13867]", "omim_id": "300374", "functional_summary": "EHBP1L1- and CD2AP/CIN85-depleted cells had elongated cilia. The aberrantly elongated cilia phenotype and the ciliary localization defect of CD2AP/CIN85 in EHBP1L1-depleted cells were rescued by the expression of WT EHBP1L1, although this was not observed in the CD2AP/CIN85-binding-deficient mutant, indicating that the EHBP1L1-CD2AP/CIN85 interaction is crucial for controlling ciliary length(PMID: 36754282).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.6754282E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000147010", "synonym": "CIN85", "ortholog_mouse": "Sh3kbp1", "ortholog_c_elegans": "cdap-2", "ortholog_xenopus": "sh3kbp1", "ortholog_zebrafish": "sh3kbp1", "ortholog_drosophila": "cindr", "screens": [] }, { "gene": "SH3PXD2A", "ensembl_id": "ENSG00000107957", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SH3 and PX domains 2A [Source:HGNC Symbol,Acc:HGNC:23664]", "omim_id": "619455", "functional_summary": "SH3PXD2A has localized in ciliary tip, primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00787", "PF07653", "PF00018"], "domain_descriptions": ["SH3 domain", "Phox homology", "SH3PXD2A", "SH3 domain 3", "SH3PXD2A", "SH3 domain 1", "SH3PXD2A", "SH3 domain 2", "SH3PXD2A", "SH3 domain 4", "SH3PXD2A", "SH3 domain 5", "SH3-like domain superfamily", "PX domain superfamily", "SH3PXD2", "PX domain", "NADPH Oxidase and PX Domain-Containing"], "string_link": "https://string-db.org/network/9606/ENSG00000107957", "synonym": "FISH, KIAA0418, SH3MD1", "ortholog_mouse": "Sh3pxd2a", "ortholog_xenopus": "sh3pxd2a", "ortholog_zebrafish": "sh3pxd2aa, sh3pxd2ab", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.746, "sd_percent_ciliated": 0.746, "z_score": 0.746, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8726, "sd_percent_ciliated": -2.8726, "z_score": -2.8726, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SH3PXD2B", "ensembl_id": "ENSG00000174705", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SH3 and PX domains 2B [Source:HGNC Symbol;Acc:HGNC:29242]", "omim_id": "613293", "functional_summary": "All mice that had the Sh3pxd2bnee mutation went on to develop craniofacial dysmorphologies and subsequently otitis media, by as early as 11 days of age. Noteworthy changes in cilia and goblet cells of the middle ear mucosa in Sh3pxd2bnee mutant mice using scanning electronic microscopy found (PMID: 21818352).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, ECM & connective tissue", "reference": "2.1818352E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000174705", "synonym": "FLJ20831; KIAA1295", "ortholog_mouse": "Sh3pxd2b", "ortholog_xenopus": "sh3pxd2b", "ortholog_zebrafish": "sh3pxd2b", "screens": [] }, { "gene": "SHCBP1", "ensembl_id": "ENSG00000171241", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "SHC binding and spindle associated 1 [Source:HGNC Symbol,Acc:HGNC:29547]", "omim_id": "611027", "functional_summary": "Abrogating SHCBP1 to prevent primary cilia loss is an efficient strategy to combat AP(38215233).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8215233E7", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91"], "pfam_ids": ["PF23762", "PF13229"], "domain_descriptions": ["Parallel beta-helix repeat", "Pectin lyase fold/virulence factor", "Pectin lyase fold", "Right handed beta helix domain", "SHC SH2 domain-binding protein 1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000171241", "synonym": "FLJ22009, PAL", "ortholog_mouse": "Shcbp1", "ortholog_xenopus": "shcbp1", "ortholog_zebrafish": "shcbp1", "ortholog_drosophila": "nesd", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.652, "z_score": 0.676, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.9354, "z_score": 1.5661, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.8366 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.23, "z_score": 2.23, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.23 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.17, "z_score": -0.17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.17 } ] }, { "gene": "SHH", "ensembl_id": "ENSG00000164690", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sonic hedgehog signaling molecule [Source:HGNC Symbol,Acc:HGNC:10848]", "omim_id": "600725", "functional_summary": "Binds to Ptc1 and i ctivates it, leading to accumulation of Smo and activation of sig ling. Primary cilia regulates its activity ( 17641202). Shh controls patterning and proliferation through the primary cilium ( 31825820).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth", "reference": "33082319, 8896572, 11479728,11941477 ,8896572, 11479728,11941477", "complex_components": {}, "pfam_ids": ["PF01079", "PF01085"], "domain_descriptions": ["Hedgehog", "N-terminal signalling domain", "Hedgehog protein", "Hedgehog protein", "Hint domain", "Hint domain C-terminal", "Hint domain N-terminal", "Intein N-terminal splicing region", "Hedgehog signalling/DD-peptidase zinc-binding domain superfamily", "Hint domain superfamily", "Hedgehog Signaling"], "string_link": "https://string-db.org/network/9606/ENSG00000164690", "synonym": "HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Shh", "ortholog_c_elegans": "wrt-1, wrt-4, wrt-6, wrt-7, wrt-8", "ortholog_xenopus": "shh", "ortholog_zebrafish": "shha, shhb", "ortholog_drosophila": "hh", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.3265, "sd_percent_ciliated": 3.2902, "z_score": 1.4923 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.53, "sd_percent_ciliated": 1.53, "z_score": 1.53 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.7076, "sd_percent_ciliated": -1.7076, "z_score": -1.7076 } ] }, { "gene": "SHTN1", "ensembl_id": "ENSG00000187164", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "shootin 1 [Source:HGNC Symbol,Acc:HGNC:29319]", "omim_id": "611171", "functional_summary": "SHTN1 has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000187164", "synonym": "KIAA1598, SHOOTIN-1, SHOOTIN1", "ortholog_mouse": "Shtn1", "ortholog_xenopus": "shtn1", "ortholog_zebrafish": "shtn1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.67, "sd_percent_ciliated": 1.67, "z_score": 1.67, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SIAH2", "ensembl_id": "ENSG00000181788", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "siah E3 ubiquitin protein ligase 2 [Source:HGNC Symbol,Acc:HGNC:10858]", "omim_id": "602213", "functional_summary": "Shh sig ling maintains Siah2 expression (which supports ciliogenesis in a feed-forward fashion by restraining cilium disassembly) in cerebellar granule neuron (CGN) progenitors (GNPs) in a Ras/Mapk-dependent manner. This maintains GNPs to control CGN occupancy in the germi l zone (GZ) (33082319)", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "32213867, 24203696", "complex_components": ["LATS2", "SIAH2", "ZYX"], "pfam_ids": ["PF21361", "PF03145", "PF21362"], "domain_descriptions": ["Zinc finger", "RING-type", "E3 ubiquitin-protein ligase SINA-like", "animal", "TRAF-like", "Zinc finger", "SIAH-type", "Zinc finger", "RING/FYVE/PHD-type", "Seven-in-absentia protein", "TRAF-like domain", "E3 ubiquitin-protein ligase Sina-like", "RING finger"], "string_link": "https://string-db.org/network/9606/ENSG00000181788", "ortholog_mouse": "Siah2", "ortholog_c_elegans": "siah-1", "ortholog_xenopus": "siah2", "ortholog_zebrafish": "siah2l", "ortholog_drosophila": "sina", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.4265, "z_score": 0.6056, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 59.7619, "z_score": 2.6355, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.3367 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.63, "z_score": 5.63, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 5.63 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.802, "z_score": -6.802, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.802 } ] }, { "gene": "SIRT1", "ensembl_id": "ENSG00000096717", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "sirtuin 1 [Source:HGNC Symbol;Acc:HGNC:14929]", "omim_id": "604479", "functional_summary": "Small interfering RNA (siRNA)-mediated knockdown of SIRT1 in HuCCT1 cells induced cilia formation, whereas overexpression of SIRT1 in normal cholangiocytes suppressed ciliary expression(PMID: 34322899).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "3.4322899E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000096717", "synonym": "SIR2L1", "ortholog_mouse": "Sirt1", "ortholog_c_elegans": "sir-2.1", "ortholog_xenopus": "sirt1", "ortholog_zebrafish": "sirt1", "ortholog_drosophila": "Sirt1", "screens": [] }, { "gene": "SIRT2", "ensembl_id": "ENSG00000283100", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "sirtuin 2 [Source:HGNC Symbol,Acc:HGNC:10886]", "omim_id": "604480", "functional_summary": "Regulates cell cycle progression at mitosis, replication and G1/S transition. SIRT2 acts as a sensor that links growth factor-dependent sig l transduction and primary cilia formation by regulating the cell cycle under nutrient- present conditions. Suppression leads to a cell cycle arrest and promotes formation of primary cilia, by inhibiting mTOR sig ling mainly via mTORC1 (32213867). Functions as a tubulin deacetylase. Regulates ciliogenesis and centrosome amplification. Inhibition of SIRT2 induces hyperacetylation of 伪-tubulin and blocks cilia dissaembly. SIRT2 could also be responsible for aberrant centrosome amplification and polyploidy in polycystic kidney disease (24203696).", "localization": "cilia, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Neurogenesis & migration, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.2558177E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000283100", "synonym": "SIR2L", "ortholog_mouse": "Sirt2", "ortholog_xenopus": "sirt2", "ortholog_zebrafish": "sirt2", "ortholog_drosophila": "Sirt2", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.198, "sd_percent_ciliated": 8.4741, "z_score": 0.7498 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0919, "sd_percent_ciliated": 0.0919, "z_score": 0.0919 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0947, "sd_percent_ciliated": -0.0947, "z_score": -0.0947 } ] }, { "gene": "SIRT6", "ensembl_id": "ENSG00000077463", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sirtuin 6 [Source:HGNC Symbol;Acc:HGNC:14934]", "omim_id": "606211", "functional_summary": "Depletion of Sirt6 suppressed the number of human nasal epithelial cell cilia, and dramatically induced HMGB1 translocation from nucleus to cytoplasm in the HNE cells. Glycyrrhizic acid (GA) and glycyrrhetinic acid (GTA) are specific chemical compounds that may be isolated from the licorice plant(28685526).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Cardiac & muscle development, Transcription regulation", "reference": "2.8685526E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000077463", "ortholog_mouse": "Sirt6", "ortholog_c_elegans": "sir-2.4", "ortholog_xenopus": "sirt6", "ortholog_zebrafish": "sirt6", "ortholog_drosophila": "Sirt6", "screens": [] }, { "gene": "SIX3", "ensembl_id": "ENSG00000138083", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SIX homeobox 3 [Source:HGNC Symbol,Acc:HGNC:10889]", "omim_id": "603714", "functional_summary": "Six3 and Six6 together suppress Wnt/β-catenin sig ling and Wnt3a/β-catenin sig ling promotes ciliary margin cells at the cost of neuroreti ( 30485816).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Transcription regulation", "reference": "30485816, 10369266, 17001667 ,10369266, 17001667", "complex_components": ["HDAC1", "HDAC2", "KDM1A", "MBD2", "MBD3", "MTA3", "RBBP4", "RBBP7", "SIX3", "EYA4"], "pfam_ids": ["PF16878", "PF00046"], "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Homeobox protein SIX1", "N-terminal SD domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138083", "synonym": "HPE2", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Six3", "ortholog_c_elegans": "ceh-32", "ortholog_xenopus": "six3", "ortholog_zebrafish": "six3a, six3b", "ortholog_drosophila": "Optix", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.7572, "sd_percent_ciliated": 13.2481, "z_score": 0.0906, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.85, "sd_percent_ciliated": 2.85, "z_score": 2.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0139, "sd_percent_ciliated": -0.0139, "z_score": -0.0139, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SIX6", "ensembl_id": "ENSG00000184302", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SIX homeobox 6 [Source:HGNC Symbol,Acc:HGNC:10892]", "omim_id": "606326", "functional_summary": "Six3 and Six6 are jointly required to maintain multipotent reti l progenitors and Six3 and Six6 together suppress Wnt/β-catenin sig ling ( 30485816).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "3.0485816E7", "complex_components": {}, "pfam_ids": ["PF00046", "PF16878"], "domain_descriptions": ["Homeodomain", "Homedomain-like superfamily", "Homeobox protein SIX1", "N-terminal SD domain"], "string_link": "https://string-db.org/network/9606/ENSG00000184302", "synonym": "OPTX2, SIX9", "ortholog_mouse": "Six6", "ortholog_c_elegans": "ceh-32", "ortholog_xenopus": "six6", "ortholog_zebrafish": "six6a, six6b", "ortholog_drosophila": "Optix", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.7423, "sd_percent_ciliated": 6.5093, "z_score": 0.5734, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.45, "sd_percent_ciliated": 2.45, "z_score": 2.45, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.368, "sd_percent_ciliated": -1.368, "z_score": -1.368, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SKA1", "ensembl_id": "ENSG00000262634", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "spindle and kinetochore associated complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:28109]", "omim_id": "616673", "functional_summary": "SKA might function during cilium shortening to track the axonemal tip(26585297).", "localization": "cilia, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "2.6585297E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000262634", "synonym": "C18ORF24, MGC10200", "ortholog_mouse": "Ska1", "ortholog_c_elegans": "ska-1", "ortholog_xenopus": "ska1", "ortholog_zebrafish": "ska1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.09, "sd_percent_ciliated": 7.09, "z_score": 7.09, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3103, "sd_percent_ciliated": -4.3103, "z_score": -4.3103, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SKP1", "ensembl_id": "ENSG00000113558", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "S-phase kinase associated protein 1 [Source:HGNC Symbol,Acc:HGNC:10899]", "omim_id": "601434", "functional_summary": "SKP1 has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,31160656 *", "complex_components": ["CUL7", "FBXW8", "RBX1", "SKP1", "CUL1", "SKP2", "BTRC", "FBXW2", "FBXO31", "PFDN2", "POLR2E", "RUVBL1", "RUVBL2", "STAP1", "URI1", "FBXW11", "BCOR", "HSPA8", "KDM2B", "PCGF1", "RING1", "RNF2", "RYBP", "FBXW7", "CACYBP", "SIAH1", "TBL1X", "GLMN", "FBXO11", "NEDD8", "SMAD3", "FBH1", "ZC3HC1", "COPS8", "CUL2", "CUL3", "GPS1", "NFKBIA", "CRY1", "FBXL3", "CRY2", "CCNE1", "CDK2", "CDKN1B", "CKS1B", "ANKRD28", "CHUK", "IKBKE", "NFKB2", "PPP6C", "PPP6R1", "PPP6R2", "REL", "RELA", "IKBKB", "IKBKG", "IQGAP2", "KPNA2", "LRPPRC", "MCC", "MTIF2", "NFKB1", "NFKBIB", "PDCD2", "POLR1A", "POLR1B", "POLR1D", "POLR1E", "POLR1G", "POLR2H", "POLR2L", "RASAL2", "FBXO10", "FBXO6", "FBXO17", "FBXO27", "FBXO44", "Fbxo45", "MYCBP2", "BCORL1", "USP7", "YAF2"], "pfam_ids": ["PF03931", "PF01466"], "domain_descriptions": ["S-phase kinase-associated protein 1-like", "SKP1/BTB/POZ domain superfamily", "SKP1 component", "dimerisation", "SKP1 component", "POZ domain", "S-phase kinase-associated protein 1", "SKP1-like", "dimerisation domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000113558", "synonym": "EMC19, MGC34403, OCP-II, OCP2, P19A, SKP1A, TCEB1L", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Skp1", "ortholog_c_elegans": "skr-1, skr-10, skr-12, skr-13, skr-14, skr-15, skr-16, skr-17, skr-18, skr-2, skr-20, skr-3, skr-4, skr-5, skr-6, skr-7, skr-8, skr-9", "ortholog_xenopus": "skp1", "ortholog_zebrafish": "skp1", "ortholog_drosophila": "SkpA, SkpB, SkpC, SkpD, SkpE, SkpF", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 15.5, "sd_percent_ciliated": 15.5, "z_score": 15.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7879, "sd_percent_ciliated": -2.7879, "z_score": -2.7879, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLAIN2", "ensembl_id": "ENSG00000109171", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SLAIN motif family member 2 [Source:HGNC Symbol,Acc:HGNC:29282]", "omim_id": "610492", "functional_summary": "SLAIN2 localized to centrosome(21399614).", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.1399614E7", "complex_components": {}, "pfam_ids": "PF15301", "domain_descriptions": "SLAIN motif-containing protein", "string_link": "https://string-db.org/network/9606/ENSG00000109171", "synonym": "FLJ21611, KIAA1458", "ortholog_mouse": "Slain2", "ortholog_xenopus": "slain2", "ortholog_zebrafish": "slain2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.62, "sd_percent_ciliated": 1.62, "z_score": 1.62, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.1161, "sd_percent_ciliated": 3.1161, "z_score": 3.1161, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC12A2", "ensembl_id": "ENSG00000064651", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 12 member 2 [Source:HGNC Symbol,Acc:HGNC:10911]", "omim_id": "600840", "functional_summary": "SLC12A2 has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Cell migration & adhesion, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["SLC12A2", "EZR", "COMMD1", "SLC7A5"], "pfam_ids": ["PF08403", "PF00324", "PF03522"], "domain_descriptions": ["Solute carrier family 12 member 1/2", "Solute carrier family 12 member 2", "Amino acid permease/ SLC12A domain", "SLC12A transporter family", "Amino acid permease", "N-terminal", "SLC12A transporter", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000064651", "synonym": "BSC-2, BSC2, CCC1, NKCC1, PPP1R141", "ortholog_mouse": "Slc12a2", "ortholog_c_elegans": "nkcc-1", "ortholog_xenopus": "slc12a2", "ortholog_zebrafish": "slc12a2, slc12a2l", "ortholog_drosophila": "Ncc69", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.668, "z_score": 0.9932, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.751, "z_score": 2.7553, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.5039 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.65, "z_score": 6.65, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 6.65 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.2395, "z_score": -11.2395, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -11.2395 } ] }, { "gene": "SLC12A4", "ensembl_id": "ENSG00000124067", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 12 member 4 [Source:HGNC Symbol,Acc:HGNC:10913]", "omim_id": "604119", "functional_summary": "SLC12A4 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF03522", "PF00324"], "domain_descriptions": ["K/Cl co-transporter", "K/Cl co-transporter 1", "Amino acid permease/ SLC12A domain", "SLC12A transporter family", "SLC12A transporter", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000124067", "synonym": "KCC1", "ortholog_mouse": "Slc12a4", "ortholog_c_elegans": "kcc-2", "ortholog_xenopus": "slc12a4", "ortholog_zebrafish": "slc12a4", "ortholog_drosophila": "kcc", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.663, "sd_percent_ciliated": 0.1732, "z_score": 0.3215 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.02, "sd_percent_ciliated": 3.02, "z_score": 3.02 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5221, "sd_percent_ciliated": -2.5221, "z_score": -2.5221 } ] }, { "gene": "SLC1A5", "ensembl_id": "ENSG00000105281", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 1 member 5 [Source:HGNC Symbol,Acc:HGNC:10943]", "omim_id": "109190", "functional_summary": "SLC1A5 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Viral interactions", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00375", "domain_descriptions": ["Sodium:dicarboxylate symporter", "Sodium:dicarboxylate symporter", "conserved site", "Sodium:dicarboxylate symporter superfamily", "Dicarboxylate/Amino Acid:Cation Symporter"], "string_link": "https://string-db.org/network/9606/ENSG00000105281", "synonym": "AAAT, ASCT2, M7V1, RDRC", "ortholog_mouse": "Slc1a5", "ortholog_c_elegans": "glt-4", "ortholog_xenopus": "slc1a5", "ortholog_zebrafish": "slc1a5", "ortholog_drosophila": "Eaat1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.6965, "z_score": 1.0021, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.1754, "z_score": 2.6856, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.6989 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.445, "z_score": 0.445, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.445 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0546, "z_score": -0.0546, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.0546 } ] }, { "gene": "SLC22A14", "ensembl_id": "ENSG00000144671", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 22 member 14 [Source:HGNC Symbol,Acc:HGNC:8495]", "omim_id": "604048", "functional_summary": "SLC22A14 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00083", "domain_descriptions": ["Major facilitator", "sugar transporter-like", "MFS transporter superfamily", "Major facilitator superfamily domain"], "string_link": "https://string-db.org/network/9606/ENSG00000144671", "synonym": "OCTL2, ORCTL4", "ortholog_mouse": "Slc22a14", "ortholog_c_elegans": "B0252.3, F23F12.13, F23F12.3, oct-1", "ortholog_xenopus": "slc22a13", "ortholog_zebrafish": "slc22a13b", "ortholog_drosophila": "CG4462", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.1343, "sd_percent_ciliated": 8.9933, "z_score": 0.1363, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0797, "sd_percent_ciliated": 0.0797, "z_score": 0.0797, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.87, "sd_percent_ciliated": -2.87, "z_score": -2.87, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC24A4", "ensembl_id": "ENSG00000140090", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 24 member 4 [Source:HGNC Symbol,Acc:HGNC:10978]", "omim_id": "609840", "functional_summary": "ANXA1, ANXA2, ANXA5, S100A5, PMCA1, and NCKX4 (also known as SLC24A4)in the cilia of mouse OSNs (24748648).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4748648E7", "complex_components": {}, "pfam_ids": "PF01699", "domain_descriptions": ["Sodium/potassium/calcium exchanger", "Sodium/calcium exchanger membrane region", "NCX", "central ion-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000140090", "synonym": "NCKX4", "ortholog_mouse": "Slc24a4", "ortholog_xenopus": "slc24a4", "ortholog_zebrafish": "slc24a4a, slc24a4b", "ortholog_drosophila": "zyd", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.6605, "sd_percent_ciliated": 0.3632, "z_score": -0.2846, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.768, "sd_percent_ciliated": -4.768, "z_score": -4.768, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC26A3", "ensembl_id": "ENSG00000091138", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 26 member 3 [Source:HGNC Symbol,Acc:HGNC:3018]", "omim_id": "126650", "functional_summary": "Cl- is required for the entry of HCO3- that is necessary for sperm capacitation, implicating the involvement of SLC26A3 in transporting HCO3-, with CFTR providing the recycling pathway for Cl- (18784352).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation", "reference": "1.8784352E7", "complex_components": {}, "pfam_ids": ["PF01740", "PF00916"], "domain_descriptions": ["SLC26A/SulP transporter", "STAS domain", "SLC26A/SulP transporter domain", "Sulphate anion transporter", "conserved site", "STAS domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000091138", "synonym": "CLD, DRA", "ortholog_mouse": "Slc26a3", "ortholog_c_elegans": "sulp-7, sulp-8", "ortholog_xenopus": "slc26a3.2, slc26a3.3", "ortholog_zebrafish": "slc26a3.1, slc26a3.2", "ortholog_drosophila": "Prestin", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.4286, "sd_percent_ciliated": 2.7844, "z_score": 0.5354 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.72, "sd_percent_ciliated": 1.72, "z_score": 1.72 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0385, "sd_percent_ciliated": -0.0385, "z_score": -0.0385 } ] }, { "gene": "SLC2A2", "ensembl_id": "ENSG00000163581", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 2 member 2 [Source:HGNC Symbol,Acc:HGNC:11006]", "omim_id": "138160", "functional_summary": "SLC2A2 localized to flagella (25613900)", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Metabolism", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF00083", "domain_descriptions": ["Glucose transporter", "type 2 (GLUT2)", "Sugar/inositol transporter", "Major facilitator", "sugar transporter-like", "Sugar transporter", "conserved site", "Major facilitator superfamily domain", "MFS transporter superfamily", "Glucose transporter GLUT"], "string_link": "https://string-db.org/network/9606/ENSG00000163581", "synonym": "GLUT-2, GLUT2", "ortholog_mouse": "Slc2a2", "ortholog_c_elegans": "fdgt-1, R09B5.11", "ortholog_xenopus": "slc2a2", "ortholog_zebrafish": "slc2a2", "ortholog_drosophila": "CG7882, sut1, sut2, sut3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.3889, "sd_percent_ciliated": 3.826, "z_score": -0.0752 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.112, "sd_percent_ciliated": 0.112, "z_score": 0.112 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.1051, "sd_percent_ciliated": -9.1051, "z_score": -9.1051 } ] }, { "gene": "SLC2A5", "ensembl_id": "ENSG00000142583", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 2 member 5 [Source:HGNC Symbol,Acc:HGNC:11010]", "omim_id": "138230", "functional_summary": "SLC2A5 localized to flagella (25613900)", "localization": "flagella", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF00083", "domain_descriptions": ["Fructose transporter", "type 5 (GLUT5)", "Sugar/inositol transporter", "Major facilitator", "sugar transporter-like", "Sugar transporter", "conserved site", "Major facilitator superfamily domain", "MFS transporter superfamily", "Glucose transporter GLUT"], "string_link": "https://string-db.org/network/9606/ENSG00000142583", "synonym": "GLUT5", "ortholog_mouse": "Slc2a5", "ortholog_c_elegans": "K08F9.1", "ortholog_xenopus": "slc2a5", "ortholog_zebrafish": "slc2a5", "ortholog_drosophila": "CG7882, sut1, sut2, sut3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.7856, "sd_percent_ciliated": 4.4225, "z_score": -0.5117, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0924, "sd_percent_ciliated": 0.0924, "z_score": 0.0924, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC30A7", "ensembl_id": "ENSG00000162695", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 30 member 7 [Source:HGNC Symbol,Acc:HGNC:19306]", "omim_id": "611149", "functional_summary": "SLC30A7 is a candidate JS-associated gene ( 35751429).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.5751429E7", "complex_components": {}, "pfam_ids": "PF01545", "domain_descriptions": ["Cation efflux protein", "Cation efflux transmembrane domain superfamily", "Zinc transporter Msc2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000162695", "synonym": "ZNT7, ZNTL2", "ortholog_mouse": "Slc30a7", "ortholog_xenopus": "slc30a7", "ortholog_zebrafish": "slc30a7", "ortholog_drosophila": "ZnT86D", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.212, "sd_percent_ciliated": 8.5083, "z_score": 0.7515, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -13.3634, "sd_percent_ciliated": -13.3634, "z_score": -13.3634, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC38A4", "ensembl_id": "ENSG00000139209", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 38 member 4 [Source:HGNC Symbol,Acc:HGNC:14679]", "functional_summary": "SLC38A4 exhibited an opposite regulatory trend in ARL3T31A and ARL3T31A/C118F groups, while IQUB, UNC13D, RAB3IP, and GRIP1 were specifically downregulated in the ARL3T31A/C118F group ( 38457249).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "3.8457249E7", "complex_components": {}, "pfam_ids": "PF01490", "domain_descriptions": ["Amino acid transporter", "transmembrane domain"], "string_link": "https://string-db.org/network/9606/ENSG00000139209", "synonym": "ATA3, NAT3, PAAT, SNAT4", "ortholog_mouse": "Slc38a4", "ortholog_xenopus": "slc38a4", "ortholog_zebrafish": "slc38a4", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.0971, "sd_percent_ciliated": 0.677, "z_score": 1.101 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.07, "sd_percent_ciliated": 3.07, "z_score": 3.07 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.5219, "sd_percent_ciliated": -9.5219, "z_score": -9.5219 } ] }, { "gene": "SLC47A2", "ensembl_id": "ENSG00000180638", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 47 member 2 [Source:HGNC Symbol,Acc:HGNC:26439]", "omim_id": "609833", "functional_summary": "A multidrug-and-toxin extrusion transporter MATE2 (SLC47A2) was found as a brain-specific central gene in the ciliary module and confirmed the localization of MATE2 in cilia by immunofluorescence staining using MDCK cells as a model(22558177).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "2.2558177E7", "complex_components": {}, "pfam_ids": "PF01554", "domain_descriptions": ["Multi antimicrobial extrusion protein", "Multidrug and toxic compound extrusion family", "eukaryotic"], "string_link": "https://string-db.org/network/9606/ENSG00000180638", "synonym": "FLJ31196, MATE2, MATE2-K", "ortholog_mouse": "Slc47a1, Slc47a2", "ortholog_zebrafish": "slc47a2.1, slc47a4", "screens": {} }, { "gene": "SLC6A1", "ensembl_id": "ENSG00000157103", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 6 member 1 [Source:HGNC Symbol,Acc:HGNC:11042]", "omim_id": "137165", "functional_summary": "SLC6A1, a key GABA transporter, localized to cilia in control cells (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0623838E7", "complex_components": "SLC6A1", "pfam_ids": "PF00209", "domain_descriptions": ["Sodium:neurotransmitter symporter", "Sodium:neurotransmitter symporter", "GABA", "GAT-1", "Sodium:neurotransmitter symporter superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000157103", "synonym": "GABATHG, GABATR, GAT-1, GAT1, HGAT-1", "ortholog_mouse": "Slc6a1", "ortholog_c_elegans": "snf-11", "ortholog_xenopus": "slc6a1", "ortholog_zebrafish": "slc6a1a, slc6a1b", "ortholog_drosophila": "Gat", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.2477, "sd_percent_ciliated": 8.1927, "z_score": -0.2134, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.97, "sd_percent_ciliated": 0.97, "z_score": 0.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.6603, "sd_percent_ciliated": -11.6603, "z_score": -11.6603, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC6A12", "ensembl_id": "ENSG00000111181", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 6 member 12 [Source:HGNC Symbol,Acc:HGNC:11045]", "omim_id": "603080", "functional_summary": "Hyperosmolal stress induced Akr1b3 and Slc6a12 expression in both cell lines, but the response was greater in ciliated than nonciliated cells ( 28122715).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8122715E7", "complex_components": {}, "pfam_ids": "PF00209", "domain_descriptions": ["Sodium:neurotransmitter symporter", "Sodium:neurotransmitter symporter", "betaine", "Sodium:neurotransmitter symporter superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111181", "synonym": "BGT-1", "ortholog_mouse": "Slc6a12", "ortholog_xenopus": "slc6a12", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.3681, "sd_percent_ciliated": 3.0979, "z_score": -0.32 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.42, "sd_percent_ciliated": 3.42, "z_score": 3.42 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8991, "sd_percent_ciliated": -0.8991, "z_score": -0.8991 } ] }, { "gene": "SLC6A14", "ensembl_id": "ENSG00000268104", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 6 member 14 [Source:HGNC Symbol,Acc:HGNC:11047]", "omim_id": "300444", "functional_summary": "SLC6A14 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00209", "domain_descriptions": ["Sodium:neurotransmitter symporter", "Sodium:neurotransmitter symporter superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000268104", "ortholog_mouse": "Slc6a14", "ortholog_c_elegans": "snf-6", "ortholog_xenopus": "slc6a14, slc6a14.2", "ortholog_zebrafish": "slc6a14", "ortholog_drosophila": "GlyT", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.6395, "sd_percent_ciliated": 11.8236, "z_score": 1.0456, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.459, "sd_percent_ciliated": 0.459, "z_score": 0.459, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6076, "sd_percent_ciliated": -4.6076, "z_score": -4.6076, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC7A14", "ensembl_id": "ENSG00000013293", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 7 member 14 [Source:HGNC Symbol,Acc:HGNC:29326]", "omim_id": "615720", "functional_summary": "Mutations in the SLC7A14 gene cause Retinitis Pigmentosa (PMID: 24670872).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "2.4670872E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000013293", "synonym": "KIAA1613, PPP1R142", "ortholog_mouse": "Slc7a14", "ortholog_c_elegans": "Y53F4B.12", "ortholog_xenopus": "slc7a14", "ortholog_zebrafish": "slc7a14a, slc7a14b", "ortholog_drosophila": "CG12531", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.4008, "sd_percent_ciliated": 2.7116, "z_score": 0.5321, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.07, "sd_percent_ciliated": 1.07, "z_score": 1.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1599, "sd_percent_ciliated": -1.1599, "z_score": -1.1599, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC8A3", "ensembl_id": "ENSG00000100678", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 8 member A3 [Source:HGNC Symbol,Acc:HGNC:11070]", "omim_id": "607991", "functional_summary": "SLC8A3 has localized in flagella.", "localization": "flagella", "functional_category": "Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF01699", "PF03160", "PF16494"], "domain_descriptions": ["Na-Ca exchanger/integrin-beta4", "Sodium/calcium exchanger protein", "Sodium/calcium exchanger membrane region", "Sodium/calcium exchanger domain", "C-terminal extension", "CalX-like domain superfamily", "NCX", "central ion-binding domain superfamily", "Calcium/Cation Antiporter"], "string_link": "https://string-db.org/network/9606/ENSG00000100678", "synonym": "NCX3", "ortholog_mouse": "Slc8a3", "ortholog_c_elegans": "ncx-1, ncx-2", "ortholog_xenopus": "slc8a3", "ortholog_zebrafish": "slc8a3", "ortholog_drosophila": "Calx", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.9609, "sd_percent_ciliated": 8.4733, "z_score": -0.3693, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.22, "sd_percent_ciliated": 2.22, "z_score": 2.22, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.1689, "sd_percent_ciliated": 2.1689, "z_score": 2.1689, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC9A1", "ensembl_id": "ENSG00000090020", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 9 member A1 [Source:HGNC Symbol,Acc:HGNC:11071]", "omim_id": "107310", "functional_summary": "Knockdown of either slc9a1, slc9a2, and slc9a3 resulted in a significant reduction in fluid flow velocity, revealing defective mucociliary function in morphant embryos ( 30300884).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cardiac & muscle development, Muscle contraction & physiology", "reference": "3.0300884E7", "complex_components": {}, "pfam_ids": ["PF16644", "PF00999"], "domain_descriptions": ["Sodium/hydrogen exchanger 1-like", "Na+/H+ exchanger", "Cation/H+ exchanger", "transmembrane domain", "Cation/H+ exchanger", "CPA1 family", "Sodium/hydrogen exchanger", "regulatory region"], "string_link": "https://string-db.org/network/9606/ENSG00000090020", "synonym": "APNH, NHE-1, NHE1, PPP1R143", "ortholog_mouse": "Slc9a1", "ortholog_c_elegans": "nhx-2, nhx-6", "ortholog_xenopus": "slc9a1", "ortholog_zebrafish": "slc9a1a, slc9a1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.121, "sd_percent_ciliated": 1.7598, "z_score": -0.5922 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.135, "sd_percent_ciliated": 0.135, "z_score": 0.135 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.162, "sd_percent_ciliated": -3.162, "z_score": -3.162 } ] }, { "gene": "SLC9A2", "ensembl_id": "ENSG00000115616", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 9 member A2 [Source:HGNC Symbol,Acc:HGNC:11072]", "omim_id": "600530", "functional_summary": "Knockdown of either slc9a1, slc9a2, and slc9a3 resulted in a significant reduction in fluid flow velocity, revealing defective mucociliary function in morphant embryos ( 30300884).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.0300884E7", "complex_components": {}, "pfam_ids": ["PF00999", "PF16644"], "domain_descriptions": ["Sodium/hydrogen exchanger 2/4", "Na+/H+ exchanger", "Cation/H+ exchanger", "transmembrane domain", "Cation/H+ exchanger", "CPA1 family", "Sodium/hydrogen exchanger", "regulatory region"], "string_link": "https://string-db.org/network/9606/ENSG00000115616", "synonym": "NHE2", "ortholog_mouse": "Slc9a2", "ortholog_c_elegans": "nhx-3, nhx-6, nhx-9", "ortholog_zebrafish": "slc9a2", "ortholog_drosophila": "Nhe2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.1294, "sd_percent_ciliated": 10.4726, "z_score": 0.1357 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0005, "sd_percent_ciliated": 0.0005, "z_score": 0.0005 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.9674, "sd_percent_ciliated": -2.9674, "z_score": -2.9674 } ] }, { "gene": "SLC9A3", "ensembl_id": "ENSG00000281861", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 9 member A3 [Source:HGNC Symbol,Acc:HGNC:11073]", "omim_id": "182307", "functional_summary": "Knockdown of either slc9a1, slc9a2, and slc9a3 resulted in a significant reduction in fluid flow velocity, revealing defective mucociliary function in morphant embryos ( 30300884).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.0300884E7", "complex_components": ["ACTN4", "NHERF2", "SLC9A3", "CHP1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000281861", "synonym": "NHE-3, NHE3", "ortholog_mouse": "Slc9a3", "ortholog_c_elegans": "nhx-2, nhx-3, nhx-6, nhx-9", "ortholog_xenopus": "slc9a3", "ortholog_zebrafish": "slc9a3.1, slc9a3.2", "ortholog_drosophila": "Nhe2", "screens": {} }, { "gene": "SLC9A3R1-AS1", "ensembl_id": "ENSG00000266036", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SLC9A3R1 antisense RNA 1 [Source:HGNC Symbol,Acc:HGNC:55322]", "functional_summary": "SLC9A3R1 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000266036", "screens": {} }, { "gene": "SLC9B1", "ensembl_id": "ENSG00000164037", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 9 member B1 [Source:HGNC Symbol,Acc:HGNC:24244]", "omim_id": "611527", "functional_summary": "NHA2 is specifically localized in the principal piece of sperm tail, which is similar to NHA1 expression pattern (27010853).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7010853E7", "complex_components": {}, "pfam_ids": "PF00999", "domain_descriptions": ["Cation/H+ exchanger", "transmembrane domain", "Sodium/solute symporter superfamily", "Monovalent cation:proton antiporter 1"], "string_link": "https://string-db.org/network/9606/ENSG00000164037", "synonym": "NHA1, NHEDC1", "ortholog_mouse": "Slc9b1", "ortholog_c_elegans": "F41E7.2, slc-9B.1, slc-9B.2", "ortholog_xenopus": "slc9b2", "ortholog_zebrafish": "si:dkey-162b23.4", "ortholog_drosophila": "Nha1, Nha2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.05, "sd_percent_ciliated": 0.05, "z_score": 0.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.8778, "sd_percent_ciliated": -6.8778, "z_score": -6.8778, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC9B2", "ensembl_id": "ENSG00000164038", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 9 member B2 [Source:HGNC Symbol,Acc:HGNC:25143]", "omim_id": "611789", "functional_summary": "NHA2 is specifically localized in the principal piece of sperm tail, which is similar to NHA1 expression pattern (27010853).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.7010853E7", "complex_components": {}, "pfam_ids": "PF00999", "domain_descriptions": ["Cation/H+ exchanger", "transmembrane domain", "Sodium/solute symporter superfamily", "Monovalent cation:proton antiporter 1"], "string_link": "https://string-db.org/network/9606/ENSG00000164038", "synonym": "FLJ23984, NHA2, NHEDC2", "ortholog_mouse": "Slc9b2", "ortholog_c_elegans": "F41E7.2, slc-9B.1, slc-9B.2", "ortholog_xenopus": "slc9b2", "ortholog_zebrafish": "si:dkey-162b23.4", "ortholog_drosophila": "Nha1, Nha2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3195, "sd_percent_ciliated": 0.3195, "z_score": 0.3195, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLC9C1", "ensembl_id": "ENSG00000172139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier family 9 member C1 [Source:HGNC Symbol,Acc:HGNC:31401]", "omim_id": "612738", "functional_summary": "Indirect immunofluorescence microscopy of mouse caudal epididymal spermatozoa demonstrated that the NHE was localized to the principle piece of the sperm flagellum (14634667).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.4634667E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000172139", "synonym": "NHE, SLC9A10", "ortholog_mouse": "Slc9c1", "screens": {} }, { "gene": "SLCO6A1", "ensembl_id": "ENSG00000205359", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "solute carrier organic anion transporter family member 6A1 [Source:HGNC Symbol,Acc:HGNC:23613]", "omim_id": "613365", "functional_summary": "As the wing structure is seen in the mouse but not human CatSper , the association of SLCO6C1 with CatSper channel complex might be a species-specific molecular mechanism such as linking Ca2+ homeostasis to ATP production (35715406).", "localization": "flagella", "functional_category": "Metabolism", "reference": "3.5715406E7", "complex_components": {}, "pfam_ids": ["PF07648", "PF03137"], "domain_descriptions": ["Kazal domain", "Organic anion transporter polypeptide", "Kazal domain superfamily", "MFS transporter superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000205359", "synonym": "CT48, MGC26949, OATP6A1, OATPY", "ortholog_mouse": "Slco6c1, Slco6d1", "ortholog_c_elegans": "F53B1.8, Y70G10A.3", "ortholog_xenopus": "slco4c1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.2372, "sd_percent_ciliated": 10.0204, "z_score": 0.7546, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.2, "sd_percent_ciliated": 4.2, "z_score": 4.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.11, "sd_percent_ciliated": 1.11, "z_score": 1.11, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.7862, "sd_percent_ciliated": -3.7862, "z_score": -3.7862, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLK", "ensembl_id": "ENSG00000065613", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "STE20 like kinase [Source:HGNC Symbol,Acc:HGNC:11088]", "omim_id": "616563", "functional_summary": "The occurrence of primary cilia also significantly decreased when SLK/LOSK was repressed ( 31079229).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "3.1079229E7", "complex_components": {}, "pfam_ids": ["PF00069", "PF12474"], "domain_descriptions": ["Protein kinase domain", "UVR domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Polo kinase kinase", "STE20 Subfamily Serine/Threonine Kinases"], "string_link": "https://string-db.org/network/9606/ENSG00000065613", "synonym": "KIAA0204, SE20-9, STK2", "ortholog_mouse": "Slk", "ortholog_c_elegans": "gck-4", "ortholog_xenopus": "slk", "ortholog_zebrafish": "slka, slkb", "ortholog_drosophila": "Slik", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.124, "sd_percent_ciliated": 9.1026, "z_score": -0.2284, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.28, "sd_percent_ciliated": 3.28, "z_score": 3.28, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1984, "sd_percent_ciliated": -1.1984, "z_score": -1.1984, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SLMAP", "ensembl_id": "ENSG00000163681", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "sarcolemma associated protein [Source:HGNC Symbol,Acc:HGNC:16643]", "omim_id": "602701", "functional_summary": "SLMAP3 is essential for mouse embryogenesis through novel mechanisms involving the primary cilium/PCP and protein stability independent of Hippo sig lling ( 39417621).", "localization": "Ciliary associated gene, Endoplasmic", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "3.9417621E7", "complex_components": {}, "pfam_ids": "PF00498", "domain_descriptions": ["Forkhead-associated (FHA) domain", "SMAD/FHA domain superfamily", "Centrosomal and Immune Signaling Modulators"], "string_link": "https://string-db.org/network/9606/ENSG00000163681", "synonym": "KIAA1601, SLAP", "ortholog_mouse": "Slmap", "ortholog_c_elegans": "slmp-1", "ortholog_xenopus": "slmap", "ortholog_zebrafish": "slmapa, slmapb", "ortholog_drosophila": "Slmap", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.9676, "sd_percent_ciliated": 4.1313, "z_score": 0.9642 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 22.1, "sd_percent_ciliated": 22.1, "z_score": 22.1 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.7802, "sd_percent_ciliated": -8.7802, "z_score": -8.7802 } ] }, { "gene": "SMAD2", "ensembl_id": "ENSG00000175387", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "SMAD family member 2 [Source:HGNC Symbol,Acc:HGNC:6768]", "omim_id": "601366", "functional_summary": "Madiator in the activation of TGF-尾 sig ling pathway and controls cilia length (25959824). Downstream of TGFBR1 and 2, which phosphorylate SMAD2/3 at base of cilium upon TGF-尾 stimulation (23746451).", "localization": "basal body, transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation, Cilia length regulation", "reference": "23746451, 20011520", "complex_components": ["PML", "SMAD2", "SMAD3", "ZFYVE9", "ARID1B", "CREBBP", "NCOA3", "SMAD4", "SMARCA4", "SMARCC1", "SMARCC2", "TRIM33", "FOXH1", "SKI", "NCOR1", "TGIF1", "HDAC1", "SMUF2", "LEMD3", "WWTR1", "PPM1A", "PTEN", "PARP1", "PARP2", "PARG"], "pfam_ids": ["PF03166", "PF03165"], "domain_descriptions": ["SMAD domain", "Dwarfin-type", "MAD homology 1", "Dwarfin-type", "SMAD/FHA domain superfamily", "MAD homology", "MH1", "Dwarfin", "SMAD-like domain superfamily", "SMAD MH1 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000175387", "synonym": "JV18-1, MADH2, MADR2", "ortholog_mouse": "Smad2", "ortholog_c_elegans": "sma-2", "ortholog_xenopus": "smad2", "ortholog_zebrafish": "smad2", "ortholog_drosophila": "Smox", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.5843, "sd_percent_ciliated": 16.4882, "z_score": 1.6447 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.065, "sd_percent_ciliated": 0.065, "z_score": 0.065 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -11.7081, "sd_percent_ciliated": -11.7081, "z_score": -11.7081 } ] }, { "gene": "SMAD3", "ensembl_id": "ENSG00000166949", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMAD family member 3 [Source:HGNC Symbol,Acc:HGNC:6769]", "omim_id": "603109", "functional_summary": "Downstream of TGFBR1 and 2, which phosphorylate SMAD2/3 at base of cilium upon TGF-尾 stimulation (23746451). Sox2 can interact with Smad3 and inhibit TGF-尾1/Smad3- mediated transcriptio l activity (20011520).", "localization": "cilia, basal body, transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, ECM & connective tissue, Transcription regulation", "reference": "17641202, 28344083, 16136078, 16229832, 32435793", "complex_components": ["E2F4", "E2F5", "RBL1", "SMAD3", "SMAD4", "TFDP1", "ANAPC10", "CDH1", "NEDD9", "PML", "SMAD2", "ZFYVE9", "AXIN1", "TGFBR1", "EP300", "PIAS3", "BTRC", "CUL1", "RBX1", "SKP1", "FOS", "JUN", "CTCF", "SP1", "FOXG1", "FOXO3", "FOSB", "JUND", "FOXO1", "FOXO4", "BRCA1", "ARID1B", "CREBBP", "NCOA3", "SMARCA4", "SMARCC1", "SMARCC2", "TRIM33", "SKI", "NCOR1", "HDAC1", "SIN3A", "SMUF2", "SKIL", "SMURF2", "TGFBR2", "WWTR1", "PPM1A", "PTEN", "HYAL2", "WWOX", "AR", "PARP1", "PARP2", "PARG"], "pfam_ids": ["PF03165", "PF03166"], "domain_descriptions": ["SMAD domain", "Dwarfin-type", "MAD homology 1", "Dwarfin-type", "SMAD/FHA domain superfamily", "MAD homology", "MH1", "Dwarfin", "SMAD-like domain superfamily", "SMAD MH1 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000166949", "synonym": "HST17436, JV15-2, MADH3", "ortholog_mouse": "Smad3", "ortholog_c_elegans": "sma-2", "ortholog_xenopus": "smad3", "ortholog_zebrafish": "smad3a, smad3b", "ortholog_drosophila": "Smox", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.4552, "sd_percent_ciliated": 3.1883, "z_score": -0.1883, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2774, "sd_percent_ciliated": 0.2774, "z_score": 0.2774, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMAD4", "ensembl_id": "ENSG00000141646", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMAD family member 4 [Source:HGNC Symbol,Acc:HGNC:6770]", "omim_id": "600993", "functional_summary": "SMAD4 has localized in ciliary tip,basal body.", "localization": "basal body , cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, ECM & connective tissue, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["E2F4", "E2F5", "RBL1", "SMAD3", "SMAD4", "TFDP1", "FOS", "JUN", "TRIM33", "CTCF", "SP1", "FOXG1", "FOXO3", "FOSB", "JUND", "FOXO1", "FOXO4", "ARID1B", "CREBBP", "NCOA3", "SMAD2", "SMARCA4", "SMARCC1", "SMARCC2", "FOXH1", "SKI", "SKIL", "NCOR1", "TGIF1", "HDAC1", "WWTR1", "HYAL2", "WWOX", "TP53", "PARP1", "PARP2"], "pfam_ids": ["PF03166", "PF03165"], "domain_descriptions": ["SMAD domain", "Dwarfin-type", "MAD homology 1", "Dwarfin-type", "SMAD/FHA domain superfamily", "MAD homology", "MH1", "Dwarfin", "SMAD-like domain superfamily", "SMAD MH1 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000141646", "synonym": "DPC4, MADH4", "ortholog_mouse": "Smad4", "ortholog_c_elegans": "sma-4", "ortholog_xenopus": "smad4", "ortholog_zebrafish": "smad4a, smad4b", "ortholog_drosophila": "Med", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.5873, "sd_percent_ciliated": 1.1085, "z_score": 0.3123, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.82, "sd_percent_ciliated": 3.82, "z_score": 3.82, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0859, "sd_percent_ciliated": -6.0859, "z_score": -6.0859, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMAD6", "ensembl_id": "ENSG00000137834", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMAD family member 6 [Source:HGNC Symbol,Acc:HGNC:6772]", "omim_id": "602931", "functional_summary": "SMAD6 has localized in basal body.", "localization": "cilia,basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["HOXC8", "SMAD6", "HOXA9", "PELI1"], "pfam_ids": ["PF03166", "PF03165"], "domain_descriptions": ["SMAD domain", "Dwarfin-type", "MAD homology 1", "Dwarfin-type", "SMAD/FHA domain superfamily", "MAD homology", "MH1", "Dwarfin", "SMAD-like domain superfamily", "SMAD MH1 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137834", "synonym": "HST17432, MADH6, MADH7", "ortholog_mouse": "Smad6", "ortholog_c_elegans": "tag-68", "ortholog_xenopus": "smad6", "ortholog_zebrafish": "smad6a, smad6b", "ortholog_drosophila": "Dad", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.0943, "sd_percent_ciliated": 11.0279, "z_score": -0.5955, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.86, "sd_percent_ciliated": 1.86, "z_score": 1.86, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7654, "sd_percent_ciliated": -1.7654, "z_score": -1.7654, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMAD7", "ensembl_id": "ENSG00000101665", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMAD family member 7 [Source:HGNC Symbol,Acc:HGNC:6773]", "omim_id": "602932", "functional_summary": "SMAD7 localizing to the basal body", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, ECM & connective tissue, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["SMAD7", "SMURF2", "TGFBR1", "TGFBR2", "SMURF1", "ACVR1B", "FKBP1A"], "pfam_ids": ["PF03165", "PF03166"], "domain_descriptions": ["SMAD domain", "Dwarfin-type", "MAD homology 1", "Dwarfin-type", "SMAD/FHA domain superfamily", "MAD homology", "MH1", "Dwarfin", "SMAD-like domain superfamily", "SMAD MH1 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000101665", "synonym": "MADH7, MADH8", "ortholog_mouse": "Smad7", "ortholog_c_elegans": "tag-68", "ortholog_xenopus": "smad7", "ortholog_zebrafish": "smad7", "ortholog_drosophila": "Dad", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.8897, "z_score": 0.7502, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.3857, "z_score": 2.7111, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.3498 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 18.9, "z_score": 18.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 18.9 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.4574, "z_score": -7.4574, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -7.4574 } ] }, { "gene": "SMC1A", "ensembl_id": "ENSG00000072501", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "structural maintenance of chromosomes 1A [Source:HGNC Symbol,Acc:HGNC:11111]", "omim_id": "300040", "functional_summary": "SMC1 is a centrosomal protein, suggesting possible involvement of SMC1 in centrosome/basal body-related functions, such as organization of dy mic arrays of and ciliary formation (18515072, 16043481).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "18515072, 16604071, 17273969 ,16604071, 17273969", "complex_components": ["RAD21", "SMC1A", "SMC3", "STAG1", "STAG2", "BAZ1A", "CHD3", "HDAC1", "HDAC2", "MBD2", "MBD3", "MTA1", "MTA2", "RBBP4", "RBBP7", "SMARCA5", "LIG3", "POLE", "POLE2", "SMC2", "MDC1", "TP53BP1", "CDCA5", "PDS5A", "PDS5B", "DDX11", "NIPBL"], "pfam_ids": ["PF02463", "PF06470"], "domain_descriptions": ["RecF/RecN/SMC", "N-terminal", "SMCs flexible hinge", "Structural maintenance of chromosomes protein", "P-loop containing nucleoside triphosphate hydrolase", "Smc1", "ATP-binding cassette domain", "SMCs flexible hinge superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000072501", "synonym": "DXS423E, KIAA0178, SB1.8, SMC1L1, SMCB", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Smc1a", "ortholog_c_elegans": "him-1", "ortholog_xenopus": "smc1a", "ortholog_zebrafish": "smc1a, smc1al", "ortholog_drosophila": "SMC1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 23.9, "sd_percent_ciliated": 23.9, "z_score": 23.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0079, "sd_percent_ciliated": -1.0079, "z_score": -1.0079, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMC3", "ensembl_id": "ENSG00000108055", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "structural maintenance of chromosomes 3 [Source:HGNC Symbol,Acc:HGNC:2468]", "omim_id": "606062", "functional_summary": "SMC1 and SMC3 to primary cilia in the reti as well as in cultured mammalian cells demonstrates that these proteins are also associated with ciliary (16043481).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "16043481, 17273969 ,17273969", "complex_components": ["RAD21", "SMC1A", "SMC3", "STAG1", "STAG2", "BAZ1A", "CHD3", "HDAC1", "HDAC2", "MBD2", "MBD3", "MTA1", "MTA2", "RBBP4", "RBBP7", "SMARCA5", "CDCA5", "PDS5A", "PDS5B", "DDX11", "USP13"], "pfam_ids": ["PF06470", "PF02463"], "domain_descriptions": ["RecF/RecN/SMC", "N-terminal", "SMCs flexible hinge", "Structural maintenance of chromosomes protein", "P-loop containing nucleoside triphosphate hydrolase", "SMCs flexible hinge superfamily", "Structural maintenance of chromosomes 3", "ABC domain", "eukaryotic"], "string_link": "https://string-db.org/network/9606/ENSG00000108055", "synonym": "BAM, BAMACAN, CSPG6, HCAP, SMC3L1", "ciliopathy": "Cornelia de Lange Syndrome", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Smc3", "ortholog_c_elegans": "smc-3", "ortholog_xenopus": "smc3", "ortholog_zebrafish": "smc3", "ortholog_drosophila": "SMC3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 19, "sd_percent_ciliated": 19, "z_score": 19, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5052, "sd_percent_ciliated": -3.5052, "z_score": -3.5052, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMCR8", "ensembl_id": "ENSG00000176994", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers/Reduced Cilia Number", "description": "SMCR8-C9orf72 complex subunit [Source:HGNC Symbol;Acc:HGNC:17921]", "omim_id": "617074", "functional_summary": "Immunofluorescence staining showed that the average incidence of spontaneous primary ciliogenesis was significantly higher in both C9KO cells and S8KO cells than in WT cells. Moreover, under serum-starvation conditions, the percentage of ciliated cells increased dramatically in C9KO cells and S8KO cells compared with WT cells . We also measured the primary cilium length in cells cultured with or without serum. Both C9KO and S8KO cells exhibited primary cilia with an increased average length. Consistently, overexpressing C9orf72 or SMCR8 inhibited primary ciliogenesis\" (PMID: 38064514)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Protein processing & maturation", "reference": "3.8064514E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000176994", "synonym": "DENND8A, FLJ34716", "ortholog_mouse": "Smcr8", "ortholog_c_elegans": "smcr-8", "ortholog_xenopus": "smcr8", "ortholog_zebrafish": "smcr8a, smcr8b", "screens": [] }, { "gene": "SMG1", "ensembl_id": "ENSG00000157106", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Source:HGNC Symbol,Acc:HGNC:30045]", "omim_id": "607032", "functional_summary": "Nonsense mutations in the SMG1 gene stabilize the misspliced transcripts in the ift mutants ( 29514868).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.9514868E7", "complex_components": ["ETF1", "GSPT1", "SMG1", "UPF1", "EIF4A3", "MAGOH", "RBM8A", "UPF2", "UPF3B", "SMG8", "SMG9"], "pfam_ids": ["PF00454", "PF17229", "PF15785", "PF02260"], "domain_descriptions": ["Phosphatidylinositol 3-/4-kinase", "catalytic domain", "FATC domain", "Protein kinase-like domain superfamily", "Armadillo-like helical", "PIK-related kinase", "Armadillo-type fold", "Phosphatidylinositol 3/4-kinase", "conserved site", "Serine/threonine-protein kinase SMG1", "Serine/threonine-protein kinase SMG1", "N-terminal", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily", "SMG1", "PIKK catalytic domain", "DNA Damage Response and Repair Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000157106", "synonym": "ATX, KIAA0421, LIP", "ortholog_mouse": "Smg1", "ortholog_c_elegans": "smg-1", "ortholog_xenopus": "smg1", "ortholog_zebrafish": "smg1", "ortholog_drosophila": "nonC", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.5734, "sd_percent_ciliated": 3.4318, "z_score": 1.1588, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.15, "sd_percent_ciliated": 1.15, "z_score": 1.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1506, "sd_percent_ciliated": -4.1506, "z_score": -4.1506, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMG5", "ensembl_id": "ENSG00000198952", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMG5 nonsense mediated mRNA decay factor [Source:HGNC Symbol,Acc:HGNC:24644]", "omim_id": "610962", "functional_summary": "SMG5 has localized in cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["HDAC8", "SMG5", "HSPA1A", "HSP90AA1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000198952", "synonym": "EST1B, KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5", "ortholog_mouse": "Smg5", "ortholog_xenopus": "smg5", "ortholog_zebrafish": "smg5", "ortholog_drosophila": "Smg5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.17, "sd_percent_ciliated": 3.17, "z_score": 3.17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7464, "sd_percent_ciliated": -0.7464, "z_score": -0.7464, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMG6", "ensembl_id": "ENSG00000070366", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMG6 nonsense mediated mRNA decay factor [Source:HGNC Symbol,Acc:HGNC:17809]", "omim_id": "610963", "functional_summary": "SMG6 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DKC1", "GAR1", "NHP2", "NOP10", "SMG6", "TERT", "WRAP53"], "pfam_ids": ["PF10374", "PF10373", "PF13638"], "domain_descriptions": ["PIN domain", "Tetratricopeptide-like helical domain superfamily", "DNA/RNA-binding domain", "Est1-type", "Telomerase activating protein Est1-like", "N-terminal", "PIN-like domain superfamily", "Est1/Ebs1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000070366", "synonym": "C17ORF31, EST1A, KIAA0732, SMG-6", "ortholog_mouse": "Smg6", "ortholog_c_elegans": "smg-6", "ortholog_xenopus": "smg6", "ortholog_zebrafish": "smg6", "ortholog_drosophila": "Smg6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.18, "sd_percent_ciliated": 2.18, "z_score": 2.18, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0476, "sd_percent_ciliated": 1.0476, "z_score": 1.0476, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMG7", "ensembl_id": "ENSG00000116698", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMG7 nonsense mediated mRNA decay factor [Source:HGNC Symbol,Acc:HGNC:16792]", "omim_id": "610964", "functional_summary": "SMG7 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000116698", "synonym": "C1ORF16, EST1C, KIAA0250, SGA56M, SMG-7", "ortholog_mouse": "Smg7", "ortholog_c_elegans": "smg-7", "ortholog_xenopus": "smg7", "ortholog_zebrafish": "smg7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0613, "sd_percent_ciliated": 0.0613, "z_score": 0.0613, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3938, "sd_percent_ciliated": -0.3938, "z_score": -0.3938, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMG8", "ensembl_id": "ENSG00000167447", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SMG8 nonsense mediated mRNA decay factor [Source:HGNC Symbol,Acc:HGNC:25551]", "omim_id": "613175", "functional_summary": "SMG8 has localized in cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["SMG1", "SMG8", "SMG9"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000167447", "synonym": "C17ORF71, FLJ10587, FLJ23205", "ortholog_mouse": "Smg8", "ortholog_c_elegans": "smg-8", "ortholog_xenopus": "smg8", "ortholog_zebrafish": "smg8", "ortholog_drosophila": "CG6729", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0935, "sd_percent_ciliated": 0.0935, "z_score": 0.0935, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -16.3305, "sd_percent_ciliated": -16.3305, "z_score": -16.3305, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SMO", "ensembl_id": "ENSG00000128602", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "smoothened, frizzled class receptor [Source:HGNC Symbol,Acc:HGNC:11119]", "omim_id": "601500", "functional_summary": "Translocates to the primary cilium membrane and activates downstream sig ling. It is enriched in cilia upon stimulation with Shh (17641202). Smo traslocation to the cilium results in Glis activation (28344083). Hh sig lling depends upon a Smo ciliary localization (16136078). Defect in Smo localisation results from defective retrograde transport (16229832). For instance, defects in intraflagellar transport components Ift27 and the BBSome, cause ciliary accumulation of Smo without pathway activation (32435793).", "localization": "cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, Axon guidance & growth", "reference": "19454479, 9452464, 35927022 ,35927022", "complex_components": ["SMO", "GAS8", "ARRB2"], "pfam_ids": ["PF01534", "PF01392"], "domain_descriptions": ["Frizzled/Smoothened", "7TM", "Frizzled/secreted frizzled-related protein", "GPCR", "family 2-like", "7TM", "Frizzled domain", "Smoothened", "7TM", "Frizzled cysteine-rich domain superfamily", "Smoothened", "cysteine-rich domain"], "string_link": "https://string-db.org/network/9606/ENSG00000128602", "synonym": "FZD11, SMOH", "ciliopathy": "Ellis-van Creveld Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Smo", "ortholog_xenopus": "smo", "ortholog_zebrafish": "smo", "ortholog_drosophila": "smo", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.9325, "z_score": -1.6921, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 18.9339, "z_score": -2.3111, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.3624 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 134, "z_score": 134, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 134 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7256, "z_score": -2.7256, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.7256 } ] }, { "gene": "SMYD2", "ensembl_id": "ENSG00000143499", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "SET and MYND domain containing 2 [Source:HGNC Symbol,Acc:HGNC:20982]", "omim_id": "610663", "functional_summary": "Depletion or inhibition of CDK4/6 and SMYD2 resulted in increased cilia assembly by affecting microtubule stability and the expression of IFT20(33127671).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.3127671E7", "complex_components": {}, "pfam_ids": ["PF01753", "PF00856"], "domain_descriptions": ["SET domain", "Zinc finger", "MYND-type", "Tetratricopeptide-like helical domain superfamily", "SMYD2", "SET domain", "SET domain superfamily", "Histone-lysine N-methyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000143499", "synonym": "HSKM-B, KMT3C, ZMYND14", "ortholog_mouse": "Smyd2", "ortholog_c_elegans": "set-14, set-18, set-30", "ortholog_xenopus": "smyd2", "ortholog_zebrafish": "smyd2a, smyd2b", "ortholog_drosophila": "Smyd3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.6582, "sd_percent_ciliated": 3.5843, "z_score": 0.1998, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.103, "sd_percent_ciliated": 0.103, "z_score": 0.103, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.4583, "sd_percent_ciliated": -8.4583, "z_score": -8.4583, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SNAP23", "ensembl_id": "ENSG00000092531", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "synaptosome associated protein 23 [Source:HGNC Symbol,Acc:HGNC:11131]", "omim_id": "602534", "functional_summary": "S P23 has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["SNAP23", "STX4", "VAMP1", "VAMP2", "STX11", "STX2", "STX6", "STX1A", "VAMP3", "VAMP8", "ADORA2B"], "pfam_ids": "PF00835", "domain_descriptions": ["Target SNARE coiled-coil homology domain", "SNAP-25 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000092531", "synonym": "HST17016, SNAP23A, SNAP23B", "ortholog_mouse": "Snap23", "ortholog_c_elegans": "ric-4", "ortholog_xenopus": "snap23", "ortholog_zebrafish": "snap23.1", "ortholog_drosophila": "Snap24, Snap25", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.9996, "sd_percent_ciliated": 2.0775, "z_score": -1.2127, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.89, "sd_percent_ciliated": 1.89, "z_score": 1.89, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6513, "sd_percent_ciliated": -4.6513, "z_score": -4.6513, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SNAP25", "ensembl_id": "ENSG00000132639", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "synaptosome associated protein 25 [Source:HGNC Symbol,Acc:HGNC:11132]", "omim_id": "600322", "functional_summary": "Regulate rhodopsin delivery, controls ciliogenesis through the expansion of the ciliary membrane and rod outer segments biogenesis (19454479). Potentially involved in membrane trafficking into the outer segment (9452464).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "25686250, 15968592, 21073448", "complex_components": ["HGS", "SNAP25", "STX12", "VAMP2", "CPLX1", "STX1A", "CPLX2", "RAB3A", "STX1B", "SYT1"], "pfam_ids": "PF00835", "domain_descriptions": ["Target SNARE coiled-coil homology domain", "SNAP-25 domain", "SNAP25", "N-terminal SNARE motif", "chordates"], "string_link": "https://string-db.org/network/9606/ENSG00000132639", "synonym": "BA416N4.2, DJ1068F16.2, RIC-4, RIC4, SEC9, SNAP, SNAP-25", "ortholog_mouse": "Snap25", "ortholog_c_elegans": "ric-4", "ortholog_xenopus": "snap25", "ortholog_zebrafish": "snap25a, snap25b", "ortholog_drosophila": "Snap24, Snap25", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.593, "sd_percent_ciliated": 0.5756, "z_score": -0.4139 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.414, "sd_percent_ciliated": 0.414, "z_score": 0.414 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0186, "sd_percent_ciliated": -3.0186, "z_score": -3.0186 } ] }, { "gene": "SNAP29", "ensembl_id": "ENSG00000099940", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "synaptosome associated protein 29 [Source:HGNC Symbol,Acc:HGNC:11133]", "omim_id": "604202", "functional_summary": "S RE membrane fusion regulator that binds to EHD1 and EHD3. This interaction is required for assembly of ciliary vesicle from small distal appendage vesicles (25686250). Role in Golgi trafficking and vesicle fusion. Mutations cause CEDNIK syndrome (15968592, 21073448).", "localization": "basal body, Autophagosomes, Centrosome, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation, Ciliary membrane", "reference": "2.1844891E7", "complex_components": ["SNAP29", "STX1A"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000099940", "synonym": "CEDNIK, SNAP-29", "ortholog_mouse": "Snap29", "ortholog_c_elegans": "snap-29", "ortholog_xenopus": "snap29", "ortholog_zebrafish": "snap29", "ortholog_drosophila": "Snap29", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.6104, "sd_percent_ciliated": 14.0239, "z_score": 0.4363 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.1125, "sd_percent_ciliated": -4.1125, "z_score": -4.1125 } ] }, { "gene": "SNRNP200", "ensembl_id": "ENSG00000144028", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "small nuclear ribonucleoprotein U5 subunit 200 [Source:HGNC Symbol,Acc:HGNC:30859]", "omim_id": "601664", "functional_summary": "SNRNP200 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Metabolism", "reference": "https://doi.org/10.1101/2024.10.20.619273, 19878916 ,19878916", "complex_components": ["ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8", "ABCF2", "DDB1", "EEF1A1", "EEF1G", "HSPA5", "MATR3", "MSH2", "PFKL", "SFPQ", "TUBB", "UBR5", "BCAS2", "BUD31", "CASC3", "CWC25", "PPIG", "YJU2", "LSM4", "LSM5", "LSM6", "LSM7", "LSM8", "PHF5A", "PRPF3", "PRPF31", "PRPF4", "SF3B4", "SF3B5", "SF3B6", "SNU13", "TXNL4A", "USP39", "MFAP1", "PPIH", "PRPF38A", "SMU1", "UBL5", "WBP4", "ZMAT2", "ACIN1", "AGGF1", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "DDX17", "DDX42", "DDX46", "DHX15", "DHX9", "DNAJC8", "ELAVL1", "FUS", "HNRNPAB", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF40A", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RNPS1", "SAP30BP", "SEC31B", "SF1", "SMNDC1", "SNRNP70", "SNRPA", "SNRPC", "SRRT", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "TCERG1", "TRA2B", "TRIR", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207", "ACTBL2", "ACTL6A", "ARID1A", "ARID1B", "ARID2", "CHD4", "CHD8", "CPSF1", "CPSF6", "CPSF7", "DDX20", "DDX39A", "DDX39B", "GEMIN2", "GEMIN4", "GEMIN5", "GEMIN6", "GEMIN8", "HNRNPA0", "HNRNPD", "HNRNPL", "KHSRP", "LUC7L2", "LUC7L3", "NUDT21", "PBRM1", "PCBP2", "RBM42", "RBM7", "RBMXL2", "RUVBL1", "RUVBL2", "SART3", "SCAF4", "SFSWAP", "SMARCA1", "SMARCA2", "SMARCA4", "SMARCB1", "SMARCC1", "SMARCC2", "SMARCD1", "SMARCE1", "SMN1", "SREK1", "SRSF11", "SRSF8", "STRAP"], "pfam_ids": ["PF18149", "PF00270", "PF00271", "PF23445", "PF02889", "PF21188"], "domain_descriptions": ["Helicase", "C-terminal domain-like", "Sec63 domain", "DEAD/DEAH box helicase domain", "Helicase superfamily 1/2", "ATP-binding domain", "Immunoglobulin E-set", "P-loop containing nucleoside triphosphate hydrolase", "C2 domain superfamily", "Winged helix-like DNA-binding domain superfamily", "Winged helix DNA-binding domain superfamily", "Brr2", "N-terminal helicase PWI domain", "Pre-mRNA-splicing helicase BRR2-like", "plug domain", "Helicase Hel308/SKI2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000144028", "synonym": "ASCC3L1, BRR2, HELIC2, KIAA0788, RP33, U5-200KD", "ciliopathy": "Retinitis Pigmentosa", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Snrnp200", "ortholog_c_elegans": "snrp-200", "ortholog_xenopus": "snrnp200", "ortholog_zebrafish": "snrnp200", "ortholog_drosophila": "Brr2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 16, "sd_percent_ciliated": 16, "z_score": 16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -16.2394, "sd_percent_ciliated": -16.2394, "z_score": -16.2394, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SNTB2", "ensembl_id": "ENSG00000168807", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "syntrophin beta 2 [Source:HGNC Symbol,Acc:HGNC:11169]", "omim_id": "600027", "functional_summary": "SNTB2 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ADRA1D", "SNTB2", "ABCA1", "UGP2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000168807", "synonym": "D16S2531E, EST25263, SNT2B2, SNT3, SNTL", "ortholog_mouse": "Sntb2", "ortholog_c_elegans": "stn-1", "ortholog_xenopus": "sntb2", "ortholog_zebrafish": "sntb2", "ortholog_drosophila": "Syn1", "screens": {} }, { "gene": "SNTN", "ensembl_id": "ENSG00000188817", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sentan, cilia apical structure protein [Source:HGNC Symbol,Acc:HGNC:33706]", "omim_id": "617832", "functional_summary": "SNTN was localized at the tips of multiple cilia(26724905).", "localization": "cilia, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.6724905E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000188817", "synonym": "FLJ44379, S100AL", "ortholog_mouse": "Sntn", "ortholog_xenopus": "sntn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.06, "sd_percent_ciliated": 1.06, "z_score": 1.06, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.4113, "sd_percent_ciliated": 2.4113, "z_score": 2.4113, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SNX10", "ensembl_id": "ENSG00000086300", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "sorting nexin 10 [Source:HGNC Symbol,Acc:HGNC:14974]", "omim_id": "614780", "functional_summary": "Required for the formation of primary cilia and essential for left-right patterning of visceral organs. Binds to V-ATPase to regulate its centrosomal trafficking and Rab8a vesicle trafficking to the ciliary membrane. Those events are crucial for ciliogenesis (21844891).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Protein processing & maturation, Ciliary membrane", "reference": "3.1671755E7", "complex_components": {}, "pfam_ids": "PF00787", "domain_descriptions": ["Phox homology", "PX domain superfamily", "Sorting nexin-10/11"], "string_link": "https://string-db.org/network/9606/ENSG00000086300", "ortholog_mouse": "Snx10", "ortholog_xenopus": "snx10", "ortholog_zebrafish": "snx10a, snx10b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.3288, "sd_percent_ciliated": 1.9377, "z_score": -0.8094 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.46, "sd_percent_ciliated": 3.46, "z_score": 3.46 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.591, "sd_percent_ciliated": -3.591, "z_score": -3.591 } ] }, { "gene": "SNX17", "ensembl_id": "ENSG00000115234", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "sorting nexin 17 [Source:HGNC Symbol,Acc:HGNC:14979]", "omim_id": "605963", "functional_summary": "SNX17 functions in early stages of ciliogenesis. Regulates the homeostasis of centriolar satellite proteins including PCM1, CEP131, and OFD1 during serum starvation induced ciliogenesis. Recruits USP9X to antagonise MIB1-induced degradation of PCM1, maintaining the integrity of centriolar satellites. SNX17 deficiency leads degradation of USP9X and PCM1, and disrupts ciliogenesis upon serum starvation (31671755).", "localization": "cilia, flagella, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "19604394, 15034007, 15257753", "complex_components": {}, "pfam_ids": ["PF21273", "PF21271", "PF18116", "PF00787"], "domain_descriptions": ["Ras-associating domain", "Phox homology", "PH-like domain superfamily", "Sorting nexin-17", "FERM domain", "N-terminal subdomain", "PX domain superfamily", "SNX17", "atypical FERM-like domain", "Sorting nexin-17/31", "FERM domain", "Sortin nexin 17/31", "FERM domain", "F1 lobe", "Sortin nexin 17/31", "FERM domain", "F2 lobe"], "string_link": "https://string-db.org/network/9606/ENSG00000115234", "synonym": "KIAA0064", "ortholog_mouse": "Snx17", "ortholog_c_elegans": "snx-17", "ortholog_xenopus": "snx17", "ortholog_zebrafish": "snx17", "ortholog_drosophila": "Snx17", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.4155, "sd_percent_ciliated": 8.2619, "z_score": -0.6777 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.4, "sd_percent_ciliated": 4.4, "z_score": 4.4 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.5868, "sd_percent_ciliated": -1.5868, "z_score": -1.5868 } ] }, { "gene": "SON", "ensembl_id": "ENSG00000159140", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "SON DNA and RNA binding protein [Source:HGNC Symbol;Acc:HGNC:11183]", "omim_id": "182465", "functional_summary": "The impact of mRNA splicing on cilia assembly after mitosis of the cell cycle. Splicing regulators SON and XAB2 play an important role in mitosis exit, and thus affect ciliogenesis in G1/G0 phases. The pivotal role of mRNA splicing regulators in cilia assembly and underscores the importance of mitotic regulation in ciliogenesis(PMID: 30460047).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.0460047E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000159140", "synonym": "BASS1; C21ORF50; DBP-5; FLJ21099; FLJ33914; KIAA1019; NREBP", "ortholog_mouse": "Son", "ortholog_c_elegans": "D1037.1", "ortholog_xenopus": "son", "ortholog_zebrafish": "sona", "ortholog_drosophila": "Son", "screens": [] }, { "gene": "SORD", "ensembl_id": "ENSG00000140263", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sorbitol dehydrogenase [Source:HGNC Symbol,Acc:HGNC:11184]", "omim_id": "182500", "functional_summary": "SORD has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF08240", "PF00107"], "domain_descriptions": ["Alcohol dehydrogenase", "zinc-type", "conserved site", "GroES-like superfamily", "Alcohol dehydrogenase-like", "C-terminal", "Alcohol dehydrogenase-like", "N-terminal", "Polyketide synthase", "enoylreductase domain", "NAD(P)-binding domain superfamily", "Sorbitol dehydrogenase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000140263", "ortholog_mouse": "Sord", "ortholog_c_elegans": "R04B5.5, R04B5.6", "ortholog_xenopus": "sord", "ortholog_zebrafish": "sord", "ortholog_drosophila": "Sord1, Sord2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.9845, "sd_percent_ciliated": 0.0443, "z_score": 1.2086 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.7, "sd_percent_ciliated": 7.7, "z_score": 7.7 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.6133, "sd_percent_ciliated": -1.6133, "z_score": -1.6133 } ] }, { "gene": "SOX10", "ensembl_id": "ENSG00000100146", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SRY-box transcription factor 10 [Source:HGNC Symbol,Acc:HGNC:11190]", "omim_id": "602229", "functional_summary": "Mutations in the SOX10 gene cause Kallmann syndrome (PMID: 33597923).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Transcription regulation", "reference": "33597923 ,33597923", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000100146", "synonym": "DOM, SOX-10, WS2E, WS4", "ciliopathy": "Kallmann syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sox10", "ortholog_xenopus": "sox10", "ortholog_zebrafish": "sox10", "ortholog_drosophila": "Sox100B", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.9115, "sd_percent_ciliated": 3.6534, "z_score": 0.1093, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.77, "sd_percent_ciliated": 0.77, "z_score": 0.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SOX2", "ensembl_id": "ENSG00000181449", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SRY-box transcription factor 2 [Source:HGNC Symbol,Acc:HGNC:11195]", "omim_id": "184429", "functional_summary": "Sox2 activated promoter-luciferase reporter constructs for differentiation markers characteristic of Clara, ciliated, and goblet cells, Scgb1a1, FoxJ1, and Agr2, respectively ( 20011520).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Transcription regulation", "reference": "2.001152E7", "complex_components": ["POU5F1", "SOX2", "POU2F1", "PAX6", "VRK1"], "pfam_ids": ["PF00505", "PF12336"], "domain_descriptions": ["High mobility group box domain", "Transcription factor SOX", "High mobility group box domain superfamily", "SRY-related HMG-box transcription factor-like"], "string_link": "https://string-db.org/network/9606/ENSG00000181449", "ortholog_mouse": "Sox2", "ortholog_c_elegans": "sox-2", "ortholog_xenopus": "sox2", "ortholog_zebrafish": "sox2", "ortholog_drosophila": "D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.6953, "sd_percent_ciliated": 0.6551, "z_score": -0.765 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2705, "sd_percent_ciliated": 0.2705, "z_score": 0.2705 } ] }, { "gene": "SOX5", "ensembl_id": "ENSG00000134532", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SRY-box transcription factor 5 [Source:HGNC Symbol,Acc:HGNC:11201]", "omim_id": "604975", "functional_summary": "SPAG6 is a S-SOX5 target gene, indicating a key role for S-SOX5 in the formation and function of motile cilia ( 20668334).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, ECM & connective tissue, Transcription regulation", "reference": "2.0668334E7", "complex_components": {}, "pfam_ids": "PF00505", "domain_descriptions": ["High mobility group box domain", "High mobility group box domain superfamily", "SOX/SOX-like transcription factors"], "string_link": "https://string-db.org/network/9606/ENSG00000134532", "synonym": "L-SOX5, MGC35153", "ortholog_mouse": "Sox5", "ortholog_c_elegans": "egl-13", "ortholog_xenopus": "sox5", "ortholog_zebrafish": "sox5", "ortholog_drosophila": "Sox102F", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.8173, "sd_percent_ciliated": 0.4604, "z_score": -0.7502 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6883, "sd_percent_ciliated": 0.6883, "z_score": 0.6883 } ] }, { "gene": "SP1", "ensembl_id": "ENSG00000185591", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Sp1 transcription factor [Source:HGNC Symbol,Acc:HGNC:11205]", "omim_id": "189906", "functional_summary": "SP1 is a pivotal transcription factor for the regulation of CEP131 expression, consequently leading the control of centrosome functions ( 23137637).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.3137637E7", "complex_components": ["ATF7IP2", "SP1", "TP53", "SMAD3", "SMAD4", "ASH2L", "HCFC1", "HDAC1", "HDAC2", "HSP90AA1", "HSPA4", "HSPA5", "HSPA8", "OGT", "RBBP4", "RBBP7", "SAP30", "SETD1A", "SIN3A", "SIN3B", "SUDS3", "WDR5", "E2f2", "E2f3", "ESR1", "HINT1", "NFKB2", "RELA", "CREBBP", "EP300", "SP3", "MYCN", "ZBTB17", "AR"], "pfam_ids": "PF00096", "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000185591", "ortholog_mouse": "Sp1", "ortholog_c_elegans": "sptf-3", "ortholog_xenopus": "sp1", "ortholog_zebrafish": "sp1", "ortholog_drosophila": "Spps", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.7755, "sd_percent_ciliated": 5.4481, "z_score": -0.8764 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 7.8, "sd_percent_ciliated": 7.8, "z_score": 7.8 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.1609, "sd_percent_ciliated": -5.1609, "z_score": -5.1609 } ] }, { "gene": "SP5", "ensembl_id": "ENSG00000204335", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "Sp5 transcription factor [Source:HGNC Symbol,Acc:HGNC:14529]", "omim_id": "609391", "functional_summary": "TFs SP5 and SP8 regulate cilia formation and gene expression. In embryos lacking Sp5 and Sp8, primary and motile cilia were shorter than normal and reduced in number across cell types, contributing to situs inversus and hydrocephalus(PMID: 40875857).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "4.0875857E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000204335", "ortholog_mouse": "Sp5", "ortholog_c_elegans": "sptf-2, sptf-3", "ortholog_xenopus": "sp5, sp5l", "ortholog_zebrafish": "sp5a, sp5b, sp5l", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.0386, "sd_percent_ciliated": 4.7687, "z_score": -0.3599 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.085, "sd_percent_ciliated": -2.085, "z_score": -2.085 } ] }, { "gene": "SP8", "ensembl_id": "ENSG00000164651", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Increased", "description": "Sp8 transcription factor [Source:HGNC Symbol,Acc:HGNC:19196]", "omim_id": "608306", "functional_summary": "TFs SP5 and SP8 regulate cilia formation and gene expression. In embryos lacking Sp5 and Sp8, primary and motile cilia were shorter than normal and reduced in number across cell types, contributing to situs inversus and hydrocephalus(PMID: 40875857).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "4.0875857E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000164651", "ortholog_mouse": "Sp8", "ortholog_c_elegans": "sptf-1", "ortholog_xenopus": "sp8", "ortholog_zebrafish": "sp8a, sp8b", "ortholog_drosophila": "Sp1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.896, "z_score": 0.7522, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 54.7816, "z_score": 2.0321, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 11.262 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.883, "z_score": -3.883, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.883 } ] }, { "gene": "SPA17", "ensembl_id": "ENSG00000064199", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "No effect", "description": "sperm autoantigenic protein 17 [Source:HGNC Symbol,Acc:HGNC:11210]", "functional_summary": "Regulatory role in a PKA- independent AKAP complex in both germi l cells and somatic ciliated epithelia. It may also play a role in cell motility (19604394, 15034007). Binds the RII binding domain of AKAP3 along the length of the flagella (15257753).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Cell migration & adhesion", "reference": "2.4055112E7", "complex_components": {}, "pfam_ids": ["PF00612", "PF02197"], "domain_descriptions": ["IQ motif", "EF-hand binding site", "cAMP-dependent protein kinase regulatory subunit", "dimerization-anchoring domain", "Sperm surface protein Sp17", "CABYR/SP17", "dimerization domain"], "string_link": "https://string-db.org/network/9606/ENSG00000064199", "synonym": "CT22, SP17", "ortholog_mouse": "Spa17", "ortholog_c_elegans": "F39H12.3", "ortholog_xenopus": "spa17", "ortholog_zebrafish": "spa17", "ortholog_drosophila": "igl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.0035, "sd_percent_ciliated": 5.047, "z_score": -0.4853 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.823, "sd_percent_ciliated": 0.823, "z_score": 0.823 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.1726, "sd_percent_ciliated": 1.1726, "z_score": 1.1726 } ] }, { "gene": "SPACA7", "ensembl_id": "ENSG00000153498", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm acrosome associated 7 [Source:HGNC Symbol,Acc:HGNC:29575]", "functional_summary": "SPACA7 has localized in flagella.", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000153498", "synonym": "C13ORF28", "ortholog_mouse": "Spaca7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.889, "sd_percent_ciliated": 0.889, "z_score": 0.889, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2025, "sd_percent_ciliated": -0.2025, "z_score": -0.2025, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPACA9", "ensembl_id": "ENSG00000165698", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm acrosome associated 9 [Source:HGNC Symbol,Acc:HGNC:1367]", "omim_id": "618552", "functional_summary": "SPACA9 is a polyspecific microtubule inner proteinscapable of binding both microtubule types. SPACA9 forms intralume l striations in the B tubule of respiratory doublet and noncontinuous spirals in sperm singlet (36191189).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "3.6191189E7", "complex_components": {}, "pfam_ids": "PF15120", "domain_descriptions": "Sperm acrosome-associated protein 9", "string_link": "https://string-db.org/network/9606/ENSG00000165698", "synonym": "C9ORF9, MAST", "ortholog_mouse": "Spaca9", "ortholog_xenopus": "spaca9", "ortholog_zebrafish": "spaca9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.553, "sd_percent_ciliated": 0.553, "z_score": 0.553, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SPAG1", "ensembl_id": "ENSG00000104450", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm associated antigen 1 [Source:HGNC Symbol,Acc:HGNC:11212]", "omim_id": "603395", "functional_summary": "Possible role in the cytoplasmic assembly and/or trafficking of the ciliary dynein arms. Mutations have been reported in patients with PCD with ODA and IDA defects, severe ciliary dysmotility and laterality defects (24055112).", "localization": "cilia, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation, Cell migration & adhesion", "reference": "16382026, 17699735, 21655194, 28137312, 24055112 ,24055112", "complex_components": ["DNAAF2", "DNAAF5", "SPAG1"], "pfam_ids": ["PF13181", "PF13877", "PF00515"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Ciliary Assembly and Mitochondrial Import", "RNA-polymerase II-associated protein 3-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000104450", "synonym": "CILD28, CT140, DNAAF13, FLJ32920, HSD-3.8, SP75, TPIS", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spag1", "ortholog_c_elegans": "rpap-3", "ortholog_xenopus": "spag1", "ortholog_zebrafish": "spag1a, spag1b", "ortholog_drosophila": "Spag1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.8944, "z_score": 1.0639, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 57.4327, "z_score": 2.3533, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 5.2428 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.51, "z_score": 1.51, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.51 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.8838, "z_score": -9.8838, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -9.8838 } ] }, { "gene": "SPAG16", "ensembl_id": "ENSG00000144451", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm associated antigen 16 [Source:HGNC Symbol,Acc:HGNC:23225]", "omim_id": "612173", "functional_summary": "Orthologue of Chlamydomo s reinhardtii PF20, known to be essential to the structure and function of the motile axoneme. Encodes two proteins, SPAG16L and SPAG16S. SPAG16L is essential for sperm flagellar motility. Interacts with SPAG6, which in turn interacts with SPAG17. Mutation results in instability of interacting proteins in the central pair of the sperm axoneme. (16382026, 17699735). SPAG16S, identified only in male germ cells, plays a role in the gene expression machinery of male germ cells required for spermatogenesis, and it also modulates Spag16L mR expression (21655194). Transcription of SPAG16 is regulated through S-SOX5 binding to the promoter (28137312).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Transcription regulation", "reference": "23418344, 32988999, 29690537, 34445527 ,34445527; 30911868", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat and F-box domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000144451", "synonym": "DKFZP666P1710, FLJ22724, PF20, WDR29", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spag16", "ortholog_xenopus": "spag16", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0094, "sd_percent_ciliated": 0.0094, "z_score": 0.0094, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6749, "sd_percent_ciliated": -0.6749, "z_score": -0.6749, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPAG17", "ensembl_id": "ENSG00000155761", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "sperm associated antigen 17 [Source:HGNC Symbol,Acc:HGNC:26620]", "omim_id": "616554", "functional_summary": "Encodes a central pair protein present motile cilia or flagella with a 鈥", "localization": "cilia , transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Transition zone", "reference": "12167721, 25333478, 32124190 ,32988999, 23418344", "complex_components": {}, "pfam_ids": "PF14874", "domain_descriptions": "Sperm-associated antigen 17", "string_link": "https://string-db.org/network/9606/ENSG00000155761", "synonym": "CT143, FLJ34497, PF6, RP4-776P7.2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spag17", "ortholog_xenopus": "spag17", "ortholog_zebrafish": "spag17", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.256, "sd_percent_ciliated": 0.256, "z_score": 0.256, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.8358, "sd_percent_ciliated": -1.8358, "z_score": -1.8358, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPAG6", "ensembl_id": "ENSG00000077327", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "sperm associated antigen 6 [Source:HGNC Symbol,Acc:HGNC:11215]", "omim_id": "605730", "functional_summary": "Orthologue of Chlamydomo s PF16. Axoneme central apparatus protein, essential for sperm flagellar motility and motility of ependymal cilia, as well as mainte nce of the structural integrity of the sperm flagella by serving as a scaffold protein (12167721). Role in ciliogenesis, axoneme orientation, and cell polarity. Spag6-deficient epithelial cells in the brain and trachea lose rotatio l polarity and Spag6-eficient mice suffer hydrocephalus and are sterile because of sperm motility defects (25333478). Mutated in PCD with male infertility with severe asthenoteratospermia (32124190)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "19268277, 30647131, 29899041, 32124190 ,32124190", "complex_components": {}, "pfam_ids": "PF00514", "domain_descriptions": ["Armadillo", "Armadillo-like helical", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000077327", "synonym": "CFAP194, CT141, FAP194, PF16, REPRO-SA-1", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spag6, Spag6l", "ortholog_xenopus": "spag6", "ortholog_zebrafish": "spag6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.0519, "sd_percent_ciliated": 2.3876, "z_score": 0.0052, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.147, "sd_percent_ciliated": 0.147, "z_score": 0.147, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6474, "sd_percent_ciliated": 0.6474, "z_score": 0.6474, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPAG8", "ensembl_id": "ENSG00000137098", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm associated antigen 8 [Source:HGNC Symbol,Acc:HGNC:14105]", "omim_id": "605731", "functional_summary": "SPAG8 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF22584", "domain_descriptions": "Sperm-associated antigen 8", "string_link": "https://string-db.org/network/9606/ENSG00000137098", "synonym": "BS-84, CT142, HSD-1, HSMP-1, SPAG3", "ortholog_mouse": "Spag8", "ortholog_xenopus": "spag8", "ortholog_zebrafish": "spag8", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.1088, "sd_percent_ciliated": 1.0819, "z_score": -1.4418 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.968, "sd_percent_ciliated": 0.968, "z_score": 0.968 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.612, "sd_percent_ciliated": -1.612, "z_score": -1.612 } ] }, { "gene": "SPATA20", "ensembl_id": "ENSG00000006282", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "spermatogenesis associated 20 [Source:HGNC Symbol,Acc:HGNC:26125]", "omim_id": "613939", "functional_summary": "SPATA20 has localized in flagella.", "localization": "flagella, Mitochondria, Lysosomes", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF03190", "domain_descriptions": ["Spermatogenesis-associated protein 20-like", "TRX domain", "Six-hairpin glycosidase superfamily", "Six-hairpin glycosidase-like superfamily", "Spermatogenesis-associated protein 20", "Thioredoxin-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000006282", "synonym": "FLJ21347, SSP411, TISP78", "ortholog_mouse": "Spata20", "ortholog_c_elegans": "B0495.5", "ortholog_xenopus": "spata20", "ortholog_zebrafish": "spata20", "ortholog_drosophila": "CG8613", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.366, "sd_percent_ciliated": 0.366, "z_score": 0.366, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2062, "sd_percent_ciliated": -2.2062, "z_score": -2.2062, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPATA31F1", "ensembl_id": "ENSG00000205108", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SPATA31 subfamily F member 1 [Source:HGNC Symbol,Acc:HGNC:41911]", "functional_summary": "FAM205A has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF14650", "PF15371"], "domain_descriptions": ["SPATA31F3-like", "SPATA31"], "string_link": "https://string-db.org/network/9606/ENSG00000205108", "synonym": "C9ORF144B, FAM205A", "ortholog_mouse": "Spata31f1a, Spata31f1b, Spata31f1c, Spata31f1d", "screens": {} }, { "gene": "SPATA4", "ensembl_id": "ENSG00000150628", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Decreased", "description": "spermatogenesis associated 4 [Source:HGNC Symbol,Acc:HGNC:17333]", "omim_id": "609879", "functional_summary": "Knockdown of SPATA4 causes few cells to build a cilium ( 23604077).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "23604077 ,23604077", "complex_components": {}, "pfam_ids": "PF06294", "domain_descriptions": ["Calponin homology domain", "CH-like domain in sperm protein", "CH domain superfamily", "Spermatogenesis and Ciliary Microtubule-associated Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000150628", "synonym": "CFAP178, FAP178, SPEF1B, TSARG2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spata4", "ortholog_xenopus": "spata4", "ortholog_zebrafish": "spata4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.5103, "sd_percent_ciliated": 11.4148, "z_score": -1.272, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.343, "sd_percent_ciliated": 0.343, "z_score": 0.343, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2517, "sd_percent_ciliated": -4.2517, "z_score": -4.2517, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPATA7", "ensembl_id": "ENSG00000042317", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "spermatogenesis associated 7 [Source:HGNC Symbol,Acc:HGNC:20423]", "omim_id": "609868", "functional_summary": "Expressed in spermatocytes and in the mature reti . Mutations have been associated with Leber Congenital Amaurosis and Retinitis Pigmentosa (19268277). Component of a protein complex which interacts with CETN2 and CETN3 to stabilise the photoreceptor distal connecting cilium and proximal OS axoneme (30647131). Interacts with photoreceptor-specific ciliary proteins RPGR and RPGRIP1 to maintain distal connecting cilium (DCC) structure, it also regulares protein localization into the DCC (29899041).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "29514918, 30535028, 21310915 ,21310915", "complex_components": ["RPGRIP1", "SPATA7", "CFAP410", "NEK1"], "pfam_ids": "PF15244", "domain_descriptions": "Spermatogenesis-associated protein 7", "string_link": "https://string-db.org/network/9606/ENSG00000042317", "synonym": "HSD3, LCA3", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spata7", "ortholog_xenopus": "LOC100493599, spata7", "ortholog_zebrafish": "spata7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.569, "sd_percent_ciliated": 2.003, "z_score": -0.6591, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0344, "sd_percent_ciliated": 0.0344, "z_score": 0.0344, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6708, "sd_percent_ciliated": -0.6708, "z_score": -0.6708, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPEF1", "ensembl_id": "ENSG00000101222", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm flagellar 1 [Source:HGNC Symbol,Acc:HGNC:15874]", "omim_id": "610674", "functional_summary": "Also known as CLAMP. Regulator of PCP sig ling, via localisation of asymmetric PCP components and regulates asymmetric microtubule accumulation. Required for proper PCP- dependent establishment of cilia polarity (29514918). Microtubule- bundling protein, and central pair MT regulator highly expressed in 9 + 2 mammalian cilia. Essential for the assembly and functions of central pair MTs, central pair apparatus, and for ciliary retentions of other central pair proteins such as Spag6 and Hydin (30535028).", "localization": "flagella, basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "19889948, 21715716, 31545650, 31942643 ,30535028", "complex_components": {}, "pfam_ids": "PF06294", "domain_descriptions": ["Calponin homology domain", "CH-like domain in sperm protein", "CH domain superfamily", "Spermatogenesis and Ciliary Microtubule-associated Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000101222", "synonym": "C20ORF28, CLAMP, DKFZP434I114, SPEF1A", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spef1", "ortholog_xenopus": "spef1", "ortholog_zebrafish": "spef1", "ortholog_drosophila": "CG12395, CG16719", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.409, "sd_percent_ciliated": 0.409, "z_score": 0.409, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.5202, "sd_percent_ciliated": -4.5202, "z_score": -4.5202, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPEF2", "ensembl_id": "ENSG00000152582", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm flagellar 2 [Source:HGNC Symbol,Acc:HGNC:26293]", "omim_id": "610172", "functional_summary": "Essential for correct sperm tail development and male fertility. Interacts with intraflagellar transport protein IFT20. Mutation in SPEF2 was identified as a cause for immotile short tail sperm in pigs (19889948). Required for ciliary motility and spermatogenesis. In mouse, loss of SPEF2 function results in PCD with severe spermatogenic defects (21715716). Functio l defects also lead to PCD due to a defect of the central pair complex. Interacts with HYDIN, which regulates assembly of SPEF2 to the ciliary axoneme, as it cannot be detected in the axonemes of HYDIN-mutant cells (31545650). Required for the flagellar assembly of central pair complex and peri- axonemal structure in humans (31942643).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "25904332, 21715716, 31545650 ,21715716, 31545650; 10100999, 31545650", "complex_components": ["BAZ1B", "DDX21", "DEK", "ERCC6", "MYBBP1A", "MYO1C", "SF3B1", "SMARCA5", "SPEF2"], "pfam_ids": ["PF06294", "PF22946", "PF00406", "PF24082"], "domain_descriptions": ["Calponin homology domain", "CH-like domain in sperm protein", "CH domain superfamily", "Sperm flagellar development and bone growth associated protein", "CPC1/SPEF2 domain D5", "P-loop containing nucleoside triphosphate hydrolase", "Zinc finger", "TTF-type", "Ribonuclease H-like superfamily", "EF-hand domain pair", "SPEF2", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000152582", "synonym": "CT122, FLJ23577, KPL2", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Spef2", "ortholog_xenopus": "spef2", "ortholog_zebrafish": "spef2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.296, "sd_percent_ciliated": -1.296, "z_score": -1.296, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPG11", "ensembl_id": "ENSG00000104133", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SPG11 vesicle trafficking associated, spatacsin [Source:HGNC Symbol,Acc:HGNC:11226]", "omim_id": "610844", "functional_summary": "Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419).", "localization": "cilia, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cardiac & muscle development", "reference": "3.8100419E7", "complex_components": ["AP5B1", "AP5M1", "AP5S1", "AP5Z1", "SPG11", "ZFYVE26"], "pfam_ids": "PF14649", "domain_descriptions": ["Spatacsin", "Spatacsin", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000104133", "synonym": "ALS5, FLJ21439, KIAA1840", "ortholog_mouse": "Spg11", "ortholog_xenopus": "spg11", "ortholog_zebrafish": "spg11", "ortholog_drosophila": "CG13531", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SPHK1", "ensembl_id": "ENSG00000176170", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sphingosine kinase 1 [Source:HGNC Symbol,Acc:HGNC:11240]", "omim_id": "603730", "functional_summary": "SPHK1 localized at cilia", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00781", "domain_descriptions": ["Diacylglycerol kinase", "catalytic domain", "NAD kinase/diacylglycerol kinase-like domain superfamily", "Inorganic polyphosphate/ATP-NAD kinase", "N-terminal", "Lipid Phosphate Formation and Regulation"], "string_link": "https://string-db.org/network/9606/ENSG00000176170", "synonym": "SPHK", "ortholog_mouse": "Sphk1", "ortholog_c_elegans": "sphk-1", "ortholog_xenopus": "sphk1", "ortholog_drosophila": "Sk1, Sk2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.0023, "sd_percent_ciliated": 3.426, "z_score": 0.6049, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0392, "sd_percent_ciliated": 0.0392, "z_score": 0.0392, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1637, "sd_percent_ciliated": -3.1637, "z_score": -3.1637, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPICE1", "ensembl_id": "ENSG00000163611", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "spindle and centriole associated protein 1 [Source:HGNC Symbol,Acc:HGNC:25083]", "omim_id": "613447", "functional_summary": "SPICE1 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15678", "domain_descriptions": "Spindle and centriole-associated protein 1", "string_link": "https://string-db.org/network/9606/ENSG00000163611", "synonym": "CCDC52, SPICE", "ortholog_mouse": "Spice1", "ortholog_xenopus": "spice1", "ortholog_zebrafish": "spice1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0347, "sd_percent_ciliated": 0.0347, "z_score": 0.0347, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.8554, "sd_percent_ciliated": -2.8554, "z_score": -2.8554, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SPMAP2", "ensembl_id": "ENSG00000105549", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule associated protein 2 [Source:HGNC Symbol,Acc:HGNC:13706]", "omim_id": "609503", "functional_summary": "THEG has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14912", "domain_descriptions": ["Testicular haploid expressed repeat", "Sperm microtubule associated protein 2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000105549", "synonym": "CT56, THEG, THEG1", "ortholog_mouse": "Spmap2", "ortholog_xenopus": "theg", "ortholog_zebrafish": "spmap2", "ortholog_drosophila": "Theg", "screens": {} }, { "gene": "SPMIP10", "ensembl_id": "ENSG00000196900", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule inner protein 10 [Source:HGNC Symbol,Acc:HGNC:33767]", "functional_summary": "TEX43 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14983", "domain_descriptions": "Sperm-associated microtubule inner protein 10", "string_link": "https://string-db.org/network/9606/ENSG00000196900", "synonym": "C5ORF48, FLJ27505, MGC163367, MGC163369, TEX43, TSEG7", "ortholog_mouse": "Spmip10", "ortholog_xenopus": "spmip10", "screens": {} }, { "gene": "SPMIP2", "ensembl_id": "ENSG00000164123", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule inner protein 2 [Source:HGNC Symbol,Acc:HGNC:26342]", "functional_summary": "C4orf45 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15123", "domain_descriptions": "Protein of Not Reported function DUF4562", "string_link": "https://string-db.org/network/9606/ENSG00000164123", "synonym": "C4ORF45, FLJ25371", "ortholog_mouse": "Spmip2", "ortholog_xenopus": "spmip2", "screens": {} }, { "gene": "SPMIP4", "ensembl_id": "ENSG00000153790", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule inner protein 4 [Source:HGNC Symbol,Acc:HGNC:21722]", "omim_id": "616071", "functional_summary": "CCDC113, CCDC96, C4orf47, CCDC38, C7orf31, CCDC146, CCDC81 and CCDC116 as centrosome-associated proteins(25074808).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "2.5074808E7", "complex_components": {}, "pfam_ids": "PF15093", "domain_descriptions": "Sperm-associated microtubule inner protein 4", "string_link": "https://string-db.org/network/9606/ENSG00000153790", "synonym": "C7ORF31", "ortholog_mouse": "Spmip4", "ortholog_xenopus": "spmip4", "screens": {} }, { "gene": "SPMIP6", "ensembl_id": "ENSG00000164972", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule inner protein 6 [Source:HGNC Symbol,Acc:HGNC:19919]", "omim_id": "619502", "functional_summary": "C9orf24 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15181", "domain_descriptions": "Sperm microtubule inner protein 6", "string_link": "https://string-db.org/network/9606/ENSG00000164972", "synonym": "BA573M23.4, C9ORF24, CBE1, MGC32921, MGC33614, NYD-SP22, SMRP1", "ortholog_mouse": "Spmip6", "screens": {} }, { "gene": "SPMIP7", "ensembl_id": "ENSG00000164500", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule inner protein 7 [Source:HGNC Symbol,Acc:HGNC:22564]", "functional_summary": "SPATA48 has localized in flagella.", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15073", "domain_descriptions": "Spermatogenesis-associated protein 48", "string_link": "https://string-db.org/network/9606/ENSG00000164500", "synonym": "C7ORF72, SPATA48", "ortholog_mouse": "Spmip7", "ortholog_xenopus": "spmip7", "screens": {} }, { "gene": "SPMIP9", "ensembl_id": "ENSG00000172073", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm microtubule inner protein 9 [Source:HGNC Symbol,Acc:HGNC:26341]", "omim_id": "619676", "functional_summary": "TEX37 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF15217", "domain_descriptions": "Sperm microtubule inner protein 9", "string_link": "https://string-db.org/network/9606/ENSG00000172073", "synonym": "C2ORF51, FLJ25369, TEX37, TSC21", "ortholog_mouse": "Spmip9", "screens": {} }, { "gene": "SPNS2", "ensembl_id": "ENSG00000183018", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "SPNS lysolipid transporter 2, sphingosine-1-phosphate [Source:HGNC Symbol,Acc:HGNC:26992]", "omim_id": "612584", "functional_summary": "In COPD and in response to cigarette smoke exposure, there is a possible disruption of epithelial/macrophage cross talk via Spns2-mediated S1P sig ling (29112690).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Cell migration & adhesion", "reference": "2.911269E7", "complex_components": {}, "pfam_ids": "PF07690", "domain_descriptions": ["Major facilitator superfamily", "Major facilitator superfamily domain", "MFS transporter superfamily", "Protein spinster-like"], "string_link": "https://string-db.org/network/9606/ENSG00000183018", "synonym": "SLC63A2", "ortholog_mouse": "Spns2", "ortholog_c_elegans": "spin-1, spin-2, spin-3, spin-4", "ortholog_xenopus": "spns2", "ortholog_zebrafish": "spns2", "ortholog_drosophila": "spin", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.7, "sd_percent_ciliated": 1.7, "z_score": 1.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SPTBN2", "ensembl_id": "ENSG00000173898", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "spectrin beta, non-erythrocytic 2 [Source:HGNC Symbol,Acc:HGNC:11276]", "omim_id": "604985", "functional_summary": "Mutations in the SPTBN2 gene cause Spinocerebellar Ataxia (PMID: 16429157).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "1.6429157E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000173898", "synonym": "SCA5", "ortholog_mouse": "Sptbn2", "ortholog_c_elegans": "unc-70", "ortholog_xenopus": "sptbn2", "ortholog_zebrafish": "sptbn2", "ortholog_drosophila": "β-Spec", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.5367, "z_score": -1.5686, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.1196, "z_score": -2.2886, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.3686 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.99, "z_score": 1.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.99 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3647, "z_score": -3.3647, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.3647 } ] }, { "gene": "SPTBN5", "ensembl_id": "ENSG00000137877", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreases", "description": "spectrin beta, non-erythrocytic 5 [Source:HGNC Symbol;Acc:HGNC:15680]", "omim_id": "605916", "functional_summary": "Sptbn5 colocalized with both acetylated 伪-tubulin and 纬-tubulin along the entire cilia.Immunofluorescence examination of E13.5 OFTs revealed significantly reduced cilia number and shorter lengths in homozygous mice compared with wild-type littermates (P < 0.05)(PMID: 41071877). We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). However, because of the polygenic genetic architecture and low penetrance of nonsyndromic TOF, it was impossible to construct mouse models for each candidate ciliary gene to verify its pathogenic role in TOF. We therefore selected six previously unidentified genes (namely AGBL2, MLF1, PKHD1L1, PPEF2, SPTBN5, and TEKT3) with recurrent mutations for mouse models construction and phenotype validation, both to illustrate the reliability of our screening strategy and to provide in vivo evidence supporting the contribution of ciliary gene variants to TOF pathogenesis. (41071877)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "4.1071877E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000137877", "synonym": "BSPECV, HUBSPECV, HUSPECV", "ciliopathy": "Tetralogy of Fallot (TOF)", "ortholog_mouse": "Sptbn5", "ortholog_c_elegans": "sma-1", "ortholog_xenopus": "sptbn5", "ortholog_zebrafish": "sptbn5", "ortholog_drosophila": "kst", "screens": [] }, { "gene": "SPZ1", "ensembl_id": "ENSG00000164299", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "spermatogenic leucine zipper 1 [Source:HGNC Symbol,Acc:HGNC:30721]", "omim_id": "618068", "functional_summary": "SPZ1 localized to flagella (25613900)", "localization": "flagella, Nucleus", "functional_category": "Reproduction & sperm", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000164299", "synonym": "FLJ25709, NYD-TSP1, PPP1R148", "ortholog_mouse": "Spz1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.465, "sd_percent_ciliated": 0.465, "z_score": 0.465, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SRA1", "ensembl_id": "ENSG00000213523", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "steroid receptor RNA activator 1 [Source:HGNC Symbol,Acc:HGNC:11281]", "omim_id": "603819", "functional_summary": "SRA1 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NCOA1", "SRA1"], "pfam_ids": "PF07304", "domain_descriptions": ["SRA1/Sec31", "Steroid receptor RNA activator 1"], "string_link": "https://string-db.org/network/9606/ENSG00000213523", "synonym": "SRA, STRAA1", "ortholog_mouse": "Sra1", "ortholog_xenopus": "sra1", "ortholog_zebrafish": "sra1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.636, "sd_percent_ciliated": 12.91, "z_score": -0.4087 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.712, "sd_percent_ciliated": 0.712, "z_score": 0.712 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6899, "sd_percent_ciliated": -0.6899, "z_score": -0.6899 } ] }, { "gene": "SREBF1", "ensembl_id": "ENSG00000072310", "overexpression_effects": "Not Reported; Reduced cilia numbers", "lof_effects": "Decreased; Shorter cilia", "percent_ciliated_cells_effects": "Decreased; Reduced cilia numbers", "description": "sterol regulatory element binding transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:11289]; sterol regulatory element binding transcription factor 1 [Source:HGNC Symbol,Acc:HGNC:11289]", "functional_summary": "SREBP1c-induced loss of the primary cilium could be confirmed in mammalian Madin-Darby canine kidney (MDCK) cells and was mediated by changes in the supply of fatty acids(20889723, 25904332).; Also known as SREBP1. Suppresses primary ciliogenesis. Induces large levels of lysophosphatidylcholine and lysophosphatidylethanolamine , which are typically generated at the outer membrane leaflet. It increases the positive membrane curvature in the plasma membrane and vesicle membranes, causing Rab11- positive vesicles to deviate away from the pericentrosomal preciliary compartment at the ciliary base, suppresing ciliogenesis ( 25904332).", "localization": "Ciliary associated gene; Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Muscle contraction & physiology, Transcription regulation", "reference": "20889723, 25904332; 26104135", "complex_components": ["SCAP", "SEC23A", "SEC24B", "SREBF1", "PKM"], "pfam_ids": "PF00010", "domain_descriptions": ["Myc-type", "basic helix-loop-helix (bHLH) domain", "Helix-loop-helix DNA-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000072310", "synonym": "BHLHD1, SREBP-1C, SREBP1, SREBP1A", "ortholog_mouse": "Srebf1", "ortholog_c_elegans": "sbp-1", "ortholog_xenopus": "srebf1", "ortholog_zebrafish": "srebf1", "ortholog_drosophila": "SREBP", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.2779, "z_score": 0.8714, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.1798, "z_score": 2.4438, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.2885 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.3, "z_score": 4.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 4.3 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.9046, "z_score": -5.9046, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.9046 } ] }, { "gene": "SRGAP1", "ensembl_id": "ENSG00000196935", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SLIT-ROBO Rho GTPase activating protein 1 [Source:HGNC Symbol,Acc:HGNC:17382]", "omim_id": "606523", "functional_summary": "SRGAP1 has localized in cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00018", "PF00620", "PF00611"], "domain_descriptions": ["Rho GTPase-activating protein domain", "FCH domain", "SH3 domain", "Rho GTPase activation protein", "AH/BAR domain superfamily", "F-BAR domain", "srGAP1/2/3", "SH3 domain", "SH3-like domain superfamily", "SLIT-ROBO Rho GTPase-activating protein 1", "F-BAR domain", "SLIT-ROBO Rho GTPase-activating"], "string_link": "https://string-db.org/network/9606/ENSG00000196935", "synonym": "ARHGAP13, KIAA1304", "ortholog_mouse": "Srgap1", "ortholog_c_elegans": "srgp-1", "ortholog_xenopus": "srgap1", "ortholog_zebrafish": "srgap1a, srgap1b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 24.0274, "sd_percent_ciliated": 3.9468, "z_score": -1.694, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5325, "sd_percent_ciliated": -2.5325, "z_score": -2.5325, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SRGAP2", "ensembl_id": "ENSG00000266028", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SLIT-ROBO Rho GTPase activating protein 2 [Source:HGNC Symbol,Acc:HGNC:19751]", "omim_id": "606524", "functional_summary": "SRGAP2 has localized in basal body.", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00018", "PF00611", "PF00620"], "domain_descriptions": ["Rho GTPase-activating protein domain", "FCH domain", "SH3 domain", "Rho GTPase activation protein", "AH/BAR domain superfamily", "F-BAR domain", "srGAP1/2/3", "SH3 domain", "SH3-like domain superfamily", "SLIT-ROBO Rho GTPase-activating"], "string_link": "https://string-db.org/network/9606/ENSG00000266028", "synonym": "ARHGAP34, FNBP2, KIAA0456, SRGAP2A", "ortholog_mouse": "Srgap2", "ortholog_c_elegans": "srgp-1", "ortholog_zebrafish": "srgap2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.9399, "sd_percent_ciliated": 1.3448, "z_score": -0.493, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.74, "sd_percent_ciliated": 0.74, "z_score": 0.74, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.0113, "sd_percent_ciliated": 3.0113, "z_score": 3.0113, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SRGAP2B", "ensembl_id": "ENSG00000196369", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SLIT-ROBO Rho GTPase activating protein 2B [Source:HGNC Symbol,Acc:HGNC:35237]", "omim_id": "614703", "functional_summary": "SRGAP2B has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00611", "domain_descriptions": ["FCH domain", "AH/BAR domain superfamily", "F-BAR domain", "SLIT-ROBO Rho GTPase-activating"], "string_link": "https://string-db.org/network/9606/ENSG00000196369", "synonym": "SRGAP2P2", "ortholog_c_elegans": "srgp-1", "ortholog_zebrafish": "srgap2", "screens": {} }, { "gene": "SRGAP2C", "ensembl_id": "ENSG00000171943", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SLIT-ROBO Rho GTPase activating protein 2C [Source:HGNC Symbol,Acc:HGNC:30584]", "omim_id": "614704", "functional_summary": "SRGAP2C has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00611", "domain_descriptions": ["FCH domain", "AH/BAR domain superfamily", "F-BAR domain", "SLIT-ROBO Rho GTPase-activating"], "string_link": "https://string-db.org/network/9606/ENSG00000171943", "synonym": "SRGAP2P1", "ortholog_c_elegans": "srgp-1", "ortholog_zebrafish": "srgap2", "screens": {} }, { "gene": "SRGAP3", "ensembl_id": "ENSG00000196220", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "SLIT-ROBO Rho GTPase activating protein 3 [Source:HGNC Symbol,Acc:HGNC:19744]", "omim_id": "606525", "functional_summary": "Regulates the actin cytoskeleton, forming a sig lling complex with WAVE-1 to regulate its activation. 10% of SrGAP3 knockout mice die from hydrocephalus and display ependymal cells with reduced density of cilia but without alterations in the length (26104135).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.1289087E7", "complex_components": {}, "pfam_ids": ["PF00611", "PF00620", "PF00018"], "domain_descriptions": ["Rho GTPase-activating protein domain", "FCH domain", "SH3 domain", "Rho GTPase activation protein", "AH/BAR domain superfamily", "F-BAR domain", "srGAP1/2/3", "SH3 domain", "SH3-like domain superfamily", "Slit-Robo GTPase Activating Protein 3", "F-BAR domain", "SLIT-ROBO Rho GTPase-activating"], "string_link": "https://string-db.org/network/9606/ENSG00000196220", "synonym": "ARHGAP14, KIAA0411, MEGAP, SRGAP2, WRP", "ortholog_mouse": "Srgap2, Srgap3", "ortholog_c_elegans": "srgp-1", "ortholog_xenopus": "srgap3", "ortholog_zebrafish": "srgap2, srgap3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.237, "sd_percent_ciliated": 0.237, "z_score": 0.237, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5286, "sd_percent_ciliated": 1.5286, "z_score": 1.5286, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SRPK2", "ensembl_id": "ENSG00000135250", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SRSF protein kinase 2 [Source:HGNC Symbol,Acc:HGNC:11306]", "omim_id": "602980", "functional_summary": "SRPK2 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Viral interactions", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Serine/Arginine-Rich Protein Kinases", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000135250", "synonym": "SFRSK2", "ortholog_mouse": "Srpk2", "ortholog_c_elegans": "spk-1", "ortholog_xenopus": "srpk2", "ortholog_zebrafish": "srpk2", "ortholog_drosophila": "CG8565, SRPK", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 32.7622, "sd_percent_ciliated": 4.9736, "z_score": -0.6357, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3233, "sd_percent_ciliated": 0.3233, "z_score": 0.3233, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SRRM3", "ensembl_id": "ENSG00000177679", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "serine/arginine repetitive matrix 3 [Source:HGNC Symbol,Acc:HGNC:26729]", "functional_summary": "A subset of these microexons is included exclusively in photoreceptor transcripts, particularly in genes involved in cilia biogenesis and vesicle-mediated transport and this microexon program is regulated by Srrm3, a paralog of the neural microexon regulator Srrm4. Despite the fact that both proteins positively regulate reti microexons in vitro, only Srrm3 is highly expressed in mature photoreceptors ( 35858306).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5858306E7", "complex_components": {}, "pfam_ids": ["PF15230", "PF08312"], "domain_descriptions": ["mRNA splicing factor Cwf21 domain", "Serine/arginine repetitive matrix protein", "C-terminal", "Serine/arginine repetitive matrix protein 3", "cwf21 domain", "Serine/Arginine Repetitive Matrix Domain-Containing Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000177679", "synonym": "FLJ37078", "ortholog_mouse": "Srrm3", "ortholog_xenopus": "srrm3", "ortholog_zebrafish": "srrm3", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0086, "sd_percent_ciliated": -0.0086, "z_score": -0.0086, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SRRM4", "ensembl_id": "ENSG00000139767", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "serine/arginine repetitive matrix 4 [Source:HGNC Symbol,Acc:HGNC:29389]", "omim_id": "613103", "functional_summary": "A subset of these microexons is included exclusively in photoreceptor transcripts, particularly in genes involved in cilia biogenesis and vesicle-mediated transport and this microexon program is regulated by Srrm3, a paralog of the neural microexon regulator Srrm4. Despite the fact that both proteins positively regulate reti microexons in vitro, only Srrm3 is highly expressed in mature photoreceptors ( 35858306).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5858306E7", "complex_components": {}, "pfam_ids": "PF15230", "domain_descriptions": ["Serine/arginine repetitive matrix protein", "C-terminal", "Serine/Arginine Repetitive Matrix Domain-Containing Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000139767", "synonym": "KIAA1853, NSR100", "ortholog_mouse": "Srrm4", "ortholog_xenopus": "srrm4", "ortholog_zebrafish": "srrm4", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9059, "sd_percent_ciliated": 0.9059, "z_score": 0.9059, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SSBP1", "ensembl_id": "ENSG00000106028", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "single stranded DNA binding protein 1 [Source:HGNC Symbol,Acc:HGNC:11317]", "omim_id": "600439", "functional_summary": "SSBP1 has localized in flagella.", "localization": "flagella, Nucleus, Mitochondria", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000106028", "synonym": "MTSSB, SSBP", "ortholog_mouse": "Ssbp1", "ortholog_c_elegans": "mtss-1", "ortholog_xenopus": "ssbp1", "ortholog_zebrafish": "ssbp1", "ortholog_drosophila": "mtSSB", "screens": {} }, { "gene": "SSNA1", "ensembl_id": "ENSG00000176101", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "SS nuclear autoantigen 1 [Source:HGNC Symbol,Acc:HGNC:11321]", "omim_id": "610882", "functional_summary": "Required for ciliary transport and sig lling. It may regulate postciliary endocytosis of constitutive GPCRs and facilitate endocytosis from the cell surface following transit through cilia, as knockdown inhibits Gli3 ciliary accumulation but retain normal length cilia (21289087).", "localization": "cilia, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "10199624, 23392690, 18992731", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000176101", "synonym": "N14, NA14", "ortholog_mouse": "Ssna1", "ortholog_xenopus": "ssna1", "ortholog_zebrafish": "ssna1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.8129, "sd_percent_ciliated": 2.325, "z_score": -0.6296 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.58, "sd_percent_ciliated": 8.58, "z_score": 8.58 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4674, "sd_percent_ciliated": 1.4674, "z_score": 1.4674 } ] }, { "gene": "SSRP1", "ensembl_id": "ENSG00000149136", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "structure specific recognition protein 1 [Source:HGNC Symbol;Acc:HGNC:11327]", "functional_summary": "Loss of SSRP1 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000149136", "synonym": "FACT80", "ortholog_mouse": "Ssrp1", "ortholog_c_elegans": "hmg-3, hmg-4", "ortholog_xenopus": "ssrp1", "ortholog_zebrafish": "ssrp1a, ssrp1b", "ortholog_drosophila": "Ssrp", "screens": [] }, { "gene": "SSTR3", "ensembl_id": "ENSG00000278195", "overexpression_effects": "Longer cilia", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "somatostatin receptor 3 [Source:HGNC Symbol,Acc:HGNC:11332]", "omim_id": "182453", "functional_summary": "Ciliary GPCR. Localized to the plasma membrane of neuro l cilia (10199624, 23392690). Ciliary trafficking of SSTR3 into neural cilia is promoted by TULP3. Overexpression induces premature growth of primary cilia and increases expression levels of Kif3A, IFT88 and cytoplasmatic dynein (23392690). Possible influence on cell survival and/or apoptotic processes, as well as cell cycle (18992731). Overexpression of 5HT6 and SSTR3 in mouse neocortical neurons induces abnormal growth of their primary cilia. (23392690)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "24356449, 24397932, 23392690 ,10199624", "complex_components": ["PDZK1", "PLCB3", "SSTR3"], "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Somatostatin receptor family", "Somatostatin receptor 3", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000278195", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sstr3", "ortholog_c_elegans": "npr-16, npr-17, npr-24, npr-28", "ortholog_xenopus": "sstr3", "ortholog_zebrafish": "sstr3", "ortholog_drosophila": "AstC-R1", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.5076, "z_score": 0.3187, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 50.5959, "z_score": 1.5249, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.8981 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0503, "z_score": 0.0503, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.0503 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7009, "z_score": -4.7009, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.7009 } ] }, { "gene": "SSX2IP", "ensembl_id": "ENSG00000117155", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "SSX family member 2 interacting protein [Source:HGNC Symbol,Acc:HGNC:16509]", "omim_id": "608690", "functional_summary": "Centriolar satellite and microtubule anchoring protein. Interacts with PCM-1. Essential for the assembly of primary cilia and the recruitment of Cep290 to both satellites and the basal body, it also promotes the ciliary entry of the entire BBSome. Knockdown limits targeting of somatostatin receptor 3, and significantly reduces axoneme length. Possible novel cooperator of Rab8 (24356449). Binds the microtubule-nucleator gamma- tubulin complex. Knockdown of its orthologue in zebrafish, results in ciliary defects and disturbs left-right asymmetry. Microtubule anchoring role to the basal body is required for primary cilia formation (24397932).", "localization": "basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "22349705, 31115335, 25486474", "complex_components": {}, "pfam_ids": "PF11559", "domain_descriptions": ["Afadin/alpha-actinin-binding", "Adhesion and Centrosome-associated Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000117155", "synonym": "HMSD1", "ortholog_mouse": "Ssx2ip", "ortholog_xenopus": "ssx2ip", "ortholog_zebrafish": "ssx2ipa", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.3649, "sd_percent_ciliated": 11.7603, "z_score": -0.3204, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5894, "sd_percent_ciliated": -1.5894, "z_score": -1.5894, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ST3GAL5", "ensembl_id": "ENSG00000115525", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5 [Source:HGNC Symbol,Acc:HGNC:10872]", "omim_id": "604402", "functional_summary": "Cells subjected to trichoplein knockdown displayed decreased levels of phosphorylated Akt in the cytoplasm, and around the ciliary base in particular (33691104).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3691104E7", "complex_components": {}, "pfam_ids": "PF00777", "domain_descriptions": ["Glycosyl transferase family 29", "Sialyltransferase", "GT29-like superfamiliy", "Glycosyltransferase 29"], "string_link": "https://string-db.org/network/9606/ENSG00000115525", "synonym": "SIAT9, SIATGM3S, ST3GALV", "ortholog_mouse": "St3gal5", "ortholog_xenopus": "st3gal5", "ortholog_zebrafish": "st3gal5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.48, "sd_percent_ciliated": 4.48, "z_score": 4.48, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.1581, "sd_percent_ciliated": -6.1581, "z_score": -6.1581, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STAG1", "ensembl_id": "ENSG00000118007", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "STAG1 cohesin complex component [Source:HGNC Symbol,Acc:HGNC:11354]", "omim_id": "604358", "functional_summary": "STAG1 has localized in primary cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["RAD21", "SMC1A", "SMC3", "STAG1", "BAZ1A", "CHD3", "HDAC1", "HDAC2", "MBD2", "MBD3", "MTA1", "MTA2", "RBBP4", "RBBP7", "SMARCA5", "STAG2"], "pfam_ids": ["PF08514", "PF21581", "PF24571"], "domain_descriptions": ["STAG", "Armadillo-type fold", "Stromalin conservative domain", "Cohesin subunit Scc3/SA", "Cohesin subunit SCC3/SA", "HEAT-repeats domain"], "string_link": "https://string-db.org/network/9606/ENSG00000118007", "synonym": "SA-1, SA1, SCC3A", "ortholog_mouse": "Stag1", "ortholog_c_elegans": "scc-3", "ortholog_xenopus": "stag1", "ortholog_zebrafish": "stag1a, stag1b", "ortholog_drosophila": "SA1, SA2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.4156, "sd_percent_ciliated": 3.8146, "z_score": -0.1931, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.266, "sd_percent_ciliated": 0.266, "z_score": 0.266, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1411, "sd_percent_ciliated": -2.1411, "z_score": -2.1411, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STAG2", "ensembl_id": "ENSG00000101972", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "STAG2 cohesin complex component [Source:HGNC Symbol,Acc:HGNC:11355]", "functional_summary": "Mutations in the STAG2 gene cause Holoprosencephaly (PMID: 31334757).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "31334757 ,31334757", "complex_components": ["RAD21", "SMC1A", "SMC3", "STAG2", "BAZ1A", "CHD3", "HDAC1", "HDAC2", "MBD2", "MBD3", "MTA1", "MTA2", "RBBP4", "RBBP7", "SMARCA5", "STAG1", "USP13"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101972", "synonym": "SA-2, SA2, SCC3B", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stag2", "ortholog_c_elegans": "scc-3", "ortholog_xenopus": "stag2", "ortholog_zebrafish": "stag2a, stag2b", "ortholog_drosophila": "SA1, SA2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.5734, "sd_percent_ciliated": 1.113, "z_score": -0.4163 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 19.8, "sd_percent_ciliated": 19.8, "z_score": 19.8 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8526, "sd_percent_ciliated": -0.8526, "z_score": -0.8526 } ] }, { "gene": "STAT1", "ensembl_id": "ENSG00000115415", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "signal transducer and activator of transcription 1 [Source:HGNC Symbol,Acc:HGNC:11362]", "omim_id": "600555", "functional_summary": "Proteogenomic profiling reveals that primary ciliogenesis drives sig l transducer and activator of transcription (STAT1) and death receptor 5 (DR5) sig ling in AT/RT cell line models ( 36127323).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "3.6127323E7", "complex_components": ["CREBBP", "STAT1", "DTX3L", "PARP9", "IRF8", "SPI1", "IRF1", "STAT3", "IRF9", "STAT2", "IFNAR1", "IFNAR2", "RACK1", "ESR1", "FOS", "FOXA1", "GATA3", "PRKDC", "RARA", "TFAP2C", "XRCC5", "XRCC6", "RARG", "TYK2", "IFNG", "KPNA1", "ABL1", "NUP214"], "pfam_ids": ["PF12162", "PF21354", "PF02864", "PF00017", "PF01017", "PF02865"], "domain_descriptions": ["SH2 domain", "Transcription factor STAT", "p53-like transcription factor", "DNA-binding domain superfamily", "STAT transcription factor", "DNA-binding", "N-terminal", "STAT transcription factor", "protein interaction", "STAT transcription factor", "all-alpha domain", "STAT transcription factor", "DNA-binding", "STAT transcription factor", "coiled coil", "Signal transducer and activation of transcription 1", "TAZ2 binding domain", "C-terminal", "STAT1", "SH2 domain", "STAT transcription factor", "N-terminal domain superfamily", "SH2 domain superfamily", "STAT1", "C-terminal domain superfamily", "Signal transducer and activator of transcription", "linker domain"], "string_link": "https://string-db.org/network/9606/ENSG00000115415", "synonym": "ISGF-3, STAT91", "ortholog_mouse": "Stat1", "ortholog_c_elegans": "sta-1", "ortholog_xenopus": "stat1", "ortholog_zebrafish": "stat1a, stat1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.2071, "sd_percent_ciliated": 7.1219, "z_score": -0.9453 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.258, "sd_percent_ciliated": 0.258, "z_score": 0.258 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.6282, "sd_percent_ciliated": -0.6282, "z_score": -0.6282 } ] }, { "gene": "STAT3", "ensembl_id": "ENSG00000168610", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Increased", "description": "signal transducer and activator of transcription 3 [Source:HGNC Symbol,Acc:HGNC:11364]", "omim_id": "102582", "functional_summary": "IL-6/STAT3 promotes regeneration of airway ciliated cells from basal stem cells( 25136113)", "localization": "Ciliary associated gene, Cytosol, Endosome, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "25136113, 21821671 ,21821671; 25136113", "complex_components": ["APEX1", "CITED1", "HIF1A", "STAT3", "IL6ST", "PRKCD", "MAP3K7", "NLK", "EP300", "SMAD1", "KDR", "NFKB1", "RELA", "ISL1", "LHX3", "LYN", "PAG1", "STAT1", "AR", "PPARG", "HDAC11", "HDAC3", "CD274"], "pfam_ids": ["PF00017", "PF02864", "PF01017", "PF02865", "PF21354"], "domain_descriptions": ["SH2 domain", "Transcription factor STAT", "p53-like transcription factor", "DNA-binding domain superfamily", "STAT transcription factor", "DNA-binding", "N-terminal", "STAT transcription factor", "protein interaction", "STAT transcription factor", "all-alpha domain", "STAT transcription factor", "DNA-binding", "STAT transcription factor", "coiled coil", "STAT3", "SH2 domain", "STAT transcription factor", "N-terminal domain superfamily", "SH2 domain superfamily", "Signal transducer and activator of transcription", "linker domain"], "string_link": "https://string-db.org/network/9606/ENSG00000168610", "synonym": "APRF", "ciliopathy": "Polycystic Kidney Disease", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stat3", "ortholog_c_elegans": "sta-1", "ortholog_xenopus": "stat3, stat3.2", "ortholog_zebrafish": "stat3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 26.4552, "sd_percent_ciliated": 8.5208, "z_score": -1.3998 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0361, "sd_percent_ciliated": 0.0361, "z_score": 0.0361 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.2023, "sd_percent_ciliated": -3.2023, "z_score": -3.2023 } ] }, { "gene": "STAT4", "ensembl_id": "ENSG00000138378", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "signal transducer and activator of transcription 4 [Source:HGNC Symbol,Acc:HGNC:11365]", "functional_summary": "STAT4 has localized in basal body,flagella.", "localization": "basal body,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Transcription regulation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF01017", "PF02865", "PF02864", "PF00017", "PF21354"], "domain_descriptions": ["SH2 domain", "Transcription factor STAT", "p53-like transcription factor", "DNA-binding domain superfamily", "STAT transcription factor", "DNA-binding", "N-terminal", "STAT transcription factor", "protein interaction", "STAT transcription factor", "all-alpha domain", "STAT transcription factor", "DNA-binding", "STAT transcription factor", "coiled coil", "Signal transducer and activator of transcription 4", "DNA-binding domain", "STAT4", "SH2 domain", "STAT transcription factor", "N-terminal domain superfamily", "SH2 domain superfamily", "Signal transducer and activator of transcription 4", "coiled-coil domain", "Signal transducer and activator of transcription", "linker domain"], "string_link": "https://string-db.org/network/9606/ENSG00000138378", "ortholog_mouse": "Stat4", "ortholog_c_elegans": "sta-1", "ortholog_xenopus": "stat4", "ortholog_zebrafish": "stat4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.855, "sd_percent_ciliated": 5.0135, "z_score": -0.3822, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.2414, "sd_percent_ciliated": -12.2414, "z_score": -12.2414, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STAT6", "ensembl_id": "ENSG00000166888", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "signal transducer and activator of transcription 6 [Source:HGNC Symbol,Acc:HGNC:11368]", "omim_id": "601512", "functional_summary": "The PC1 tail interacts with the transcription factor STAT6 and the coactivator P100, and it stimulates STAT6-dependent gene expression(16399078).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Transcription regulation", "reference": "1.6399078E7", "complex_components": ["DHX9", "SND1", "STAT6"], "pfam_ids": ["PF21354", "PF01017", "PF00017", "PF02864", "PF14596", "PF02865"], "domain_descriptions": ["SH2 domain", "Transcription factor STAT", "p53-like transcription factor", "DNA-binding domain superfamily", "STAT transcription factor", "DNA-binding", "N-terminal", "STAT transcription factor", "protein interaction", "STAT transcription factor", "all-alpha domain", "STAT transcription factor", "DNA-binding", "STAT transcription factor", "coiled coil", "STAT6", "C-terminal", "STAT6", "SH2 domain", "STAT transcription factor", "N-terminal domain superfamily", "SH2 domain superfamily", "Signal transducer and activator of transcription", "linker domain"], "string_link": "https://string-db.org/network/9606/ENSG00000166888", "synonym": "D12S1644, IL-4-STAT", "ortholog_mouse": "Stat6", "ortholog_c_elegans": "sta-1", "ortholog_xenopus": "stat6", "ortholog_zebrafish": "stat6", "ortholog_drosophila": "Stat92E", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.6016, "sd_percent_ciliated": 7.9827, "z_score": 0.3141, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.5, "sd_percent_ciliated": 1.5, "z_score": 1.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.7236, "sd_percent_ciliated": -1.7236, "z_score": -1.7236, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STIL", "ensembl_id": "ENSG00000123473", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "STIL centriolar assembly protein [Source:HGNC Symbol,Acc:HGNC:10879]", "omim_id": "181590", "functional_summary": "Centrosomal protein necessary for SAS6 recruitment to centrioles, which suggestes and essential role in daughter centriole formation. Required for mouse embryonic left鈥", "localization": "cilia, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "31636950, 29925518, 20972424, 28159992 ,25486474", "complex_components": ["PLK4", "STIL"], "pfam_ids": "PF15253", "domain_descriptions": "SCL-interrupting locus protein", "string_link": "https://string-db.org/network/9606/ENSG00000123473", "synonym": "MCPH7, SIL", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stil", "ortholog_xenopus": "stil", "ortholog_zebrafish": "stil", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.59, "sd_percent_ciliated": 6.59, "z_score": 6.59, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.6852, "sd_percent_ciliated": -8.6852, "z_score": -8.6852, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STING1", "ensembl_id": "ENSG00000184584", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "stimulator of interferon response cGAMP interactor 1 [Source:HGNC Symbol,Acc:HGNC:27962]", "omim_id": "612374", "functional_summary": "STING1 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["AMFR", "INSIG1", "STING1", "TBK1", "TRAF3", "MAVS", "RIGI"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000184584", "synonym": "ERIS, FLJ38577, MITA, MPYS, NET23, STING, TMEM173", "ortholog_mouse": "Sting1", "ortholog_xenopus": "sting1", "ortholog_zebrafish": "sting1", "ortholog_drosophila": "Sting", "screens": {} }, { "gene": "STK11", "ensembl_id": "ENSG00000118046", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "serine/threonine kinase 11 [Source:HGNC Symbol,Acc:HGNC:11389]", "omim_id": "602216", "functional_summary": "Downregulated in diseases associated with ciliopathies, including BBS, PKD and PHP. Regulates multiciliogenesis and differenciation of ciliated cells by phosphorylating MARK3 which supresses ERK1/2 (31636950). Required for CCL2 regulation within cilia, via interactions with NPHP1, ANKS3 and NEK7 (29925518). Bending of cilium activates Lkb1 pathway, which inhibits mTORC1 activity and regulation cell size (20972424). Duct-specific deletion causes duct dilations and shorter cilia with swollen tips, indicative of perturbed intraciliary transport (28159992).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "19305393, 23907739, 28543983, 21746835", "complex_components": ["CAB39", "STK11", "STRADA", "ATP6V0C", "ATP6V0D1", "ATP6V1A", "ATP6V1B2", "AXIN1", "LAMTOR1", "LAMTOR2", "LAMTOR3", "LAMTOR4", "LAMTOR5", "PRKAA1", "PRKAB1", "PRKAG1", "NISCH"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Serine/Threonine kinase LKB1", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000118046", "synonym": "LKB1, PJS", "ortholog_mouse": "Stk11", "ortholog_c_elegans": "par-4", "ortholog_xenopus": "stk11", "ortholog_zebrafish": "stk11", "ortholog_drosophila": "Lkb1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.6736, "sd_percent_ciliated": 1.3517, "z_score": 0.5651 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.76, "sd_percent_ciliated": 1.76, "z_score": 1.76 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.966, "sd_percent_ciliated": -1.966, "z_score": -1.966 } ] }, { "gene": "STK16", "ensembl_id": "ENSG00000115661", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "serine/threonine kinase 16 [Source:HGNC Symbol,Acc:HGNC:11394]", "omim_id": "604719", "functional_summary": "STK16 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000115661", "synonym": "MPSK, PKL12", "ortholog_mouse": "Stk16", "ortholog_c_elegans": "D2045.7", "ortholog_xenopus": "stk16", "ortholog_zebrafish": "stk16", "ortholog_drosophila": "CG1227", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.6542, "sd_percent_ciliated": 1.8057, "z_score": -0.1642 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.0818, "sd_percent_ciliated": 0.0818, "z_score": 0.0818 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8423, "sd_percent_ciliated": -2.8423, "z_score": -2.8423 } ] }, { "gene": "STK33", "ensembl_id": "ENSG00000130413", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "serine/threonine kinase 33 [Source:HGNC Symbol,Acc:HGNC:14568]", "omim_id": "607670", "functional_summary": "Stk33 is essential for spermiogenesis and male fertility, and Stk33 influences manchette function and sperm tail formation(29155043).", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "29155043 ,29155043, 26947080", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000130413", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stk33", "ortholog_c_elegans": "K02E10.7", "ortholog_xenopus": "stk33", "ortholog_zebrafish": "stk33", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.3154, "sd_percent_ciliated": 4.5646, "z_score": 0.0371, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.37, "sd_percent_ciliated": 1.37, "z_score": 1.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "STK36", "ensembl_id": "ENSG00000163482", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "serine/threonine kinase 36 [Source:HGNC Symbol,Acc:HGNC:17209]", "omim_id": "607652", "functional_summary": "Also knwown as FU. Participates in Hh sig ling, 9+2 cilia biogenesis and function, as well as assembly or mainte nce of the central pair apparatus. Interacts with Kif27 (19305393), Spag16 and Pcdp1 (23907739). Required for cilia orientation and the integrity of the whole radial spokes head. Essential for recruiting radial spokes head proteins to the axoneme. Mutations are associated with a novel PCD variant (28543983). Stk36 null show craniofacial abnormalities and defects in organs where hedgehog sig ling is required (21746835).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "23435566, 28122914, 20887780, 28543983 ,28543983", "complex_components": {}, "pfam_ids": ["PF00069", "PF13646"], "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Armadillo-like helical", "Armadillo-type fold", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000163482", "synonym": "FU, KIAA1278", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stk36", "ortholog_xenopus": "stk36", "ortholog_zebrafish": "stk36", "ortholog_drosophila": "fu", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.4279, "sd_percent_ciliated": 2.0802, "z_score": -1.0397 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.317, "sd_percent_ciliated": 0.317, "z_score": 0.317 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -6.3654, "sd_percent_ciliated": -6.3654, "z_score": -6.3654 } ] }, { "gene": "STK38L", "ensembl_id": "ENSG00000211455", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "serine/threonine kinase 38 like [Source:HGNC Symbol,Acc:HGNC:17848]", "omim_id": "615836", "functional_summary": "Phosphorylates Rabin8 which is crucial role in ciliogenesis. Regulates the process of vesicular trafficking and tethering to the pericentrosome, promoting local activation of Rab8 and ciliary membrane formation. Defects in NDR2-mediated Rabin8 phosphorylation impair preciliary membrane assembly and ciliogenesis, leading to accumulation of Rabin8-/Rab11-containing vesicles at the pericentrosome. Knockdown in RPE1 cells suporesses ciliogenesis (23435566, 28122914). Mutated in canine early reti l degeneration, suggesting a role in photoreceptor cell function (20887780).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "17959775, 21646512, 12122055 ,28560031, 28122914", "complex_components": {}, "pfam_ids": ["PF00433", "PF00069"], "domain_descriptions": ["Protein kinase domain", "AGC-kinase", "C-terminal", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Protein kinase", "C-terminal", "Rho-associated Serine/Threonine Kinase", "Serine/threonine-protein kinases", "AGC"], "string_link": "https://string-db.org/network/9606/ENSG00000211455", "synonym": "KIAA0965, NDR2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stk38l", "ortholog_c_elegans": "sax-1", "ortholog_xenopus": "stk38l", "ortholog_zebrafish": "stk38l", "ortholog_drosophila": "trc", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.8626, "sd_percent_ciliated": 13.5951, "z_score": -0.7447, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.81, "sd_percent_ciliated": 3.81, "z_score": 3.81, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.9226, "sd_percent_ciliated": -5.9226, "z_score": -5.9226, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STOM", "ensembl_id": "ENSG00000148175", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "stomatin [Source:HGNC Symbol,Acc:HGNC:3383]", "omim_id": "133090", "functional_summary": "STOM mainly localizes in the knob/ciliary region of the OSNs while in the cell body it is detected in puncta. STOM and STOML3 share a similar expression pattern and STOML3 is necessary for STOM to properly localize to OSN cilia(35794236).", "localization": "cilia, Endosome, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5794236E7", "complex_components": ["SLC29A1", "STOM"], "pfam_ids": "PF01145", "domain_descriptions": ["Band 7 domain", "Stomatin/HflK family", "Band 7/stomatin-like", "conserved site", "Band 7/SPFH domain superfamily", "Band-7 stomatin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000148175", "synonym": "BND7, EPB7, EPB72", "ortholog_mouse": "Stom", "ortholog_c_elegans": "sto-2", "ortholog_xenopus": "stom", "ortholog_zebrafish": "stom", "ortholog_drosophila": "CG42540", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.4327, "sd_percent_ciliated": 7.5811, "z_score": -0.9179 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.75, "sd_percent_ciliated": 4.75, "z_score": 4.75 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6072, "sd_percent_ciliated": 0.6072, "z_score": 0.6072 } ] }, { "gene": "STOML3", "ensembl_id": "ENSG00000133115", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "stomatin like 3 [Source:HGNC Symbol,Acc:HGNC:19420]", "omim_id": "608327", "functional_summary": "Localizes to Basal Body, mechanosensing channel. BBS4 snd BBS8 knock-out impede its function. (17959775, 21646512). Localised to olfactory cilia of mature olfactory sensory neurons. Involved in olfactory sig ling (12122055).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.9581457E7", "complex_components": {}, "pfam_ids": "PF01145", "domain_descriptions": ["Band 7 domain", "Stomatin/HflK family", "Band 7/stomatin-like", "conserved site", "Band 7/SPFH domain superfamily", "Band-7 stomatin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000133115", "synonym": "EPB7.2L, SRO", "ortholog_mouse": "Stoml3", "ortholog_c_elegans": "sto-2", "ortholog_xenopus": "stoml3", "ortholog_zebrafish": "stoml3a, stoml3b", "ortholog_drosophila": "CG42540", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.3869, "sd_percent_ciliated": 4.1517, "z_score": -0.0754, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.05, "sd_percent_ciliated": 3.05, "z_score": 3.05, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0633, "sd_percent_ciliated": -6.0633, "z_score": -6.0633, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STPG2", "ensembl_id": "ENSG00000163116", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "sperm tail PG-rich repeat containing 2 [Source:HGNC Symbol,Acc:HGNC:28712]", "functional_summary": "STPG2 has localized in flagella.", "localization": "flagella", "functional_category": "Reproduction & sperm", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF07004", "domain_descriptions": ["Sperm-tail PG-rich repeat", "Ciliary Microtubule Associated"], "string_link": "https://string-db.org/network/9606/ENSG00000163116", "synonym": "C4ORF37, MGC46496", "ortholog_mouse": "Stpg2", "ortholog_xenopus": "stpg2", "ortholog_zebrafish": "stpg2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.349, "sd_percent_ciliated": 0.349, "z_score": 0.349, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "STRADB", "ensembl_id": "ENSG00000082146", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "STE20 related adaptor beta [Source:HGNC Symbol,Acc:HGNC:13205]", "omim_id": "607333", "functional_summary": "The STRAD尾-LKB1-MO25 complex appears to localize to the cilium when STRAD尾 is palmitoylated(26585297).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.6585297E7", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Protein kinase-like domain superfamily", "STE20-related kinase adapter protein alpha/beta-like"], "string_link": "https://string-db.org/network/9606/ENSG00000082146", "synonym": "ALS2CR2, CALS-21, ILPIP, ILPIPA, PAPK", "ortholog_mouse": "Stradb", "ortholog_c_elegans": "strd-1", "ortholog_xenopus": "stradb", "ortholog_zebrafish": "stradb", "ortholog_drosophila": "Stlk", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.154, "sd_percent_ciliated": 0.154, "z_score": 0.154, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9783, "sd_percent_ciliated": -2.9783, "z_score": -2.9783, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STRN3", "ensembl_id": "ENSG00000196792", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "striatin 3 [Source:HGNC Symbol,Acc:HGNC:15720]", "omim_id": "614766", "functional_summary": "STRN3 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["PPP2CA", "PPP2R1A", "STRN3", "MOB4", "Strip1", "STRN", "CTTNBP2NL", "GOLGA2", "PDCD10", "STK26", "STRIP1", "STRN4"], "pfam_ids": ["PF08232", "PF00400"], "domain_descriptions": ["WD40 repeat", "Striatin", "N-terminal", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat-containing striatin"], "string_link": "https://string-db.org/network/9606/ENSG00000196792", "synonym": "PPP2R6B, S/G2NA, SG2NA", "ortholog_mouse": "Strn3", "ortholog_c_elegans": "cash-1", "ortholog_xenopus": "strn3", "ortholog_zebrafish": "strn3", "ortholog_drosophila": "Cka", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.8183, "sd_percent_ciliated": 4.7984, "z_score": -0.7501, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.08, "sd_percent_ciliated": 6.08, "z_score": 6.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5426, "sd_percent_ciliated": 1.5426, "z_score": 1.5426, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STUB1", "ensembl_id": "ENSG00000103266", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "STIP1 homology and U-box containing protein 1 [Source:HGNC Symbol,Acc:HGNC:11427]", "omim_id": "607207", "functional_summary": "Also known as CHIP. E3 ub- ligase. Ubiquitylates and degrades NEK10. Novel regulator of protein turnover at ciliary sites, it couples GPCR sig ling to cilia dy mics. Downregulation of CHIP prevents cilia resorption whilst increased expression of CHIP is linked to reduced NEK10 levels and ciliogenesis, role in control of cilium stability. Mutations have been reported in patients with autosomal recessive spinocerebellar ataxia-16 SCAR16 (29581457 ).", "localization": "cilia, basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "19454479, 31694913, 26216965, 30381368", "complex_components": ["HSPA1A", "NOS1", "STUB1", "HSP90AB1", "LRRK2", "HSPA8", "MAPT", "UBE2D2", "BAG3", "HSPB8", "HSPBP1", "BAG1", "EPM2A", "NHLRC1", "PA2G4"], "pfam_ids": ["PF18391", "PF04564", "PF12895"], "domain_descriptions": ["U-box domain", "Tetratricopeptide-like helical domain superfamily", "Zinc finger", "RING/FYVE/PHD-type", "Tetratricopeptide repeat", "CHIP", "N-terminal tetratricopeptide repeat domain", "CHIP ", "U-box domain"], "string_link": "https://string-db.org/network/9606/ENSG00000103266", "synonym": "CHIP, HSPABP2, NY-CO-7, SDCCAG7, UBOX1", "ortholog_mouse": "Stub1", "ortholog_c_elegans": "chn-1", "ortholog_xenopus": "stub1", "ortholog_zebrafish": "stub1", "ortholog_drosophila": "STUB1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.2583, "sd_percent_ciliated": 1.3209, "z_score": 0.7571, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 65.6, "sd_percent_ciliated": 65.6, "z_score": 65.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7903, "sd_percent_ciliated": -0.7903, "z_score": -0.7903, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STX3", "ensembl_id": "ENSG00000166900", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "syntaxin 3 [Source:HGNC Symbol,Acc:HGNC:11438]", "omim_id": "600876", "functional_summary": "Major partner for S P25 in photoreceptor cells and regulates rhodopsin delivery by mediating docking and fusion of rhodopsin transport carriers, expansion of the ciliary membrane and rod outer segments biogenesis (19454479). Mislocalises to the outer segment in Bardet-Biedl syndrome (31694913, 26216965).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "20956384, 21209912, 33024317, 28965847 ,19454479", "complex_components": ["GNA11", "ITPR1", "ITPR3", "PLCB1", "PLCB2", "PLCB3", "STX3", "TRPC3", "TRPC6"], "pfam_ids": ["PF00804", "PF05739"], "domain_descriptions": ["Target SNARE coiled-coil homology domain", "Syntaxin", "N-terminal domain", "Syntaxin/epimorphin", "conserved site", "SNARE", "Syntaxin-3", "SNARE motif", "Syntaxin"], "string_link": "https://string-db.org/network/9606/ENSG00000166900", "synonym": "STX3A", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Stx3", "ortholog_c_elegans": "unc-64", "ortholog_xenopus": "stx3", "ortholog_zebrafish": "stx3a, stx3b", "ortholog_drosophila": "Syx1A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.2776, "sd_percent_ciliated": -5.2776, "z_score": -5.2776, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "STXBP1", "ensembl_id": "ENSG00000136854", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "syntaxin binding protein 1 [Source:HGNC Symbol,Acc:HGNC:11444]", "omim_id": "602926", "functional_summary": "accumulation of Stx3 and Stxbp1/Munc18-1 and loss of polarized localization of Prom1 within the Lztfl1 and Bbs1 mutant outer segment (26216965).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Protein processing & maturation, Transcription regulation", "reference": "2.6216965E7", "complex_components": ["STX1A", "STXBP1"], "pfam_ids": "PF00995", "domain_descriptions": ["Sec1-like protein", "Sec1-like", "domain 2", "Sec1-like superfamily", "Sec1-like", "domain 3a", "Sec1-like", "domain 1"], "string_link": "https://string-db.org/network/9606/ENSG00000136854", "synonym": "HUNC18, MUNC18-1, NSEC1, RBSEC1, UNC18", "ortholog_mouse": "Stxbp1", "ortholog_c_elegans": "unc-18", "ortholog_xenopus": "stxbp1", "ortholog_zebrafish": "stxbp1a, stxbp1b", "ortholog_drosophila": "Rop", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.6372, "sd_percent_ciliated": 5.9734, "z_score": 0.5607, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.55, "sd_percent_ciliated": 2.55, "z_score": 2.55, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4142, "sd_percent_ciliated": 0.4142, "z_score": 0.4142, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SUFU", "ensembl_id": "ENSG00000107882", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SUFU negative regulator of hedgehog signaling [Source:HGNC Symbol,Acc:HGNC:16466]", "omim_id": "607035", "functional_summary": "Negative regulator of Gli, essential for repressing Hh sig ling. Sufu prevents nuclear translocation of Gli proteins. PKA inhibits Sufu-Gli complexes and blocks their ciliary localisation (20956384, 21209912). Mutations have been associated with Joubert syndrome, cranio-facial dysmorphisms and congenital ocular motor apraxia (33024317, 28965847).", "localization": "cilia, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "28625779, 27802164, 29630990, 19596800, 19833601, 10.1016/j.ajhg.2017.08.017 ,10.1016/j.ajhg.2017.08.017; 19833601", "complex_components": ["GLIS3", "SUFU"], "pfam_ids": ["PF12470", "PF05076"], "domain_descriptions": ["Suppressor of fused", "Suppressor of fused", "eukaryotic", "Suppressor of fused-like domain", "Suppressor of fused C-terminal", "Suppressor of fused", "N-terminal", "Suppressor of fused", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000107882", "synonym": "PRO1280, SUFUH, SUFUXL", "ciliopathy": "Joubert Syndrome; Medulloblastoma", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Sufu", "ortholog_xenopus": "sufu", "ortholog_zebrafish": "sufu", "ortholog_drosophila": "Su(fu)", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.0598, "sd_percent_ciliated": 15.4141, "z_score": -0.115 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 48.6, "sd_percent_ciliated": 48.6, "z_score": 48.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8077, "sd_percent_ciliated": -0.8077, "z_score": -0.8077 } ] }, { "gene": "SUGCT", "ensembl_id": "ENSG00000175600", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "succinyl-CoA:glutarate-CoA transferase [Source:HGNC Symbol,Acc:HGNC:16001]", "omim_id": "609187", "functional_summary": "SUGCT has localized in cilia.", "localization": "cilia, Mitochondria", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02515", "domain_descriptions": ["CoA-transferase family III", "CoA-transferase family III domain 1 superfamily", "CoA-transferase family III domain 3 superfamily", "CoA-transferase III domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000175600", "synonym": "C7ORF10, DERP13, FLJ11808, ORF19", "ortholog_mouse": "Sugct", "ortholog_xenopus": "sugct", "ortholog_zebrafish": "sugct", "ortholog_drosophila": "CG10877", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.83, "sd_percent_ciliated": 1.83, "z_score": 1.83, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "SUGT1", "ensembl_id": "ENSG00000165416", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Source:HGNC Symbol,Acc:HGNC:16987]", "omim_id": "604098", "functional_summary": "SUGT1 has localized in basal body,flagella.", "localization": "basal body,flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Protein processing & maturation, Cardiac & muscle development", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF04969", "PF13432", "PF05002"], "domain_descriptions": ["CS domain", "SGS domain", "HSP20-like chaperone", "Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Protein Sgt1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000165416", "synonym": "SGT1", "ortholog_mouse": "Sugt1", "ortholog_c_elegans": "D1054.3", "ortholog_xenopus": "sugt1", "ortholog_zebrafish": "sugt1", "ortholog_drosophila": "Sgt1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.3807, "sd_percent_ciliated": 10.9743, "z_score": -0.1973, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 14.2, "sd_percent_ciliated": 14.2, "z_score": 14.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3135, "sd_percent_ciliated": -6.3135, "z_score": -6.3135, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "SUMO4", "ensembl_id": "ENSG00000177688", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "small ubiquitin like modifier 4 [Source:HGNC Symbol,Acc:HGNC:21181]", "omim_id": "608829", "functional_summary": "SUMO4 has localized in basal body,flagella.", "localization": "basal body,flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF11976", "domain_descriptions": ["Ubiquitin-like domain", "Rad60/SUMO-like domain", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000177688", "synonym": "DJ281H8.4, IDDM5, SMT3H4", "ortholog_zebrafish": "sumo2b", "ortholog_drosophila": "Sumo", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.9769, "sd_percent_ciliated": 6.3823, "z_score": 0.8442, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" } ] }, { "gene": "SYNE1", "ensembl_id": "ENSG00000131018", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "spectrin repeat containing nuclear envelope protein 1 [Source:HGNC Symbol,Acc:HGNC:17089]", "omim_id": "608441", "functional_summary": "Also known as Nesprin1. Integral components of ciliary rootlets of multiciliated cells. Interacts with rootletin (28625779). Essential for the relocalisation of centrosome proteins and components of microtubule motor complexes to the nuclear envelope, and interacts with PCM-1 (27802164). Mutations are associated with cerebellar and non-cerebellar pathologies of Not Reported molecular pathogenesis (29630990). Mediates centrosome migration and determi tionof centrosome/basal body positioning during early cell polarization, an essential step for ciliogenesis (19596800).", "localization": "cilia, Nucleus, P-body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "19596800, 30054381 ,28625779, 19596800", "complex_components": {}, "pfam_ids": ["PF00435", "PF10541", "PF25035", "PF00307", "PF25034"], "domain_descriptions": ["Spectrin repeat", "KASH domain", "Spectrin/alpha-actinin", "Nesprin-1/2 domain", "Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "CH domain superfamily", "Nesprin-1-like", "first calponin homology domain", "Nesprin-1-like", "second calponin homology domain", "Nesprin-1", "spectrin repeats region", "LINC complex-associated protein"], "string_link": "https://string-db.org/network/9606/ENSG00000131018", "synonym": "8B, ARCA1, C6ORF98, CPG2, DJ45H2.2, ENAPTIN, KIAA0796, MYNE1, NESP1, NESPRIN-1, SCAR8, SYNE-1B", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Syne1", "ortholog_c_elegans": "anc-1", "ortholog_xenopus": "syne1", "ortholog_zebrafish": "syne1a, syne1b", "ortholog_drosophila": "Msp300", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.7355, "sd_percent_ciliated": 7.461, "z_score": -1.487 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.82, "sd_percent_ciliated": 3.82, "z_score": 3.82 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.7671, "sd_percent_ciliated": -1.7671, "z_score": -1.7671 } ] }, { "gene": "SYNE2", "ensembl_id": "ENSG00000054654", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "spectrin repeat containing nuclear envelope protein 2 [Source:HGNC Symbol,Acc:HGNC:17084]", "omim_id": "608442", "functional_summary": "Also known as Nespirin2. Colocalises with meckelin at filopodia prior to the establishment of cell polarity and ciliogenesis. Mediates centrosome migration and determi tionof centrosome/basal body positioning during early cell polarization, an essential step for ciliogenesis. It may form a linking network between the centrosome and the actin cytoskeleton (19596800). Role in nuclear migration and positioning during reti l development. Interaction partner of Pcnt in photoreceptors. Pcnt鈥揝yne-2 complex is important for ciliogenesis and outer segment formation during reti l development and for the attachment of the centrosome to the nucleus in cycling cells (30054381).", "localization": "basal body ,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26365339 ,19596800", "complex_components": ["SYNE2", "TMEM67"], "pfam_ids": ["PF00307", "PF25034", "PF10541", "PF00435", "PF25035"], "domain_descriptions": ["Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "CH domain superfamily", "Nesprin-1", "spectrin repeats region", "Spectrin repeat", "KASH domain", "Spectrin/alpha-actinin", "Nesprin-1/2 domain"], "string_link": "https://string-db.org/network/9606/ENSG00000054654", "synonym": "DKFZP434H2235, KIAA1011, NESP2, NESPRIN-2, NUA, NUANCE, SYNE-2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Syne2", "ortholog_c_elegans": "anc-1", "ortholog_xenopus": "syne2", "ortholog_zebrafish": "syne2a, syne2b", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.0959, "z_score": 0.5024, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 48.9593, "z_score": 1.3267, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.1476 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.492, "z_score": 0.492, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.492 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6216, "z_score": -0.6216, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.6216 } ] }, { "gene": "SYNGAP1", "ensembl_id": "ENSG00000197283", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol,Acc:HGNC:11497]", "omim_id": "603384", "functional_summary": "SYNGAP1 has localized in basal body, cilia.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000197283", "synonym": "KIAA1938, RASA5, SYNGAP", "ortholog_mouse": "Syngap1", "ortholog_c_elegans": "gap-2", "ortholog_xenopus": "syngap1", "ortholog_zebrafish": "syngap1a, syngap1b", "ortholog_drosophila": "raskol", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.8641, "z_score": -1.6708, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.495, "z_score": -2.2431, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.6307 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.9, "z_score": 2.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.9 } ] }, { "gene": "SYNJ1", "ensembl_id": "ENSG00000159082", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "synaptojanin 1 [Source:HGNC Symbol,Acc:HGNC:11503]", "omim_id": "604297", "functional_summary": "SYNJ1, (Sy ptojanin-1 (SJ1)) may contribute to the control of ciliary protein dy mics in dopaminergic neurons, with implications on cilia-mediated sig ling (38635628).", "localization": "basal body, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.8635628E7", "complex_components": {}, "pfam_ids": ["PF08952", "PF02383", "PF22669"], "domain_descriptions": ["Inositol polyphosphate-related phosphatase", "RNA recognition motif domain", "SAC domain", "Nucleotide-binding alpha-beta plait domain superfamily", "Synaptojanin-1/2", "RNA recognition motif", "Synaptojanin-1", "RNA recognition motif", "RNA-binding domain superfamily", "Endonuclease/exonuclease/phosphatase superfamily", "Inositol 5-phosphatase"], "string_link": "https://string-db.org/network/9606/ENSG00000159082", "synonym": "INPP5G, PARK20", "ortholog_mouse": "Synj1", "ortholog_c_elegans": "unc-26", "ortholog_xenopus": "synj1", "ortholog_zebrafish": "synj1", "ortholog_drosophila": "Synj", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.9648, "sd_percent_ciliated": 0.452, "z_score": 0.3581, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.255, "sd_percent_ciliated": 0.255, "z_score": 0.255, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TAC1", "ensembl_id": "ENSG00000006128", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tachykinin precursor 1 [Source:HGNC Symbol,Acc:HGNC:11517]", "omim_id": "162320", "functional_summary": "SGO-1 likely participates in constraining TAC-1 to the basal body by influencing the function of the transition zone 鈥榗iliary gate鈥", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "3.7296204E7", "complex_components": ["TAC1", "TACR2"], "pfam_ids": "PF02202", "domain_descriptions": ["Tachykinin domain", "Tachykinin family", "Tachykinin/Neurokinin-like", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000006128", "synonym": "NKNA, NPK, TAC2", "ortholog_mouse": "Tac1", "ortholog_xenopus": "LOC116411693, tac1", "ortholog_zebrafish": "tac1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.0998, "sd_percent_ciliated": 8.2094, "z_score": -0.2313, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.13, "sd_percent_ciliated": 6.13, "z_score": 6.13, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7692, "sd_percent_ciliated": -0.7692, "z_score": -0.7692, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TACC3", "ensembl_id": "ENSG00000013810", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transforming acidic coiled-coil containing protein 3 [Source:HGNC Symbol,Acc:HGNC:11524]", "omim_id": "605303", "functional_summary": "TACC3 has localized in basal body, transition zone.", "localization": "basal body, transition zone, Centrosome, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["KAT2B", "TACC2", "TACC3"], "pfam_ids": "PF05010", "domain_descriptions": ["Transforming acidic coiled-coil-containing protein", "C-terminal", "TACC family"], "string_link": "https://string-db.org/network/9606/ENSG00000013810", "synonym": "ERIC-1, ERIC1, MASKIN, TACC4", "ortholog_mouse": "Tacc3", "ortholog_xenopus": "tacc3", "ortholog_zebrafish": "tacc3", "ortholog_drosophila": "tacc", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.5844, "z_score": 0.3427, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 47.0999, "z_score": 1.1014, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 6.2973 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.14, "z_score": 2.14, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 2.14 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.2356, "z_score": -2.2356, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.2356 } ] }, { "gene": "TACR1", "ensembl_id": "ENSG00000115353", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tachykinin receptor 1 [Source:HGNC Symbol,Acc:HGNC:11526]", "omim_id": "162323", "functional_summary": "TACR1 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["OPRM1", "TACR1", "TACR2"], "pfam_ids": "PF00001", "domain_descriptions": ["Neurokinin NK1 receptor", "G protein-coupled receptor", "rhodopsin-like", "Neurokinin receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000115353", "synonym": "NK1R, NKIR, SPR, TAC1R", "ortholog_mouse": "Spr, Tacr1", "ortholog_c_elegans": "tkr-1, tkr-2", "ortholog_xenopus": "spr, tacr1", "ortholog_zebrafish": "spra, sprb, tacr1a, tacr1b", "ortholog_drosophila": "CG12116, Sptr, TkR99D", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.1791, "sd_percent_ciliated": 6.3339, "z_score": 0.9898, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1762, "sd_percent_ciliated": -0.1762, "z_score": -0.1762, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TAF1A", "ensembl_id": "ENSG00000143498", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TATA-box binding protein associated factor, RNA polymerase I subunit A [Source:HGNC Symbol,Acc:HGNC:11532]", "omim_id": "604903", "functional_summary": "TAF1A has localized in basal body, transition zone,cilia.", "localization": "basal body, transition zone,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transition zone, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["TAF1A", "TAF1B", "TAF1C", "TBP"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000143498", "synonym": "SL1, TAFI48", "ortholog_mouse": "Taf1a", "ortholog_c_elegans": "tag-51", "ortholog_xenopus": "taf1a", "ortholog_zebrafish": "taf1a", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.4164, "sd_percent_ciliated": 3.9164, "z_score": -0.3141 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 10.6, "sd_percent_ciliated": 10.6, "z_score": 10.6 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0605, "sd_percent_ciliated": 0.0605, "z_score": 0.0605 } ] }, { "gene": "TAF8", "ensembl_id": "ENSG00000137413", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TATA-box binding protein associated factor 8 [Source:HGNC Symbol,Acc:HGNC:17300]", "omim_id": "609514", "functional_summary": "TAF8 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "T cell biology", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF10406", "PF07524"], "domain_descriptions": ["Bromodomain associated domain", "Histone-fold", "Transcription factor TFIID", "subunit 8", "C-terminal", "Transcription initiation factor TFIID subunit 8"], "string_link": "https://string-db.org/network/9606/ENSG00000137413", "synonym": "FLJ32821, TAF(II)43, TBN", "ortholog_mouse": "Taf8", "ortholog_c_elegans": "taf-8", "ortholog_xenopus": "taf8", "ortholog_zebrafish": "taf8", "ortholog_drosophila": "Taf8", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 17.1, "sd_percent_ciliated": 17.1, "z_score": 17.1, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2614, "sd_percent_ciliated": -0.2614, "z_score": -0.2614, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TAFAZZIN", "ensembl_id": "ENSG00000102125", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tafazzin, phospholipid-lysophospholipid transacylase [Source:HGNC Symbol,Acc:HGNC:11577]", "omim_id": "300394", "functional_summary": "Cytoplasmic retention of YAP/TAZ correlates with active ciliogenesis either in spatially confined cells or in cells treated with an actin filament destabilizer. Moreover, knockdown of YAP/TAZ is sufficient to induce ciliogenesis, whereas YAP/TAZ hyperactivation suppresses serum starvation- mediated ciliogenesis.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Cardiac & muscle development, Muscle contraction & physiology", "reference": "17646400, 23263489", "complex_components": {}, "pfam_ids": "PF01553", "domain_descriptions": ["Tafazzin", "Phospholipid/glycerol acyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000102125", "synonym": "BTHS, CMD3A, EFE, EFE2, G4.5, TAZ, TAZ1", "ortholog_mouse": "Tafazzin", "ortholog_c_elegans": "acl-3", "ortholog_xenopus": "tafazzin", "ortholog_zebrafish": "tafazzin", "ortholog_drosophila": "Taz", "screens": {} }, { "gene": "TAGLN2", "ensembl_id": "ENSG00000158710", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transgelin 2 [Source:HGNC Symbol,Acc:HGNC:11554]", "omim_id": "604634", "functional_summary": "TAGLN2 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00402", "PF00307"], "domain_descriptions": ["Calponin repeat", "Calponin homology domain", "Smooth muscle protein/calponin", "CH domain superfamily", "Calponin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000158710", "synonym": "HA1756, KIAA0120", "ortholog_mouse": "Tagln2", "ortholog_c_elegans": "cpn-2", "ortholog_xenopus": "tagln2", "ortholog_zebrafish": "tagln2", "ortholog_drosophila": "CG5023, Chd64, Mp20", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 46.0973, "sd_percent_ciliated": 12.1242, "z_score": 0.9799 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.2, "sd_percent_ciliated": 2.2, "z_score": 2.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.6741, "sd_percent_ciliated": -4.6741, "z_score": -4.6741 } ] }, { "gene": "TAOK1", "ensembl_id": "ENSG00000160551", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "TAO kinase 1 [Source:HGNC Symbol,Acc:HGNC:29259]", "omim_id": "610266", "functional_summary": "TAOK1 localized at cilia", "localization": "cilia, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "TAO Serine/Threonine-Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000160551", "synonym": "FLJ14314, HKFC-B, HTAOK1, KIAA1361, MAP3K16, MARKK, PSK2, TAO1", "ortholog_mouse": "Taok1", "ortholog_c_elegans": "kin-18", "ortholog_xenopus": "taok1", "ortholog_zebrafish": "taok1a, taok1b", "ortholog_drosophila": "Tao", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.2, "sd_percent_ciliated": 2.2, "z_score": 2.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.6369, "sd_percent_ciliated": 1.6369, "z_score": 1.6369, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TAPT1", "ensembl_id": "ENSG00000169762", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane anterior posterior transformation 1 [Source:HGNC Symbol,Acc:HGNC:26887]", "omim_id": "612758", "functional_summary": "Regulates intracellular protein trafficking and organisation of cellular organelles, it could also play a role in ciliary assembly and sig ling. Defective TAPT1 mislocalises to the cytoplasm, disrupts Golgi morphology, trafficking and normal ciliogenesis. Knockdown of tapt1b in zebrafish induces severe malformations of the craniofacial skeleton (26365339).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, ECM & connective tissue", "reference": "25849865, 26365339 ,26365339", "complex_components": {}, "pfam_ids": "PF05346", "domain_descriptions": "Tapt1 family", "string_link": "https://string-db.org/network/9606/ENSG00000169762", "synonym": "FLJ90013", "ciliopathy": "Complex Lethal Osteochondrodysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tapt1", "ortholog_c_elegans": "F26F2.7", "ortholog_xenopus": "tapt1", "ortholog_zebrafish": "tapt1a, tapt1b", "ortholog_drosophila": "CG7218", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.66, "sd_percent_ciliated": 5.66, "z_score": 5.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5512, "sd_percent_ciliated": -2.5512, "z_score": -2.5512, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TAS2R38", "ensembl_id": "ENSG00000257138", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "taste 2 receptor member 38 [Source:HGNC Symbol,Acc:HGNC:9584]", "omim_id": "607751", "functional_summary": "T2Rs , T2R4, T2R43, T2R38 and T2R46 , localize along the motile cilia of airway epithelia(19628819).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.9628819E7", "complex_components": {}, "pfam_ids": "PF05296", "domain_descriptions": ["Taste receptor type 2", "Taste receptor type 2 member 38"], "string_link": "https://string-db.org/network/9606/ENSG00000257138", "synonym": "PTC, T2R61", "ortholog_mouse": "Tas2r138", "ortholog_xenopus": "t2r10, t2r2, t2r30, t2r5, t2r6, tas2r4, tas2r7", "ortholog_zebrafish": "tas2r200.1, tas2r200.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 25.2801, "sd_percent_ciliated": 11.2308, "z_score": -1.5422 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.864, "sd_percent_ciliated": 0.864, "z_score": 0.864 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3563, "sd_percent_ciliated": -0.3563, "z_score": -0.3563 } ] }, { "gene": "TAS2R4", "ensembl_id": "ENSG00000127364", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "taste 2 receptor member 4 [Source:HGNC Symbol,Acc:HGNC:14911]", "omim_id": "604869", "functional_summary": "T2Rs , T2R4, T2R43, T2R38 and T2R46 , localize along the motile cilia of airway epithelia(19628819).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "1.9628819E7", "complex_components": {}, "pfam_ids": "PF05296", "domain_descriptions": ["Taste receptor type 2", "Taste receptor type 2 member 4"], "string_link": "https://string-db.org/network/9606/ENSG00000127364", "synonym": "T2R4", "ortholog_mouse": "Tas2r108", "ortholog_xenopus": "t2r10, t2r2, t2r5, t2r6, tas2r4", "ortholog_zebrafish": "tas2r200.1, tas2r200.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.6527, "sd_percent_ciliated": 9.1474, "z_score": -0.649 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.69, "sd_percent_ciliated": 2.69, "z_score": 2.69 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3481, "sd_percent_ciliated": -0.3481, "z_score": -0.3481 } ] }, { "gene": "TAS2R43", "ensembl_id": "ENSG00000282537", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "taste 2 receptor member 43 [Source:HGNC Symbol,Acc:HGNC:18875]", "functional_summary": "T2Rs , T2R4, T2R43, T2R38 and T2R46 , localize along the motile cilia of airway epithelia(19628819).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "1.9628819E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000282537", "synonym": "T2R52", "ortholog_mouse": "Tas2r120, Tas2r136", "ortholog_xenopus": "t2r10, t2r15, t2r2, t2r6, tas2r13, tas2r7", "ortholog_zebrafish": "tas2r200.1, tas2r200.2, tas2r202", "screens": {} }, { "gene": "TAS2R46", "ensembl_id": "ENSG00000278111", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "taste 2 receptor member 46 [Source:HGNC Symbol,Acc:HGNC:18877]", "omim_id": "612774", "functional_summary": "T2Rs , T2R4, T2R43, T2R38 and T2R46 , localize along the motile cilia of airway epithelia(19628819).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "1.9628819E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000278111", "synonym": "T2R54", "ortholog_mouse": "Tas2r120, Tas2r136", "ortholog_xenopus": "t2r10, t2r15, t2r2, t2r6, tas2r13, tas2r7", "ortholog_zebrafish": "tas2r200.1, tas2r200.2, tas2r202", "screens": {} }, { "gene": "TBC1D10A", "ensembl_id": "ENSG00000099992", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "TBC1 domain family member 10A [Source:HGNC Symbol;Acc:HGNC:23609]", "omim_id": "610020", "functional_summary": "Depletion of the GAP TBC1D10A has the opposite effect, resulting in a significant reduction of ARL13B in cilia (PMID: 31432619).", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "3.1432619E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000099992", "synonym": "AC004997.C22.2, EPI64, TBC1D10", "ortholog_mouse": "Tbc1d10a", "ortholog_c_elegans": "tbc-10", "ortholog_xenopus": "tbc1d10a", "ortholog_zebrafish": "tbc1d10aa, tbc1d10ab", "ortholog_drosophila": "wkd", "screens": [] }, { "gene": "TBC1D10B", "ensembl_id": "ENSG00000169221", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Unknown", "description": "TBC1 domain family member 10B [Source:HGNC Symbol;Acc:HGNC:24510]", "omim_id": "613620", "functional_summary": "TBC1D10B is a GTPase-activating protein (GAP) that inactivates Rab GTPases. It is involved in regulating endocytic recycling, a process crucial for maintaining ciliary membrane composition(PMID: 31432619).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "3.1432619E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000169221", "synonym": "DKFZP434P1750, EPI64B, FLJ13130, RAB27A-GAPBETA", "ortholog_mouse": "Tbc1d10b", "ortholog_c_elegans": "tbc-10", "ortholog_xenopus": "tbc1d10b", "ortholog_zebrafish": "tbc1d10b", "ortholog_drosophila": "wkd", "screens": [] }, { "gene": "TBC1D20", "ensembl_id": "ENSG00000125875", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "TBC1 domain family member 20 [Source:HGNC Symbol;Acc:HGNC:16133]", "omim_id": "611663", "functional_summary": "Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells. Further investigations reveal enhanced Rab11–MICAL1 interaction upon TBC1D20 loss, activating the monooxygenase domain of MICAL1 and inducing F-actin depolymerization around the centrosome. This actin network reorganization facilitates vesicle trafficking and docking, ultimately promoting ciliogenesis. In summary, our work uncovers a coordinated ciliogenesis initiation mechanism via Rab11 activation. These findings underscore a pivotal role for TBC1D20 in early ciliogenesis, advancing our understanding of its spatiotemporal regulation and offering insights into the disease pathogenesis associated with TBC1D20 mutations. TBC1D20 depletion significantly increased the percentage of ciliated cells after 24 h of serum starvation without altering the average cilium length. (39868814)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Viral interactions", "reference": "3.9868814E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000125875", "synonym": "C20ORF140; DJ852M4.2", "ortholog_mouse": "Tbc1d20", "ortholog_c_elegans": "tbc-20", "ortholog_xenopus": "tbc1d20", "ortholog_zebrafish": "tbc1d20", "ortholog_drosophila": "CG17883", "screens": [] }, { "gene": "TBC1D21", "ensembl_id": "ENSG00000167139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TBC1 domain family member 21 [Source:HGNC Symbol,Acc:HGNC:28536]", "omim_id": "620387", "functional_summary": "TBC1D21 has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF00566", "domain_descriptions": ["Rab-GAP-TBC domain", "Rab-GAP-TBC domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000167139", "synonym": "MGC34741, MGCRABGAP", "ortholog_mouse": "Tbc1d21", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.3618, "sd_percent_ciliated": 5.0858, "z_score": 0.0427 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.651, "sd_percent_ciliated": 0.651, "z_score": 0.651 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1199, "sd_percent_ciliated": -0.1199, "z_score": -0.1199 } ] }, { "gene": "TBC1D30", "ensembl_id": "ENSG00000111490", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TBC1 domain family member 30 [Source:HGNC Symbol,Acc:HGNC:29164]", "omim_id": "615077", "functional_summary": "PMID:17646400 involved in membrane trafficking, necessary for ciliogenesis (17646400). GAP protein that regulates activity of specific Rab GTPases including RAB3A22 and RAB8A (23263489).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "24285566, 32573025, 29487109, 20159594 ,17646400", "complex_components": {}, "pfam_ids": ["PF00566", "PF15733"], "domain_descriptions": ["Rab-GAP-TBC domain", "TBC1 domain family member 30", "C-terminal", "Rab-GAP-TBC domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111490", "synonym": "KIAA0984", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tbc1d30", "ortholog_xenopus": "tbc1d30", "ortholog_zebrafish": "tbc1d30", "ortholog_drosophila": "blobby", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TBC1D31", "ensembl_id": "ENSG00000156787", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "TBC1 domain family member 31 [Source:HGNC Symbol,Acc:HGNC:30888]", "functional_summary": "TBC1D31 has localized in cilia.", "localization": "cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00566", "PF00400"], "domain_descriptions": ["Rab-GAP-TBC domain", "WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Rab-GAP-TBC domain superfamily", "WD40-repeat-containing domain superfamily", "TBC1 domain family involved in cilium biogenesis"], "string_link": "https://string-db.org/network/9606/ENSG00000156787", "synonym": "GM85, MGC21654, WDR67", "ortholog_mouse": "Tbc1d31", "ortholog_xenopus": "tbc1d31", "ortholog_zebrafish": "tbc1d31", "ortholog_drosophila": "CG16896", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0524, "sd_percent_ciliated": 0.0524, "z_score": 0.0524, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TBC1D32", "ensembl_id": "ENSG00000146350", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "TBC1 domain family member 32 [Source:HGNC Symbol,Acc:HGNC:21485]", "omim_id": "615867", "functional_summary": "Mutations have been found in patients with a severe ciliopathy phenotype, including autosomal recessive OFD (24285566, 32573025). Interacts with Dzip1l to regulate neural tube patterning and ciliogenesis before the docking of ciliary vesicle to the basal body (29487109). Ciliary gene implicated in SHH sig ling, controls ciliary morphology and Gli2 localisation within the cilium. Required for proper association between the ciliary membrane and axoneme and axonemal shape (20159594).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Ciliary membrane", "reference": "17646400 ,24285566", "complex_components": {}, "pfam_ids": ["PF14961", "PF23440", "PF23431"], "domain_descriptions": ["BROMI", "middle region", "Rab-GAP-TBC domain superfamily", "PHAF1/Protein broad-minded", "BROMI", "N-terminal domain", "BROMI", "C-terminal Rab TBC-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000146350", "synonym": "BA57L9.1, BROMI, C6ORF170, C6ORF171, DJ310J6.1, FLJ30899, FLJ34235", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tbc1d32", "ortholog_xenopus": "tbc1d32", "ortholog_zebrafish": "tbc1d32", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.2, "sd_percent_ciliated": 4.2, "z_score": 4.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TBC1D4", "ensembl_id": "ENSG00000136111", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "TBC1 domain family member 4 [Source:HGNC Symbol,Acc:HGNC:19165]", "omim_id": "612465", "functional_summary": "TBC1D4 is a centrosome- and satellite-localized protein,a weak GAP for RAB19, that interacts with RAB19 to regulate ciliary membrane growth or CC mainte nce during primary ciliogenesis (33561422).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "3.3561422E7", "complex_components": {}, "pfam_ids": ["PF11830", "PF00640", "PF00566"], "domain_descriptions": ["Rab-GAP-TBC domain", "PTB/PI domain", "PH-like domain superfamily", "Domain of Not Reported function DUF3350", "Rab-GAP-TBC domain superfamily", "Rab GTPase-activating TBC domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000136111", "synonym": "AS160, DKFZP779C0666, KIAA0603", "ortholog_mouse": "Tbc1d4", "ortholog_xenopus": "tbc1d4", "ortholog_zebrafish": "tbc1d4", "ortholog_drosophila": "plx", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 27.2586, "sd_percent_ciliated": 7.0703, "z_score": -1.3025 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.25, "sd_percent_ciliated": 5.25, "z_score": 5.25 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8489, "sd_percent_ciliated": -1.8489, "z_score": -1.8489 } ] }, { "gene": "TBC1D7", "ensembl_id": "ENSG00000145979", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TBC1 domain family member 7 [Source:HGNC Symbol,Acc:HGNC:21066]", "omim_id": "612655", "functional_summary": "GTPase-activating protein that controls specific Rabs involved in primary cilium formation. TBC1D7 specifically acts on Rab17.", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "20168327, 32681070 ,17646400", "complex_components": ["TBC1D7", "TSC1", "TSC2"], "pfam_ids": "PF00566", "domain_descriptions": ["Rab-GAP-TBC domain", "Rab-GAP-TBC domain superfamily", "TBC1 domain family member 7", "TBC1 domain family member 7", "domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000145979", "synonym": "DJ257A7.3, FLJ32666, TBC7", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tbc1d7", "ortholog_xenopus": "tbc1d7", "ortholog_zebrafish": "tbc1d7", "ortholog_drosophila": "TBC1d7", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.6306, "sd_percent_ciliated": 9.6975, "z_score": -0.5305, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.288, "sd_percent_ciliated": 0.288, "z_score": 0.288, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2976, "sd_percent_ciliated": -1.2976, "z_score": -1.2976, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TBCCD1", "ensembl_id": "ENSG00000113838", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "TBCC domain containing 1 [Source:HGNC Symbol,Acc:HGNC:25546]", "omim_id": "619848", "functional_summary": "Required for centrosome and Golgi apparatus perinuclear positioning. Depletion reduces primary cilia assembly efficiency/ability and affectes cell shape and migration. TBCCD1-silenced cells showed disorganised Golgi apparatus (20168327). Candidate for primary cause of centrosome amplification due to gain of function (32681070).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "25270598, 22529102, 29472535", "complex_components": {}, "pfam_ids": "PF07986", "domain_descriptions": ["CARP motif", "Tubulin binding cofactor C-like domain", "Cyclase-associated protein CAP/septum formation inhibitor MinC", "C-terminal", "C-CAP/cofactor C-like domain", "Adenylate cyclase-associated CAP", "C-terminal superfamily", "TBCC domain-containing protein 1"], "string_link": "https://string-db.org/network/9606/ENSG00000113838", "synonym": "FLJ10560", "ortholog_mouse": "Tbccd1", "ortholog_c_elegans": "C54G6.2", "ortholog_xenopus": "tbccd1", "ortholog_zebrafish": "tbccd1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.75, "sd_percent_ciliated": 3.75, "z_score": 3.75, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3526, "sd_percent_ciliated": -6.3526, "z_score": -6.3526, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TBP", "ensembl_id": "ENSG00000112592", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TATA-box binding protein [Source:HGNC Symbol,Acc:HGNC:11588]", "omim_id": "600075", "functional_summary": "Mutations in the TBP gene cause Spinocerebellar Ataxia (PMID: 19917997).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.9917997E7", "complex_components": ["ERCC2", "ERCC3", "GTF2B", "GTF2E1", "GTF2E2", "GTF2F1", "GTF2F2", "GTF2H1", "GTF2H2", "GTF2H3", "GTF2H4", "POLR2A", "POLR2B", "POLR2C", "POLR2D", "POLR2E", "POLR2F", "POLR2G", "POLR2H", "POLR2I", "POLR2J", "POLR2K", "POLR2L", "TBP", "TAF1", "TAF10", "TAF11", "TAF2", "TAF4", "TAF5", "TAF6", "TAF9", "TAF12", "TAF13", "TAF7", "Taf1", "Taf10", "Taf11", "Taf12", "Taf2", "Taf4", "Taf5", "Taf6", "Taf7", "Taf8", "Taf9", "Tbp", "TAF15", "TAF9B", "TAF4B", "GTF2A1", "GTF2A2", "TAF3", "HMGB1", "SPI1", "BDP1", "BRF1", "GTF3A", "GTF3C1", "GTF3C2", "GTF3C3", "GTF3C4", "GTF3C5", "CHD3", "CPSF2", "EFTUD2", "HDAC1", "HDAC2", "KDM1A", "KMT2A", "MBD3", "MTA2", "RAN", "RBBP4", "RBBP5", "RBBP7", "SAP18", "SAP30", "SIN3A", "SMARCA2", "SMARCA5", "SMARCB1", "SMARCC1", "SMARCC2", "SYMPK", "WDR5", "DDX20", "DHX9", "GEMIN2", "GEMIN4", "SNRPB", "SNRPB2", "SNRPN", "BRCA1", "MED21", "CCNC", "CDK8", "DRAP1", "PCSK4", "SMARCD1", "ACTL6A", "SMARCE1", "CREBBP", "KAT2B", "SMARCA4", "TAF1A", "TAF1B", "TAF1C", "ACTB"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000112592", "synonym": "GTF2D1, SCA17, TBP1, TFIID", "ortholog_mouse": "Tbp", "ortholog_c_elegans": "tbp-1", "ortholog_xenopus": "tbp", "ortholog_zebrafish": "tbp", "ortholog_drosophila": "Tbp", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.3986, "sd_percent_ciliated": 3.9053, "z_score": -0.4375, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.179, "sd_percent_ciliated": 0.179, "z_score": 0.179, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.2986, "sd_percent_ciliated": -3.2986, "z_score": -3.2986, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TCEA2", "ensembl_id": "ENSG00000171703", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transcription elongation factor A2 [Source:HGNC Symbol,Acc:HGNC:11614]", "omim_id": "604784", "functional_summary": "TCEA2 has localized in cilia.", "localization": "cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF08711", "PF07500", "PF01096"], "domain_descriptions": ["Zinc finger", "TFIIS-type", "Transcription elongation factor", "TFIIS/CRSP70", "N-terminal", "sub-type", "Transcription elongation factor S-II", "central domain", "Transcription elongation factor", "TFIIS", "Transcription factor IIS", "N-terminal", "Transcription elongation factor", "IIS-type", "TFIIS/LEDGF domain superfamily", "Transcription elongation factor S-II", "central domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000171703", "synonym": "TFIIS", "ortholog_mouse": "Tcea2", "ortholog_c_elegans": "T24H10.1", "ortholog_xenopus": "tcea3", "ortholog_drosophila": "TfIIS", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.6072, "sd_percent_ciliated": 8.1827, "z_score": 1.284 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.785, "sd_percent_ciliated": 0.785, "z_score": 0.785 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.3, "sd_percent_ciliated": -2.3, "z_score": -2.3 } ] }, { "gene": "TCHP", "ensembl_id": "ENSG00000139437", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "trichoplein keratin filament binding [Source:HGNC Symbol,Acc:HGNC:28135]", "omim_id": "612654", "functional_summary": "Negative regulator of ciliogenesis. Polyubiquiti ted at the mother centriole by CRL3-KCTD17. Depletion induces aberrant ciliogenesis, whereas overexpression blocks ciliogenesis (25270598). Interacts with Odf2 and ninein. Controls Aurora A (AurA) activation at the centrioles in G1 phase. Trichoplein鈥揂urA pathway is required for cell cycle progression through the suppression of primary cilia assembly (22529102). TCHP is deubiquiti ted and stabilized by USP8, critical to restrict ciliogenesis in dividing cells (29472535).", "localization": "basal body, cilia, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "25205765, 29742051, 25830415, 26044572. ,22529102, 26880200", "complex_components": {}, "pfam_ids": "PF13868", "domain_descriptions": ["CFAP53/TCHP", "Trichohyalin-plectin-homology domain"], "string_link": "https://string-db.org/network/9606/ENSG00000139437", "synonym": "MGC10854, TPMS", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tchp", "ortholog_xenopus": "tchp", "ortholog_zebrafish": "tchp", "ortholog_drosophila": "CG17230", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4053, "sd_percent_ciliated": 0.4053, "z_score": 0.4053, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TCTE1", "ensembl_id": "ENSG00000146221", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "t-complex-associated-testis-expressed 1 [Source:HGNC Symbol,Acc:HGNC:11693]", "omim_id": "186975", "functional_summary": "T-Complex-Associated-Testis-Expressed 1 (TCTE1) is an evolutio rily conserved axonemal protein present from Chlamydomo s (DRC5) to mammals that localizes to the N-DRC and mouse TCTE1 is testis-enriched in its expression, with its mR appearing in early round spermatids and protein localized to the flagellum (28630322).", "localization": "flagella", "functional_category": "Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.8630322E7", "complex_components": {}, "pfam_ids": "PF13516", "domain_descriptions": ["Leucine-rich repeat", "Leucine-rich repeat domain superfamily", "Dynein regulatory complex subunit 5"], "string_link": "https://string-db.org/network/9606/ENSG00000146221", "synonym": "D6S46, DRC5, FAP155, MGC33600", "ortholog_mouse": "Tcte1", "ortholog_xenopus": "tcte1", "ortholog_zebrafish": "drc5", "ortholog_drosophila": "CG14325", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.97, "sd_percent_ciliated": 2.97, "z_score": 2.97, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4128, "sd_percent_ciliated": 0.4128, "z_score": 0.4128, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TCTN1", "ensembl_id": "ENSG00000204852", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tectonic family member 1 [Source:HGNC Symbol,Acc:HGNC:26113]", "omim_id": "609863", "functional_summary": "Required for cilium-dependent Hh sig l transduction, for transition zone localisation of interacting proteins. Form a complex with Tctn3, Mks1, Tmem216, Tmem67, Cep290, Cc2d2a, B9d1 and Tctn2, which regulates ciliogenesis and ciliary membrane composition. Mutations have been identified to cause JBTS (21725307). Mutations disrupts ciliogenesis and Hh", "localization": "transition zone, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Ciliary membrane, Transition zone", "reference": "21725307, 28800946, 29725084, 21565611, 32655147, 21725307 ,21725307", "complex_components": {}, "pfam_ids": "PF07773", "domain_descriptions": ["Tectonic domain", "Tectonic"], "string_link": "https://string-db.org/network/9606/ENSG00000204852", "synonym": "FLJ21127, JBTS13, TECT1", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tctn1", "ortholog_c_elegans": "tctn-1", "ortholog_xenopus": "tctn1", "ortholog_zebrafish": "tctn1", "ortholog_drosophila": "tctn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 20.7, "sd_percent_ciliated": 20.7, "z_score": 20.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0881, "sd_percent_ciliated": -0.0881, "z_score": -0.0881, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TCTN2", "ensembl_id": "ENSG00000168778", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "tectonic family member 2 [Source:HGNC Symbol,Acc:HGNC:25774]", "omim_id": "613846", "functional_summary": "Form a complex with Tctn3, Mks1, Tmem216, Tmem67, Cep290, Cc2d2a, B9d1 and Tctn1 to regulate ciliogenesis and ciliary membrane composition (21725307). Mutations disrupts ciliogenesis, Hh sig ling (28800946) and neural tube patterning (29725084). Regulator of Shh pathway. Role in selective trafficking of ciliary proteins to cilia, required for ciliogenesis (29725084). Indispensible for ciliogenesis in the neural tube (21565611). Mutations have also been identified as cause of Meckel鈥揋ruber syndrome (32655147).", "localization": "transition zone , cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane, Transition zone", "reference": "21725307, 28800946, 30286481, 22883145, 25118024, 21462283 ,25118024; 21462283", "complex_components": {}, "pfam_ids": "PF07773", "domain_descriptions": ["Tectonic domain", "Tectonic"], "string_link": "https://string-db.org/network/9606/ENSG00000168778", "synonym": "C12ORF38, FLJ12975, JBTS24, MKS8, TECT2", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tctn2", "ortholog_xenopus": "tctn2", "ortholog_zebrafish": "tctn2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 79.7, "sd_percent_ciliated": 79.7, "z_score": 79.7, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5588, "sd_percent_ciliated": -0.5588, "z_score": -0.5588, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TCTN3", "ensembl_id": "ENSG00000119977", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "tectonic family member 3 [Source:HGNC Symbol,Acc:HGNC:24519]", "omim_id": "613847", "functional_summary": "Form a complex with Tctn2, Mks1, Tmem216, Tmem67, Cep290, Cc2d2a, B9d1 and Tctn1 to regulate ciliogenesis and ciliary membrane composition (21725307). Mutations disrupts ciliogenesis and Hh sig ling (28800946) and are also the causes of Joubert syndrome (30286481). Regulator of Shh pathway. Role in selective trafficking of ciliary proteins to cilia, required for ciliogenesis (29725084). Role for GLI3 processing and function. Mutations cause severe orofaciodigital syndrome, Mohr-Majewski syndrome (22883145).", "localization": "basal body, cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane", "reference": "29121203, 22883145, 34096792 ,22883145; 34096792", "complex_components": {}, "pfam_ids": "PF07773", "domain_descriptions": ["Tectonic domain", "Tectonic"], "string_link": "https://string-db.org/network/9606/ENSG00000119977", "synonym": "C10ORF61, DKFZP564D116, JBTS18, TECT3", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome; Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tctn3", "ortholog_c_elegans": "tctn-1", "ortholog_xenopus": "tctn3", "ortholog_drosophila": "tctn", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 37, "sd_percent_ciliated": 37, "z_score": 37, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.3926, "sd_percent_ciliated": -2.3926, "z_score": -2.3926, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TDO2", "ensembl_id": "ENSG00000151790", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tryptophan 2,3-dioxygenase [Source:HGNC Symbol,Acc:HGNC:11708]", "omim_id": "191070", "functional_summary": "TDO2 has localized in ciliary tip,basal body, transition zone.", "localization": "cilia, basal body, transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000151790", "synonym": "TDO, TPH2", "ortholog_mouse": "Tdo2, Tph2", "ortholog_c_elegans": "tdo-2, tph-1", "ortholog_xenopus": "tdo2, tph2", "ortholog_zebrafish": "tdo2a, tdo2b, tph2", "ortholog_drosophila": "Trhn, v", "screens": {} }, { "gene": "TDP1", "ensembl_id": "ENSG00000042088", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tyrosyl-DNA phosphodiesterase 1 [Source:HGNC Symbol,Acc:HGNC:18884]", "omim_id": "607198", "functional_summary": "Mutations in the TDP1 gene cause Spinocerebellar Ataxia (PMID: 12244316).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "1.2244316E7", "complex_components": ["LIG3", "PNKP", "TDP1", "XRCC1", "PARP1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000042088", "synonym": "FLJ11090, SCAN1", "ortholog_mouse": "Tdp1", "ortholog_c_elegans": "tdpo-1", "ortholog_xenopus": "tdp1", "ortholog_zebrafish": "tdp1", "ortholog_drosophila": "Tdp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.0141, "sd_percent_ciliated": 8.5197, "z_score": 0.6064, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.23, "sd_percent_ciliated": 2.23, "z_score": 2.23, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.9878, "sd_percent_ciliated": -4.9878, "z_score": -4.9878, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TEK", "ensembl_id": "ENSG00000120156", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TEK receptor tyrosine kinase [Source:HGNC Symbol,Acc:HGNC:11724]", "omim_id": "600221", "functional_summary": "TEK has localized in basal body.", "localization": "basal body, Ribosome, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["DOK2", "NCK1", "PAK1", "TEK", "CYP1B1", "ITGAV", "ITGB3", "PTK2", "ANGPT2", "ANGPT1", "PTPRB", "CBL", "TIE1"], "pfam_ids": ["PF07714", "PF00041", "PF10430"], "domain_descriptions": ["Protein kinase domain", "EGF-like domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Laminin-type EGF domain", "Fibronectin type III", "Immunoglobulin-like domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin-like fold", "Protein kinase", "ATP binding site", "Tyrosine-protein kinase", "catalytic domain", "Fibronectin type III superfamily", "Immunoglobulin-like domain superfamily", "Receptor Tyrosine Kinase", "Tyrosine-protein kinase", "receptor Tie-2", "Ig-like domain 1", "N-terminal", "Multiple EGF-like domains/Integrin beta-like"], "string_link": "https://string-db.org/network/9606/ENSG00000120156", "synonym": "CD202B, TIE-2, TIE2, VMCM, VMCM1", "ortholog_mouse": "Tek", "ortholog_c_elegans": "R151.1", "ortholog_xenopus": "tek", "ortholog_zebrafish": "tek", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.6009, "sd_percent_ciliated": 2.9486, "z_score": 0.314, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.937, "sd_percent_ciliated": 0.937, "z_score": 0.937, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.472, "sd_percent_ciliated": -1.472, "z_score": -1.472, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TEKT1", "ensembl_id": "ENSG00000167858", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "tektin 1 [Source:HGNC Symbol,Acc:HGNC:15534]", "omim_id": "609002", "functional_summary": "Positive regulator of cilium length. Its expression is controlled by the transcription factor FOXJ1. In zebrafish, it is required for fully efficient motility of cilia in various organs, and for ciliogenesis or mainte nce of motile cilia in the KV. Mutations of which may cause ciliary dyskinesia (29121203).", "localization": "cilia, flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Transcription regulation", "reference": "1.5340058E7", "complex_components": {}, "pfam_ids": "PF03148", "domain_descriptions": ["Tektins", "Tektin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000167858", "ortholog_mouse": "Tekt1", "ortholog_c_elegans": "R02E12.4", "ortholog_xenopus": "tekt1", "ortholog_zebrafish": "tekt1", "ortholog_drosophila": "Tektin-C", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.9274, "z_score": 0.4498, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 46.9077, "z_score": 1.0781, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.5068 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.036, "z_score": 0.036, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.036 } ] }, { "gene": "TEKT2", "ensembl_id": "ENSG00000092850", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tektin 2 [Source:HGNC Symbol,Acc:HGNC:11725]", "functional_summary": "Also known as Tektin-t. Forms filaments in flagellar, ciliary,and axonemal . Required for normal flagellar structure and function. Participates in dynein inner arm assembly or attachment to . Loss of Tektin-t results in impaired motility of cilia and flagella due to deficiency in flagellar construction. Candidate gene for PCD (15340058).", "localization": "cilia ,flagella, basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "22774605, 16596631 ,15340058", "complex_components": {}, "pfam_ids": "PF03148", "domain_descriptions": ["Tektins", "Tektin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000092850", "synonym": "TEKTB1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tekt2", "ortholog_c_elegans": "R02E12.4", "ortholog_xenopus": "tekt2", "ortholog_zebrafish": "tekt2", "ortholog_drosophila": "CG3085", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6374, "sd_percent_ciliated": -1.6374, "z_score": -1.6374, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TEKT3", "ensembl_id": "ENSG00000125409", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "tektin 3 [Source:HGNC Symbol,Acc:HGNC:14293]", "omim_id": "612683", "functional_summary": "Tektins are the accessory structures of the flagellum (16452089). We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes; Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia; Ppef2 and Tekt3 were localized to basal bodies of cilia; and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). However, because of the polygenic genetic architecture and low penetrance of nonsyndromic TOF, it was impossible to construct mouse models for each candidate ciliary gene to verify its pathogenic role in TOF. We therefore selected six previously unidentified genes (namely AGBL2, MLF1, PKHD1L1, PPEF2, SPTBN5, and TEKT3) with recurrent mutations for mouse models construction and phenotype validation, both to illustrate the reliability of our screening strategy and to provide in vivo evidence supporting the contribution of ciliary gene variants to TOF pathogenesis. (41071877)", "localization": "flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "16452089, 41071877", "complex_components": {}, "pfam_ids": "PF03148", "domain_descriptions": ["Tektins", "Tektin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000125409", "synonym": "FLJ32828", "ortholog_mouse": "Tekt3", "ortholog_c_elegans": "R02E12.4", "ortholog_xenopus": "tekt3", "ortholog_zebrafish": "tekt3", "ortholog_drosophila": "CG32819, CG32820", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.7753, "sd_percent_ciliated": 1.6726, "z_score": 0.6986 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.375, "sd_percent_ciliated": 0.375, "z_score": 0.375 } ] }, { "gene": "TEKT4", "ensembl_id": "ENSG00000163060", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "description": "tektin 4 [Source:HGNC Symbol,Acc:HGNC:31012]", "functional_summary": "Axonemal protein required for flagella motility in mouse sperm. Expression reduced in i sthenozoospermic men (22774605, 16596631)", "localization": "cilia, flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.0378928E7", "complex_components": {}, "pfam_ids": "PF03148", "domain_descriptions": ["Tektins", "Tektin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000163060", "synonym": "MGC27019", "ortholog_mouse": "Tekt4", "ortholog_c_elegans": "R02E12.4", "ortholog_xenopus": "tekt4", "ortholog_zebrafish": "tekt4", "ortholog_drosophila": "Tektin-A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.906, "sd_percent_ciliated": 0.906, "z_score": 0.906, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5308, "sd_percent_ciliated": -3.5308, "z_score": -3.5308, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TEKT5", "ensembl_id": "ENSG00000153060", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "description": "tektin 5 [Source:HGNC Symbol,Acc:HGNC:26554]", "omim_id": "618686", "functional_summary": "Role in flagella assembly during spermiogenesis and is implicated in sperm motility (20378928).", "localization": "flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "25849865 ,17924527", "complex_components": {}, "pfam_ids": "PF03148", "domain_descriptions": ["Tektins", "Tektin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000153060", "synonym": "CT149, FLJ32871", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tekt5", "ortholog_c_elegans": "R02E12.4", "ortholog_drosophila": "CG32819, CG32820", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.617, "sd_percent_ciliated": 0.617, "z_score": 0.617, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6115, "sd_percent_ciliated": -0.6115, "z_score": -0.6115, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TESK1", "ensembl_id": "ENSG00000107140", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "testis associated actin remodelling kinase 1 [Source:HGNC Symbol,Acc:HGNC:11731]", "omim_id": "601782", "functional_summary": "Role in the actin dy mics and actin cytoskeleton remodelling, via i ctivation of the actin-severing protein CFL. Supresses ciliogenesis by upregulating the expression of YAP/TAZ target genes, as well as modulating directio l trafficking of ciliary vesicles to the ciliary base. TESK1 overexpression interferes with serum starvation-mediated ciliogenesis (25849865).", "localization": "basal body, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "31784664, 15965172, 23746451", "complex_components": {}, "pfam_ids": ["PF07714", "PF00069"], "domain_descriptions": ["Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Tyrosine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Actin-regulating Serine/Threonine Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000107140", "ortholog_mouse": "Tesk1", "ortholog_xenopus": "LOC101730247", "ortholog_zebrafish": "tesk1a, tesk1b", "ortholog_drosophila": "cdi", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 5.5247, "z_score": 1.2607, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 69.2924, "z_score": 3.7902, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.0805 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.428, "z_score": 0.428, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.428 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.847, "z_score": -2.847, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.847 } ] }, { "gene": "TEX12", "ensembl_id": "ENSG00000150783", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "description": "testis expressed 12 [Source:HGNC Symbol,Acc:HGNC:11734]", "omim_id": "605791", "functional_summary": "TEX12 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15219", "domain_descriptions": "Testis-expressed sequence 12 protein", "string_link": "https://string-db.org/network/9606/ENSG00000150783", "ortholog_mouse": "Tex12", "ortholog_xenopus": "tex12", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.9779, "sd_percent_ciliated": 3.4681, "z_score": -0.8519 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.415, "sd_percent_ciliated": 0.415, "z_score": 0.415 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -14.7902, "sd_percent_ciliated": -14.7902, "z_score": -14.7902 } ] }, { "gene": "TEX9", "ensembl_id": "ENSG00000151575", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "testis expressed 9 [Source:HGNC Symbol,Acc:HGNC:29585]", "omim_id": "620935", "functional_summary": "TEX9 colocalize with cilia in HK2 cells(28460059).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8460059E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000151575", "ortholog_mouse": "Tex9", "ortholog_xenopus": "tex9", "ortholog_zebrafish": "tex9", "ortholog_drosophila": "Tex9", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 38.5402, "sd_percent_ciliated": 3.3687, "z_score": 0.0643, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.19, "sd_percent_ciliated": 0.19, "z_score": 0.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.953, "sd_percent_ciliated": -1.953, "z_score": -1.953, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TFDP1", "ensembl_id": "ENSG00000198176", "overexpression_effects": "Unknown", "lof_effects": "Supernumerary cilia", "percent_ciliated_cells_effects": "Unknown", "description": "transcription factor Dp-1 [Source:HGNC Symbol;Acc:HGNC:11749]", "omim_id": "189902", "functional_summary": "Loss of TFDP1 gene cause supernumerary cilia(PMID: 37771269).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.7771269E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000198176", "synonym": "DILC; DP-1; DP1; DRTF1", "ortholog_mouse": "Tfdp1", "ortholog_c_elegans": "dpl-1", "ortholog_xenopus": "tfdp1", "ortholog_zebrafish": "tfdp1a, tfdp1b", "ortholog_drosophila": "Dp", "screens": [] }, { "gene": "TGFA", "ensembl_id": "ENSG00000163235", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transforming growth factor alpha [Source:HGNC Symbol,Acc:HGNC:11765]", "omim_id": "190170", "functional_summary": "In in vitro model systems, inhibition of ciliogenesis resulted in increased expression of Hedgehog-target genes through a mechanism involving loss of the repressor form of the GLI transcription factor (GLIR) and activation of Hedgehog target gene expression through cross-talk with TGF-alpha (TGFA) sig ling ( 28611083).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.8611083E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000163235", "ortholog_mouse": "Tgfa", "ortholog_xenopus": "tgfa", "ortholog_zebrafish": "tgfa", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 22.5802, "sd_percent_ciliated": 8.3629, "z_score": -1.8693 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.5273, "sd_percent_ciliated": -8.5273, "z_score": -8.5273 } ] }, { "gene": "TGFB1", "ensembl_id": "ENSG00000105329", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "transforming growth factor beta 1 [Source:HGNC Symbol,Acc:HGNC:11766]", "omim_id": "190180", "functional_summary": "Involved in defective differentiation of ciliated cells (31784664). Regulates the transformation of RPE into fibrous cells (15965172). Increases receptor localisation and activation of SMAD2/3 and ERK1/2 at the ciliary base. TGF-B sig ling is regulated by the primary cilium. Involved in clathrin-dependent endocytosis (CDE) (23746451).", "localization": "basal body, cilia, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Neurogenesis & migration, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "23746451, 27364476", "complex_components": ["ITGAV", "ITGB8", "MMP14", "TGFB1", "TGFBR2", "TGFBR1", "IGF2R", "PLAU", "PLAUR", "PLG", "LGR4"], "pfam_ids": ["PF00688", "PF00019"], "domain_descriptions": ["TGF-beta", "propeptide", "Transforming growth factor-beta", "C-terminal", "Transforming growth factor beta-1 proprotein", "Transforming growth factor-beta-related", "Transforming growth factor-beta", "Transforming growth factor beta", "conserved site", "Cystine-knot cytokine"], "string_link": "https://string-db.org/network/9606/ENSG00000105329", "synonym": "CED, DPD1, TGFB, TGFBETA", "ortholog_mouse": "Tgfb1", "ortholog_xenopus": "tgfb1", "ortholog_zebrafish": "tgfb1a, tgfb1b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.3809, "sd_percent_ciliated": 8.9311, "z_score": 1.3778 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.18, "sd_percent_ciliated": 2.18, "z_score": 2.18 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3985, "sd_percent_ciliated": -1.3985, "z_score": -1.3985 } ] }, { "gene": "TGFBR1", "ensembl_id": "ENSG00000106799", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transforming growth factor beta receptor 1 [Source:HGNC Symbol,Acc:HGNC:11772]", "omim_id": "190181", "functional_summary": "Phosphorylates and activates downstream effectors MEK1/2-ERK1/2 and receptor SMADs, SMAD2/3 (23746451). Involved in CDE (27364476).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue", "reference": "23746451, 27364476", "complex_components": ["SMAD7", "SMURF2", "TGFBR1", "TGFBR2", "PARD6A", "SMURF1", "AXIN1", "SMAD3", "TGFB3", "TGFB1", "ACVR2B", "MSTN", "GDF11", "FKBP1A", "GPR50"], "pfam_ids": ["PF08515", "PF01064", "PF00069", "PF07714"], "domain_descriptions": ["Ser/Thr protein kinase", "TGFB receptor", "Activin types I and II receptor domain", "Protein kinase domain", "GS domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Snake toxin-like superfamily", "Serine-threonine/tyrosine-protein kinase", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000106799", "synonym": "ACVRLK4, ALK-5, ALK5, ESS1, MSSE, TBR-I, TBRI", "ortholog_mouse": "Tgfbr1", "ortholog_c_elegans": "daf-1, sma-6", "ortholog_xenopus": "tgfbr1", "ortholog_zebrafish": "tgfbr1a, tgfbr1b", "ortholog_drosophila": "babo", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.0682, "sd_percent_ciliated": 2.4534, "z_score": -0.3563 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.67, "sd_percent_ciliated": 1.67, "z_score": 1.67 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.2429, "sd_percent_ciliated": -1.2429, "z_score": -1.2429 } ] }, { "gene": "TGFBR2", "ensembl_id": "ENSG00000163513", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transforming growth factor beta receptor 2 [Source:HGNC Symbol,Acc:HGNC:11773]", "omim_id": "190182", "functional_summary": "Phosphorylates and activates downstream effectors MEK1/2-ERK1/2 and receptor SMADs, SMAD2/3 (23746451). Involved in CDE (27364476).", "localization": "transition zone, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transition zone, ECM & connective tissue, Transcription regulation", "reference": "26518474, 26595381, 28954202, 22698544, 31887266", "complex_components": ["SMAD7", "SMURF2", "TGFBR1", "TGFBR2", "PARD6A", "SMURF1", "TGFB3", "TGFB1", "Tgfbr2", "SMAD3", "IL15RA", "PTH1R"], "pfam_ids": ["PF08917", "PF07714"], "domain_descriptions": ["Ser/Thr protein kinase", "TGFB receptor", "Protein kinase domain", "Serine-threonine/tyrosine-protein kinase", "catalytic domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Transforming growth factor beta receptor 2 ectodomain", "Transforming growth factor-beta receptor", "type II", "Protein kinase", "ATP binding site", "Snake toxin-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000163513", "synonym": "MFS2, TBR-II, TBRII", "ortholog_mouse": "Tgfbr2", "ortholog_c_elegans": "daf-4", "ortholog_xenopus": "tgfbr2", "ortholog_zebrafish": "tgfbr2a, tgfbr2b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.9864, "sd_percent_ciliated": 0.7263, "z_score": 0.4819 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.34, "sd_percent_ciliated": 1.34, "z_score": 1.34 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.0999, "sd_percent_ciliated": -5.0999, "z_score": -5.0999 } ] }, { "gene": "TGIF1", "ensembl_id": "ENSG00000177426", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "TGFB induced factor homeobox 1 [Source:HGNC Symbol,Acc:HGNC:11776]", "omim_id": "602630", "functional_summary": "Reducing Evi5l expression in MEFs lacking Tgifs resulted in a partial restoration of cilium numbers and in the transcriptio l response to activation of the Shh pathway.", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "27956704, 10835638, 16323008 ,10835638, 16323008", "complex_components": ["FOXH1", "SMAD2", "SMAD4", "TGIF1", "HDAC1", "AR"], "pfam_ids": "PF05920", "domain_descriptions": ["Homeodomain", "KN homeodomain", "Homedomain-like superfamily", "Three Amino acid Loop Extension (TALE) homeobox"], "string_link": "https://string-db.org/network/9606/ENSG00000177426", "synonym": "HPE4, TGIF", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tgif1", "ortholog_xenopus": "tgif1", "ortholog_zebrafish": "tgif1", "ortholog_drosophila": "achi, vis", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 34.6, "sd_percent_ciliated": 34.6, "z_score": 34.6, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.706, "sd_percent_ciliated": -10.706, "z_score": -10.706, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TGIF2", "ensembl_id": "ENSG00000118707", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "TGFB induced factor homeobox 2 [Source:HGNC Symbol,Acc:HGNC:15764]", "omim_id": "607294", "functional_summary": "Reducing Evi5l expression in MEFs lacking Tgifs resulted in a partial restoration of cilium numbers and in the transcriptio l response to activation of the Shh pathway.TGIF2 localized to basal body (25613900)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.7956704E7", "complex_components": {}, "pfam_ids": "PF05920", "domain_descriptions": ["Homeodomain", "KN homeodomain", "Homedomain-like superfamily", "Three Amino acid Loop Extension (TALE) homeobox"], "string_link": "https://string-db.org/network/9606/ENSG00000118707", "ortholog_mouse": "Tgif2", "ortholog_xenopus": "tgif2", "ortholog_drosophila": "achi, vis", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.9229, "sd_percent_ciliated": 8.146, "z_score": -0.1316, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 8.36, "sd_percent_ciliated": 8.36, "z_score": 8.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.3925, "sd_percent_ciliated": -5.3925, "z_score": -5.3925, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TGM6", "ensembl_id": "ENSG00000166948", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transglutaminase 6 [Source:HGNC Symbol,Acc:HGNC:16255]", "omim_id": "613900", "functional_summary": "Mutations in the TGM6 gene cause Spinocerebellar Ataxia (PMID: 21106500, 22554020).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "21106500, 22554020", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000166948", "synonym": "DJ734P14.3, SCA35, TGM3L, TGY", "ortholog_mouse": "Tgm6", "ortholog_xenopus": "tgm3l.4, tgm6", "ortholog_zebrafish": "tgm8", "ortholog_drosophila": "Tg", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.446, "z_score": -1.8525, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.1082, "z_score": -2.29, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.0834 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.323, "z_score": 0.323, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.323 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5894, "z_score": 0.5894, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.5894 } ] }, { "gene": "TIMP3", "ensembl_id": "ENSG00000100234", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TIMP metallopeptidase inhibitor 3 [Source:HGNC Symbol,Acc:HGNC:11822]", "omim_id": "188826", "functional_summary": "Ciliary Hedgehog sig ling restricts FAP conversion into adipocytes through TIMP3 and TIMP3 represses injury-induced adipogenesis through inhibition of MMP14 ( 28709001).", "localization": "Ciliary associated gene, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8709001E7", "complex_components": ["AGTR2", "TIMP3"], "pfam_ids": "PF00965", "domain_descriptions": ["Netrin domain", "Protease inhibitor I35 (TIMP)", "Tissue inhibitor of metalloproteinases-like", "OB-fold", "Proteinase inhibitor I35b (TIMP)", "C-terminal", "Tissue inhibitor of metalloproteinase", "conserved site"], "string_link": "https://string-db.org/network/9606/ENSG00000100234", "synonym": "SFD", "ortholog_mouse": "Timp3", "ortholog_c_elegans": "cri-2", "ortholog_xenopus": "timp3", "ortholog_drosophila": "Timp", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.843, "sd_percent_ciliated": 4.7277, "z_score": 0.3433 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.31, "sd_percent_ciliated": 0.31, "z_score": 0.31 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.4378, "sd_percent_ciliated": -2.4378, "z_score": -2.4378 } ] }, { "gene": "TJP2", "ensembl_id": "ENSG00000119139", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tight junction protein 2 [Source:HGNC Symbol,Acc:HGNC:11828]", "omim_id": "607709", "functional_summary": "ZO-2 colocalizes with CEP164 in the distal appendage of the mother centriole and is also present in the pericentriolar region, mitotic spindle poles, the basal body of primary cilia, and the tail of spermatozoa (PMID: 40728639).", "localization": "basal body, flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm", "reference": "4.0728639E7", "complex_components": {}, "pfam_ids": ["PF00595", "PF00625", "PF07653"], "domain_descriptions": ["PDZ domain", "Tight junction protein ZO-2", "PDZ superfamily", "SH3 domain", "Tight junction protein ZO", "Guanylate kinase-like domain", "Guanylate kinase/L-type calcium channel beta subunit", "P-loop containing nucleoside triphosphate hydrolase", "ZO-2", "SH3 domain", "SH3-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000119139", "synonym": "DFNA51, X104, ZO-2, ZO2", "ortholog_mouse": "Tjp2", "ortholog_c_elegans": "zoo-1", "ortholog_xenopus": "tjp2", "ortholog_zebrafish": "tjp2a, tjp2b", "ortholog_drosophila": "pyd", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 48.1041, "sd_percent_ciliated": 9.665, "z_score": 1.223, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.41, "sd_percent_ciliated": 1.41, "z_score": 1.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.2411, "sd_percent_ciliated": -0.2411, "z_score": -0.2411, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TLCD3B", "ensembl_id": "ENSG00000149926", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TLC domain containing 3B [Source:HGNC Symbol,Acc:HGNC:25295]", "omim_id": "615175", "functional_summary": "Mutations in the TLCD3B gene cause Cone-Rod Dystrophy (PMID: 33077892).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "33077892 ,33077892", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000149926", "synonym": "DKFZP434I2117, FAM57B", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tlcd3b", "ortholog_xenopus": "tlcd3b", "ortholog_zebrafish": "tlcd3ba, tlcd3bb", "ortholog_drosophila": "CG17841", "screens": {} }, { "gene": "TLR2", "ensembl_id": "ENSG00000137462", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "toll like receptor 2 [Source:HGNC Symbol;Acc:HGNC:11848]", "omim_id": "603028", "functional_summary": "Toll-like receptor 2 (TLR2), which recognizes BCW, localized at the base of primary cilia in vRGs and the BCW-TLR2 interaction suppressed ciliogenesis leading to derepression of Hedgehog (HH) signaling and expansion of vRGs. TLR6 is an essential partner of TLR2 in this process(PMID: 37052506).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.7052506E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000137462", "synonym": "CD282; TIL4", "ortholog_mouse": "Tlr2", "ortholog_xenopus": "LOC100485927, tlr2", "ortholog_zebrafish": "tlr2", "ortholog_drosophila": "Tehao, Tl, Toll-9", "screens": [] }, { "gene": "TLR4", "ensembl_id": "ENSG00000136869", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "toll like receptor 4 [Source:HGNC Symbol,Acc:HGNC:11850]", "omim_id": "603030", "functional_summary": "LPS-induced NF-κB sig ling and inflammatory mediator expression are modulated by cilia and that the blockade of primary cilium formation by Kif3a siR regulates TLR4-induced NF-κB sig ling ( 28927423).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.8927423E7", "complex_components": ["TICAM1", "TICAM2", "TLR4", "MYD88", "TIRAP", "LY96", "CD14", "CD36", "TLR6", "SYK", "IRAK1", "TLR5", "SCIMP"], "pfam_ids": ["PF13516", "PF13855", "PF12799", "PF01582"], "domain_descriptions": ["Toll/interleukin-1 receptor homology (TIR) domain", "Cysteine-rich flanking region", "C-terminal", "Leucine-rich repeat", "Leucine-rich repeat", "typical subtype", "Toll-like receptor", "Leucine rich repeat 4", "Leucine-rich repeat domain superfamily", "Toll/interleukin-1 receptor homology (TIR) domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000136869", "synonym": "ARMD10, CD284, HTOLL, TLR-4", "ortholog_mouse": "Tlr4", "ortholog_zebrafish": "tlr4ba", "ortholog_drosophila": "Tehao, Tl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.9713, "sd_percent_ciliated": 3.1342, "z_score": 0.2377 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.06, "sd_percent_ciliated": 2.06, "z_score": 2.06 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.8023, "sd_percent_ciliated": -0.8023, "z_score": -0.8023 } ] }, { "gene": "TLR6", "ensembl_id": "ENSG00000174130", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "toll like receptor 6 [Source:HGNC Symbol;Acc:HGNC:16711]", "omim_id": "605403", "functional_summary": "LR6 is an essential partner of TLR2 in this process. TLR6 alone was required to set the number of cortical neurons under healthy conditions(PMID: 37052506).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7052506E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000174130", "synonym": "CD286", "ortholog_mouse": "Tlr6", "ortholog_xenopus": "tlr1, tlr6, XB5889249", "ortholog_zebrafish": "tlr1", "ortholog_drosophila": "Tehao, Tl, Toll-9", "screens": [] }, { "gene": "TLR9", "ensembl_id": "ENSG00000239732", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "toll like receptor 9 [Source:HGNC Symbol;Acc:HGNC:15633]", "omim_id": "605474", "functional_summary": "These findings demonstrated that lack of TLR9 disrupts the nuclear and centrosomal DDR machinery so that at the time of CFC, CA1 neurons could not recruit DDR complexes or form cilia and PNNs. (38538785)", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Metabolism, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8538785E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000239732", "synonym": "CD289", "ortholog_mouse": "Tlr9", "ortholog_xenopus": "tlr9", "ortholog_zebrafish": "tlr9", "screens": [] }, { "gene": "TMEM107", "ensembl_id": "ENSG00000179029", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane protein 107 [Source:HGNC Symbol,Acc:HGNC:28128]", "omim_id": "616183", "functional_summary": "Critical regulator of cilia formation and morphology (26518474). Controls ciliary proteincomposition. Functions redundantly with NPHP4 to regulate cilium integrity, transition zone docking and assembly of membrane to microtubule Y- link connectors. Recruits ciliopathy proteins MKS1, TMEM231 and TMEM237. Mutated in OFD and JBTS patients (26595381). In mice, mutations decrease cilia number and disrupt Hh sig ling. Essential for craniofacial development (28954202). Acts synergistically with Gli2 as a positive mediator of Shh and ciliogenesis (22698544). Loss of Tmem107 results in disruption in early L- R patterning events at the node (31887266).", "localization": "basal body, cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transition zone", "reference": "22282472, 26595381, 26518474, 26123494 ,26595381; 26123494; 26518474", "complex_components": {}, "pfam_ids": "PF14995", "domain_descriptions": "Transmembrane protein 107", "string_link": "https://string-db.org/network/9606/ENSG00000179029", "synonym": "JBTS29, MGC10744, MKS13", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome; Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem107", "ortholog_c_elegans": "tmem-107", "ortholog_xenopus": "tmem107", "ortholog_zebrafish": "tmem107, tmem107l", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 190, "sd_percent_ciliated": 190, "z_score": 190, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6445, "sd_percent_ciliated": -4.6445, "z_score": -4.6445, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM135", "ensembl_id": "ENSG00000166575", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane protein 135 [Source:HGNC Symbol,Acc:HGNC:26167]", "omim_id": "616360", "functional_summary": "Depletion of peroxisome protein TMEM135 disrupts the intracellular cholesterol distribution. Depletion of TMEM135 blunts Rab8 trafficking and IFT20 trafficking to the centrioles ( 32157776).", "localization": "Ciliary associated gene, Microbody, Peroxisome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.2157776E7", "complex_components": {}, "pfam_ids": ["PF02466", "PF15982"], "domain_descriptions": ["Transmembrane protein 135", "Transmembrane protein 135", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000166575", "synonym": "FLJ22104, PMP52", "ortholog_mouse": "Tmem135", "ortholog_c_elegans": "tmem-135", "ortholog_xenopus": "tmem135", "ortholog_zebrafish": "tmem135", "ortholog_drosophila": "CG11737, CG31259, CG31454", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.134, "sd_percent_ciliated": 0.134, "z_score": 0.134, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.628, "sd_percent_ciliated": -3.628, "z_score": -3.628, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM138", "ensembl_id": "ENSG00000149483", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane protein 138 [Source:HGNC Symbol,Acc:HGNC:26944]", "omim_id": "614459", "functional_summary": "Mutations cause JBTS. Required for ciliogenesis. Mutations lead to shorter cilia, and knockdown cells show defects of ciliogenesis. It might mark vesicles en route to the base of cilium, which is known to be crucial for ciliary assembly (22282472).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "26982032, 22282472 ,22282472", "complex_components": {}, "pfam_ids": "PF14935", "domain_descriptions": "Transmembrane protein 138", "string_link": "https://string-db.org/network/9606/ENSG00000149483", "synonym": "HSPC196, JBTS16", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem138", "ortholog_c_elegans": "tmem-138", "ortholog_xenopus": "tmem138", "ortholog_zebrafish": "tmem138", "ortholog_drosophila": "CG13999", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.16, "sd_percent_ciliated": 0.16, "z_score": 0.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.006, "sd_percent_ciliated": 1.006, "z_score": 1.006, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM145", "ensembl_id": "ENSG00000167619", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "transmembrane protein 145 [Source:HGNC Symbol,Acc:HGNC:26912]", "functional_summary": "TMEM145 are localized to the cilia of sensory neurons in the head (amphid) and tail (phasmid) of C. elegans (38989623).", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8989623E7", "complex_components": {}, "pfam_ids": ["PF10192", "PF21892"], "domain_descriptions": ["GPR180/TMEM145", "transmembrane domain", "GPR180/TMEM145", "GPR180-like", "N-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167619", "synonym": "FLJ90805", "ortholog_mouse": "Tmem145", "ortholog_c_elegans": "tmem-145", "ortholog_xenopus": "tmem145", "ortholog_zebrafish": "tmem145", "ortholog_drosophila": "CG9304", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0064, "sd_percent_ciliated": -1.0064, "z_score": -1.0064, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM17", "ensembl_id": "ENSG00000186889", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane protein 17 [Source:HGNC Symbol,Acc:HGNC:26623]", "omim_id": "614950", "functional_summary": "CEP-290-dependent transition zone protein that facilitates cilium formation, being necessary for ciliogenesis, mutated in OFD6 (26982032).", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Ciliary membrane, Transition zone", "reference": "22282472, 26982032, 21493627, 20512146 ,22179047", "complex_components": {}, "pfam_ids": "PF09799", "domain_descriptions": ["Uncharacterised protein family", "transmembrane-17"], "string_link": "https://string-db.org/network/9606/ENSG00000186889", "synonym": "FLJ34583", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem17", "ortholog_c_elegans": "tmem-17", "ortholog_xenopus": "tmem17l", "ortholog_zebrafish": "tmem17", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.6293, "sd_percent_ciliated": 7.6467, "z_score": 0.1963 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 34.6, "sd_percent_ciliated": 34.6, "z_score": 34.6 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.7792, "sd_percent_ciliated": -2.7792, "z_score": -2.7792 } ] }, { "gene": "TMEM216", "ensembl_id": "ENSG00000187049", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane protein 216 [Source:HGNC Symbol,Acc:HGNC:25018]", "omim_id": "613277", "functional_summary": "Required for ciliogenesis. It might mark vesicles en route to the base of cilium, which is known to be crucial for ciliary assembly. Mutations cause JBTS (22282472). Mutated in OFD6 (26982032) and in Meckel syndrome MKS (21493627). Mutations or knockdown result in impaired ciliogenesis and centrosome docking. Modulates hyper- responsiveness of sig ling pathways mediated by Dvl and RhoA, suggesting they might be part of a complex to mediate cellular polarization and centrosomal apical docking (20512146).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "23012439, 23349226, 25869670, 20036350, 20512146 ,20036350; 20512146", "complex_components": {}, "pfam_ids": "PF09799", "domain_descriptions": ["Uncharacterised protein family", "transmembrane-17"], "string_link": "https://string-db.org/network/9606/ENSG00000187049", "synonym": "CORS2, HSPC244, JBTS2, MGC13379, MKS2", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem216", "ortholog_c_elegans": "mks-2", "ortholog_xenopus": "tmem216", "ortholog_zebrafish": "tmem216", "ortholog_drosophila": "CG11760, TMEM216", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 110, "sd_percent_ciliated": 110, "z_score": 110, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9209, "sd_percent_ciliated": 0.9209, "z_score": 0.9209, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM218", "ensembl_id": "ENSG00000150433", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 218 [Source:HGNC Symbol,Acc:HGNC:27344]", "omim_id": "619285", "functional_summary": "MKS module component, TMEM-218 (Tmem218), that requires CEP-290 and other MKS module components for TZ localisation and functions together with the NPHP module to facilitate ciliogenesis(26982032).", "localization": "transition zone, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "26982032, 33791682 ,33791682", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000150433", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem218", "ortholog_xenopus": "tmem218", "ortholog_zebrafish": "tmem218", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.211, "sd_percent_ciliated": 0.211, "z_score": 0.211, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.7076, "sd_percent_ciliated": 2.7076, "z_score": 2.7076, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM231", "ensembl_id": "ENSG00000205084", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "transmembrane protein 231 [Source:HGNC Symbol,Acc:HGNC:37234]", "omim_id": "614949", "functional_summary": "Interacts with several JBTS proteins as part of the B9 complex, involved in the formation of the diffusion barrier between the cilia and plasma membrane, maintaining the integrity of the cilia. Knockdown results in a reduction of cilia formation, and perturbs localisation of components of the B9 complex at the transition zone and ciliary localisation of sig lling receptors. Mutations have been associated with JBTS (23012439). Mutated in MKS (23349226). Critical for organizing the MKS complex and controlling ciliary composition. Mutated in OFD3. In mice, mutations disrupt the localisation of proteins Arl13b and Inpp5e to cilia (25869670).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "22152675, 23012439, 23349226 ,23012439; 23349226", "complex_components": {}, "pfam_ids": "PF10149", "domain_descriptions": "Transmembrane protein 231", "string_link": "https://string-db.org/network/9606/ENSG00000205084", "synonym": "ALYE870, FLJ22167, JBTS20, MKS11, PRO1886", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem231", "ortholog_c_elegans": "tmem-231", "ortholog_xenopus": "tmem231", "ortholog_zebrafish": "tmem231", "ortholog_drosophila": "CG14020", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 102, "sd_percent_ciliated": 102, "z_score": 102, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0741, "sd_percent_ciliated": 1.0741, "z_score": 1.0741, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM232", "ensembl_id": "ENSG00000186952", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 232 [Source:HGNC Symbol;Acc:HGNC:37270]", "omim_id": "620143", "functional_summary": "TMEM232, as a potential scaffold protein involving in the correct assembly, distribution, and stability maintenance of certain functional complexes by recruiting key intracellular proteins, is essential for the formation of a highly structured flagellum and plays an important role in the autophagic elimination of cytosolic ribosomes to provide energy for sperm motility(PMID: 39516485).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "39516485 ,34318869", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000186952", "synonym": "FLJ43080", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem232", "ortholog_xenopus": "tmem232", "ortholog_zebrafish": "tmem232", "screens": [] }, { "gene": "TMEM237", "ensembl_id": "ENSG00000155755", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 237 [Source:HGNC Symbol,Acc:HGNC:14432]", "omim_id": "614423", "functional_summary": "Also known as JBTS-14 . Interacts functio lly with NPHP4, MKS2, MKSR1, MKSR2, and MKS5 at the transition zone. Its interaction with NPHP4 promotes basal body-TZ attachment to the membrane and cilium formation. Loss of TMEM237 results in defective ciliogenesis and deregulation of Wnt sig ling. Mutated in Joubert syndrome related disorders (22152675).", "localization": "basal body, transition zone, cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "26035863, 22247471, 2339315, 19515853, 21422230, 22152675 ,22152675", "complex_components": ["SLC52A3", "TMEM237"], "pfam_ids": "PF15383", "domain_descriptions": "Transmembrane protein 237", "string_link": "https://string-db.org/network/9606/ENSG00000155755", "synonym": "ALS2CR4, JBTS14", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem237", "ortholog_c_elegans": "jbts-14", "ortholog_xenopus": "tmem237", "ortholog_zebrafish": "tmem237a, tmem237b", "ortholog_drosophila": "CG14186", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.1371, "sd_percent_ciliated": -0.1371, "z_score": -0.1371, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM240", "ensembl_id": "ENSG00000205090", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 240 [Source:HGNC Symbol,Acc:HGNC:25186]", "omim_id": "616101", "functional_summary": "Mutations in the TMEM240 gene cause Spinocerebellar Ataxia (PMID: 25070513).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5070513E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000205090", "synonym": "C1ORF70, SCA21", "ortholog_mouse": "Tmem240", "ortholog_zebrafish": "tmem240a, tmem240b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.793, "sd_percent_ciliated": 0.793, "z_score": 0.793, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9544, "sd_percent_ciliated": -1.9544, "z_score": -1.9544, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM252", "ensembl_id": "ENSG00000181778", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 252 [Source:HGNC Symbol,Acc:HGNC:28537]", "functional_summary": "TMEM252 has localized in cilia.", "localization": "cilia, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF15664", "domain_descriptions": "Transmembrane protein 252", "string_link": "https://string-db.org/network/9606/ENSG00000181778", "synonym": "C9ORF71, MGC34760", "ortholog_mouse": "Tmem252", "ortholog_xenopus": "tmem252", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.82, "sd_percent_ciliated": 1.82, "z_score": 1.82, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TMEM67", "ensembl_id": "ENSG00000164953", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "transmembrane protein 67 [Source:HGNC Symbol,Acc:HGNC:28396]", "omim_id": "609884", "functional_summary": "Also known as Meckelin or MKS3. Component of the MKS-JBTS module at the transition zone. Essential for phosphorylation of the non- canonical Wnt receptor ROR2. Negative regulator of Shh sig lling. Required for centriolar migration to the apical membrane during cell polarisation, regulation of actin cytoskeleton remodelling and RhoA activity (26035863). Required for the elongation and mainte nce of the outer segments in reti . It may play a role in photoreceptor intraciliary transport (22247471). Mutations are a major cause of MKS, JBTS and NPHP (23393159). MKS function is required for ciliary structure and function, plays a role in regulating cilia length and number through modulating centrosome duplication (19515853). In complex with other TZ proteins, it contributes to an early ciliogenic event and establish basal body/TZ membrane attachments (21422230).", "localization": "cilia, basal body, Centrosome, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone, Cilia length regulation", "reference": "21285245, 20526328, 27633000, 19058225, 19574260, 29891882, 19508969, 12384791, 16415887, 17160906 ,19058225, 19574260; 17160906; 12384791, 16415887; 19508969; 29891882", "complex_components": ["MKS1", "TMEM67", "SYNE2", "DNAJB9", "DNAJC10"], "pfam_ids": "PF09773", "domain_descriptions": ["Meckelin", "Growth factor receptor cysteine-rich domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000164953", "synonym": "JBTS6, MGC26979, MKS3, NPHP11", "ciliopathy": "COACH Syndrome; Joubert Syndrome; Meckel–Gruber Syndrome; Nephronophthisis; RHYNS Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tmem67", "ortholog_c_elegans": "mks-3", "ortholog_xenopus": "tmem67", "ortholog_zebrafish": "tmem67", "ortholog_drosophila": "CG15923", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 15.5, "sd_percent_ciliated": 15.5, "z_score": 15.5, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.2504, "sd_percent_ciliated": 0.2504, "z_score": 0.2504, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM80", "ensembl_id": "ENSG00000177042", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 80 [Source:HGNC Symbol,Acc:HGNC:27453]", "omim_id": "620248", "functional_summary": "Repertoire of MKS module-associated proteins—mammalian Tmem80—and suggest an MKS-5 and CEP-290-dependent assembly pathway for building a functional TZ(PMID: 26982032).", "localization": "transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "2.6982032E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000177042", "synonym": "FLJ38216", "ortholog_mouse": "Tmem80", "ortholog_c_elegans": "mks-2", "ortholog_xenopus": "tmem80", "ortholog_drosophila": "TMEM216", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.03, "sd_percent_ciliated": 5.03, "z_score": 5.03, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6599, "sd_percent_ciliated": -2.6599, "z_score": -2.6599, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TMEM97", "ensembl_id": "ENSG00000109084", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein 97 [Source:HGNC Symbol;Acc:HGNC:28106]", "omim_id": "612912", "functional_summary": "TMEM97 is a sterol-binding tetraspanin membrane receptor required for cellular cholesterol homeostasis. We previously reported immunolocalization to photoreceptor (PR) connecting cilia in mouse retina (Fliesler et. al. ARVO 2022), but questioned the unexpected pattern observed. Here, we further evaluated TMEM97 immunolocalization in the mouse retina, comparing multiple TMEM97 antibodies and improving antigen presentation/target specificity.These findings are consistent with TMEM97 having a role in the structure and function of primary cilia in neural retina (especially photoreceptors) and RPE centrosomes.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://iovs.arvojournals.org/article.aspx?articleid=2780118 , https://iovs.arvojournals.org/article.aspx?articleid=2806089", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000109084", "synonym": "MAC30; S2R", "ortholog_mouse": "Tmem97", "ortholog_xenopus": "tmem97", "ortholog_zebrafish": "tmem97", "screens": [] }, { "gene": "TNFRSF21", "ensembl_id": "ENSG00000146072", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TNF receptor superfamily member 21 [Source:HGNC Symbol,Acc:HGNC:13469]", "omim_id": "605732", "functional_summary": "Tnfrsf21 localized in an atypical ring-shaped pattern at the distal cilium (PMID: 40623838).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "4.0623838E7", "complex_components": ["APP", "TNFRSF21"], "pfam_ids": ["PF00531", "PF00020"], "domain_descriptions": ["Death domain", "TNFR/NGFR cysteine-rich region", "Death-like domain superfamily", "Tumour necrosis factor receptor 21", "Tumor necrosis factor receptor 21", "N-terminal", "Tumor necrosis factor receptor 21", "death domain"], "string_link": "https://string-db.org/network/9606/ENSG00000146072", "synonym": "CD358, DR6", "ortholog_mouse": "Tnfrsf21", "ortholog_xenopus": "tnfrsf21", "ortholog_zebrafish": "tnfrsf21", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.099, "sd_percent_ciliated": 1.8943, "z_score": -0.1103, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.04, "sd_percent_ciliated": 2.04, "z_score": 2.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0163, "sd_percent_ciliated": -5.0163, "z_score": -5.0163, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TNNT2", "ensembl_id": "ENSG00000118194", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "troponin T2, cardiac type [Source:HGNC Symbol,Acc:HGNC:11949]", "omim_id": "191045", "functional_summary": "There were dysplastic arterial valve leaflets in some cases when Ift88 was deleted in the Tnnt2-Cre lineage suggesting that cilia may be required for the development of the arterial valve leaflets (40498626).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, Cardiac & muscle development, Muscle contraction & physiology", "reference": "4.0498626E7", "complex_components": ["TNNC1", "TNNI3", "TNNT2"], "pfam_ids": "PF00992", "domain_descriptions": ["Troponin", "Troponin T", "Troponin domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000118194", "synonym": "CMD1D, CMH2, CMPD2", "ortholog_mouse": "Tnnt2", "ortholog_c_elegans": "mup-2, tnt-2, tnt-3, tnt-4", "ortholog_xenopus": "tnnt2", "ortholog_zebrafish": "tnnt2a, tnnt2b, tnnt2c", "ortholog_drosophila": "up", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.9325, "sd_percent_ciliated": 0.74, "z_score": 0.3542, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.773, "sd_percent_ciliated": 0.773, "z_score": 0.773, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.36, "sd_percent_ciliated": -1.36, "z_score": -1.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TNPO1", "ensembl_id": "ENSG00000083312", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transportin 1 [Source:HGNC Symbol,Acc:HGNC:6401]", "omim_id": "602901", "functional_summary": "Also known as Importin beta 2. Regulated RP2 trafficking into the ciliary compartment (21285245). Interacts with KIF17, this interaction is required for the ciliary entry of KIF17 (20526328). TNPO1 for a complex with Rab8 and CTSs (ciliary target sig ls) to mediate selective entry and retention of cargos within cilia (27633000).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "32453716, 32747439", "complex_components": ["KIF17", "RAB23", "TNPO1", "RAB8A", "RAN"], "pfam_ids": ["PF13513", "PF02985", "PF03810"], "domain_descriptions": ["HEAT repeat", "Importin-beta", "N-terminal domain", "Armadillo-like helical", "Armadillo-type fold", "Importin beta family"], "string_link": "https://string-db.org/network/9606/ENSG00000083312", "synonym": "IPO2, KPNB2, MIP, MIP1, TRN", "ortholog_mouse": "Mip, Tnpo1", "ortholog_c_elegans": "imb-2", "ortholog_xenopus": "mip, tnpo1", "ortholog_zebrafish": "mipa, mipb, tnpo1", "ortholog_drosophila": "CG8219, Drip, Eglp1, Eglp2, Eglp4, Tnpo", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.9012, "z_score": -1.9946, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 14.3736, "z_score": -2.8636, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.3149 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 19.4, "z_score": 19.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 19.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.7612, "z_score": -0.7612, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.7612 } ] }, { "gene": "TNRC6A", "ensembl_id": "ENSG00000090905", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "trinucleotide repeat containing adaptor 6A [Source:HGNC Symbol,Acc:HGNC:11969]", "omim_id": "610739", "functional_summary": "Two statio ry GW/P bodies reside at the centrosome in human malig nt cells [18653466] raises the possibility that miR could potentially be located at the centrosome in GW/P bodies and may play a role in posttranscriptio l regulation of mR involved in centrosome functions including primary ciliogenesis. Two GW/P bodies as marked by GW182 and hAgo2 colocalized to the basal body of primary human astrocytes as well as human synoviocytes during interphase and specifically with the distal end of the basal body in the pericentriolar region. knock down of GW182, hAgo2, Drosha and DGCR8 mR did not affect the appearance of the earliest stage of ciliogenesis but did prevent the formation and elongation of the ciliary axoneme(21880135).", "localization": "basal body, Cytosol, P-body", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "18653466 , 21880135", "complex_components": {}, "pfam_ids": ["PF16608", "PF10427"], "domain_descriptions": ["Nucleotide-binding alpha-beta plait domain superfamily", "Argonaute hook domain", "TNRC6", "PABC binding domain", "TNRC6A", "RNA recognition motif", "RNA-binding domain superfamily", "GW182 domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000090905", "synonym": "CAGH26, GW182, KIAA1460, TNRC6", "ortholog_mouse": "Tnrc6a", "ortholog_xenopus": "tnrc6a", "ortholog_zebrafish": "tnrc6a", "ortholog_drosophila": "gw", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7476, "sd_percent_ciliated": -2.7476, "z_score": -2.7476, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TOGARAM1", "ensembl_id": "ENSG00000198718", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "TOG array regulator of axonemal 1 [Source:HGNC Symbol,Acc:HGNC:19959]", "omim_id": "617618", "functional_summary": "Mutated in JBTS37. TOGARAM1 localized along the ciliary axoneme in hTERT-RPE1 cells and was associated with longer cilia when knocked down. Binds directly to ARMC9, forming a protein module that localizes to microtubule-like structures at the centriole and proximal portion of the cilium. The interaction with ARMC9 mapped to the N-termi l protein of TOGARAM1 (32453716, 32747439).The length of cilia was normal in the FAP256-KO, reduced (by 16%) in CHE12-KO and increased (by 14%) in ARMC9-KO cells (PMID: 30217954).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "21159800, 17924349, 18509552, 32453716,30217954 ,32453716", "complex_components": {}, "pfam_ids": "PF21040", "domain_descriptions": ["Armadillo-like helical", "Armadillo-type fold", "TOG domain"], "string_link": "https://string-db.org/network/9606/ENSG00000198718", "synonym": "CRESCERIN, CRESCERIN-1, FAM179B, KIAA0423", "ciliopathy": "Joubert Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Togaram1", "ortholog_c_elegans": "che-12", "ortholog_xenopus": "togaram1", "ortholog_zebrafish": "togaram1", "ortholog_drosophila": "CG42399", "screens": {} }, { "gene": "TOLLIP", "ensembl_id": "ENSG00000078902", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "toll interacting protein [Source:HGNC Symbol,Acc:HGNC:16476]", "omim_id": "606277", "functional_summary": "TOLLIP accumulates in cilia of ARL6-depleted cells (37019113).", "localization": "cilia, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7019113E7", "complex_components": ["IRAK1", "TOLLIP", "IL1R1", "IL1RAP", "MYD88"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000078902", "synonym": "IL-1RACPIP", "ortholog_mouse": "Tollip", "ortholog_c_elegans": "tli-1", "ortholog_xenopus": "tollip", "ortholog_zebrafish": "tollip", "screens": {} }, { "gene": "TOM1", "ensembl_id": "ENSG00000100284", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "target of myb1 membrane trafficking protein [Source:HGNC Symbol,Acc:HGNC:11982]", "omim_id": "604700", "functional_summary": "Chlamydomo s TOM1 is required for the removal of ubiquiti ted proteins from cilia(37019113).", "localization": "cilia, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Protein processing & maturation", "reference": "3.7019113E7", "complex_components": {}, "pfam_ids": ["PF00790", "PF03127"], "domain_descriptions": ["VHS domain", "ENTH/VHS", "GAT domain", "Target of Myb protein 1", "GAT domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000100284", "ortholog_mouse": "Tom1", "ortholog_c_elegans": "tmyb-1", "ortholog_xenopus": "tom1", "ortholog_zebrafish": "tom1", "ortholog_drosophila": "CG3529", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.6288, "sd_percent_ciliated": 5.0531, "z_score": -0.2884, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.32, "sd_percent_ciliated": 2.32, "z_score": 2.32, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.3749, "sd_percent_ciliated": -0.3749, "z_score": -0.3749, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TOM1L2", "ensembl_id": "ENSG00000175662", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "target of myb1 like 2 membrane trafficking protein [Source:HGNC Symbol,Acc:HGNC:11984]", "omim_id": "615519", "functional_summary": "The K63-linked ubiquitin chains reader Target of Myb1-like 2 (TOM1L2) directly binds to the BBSome. Targeted disruption of the BBSome-TOM1L2 interaction blocks G protein-coupled receptor exits from cilia(37019113).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7019113E7", "complex_components": {}, "pfam_ids": ["PF03127", "PF00790"], "domain_descriptions": ["VHS domain", "GAT domain", "ENTH/VHS", "Target of Myb protein 1", "GAT domain superfamily", "TOM1-like protein 2", "VHS domain"], "string_link": "https://string-db.org/network/9606/ENSG00000175662", "ortholog_mouse": "Tom1l2", "ortholog_c_elegans": "tmyb-1", "ortholog_xenopus": "tom1l2", "ortholog_zebrafish": "tom1l2b", "ortholog_drosophila": "CG3529", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.9329, "sd_percent_ciliated": 11.8894, "z_score": -0.3727, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.74, "sd_percent_ciliated": 6.74, "z_score": 6.74, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6781, "sd_percent_ciliated": -0.6781, "z_score": -0.6781, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TOPAZ1", "ensembl_id": "ENSG00000173769", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "testis and ovary specific TOPAZ 1 [Source:HGNC Symbol,Acc:HGNC:24746]", "omim_id": "614412", "functional_summary": "TOPAZ1 localized to flagella (25613900)", "localization": "flagella", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": "PF14669", "domain_descriptions": ["Protein TOPAZ1 domain", "Protein TOPAZ1"], "string_link": "https://string-db.org/network/9606/ENSG00000173769", "synonym": "C3ORF77, FLJ36157", "ortholog_mouse": "Topaz1", "ortholog_xenopus": "topaz1", "ortholog_zebrafish": "topaz1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.02, "sd_percent_ciliated": 0.02, "z_score": 0.02, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TOPORS", "ensembl_id": "ENSG00000197579", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Source:HGNC Symbol,Acc:HGNC:21653]", "omim_id": "609507", "functional_summary": "Component of the photoreceptor sensory cilium. Potential role in the regulation of primary cilia-dependent photoreceptor development and function. Knockdown leads to increased cell death in the reti of zebrafish (21159800). Mutations have been associated with autosomal domi nt retinitis pigmentosa (17924349, 18509552).", "localization": "basal body,cilia, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "25201258, 31028178, 26947080, 27257214, 17924349, 37227088 ,37227088; 17924349", "complex_components": {}, "pfam_ids": "PF00097", "domain_descriptions": ["Zinc finger", "RING-type", "Zinc finger", "RING/FYVE/PHD-type", "Zinc finger", "RING-type", "conserved site", "Zinc finger", "C3HC4 RING-type"], "string_link": "https://string-db.org/network/9606/ENSG00000197579", "synonym": "LUN, RP31, TP53BPL", "ciliopathy": "Joubert Syndrome; Retinitis Pigmentosa", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Topors", "ortholog_xenopus": "topors", "ortholog_zebrafish": "toporsa, toporsb", "ortholog_drosophila": "CG18605, Topors", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.0633, "sd_percent_ciliated": 6.3492, "z_score": -0.9627, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.985, "sd_percent_ciliated": 0.985, "z_score": 0.985, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6334, "sd_percent_ciliated": -5.6334, "z_score": -5.6334, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TP53", "ensembl_id": "ENSG00000141510", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "tumor protein p53 [Source:HGNC Symbol,Acc:HGNC:11998]", "omim_id": "191170", "functional_summary": "In mice lacking the p53 homolog p73 are recently unified by new a lysis showing p73 is required for formation of multiciliated epithelia. p73 directly activates FoxJ1, the central transcriptio l driver for multiciliation, and induces a host of genes critical for ciliogenesis ( 26988441).", "localization": "Ciliary associated gene, Cytosol, Microtubules, Nucleus, Ribosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.6988441E7", "complex_components": ["EP300", "MDM2", "TP53", "FHL2", "HIPK2", "COPS2", "COPS3", "COPS4", "COPS5", "COPS6", "COPS7A", "COPS8", "GPS1", "BLM", "MSH2", "MSH6", "RAD51", "ESR1", "FOXO3", "SP1", "SIRT1", "AXIN1", "DAXX", "NUMB", "BARD1", "XRCC6", "YY1", "BCL2", "BCL2L1", "TFIP11", "USP7", "CDK1", "CDKN1A", "CCDC8", "CUL7", "CUL9", "FBXW8", "OBSL1", "RBX1", "TSPY1", "RHOB", "MDM4", "WWOX", "CABLES1", "TP73", "RSL1D1", "MAGEA2", "SMAD4", "ALDOB", "G6PD"], "pfam_ids": ["PF08563", "PF18521", "PF00870", "PF07710"], "domain_descriptions": ["p53 tumour suppressor family", "p53-like transcription factor", "DNA-binding domain superfamily", "p53", "DNA-binding domain", "p53/RUNT-type transcription factor", "DNA-binding domain superfamily", "p53 transactivation domain", "Cellular tumor antigen p53", "transactivation domain 2", "p53", "tetramerisation domain", "p53-like tetramerisation domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000141510", "synonym": "LFS1, P53", "ortholog_mouse": "Trp53", "ortholog_xenopus": "tp53", "ortholog_zebrafish": "tp53", "ortholog_drosophila": "p53", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.2557, "sd_percent_ciliated": 3.479, "z_score": 0.878, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 5.46, "sd_percent_ciliated": 5.46, "z_score": 5.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0274, "sd_percent_ciliated": -4.0274, "z_score": -4.0274, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TP53I11", "ensembl_id": "ENSG00000175274", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tumor protein p53 inducible protein 11 [Source:HGNC Symbol,Acc:HGNC:16842]", "omim_id": "617867", "functional_summary": "TP53I11 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": "PF14936", "domain_descriptions": "Tumor protein p53-inducible protein 11", "string_link": "https://string-db.org/network/9606/ENSG00000175274", "synonym": "PIG11", "ortholog_mouse": "Trp53i11", "ortholog_c_elegans": "Y9C12A.1", "ortholog_xenopus": "tp53i11", "ortholog_zebrafish": "tp53i11a, tp53i11b", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.5518, "sd_percent_ciliated": 16.8525, "z_score": -1.0247, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 9.54, "sd_percent_ciliated": 9.54, "z_score": 9.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -10.9702, "sd_percent_ciliated": -10.9702, "z_score": -10.9702, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TP63", "ensembl_id": "ENSG00000073282", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "tumor protein p63 [Source:HGNC Symbol,Acc:HGNC:15979]", "omim_id": "603273", "functional_summary": "螖N-Tp63 mediates Wnt/尾-catenin-induced inhibition of differentiation in basal stem cells of mucociliary epithelia, and TP63 is co-localized with acetylated-伪-tubulin in BCs in airway epithelia(31553905).", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.1553905E7", "complex_components": {}, "pfam_ids": ["PF07710", "PF07647", "PF00870"], "domain_descriptions": ["Sterile alpha motif domain", "p53 tumour suppressor family", "p53-like transcription factor", "DNA-binding domain superfamily", "p53", "tetramerisation domain", "p53", "DNA-binding domain", "p53/RUNT-type transcription factor", "DNA-binding domain superfamily", "Sterile alpha motif/pointed domain superfamily", "p53-like tetramerisation domain superfamily", "Tumour protein p63", "SAM domain"], "string_link": "https://string-db.org/network/9606/ENSG00000073282", "synonym": "EEC3, KET, NBP, OFC8, P40, P51, P53CP, P63, P73H, P73L, SHFM4, TP53CP, TP53L, TP73L", "ortholog_mouse": "Trp63", "ortholog_xenopus": "tp63", "ortholog_zebrafish": "tp63", "ortholog_drosophila": "p53", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.87, "sd_percent_ciliated": 0.87, "z_score": 0.87, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4849, "sd_percent_ciliated": -0.4849, "z_score": -0.4849, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TP73", "ensembl_id": "ENSG00000078900", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tumor protein p73 [Source:HGNC Symbol,Acc:HGNC:12003]", "omim_id": "601990", "functional_summary": "Also called P73. Might be critical for the initiation of cilia assembly by indirectly promoting the multiplication of centrosomes (25201258). Transcription factor critical to multiciliogenesis. Required for multiciliated cells differentiation, function and for the direct regulation of transcriptio l modulators of multiciliogenesis, including Foxj1, Rfx2 and Rfx3 (31028178, 27257214, 26947080). Required for basal body docking, axonemal extension and motility (27257214).", "localization": "basal body , cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Cell migration & adhesion, Cardiac & muscle development, Transcription regulation", "reference": "21289087, 34077761 ,34077761; 25613900", "complex_components": ["CABLES1", "TP53", "TP73"], "pfam_ids": ["PF07710", "PF00870", "PF07647"], "domain_descriptions": ["Sterile alpha motif domain", "p53 tumour suppressor family", "p53-like transcription factor", "DNA-binding domain superfamily", "p53", "tetramerisation domain", "p53", "DNA-binding domain", "p53/RUNT-type transcription factor", "DNA-binding domain superfamily", "Sterile alpha motif/pointed domain superfamily", "p53-like tetramerisation domain superfamily", "Tumour protein p73", "SAM domain"], "string_link": "https://string-db.org/network/9606/ENSG00000078900", "synonym": "P73", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trp73", "ortholog_xenopus": "tp73", "ortholog_zebrafish": "tp73", "ortholog_drosophila": "p53", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.9175, "sd_percent_ciliated": 14.2036, "z_score": 1.5639 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.272, "sd_percent_ciliated": 0.272, "z_score": 0.272 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.0218, "sd_percent_ciliated": -1.0218, "z_score": -1.0218 } ] }, { "gene": "TPD52", "ensembl_id": "ENSG00000076554", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tumor protein D52 [Source:HGNC Symbol,Acc:HGNC:12005]", "omim_id": "604068", "functional_summary": "TPD52 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF04201", "domain_descriptions": "Tumour protein D52", "string_link": "https://string-db.org/network/9606/ENSG00000076554", "synonym": "D52, HD52, N8L", "ortholog_mouse": "Tpd52", "ortholog_c_elegans": "F13E6.1", "ortholog_xenopus": "tpd52", "ortholog_zebrafish": "tpd52", "ortholog_drosophila": "CG5174", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.0591, "sd_percent_ciliated": 1.5655, "z_score": 0.2484 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.401, "sd_percent_ciliated": 0.401, "z_score": 0.401 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.0265, "sd_percent_ciliated": -5.0265, "z_score": -5.0265 } ] }, { "gene": "TPH1", "ensembl_id": "ENSG00000129167", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tryptophan hydroxylase 1 [Source:HGNC Symbol,Acc:HGNC:12008]", "omim_id": "191060", "functional_summary": "DAF-6/intraflagellar transport and the OCR-2/OSM-9 TRPV channel act in concert, regulating two layers of activation of tph-1 in the ADF neurons. The TRPV sig ling turns on tph-1 expression under favorable and aversive conditions, whereas i ctivation of DAF-6 by stress results in further upregulation of tph-1 independently of OCR-2/OSM-9 activity. tph-1 has expression in dendritic cilia of a pair of ADF serotonergic chemosensory neurons(19339602).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology", "reference": "1.9339602E7", "complex_components": {}, "pfam_ids": "PF00351", "domain_descriptions": ["Aromatic amino acid hydroxylase", "ACT domain", "Tryptophan 5-monooxygenase", "Aromatic amino acid hydroxylase", "iron/copper binding site", "Tyrosine 3-monooxygenase-like", "Aromatic amino acid hydroxylase", "C-terminal", "Aromatic amino acid monoxygenase", "C-terminal domain superfamily", "Aromatic amino acid hydroxylase superfamily", "Tryptophan 5-hydroxylase", "catalytic domain", "ACT-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000129167", "synonym": "TPH, TPRH", "ortholog_mouse": "Tph1", "ortholog_c_elegans": "tph-1", "ortholog_zebrafish": "tph1a, tph1b", "ortholog_drosophila": "Trhn", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.42, "sd_percent_ciliated": 2.5074, "z_score": -0.4349, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.35, "sd_percent_ciliated": 7.35, "z_score": 7.35, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7977, "sd_percent_ciliated": -2.7977, "z_score": -2.7977, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TPH2", "ensembl_id": "ENSG00000139287", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tryptophan hydroxylase 2 [Source:HGNC Symbol,Acc:HGNC:20692]", "omim_id": "607478", "functional_summary": "DAF-6/intraflagellar transport and the OCR-2/OSM-9 TRPV channel act in concert, regulating two layers of activation of tph-1 in the ADF neurons. The TRPV sig ling turns on tph-1 expression under favorable and aversive conditions, whereas i ctivation of DAF-6 by stress results in further upregulation of tph-1 independently of OCR-2/OSM-9 activity. tph-1 has expression in dendritic cilia of a pair of ADF serotonergic chemosensory neurons(19339602).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "1.9339602E7", "complex_components": {}, "pfam_ids": "PF00351", "domain_descriptions": ["Aromatic amino acid hydroxylase", "ACT domain", "Tryptophan 5-monooxygenase", "Aromatic amino acid hydroxylase", "iron/copper binding site", "Tyrosine 3-monooxygenase-like", "Aromatic amino acid hydroxylase", "C-terminal", "Aromatic amino acid monoxygenase", "C-terminal domain superfamily", "Aromatic amino acid hydroxylase superfamily", "Tryptophan 5-hydroxylase", "catalytic domain", "ACT-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000139287", "synonym": "FLJ37295, NTPH", "ortholog_mouse": "Tph2", "ortholog_c_elegans": "tph-1", "ortholog_xenopus": "tph2", "ortholog_zebrafish": "tph2", "ortholog_drosophila": "Trhn", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.0075, "sd_percent_ciliated": 8.9162, "z_score": 1.5748 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0135, "sd_percent_ciliated": -0.0135, "z_score": -0.0135 } ] }, { "gene": "TPPP2", "ensembl_id": "ENSG00000179636", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin polymerization promoting protein family member 2 [Source:HGNC Symbol,Acc:HGNC:19293]", "omim_id": "616956", "functional_summary": "IFT transport and sig lling defects after knockdown, ciliary frequency not affected. Candidate cilia gene.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "2.6451044E7", "complex_components": {}, "pfam_ids": "PF05517", "domain_descriptions": ["Tubulin polymerization-promoting protein", "EF-hand domain pair"], "string_link": "https://string-db.org/network/9606/ENSG00000179636", "synonym": "C14ORF8, CT152, P18, P25BETA", "ortholog_mouse": "Tppp2", "ortholog_c_elegans": "tppp-1", "ortholog_zebrafish": "tppp2", "ortholog_drosophila": "ringer", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.2382, "sd_percent_ciliated": 1.2382, "z_score": 1.2382, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TPR", "ensembl_id": "ENSG00000047410", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "translocated promoter region, nuclear basket protein [Source:HGNC Symbol,Acc:HGNC:12017]", "omim_id": "189940", "functional_summary": "The TPR protein mutant oval/ift88 shows polyglutamylation extending to the tips of cilia ( 17761526).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.7761526E7", "complex_components": ["Aaas", "Nup107", "Nup133", "Nup153", "Nup155", "Nup160", "Nup188", "Nup205", "Nup210", "Nup214", "Nup35", "Nup37", "Nup42", "Nup43", "Nup50", "Nup54", "Nup58", "Nup62", "Nup85", "Nup88", "Nup93", "Nup98", "Pom121", "Rae1", "Ranbp2", "Sec13", "Seh1l", "Tpr", "AAAS", "AHCTF1", "GLE1", "NDC1", "NUP107", "NUP133", "NUP153", "NUP155", "NUP160", "NUP188", "NUP205", "NUP210", "NUP214", "NUP35", "NUP37", "NUP42", "NUP43", "NUP50", "NUP54", "NUP58", "NUP62", "NUP85", "NUP88", "NUP93", "NUP98", "POM121", "RAE1", "RANBP2", "SEC13", "SEH1L", "TPR"], "pfam_ids": "PF07926", "domain_descriptions": "Nucleoprotein TPR/MLP1", "string_link": "https://string-db.org/network/9606/ENSG00000047410", "ortholog_mouse": "Tpr", "ortholog_c_elegans": "npp-21", "ortholog_xenopus": "tpr", "ortholog_zebrafish": "tpra, tprb", "ortholog_drosophila": "Mgtor", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.3257, "sd_percent_ciliated": 2.8821, "z_score": 0.523 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.56, "sd_percent_ciliated": 2.56, "z_score": 2.56 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3477, "sd_percent_ciliated": -0.3477, "z_score": -0.3477 } ] }, { "gene": "TPRA1", "ensembl_id": "ENSG00000163870", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transmembrane protein adipocyte associated 1 [Source:HGNC Symbol,Acc:HGNC:30413]", "omim_id": "608336", "functional_summary": "Also known as GPR175. Positively regulates Hh sig ling via inhibiting PKA activity by lowering cAMP levels. Its ciliary localisation and activity is Hh-dependent (26451044).", "localization": "basal body, cilia, transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "21945076, 26487268, 18369462, 28417161, 33368450", "complex_components": {}, "pfam_ids": "PF10160", "domain_descriptions": "Transmembrane protein TPRA1/CAND2/CAND8", "string_link": "https://string-db.org/network/9606/ENSG00000163870", "synonym": "FLJ32197, GPR175, TMEM227, TPRA40", "ortholog_mouse": "Tpra1", "ortholog_c_elegans": "tpra-1", "ortholog_xenopus": "tpra1", "ortholog_zebrafish": "tpra1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.86, "sd_percent_ciliated": 3.86, "z_score": 3.86, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.52, "sd_percent_ciliated": -1.52, "z_score": -1.52, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRAF3IP1", "ensembl_id": "ENSG00000204104", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "TRAF3 interacting protein 1 [Source:HGNC Symbol,Acc:HGNC:17861]", "omim_id": "607380", "functional_summary": "Also known as IFT54. Evolucio irly conserved role in ciliogenesis, interacts with with tubulin and actin. Mutations lead to altered cilia mediated hedgehog sig ling (21945076). Plays a critical role in IFT, as well as building and maintaining functio l cilia (18369462). IFT-B subunit which regulates ciliary composition. I ctivation is embryonic lethal and causes characteristic ciliopathy phenotypes (26487268). Interacts with and stabilises IFT20 and Rabaptin5, which in turn interacts with Rab8, suggesting a potential role for IFT in regulating the assembly of ciliary membranes. It may also participate in tubulin transport for ciliogenesis. Loss of IFT54 impairs cilia assembly as well as cytoplasmic MT dy mics (28417161). Interacts with both kinesin鈥怚I and IFT dynein and regulates anterograde IFT (33368450).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "21273506, 26487268 ,26487268", "complex_components": ["Cluap1", "IFT172", "IFT20", "IFT22", "IFT25", "IFT27", "IFT46", "IFT52", "IFT56", "IFT57", "IFT70B", "IFT74", "IFT80", "IFT81", "IFT88", "TRAF3IP1", "IL13RA1", "TUBB", "TUBB2A", "TUBB2B"], "pfam_ids": ["PF17749", "PF10243"], "domain_descriptions": ["TRAF3-interacting protein 1", "TRAF3-interacting protein 1", "N-terminal", "TRAF3-interacting protein 1", "C-terminal domain", "TRAF3-interacting protein 1", "N-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000204104", "synonym": "CFAP116, DKFZP434F124, FAP116, IFT54, MIP-T3, MIPT3", "ciliopathy": "Senior-Løken Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Traf3ip1", "ortholog_c_elegans": "dyf-11", "ortholog_xenopus": "traf3ip1", "ortholog_zebrafish": "traf3ip1", "ortholog_drosophila": "IFT54", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -4.2833, "z_score": -1.8017, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 11.3601, "z_score": -3.2287, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.3535 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 178, "z_score": 178, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 178 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.8846, "z_score": -7.8846, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -7.8846 } ] }, { "gene": "TRAPPC10", "ensembl_id": "ENSG00000160218", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "trafficking protein particle complex subunit 10 [Source:HGNC Symbol,Acc:HGNC:11868]", "omim_id": "602103", "functional_summary": "Component of a mammalian TRAPPII complex. Required for Rabin8 centrosomal targeting prior to ciliogenesis. Knockdown impares cilia formation by inhibiting Rabin8 recruitment to the centrosome (21273506).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "21273506, 27894351 ,21273506", "complex_components": ["TRAPPC1", "TRAPPC10", "TRAPPC11", "TRAPPC12", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC3L", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC8", "TRAPPC9", "RAB3IP", "TRAPPC14", "KALRN", "COPG1", "RAB18"], "pfam_ids": ["PF12584", "PF23604", "PF23036"], "domain_descriptions": ["TRAPP II complex TRAPPC10", "C-terminal", "Trafficking protein particle complex subunit TRAPPC10/Trs130", "Trafficking protein particle complex subunit TRAPPC10/Trs130", "N-terminal", "Trafficking protein particle complex subunit 10", "immunoglobulin-like"], "string_link": "https://string-db.org/network/9606/ENSG00000160218", "synonym": "EHOC-1, TMEM1, TRS130", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trappc10", "ortholog_c_elegans": "trpp-10", "ortholog_xenopus": "trappc10", "ortholog_zebrafish": "trappc10", "ortholog_drosophila": "SIDL", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.652, "sd_percent_ciliated": 0.652, "z_score": 0.652, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.0608, "sd_percent_ciliated": -1.0608, "z_score": -1.0608, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRAPPC12", "ensembl_id": "ENSG00000171853", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "trafficking protein particle complex subunit 12 [Source:HGNC Symbol,Acc:HGNC:24284]", "omim_id": "614139", "functional_summary": "TRAPPIII components, TRAPPC8 and TRAPPC12, are in the cilium formation, and TRAPPIII regulates ciliogenesis via its interaction with a ciliopathy protein, OFD1. Depletion causes increased ciliary length because TRAPPC12 is required for the disassembly of primary cilia (32258032).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.2258032E7", "complex_components": ["TRAPPC1", "TRAPPC10", "TRAPPC11", "TRAPPC12", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC3L", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC8", "TRAPPC9", "TRAPPC13"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000171853", "synonym": "CGI-87, TTC-15, TTC15", "ortholog_mouse": "Trappc12", "ortholog_c_elegans": "trpp-12", "ortholog_xenopus": "trappc12", "ortholog_zebrafish": "trappc12", "ortholog_drosophila": "CG11396", "screens": {} }, { "gene": "TRAPPC13", "ensembl_id": "ENSG00000113597", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "trafficking protein particle complex subunit 13 [Source:HGNC Symbol,Acc:HGNC:25828]", "functional_summary": "TRAPPC13 and NPHP4 are highly enriched at the base of primary cilia(27514913).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "2.7514913E7", "complex_components": ["TRAPPC1", "TRAPPC11", "TRAPPC12", "TRAPPC13", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC8"], "pfam_ids": ["PF23643", "PF06159", "PF23647"], "domain_descriptions": ["Trafficking protein particle complex subunit 13", "Trafficking protein particle complex subunit 13", "N-terminal", "Trafficking protein particle complex subunit 13", "C-terminal", "Trafficking protein particle complex subunit 13", "middle domain"], "string_link": "https://string-db.org/network/9606/ENSG00000113597", "synonym": "C5ORF44, FLJ13611, MGC48585", "ortholog_mouse": "Trappc13", "ortholog_c_elegans": "C56C10.7", "ortholog_xenopus": "trappc13", "ortholog_zebrafish": "trappc13", "ortholog_drosophila": "CG4953", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.33, "sd_percent_ciliated": 2.33, "z_score": 2.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.08, "sd_percent_ciliated": 1.08, "z_score": 1.08, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TRAPPC14", "ensembl_id": "ENSG00000146826", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "trafficking protein particle complex subunit 14 [Source:HGNC Symbol,Acc:HGNC:25604]", "omim_id": "618350", "functional_summary": "TRAPPC14 interacts with the distal appendage proteins Fas-binding factor 1 (FBF1) and centrosomal protein 83 (CEP83), which shows here are required for GFP-Rabin8 centrosomal accumulation, supporting a role for the TRAPPII complex in tethering preciliary vesicles to the mother basal body during ciliogenesis (31467083).TRAPPC14 localized to basal body (25613900)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "31467083 , 25613900", "complex_components": ["RAB3IP", "TRAPPC1", "TRAPPC10", "TRAPPC14", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC9"], "pfam_ids": ["PF15806", "PF23652"], "domain_descriptions": ["Trafficking protein particle complex subunit 14", "TRAPP14", "C-terminal", "TRAPP14", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000146826", "synonym": "C7ORF43, FLJ10925, MAP11", "ortholog_mouse": "Trappc14", "ortholog_xenopus": "trappc14", "ortholog_zebrafish": "trappc14", "screens": {} }, { "gene": "TRAPPC3", "ensembl_id": "ENSG00000054116", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "trafficking protein particle complex subunit 3 [Source:HGNC Symbol,Acc:HGNC:19942]", "omim_id": "610955", "functional_summary": "Component of a mammalian TRAPPII complex. Required for Rabin8 centrosomal targeting prior to ciliogenesis. Knockdown impares cilia formation by inhibiting Rabin8 recruitment to the centrosome (21273506). Candidate gene for BBS (27894351).", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "21273506 ,21273506", "complex_components": ["TRAPPC1", "TRAPPC10", "TRAPPC11", "TRAPPC12", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC3L", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC8", "TRAPPC9", "RAB3IP", "TRAPPC14", "TRAPPC13", "COPG1", "RAB18"], "pfam_ids": "PF04051", "domain_descriptions": ["Transport protein particle (TRAPP) component", "Bet3 family", "NO signalling/Golgi transport ligand-binding domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000054116", "synonym": "BET3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trappc3", "ortholog_c_elegans": "trpp-3", "ortholog_xenopus": "trappc3", "ortholog_zebrafish": "trappc3", "ortholog_drosophila": "Bet3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.4858, "sd_percent_ciliated": 9.1724, "z_score": -0.7904 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.19, "sd_percent_ciliated": 9.19, "z_score": 9.19 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.7618, "sd_percent_ciliated": 1.7618, "z_score": 1.7618 } ] }, { "gene": "TRAPPC8", "ensembl_id": "ENSG00000153339", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "trafficking protein particle complex subunit 8 [Source:HGNC Symbol,Acc:HGNC:29169]", "omim_id": "614136", "functional_summary": "TRAPPIII components, TRAPPC8 and TRAPPC12, are in the cilium formation, and TRAPPIII regulates ciliogenesis via its interaction with a ciliopathy protein, OFD1. TRAPPC8 and OFD1 inhibit that between OFD1 and TRAPPC12 (32258032)", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.2258032E7", "complex_components": ["TRAPPC1", "TRAPPC10", "TRAPPC11", "TRAPPC12", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC3L", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC8", "TRAPPC9", "TRAPPC13"], "pfam_ids": ["PF24542", "PF24545", "PF24546", "PF12739", "PF24544"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "TRAPP III complex", "Trs85"], "string_link": "https://string-db.org/network/9606/ENSG00000153339", "synonym": "GSG1, HST2706, KIAA1012, TRS85", "ortholog_mouse": "Gsg1, Trappc8", "ortholog_c_elegans": "trpp-8", "ortholog_xenopus": "gsg1, trappc8", "ortholog_zebrafish": "trappc8", "ortholog_drosophila": "l(3)76BDm", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.02, "sd_percent_ciliated": 3.02, "z_score": 3.02, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.7578, "sd_percent_ciliated": 0.7578, "z_score": 0.7578, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRAPPC9", "ensembl_id": "ENSG00000167632", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "trafficking protein particle complex subunit 9 [Source:HGNC Symbol,Acc:HGNC:30832]", "omim_id": "611966", "functional_summary": "Component of a mammalian TRAPPII complex. Required for Rabin8 centrosomal targeting prior to ciliogenesis. Knockdown impares cilia formation by inhibiting Rabin8 recruitment to the centrosome (21273506).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "16606853, 28498859 ,21273506", "complex_components": ["TRAPPC1", "TRAPPC10", "TRAPPC11", "TRAPPC12", "TRAPPC2", "TRAPPC2L", "TRAPPC3", "TRAPPC3L", "TRAPPC4", "TRAPPC5", "TRAPPC6A", "TRAPPC6B", "TRAPPC8", "TRAPPC9", "RAB3IP", "TRAPPC14", "KALRN", "COPG1", "RAB18"], "pfam_ids": "PF08626", "domain_descriptions": ["TRAPP II complex", "Trs120"], "string_link": "https://string-db.org/network/9606/ENSG00000167632", "synonym": "IKBKBBP, KIAA1882, MRT13, NIBP, T1, TRS120", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trappc9", "ortholog_c_elegans": "trpp-9", "ortholog_xenopus": "trappc9", "ortholog_drosophila": "brun", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.19, "sd_percent_ciliated": 2.19, "z_score": 2.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.6067, "sd_percent_ciliated": 2.6067, "z_score": 2.6067, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRHR", "ensembl_id": "ENSG00000174417", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "thyrotropin releasing hormone receptor [Source:HGNC Symbol,Acc:HGNC:12299]", "omim_id": "188545", "functional_summary": "Directio lly selective RGCs that are CART positive or Trhr positive localize either Arl13b or AC3, respectively, in cilia ( 35434813).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.5434813E7", "complex_components": {}, "pfam_ids": "PF00001", "domain_descriptions": ["G protein-coupled receptor", "rhodopsin-like", "Thyrotropin-releasing hormone receptor", "GPCR", "rhodopsin-like", "7TM"], "string_link": "https://string-db.org/network/9606/ENSG00000174417", "ortholog_mouse": "Trhr", "ortholog_c_elegans": "trhr-1", "ortholog_xenopus": "trhr", "ortholog_zebrafish": "trhra, trhrb", "ortholog_drosophila": "ETHR", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.4288, "sd_percent_ciliated": 3.1853, "z_score": -0.3126, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.52, "sd_percent_ciliated": 1.52, "z_score": 1.52, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.4604, "sd_percent_ciliated": -6.4604, "z_score": -6.4604, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRIM15", "ensembl_id": "ENSG00000204610", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 15 [Source:HGNC Symbol,Acc:HGNC:16284]", "functional_summary": "TRIM proteins localize to the centrosome and regulate cilia formation through condensation, highlighting the potential of TRIM condensates as key modulators in centrosome and cilia biology(PMID: 40450692).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "4.0450692E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000204610", "synonym": "RNF93, ZNF178, ZNFB7", "ortholog_mouse": "Trim15", "ortholog_c_elegans": "C28G1.6, F43C11.8, rcs-1, ZK1240.1, ZK1240.2, ZK1240.3, ZK1240.9", "ortholog_xenopus": "LOC100489535, LOC100490328, LOC100493468, LOC100493962, LOC100494464, LOC101731211, LOC105945670, LOC108644876, LOC116408231, LOC116408232, LOC116408243, LOC116408245, LOC116408247, LOC116408358, LOC116408360, LOC116408361, LOC116408362, LOC116412608, XB5796700, XB5960628", "ortholog_zebrafish": "trim47", "screens": {} }, { "gene": "TRIM32", "ensembl_id": "ENSG00000119401", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 32 [Source:HGNC Symbol,Acc:HGNC:16380]", "omim_id": "602290", "functional_summary": "I ctivating homozygous mutations cause ciliopathy BBS11 (16606853). Ubiquiti tes NPHP5 which triggers protein delocalization and loss of cilia. Loss of BBS11 causes an accumulation of NPHP5 at the centrosome (28498859).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "19112494, 16606853 ,16606853", "complex_components": ["GLIS2", "TRIM32", "DTNBP1"], "pfam_ids": ["PF13445", "PF01436"], "domain_descriptions": ["B-box-type zinc finger", "NHL repeat", "Zinc finger", "RING-type", "Six-bladed beta-propeller", "TolB-like", "Zinc finger", "RING/FYVE/PHD-type", "Zinc finger", "RING-type", "conserved site", "Zinc finger", "RING-type", "eukaryotic", "TRIM32", "B-box type 1 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000119401", "synonym": "BBS11, HT2A, LGMD2H, TATIP", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trim32", "ortholog_zebrafish": "trim32", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 48.2004, "sd_percent_ciliated": 14.7177, "z_score": 1.2347, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -9.503, "sd_percent_ciliated": -9.503, "z_score": -9.503, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRIM34", "ensembl_id": "ENSG00000258659", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 34 [Source:HGNC Symbol,Acc:HGNC:10063]", "omim_id": "605684", "functional_summary": "TRIM proteins localize to the centrosome and regulate cilia formation through condensation, highlighting the potential of TRIM condensates as key modulators in centrosome and cilia biology(PMID: 40450692).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Transcription regulation", "reference": "4.0450692E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000258659", "synonym": "RNF21", "ortholog_mouse": "Trim34a, Trim34b", "ortholog_c_elegans": "Y47G6A.14", "ortholog_xenopus": "LOC100485752, LOC101731288, LOC108645227, LOC116408003", "ortholog_zebrafish": "trim108, trim109", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.04, "sd_percent_ciliated": 4.04, "z_score": 4.04, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.12, "sd_percent_ciliated": 3.12, "z_score": 3.12, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.759, "sd_percent_ciliated": -6.759, "z_score": -6.759, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRIM43", "ensembl_id": "ENSG00000144015", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 43 [Source:HGNC Symbol,Acc:HGNC:19015]", "functional_summary": "TRIM proteins localize to the centrosome and regulate cilia formation through condensation, highlighting the potential of TRIM condensates as key modulators in centrosome and cilia biology(PMID: 40450692).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0450692E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000144015", "synonym": "TRIM43A", "ortholog_mouse": "Trim43a, Trim43b, Trim43c", "ortholog_c_elegans": "C28G1.6, F43C11.8, rcs-1, ZK1240.1, ZK1240.2, ZK1240.3, ZK1240.9", "ortholog_xenopus": "LOC116408242", "ortholog_zebrafish": "si:ch73-106l15.2, trim35-13, trim35-14, trim35-19, trim35-24, trim35-25, trim35-28, trim35-29, trim35-31, trim35-39, trim35-4, trim35-7", "screens": {} }, { "gene": "TRIM46", "ensembl_id": "ENSG00000163462", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 46 [Source:HGNC Symbol,Acc:HGNC:19019]", "omim_id": "600986", "functional_summary": "TRIM46 localized at cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00643", "PF18568", "PF13445"], "domain_descriptions": ["B-box-type zinc finger", "B30.2/SPRY domain", "Fibronectin type III", "Concanavalin A-like lectin/glucanase domain superfamily", "Immunoglobulin-like fold", "COS domain", "TRIM46", "PRY/SPRY domain", "Fibronectin type III superfamily", "Midline-1", "COS domain", "B30.2/SPRY domain superfamily", "E3 ubiquitin-protein ligases and FN3/SPRY domain-containing proteins", "Zinc finger", "RING-type", "Zinc finger", "RING/FYVE/PHD-type", "Zinc finger", "RING-type", "conserved site", "Zinc finger", "RING-type", "eukaryotic"], "string_link": "https://string-db.org/network/9606/ENSG00000163462", "synonym": "FLJ23229, TRIFIC", "ortholog_mouse": "Trim46", "ortholog_xenopus": "trim46", "ortholog_zebrafish": "trim46a, trim46b", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.8649, "sd_percent_ciliated": 6.1155, "z_score": 0.8306 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 16.7, "sd_percent_ciliated": 16.7, "z_score": 16.7 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.0512, "sd_percent_ciliated": -4.0512, "z_score": -4.0512 } ] }, { "gene": "TRIM48", "ensembl_id": "ENSG00000150244", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 48 [Source:HGNC Symbol,Acc:HGNC:19021]", "functional_summary": "TRIM proteins localize to the centrosome and regulate cilia formation through condensation, highlighting the potential of TRIM condensates as key modulators in centrosome and cilia biology(PMID: 40450692).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0450692E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000150244", "synonym": "RNF101", "ortholog_mouse": "Trim30b", "ortholog_zebrafish": "irgf4, trim107, zgc:153151", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.1584, "sd_percent_ciliated": 6.0811, "z_score": -0.3454 } ] }, { "gene": "TRIM6", "ensembl_id": "ENSG00000121236", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tripartite motif containing 6 [Source:HGNC Symbol,Acc:HGNC:16277]", "omim_id": "607564", "functional_summary": "TRIM proteins localize to the centrosome and regulate cilia formation through condensation, highlighting the potential of TRIM condensates as key modulators in centrosome and cilia biology(PMID: 40450692).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Transcription regulation", "reference": "4.0450692E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000121236", "synonym": "RNF89", "ortholog_mouse": "Trim6", "ortholog_c_elegans": "Y47G6A.14", "ortholog_zebrafish": "trim69", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.8519, "sd_percent_ciliated": 8.9043, "z_score": 1.6771 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.34, "sd_percent_ciliated": 2.34, "z_score": 2.34 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.6725, "sd_percent_ciliated": -5.6725, "z_score": -5.6725 } ] }, { "gene": "TRIO", "ensembl_id": "ENSG00000038382", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "trio Rho guanine nucleotide exchange factor [Source:HGNC Symbol,Acc:HGNC:12303]", "omim_id": "601893", "functional_summary": "TRIO has localized in ciliary tip, primary cilia.", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Neurogenesis & migration, Axon guidance & growth", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF22697", "PF00621", "PF00435", "PF16609", "PF13716", "PF00018", "PF23323", "PF07679", "PF00069", "PF23587"], "domain_descriptions": ["Dbl homology domain", "CRAL-TRIO lipid binding domain", "SH3 domain", "Pleckstrin homology domain", "Spectrin repeat", "PH-like domain superfamily", "Spectrin/alpha-actinin", "Kalirin/Triple functional domain protein", "SH3 domain 1", "Dbl homology (DH) domain superfamily", "SH3-like domain superfamily", "CRAL-TRIO lipid binding domain superfamily", "Kalirin/Triple functional domain protein", "pleckstrin homology (PH) domain 1", "Rho GTPase-activating Guanine Nucleotide Exchange Factors", "SOS1/NGEF-like", "PH domain", "Protein kinase domain", "Immunoglobulin subtype 2", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Immunoglobulin I-set", "Immunoglobulin-like fold", "Immunoglobulin-like domain superfamily", "Kalirin/Triple functional domain protein", "SH3 domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000038382", "synonym": "ARHGEF23", "ortholog_mouse": "Trio", "ortholog_c_elegans": "unc-73", "ortholog_xenopus": "trio", "ortholog_zebrafish": "trioa, triob", "ortholog_drosophila": "CG46491, trio", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.8739, "sd_percent_ciliated": 5.44, "z_score": -0.3799, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.2, "sd_percent_ciliated": 13.2, "z_score": 13.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1932, "sd_percent_ciliated": -3.1932, "z_score": -3.1932, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRIP11", "ensembl_id": "ENSG00000100815", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "thyroid hormone receptor interactor 11 [Source:HGNC Symbol,Acc:HGNC:12305]", "omim_id": "604505", "functional_summary": "Anchores IFT20 to the Golgi complex. Interacts with IFT20 and to regulate sorting and/or trafficking of proteins from Golgi to the ciliary membrane. Required for efficient targeting of polycystin-2 to the cilium. Cilia in mutant cells are shorter (19112494)", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development, ECM & connective tissue", "reference": "18719094, 29491434 ,19112494", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000100815", "synonym": "CEV14, GMAP-210, GMAP210, TRIP230", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trip11", "ortholog_c_elegans": "sql-1", "ortholog_xenopus": "trip11", "ortholog_zebrafish": "trip11", "ortholog_drosophila": "Gmap", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.8361, "sd_percent_ciliated": 5.0698, "z_score": -0.1421 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.87, "sd_percent_ciliated": 1.87, "z_score": 1.87 } ] }, { "gene": "TRIP13", "ensembl_id": "ENSG00000071539", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "thyroid hormone receptor interactor 13 [Source:HGNC Symbol,Acc:HGNC:12307]", "omim_id": "604507", "functional_summary": "TRIP13 has localized in flagella.", "localization": "flagella, Nucleus", "functional_category": "Metabolism, Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF23563", "PF23242", "PF00004"], "domain_descriptions": ["ClpA/B family", "AAA+ ATPase domain", "ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "P-loop containing nucleoside triphosphate hydrolase", "Pachytene checkpoint protein 2-like"], "string_link": "https://string-db.org/network/9606/ENSG00000071539", "synonym": "16E1BP", "ortholog_mouse": "Trip13", "ortholog_c_elegans": "pch-2", "ortholog_xenopus": "trip13", "ortholog_zebrafish": "trip13", "ortholog_drosophila": "pch2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.9872, "sd_percent_ciliated": 7.0529, "z_score": -1.0931 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.04, "sd_percent_ciliated": 2.04, "z_score": 2.04 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8022, "sd_percent_ciliated": -1.8022, "z_score": -1.8022 } ] }, { "gene": "TRIP6", "ensembl_id": "ENSG00000087077", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "thyroid hormone receptor interactor 6 [Source:HGNC Symbol,Acc:HGNC:12311]", "omim_id": "602933", "functional_summary": "The requirement for homodimerization which doubles its interaction sites, its punctate localization along the axoneme, and its co-localization with other cilia components suggest a scaffold/co-transporter function for TRIP6 in cilia(34620853).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.4620853E7", "complex_components": ["LPAR2", "NHERF2", "TRIP6", "PDLIM4", "PTPN13"], "pfam_ids": "PF00412", "domain_descriptions": ["Zinc finger", "LIM-type"], "string_link": "https://string-db.org/network/9606/ENSG00000087077", "synonym": "MGC10556, MGC10558, MGC29959, MGC3837, MGC4423, OIP1, ZRP-1", "ortholog_mouse": "Trip6", "ortholog_c_elegans": "zyx-1", "ortholog_zebrafish": "trip6", "ortholog_drosophila": "Zyx", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.8358, "z_score": 0.7334, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 61.2286, "z_score": 2.8132, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.2278 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.4, "z_score": 1.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.2115, "z_score": -6.2115, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.2115 } ] }, { "gene": "TRPC1", "ensembl_id": "ENSG00000144935", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily C member 1 [Source:HGNC Symbol,Acc:HGNC:12333]", "omim_id": "602343", "functional_summary": "TRPP2 and TRPC1 assemble to form a heteromeric channel with biophysical properties and modes of activation distinct from that of the individual channels. One of the physiological roles of this new channel is to mediate G-protein-coupled receptor (GPCR)-induced conductance in tive kidney epithelial cells(18323855).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology", "reference": "1.8323855E7", "complex_components": ["HOMER3", "ITPR3", "TRPC1", "TRPC3", "TRPC7", "ITPR1", "RHOA", "CAV1", "GNA11", "ORAI1", "STIM1", "TRPV4"], "pfam_ids": ["PF00520", "PF08344", "PF12796"], "domain_descriptions": ["Ankyrin repeat", "Transient receptor potential channel", "canonical", "Transient receptor potential channel", "canonical 1", "Ion transport domain", "Transient receptor ion channel domain", "Ankyrin repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000144935", "synonym": "HTRP-1", "ortholog_mouse": "Trpc1", "ortholog_c_elegans": "trp-2", "ortholog_xenopus": "trpc1", "ortholog_zebrafish": "trpc1", "ortholog_drosophila": "trp, Trpγ", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.5229, "sd_percent_ciliated": 16.393, "z_score": 1.5161 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.0865, "sd_percent_ciliated": -7.0865, "z_score": -7.0865 } ] }, { "gene": "TRPC3", "ensembl_id": "ENSG00000138741", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily C member 3 [Source:HGNC Symbol,Acc:HGNC:12335]", "omim_id": "602345", "functional_summary": "Mutations in the TRPC3 gene cause Spinocerebellar Ataxia (PMID: 25477146).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.5477146E7", "complex_components": ["TRPC3", "TRPC4", "TRPC1", "TRPC7", "GNA11", "ITPR1", "ITPR3", "PLCB1", "PLCB2", "PLCB3", "STX3", "TRPC6"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000138741", "ortholog_mouse": "Trpc3", "ortholog_c_elegans": "trp-1", "ortholog_xenopus": "trpc3", "ortholog_zebrafish": "trpc3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 54.9458, "sd_percent_ciliated": 11.6137, "z_score": 2.052 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.66, "sd_percent_ciliated": 9.66, "z_score": 9.66 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.2469, "sd_percent_ciliated": -2.2469, "z_score": -2.2469 } ] }, { "gene": "TRPM3", "ensembl_id": "ENSG00000083067", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily M member 3 [Source:HGNC Symbol,Acc:HGNC:17992]", "omim_id": "608961", "functional_summary": "primary cilia are required for the maximal osmotic response in re l epithelial cells and that TRPM3 is involved in this mechanism and coexpression with acetylated 伪-tubulin and 纬-tubulin(28122715).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8122715E7", "complex_components": {}, "pfam_ids": ["PF18139", "PF00520", "PF16519"], "domain_descriptions": ["Ion transport domain", "TRPM", "tetramerisation domain", "TRPM", "tetramerisation domain superfamily", "TRPM", "SLOG domain", "Transient receptor potential cation channel M"], "string_link": "https://string-db.org/network/9606/ENSG00000083067", "synonym": "GON-2, KIAA1616, LTRPC3", "ortholog_mouse": "Trpm3", "ortholog_c_elegans": "gon-2, gtl-1, gtl-2", "ortholog_xenopus": "trpm3", "ortholog_zebrafish": "trpm3", "ortholog_drosophila": "Trpm", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.6304, "sd_percent_ciliated": 5.584, "z_score": 0.5599, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.87, "sd_percent_ciliated": 1.87, "z_score": 1.87, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.655, "sd_percent_ciliated": -0.655, "z_score": -0.655, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRPM4", "ensembl_id": "ENSG00000130529", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily M member 4 [Source:HGNC Symbol,Acc:HGNC:17993]", "omim_id": "606936", "functional_summary": "TRPM4 is likely to influence the apical Ca虏鈦", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, ECM & connective tissue", "reference": "2.6290373E7", "complex_components": {}, "pfam_ids": ["PF18139", "PF00520"], "domain_descriptions": ["TRPM", "SLOG domain", "Transient receptor potential cation channel M", "Ion transport domain"], "string_link": "https://string-db.org/network/9606/ENSG00000130529", "synonym": "FLJ20041", "ortholog_mouse": "Trpm4", "ortholog_xenopus": "trpm4", "ortholog_zebrafish": "trpm4a, trpm4b.1, trpm4b.2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.5466, "sd_percent_ciliated": 1.0819, "z_score": -0.056 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.424, "sd_percent_ciliated": 0.424, "z_score": 0.424 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.5818, "sd_percent_ciliated": -3.5818, "z_score": -3.5818 } ] }, { "gene": "TRPM5", "ensembl_id": "ENSG00000070985", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily M member 5 [Source:HGNC Symbol,Acc:HGNC:14323]", "omim_id": "604600", "functional_summary": "TRPM5-expressing OSNs that project axons to glomeruli in the ventral area of the main olfactory bulb are involved in processing of information from semiochemicals(17267604).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.7267604E7", "complex_components": {}, "pfam_ids": ["PF18139", "PF00520"], "domain_descriptions": ["Ion transport domain", "TRPM", "SLOG domain", "Transient receptor potential cation channel M"], "string_link": "https://string-db.org/network/9606/ENSG00000070985", "synonym": "LTRPC5, MTR1", "ortholog_mouse": "Trpm5", "ortholog_c_elegans": "ced-11", "ortholog_zebrafish": "trpm5", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 46.3318, "sd_percent_ciliated": 5.9479, "z_score": 1.0083, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.338, "sd_percent_ciliated": 0.338, "z_score": 0.338, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0329, "sd_percent_ciliated": -6.0329, "z_score": -6.0329, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRPV4", "ensembl_id": "ENSG00000111199", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily V member 4 [Source:HGNC Symbol,Acc:HGNC:18083]", "omim_id": "605427", "functional_summary": "Mediates Ca2+ influx in response to mechanical and osmotic stimuli in ciliated epithelia, which in turns regulates the ciliary beat frequency (18719094). Mediates oscillatory fluid shear mechanotransduction in various cells via the primary cilium (29491434).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Muscle contraction & physiology, ECM & connective tissue", "reference": "29588376, 19232556 ,19232556", "complex_components": ["STIM1", "TRPV4", "AQP4", "ATP1B1", "KCNJ10", "MLC1", "SNTG1", "HEPACAM", "TRPC1"], "pfam_ids": ["PF00023", "PF00520"], "domain_descriptions": ["Ankyrin repeat", "Ion transport domain", "Transient receptor potential cation channel subfamily V member 1-4", "Transient receptor potential cation channel subfamily V member 4", "Transient receptor potential cation channel subfamily V", "Ankyrin repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000111199", "synonym": "CMT2C, OTRPC4, TRP12, VR-OAC, VRL-2, VROAC", "ciliopathy": "Spondylometaphyseal Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Trpv4", "ortholog_c_elegans": "ocr-4, osm-9", "ortholog_xenopus": "LOC100494817, trpv4, trpv4l, trpv4l.2, trpv4l.3", "ortholog_zebrafish": "trpv4", "ortholog_drosophila": "iav, nan", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.6387, "z_score": 0.3596, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.7726, "z_score": 2.2733, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.6022 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1735, "z_score": -3.1735, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.1735 } ] }, { "gene": "TRPV5", "ensembl_id": "ENSG00000274348", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily V member 5 [Source:HGNC Symbol,Acc:HGNC:3145]", "omim_id": "606679", "functional_summary": "TRPV5/6 aren't ciliary, but may work alongside cilia-regulated systems to maintain calcium balance( 15483124).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.5483124E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000274348", "synonym": "CAT2, ECAC1", "ortholog_mouse": "Trpv5", "ortholog_c_elegans": "ocr-1, ocr-2, ocr-3, ocr-4, osm-9", "ortholog_xenopus": "LOC116412277", "ortholog_zebrafish": "trpv6", "ortholog_drosophila": "iav, nan", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.1934, "sd_percent_ciliated": 4.078, "z_score": 0.7492, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1105, "sd_percent_ciliated": -3.1105, "z_score": -3.1105, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TRPV6", "ensembl_id": "ENSG00000276971", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transient receptor potential cation channel subfamily V member 6 [Source:HGNC Symbol,Acc:HGNC:14006]", "omim_id": "606680", "functional_summary": "TRPV5/6 aren't ciliary, but may work alongside cilia-regulated systems to maintain calcium balance( 15483124).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.5483124E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276971", "synonym": "CAT1, ECAC2", "ortholog_mouse": "Trpv6", "ortholog_c_elegans": "ocr-1, ocr-2, ocr-3, ocr-4, osm-9", "ortholog_xenopus": "cat1, LOC116412277, trpv5, trpv6", "ortholog_zebrafish": "trpv6", "ortholog_drosophila": "iav, nan", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.8111, "z_score": 0.4134, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 57.8141, "z_score": 2.3995, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 4.9161 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.427, "z_score": 0.427, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.427 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.6056, "z_score": 1.6056, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 1.6056 } ] }, { "gene": "TRRAP", "ensembl_id": "ENSG00000196367", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "transformation/transcription domain associated protein [Source:HGNC Symbol,Acc:HGNC:12347]", "omim_id": "603015", "functional_summary": "Central regulator of multiciliated cells formation. Acts downstream of Notch 2 and upstream Multicilin in regulation of ciliated cell formation, binds to the promoters and regulates the expression of genes involved in multiciliated cell differentiation and function, including several genes associated with human ciliopathies like PCD. Required for FOXJ1 expression. Knockdown of TRRAP decreased the number of ciliated cells, and knockout mice are not viable (29588376).", "localization": "basal body, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "19008302, 18845692, 29396625, 19321600", "complex_components": ["BRCA1", "KAT2A", "MSH2", "MSH6", "SUPT3H", "TADA3", "TAF10", "TAF5L", "TAF9", "TRRAP", "ESR1", "MED1", "MED12", "MED13", "MED14", "MED16", "MED17", "MED23", "MED24", "ATXN7", "SF3B3", "TAF12", "TAF2", "TAF4", "TAF5", "TAF6", "TAF6L", "TAF7", "TAF13", "TAF9B", "KAT2B", "TADA2A", "SUPT7L", "TADA1", "ACTL6A", "KAT5", "RUVBL1", "RUVBL2", "BRD8", "DMAP1", "EP400", "EPC1", "ING3", "MEAF6", "MORF4L1", "MORF4L2", "MRGBP", "YEATS4", "VPS72", "MRE11", "NBN", "RAD50", "EPC2", "SRCAP", "ACTB", "MYC", "MAX", "ATXN7L3", "TADA2B", "USP22", "ADA", "ATXN7L1", "ATXN7L2", "SGF29", "SUPT20H", "ENY2", "SAP130", "ANP32E", "H2AZ1", "H2BC4", "H3C1", "H4C1", "IPO9", "PRKDC", "XRCC5", "XRCC6", "ZNHIT1", "HINFP", "NPAT", "ACTBL2", "CREB3L2", "H2AC20", "H2AZ2", "H2BC18", "MBTD1", "TUBB"], "pfam_ids": ["PF20175", "PF20206", "PF02259", "PF00454", "PF02260"], "domain_descriptions": ["Phosphatidylinositol 3-/4-kinase", "catalytic domain", "PIK-related kinase", "FAT", "FATC domain", "Protein kinase-like domain superfamily", "Armadillo-like helical", "PIK-related kinase", "Armadillo-type fold", "Tra1", "HEAT repeat ring region", "Tra1", "HEAT repeat central region", "DNA Damage Response and Repair Kinase", "Phosphatidylinositol 3-/4-kinase", "catalytic domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000196367", "synonym": "PAF400, TR-AP, TRA1", "ortholog_mouse": "Trrap", "ortholog_c_elegans": "trr-1", "ortholog_xenopus": "trrap", "ortholog_zebrafish": "trrap", "ortholog_drosophila": "Nipped-A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.4945, "sd_percent_ciliated": 3.0064, "z_score": 1.2704 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.01, "sd_percent_ciliated": 4.01, "z_score": 4.01 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.7635, "sd_percent_ciliated": 0.7635, "z_score": 0.7635 } ] }, { "gene": "TSC1", "ensembl_id": "ENSG00000165699", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "TSC complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:12362]", "omim_id": "605284", "functional_summary": "Regulates the length of cilia. Form a complex with TSC2 that negatively regulates the nTOR pathway and, in turn, cell growth, proliferation and survival (19008302). Mutations have been associated with Tuberous sclerosis complex and polycystic kidney disease. Loss of Tsc1 or Tsc2 enhances ciliary formation and elongation (18845692). Required for activation of canonical TGF-尾 sig ling. Regulates Smoothened (SMO)- dependent HH sig ling in cilia (29396625). Role in maintaining cell polarity (19321600).", "localization": "basal body, transition zone, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, T cell biology, Protein processing & maturation, Cell migration & adhesion, Cardiac & muscle development, Transition zone", "reference": "19008302, 18845692, 29396625, 19321600, 20169078", "complex_components": ["AXIN1", "GSK3B", "TSC1", "TSC2", "TBC1D7", "CDC37", "HSP90AA1", "HSPA1A", "PPP5C"], "pfam_ids": "PF04388", "domain_descriptions": ["Hamartin", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000165699", "synonym": "HAMARTIN, KIAA0243, LAM, TSC", "ortholog_mouse": "Tsc1", "ortholog_xenopus": "tsc1", "ortholog_zebrafish": "tsc1a, tsc1b", "ortholog_drosophila": "Tsc1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 37.2508, "sd_percent_ciliated": 1.2244, "z_score": -0.0919 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 12.2, "sd_percent_ciliated": 12.2, "z_score": 12.2 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.0235, "sd_percent_ciliated": -0.0235, "z_score": -0.0235 } ] }, { "gene": "TSC2", "ensembl_id": "ENSG00000103197", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "TSC complex subunit 2 [Source:HGNC Symbol,Acc:HGNC:12363]", "omim_id": "191092", "functional_summary": "Form a complex with TSC1 that negatively regulates the TOR pathway and, in turn, cell growth, proliferation and survival (19008302).Mutations have been associated with Tuberous sclerosis complex and polycystic kidney disease. Loss of Tsc1 or Tsc2 enhances ciliary formation and elongation (18845692). Regulates Smoothened (SMO)- dependent HH sig ling in cilia (29396625). Role in maintaining cell polarity. Associates with the GSK3/axin complex to inhibit canonical Wnt-sig lling (19321600). Required for the normal trafficking of PC-1 from the Golgi to the membrane (20169078).", "localization": "basal body, flagella, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.6643851E7", "complex_components": ["AXIN1", "GSK3B", "TSC1", "TSC2", "HERC1", "TBC1D7", "DVL1", "CDC37", "HSP90AA1", "HSPA1A", "PPP5C"], "pfam_ids": ["PF02145", "PF11864", "PF03542"], "domain_descriptions": ["Rap/Ran-GAP domain", "Tuberin", "Armadillo-like helical", "Armadillo-type fold", "Tuberin-type domain", "Tuberin", "N-terminal", "Tuberin/Ral GTPase-activating protein subunit alpha", "Rap/Ran-GAP superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000103197", "synonym": "LAM, PPP1R160, TSC4, TUBERIN", "ortholog_mouse": "Tsc2", "ortholog_xenopus": "tsc2", "ortholog_zebrafish": "tsc2", "ortholog_drosophila": "gig", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.515, "sd_percent_ciliated": 7.0242, "z_score": 0.4247 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 62.9, "sd_percent_ciliated": 62.9, "z_score": 62.9 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.0723, "sd_percent_ciliated": -5.0723, "z_score": -5.0723 } ] }, { "gene": "TSG101", "ensembl_id": "ENSG00000074319", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "tumor susceptibility 101 [Source:HGNC Symbol,Acc:HGNC:15971]", "omim_id": "601387", "functional_summary": "TSG101 itself is not a ciliary protein, but it may functio lly intersect with ciliary proteins like IFT20 outside the cilium — especially in T cells and immune sig ling ( 37029318).", "localization": "Ciliary associated gene, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.7029318E7", "complex_components": ["TSG101", "VPS28", "VPS37C", "VPS37B", "MVB12B", "PDCD6", "PDCD6IP", "VPS37A", "VPS37D", "PARP1", "Nr3c1"], "pfam_ids": ["PF09454", "PF05743"], "domain_descriptions": ["Ubiquitin E2 variant", "N-terminal", "Ubiquitin-conjugating enzyme/RWD-like", "Steadiness box (SB) domain", "ESCRT assembly domain", "ESCRT-I complex UEV domain-containing protein"], "string_link": "https://string-db.org/network/9606/ENSG00000074319", "synonym": "TSG10, VPS23", "ortholog_mouse": "Tsg101", "ortholog_c_elegans": "tsg-101", "ortholog_xenopus": "tsg101", "ortholog_zebrafish": "tsg101a, tsg101b", "ortholog_drosophila": "TSG101", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.0608, "sd_percent_ciliated": 0.3899, "z_score": 0.1274, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.48, "sd_percent_ciliated": 1.48, "z_score": 1.48, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.4654, "sd_percent_ciliated": -4.4654, "z_score": -4.4654, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TSGA10", "ensembl_id": "ENSG00000135951", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "testis specific 10 [Source:HGNC Symbol,Acc:HGNC:14927]", "omim_id": "607166", "functional_summary": "Role in spermatogenesis. Possible role in the structure of primary cilium, as it was found to colocalise with gamma- tubulin in COS-1 cells (16643851).", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Transition zone", "reference": "23141541, 18037885, 24982133, 25297623, 31455668, 30532139", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000135951", "synonym": "CEP4L, CT79", "ortholog_mouse": "Tsga10", "ortholog_xenopus": "tsga10", "ortholog_zebrafish": "tsga10", "ortholog_drosophila": "Cep135", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.2076, "sd_percent_ciliated": 7.1885, "z_score": 0.1452, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.29, "sd_percent_ciliated": 4.29, "z_score": 4.29, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0422, "sd_percent_ciliated": 1.0422, "z_score": 1.0422, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TSGA10IP", "ensembl_id": "ENSG00000175513", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "testis specific 10 interacting protein [Source:HGNC Symbol,Acc:HGNC:26555]", "functional_summary": "TSGA10IP has localized in flagella.", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000175513", "synonym": "FAM161C, FLJ32880", "ortholog_mouse": "Tsga10ip", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.61, "sd_percent_ciliated": 0.61, "z_score": 0.61, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TSSK1B", "ensembl_id": "ENSG00000212122", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "testis specific serine kinase 1B [Source:HGNC Symbol,Acc:HGNC:14968]", "omim_id": "610709", "functional_summary": "TSSK1B has localized in basal body, transition zone.", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000212122", "synonym": "FKSG81, SPOGA4, STK22D, TSSK1", "ortholog_mouse": "Tssk1", "ortholog_c_elegans": "C27D6.11, tag-344, Y38H8A.4", "ortholog_drosophila": "Tssk", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.25, "sd_percent_ciliated": 4.25, "z_score": 4.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1418, "sd_percent_ciliated": -1.1418, "z_score": -1.1418, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTBK2", "ensembl_id": "ENSG00000128881", "overexpression_effects": "No effect", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "tau tubulin kinase 2 [Source:HGNC Symbol,Acc:HGNC:19141]", "omim_id": "611695", "functional_summary": "Regulator of the initiation of ciliogenesis in vivo. Ttbk2 mutants lack cilia. Promotes the removal of CP110 from the mother centriole, the recruitment and retention of IFT proteins at the distal end of basal body, to initiate the assembly of the ciliary axoneme (23141541). Mutations have been associated with domi nt human neurodegenerative disorder Spinocerebellar Ataxia type 11 (18037885). Interacts in a complex with CP164, which is required for its ciliary localisation. Promotes assembly of distal appendages at both centrioles and Cep83 localisation (24982133). Phosphorylates Cep164, Cep97 and inhibits the interaction between Cep164 and Dvl3 (25297623). Phosphorylated CEP83, which is required for ciliary vesicle docking and CP110 removal (31455668). To investigate if elevated TTBK2 expression promoted ciliogenesis or extended cilia length, cells were subjected to serum starvation to induce cilia formation, but neither cilia formation nor cilia length was affected by TTBK2 overexpression (Fig. 3E–G), indicating that the increased frequency of ciliation by TTBK2 overexpression was not attributable to a promotion of ciliogenesis or cilia elongation.ciliogenesis, to regulate cilium stability (30532139). To examine if TTBK2 kinase activity is required for its function in GNP proliferation, we mutated TTBK2 residue D163 from aspartic acid to alanine (TTBK2KD) [24, 26] and expressed TTBK2KD in GNPs. Surprisingly, a majority of TTBK2KD-expressing cells exited the cell cycle and migrated prematurely to the IGL, indicating that TTBK2-dependent GNP proliferation relies on TTBK2 activity (Fig. 2E, F). By performing Arl13b staining, TTBK2 overexpression in GNPs increased the percentage of ciliated GNPs, indicating that elevated TTBK2 levels in GNPs stabilize primary cilia (Figs. 2G and S2B). Furthermore, in developing cerebella electroporated with TTBK2KD, proportions of ciliated GNPs were greatly reduced (Figs. 2G and S2B), confirming that TTBK2 supports GNP proliferation through TTBK2’s activity-dependent stabilization of primary cilia. (38879724)", "localization": "basal body,cilia , transition zone, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Transition zone, Cilia length regulation", "reference": "23300604, 31978331, 18037885, 38879724", "complex_components": ["CEP164", "TTBK2"], "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Protein kinase-like domain superfamily", "Protein kinase", "ATP binding site", "Tau-Tubulin Kinase 2", "catalytic domain", "Casein Kinase 1 Ser/Thr Protein Kinase"], "string_link": "https://string-db.org/network/9606/ENSG00000128881", "synonym": "KIAA0847, SCA11", "ortholog_mouse": "Ttbk2", "ortholog_c_elegans": "C56C10.6, D2045.5, F35C11.3, F54H5.2, K06H7.8, M05D6.1, tag-191, ttbk-7", "ortholog_xenopus": "ttbk2", "ortholog_zebrafish": "ttbk2a, ttbk2b", "ortholog_drosophila": "Asator", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.3601, "sd_percent_ciliated": 9.7361, "z_score": -1.0479, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 35.3, "sd_percent_ciliated": 35.3, "z_score": 35.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3021, "sd_percent_ciliated": -6.3021, "z_score": -6.3021, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC12", "ensembl_id": "ENSG00000149292", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tetratricopeptide repeat domain 12 [Source:HGNC Symbol,Acc:HGNC:23700]", "omim_id": "610732", "functional_summary": "Centrosome component (23300604). Involved in the assembly and/or transport of axonemal dynein arms. Loss of function affects both ODA and IDA. In paramecia, knockdown led to the absence of dynein arms (31978331).", "localization": "flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "24475127, 31978331 ,31978331", "complex_components": {}, "pfam_ids": ["PF00515", "PF13181"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 12", "Armadillo-like helical", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000149292", "synonym": "FLJ13859, FLJ20535, TPARM", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttc12", "ortholog_c_elegans": "rpap-3", "ortholog_xenopus": "ttc12", "ortholog_zebrafish": "ttc12", "ortholog_drosophila": "CG31294, CG34274, CG34297, CG6980", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -3.2103, "z_score": -1.4667, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 19.1681, "z_score": -2.2827, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 7.6899 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3317, "z_score": 0.3317, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.3317 } ] }, { "gene": "TTC17", "ensembl_id": "ENSG00000052841", "overexpression_effects": "Unknown", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "tetratricopeptide repeat domain 17 [Source:HGNC Symbol,Acc:HGNC:25596]", "omim_id": "619388", "functional_summary": "Interacts with C2orf62 and regulates ciliogenesis and actin polymerisation in ciliated cells. Depletion reduces the number of primary cilia but does not alter their length (24475127).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "21258341, 24876116, 24876116, 29615573", "complex_components": {}, "pfam_ids": ["PF13181", "PF09295"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 17", "Chs5p-Arf1p binding"], "string_link": "https://string-db.org/network/9606/ENSG00000052841", "synonym": "FLJ10890", "ortholog_mouse": "Ttc17", "ortholog_c_elegans": "ttc-17", "ortholog_xenopus": "ttc17", "ortholog_zebrafish": "ttc17", "ortholog_drosophila": "CG11436", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 25.5372, "sd_percent_ciliated": 2.4118, "z_score": -1.5111, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 7.78, "sd_percent_ciliated": 7.78, "z_score": 7.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3781, "sd_percent_ciliated": -1.3781, "z_score": -1.3781, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC21B", "ensembl_id": "ENSG00000123607", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "tetratricopeptide repeat domain 21B [Source:HGNC Symbol,Acc:HGNC:25660]", "omim_id": "612014", "functional_summary": "Encodes a retrograde intraflagellar transport-A complex, associates with the motor protein dynein2 to regulate retrograde trafficking in the primary cilium. Knockdown induces microtubule anchoring defects (24876116). Mutated in nephronophthisis, syndromic Jeune Asphyxiating Thoracic Dystrophy (21258341), Focal Segmental glomerulosclerosis (24876116) and Joubert Syndrome (29615573).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "32055034, 29459677, 21258341, 32238723, 33547761, 35112343, 25492405, 33599192 ,35112343; 32238723; 21258341; 33599192; 25492405; 24876116", "complex_components": ["IFT122", "IFT140", "TTC21B", "WDR19", "WDR35", "IFT43", "TULP3"], "pfam_ids": ["PF25068", "PF13181", "PF25062", "PF25063", "PF25060", "PF25058", "PF25064"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 21A/21B", "Tetratricopeptide repeat protein 21A/21B", "second ARM domain", "Tetratricopeptide repeat protein 21A/21B", "N-terminal ARM repeat", "Tetratricopeptide repeat protein 21A/21B", "C-terminal ARM domain", "Tetratricopeptide repeat protein 21A/21B", "fifth ARM repeats domain", "Tetratricopeptide repeat protein 21A/21B", "fourth ARM domain"], "string_link": "https://string-db.org/network/9606/ENSG00000123607", "synonym": "CFAP60, FAP60, FLA17, FLJ11457, IFT139, IFT139B, JBTS11, NPHP12, THM1", "ciliopathy": "Bardet–Biedl Syndrome; Bilateral Polycystic Kidney Disease; Joubert Syndrome; Nephronophthisis; Retinal Dystrophy; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies; Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttc21b", "ortholog_c_elegans": "ift-139", "ortholog_xenopus": "ttc21b", "ortholog_zebrafish": "ttc21b", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 71.9, "sd_percent_ciliated": 71.9, "z_score": 71.9, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.8112, "sd_percent_ciliated": -8.8112, "z_score": -8.8112, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC23", "ensembl_id": "ENSG00000103852", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "tetratricopeptide repeat domain 23 [Source:HGNC Symbol,Acc:HGNC:25730]", "functional_summary": "Mutated in OFD. TTC23 localizes to the shaft of the cilia in controls but is restricted mainly to the base of the cilia in patient fibroblasts. Patient fibroblasts show normal ciliogenesis but increased length of cilia compared with control (32055034). Affinity purification and mass spectrometry show TTC23 to strongly associate with IQCE and EFCAB7, components of the Ellis鈥搗an Creveld (EvC) zone (29459677)", "localization": "basal body, cilia , transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "27486780, 33347437, 17961536 ,32055034", "complex_components": {}, "pfam_ids": "PF13424", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein TTC23/TTC23L"], "string_link": "https://string-db.org/network/9606/ENSG00000103852", "synonym": "FLJ12572, HCC-8", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttc23", "ortholog_zebrafish": "ttc23", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 31.4, "sd_percent_ciliated": 31.4, "z_score": 31.4, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9292, "sd_percent_ciliated": 1.9292, "z_score": 1.9292, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC29", "ensembl_id": "ENSG00000137473", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tetratricopeptide repeat domain 29 [Source:HGNC Symbol,Acc:HGNC:29936]", "omim_id": "618735", "functional_summary": "Also known as NYD-SP14. Strongly expressed in tissues with motile cilia and flagella. Functions in cilia and flagella, most likely as an inner-arm dynein subunit. Chlamydomo s homologue encodes 44kDa subunit of axonemal dynein (17981992). Involved in functio l interaction with the IFT machinery, participating in anterograde IFT. Mutations have been associated with multiple morphological abnormalities of the flagella (31735294).", "localization": "cilia, flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "29654116, 2053481", "complex_components": {}, "pfam_ids": ["PF13432", "PF13424"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Bacterial Response Regulator Aspartate Phosphatase"], "string_link": "https://string-db.org/network/9606/ENSG00000137473", "synonym": "NYD-SP14", "ortholog_mouse": "Ttc29", "ortholog_xenopus": "ttc29", "ortholog_zebrafish": "ttc29", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0436, "sd_percent_ciliated": 0.0436, "z_score": 0.0436, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.3161, "sd_percent_ciliated": -4.3161, "z_score": -4.3161, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC36", "ensembl_id": "ENSG00000172425", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tetratricopeptide repeat domain 36 [Source:HGNC Symbol,Acc:HGNC:33708]", "omim_id": "620701", "functional_summary": "TTC36 mainly interacted with IFT-A complex(25860617).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5860617E7", "complex_components": {}, "pfam_ids": "PF13424", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 36"], "string_link": "https://string-db.org/network/9606/ENSG00000172425", "synonym": "HBP21", "ortholog_mouse": "Ttc36", "ortholog_c_elegans": "ttc-36", "ortholog_xenopus": "ttc36", "ortholog_zebrafish": "ttc36", "ortholog_drosophila": "CG14105", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.36, "sd_percent_ciliated": 1.36, "z_score": 1.36, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0204, "sd_percent_ciliated": -3.0204, "z_score": -3.0204, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC39C", "ensembl_id": "ENSG00000168234", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tetratricopeptide repeat domain 39C [Source:HGNC Symbol,Acc:HGNC:26595]", "functional_summary": "TTC39c has weak association with IFT144 and IFT139, two subunits of IFT-A(25860617). TTC39A/C and TMEM145 are localized to the cilia of sensory neurons in the head (amphid) and tail (phasmid) of C. elegans (38989623).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "25860617 , 38989623", "complex_components": {}, "pfam_ids": "PF10300", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Inclusion body clearance protein Iml2/Tetratricopeptide repeat protein 39"], "string_link": "https://string-db.org/network/9606/ENSG00000168234", "synonym": "C18ORF17, FLJ33761, HST2697", "ortholog_mouse": "Ttc39c", "ortholog_xenopus": "ttc39c", "ortholog_zebrafish": "ttc39c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.98, "sd_percent_ciliated": 3.98, "z_score": 3.98, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.8219, "sd_percent_ciliated": -3.8219, "z_score": -3.8219, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTC4", "ensembl_id": "ENSG00000243725", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tetratricopeptide repeat domain 4 [Source:HGNC Symbol,Acc:HGNC:12394]", "omim_id": "606753", "functional_summary": "TTC4 and TTC9c interacted specifically with BBS7 (25860617).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "2.5860617E7", "complex_components": {}, "pfam_ids": "PF18972", "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Cns1/TTC4", "wheel domain"], "string_link": "https://string-db.org/network/9606/ENSG00000243725", "synonym": "CNS1, FLJ41930, MGC5097", "ortholog_mouse": "Ttc4", "ortholog_c_elegans": "ttc-4", "ortholog_xenopus": "ttc4", "ortholog_zebrafish": "ttc4", "ortholog_drosophila": "Dpit47", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.5562, "z_score": 0.3338, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 45.1441, "z_score": 0.8644, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.392 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 12.9, "z_score": 12.9, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 12.9 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -11.4782, "z_score": -11.4782, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -11.4782 } ] }, { "gene": "TTC6", "ensembl_id": "ENSG00000139865", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tetratricopeptide repeat domain 6 [Source:HGNC Symbol,Acc:HGNC:19739]", "omim_id": "620954", "functional_summary": "Mutated in MKS. TTC6 localizes to the centrosome and ciliary shaft in controls but only to the centrosome in patient fibroblasts (32055034)", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "14520415, 20643117, 29126234, 30446775 ,32055034", "complex_components": {}, "pfam_ids": ["PF00515", "PF13181", "PF07719", "PF13432"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat 2", "Tetratricopeptide repeat", "Photosystem I assembly protein Ycf3"], "string_link": "https://string-db.org/network/9606/ENSG00000139865", "synonym": "C14ORF25, NCRNA00291", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttc6", "ortholog_xenopus": "ttc6", "ortholog_zebrafish": "ttc6", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.9096, "sd_percent_ciliated": 5.8082, "z_score": -0.6179 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.77, "sd_percent_ciliated": 0.77, "z_score": 0.77 } ] }, { "gene": "TTC8", "ensembl_id": "ENSG00000165533", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "tetratricopeptide repeat domain 8 [Source:HGNC Symbol,Acc:HGNC:20087]", "omim_id": "608132", "functional_summary": "Also known as BBS8. Component of the BBSome complex, interacts with PCM1. Mutations leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry (14520415). Role in intraciliary/flagellar transport, coordi ting the velocity of the kinesin molecular motors during anterograde transport. Interacts with Vangl2 to establish and maintain of vertebrate left-right asymmetry. It may also be responsible for maintaining normal cilium length in the KV but not cilia number (20643117). Required for the development, mainte nce and survival of photoreceptors and outer segments in both rods and cones (29126234). Knockdown reduces ciliary length and increases levels of HDAC6 (30446775).", "localization": "flagella, basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone, Axon guidance & growth, Transcription regulation", "reference": "23388454, 26195043, 14520415 ,14520415", "complex_components": ["BBIP1", "BBS1", "BBS2", "BBS4", "BBS5", "BBS7", "BBS9", "TTC8", "PKD1"], "pfam_ids": ["PF13181", "PF13432", "PF13424", "PF13174", "PF14559"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "Tetratricopeptide repeat protein 8"], "string_link": "https://string-db.org/network/9606/ENSG00000165533", "synonym": "BBS8, RP51", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttc8", "ortholog_c_elegans": "bbs-8", "ortholog_xenopus": "ttc8", "ortholog_zebrafish": "ttc8", "ortholog_drosophila": "BBS8", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.7105, "sd_percent_ciliated": 8.8166, "z_score": -0.1574 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 22.4, "sd_percent_ciliated": 22.4, "z_score": 22.4 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.2813, "sd_percent_ciliated": 2.2813, "z_score": 2.2813 } ] }, { "gene": "TTC9C", "ensembl_id": "ENSG00000162222", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tetratricopeptide repeat domain 9C [Source:HGNC Symbol,Acc:HGNC:28432]", "functional_summary": "TTC4 and TTC9c interacted specifically with BBS7 (25860617).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.5860617E7", "complex_components": {}, "pfam_ids": ["PF13432", "PF14559"], "domain_descriptions": ["Tetratricopeptide-like helical domain superfamily", "Tetratricopeptide repeat", "AIP/AIPL1/TTC9"], "string_link": "https://string-db.org/network/9606/ENSG00000162222", "synonym": "MGC29649", "ortholog_mouse": "Ttc9c", "ortholog_xenopus": "ttc9c", "ortholog_zebrafish": "ttc9c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.53, "sd_percent_ciliated": 7.53, "z_score": 7.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.5958, "sd_percent_ciliated": -6.5958, "z_score": -6.5958, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTF1", "ensembl_id": "ENSG00000125482", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "transcription termination factor 1 [Source:HGNC Symbol,Acc:HGNC:12397]", "omim_id": "600777", "functional_summary": "Ciliated metaplasia (CM) is associated with the expression of TTF-1 and HFH-4. Furthermore, TTF-1 expression was found in non-ciliated cells in 50% of cases with atrophic gastritis, whereas TTF-1 and HFH-4 were not expressed in normal gastric mucosa or in non-atrophic gastritis ( 15912575).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "1.5912575E7", "complex_components": {}, "pfam_ids": "PF13921", "domain_descriptions": ["SANT/Myb domain", "Transcription Termination Factor 1-like"], "string_link": "https://string-db.org/network/9606/ENSG00000125482", "ortholog_mouse": "Ttf1", "ortholog_xenopus": "ttf1", "ortholog_zebrafish": "ttf1.1, ttf1.2, ttf1.5, ttf1.6", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.0163, "sd_percent_ciliated": 2.2166, "z_score": 1.3336 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.56, "sd_percent_ciliated": 1.56, "z_score": 1.56 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -12.2688, "sd_percent_ciliated": -12.2688, "z_score": -12.2688 } ] }, { "gene": "TTK", "ensembl_id": "ENSG00000112742", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TTK protein kinase [Source:HGNC Symbol,Acc:HGNC:12401]", "omim_id": "604092", "functional_summary": "Also known as MPS1. Negative regulator of ciliogenesis. Interacts with VDAC3 at the centrosome to promote ciliary disassembly during cell cycle entry and proliferation. Essential for the recruitment of Centrin 2 to the procentrioles (23388454).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm", "reference": "20442420 ,23388454", "complex_components": {}, "pfam_ids": "PF00069", "domain_descriptions": ["Protein kinase domain", "Serine/threonine-protein kinase", "active site", "Protein kinase-like domain superfamily", "Tetratricopeptide-like helical domain superfamily", "Protein kinase", "ATP binding site", "Protein kinase Mps1 family", "catalytic domain"], "string_link": "https://string-db.org/network/9606/ENSG00000112742", "synonym": "CT96, MPH1, MPS1, MPS1L1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttk", "ortholog_xenopus": "ttk", "ortholog_zebrafish": "ttk", "ortholog_drosophila": "Mps1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.5403, "sd_percent_ciliated": 1.8955, "z_score": 0.549, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.37, "sd_percent_ciliated": 4.37, "z_score": 4.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.9622, "sd_percent_ciliated": -6.9622, "z_score": -6.9622, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTL", "ensembl_id": "ENSG00000114999", "overexpression_effects": "Decreased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase [Source:HGNC Symbol,Acc:HGNC:21586]", "omim_id": "608291", "functional_summary": "TTL controls microtubule modification and thereby indirectly regulates ciliogenesis and ciliary structure, but TTL itself is not physically located inside or on the cilium. It acts upstream by modifying α-tubulin, which cilia need to build their structure ( 35903547).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.5903547E7", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": ["Tubulin-tyrosine ligase/Tubulin polyglutamylase", "Tubulin--tyrosine ligase", "ATP-grasp fold", "subdomain 1"], "string_link": "https://string-db.org/network/9606/ENSG00000114999", "synonym": "MGC46235", "ortholog_mouse": "Ttl", "ortholog_xenopus": "ttl", "ortholog_zebrafish": "ttl", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.8909, "sd_percent_ciliated": 2.9229, "z_score": -0.0143, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.249, "sd_percent_ciliated": 0.249, "z_score": 0.249, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5126, "sd_percent_ciliated": -0.5126, "z_score": -0.5126, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL1", "ensembl_id": "ENSG00000100271", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "TTL family tubulin polyglutamylase complex subunit L1 [Source:HGNC Symbol,Acc:HGNC:1312]", "omim_id": "608955", "functional_summary": "Involved in the post- translatio l polyglutamylation of tubulin in axonemal within cilia and flagella, this glutamylation is required to generate a curved cilia waveform. Essential for normal motility of respiratory ciliary and for the biogenesis and integrity of sperm flagella, as PCD phenotype is seen in KO mice (20442420).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "19531357, 21262966, 25180231", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000100271", "synonym": "C22ORF7, PGS3, TPGS3", "ortholog_mouse": "Ttll1", "ortholog_xenopus": "ttll1", "ortholog_zebrafish": "ttll1", "ortholog_drosophila": "TTLL1A, TTLL1B", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.9708, "sd_percent_ciliated": 1.6386, "z_score": -0.1258 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.6217, "sd_percent_ciliated": 0.6217, "z_score": 0.6217 } ] }, { "gene": "TTLL10", "ensembl_id": "ENSG00000162571", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 10 [Source:HGNC Symbol,Acc:HGNC:26693]", "functional_summary": "TTLL10 produces R-polygly-recognized when co-expressed with TTLL8(28576883).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8576883E7", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": ["Tubulin-tyrosine ligase/Tubulin polyglutamylase", "Protein polyglycylase TTLL10"], "string_link": "https://string-db.org/network/9606/ENSG00000162571", "synonym": "FLJ36119, TTLL5", "ortholog_mouse": "Ttll10, Ttll5", "ortholog_c_elegans": "ttll-5", "ortholog_xenopus": "ttll10, ttll5", "ortholog_zebrafish": "ttll10, ttll5", "ortholog_drosophila": "TTLL5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.101, "sd_percent_ciliated": 0.101, "z_score": 0.101, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9686, "sd_percent_ciliated": -0.9686, "z_score": -0.9686, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL11", "ensembl_id": "ENSG00000175764", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tubulin tyrosine ligase like 11 [Source:HGNC Symbol,Acc:HGNC:18113]", "omim_id": "620694", "functional_summary": "Ttll1p showed a chain-initiating activity and disruption of the TTLL1 and TTLL9 genes decreased the rates of cell multiplication and phagocytosis(18586949).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "18586949 , 17499049", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000175764", "synonym": "BA244O19.1, C9ORF148, C9ORF20, TTLL11-IT1", "ortholog_mouse": "Ttll11", "ortholog_c_elegans": "ttll-11", "ortholog_xenopus": "ttll11", "ortholog_zebrafish": "ttll11", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.85, "sd_percent_ciliated": 1.85, "z_score": 1.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1271, "sd_percent_ciliated": 0.1271, "z_score": 0.1271, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL12", "ensembl_id": "ENSG00000100304", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "tubulin tyrosine ligase like 12 [Source:HGNC Symbol,Acc:HGNC:28974]", "omim_id": "619410", "functional_summary": "TTLL12 localizes to the base of primary cilia and is required for cilia formation in polarized re l epithelial cells. TTLL12 directly binds to the 伪/尾-tubulin heterodimer in vitro and regulates microtubule dy mics, stability, and post-translatio l modifications (PTMs)(37546873).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "3.7546873E7", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": ["Tubulin-tyrosine ligase/Tubulin polyglutamylase", "Tubulin--tyrosine ligase-like protein 12"], "string_link": "https://string-db.org/network/9606/ENSG00000100304", "synonym": "KIAA0153", "ortholog_mouse": "Ttll12", "ortholog_c_elegans": "ttll-12", "ortholog_xenopus": "ttll12", "ortholog_zebrafish": "ttll12", "ortholog_drosophila": "TTLL12", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.37, "sd_percent_ciliated": 3.37, "z_score": 3.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.2944, "sd_percent_ciliated": -8.2944, "z_score": -8.2944, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL13", "ensembl_id": "ENSG00000213471", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 13 [Source:HGNC Symbol,Acc:HGNC:32484]", "omim_id": "620485", "functional_summary": "TTLL13 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000213471", "synonym": "FLJ46079, MGC33417, TTLL13P", "ortholog_mouse": "Ttll13", "ortholog_xenopus": "ttll13", "ortholog_zebrafish": "ttll6", "ortholog_drosophila": "TTLL6A", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -4.6262, "sd_percent_ciliated": -4.6262, "z_score": -4.6262, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL3", "ensembl_id": "ENSG00000214021", "overexpression_effects": "Decreased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tubulin tyrosine ligase like 3 [Source:HGNC Symbol,Acc:HGNC:24483]", "omim_id": "619195", "functional_summary": "Functions in posttranslatio l glycylation of . Required for either elongation or stability of axonemes (19531357). Depletion leads to shortening and loss of axonemes (21262966). Required for primary cilia formation and control of cell proliferation. Only glycylase expressed in colon (25180231).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "30120249, 24791901, 27162334, 28173158", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": ["Tubulin-tyrosine ligase/Tubulin polyglutamylase", "Tubulin tyrosine ligase-like monoglycylase"], "string_link": "https://string-db.org/network/9606/ENSG00000214021", "synonym": "DKFZP434B103, HOTTL", "ortholog_mouse": "Ttll3", "ortholog_xenopus": "LOC100490189, LOC100493511, LOC100496251, LOC101730911, LOC101734221, LOC105946870, LOC116408257, LOC116409496, LOC116409788, ttll3, XB5950141", "ortholog_zebrafish": "ttll3", "ortholog_drosophila": "TTLL3A", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 44.8199, "sd_percent_ciliated": 3.7227, "z_score": 0.8251, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0137, "sd_percent_ciliated": 0.0137, "z_score": 0.0137, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.99, "sd_percent_ciliated": 1.99, "z_score": 1.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL4", "ensembl_id": "ENSG00000135912", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 4 [Source:HGNC Symbol,Acc:HGNC:28976]", "omim_id": "618738", "functional_summary": "TTLL4 is present in cilia and in some cells also at the basal bodies (17499049).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "1.8586949E7", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000135912", "synonym": "KIAA0173", "ortholog_mouse": "Ttll4", "ortholog_c_elegans": "ttll-4", "ortholog_xenopus": "ttll4", "ortholog_zebrafish": "ttll4", "ortholog_drosophila": "TTLL4A, TTLL4B", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.9307, "sd_percent_ciliated": 3.6733, "z_score": -0.2518 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.9463, "sd_percent_ciliated": -0.9463, "z_score": -0.9463 } ] }, { "gene": "TTLL5", "ensembl_id": "ENSG00000119685", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 5 [Source:HGNC Symbol,Acc:HGNC:19963]", "omim_id": "612268", "functional_summary": "Recruited by ARL13B and FIP5 (30120249). Higher activity initiating glutamate chains than elongating them. Required for RPGRORF15 function as it seems to be highly selective (27162334). Essential for the correct function of sperm flagella. It might also be responsible for the tubulin polyglutami tion in the microtubule triplets of the centrioles, increasing the centriole stability. Mutations have been identified as cause of recessive reti l dystrophy (24791901), and reduced sperm motility and infertility in humans (28173158).", "localization": "cilia, basal body, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "21262966, 22246503, 23897886, 24791901 ,24791901", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000119685", "synonym": "KIAA0998, STAMP", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttll5", "ortholog_c_elegans": "ttll-5", "ortholog_xenopus": "ttll5", "ortholog_zebrafish": "ttll5", "ortholog_drosophila": "TTLL5", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.41, "sd_percent_ciliated": 1.41, "z_score": 1.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5983, "sd_percent_ciliated": 0.5983, "z_score": 0.5983, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL6", "ensembl_id": "ENSG00000170703", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 6 [Source:HGNC Symbol,Acc:HGNC:26664]", "omim_id": "610849", "functional_summary": "Main axonemal tubulin glutamylase of ciliated cells. Knockdown caused loss of axonemal glutamylation but not basal body glutamylation (21262966). Ciliary entry and distribution of TTLL6 is regulated by CEP41 (22246503). Critical in the regulation of axonemal motility and ciliary beating in ependymal cells, as it cannot be replaced by any of the other glutamylases (23897886).", "localization": "cilia, basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "19427864, 23897886, 25180231", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000170703", "synonym": "FLJ35808", "ortholog_mouse": "Ttll6", "ortholog_zebrafish": "ttll6", "ortholog_drosophila": "TTLL6B", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5907, "sd_percent_ciliated": -2.5907, "z_score": -2.5907, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL7", "ensembl_id": "ENSG00000137941", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 7 [Source:HGNC Symbol,Acc:HGNC:26242]", "omim_id": "618813", "functional_summary": "TTLL7 localize to both basal bodies and cilia(17499049).", "localization": "basal body, cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "1.8586949E7", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000137941", "synonym": "FLJ23033", "ortholog_mouse": "Ttll7", "ortholog_xenopus": "ttll7", "ortholog_zebrafish": "ttll7", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TTLL8", "ensembl_id": "ENSG00000138892", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tubulin tyrosine ligase like 8 [Source:HGNC Symbol,Acc:HGNC:34000]", "omim_id": "619193", "functional_summary": "It may function in initiating glygylation modification by attaching the first glycine to tubulin. Interacts with TTLL10 and is required for TTLL10 efficient tubulin glycylation function (19427864). Redundant function with TTLL3, as both are unique monoglycylating enzymes in mammals. Required for stability and mainte nce of motile ependymal cilia. Absence of TTL3 leads to absence of glycylation on axonemes, destabilising motile ependymal cilia and resulting in ciliary disassembly (23897886, 25180231).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "18586949, 20188560 ,25180231", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": ["Tubulin-tyrosine ligase/Tubulin polyglutamylase", "Tubulin tyrosine ligase-like monoglycylase"], "string_link": "https://string-db.org/network/9606/ENSG00000138892", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ttll8", "ortholog_xenopus": "LOC100490189, LOC101730880, LOC105947023, LOC116410516", "ortholog_zebrafish": "ttll3", "ortholog_drosophila": "TTLL3A, TTLL3B", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.009, "sd_percent_ciliated": 0.009, "z_score": 0.009, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3355, "sd_percent_ciliated": 0.3355, "z_score": 0.3355, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TTLL9", "ensembl_id": "ENSG00000131044", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin tyrosine ligase like 9 [Source:HGNC Symbol,Acc:HGNC:16118]", "omim_id": "619838", "functional_summary": "伪-tubulin glutamylase required for the elongation of the polyglutamate side chains, and for the normal assembly and function of cilia (18586949, 20188560).", "localization": "basal body,cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "24375934, 28154160", "complex_components": {}, "pfam_ids": "PF03133", "domain_descriptions": "Tubulin-tyrosine ligase/Tubulin polyglutamylase", "string_link": "https://string-db.org/network/9606/ENSG00000131044", "synonym": "C20ORF125, DJ310O13.1", "ortholog_mouse": "Ttll9", "ortholog_c_elegans": "ttll-9", "ortholog_xenopus": "ttll9", "ortholog_zebrafish": "ttll9", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.15, "sd_percent_ciliated": 1.15, "z_score": 1.15, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6326, "sd_percent_ciliated": 0.6326, "z_score": 0.6326, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUB", "ensembl_id": "ENSG00000166402", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "TUB bipartite transcription factor [Source:HGNC Symbol,Acc:HGNC:12406]", "omim_id": "601197", "functional_summary": "Mutations have been associated with reti l and cochlear degeneration, as well as obesity (24375934). Function in ciliary GPCR trafficking in a similar way to TULP3 (28154160).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transcription regulation", "reference": "11516662 ,20889716", "complex_components": {}, "pfam_ids": ["PF01167", "PF16322"], "domain_descriptions": ["Tubby", "C-terminal", "Tubby", "N-terminal", "Tubby", "C-terminal", "conserved site", "Tubby-like", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000166402", "synonym": "RD5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tub", "ortholog_c_elegans": "tub-1", "ortholog_xenopus": "tub", "ortholog_zebrafish": "tub", "ortholog_drosophila": "ktub", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.105, "sd_percent_ciliated": 5.8588, "z_score": 0.2539, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.568, "sd_percent_ciliated": 0.568, "z_score": 0.568, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.2025, "sd_percent_ciliated": -4.2025, "z_score": -4.2025, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBA1A", "ensembl_id": "ENSG00000167552", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 1a [Source:HGNC Symbol,Acc:HGNC:20766]", "omim_id": "602529", "functional_summary": "Alfa tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.", "localization": "basal body, cilia, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "11516662 ,26493046", "complex_components": ["C1QBP", "FBL", "PRMT1", "PRMT5", "TUBA1A", "TUBB1", "TUBB2A", "APC", "IQGAP1", "TUBG1", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37A", "RPL39", "RPL4", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS2", "RPS23", "RPS24", "RPS29", "RPS3A", "RPS6", "RPS7", "RPS8", "RPS9", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUFM", "U2AF1", "U2AF2", "YBX1", "TBCD", "TUBB", "TBCB", "TBCE"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Alpha tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167552", "synonym": "B-ALPHA-1, FLJ25113, TUBA3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tuba1a", "ortholog_c_elegans": "mec-12, tba-2, tba-4", "ortholog_xenopus": "LOC100497157, tuba1cl, tuba1cl.3", "ortholog_zebrafish": "tuba1a", "ortholog_drosophila": "αTub84B, αTub84D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 29.8, "sd_percent_ciliated": 29.8, "z_score": 29.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.0982, "sd_percent_ciliated": -8.0982, "z_score": -8.0982, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBA1B", "ensembl_id": "ENSG00000123416", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 1b [Source:HGNC Symbol,Acc:HGNC:18809]", "omim_id": "602530", "functional_summary": "TUBA1B has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,24760594", "complex_components": ["Bop1", "CDK11B", "Cebpz", "Ddx18", "Ddx21", "Ddx24", "Ddx27", "Ddx5", "Ddx56", "DHX15", "Ebna1bp2", "Eef1g", "Fbl", "Fn1", "Ftsj3", "GAS8", "Gnl2", "Gtpbp4", "MND1", "Mrto4", "Mybbp1a", "Ncl", "Nifk", "Nop2", "Nop56", "Nop58", "Pes1", "PIN4", "RBM28", "Rpf2", "RPL10", "RPL10A", "Rpl13", "Rpl13a", "Rpl14", "Rpl15", "Rpl18", "Rpl18a", "Rpl19", "Rpl21", "Rpl26", "Rpl3", "Rpl4", "Rpl5", "Rpl6", "Rpl7", "Rpl7a", "Rpl8", "Rplp0", "Rps3", "Rps3a", "Rps4x", "Rps6", "Rps8", "RPS9", "Rrp1", "Rrs1", "RSL1D1", "TPX2", "TUBA1B", "Tubb5", "Wdr12"], "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Alpha tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000123416", "synonym": "K-ALPHA-1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tuba1b", "ortholog_c_elegans": "mec-12", "ortholog_xenopus": "tuba1b", "ortholog_zebrafish": "tuba1a, tuba1b, tuba2", "ortholog_drosophila": "αTub84B, αTub84D, αTub85E", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 26.4, "sd_percent_ciliated": 26.4, "z_score": 26.4, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -14.128, "sd_percent_ciliated": -14.128, "z_score": -14.128, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBA1C", "ensembl_id": "ENSG00000167553", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 1c [Source:HGNC Symbol,Acc:HGNC:20768]", "functional_summary": "Alfa tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "11516662 ,31951202 *", "complex_components": ["CD4", "LCK", "MYH9", "PTPRC", "PTPRCAP", "TFRC", "TUBA1C", "TUBB", "VIM"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Alpha tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167553", "synonym": "BCM948, MGC10851, MGC14580, TUBA6", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tuba1c", "ortholog_c_elegans": "mec-12", "ortholog_xenopus": "tuba1c", "ortholog_zebrafish": "tuba1b, tuba1c", "ortholog_drosophila": "αTub84B, αTub84D, αTub85E", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.51, "sd_percent_ciliated": 1.51, "z_score": 1.51, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -12.2226, "sd_percent_ciliated": -12.2226, "z_score": -12.2226, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBA3C", "ensembl_id": "ENSG00000198033", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 3c [Source:HGNC Symbol,Acc:HGNC:12408]", "omim_id": "602528", "functional_summary": "TUBA3C has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Alpha tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000198033", "synonym": "BA408E5.3, TUBA2", "ortholog_mouse": "Tuba3a, Tuba3b", "ortholog_c_elegans": "mec-12", "ortholog_zebrafish": "tuba4l", "ortholog_drosophila": "αTub84B, αTub84D, αTub85E", "screens": [ { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1954, "sd_percent_ciliated": -4.1954, "z_score": -4.1954, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBA3D", "ensembl_id": "ENSG00000075886", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 3d [Source:HGNC Symbol,Acc:HGNC:24071]", "omim_id": "617878", "functional_summary": "TUBA3D has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,32616903 *", "complex_components": {}, "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Alpha tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000075886", "synonym": "H2-ALPHA", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tuba3a, Tuba3b", "ortholog_c_elegans": "mec-12", "ortholog_zebrafish": "tuba7l", "ortholog_drosophila": "αTub84B, αTub84D, αTub85E", "screens": {} }, { "gene": "TUBA3E", "ensembl_id": "ENSG00000292120", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 3e [Source:HGNC Symbol,Acc:HGNC:20765]", "omim_id": "619918", "functional_summary": "TUBA3E has localized in primary cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000292120", "ortholog_c_elegans": "mec-12, tba-2, tba-4", "ortholog_zebrafish": "tuba7l", "ortholog_drosophila": "αTub84B", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 5.07, "sd_percent_ciliated": 5.07, "z_score": 5.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.539, "sd_percent_ciliated": 0.539, "z_score": 0.539, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TUBA4A", "ensembl_id": "ENSG00000127824", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin alpha 4a [Source:HGNC Symbol,Acc:HGNC:12407]", "omim_id": "191110", "functional_summary": "Alfa tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.", "localization": "basal body, cilia, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1516662E7", "complex_components": ["STMN1", "TUBA4A", "TUBB1", "ASH2L", "KMT2C", "KMT2D", "NCOA6", "RBBP5", "TUBB"], "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Alpha tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000127824", "synonym": "FLJ30169, H2-ALPHA, TUBA1", "ortholog_mouse": "Tuba4a", "ortholog_c_elegans": "mec-12", "ortholog_xenopus": "tuba4b", "ortholog_zebrafish": "tuba8l2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.2, "sd_percent_ciliated": 1.2, "z_score": 1.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3761, "sd_percent_ciliated": -3.3761, "z_score": -3.3761, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBB", "ensembl_id": "ENSG00000224156", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta class I [Source:HGNC Symbol,Acc:HGNC:20778]", "omim_id": "191130", "functional_summary": "TUBB has localized in basal body.", "localization": "cilia,basal body, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273 ,23604077", "complex_components": ["ABCF2", "CDC5L", "DDB1", "DDX23", "EEF1A1", "EEF1G", "EFTUD2", "HNRNPU", "HSPA5", "MATR3", "MSH2", "PFKL", "PRPF8", "SFPQ", "SNRNP200", "SNW1", "TUBB", "UBR5", "ASH2L", "KMT2C", "KMT2D", "NCOA6", "RBBP5", "TUBA4A", "TBCD", "TUBA1A", "ARL2", "TBCE", "CD4", "LCK", "MYH9", "PTPRC", "PTPRCAP", "TFRC", "TUBA1C", "VIM", "ANG", "TRAF3IP1", "ACTBL2", "ACTL6A", "BRD8", "CREB3L2", "DMAP1", "EP400", "EPC1", "H2AC20", "H2AZ2", "H2BC18", "ING3", "KAT5", "MBTD1", "MEAF6", "MORF4L1", "MORF4L2", "MRGBP", "RUVBL1", "RUVBL2", "TRRAP", "VPS72", "YEATS4"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000224156", "synonym": "M40, MGC16435, OK/SW-CL.56, TUBB5", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tubb5", "ortholog_c_elegans": "ben-1, tbb-1, tbb-4", "ortholog_xenopus": "tubb", "ortholog_zebrafish": "tubb5", "ortholog_drosophila": "βTub56D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 45.1247, "sd_percent_ciliated": 2.1362, "z_score": 0.8621 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.45, "sd_percent_ciliated": 2.45, "z_score": 2.45 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -7.5557, "sd_percent_ciliated": -7.5557, "z_score": -7.5557 } ] }, { "gene": "TUBB1", "ensembl_id": "ENSG00000101162", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 1 class VI [Source:HGNC Symbol,Acc:HGNC:16257]", "omim_id": "612901", "functional_summary": "TUBB1 has localized in basal body.", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["STMN1", "TUBA4A", "TUBB1", "C1QBP", "FBL", "PRMT1", "PRMT5", "TUBA1A", "ACTA2", "ACTG2", "BRIX1", "DDX21", "DHX9", "EBNA1BP2", "EEF1A1", "EEF2", "GNL3", "H1-10", "H1-3", "H2BC14", "HNRNPA1", "HNRNPM", "HNRNPU", "IGF2BP1", "ILF2", "ILF3", "LUC7L2", "LYAR", "MYBBP1A", "NAP1L1", "NCL", "NOLC1", "NOP56", "NOP58", "NPM1", "PWP1", "RBM28", "RPL10", "RPL10A", "RPL11", "RPL12", "RPL13", "RPL13A", "RPL14", "RPL15", "RPL17", "RPL18", "RPL18A", "RPL19", "RPL21", "RPL22", "RPL23", "RPL23A", "RPL24", "RPL26", "RPL27", "RPL27A", "RPL28", "RPL29", "RPL3", "RPL30", "RPL31", "RPL32", "RPL35", "RPL35A", "RPL36", "RPL36A", "RPL37A", "RPL39", "RPL4", "RPL5", "RPL6", "RPL7", "RPL7A", "RPL8", "RPL9", "RPLP0", "RPLP1", "RPLP2", "RPS11", "RPS12", "RPS13", "RPS14", "RPS15", "RPS15A", "RPS16", "RPS17", "RPS18", "RPS2", "RPS23", "RPS24", "RPS29", "RPS3A", "RPS6", "RPS7", "RPS8", "RPS9", "RSL1D1", "SCYL2", "SLC25A5", "SNU13", "SRP14", "SRPK1", "TCOF1", "TOP1", "TUFM", "U2AF1", "U2AF2", "YBX1", "SLPI"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000101162", "synonym": "DJ543J19.4", "ortholog_mouse": "Tubb1", "ortholog_c_elegans": "mec-7", "ortholog_xenopus": "tubb1", "ortholog_zebrafish": "tubb1", "ortholog_drosophila": "βTub97EF", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.2384, "z_score": 0.5469, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 55.1472, "z_score": 2.0764, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.206 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.903, "z_score": 0.903, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.903 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.0663, "z_score": -0.0663, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -0.0663 } ] }, { "gene": "TUBB2A", "ensembl_id": "ENSG00000137267", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 2A class IIa [Source:HGNC Symbol,Acc:HGNC:12412]", "omim_id": "615101", "functional_summary": "Beta tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.", "localization": "basal body,flagella,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.1516662E7", "complex_components": ["TUBA1A", "TUBB2A", "RCC1", "CCT3", "MYH9", "PDLIM5", "TRAF3IP1"], "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000137267", "synonym": "DJ40E16.7, TUBB, TUBB2", "ortholog_mouse": "Tubb2a, Tubb5", "ortholog_c_elegans": "ben-1, tbb-1, tbb-4", "ortholog_xenopus": "tubb, tubb2b", "ortholog_zebrafish": "tubb2, tubb5", "ortholog_drosophila": "βTub56D, βTub85D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.84, "sd_percent_ciliated": 2.84, "z_score": 2.84, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2753, "sd_percent_ciliated": -1.2753, "z_score": -1.2753, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBB2B", "ensembl_id": "ENSG00000137285", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 2B class IIb [Source:HGNC Symbol,Acc:HGNC:30829]", "omim_id": "612850", "functional_summary": "Beta tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.", "localization": "basal body,flagella, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "1.1516662E7", "complex_components": ["RCC1", "TUBB2B", "CCT3", "MYH9", "PDLIM5", "TRAF3IP1"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000137285", "synonym": "BA506K6.1, DKFZP566F223, MGC8685", "ortholog_mouse": "Tubb2b", "ortholog_c_elegans": "tbb-4", "ortholog_xenopus": "tubb2b", "ortholog_zebrafish": "tubb2, tubb2b", "ortholog_drosophila": "βTub56D, βTub85D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.738, "sd_percent_ciliated": 0.738, "z_score": 0.738, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0824, "sd_percent_ciliated": -4.0824, "z_score": -4.0824, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBB3", "ensembl_id": "ENSG00000258947", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 3 class III [Source:HGNC Symbol,Acc:HGNC:20772]", "omim_id": "602661", "functional_summary": "Beta tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.", "localization": "cilia ,basal body,flagella", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "11516662, 29198720", "complex_components": ["SNCA", "TUBB3", "GBP1", "PIM1", "ANG"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin", "conserved site", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ", "C-terminal", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ-like", "C-terminal domain", "Beta tubulin", "autoregulation binding site"], "string_link": "https://string-db.org/network/9606/ENSG00000258947", "synonym": "BETA-4, CFEOM3, CFEOM3A, FEOM3", "ortholog_mouse": "Tubb3", "ortholog_c_elegans": "ben-1, tbb-1, tbb-2", "ortholog_xenopus": "tubb3", "ortholog_drosophila": "βTub60D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6879, "sd_percent_ciliated": -3.6879, "z_score": -3.6879, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBB4A", "ensembl_id": "ENSG00000104833", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 4A class IVa [Source:HGNC Symbol,Acc:HGNC:20774]", "omim_id": "602662", "functional_summary": "Tubb4 protein, Tubb4a and Tubb4b, is localized to cilia in multiple lineages of multi-ciliated cells (MCCs) (38031972).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "38031972 ,33674599", "complex_components": ["MYH9", "TUBB4A", "RUVBL1", "TINF2"], "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain", "Epsilon tubulin"], "string_link": "https://string-db.org/network/9606/ENSG00000104833", "synonym": "BETA-5, DYT4, TUBB4", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tubb4a", "ortholog_c_elegans": "ben-1, tbb-1, tbb-4", "ortholog_xenopus": "tubb4a", "ortholog_zebrafish": "zgc:65894", "ortholog_drosophila": "βTub56D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.134, "sd_percent_ciliated": 0.134, "z_score": 0.134, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5146, "sd_percent_ciliated": -0.5146, "z_score": -0.5146, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBB4B", "ensembl_id": "ENSG00000188229", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 4B class IVb [Source:HGNC Symbol,Acc:HGNC:20771]", "omim_id": "602660", "functional_summary": "Beta tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease of LCA with hearing loss", "localization": "basal body,cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "28906251, 11148142 ,32811879", "complex_components": ["EFNB1", "TUBB4B", "NEK9", "DLGAP4", "ANG"], "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000188229", "synonym": "BETA2, TUBB2C", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tubb4b", "ortholog_c_elegans": "tbb-4", "ortholog_xenopus": "tubb4a", "ortholog_zebrafish": "tubb2b, tubb4b, zgc:55461", "ortholog_drosophila": "βTub56D", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.67, "sd_percent_ciliated": 2.67, "z_score": 2.67, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.557, "sd_percent_ciliated": -4.557, "z_score": -4.557, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBB6", "ensembl_id": "ENSG00000176014", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "tubulin beta 6 class V [Source:HGNC Symbol,Acc:HGNC:20776]", "omim_id": "615103", "functional_summary": "TUBB6 has localized in basal body.", "localization": "cilia,basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["TOMM40", "TUBB6", "TUBG1", "CAPZA2", "PPP6R1", "ANG"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Beta tubulin", "autoregulation binding site", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin/FtsZ-like", "C-terminal domain", "Tubulin", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000176014", "synonym": "HST1601, MGC4083", "ortholog_mouse": "Tubb6", "ortholog_c_elegans": "ben-1, tbb-1, tbb-2", "ortholog_xenopus": "tubb6", "ortholog_zebrafish": "tubb6", "ortholog_drosophila": "βTub60D", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 51.8739, "sd_percent_ciliated": 15.2062, "z_score": 1.6798 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.72, "sd_percent_ciliated": 9.72, "z_score": 9.72 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.732, "sd_percent_ciliated": -0.732, "z_score": -0.732 } ] }, { "gene": "TUBB8", "ensembl_id": "ENSG00000261456", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 8 class VIII [Source:HGNC Symbol,Acc:HGNC:20773]", "omim_id": "616768", "functional_summary": "TUBB8 has localized in basal body.", "localization": "cilia,basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Reproduction & sperm, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ANG", "TUBB8"], "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000261456", "synonym": "BA631M21.2", "ortholog_drosophila": "βTub85D", "screens": {} }, { "gene": "TUBB8B", "ensembl_id": "ENSG00000173213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin beta 8B [Source:HGNC Symbol,Acc:HGNC:24983]", "functional_summary": "TUBB8B has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Beta tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Beta tubulin", "autoregulation binding site", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000173213", "synonym": "TUBB8P12", "ortholog_drosophila": "βTub85D", "screens": {} }, { "gene": "TUBE1", "ensembl_id": "ENSG00000074935", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin epsilon 1 [Source:HGNC Symbol,Acc:HGNC:20775]", "omim_id": "607345", "functional_summary": "Interacts with delta-tubulin to form the triplet or to stabilize them against depolymerization (28906251). Function in the centriole lumen and on the cytoplasmic side is essential for the centriole-to- centrosome conversion. Depletion of TUBE1 affects biogenesis and reduces CEP44 recruitment to centrioles (11148142).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "29514869, 21725292", "complex_components": {}, "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Tubulin/FtsZ", "GTPase domain", "Epsilon tubulin", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000074935", "synonym": "DJ142L7.2, FLJ22589, TUBE", "ortholog_mouse": "Tube1", "ortholog_xenopus": "tube1", "ortholog_zebrafish": "tube1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 42.3303, "sd_percent_ciliated": 5.5433, "z_score": 0.5235, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 22.2, "sd_percent_ciliated": 22.2, "z_score": 22.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3862, "sd_percent_ciliated": -6.3862, "z_score": -6.3862, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBG1", "ensembl_id": "ENSG00000131462", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma 1 [Source:HGNC Symbol,Acc:HGNC:12417]", "omim_id": "191135", "functional_summary": "TUBG1 has localized in flagella.", "localization": "flagella, Centrosome, Cytosol, Microtubules, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": ["APC", "IQGAP1", "TUBA1A", "TUBG1", "TUBGCP2", "TUBGCP3", "TUBGCP4", "TUBGCP5", "TUBGCP6", "TUBB6"], "pfam_ids": ["PF03953", "PF00091"], "domain_descriptions": ["Tubulin", "Gamma tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000131462", "synonym": "TUBG, TUBGCP1", "ortholog_mouse": "Tubg1", "ortholog_c_elegans": "tbg-1", "ortholog_xenopus": "tubg1", "ortholog_zebrafish": "tubg1", "ortholog_drosophila": "γTub23C", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.4028, "z_score": 0.5982, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 56.6736, "z_score": 2.2613, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.0693 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.34, "z_score": 3.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.34 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.1253, "z_score": -6.1253, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.1253 } ] }, { "gene": "TUBG2", "ensembl_id": "ENSG00000037042", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma 2 [Source:HGNC Symbol,Acc:HGNC:12419]", "omim_id": "605785", "functional_summary": "TUBG2 has localized in flagella.", "localization": "flagella, Centrosome, Cytosol, Microtubules", "functional_category": "Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": ["PF00091", "PF03953"], "domain_descriptions": ["Tubulin", "Gamma tubulin", "Tubulin/FtsZ", "GTPase domain", "Tubulin/FtsZ", "C-terminal", "Tubulin", "conserved site", "Tubulin/FtsZ", "2-layer sandwich domain", "Tubulin", "C-terminal", "Tubulin/FtsZ", "GTPase domain superfamily", "Tubulin/FtsZ-like", "C-terminal domain", "Delta tubulin"], "string_link": "https://string-db.org/network/9606/ENSG00000037042", "ortholog_mouse": "Tubg2", "ortholog_c_elegans": "tbg-1", "ortholog_xenopus": "tubg1", "ortholog_zebrafish": "tubg1", "ortholog_drosophila": "γTub37C", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.38, "sd_percent_ciliated": 3.0447, "z_score": -0.8032, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.011, "sd_percent_ciliated": 0.011, "z_score": 0.011, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1026, "sd_percent_ciliated": -3.1026, "z_score": -3.1026, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBGCP2", "ensembl_id": "ENSG00000130640", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma complex component 2 [Source:HGNC Symbol,Acc:HGNC:18599]", "omim_id": "617817", "functional_summary": "Also known as GCP2. Gamma tubulin complex protein. These type of complexes of gamma-tubulin are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869). Component of gamma- tubulin small complexes that then associate with associate with GCP4, GCP5 and GCP6 to form ring complexes (21725292).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "29514869, 21725292 ,28560031", "complex_components": ["TUBG1", "TUBGCP2", "TUBGCP3", "TUBGCP4", "TUBGCP5", "TUBGCP6"], "pfam_ids": ["PF04130", "PF17681"], "domain_descriptions": ["Gamma-tubulin complex component protein", "Gamma tubulin complex component", "C-terminal", "Gamma tubulin complex component protein", "N-terminal", "Gamma-tubulin complex component", "C-terminal domain superfamily", "Zinc finger C2H2-type"], "string_link": "https://string-db.org/network/9606/ENSG00000130640", "synonym": "ALP4, GCP2, HGCP2, SPBC97, SPC97P", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tubgcp2", "ortholog_xenopus": "tubgcp2", "ortholog_zebrafish": "tubgcp2", "ortholog_drosophila": "Grip84, t-Grip84", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 50.9501, "sd_percent_ciliated": 3.1974, "z_score": 1.5679 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.64, "sd_percent_ciliated": 2.64, "z_score": 2.64 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.2803, "sd_percent_ciliated": -4.2803, "z_score": -4.2803 } ] }, { "gene": "TUBGCP3", "ensembl_id": "ENSG00000126216", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma complex component 3 [Source:HGNC Symbol,Acc:HGNC:18598]", "omim_id": "617818", "functional_summary": "Also known as GCP3. Gamma tubulin complex protein. These type of complexes of gamma-tubulin are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869). Component of gamma- tubulin small complexes that then associate with associate with GCP4, GCP5 and GCP6 to form ring complexes (21725292).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "29514869, 21725292, 31209365, 32317396", "complex_components": ["TUBG1", "TUBGCP2", "TUBGCP3", "TUBGCP4", "TUBGCP5", "TUBGCP6"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000126216", "synonym": "GCP3, SPBC98, SPC98P", "ortholog_mouse": "Tubgcp3", "ortholog_xenopus": "tubgcp3", "ortholog_zebrafish": "tubgcp3", "ortholog_drosophila": "Grip91", "screens": {} }, { "gene": "TUBGCP4", "ensembl_id": "ENSG00000137822", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma complex component 4 [Source:HGNC Symbol,Acc:HGNC:16691]", "omim_id": "609610", "functional_summary": "Also known as GCP4. Required for the initial assembly of gamma-tubulin ring complexes and for their stabilization after assembly. These complexes are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869, 32317396). Associates with gamma-tubulin small complexes, GCP5 and GCP6 (21725292). Mutations have been identified in patients with autosomal- recessive microcephaly and chorioretinopathy. Role in mainte nce of reti l homeostasis, through participating in assembly of gamma- TuRC (31209365).", "localization": "basal body, Centrosome, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "29514869, 32317396, 21725292 ,26224545", "complex_components": ["TUBG1", "TUBGCP2", "TUBGCP3", "TUBGCP4", "TUBGCP5", "TUBGCP6"], "pfam_ids": ["PF04130", "PF17681"], "domain_descriptions": ["Gamma-tubulin complex component protein", "Gamma tubulin complex component", "C-terminal", "Gamma tubulin complex component protein", "N-terminal", "Gamma-tubulin complex component", "C-terminal domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000137822", "synonym": "76P, FLJ14797, GCP4", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tubgcp4", "ortholog_xenopus": "tubgcp4", "ortholog_zebrafish": "tubgcp4", "ortholog_drosophila": "Grip75", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.33, "sd_percent_ciliated": 7.33, "z_score": 7.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1557, "sd_percent_ciliated": -3.1557, "z_score": -3.1557, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBGCP5", "ensembl_id": "ENSG00000276856", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma complex component 5 [Source:HGNC Symbol,Acc:HGNC:18600]", "omim_id": "608147", "functional_summary": "Also known as GCP5. Required for the initial assembly of gamma-tubulin ring complexes and for their stabilization after assembly. These complexes are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869, 32317396). Associates with gamma-tubulin small complexes, GCP4 and GCP6 (21725292).", "localization": "basal body, cilia , transition zone, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Transition zone", "reference": "29514869, 32317396, 21725292", "complex_components": ["TUBG1", "TUBGCP2", "TUBGCP3", "TUBGCP4", "TUBGCP5", "TUBGCP6"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276856", "synonym": "GCP5, KIAA1899", "ortholog_mouse": "Tubgcp5", "ortholog_xenopus": "tubgcp5", "ortholog_zebrafish": "tubgcp5", "ortholog_drosophila": "Grip128", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 36.2203, "sd_percent_ciliated": 9.7283, "z_score": -0.2167, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.7, "sd_percent_ciliated": 1.7, "z_score": 1.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.0201, "sd_percent_ciliated": 2.0201, "z_score": 2.0201, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TUBGCP6", "ensembl_id": "ENSG00000128159", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tubulin gamma complex component 6 [Source:HGNC Symbol,Acc:HGNC:18127]", "omim_id": "610053", "functional_summary": "Also known as GCP6. Required for the initial assembly of gamma-tubulin ring complexes and for their stabilization after assembly. These complexes are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869, 32317396). Associates with gamma-tubulin small complexes, GCP4 and GCP5 (21725292).", "localization": "cilia, Centrosome, Cytosol, Microtubules", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "33187986, 25074776, 9462750", "complex_components": ["TUBG1", "TUBGCP2", "TUBGCP3", "TUBGCP4", "TUBGCP5", "TUBGCP6"], "pfam_ids": ["PF04130", "PF17681", "PF19340"], "domain_descriptions": ["Gamma-tubulin complex component protein", "Gamma tubulin complex component", "C-terminal", "Gamma-tubulin complex component", "C-terminal domain superfamily", "Gamma tubulin complex component protein", "N-terminal", "Gamma-tubulin complex component 6", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000128159", "synonym": "DJ402G11.6, GCP6, KIAA1669", "ortholog_mouse": "Tubgcp6", "ortholog_xenopus": "tubgcp6", "ortholog_zebrafish": "tubgcp6", "ortholog_drosophila": "Grip163", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.2021, "sd_percent_ciliated": 1.1572, "z_score": -0.9459, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0923, "sd_percent_ciliated": 0.0923, "z_score": 0.0923, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "TULP1", "ensembl_id": "ENSG00000112041", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "TUB like protein 1 [Source:HGNC Symbol,Acc:HGNC:12423]", "omim_id": "602280", "functional_summary": "Role in intracellular transport, cell differentiation, sig ling, and motility. Mutations result in progressive photoreceptor degeneration in mice and retinitis pigmentosa in humans (33187986, 25074776, 9462750).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "33187986, 20889716, 28154160, 19286674, 30799240, 30583862, 22605927, 15024725, 17962469 ,15024725, 17962469; 22605927", "complex_components": {}, "pfam_ids": "PF01167", "domain_descriptions": ["Tubby", "C-terminal", "Tubby", "C-terminal", "conserved site", "Tubby-like", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000112041", "synonym": "LCA15, RP14, TUBL1", "ciliopathy": "Leber Congenital Amaurosis; Retinitis Pigmentosa", "ciliopathy_classification": "Primary Ciliopathies; Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Tulp1", "ortholog_c_elegans": "tub-1", "ortholog_xenopus": "tulp1", "ortholog_zebrafish": "tulp1a, tulp1b", "ortholog_drosophila": "ktub", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 48.2397, "sd_percent_ciliated": 9.3476, "z_score": 1.2395, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.345, "sd_percent_ciliated": 0.345, "z_score": 0.345, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -8.4625, "sd_percent_ciliated": -8.4625, "z_score": -8.4625, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TULP3", "ensembl_id": "ENSG00000078246", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "TUB like protein 3 [Source:HGNC Symbol,Acc:HGNC:12425]", "omim_id": "604730", "functional_summary": "Role in intracellular transport, cell differentiation, sig ling, and motility (33187986). Associates with IFT-A in a complex to regulate trafficking and localisation of G protein-coupled receptors into cilia. Negative regulator of Hedgehog sig ling (20889716). Adapter for ciliary trafficking of membrane cargo, regulates PC1/2 complex trafficking (28154160). Required for proper Shh-dependent limb patterning, as it inhibits Gli2 activity (19286674). Essential for trafficking of Arl13b and INPP5E into cilia. Loss of function causes ciliopathy-associated polycystic kidney disease, downregulates the formation of cilia and their length (30799240, 30583862).", "localization": "basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "27894351, 30851085, 31411728", "complex_components": ["IFT122", "IFT140", "TULP3", "WDR19", "IFT43", "TTC21B", "WDR35"], "pfam_ids": ["PF01167", "PF16322"], "domain_descriptions": ["Tubby", "C-terminal", "Tubby", "C-terminal", "conserved site", "Tubby-like", "C-terminal", "Tubby", "N-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000078246", "synonym": "TUBL3", "ortholog_mouse": "Tulp3", "ortholog_c_elegans": "tub-1", "ortholog_xenopus": "tulp3", "ortholog_zebrafish": "tulp3", "ortholog_drosophila": "ktub", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.973, "z_score": -1.3926, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 21.3022, "z_score": -2.0242, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.8771 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 22.8, "z_score": 22.8, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 22.8 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0041, "z_score": -6.0041, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -6.0041 } ] }, { "gene": "TUSC3", "ensembl_id": "ENSG00000104723", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "tumor suppressor candidate 3 [Source:HGNC Symbol;Acc:HGNC:30242]", "omim_id": "601385", "functional_summary": "Rare variants were present in multiple genes distinct from those with BA-associated common variants in most BA cases. AFAP1 and TUSC3 knockdown blocked ciliogenesis in mouse tracheal cells. Inhibition of ciliogenesis caused biliary dysgenesis in zebrafish. AFAP1 and TUSC3 were expressed in fetal liver organoids, as well as fetal and BA livers, but not in normal or disease-control livers. Integrative analysis of BA-associated variants and liver transcripts revealed abnormal vasculogenesis and epithelial tube formation, explaining portal vein anomalies that co-exist with BA(37572794).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "3.7572794E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000104723", "synonym": "MAGT2; MGC13453; MRT22; MRT7; N33; OST3A; SLC58A2", "ortholog_mouse": "Tusc3", "ortholog_c_elegans": "ZK686.3", "ortholog_xenopus": "tusc3", "ortholog_zebrafish": "tusc3", "ortholog_drosophila": "Ostγ", "screens": [] }, { "gene": "TWIST1", "ensembl_id": "ENSG00000122691", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "twist family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:12428]", "omim_id": "601622", "functional_summary": "Twist1 knockout resulted in reduced ciliary length and number.", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2025.10.03.680308", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000122691", "synonym": "ACS3, BHLHA38, BPES2, BPES3, CRS, CRS1, H-TWIST, SCS, TWIST", "ortholog_mouse": "Twist1", "ortholog_c_elegans": "hlh-8", "ortholog_xenopus": "twist1", "ortholog_zebrafish": "twist1a, twist1b", "ortholog_drosophila": "twi", "screens": [] }, { "gene": "TXNDC15", "ensembl_id": "ENSG00000113621", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "thioredoxin domain containing 15 [Source:HGNC Symbol,Acc:HGNC:20652]", "omim_id": "617778", "functional_summary": "Mutated in patients with Meckel-Gruber syndrome (27894351, 30851085, 31411728). Loss of TXNDC15 prevented correct localization of the TMEM67 ciliary receptor to the transition zone (27894351).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "29742019, 27894351, 30138887, 39304719 ,39304719; 27894351, 30138887; 27894351", "complex_components": {}, "pfam_ids": "PF00085", "domain_descriptions": ["Thioredoxin domain", "Thioredoxin-like superfamily", "Thioredoxin domain-containing protein 15"], "string_link": "https://string-db.org/network/9606/ENSG00000113621", "synonym": "2310047H23RIK, C5ORF14, FLJ22625, TMX5", "ciliopathy": "Joubert Syndrome; Meckel–Gruber Syndrome", "ciliopathy_classification": "Primary Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Txndc15", "ortholog_c_elegans": "txdc-15", "ortholog_xenopus": "txndc15", "ortholog_zebrafish": "txndc15", "ortholog_drosophila": "bug", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 27.5, "sd_percent_ciliated": 27.5, "z_score": 27.5, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.3107, "sd_percent_ciliated": -6.3107, "z_score": -6.3107, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "TYSND1", "ensembl_id": "ENSG00000156521", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "trypsin like peroxisomal matrix peptidase 1 [Source:HGNC Symbol;Acc:HGNC:28531]", "omim_id": "611017", "functional_summary": "Disruption of additional peroxisomal β-oxidation-related genes, including ABCD1, ACOX1, TYSND1, and HSD17B4, markedly impaired primary ciliogenesis under serum deprivation conditions(40102401).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "4.0102401E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156521", "synonym": "MGC34695; NET41", "ortholog_mouse": "Tysnd1", "ortholog_xenopus": "tysnd1", "ortholog_zebrafish": "tysnd1", "ortholog_drosophila": "CG3589", "screens": [] }, { "gene": "UBAP1L", "ensembl_id": "ENSG00000246922", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin associated protein 1 like [Source:HGNC Symbol,Acc:HGNC:40028]", "functional_summary": "Mutations in the UBAP1L gene cause Cone-Rod Dystrophy (PMID: 38293907).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "38293907 ,38293907", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000246922", "ciliopathy": "Cone-Rod Dystrophy", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ubap1l", "ortholog_xenopus": "ubap1l", "ortholog_zebrafish": "ubap1la, ubap1lb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6871, "sd_percent_ciliated": -3.6871, "z_score": -3.6871, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBE2A", "ensembl_id": "ENSG00000077721", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin conjugating enzyme E2 A [Source:HGNC Symbol,Acc:HGNC:12472]", "omim_id": "312180", "functional_summary": "UBE2A localized to flagella (25613900)", "localization": "flagella, Cytosol, Nucleus", "reference": "2.56139E7", "complex_components": ["KCMF1", "UBE2A", "UBR4"], "pfam_ids": "PF00179", "domain_descriptions": ["Ubiquitin-conjugating enzyme E2", "catalytic core domain", "Ubiquitin-conjugating enzyme/RWD-like", "Ubiquitin-conjugating enzyme", "active site", "Ubiquitin-conjugating enzyme"], "string_link": "https://string-db.org/network/9606/ENSG00000077721", "synonym": "HHR6A, HR6A, RAD6A, UBC2", "ortholog_mouse": "Ube2a", "ortholog_c_elegans": "ubc-1", "ortholog_xenopus": "ube2a", "ortholog_zebrafish": "ube2a, ube2al", "ortholog_drosophila": "Ubc6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 33.802, "sd_percent_ciliated": 5.5091, "z_score": -0.5097, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.2, "sd_percent_ciliated": 13.2, "z_score": 13.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9848, "sd_percent_ciliated": -2.9848, "z_score": -2.9848, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBE2B", "ensembl_id": "ENSG00000119048", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin conjugating enzyme E2 B [Source:HGNC Symbol,Acc:HGNC:12473]", "omim_id": "179095", "functional_summary": "UBE2B localized to flagella (25613900)", "localization": "flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion", "reference": "25613900 ,31235600", "complex_components": {}, "pfam_ids": "PF00179", "domain_descriptions": ["Ubiquitin-conjugating enzyme E2", "catalytic core domain", "Ubiquitin-conjugating enzyme/RWD-like", "Ubiquitin-conjugating enzyme", "Ubiquitin-conjugating enzyme", "active site"], "string_link": "https://string-db.org/network/9606/ENSG00000119048", "synonym": "HHR6B, RAD6B, UBC2", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ube2b", "ortholog_c_elegans": "ubc-1", "ortholog_xenopus": "ube2b", "ortholog_zebrafish": "ube2b", "ortholog_drosophila": "Ubc6", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.617, "sd_percent_ciliated": 0.3339, "z_score": -0.0475, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.4301, "sd_percent_ciliated": -3.4301, "z_score": -3.4301, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBE2E1", "ensembl_id": "ENSG00000170142", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "ubiquitin conjugating enzyme E2 E1 [Source:HGNC Symbol,Acc:HGNC:12477]", "omim_id": "602916", "functional_summary": "Correct 尾-catenin levels are tightly regulated at the primary cilium by a ciliary-specific E2 (UBE2E1) and a regulatory substrate-adaptor (MKS1)(35170427).", "localization": "basal body, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "3.5170427E7", "complex_components": ["RNF20", "RNF40", "UBE2E1"], "pfam_ids": "PF00179", "domain_descriptions": ["Ubiquitin-conjugating enzyme E2", "catalytic core domain", "Ubiquitin-conjugating enzyme/RWD-like", "Ubiquitin-conjugating enzyme", "active site"], "string_link": "https://string-db.org/network/9606/ENSG00000170142", "synonym": "UBCH6", "ortholog_mouse": "Ube2e1", "ortholog_xenopus": "ube2e1", "ortholog_zebrafish": "ube2e1, ube2e2", "ortholog_drosophila": "Ubc2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 47.898, "sd_percent_ciliated": 3.3634, "z_score": 1.1981, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.17, "sd_percent_ciliated": 1.17, "z_score": 1.17, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.1325, "sd_percent_ciliated": -4.1325, "z_score": -4.1325, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBE2L3", "ensembl_id": "ENSG00000185651", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin conjugating enzyme E2 L3 [Source:HGNC Symbol,Acc:HGNC:12488]", "omim_id": "603721", "functional_summary": "Ube2l3 must be localized to cilia to function in regulating the ciliary levels of Smo (34161574).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "3.4161574E7", "complex_components": ["BARD1", "BRCA1", "UBE2L3", "ITCH", "NDFIP1"], "pfam_ids": "PF00179", "domain_descriptions": ["Ubiquitin-conjugating enzyme E2", "catalytic core domain", "Ubiquitin-conjugating enzyme/RWD-like", "Ubiquitin-conjugating enzyme", "active site", "Ubiquitin-conjugating enzyme"], "string_link": "https://string-db.org/network/9606/ENSG00000185651", "synonym": "UBCH7", "ortholog_mouse": "Ube2l3", "ortholog_c_elegans": "ubc-18", "ortholog_xenopus": "ube2l3", "ortholog_zebrafish": "ube2l3a, ube2l3b", "ortholog_drosophila": "Ubc10", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 29.3348, "sd_percent_ciliated": 5.7871, "z_score": -1.051, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 36.2, "sd_percent_ciliated": 36.2, "z_score": 36.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.4636, "sd_percent_ciliated": -4.4636, "z_score": -4.4636, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBE2L5", "ensembl_id": "ENSG00000236444", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin conjugating enzyme E2 L5 [Source:HGNC Symbol,Acc:HGNC:13477]", "functional_summary": "UBE2L5 has localized in cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00179", "domain_descriptions": ["Ubiquitin-conjugating enzyme E2", "catalytic core domain", "Ubiquitin-conjugating enzyme/RWD-like", "Ubiquitin-conjugating enzyme", "active site", "Ubiquitin-conjugating enzyme"], "string_link": "https://string-db.org/network/9606/ENSG00000236444", "synonym": "UBE2L5P", "ortholog_mouse": "Ube2l3", "ortholog_c_elegans": "ubc-18", "ortholog_xenopus": "ube2l3", "ortholog_zebrafish": "ube2l3a", "ortholog_drosophila": "Ubc10", "screens": {} }, { "gene": "UBL3", "ensembl_id": "ENSG00000122042", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin like 3 [Source:HGNC Symbol,Acc:HGNC:12504]", "omim_id": "604711", "functional_summary": "NIM1K and UBL3 localize inside the cilium in a prenylation-dependent manner and UBL3 also localizes in vesicle-like structures around the base of the cilium. Through affinity proteomics of UBL3, it confirmed its strong interaction with PDE6D and its association with proteins that regulate small extracellular vesicles (sEVs) and ciliogenesis (36672247).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.6672247E7", "complex_components": ["PDE6D", "UBL3"], "pfam_ids": "PF13881", "domain_descriptions": ["Ubiquitin-like domain", "Membrane-anchored ubiquitin-fold protein", "Ubiquitin-like domain superfamily", "UBL3-like", "ubiquitin domain", "UBL3-like", "UBL3-like", "ubiquitin-like domain", "metazoan"], "string_link": "https://string-db.org/network/9606/ENSG00000122042", "synonym": "DKFZP434K151, FLJ32018, HCG-1, PNSC1", "ortholog_mouse": "Ubl3", "ortholog_c_elegans": "C46F11.6", "ortholog_xenopus": "ubl3", "ortholog_zebrafish": "ubl3a, ubl3b", "ortholog_drosophila": "UBL3", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -5.1491, "z_score": -2.072, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 9.9313, "z_score": -3.4018, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.1665 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.53, "z_score": 1.53, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.53 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0624, "z_score": -3.0624, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.0624 } ] }, { "gene": "UBR4", "ensembl_id": "ENSG00000127481", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin protein ligase E3 component n-recognin 4 [Source:HGNC Symbol,Acc:HGNC:30313]", "omim_id": "609890", "functional_summary": "UBR4 has localized in basal body,flagella.", "localization": "basal body,flagella, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://www.proteinatlas.org/", "complex_components": ["KCMF1", "UBE2A", "UBR4"], "pfam_ids": ["PF13764", "PF19423", "PF24079", "PF02207"], "domain_descriptions": ["E3 ubiquitin ligase UBR4", "C-terminal", "E3 ubiquitin ligase UBR4-like", "Zinc finger", "UBR-type", "Armadillo-type fold", "WD40-repeat-containing domain superfamily", "E3 ubiquitin-protein ligase UBR4", "N-terminal", "E3 ubiquitin-protein ligase UBR4-like", "UBR-box", "E3 ubiquitin-protein ligase UBR4-like domain"], "string_link": "https://string-db.org/network/9606/ENSG00000127481", "synonym": "KIAA0462, KIAA1307, P600, RBAF600, ZUBR1", "ortholog_mouse": "Ubr4", "ortholog_c_elegans": "ubr-4", "ortholog_xenopus": "ubr4", "ortholog_zebrafish": "ubr4", "ortholog_drosophila": "poe", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13, "sd_percent_ciliated": 13, "z_score": 13, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "UBR5", "ensembl_id": "ENSG00000104517", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "ubiquitin protein ligase E3 component n-recognin 5 [Source:HGNC Symbol,Acc:HGNC:16806]", "omim_id": "608413", "functional_summary": "Positive regulator of ciliogenesis. Ubiquitylates CSPP1 and is required for cytoplasmic organisation of CSPP1-associated centriolar satellites in centrosomal periphery. Regulates ciliogenesis via mainte nce of centriolar satellite stability and CSPP1 localisation (29742019).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6389662E7", "complex_components": ["ABCF2", "CDC5L", "DDB1", "DDX23", "EEF1A1", "EEF1G", "EFTUD2", "HNRNPU", "HSPA5", "MATR3", "MSH2", "PFKL", "PRPF8", "SFPQ", "SNRNP200", "SNW1", "TUBB", "UBR5", "DCAF1", "DYRK2", "CEP78"], "pfam_ids": ["PF11547", "PF00658", "PF00632"], "domain_descriptions": ["HECT domain", "Polyadenylate-binding protein/Hyperplastic disc protein", "C-terminal", "Zinc finger", "UBR-type", "Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II", "E3 ubiquitin-protein ligase UBR5", "ubiquitin-associated domain", "HECT", "E3 ligase catalytic domain", "PABC (PABP) domain", "E3 ubiquitin-protein ligase UBR5", "UBR-box"], "string_link": "https://string-db.org/network/9606/ENSG00000104517", "synonym": "DD5, EDD, EDD1, HYD, KIAA0896", "ortholog_mouse": "Ubr5", "ortholog_c_elegans": "ubr-5", "ortholog_xenopus": "ubr5", "ortholog_zebrafish": "ubr5", "ortholog_drosophila": "hyd", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 13.8, "sd_percent_ciliated": 13.8, "z_score": 13.8, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.5233, "sd_percent_ciliated": -6.5233, "z_score": -6.5233, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBXN10", "ensembl_id": "ENSG00000162543", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UBX domain protein 10 [Source:HGNC Symbol,Acc:HGNC:26354]", "functional_summary": "Facilitates recruitment of VCP to IFT-B. Interaction with VCP is required for UBXN10 ciliary localisation. Depletion of UBXN10 in zebrafish causes defects in left-right asymmetry (26389662).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "21746835, 27445138", "complex_components": {}, "pfam_ids": "PF00789", "domain_descriptions": ["UBX domain", "Ubiquitin-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000162543", "synonym": "FLJ25429, UBXD3", "ortholog_mouse": "Ubxn10", "ortholog_xenopus": "ubxn10", "ortholog_zebrafish": "ubxn10", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.196, "sd_percent_ciliated": 0.196, "z_score": 0.196, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.756, "sd_percent_ciliated": 0.756, "z_score": 0.756, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UBXN11", "ensembl_id": "ENSG00000158062", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UBX domain protein 11 [Source:HGNC Symbol,Acc:HGNC:30600]", "omim_id": "609151", "functional_summary": "UBXN11 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000158062", "synonym": "SOC, SOCI, UBXD5", "ortholog_mouse": "Ubxn11", "ortholog_xenopus": "ubxn11", "ortholog_zebrafish": "ubxn11", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.34, "sd_percent_ciliated": 3.34, "z_score": 3.34, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.1189, "sd_percent_ciliated": -2.1189, "z_score": -2.1189, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UFSP2", "ensembl_id": "ENSG00000109775", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UFM1 specific peptidase 2 [Source:HGNC Symbol,Acc:HGNC:25640]", "omim_id": "611482", "functional_summary": "A subset of these receptors, such as ODR-10, requires the odr-4 and odr-8 genes to be appropriately localized to sensory cilia (24603482)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.4603482E7", "complex_components": {}, "pfam_ids": ["PF07910", "PF20908"], "domain_descriptions": ["UfSP1/2/DUB", "catalytic domain", "Ubiquitin-fold modifier 1 specific protease 2-like", "N-terminal", "Papain-like cysteine peptidase superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000109775", "synonym": "C4ORF20, FLJ11200", "ortholog_mouse": "Ufsp2", "ortholog_c_elegans": "odr-8", "ortholog_xenopus": "ufsp2", "ortholog_zebrafish": "ufsp2", "ortholog_drosophila": "Ufsp2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 11.3, "sd_percent_ciliated": 11.3, "z_score": 11.3, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.6623, "sd_percent_ciliated": -0.6623, "z_score": -0.6623, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UGGT1", "ensembl_id": "ENSG00000136731", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UDP-glucose glycoprotein glucosyltransferase 1 [Source:HGNC Symbol,Acc:HGNC:15663]", "omim_id": "605897", "functional_summary": "UGGT1 localized at cilia", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF18400", "PF06427", "PF18403", "PF18401", "PF18404", "PF18402"], "domain_descriptions": ["UDP-glucose:Glycoprotein Glucosyltransferase", "Nucleotide-diphospho-sugar transferases", "Glucosyltransferase 24", "catalytic domain", "UDP-glucose:glycoprotein glucosyltransferase", "thioredoxin-like domain 4", "UGGT", "thioredoxin-like domain 3", "UGGT", "thioredoxin-like domain 1", "UGGT", "thioredoxin-like domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000136731", "synonym": "HUGT1, UGCGL1", "ortholog_mouse": "Uggt1", "ortholog_c_elegans": "uggt-1, uggt-2", "ortholog_xenopus": "uggt1", "ortholog_zebrafish": "uggt1", "ortholog_drosophila": "Uggt", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.42, "sd_percent_ciliated": 2.42, "z_score": 2.42, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3597, "sd_percent_ciliated": 0.3597, "z_score": 0.3597, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UGT2A1", "ensembl_id": "ENSG00000173610", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UDP glucuronosyltransferase family 2 member A1 complex locus [Source:HGNC Symbol,Acc:HGNC:12542]", "omim_id": "604716", "functional_summary": "Treatment of the OE with beta-glucuronidase, an enzyme which counterbalance the UGTs activity, increased the response to eugenol which is a strong odorant UGT substrate(33765098).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.3765098E7", "complex_components": {}, "pfam_ids": "PF00201", "domain_descriptions": ["UDP-glucuronosyl/UDP-glucosyltransferase", "UDP-glycosyltransferase family", "conserved site", "UDP-glycosyltransferase"], "string_link": "https://string-db.org/network/9606/ENSG00000173610", "ortholog_mouse": "Ugt2a1", "ortholog_c_elegans": "ugt-1, ugt-11, ugt-13, ugt-14, ugt-16, ugt-2, ugt-32, ugt-4, ugt-44, ugt-46, ugt-5, ugt-58, ugt-61, ugt-62, ugt-8", "ortholog_xenopus": "ugt2a1", "ortholog_zebrafish": "ugt2a1, ugt2a5, ugt2b1, ugt2b3, ugt2b6", "ortholog_drosophila": "Ugt301D1, Ugt302C1, Ugt302E1, Ugt302K1, Ugt303A1, Ugt303B1, Ugt303B3, Ugt304A1, Ugt316A1, Ugt35A1, Ugt35B1, Ugt35C1, Ugt35D1, Ugt35E1, Ugt35E2, Ugt36A1, Ugt36D1, Ugt36E1, Ugt37A3, Ugt37D1, Ugt49B1, Ugt49B2, Ugt49C1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.7018, "sd_percent_ciliated": 5.6392, "z_score": 0.2051 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.47, "sd_percent_ciliated": 3.47, "z_score": 3.47 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.032, "sd_percent_ciliated": -3.032, "z_score": -3.032 } ] }, { "gene": "ULK4", "ensembl_id": "ENSG00000168038", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "unc-51 like kinase 4 [Source:HGNC Symbol,Acc:HGNC:15784]", "omim_id": "617010", "functional_summary": "Hydrocephalus due to dysfunctio l motile cilia in KO mouse, suggesting it may be involved in the development and/or function of motile cilia in the respiratory tract and ependyma (21746835). Essential for Ciliogenesis and CSF Flow. Modulates expression of the master regulator of ciliogenesis, Foxj1,its target genes and other ciliogenesis molecules, influencing axoneme structure, basal body alignment, cilia number and beating. Implicated in ciliopathy-related disorders (27445138).", "localization": "basal body , cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "15029248, 20172860 ,27445138", "complex_components": {}, "pfam_ids": ["PF00069", "PF23606"], "domain_descriptions": ["Protein kinase domain", "Protein kinase-like domain superfamily", "Armadillo-like helical", "Armadillo-type fold", "Serine/threonine-protein kinase ULK4", "Serine/threonine-protein kinase ULK4/RUNKEL", "HEAT repeats"], "string_link": "https://string-db.org/network/9606/ENSG00000168038", "synonym": "FAM7C1, FLJ20574, REC01035", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Ulk4", "ortholog_xenopus": "ulk4", "ortholog_zebrafish": "ulk4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 43.746, "sd_percent_ciliated": 12.6553, "z_score": 0.695, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.46, "sd_percent_ciliated": 2.46, "z_score": 2.46, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "UMOD", "ensembl_id": "ENSG00000169344", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "uromodulin [Source:HGNC Symbol,Acc:HGNC:12559]", "omim_id": "191845", "functional_summary": "Mutations are responsible for medullary cystic kidney disease type 2 (15029248), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. Expressed in re l primary cilia. UMOD mutations result in decreased ciliary uromodulin expression and delayed ER to Golgi trafficking (20172860 ).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Protein processing & maturation, Cell migration & adhesion, Ciliary membrane", "reference": "16464467, 12588794", "complex_components": {}, "pfam_ids": ["PF23344", "PF12947", "PF00100", "PF23283", "PF07645"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "EGF-like domain", "Zona pellucida domain", "EGF-like calcium-binding domain", "Growth factor receptor cysteine-rich domain superfamily", "Zona pellucida domain", "conserved site", "EGF-like calcium-binding", "conserved site", "EGF domain", "Zona pellucida", "ZP-C domain", "Zona pellucida domain", "chordate-type", "NOTCH1 EGF-like calcium-binding domain", "ZP-C domain", "ZP-N domain", "Protein kinase C-binding NELL"], "string_link": "https://string-db.org/network/9606/ENSG00000169344", "ortholog_mouse": "Umod", "ortholog_xenopus": "LOC101731793, LOC116407732, LOC116407809, LOC116407810, LOC116407811, LOC116407812, umod.3", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.4793, "sd_percent_ciliated": 10.4783, "z_score": -0.4277, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 2.99, "sd_percent_ciliated": 2.99, "z_score": 2.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.8438, "sd_percent_ciliated": -3.8438, "z_score": -3.8438, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UNC119", "ensembl_id": "ENSG00000109103", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "unc-119 lipid binding chaperone [Source:HGNC Symbol,Acc:HGNC:12565]", "omim_id": "604011", "functional_summary": "UNC119 bound T伪-GTP, inhibiting its GTPase activity, thereby providing a stable UNC119鈥揟伪-GTP complex capable of diffusing from the inner segment back to the outer segment after light-induced translocation. UNC119 is a G伪 subunit cofactor essential for G protein trafficking in sensory cilia(21642972). nphp-2 (the C. elegans Inversin homolog) and the doublet region genes arl-13, klp-11, and unc-119 are redundantly required for ciliogenesis(25501555).", "localization": "cilia, Centrosome, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "21642972 , 25501555", "complex_components": ["ARL3", "RP2", "UNC119", "PDE8A", "PDE9A"], "pfam_ids": "PF05351", "domain_descriptions": ["GMP phosphodiesterase", "delta subunit", "Immunoglobulin E-set", "GMP phosphodiesterase", "delta subunit superfamily", "PDE6D/unc-119 myristoyl-binding"], "string_link": "https://string-db.org/network/9606/ENSG00000109103", "synonym": "HRG4, POC7, POC7A", "ortholog_mouse": "Unc119", "ortholog_c_elegans": "unc-119", "ortholog_xenopus": "unc119", "ortholog_zebrafish": "unc119a1, unc119a2", "ortholog_drosophila": "unc-119", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.8026, "sd_percent_ciliated": 7.993, "z_score": -0.2673, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.96, "sd_percent_ciliated": 4.96, "z_score": 4.96, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9554, "sd_percent_ciliated": -1.9554, "z_score": -1.9554, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UNC119B", "ensembl_id": "ENSG00000175970", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "unc-119 lipid binding chaperone B [Source:HGNC Symbol,Acc:HGNC:16488]", "omim_id": "620513", "functional_summary": "ARL3 effector UNC119 as a binding partner of the myristoylated ciliopathy protein nephrocystin-3 (NPHP3). Binding of ARL3-GTP serves to release myristoylated cargo from UNC119.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Ciliary membrane, Transition zone", "reference": "2.2085962E7", "complex_components": {}, "pfam_ids": "PF05351", "domain_descriptions": ["GMP phosphodiesterase", "delta subunit", "Immunoglobulin E-set", "GMP phosphodiesterase", "delta subunit superfamily", "PDE6D/unc-119 myristoyl-binding"], "string_link": "https://string-db.org/network/9606/ENSG00000175970", "synonym": "MGC5139, POC7B", "ortholog_mouse": "Unc119b", "ortholog_c_elegans": "unc-119", "ortholog_xenopus": "unc119b", "ortholog_zebrafish": "unc119b", "ortholog_drosophila": "unc-119", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.68, "sd_percent_ciliated": 2.68, "z_score": 2.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.9088, "sd_percent_ciliated": 1.9088, "z_score": 1.9088, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "UNC13D", "ensembl_id": "ENSG00000092929", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "unc-13 homolog D [Source:HGNC Symbol,Acc:HGNC:23147]", "omim_id": "608897", "functional_summary": "SLC38A4 exhibited an opposite regulatory trend in ARL3T31A and ARL3T31A/C118F groups, while IQUB, UNC13D, RAB3IP, and GRIP1 were specifically downregulated in the ARL3T31A/C118F group ( 38457249).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion", "reference": "3.8457249E7", "complex_components": {}, "pfam_ids": ["PF00168", "PF06292"], "domain_descriptions": ["C2 domain", "C2 domain superfamily", "UNC-13 domain-containing protein", "MUN domain", "Munc13 homology 1", "Mammalian uncoordinated homology 13", "domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000092929", "synonym": "MUNC13-4", "ortholog_mouse": "Unc13d", "ortholog_c_elegans": "F54G2.1", "ortholog_xenopus": "unc13d", "ortholog_zebrafish": "unc13d", "ortholog_drosophila": "unc-13-4A", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.489, "sd_percent_ciliated": 2.2694, "z_score": -0.3053 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.931, "sd_percent_ciliated": 0.931, "z_score": 0.931 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.8881, "sd_percent_ciliated": 0.8881, "z_score": 0.8881 } ] }, { "gene": "UPF2", "ensembl_id": "ENSG00000151461", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UPF2 regulator of nonsense mediated mRNA decay [Source:HGNC Symbol,Acc:HGNC:17854]", "omim_id": "605529", "functional_summary": "UPF2 has localized in cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ALYREF", "NXF1", "RBM8A", "RNPS1", "SRRM1", "UPF2", "UPF3B", "DDX39B", "EIF4A3", "MAGOH", "UPF1", "UPF3A", "DCP2", "EXOSC10", "EXOSC2", "EXOSC4", "PARN", "XRN1", "XRN2", "SMG1"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000151461", "synonym": "DKFZP434D222, KIAA1408, RENT2, SMG-3", "ortholog_mouse": "Upf2", "ortholog_c_elegans": "smg-3", "ortholog_xenopus": "upf2", "ortholog_zebrafish": "upf2", "ortholog_drosophila": "Upf2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.8658, "sd_percent_ciliated": 3.9391, "z_score": 0.4672 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.49, "sd_percent_ciliated": 9.49, "z_score": 9.49 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.7088, "sd_percent_ciliated": 0.7088, "z_score": 0.7088 } ] }, { "gene": "UPF3A", "ensembl_id": "ENSG00000169062", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "UPF3A regulator of nonsense mediated mRNA decay [Source:HGNC Symbol,Acc:HGNC:20332]", "omim_id": "605530", "functional_summary": "UPF3A has localized in basal body, cilia.", "localization": "basal body, cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["UPF1", "UPF2", "UPF3A", "NXF1", "RBM8A", "RNPS1", "UPF3B", "ALYREF"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000169062", "synonym": "HUPF3A, RENT3A, UPF3", "ortholog_mouse": "Upf3a", "ortholog_c_elegans": "smg-4", "ortholog_xenopus": "upf3a", "ortholog_zebrafish": "upf3a", "ortholog_drosophila": "Upf3", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.8811, "sd_percent_ciliated": 7.1285, "z_score": -0.379 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.156, "sd_percent_ciliated": 0.156, "z_score": 0.156 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.1499, "sd_percent_ciliated": -0.1499, "z_score": -0.1499 } ] }, { "gene": "USH1C", "ensembl_id": "ENSG00000006611", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "USH1 protein network component harmonin [Source:HGNC Symbol,Acc:HGNC:12597]", "omim_id": "605242", "functional_summary": "Mutation are associated with Usher syndrome type 1c (16464467). Binds to myosin VIIa,cadherin 23 and F-actin (12588794).", "localization": "Ciliary associated gene, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "1.2588794E7", "complex_components": ["USH1C", "USH1G", "CDH23", "MYO7A", "ADGRV1", "USH2A"], "pfam_ids": ["PF21219", "PF00595"], "domain_descriptions": ["PDZ domain", "Harmonin", "N-terminal", "PDZ superfamily", "Sensory Perception USH2 Complex Protein"], "string_link": "https://string-db.org/network/9606/ENSG00000006611", "synonym": "AIE-75, DFNB18, HARMONIN, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C", "ortholog_mouse": "Ush1c", "ortholog_xenopus": "ush1c", "ortholog_zebrafish": "ush1c", "ortholog_drosophila": "CG5921", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 42.1947, "sd_percent_ciliated": 20.4664, "z_score": 0.5071 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.0231, "sd_percent_ciliated": -8.0231, "z_score": -8.0231 } ] }, { "gene": "USH1G", "ensembl_id": "ENSG00000182040", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "USH1 protein network component sans [Source:HGNC Symbol,Acc:HGNC:16356]", "omim_id": "607696", "functional_summary": "Ciliopathy gene OMIM: 607696. Mutation are associated with Usher syndrome type 1g. Associates with harmonin and is involved in the functio l network formed through it (12588794). Required for outer segment differentiation, formation and mainte nce of reti and photoreceptor cell polarity. Scaffold protein in the USH network during ciliogenesis, as dysfunction leads to reti l degeneration (17923142). Form a complex with myomegalin, cooperating in the vesicle transport towards the ciliary base of photoreceptor cells (21767579). Interacts directly with IFT-B proteins, IFT20, IFT52, IFT57, and IFT74, ISHG1 may control the transport of these molecules to the ciliary base (31637240).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "10738000, 17360538, 18826961, 23351521, 12588794", "complex_components": ["USH1C", "USH1G", "MYO7A", "USH2A", "WHRN", "ADGRV1"], "pfam_ids": ["PF12796", "PF00536"], "domain_descriptions": ["Sterile alpha motif domain", "Ankyrin repeat", "Sterile alpha motif/pointed domain superfamily", "Ankyrin repeat-containing domain superfamily", "USH1G", "SAM domain"], "string_link": "https://string-db.org/network/9606/ENSG00000182040", "synonym": "ANKS4A, FLJ33924, SANS", "ortholog_mouse": "Ush1g", "ortholog_xenopus": "ush1g", "ortholog_zebrafish": "ush1ga, ush1gb", "ortholog_drosophila": "Sans", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 33.8091, "sd_percent_ciliated": 5.4277, "z_score": -0.5089 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.8762, "sd_percent_ciliated": 1.8762, "z_score": 1.8762 } ] }, { "gene": "USH2A", "ensembl_id": "ENSG00000042781", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "usherin [Source:HGNC Symbol,Acc:HGNC:12601]", "omim_id": "608400", "functional_summary": "MIM: 608400 (10738000) Required for the long-term mainte nce of reti l photoreceptors (17360538). Interacts and colocalises with Nlp and lebercilin at the centrosome (18826961). Interacts with SPAG5 and NINL to regulate microtubule-based cytoplasmic trafficking of proteins required for ciliogenesis, mainte nce and/or function, to the apical inner segment and basal body of photoreceptor. Mutations are associated withnon- syndromic retinitis pigmentosa and Usher syndrome (23351521).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "30388222, 10775529, 17296898, 9624053, 10729113", "complex_components": ["ADGRV1", "PDZD7", "USH2A", "WHRN", "USH1G", "USH1C"], "pfam_ids": ["PF00053", "PF13385", "PF02210", "PF00041", "PF00055"], "domain_descriptions": ["Laminin G domain", "Laminin-type EGF domain", "Fibronectin type III", "LamG-like jellyroll fold", "Laminin", "N-terminal", "Concanavalin A-like lectin/glucanase domain superfamily", "Immunoglobulin-like fold", "Fibronectin type III superfamily", "Receptor-type Tyrosine-protein Phosphatases/Ushers", "Laminin/Netrin Extracellular Matrix"], "string_link": "https://string-db.org/network/9606/ENSG00000042781", "synonym": "RP39, USH2", "ortholog_mouse": "Ush2a", "ortholog_zebrafish": "ush2a", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 22.3895, "sd_percent_ciliated": 5.0231, "z_score": -1.8924, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.4922, "sd_percent_ciliated": 0.4922, "z_score": 0.4922, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "USP11", "ensembl_id": "ENSG00000102226", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin specific peptidase 11 [Source:HGNC Symbol,Acc:HGNC:12609]", "omim_id": "300050", "functional_summary": "USP11 staining was observed in the cytoplasm and cilia(31835165).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "31835165, 31835165 ,31835165", "complex_components": {}, "pfam_ids": ["PF14533", "PF14836", "PF00443", "PF06337"], "domain_descriptions": ["Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Peptidase C19", "ubiquitin-specific peptidase", "DUSP domain", "Ubiquitin specific protease", "conserved site", "Ubiquitin-like domain", "USP-type", "Ubiquitin specific protease domain", "Ubiquitin carboxyl-terminal hydrolase", "C-terminal", "DUSP-like superfamily", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000102226", "synonym": "UHX1", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Usp11", "ortholog_c_elegans": "usp-4", "ortholog_zebrafish": "usp11", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.4823, "sd_percent_ciliated": 6.6909, "z_score": -0.3062, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.439, "sd_percent_ciliated": 0.439, "z_score": 0.439, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9961, "sd_percent_ciliated": -2.9961, "z_score": -2.9961, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "USP14", "ensembl_id": "ENSG00000101557", "overexpression_effects": "Unknown", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "ubiquitin specific peptidase 14 [Source:HGNC Symbol,Acc:HGNC:12612]", "omim_id": "607274", "functional_summary": "Deubiquiti ting enzyme. Regulator of the ubiquitin proteasome system that controls controls ciliogenesis and cilium elongation, it positively affects Hh sig lling through the degradation of Kif7. Controls Gli2 ciliary localisation ( 30388222).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "24378640, 27746045, 29472535", "complex_components": {}, "pfam_ids": "PF00443", "domain_descriptions": ["Ubiquitin-like domain", "Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Ubiquitin specific protease", "conserved site", "Ubiquitin conserved site", "Ubiquitin specific protease domain", "Ubiquitin-like domain superfamily", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolase 14-like"], "string_link": "https://string-db.org/network/9606/ENSG00000101557", "synonym": "TGT, UBP6", "ortholog_mouse": "Usp14", "ortholog_c_elegans": "usp-14", "ortholog_xenopus": "usp14", "ortholog_zebrafish": "usp14", "ortholog_drosophila": "Usp14", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 48.0425, "sd_percent_ciliated": 4.9329, "z_score": 1.2156, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.6967, "sd_percent_ciliated": -1.6967, "z_score": -1.6967, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "USP21", "ensembl_id": "ENSG00000143258", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Decreased", "description": "ubiquitin specific peptidase 21 [Source:HGNC Symbol,Acc:HGNC:12620]", "omim_id": "604729", "functional_summary": "Loss of USP21 leads to the proteasomal degradation of DPYSL2 and causes a significant reduction in its centrosome abundance, ultimately resulting in ciliary defects (40619097).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "4.0619097E7", "complex_components": {}, "pfam_ids": "PF00443", "domain_descriptions": ["Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000143258", "synonym": "USP16, USP23", "ortholog_mouse": "Usp16, Usp21", "ortholog_xenopus": "usp16, usp21", "ortholog_zebrafish": "usp16, usp21", "ortholog_drosophila": "Usp16-45, Usp2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.649, "sd_percent_ciliated": 11.3355, "z_score": 0.441 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.89, "sd_percent_ciliated": 2.89, "z_score": 2.89 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.6804, "sd_percent_ciliated": -3.6804, "z_score": -3.6804 } ] }, { "gene": "USP33", "ensembl_id": "ENSG00000077254", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin specific peptidase 33 [Source:HGNC Symbol,Acc:HGNC:20059]", "omim_id": "615146", "functional_summary": "USP33 interacts with CP110 and localizes to centrioles primarily in S and G2/M phases, the periods during which centrioles duplicate and elongate(23486064).", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "2.3486064E7", "complex_components": ["ELOB", "ELOC", "USP33", "VHL", "ADRB2"], "pfam_ids": ["PF06337", "PF00443", "PF02148"], "domain_descriptions": ["Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Zinc finger", "UBP-type", "Peptidase C19", "ubiquitin-specific peptidase", "DUSP domain", "Zinc finger", "RING/FYVE/PHD-type", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "DUSP-like superfamily", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000077254", "synonym": "KIAA1097, VDU1", "ortholog_mouse": "Usp33", "ortholog_c_elegans": "usp-33", "ortholog_xenopus": "usp33", "ortholog_zebrafish": "usp33", "ortholog_drosophila": "Usp20-33", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.0103, "sd_percent_ciliated": 4.404, "z_score": -0.4845 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.463, "sd_percent_ciliated": 0.463, "z_score": 0.463 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.8047, "sd_percent_ciliated": -1.8047, "z_score": -1.8047 } ] }, { "gene": "USP35", "ensembl_id": "ENSG00000118369", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin specific peptidase 35 [Source:HGNC Symbol,Acc:HGNC:20061]", "omim_id": "620959", "functional_summary": "USP35 (and its orthologue USP38) showed that suppression or ablation in vivo rescued a host of ciliopathy-associated a tomical pathologies, with concomitant rescue of the overabundance of key sig ling molecules ( 31723061).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.1723061E7", "complex_components": {}, "pfam_ids": ["PF00443", "PF21246"], "domain_descriptions": ["Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolases", "Ubiquitin carboxyl-terminal hydrolase 38-like", "N-terminal domain", "Armadillo-type fold"], "string_link": "https://string-db.org/network/9606/ENSG00000118369", "synonym": "KIAA1372", "ortholog_mouse": "Usp35", "ortholog_xenopus": "usp35", "ortholog_drosophila": "DUBAI", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 27.9418, "sd_percent_ciliated": 10.8083, "z_score": -1.2197, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 6.86, "sd_percent_ciliated": 6.86, "z_score": 6.86, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "USP38", "ensembl_id": "ENSG00000170185", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin specific peptidase 38 [Source:HGNC Symbol,Acc:HGNC:20067]", "omim_id": "618322", "functional_summary": "USP35 (and its orthologue USP38) showed that suppression or ablation in vivo rescued a host of ciliopathy-associated a tomical pathologies, with concomitant rescue of the overabundance of key sig ling molecules ( 31723061).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "3.1723061E7", "complex_components": {}, "pfam_ids": ["PF21246", "PF00443"], "domain_descriptions": ["Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "Ubiquitin-specific peptidase 38", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolase 38-like", "N-terminal domain", "Ubiquitin carboxyl-terminal hydrolases"], "string_link": "https://string-db.org/network/9606/ENSG00000170185", "synonym": "HP43.8KD, KIAA1891", "ortholog_mouse": "Usp38", "ortholog_xenopus": "usp38", "ortholog_zebrafish": "usp38", "ortholog_drosophila": "DUBAI", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.3132, "z_score": 0.5702, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.7863, "z_score": 2.7596, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 13.4864 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.5, "z_score": 13.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 13.5 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1492, "z_score": -1.1492, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.1492 } ] }, { "gene": "USP4", "ensembl_id": "ENSG00000114316", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin specific peptidase 4 [Source:HGNC Symbol,Acc:HGNC:12627]", "omim_id": "603486", "functional_summary": "USP4 has localized in basal body.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF06337", "PF14836", "PF00443"], "domain_descriptions": ["Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Peptidase C19", "ubiquitin-specific peptidase", "DUSP domain", "Ubiquitin specific protease", "conserved site", "Ubiquitin-like domain", "USP-type", "Ubiquitin specific protease domain", "DUSP-like superfamily", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolase", "SSNA1 family"], "string_link": "https://string-db.org/network/9606/ENSG00000114316", "synonym": "UNP, UNPH", "ortholog_mouse": "Usp4", "ortholog_c_elegans": "usp-4", "ortholog_xenopus": "usp4", "ortholog_zebrafish": "usp4", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.4808, "z_score": -1.2389, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 26.4059, "z_score": -1.4058, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.8784 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.54, "z_score": 3.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.54 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.6982, "z_score": -5.6982, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.6982 } ] }, { "gene": "USP45", "ensembl_id": "ENSG00000123552", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitin specific peptidase 45 [Source:HGNC Symbol,Acc:HGNC:20080]", "omim_id": "618439", "functional_summary": "Mutations in the USP45 gene cause Leber Congenital Amaurosis (PMID: 30573563).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "30573563 ,30573563", "complex_components": ["SPDL1", "USP45"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000123552", "synonym": "MGC14793", "ciliopathy": "Leber Congenital Amaurosis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Usp45", "ortholog_xenopus": "usp45", "ortholog_zebrafish": "usp45", "ortholog_drosophila": "Usp16-45", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 43.8292, "sd_percent_ciliated": 1.0345, "z_score": 0.7051 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.76, "sd_percent_ciliated": 1.76, "z_score": 1.76 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.5098, "sd_percent_ciliated": -2.5098, "z_score": -2.5098 } ] }, { "gene": "USP48", "ensembl_id": "ENSG00000090686", "overexpression_effects": "Decreased", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "ubiquitin specific peptidase 48 [Source:HGNC Symbol,Acc:HGNC:18533]", "omim_id": "617445", "functional_summary": "Endogenous USP48 localises to the basal body in reti l cells and provide data that supports the function of USP48 in the photoreceptor cilium. USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms.", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.629338E7", "complex_components": {}, "pfam_ids": ["PF06337", "PF00443"], "domain_descriptions": ["Ubiquitin-like domain", "Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Peptidase C19", "ubiquitin-specific peptidase", "DUSP domain", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "Ubiquitin-like domain superfamily", "Ubiquitin-specific peptidase 48", "DUSP-like superfamily", "Papain-like cysteine peptidase superfamily", "Ubiquitin-specific-processing protease 48", "Ubl domain", "Ubiquitin carboxyl-terminal hydrolases"], "string_link": "https://string-db.org/network/9606/ENSG00000090686", "synonym": "FLJ11328, FLJ20103, FLJ23054, FLJ23277, MGC14879, USP31", "ortholog_mouse": "Usp31, Usp48", "ortholog_c_elegans": "usp-48", "ortholog_xenopus": "usp31, usp48", "ortholog_zebrafish": "usp31, usp48", "ortholog_drosophila": "Usp15-31", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.5882, "sd_percent_ciliated": 3.4717, "z_score": 0.7971 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 6.74, "sd_percent_ciliated": 6.74, "z_score": 6.74 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1558, "sd_percent_ciliated": -2.1558, "z_score": -2.1558 } ] }, { "gene": "USP8", "ensembl_id": "ENSG00000138592", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "ubiquitin specific peptidase 8 [Source:HGNC Symbol,Acc:HGNC:12631]", "omim_id": "603158", "functional_summary": "Binds to, stabilises and deubiquiti tes HIF1伪 to control ciliogenesis, maintaining a basal expression of HIF1伪 (24378640). Recruited by SUMOylated Smo to antagonise Smo ubiquiti tion and degradation, leading to increased Hh pathway activity (27746045). USP8 phosphorylation by EGFR is essential for suppression of ciliogenesis, indicating that mutations or lack of USP8 function may cause ciliopathies through elongation of primary cilia (29472535).", "localization": "basal body, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "28498859, 30584065, 31671755", "complex_components": ["OTUB1", "RNF128", "USP8"], "pfam_ids": ["PF08969", "PF00443", "PF00581", "PF20625"], "domain_descriptions": ["USP8 dimerisation domain", "Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Rhodanese-like domain", "Ubiquitin specific protease", "conserved site", "Ubiquitin specific protease domain", "Rhodanese-like domain superfamily", "Papain-like cysteine peptidase superfamily", "USP8", "WW domain", "Ubiquitin carboxyl-terminal hydrolase"], "string_link": "https://string-db.org/network/9606/ENSG00000138592", "synonym": "HUMORF8, KIAA0055, SPG59, UBPY", "ortholog_mouse": "Usp8", "ortholog_c_elegans": "usp-50", "ortholog_xenopus": "usp8", "ortholog_zebrafish": "usp8", "ortholog_drosophila": "Usp8", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.4324, "z_score": 0.6074, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 59.5413, "z_score": 2.6087, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 11.3826 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 21.2, "z_score": 21.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 21.2 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.5632, "z_score": -2.5632, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -2.5632 } ] }, { "gene": "USP9X", "ensembl_id": "ENSG00000124486", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "ubiquitin specific peptidase 9 X-linked [Source:HGNC Symbol,Acc:HGNC:12632]", "omim_id": "300072", "functional_summary": "Deubiquiti ting enzyme localised to centrosome, involved in context-dependent ciliogenesis. Regulates level of ubiquiti tion of NPHP5 to control ciliogenesis. In the G0/G1/S phase, USP9X is recruited to the centrosome by NPHP5, and later protects NPHP5 from ubiquiti tion, promoting cilia assembly. In the G2/M phase, USP9X dissociates from the centrosome allowing BBS11 to K63 ubiquiti te NPHP5, triggering loss of cilia. Works with two E3 ubiquitin ligases BBS11/TRIM32 and MARCHF7 (28498859). Binds and stabilises PCM1 to prevent its degradation and regulate centriolar satellite integrity. Regulates centrosome duplication (30584065). During Serum- Starvation-Induced Ciliogenesis, it is recruited by SNX17 to antagonize MIB1- Mediated Ubiquiti tion and Degradation of PCM1 (31671755).", "localization": "basal body, cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "20643117, 23406901, 27571019", "complex_components": ["ITCH", "USP9X"], "pfam_ids": ["PF25010", "PF22900", "PF00443", "PF12030"], "domain_descriptions": ["Armadillo-type fold", "UBP24/USP9X/USP9Y", "ubiquitin-like domain", "UBP34/UBP24/USP9X/USP9Y-like", "ARM repeat region", "Peptidase C19", "ubiquitin carboxyl-terminal hydrolase", "Ubiquitin specific protease", "conserved site", "Ubiquitin C-terminal hydrolase-like", "DUF3517", "Ubiquitin specific protease domain", "Papain-like cysteine peptidase superfamily", "Ubiquitin carboxyl-terminal hydrolases"], "string_link": "https://string-db.org/network/9606/ENSG00000124486", "synonym": "DFFRX, FAF, FAF-X, MRX99", "ortholog_mouse": "Usp9x", "ortholog_c_elegans": "T24B8.7", "ortholog_xenopus": "usp9x", "ortholog_zebrafish": "usp9", "ortholog_drosophila": "faf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.8374, "sd_percent_ciliated": 2.1598, "z_score": 0.1003 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 17.2, "sd_percent_ciliated": 17.2, "z_score": 17.2 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.4852, "sd_percent_ciliated": -4.4852, "z_score": -4.4852 } ] }, { "gene": "UTRN", "ensembl_id": "ENSG00000152818", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "utrophin [Source:HGNC Symbol,Acc:HGNC:12635]", "omim_id": "128240", "functional_summary": "UTRN has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Cardiac & muscle development, Muscle contraction & physiology, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["CAV1", "DAG1", "NOS3", "SGCE", "UTRN"], "pfam_ids": ["PF09069", "PF09068", "PF00307", "PF00435", "PF00569"], "domain_descriptions": ["Zinc finger", "ZZ-type", "WW domain", "Actinin-type actin-binding domain", "conserved site", "Calponin homology domain", "Spectrin repeat", "EF-hand domain pair", "EF-hand domain", "type 1", "EF-hand domain", "type 2", "Spectrin/alpha-actinin", "Dystrophin/utrophin", "WW domain superfamily", "CH domain superfamily", "Zinc finger", "ZZ-type superfamily", "KCMF1 and Dystrophin"], "string_link": "https://string-db.org/network/9606/ENSG00000152818", "synonym": "DMDL, DRP, DRP1", "ortholog_mouse": "Utrn", "ortholog_c_elegans": "dys-1", "ortholog_xenopus": "utrn", "ortholog_zebrafish": "utrn", "ortholog_drosophila": "Dys", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 36.3271, "sd_percent_ciliated": 10.9682, "z_score": -0.2038 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 3.82, "sd_percent_ciliated": 3.82, "z_score": 3.82 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.5577, "sd_percent_ciliated": -0.5577, "z_score": -0.5577 } ] }, { "gene": "UXT", "ensembl_id": "ENSG00000126756", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ubiquitously expressed prefoldin like chaperone [Source:HGNC Symbol,Acc:HGNC:12641]", "omim_id": "300234", "functional_summary": "UXT has localized in basal body, transition zone.", "localization": "basal body, transition zone, Centrosome, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["NFKB1", "RELA", "UXT", "AR", "ESR1", "NR3C1"], "pfam_ids": "PF02996", "domain_descriptions": ["Ubiquitously expressed transcript protein UXT", "Prefoldin alpha-like", "Prefoldin"], "string_link": "https://string-db.org/network/9606/ENSG00000126756", "synonym": "ART-27, SKP2, STAP1", "ortholog_mouse": "Skp2, Stap1, Uxt", "ortholog_c_elegans": "F35H10.6, skpt-1", "ortholog_xenopus": "skp2, stap1", "ortholog_zebrafish": "skp2, uxt", "ortholog_drosophila": "Skp2, Uxt", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 32.9167, "sd_percent_ciliated": 10.9012, "z_score": -0.617 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.66, "sd_percent_ciliated": 4.66, "z_score": 4.66 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.8321, "sd_percent_ciliated": -4.8321, "z_score": -4.8321 } ] }, { "gene": "VANGL1", "ensembl_id": "ENSG00000173218", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "VANGL planar cell polarity protein 1 [Source:HGNC Symbol,Acc:HGNC:15512]", "omim_id": "610132", "functional_summary": "Live imaging in Xenopus reveals that Pk2, a cytoplasmic effector of the PCP pathway, controls the directio l ciliary beating in multiciliated cells by regulating Vangl1 dy mics at the cell cortex ( 26293301).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "2.6293301E7", "complex_components": ["NOS1AP", "SCRIB", "VANGL1"], "pfam_ids": "PF06638", "domain_descriptions": "Vang-like protein", "string_link": "https://string-db.org/network/9606/ENSG00000173218", "synonym": "STB2", "ortholog_mouse": "Vangl1", "ortholog_c_elegans": "vang-1", "ortholog_zebrafish": "vangl1", "ortholog_drosophila": "Vang", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.1375, "sd_percent_ciliated": 2.7252, "z_score": -0.8326 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 2.511, "sd_percent_ciliated": 2.511, "z_score": 2.511 } ] }, { "gene": "VANGL2", "ensembl_id": "ENSG00000162738", "overexpression_effects": "Unknown", "lof_effects": "Sherter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "VANGL planar cell polarity protein 2 [Source:HGNC Symbol,Acc:HGNC:15511]", "omim_id": "600533", "functional_summary": "Pla r cell polarity protein, equired for Kupffer's vesicle function and establishment of asymmetry. Interacts with BBS8 to establish and maintain the left鈥搑ight asymmetry during early embryogenesis in zebrafish. Required for nuclear positioning, centrosome migration and regulation of the number and length of cilia (20643117). Cooperates with cofilin to target Rab11+ vesicles containing pla r pla r cell polarity proteins to the apical membrane (23406901). Interacts with Arl13b to regulate cilia and photoreceptor outer segment length in Zebrafish. Mutations cause neural tube defects (27571019).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "26389662 ,25024228", "complex_components": ["SCRIB", "VANGL2", "RAC1", "RHOA"], "pfam_ids": "PF06638", "domain_descriptions": "Vang-like protein", "string_link": "https://string-db.org/network/9606/ENSG00000162738", "synonym": "KIAA1215, LPP1, LTAP, MGC119403, MGC119404, STB1, STBM, STBM1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Vangl2", "ortholog_c_elegans": "vang-1", "ortholog_xenopus": "vangl2", "ortholog_zebrafish": "vangl2", "ortholog_drosophila": "Vang", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.2122, "sd_percent_ciliated": 2.2341, "z_score": -0.9447 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.82, "sd_percent_ciliated": 4.82, "z_score": 4.82 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.1125, "sd_percent_ciliated": 1.1125, "z_score": 1.1125 } ] }, { "gene": "VARS1", "ensembl_id": "ENSG00000231116", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "valyl-tRNA synthetase 1 [Source:HGNC Symbol,Acc:HGNC:12651]", "omim_id": "192150", "functional_summary": "VARS1 has localized in flagella.", "localization": "flagella", "reference": "https://www.proteinatlas.org/", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000231116", "synonym": "VARS, VARS2", "ortholog_mouse": "Vars1, Vars2", "ortholog_c_elegans": "glp-4, vars-1", "ortholog_xenopus": "vars1, vars2", "ortholog_zebrafish": "vars1, vars2", "ortholog_drosophila": "ValRS, ValRS-m", "screens": {} }, { "gene": "VASH1", "ensembl_id": "ENSG00000071246", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "vasohibin 1 [Source:HGNC Symbol,Acc:HGNC:19964]", "omim_id": "609011", "functional_summary": "VASH1 has localized in basal body.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF14822", "domain_descriptions": "Tubulinyl-Tyr carboxypeptidase", "string_link": "https://string-db.org/network/9606/ENSG00000071246", "synonym": "KIAA1036", "ortholog_mouse": "Vash1", "ortholog_xenopus": "vash1", "ortholog_zebrafish": "vash1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0555, "sd_percent_ciliated": 0.0555, "z_score": 0.0555, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.5591, "sd_percent_ciliated": 0.5591, "z_score": 0.5591, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VCAN", "ensembl_id": "ENSG00000038427", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "versican [Source:HGNC Symbol,Acc:HGNC:2464]", "omim_id": "118661", "functional_summary": "VCAN localized to flagella (25613900)", "localization": "flagella", "functional_category": "Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.56139E7", "complex_components": {}, "pfam_ids": ["PF00008", "PF00193", "PF00084", "PF07686", "PF00059"], "domain_descriptions": ["EGF-type aspartate/asparagine hydroxylation site", "Sushi/SCR/CCP domain", "Link domain", "EGF-like domain", "C-type lectin-like", "EGF-like calcium-binding domain", "Immunoglobulin domain subtype", "Immunoglobulin-like domain", "Immunoglobulin V-set domain", "Immunoglobulin-like fold", "C-type lectin-like/link domain superfamily", "C-type lectin fold", "EGF-like calcium-binding", "conserved site", "C-type lectin", "conserved site", "Aggrecan/versican", "C-type lectin-like domain", "Sushi/SCR/CCP superfamily", "Immunoglobulin-like domain superfamily", "Hyaluronan-binding Proteoglycan"], "string_link": "https://string-db.org/network/9606/ENSG00000038427", "synonym": "CSPG2, PG-M", "ortholog_mouse": "Vcan", "ortholog_xenopus": "vcan", "ortholog_zebrafish": "vcana, vcanb", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.25, "sd_percent_ciliated": 2.25, "z_score": 2.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.9242, "sd_percent_ciliated": 0.9242, "z_score": 0.9242, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VCP", "ensembl_id": "ENSG00000165280", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "valosin containing protein [Source:HGNC Symbol,Acc:HGNC:12666]", "omim_id": "601023", "functional_summary": "Regulator of protein quality control and ubiquitin-mediated sig ling. Interacts wiith UBXN10 to control its localisation to cilia. VCP and UBXN10 interaction is also required for ciliogenesis and mainte nce of cilia (26389662).", "localization": "cilia, basal body , transition zone, Autophagosomes, Cytosol, Endosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Metabolism, Viral interactions, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "11507092, 23388454, 26264029", "complex_components": ["BRCA1", "VCP", "DERL1", "SVIP", "AMFR", "SELENOS", "DERL2", "SEL1L", "SYVN1", "NPLOC4", "UFD1", "CANX", "DDOST", "RPN1", "RPN2", "SELENOK", "STT3A", "UBQLN1", "UBXN4", "ATXN3", "RNF8", "BAG6", "FAF2", "ZFAND2B"], "pfam_ids": ["PF02359", "PF17862", "PF00004", "PF02933", "PF09336"], "domain_descriptions": ["CDC48", "N-terminal subdomain", "AAA+ ATPase domain", "ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "CDC48", "domain 2", "AAA ATPase", "CDC48 family", "Aspartate decarboxylase-like domain superfamily", "P-loop containing nucleoside triphosphate hydrolase", "CDC48 domain 2-like superfamily", "AAA ATPase", "AAA+ lid domain", "AAA ATPase domain-containing protein", "Spastin/Vps4", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000165280", "synonym": "CDC48, IBMPFD, P97, TERA", "ortholog_mouse": "Vcp", "ortholog_c_elegans": "cdc-48.1, cdc-48.2", "ortholog_xenopus": "vcp", "ortholog_zebrafish": "vcp", "ortholog_drosophila": "TER94", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.6069, "sd_percent_ciliated": 2.8103, "z_score": 0.0724 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.91, "sd_percent_ciliated": 1.91, "z_score": 1.91 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -24.2334, "sd_percent_ciliated": -24.2334, "z_score": -24.2334 } ] }, { "gene": "VDAC1", "ensembl_id": "ENSG00000213585", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "voltage dependent anion channel 1 [Source:HGNC Symbol,Acc:HGNC:12669]", "omim_id": "604492", "functional_summary": "Centrosomal VDAC1 is predomi ntly localized to the mother centriole, while VDAC2 localizes to centriolar satellites in a microtubule-dependent manner. Down-regulation of VDAC1 leads to i ppropriate ciliogenesis, while its overexpression suppresses cilia formation(26264029).", "localization": "basal body, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "26264029 ,33602982", "complex_components": ["PPIF", "SPG7", "VDAC1", "HK1", "ATF2", "APP", "CAV1", "ESR1"], "pfam_ids": "PF01459", "domain_descriptions": ["Porin", "eukaryotic type", "Porin domain superfamily", "Eukaryotic porin/Tom40"], "string_link": "https://string-db.org/network/9606/ENSG00000213585", "synonym": "MGC111064, PORIN", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Vdac1", "ortholog_c_elegans": "vdac-1", "ortholog_xenopus": "vdac1", "ortholog_zebrafish": "vdac1", "ortholog_drosophila": "CG17139, CG17140, porin, Porin2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 30.7302, "sd_percent_ciliated": 3.83, "z_score": -0.8819, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.334, "sd_percent_ciliated": 0.334, "z_score": 0.334, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.9618, "sd_percent_ciliated": -1.9618, "z_score": -1.9618, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VDAC2", "ensembl_id": "ENSG00000165637", "overexpression_effects": "Not Reported", "lof_effects": "Increased; Decreased", "percent_ciliated_cells_effects": "Not Reported; Decreased", "description": "voltage dependent anion channel 2 [Source:HGNC Symbol,Acc:HGNC:12672]", "omim_id": "193245", "functional_summary": "Centrosomal VDAC1 is predomi ntly localized to the mother centriole, while VDAC2 localizes to centriolar satellites in a microtubule-dependent manner. VDAC2 appears to promote maturation of primary cilia(26264029).", "localization": "basal body, Nucleus, Mitochondria, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6264029E7", "complex_components": ["HAX1", "PHB1", "PHB2", "SLC25A5", "VDAC2"], "pfam_ids": "PF01459", "domain_descriptions": ["Porin", "eukaryotic type", "Porin domain superfamily", "Eukaryotic porin/Tom40"], "string_link": "https://string-db.org/network/9606/ENSG00000165637", "ortholog_mouse": "Vdac2", "ortholog_c_elegans": "vdac-1", "ortholog_xenopus": "vdac2", "ortholog_zebrafish": "vdac2", "ortholog_drosophila": "CG17139, CG17140, porin, Porin2", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 29.1231, "sd_percent_ciliated": 0.7802, "z_score": -1.0766 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 47.7, "sd_percent_ciliated": 47.7, "z_score": 47.7 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -9.0092, "sd_percent_ciliated": -9.0092, "z_score": -9.0092 } ] }, { "gene": "VDAC3", "ensembl_id": "ENSG00000078668", "overexpression_effects": "Decreased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "voltage dependent anion channel 3 [Source:HGNC Symbol,Acc:HGNC:12674]", "omim_id": "610029", "functional_summary": "Required for the mainte nce of axonemes of sperm, absence of VDAC3 in the mouse leads to defective axonemal structures in sperm and immotility (11507092). Modulates centriole assembly by recruites Mps1 to centrosomes. VDAC3-Mps1 interaction promotes ciliary disassembly during cell cycle entry and prevents cilia assembly in proliferating cells (23388454, 26264029).", "localization": "cilia, Nucleus, Mitochondria", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Reproduction & sperm, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "17450132, 17825299, 17912253, 16775032, 16849532, 17101696, 23255108 ,23388454", "complex_components": {}, "pfam_ids": "PF01459", "domain_descriptions": ["Porin", "eukaryotic type", "Porin domain superfamily", "Eukaryotic porin/Tom40"], "string_link": "https://string-db.org/network/9606/ENSG00000078668", "synonym": "HD-VDAC3", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Vdac3", "ortholog_c_elegans": "vdac-1", "ortholog_xenopus": "vdac3", "ortholog_zebrafish": "vdac3, zgc:56235", "ortholog_drosophila": "porin", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 45.7523, "sd_percent_ciliated": 4.7738, "z_score": 0.9381, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.66, "sd_percent_ciliated": 1.66, "z_score": 1.66, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.0425, "sd_percent_ciliated": -5.0425, "z_score": -5.0425, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VHL", "ensembl_id": "ENSG00000134086", "overexpression_effects": "No effect", "lof_effects": "Sherter cilia", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "von Hippel-Lindau tumor suppressor [Source:HGNC Symbol,Acc:HGNC:12687]", "omim_id": "608537", "functional_summary": "MIM: 193300, MIM: 144700, MIM: 171300, MIM: 263400, Somatic i ctivation of VHL causes re l and pancreatic cysts associated with cilia loss. Stabilises microtubule dy mics in the axoneme (17450132). Interacts with KIF3A and kinesin鈥", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Viral interactions, Transcription regulation", "reference": "29572244 ,16775032, 34002003", "complex_components": ["CUL2", "ELOB", "ELOC", "RBX1", "VHL", "USP33", "HIF1A", "PSMC3", "EGLN1", "LIMD1", "PLD1", "RHOBTB3", "AKAP6", "EPAS1"], "pfam_ids": ["PF17211", "PF01847"], "domain_descriptions": ["von Hippel-Lindau disease tumour suppressor", "beta/alpha domain", "von Hippel-Lindau disease tumour suppressor", "alpha domain", "von Hippel-Lindau disease tumour suppressor", "beta domain", "VHL superfamily", "von Hippel-Lindau disease tumour suppressor", "alpha domain superfamily", "von Hippel-Lindau disease tumour suppressor", "beta domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000134086", "synonym": "VHL1", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Vhl", "ortholog_c_elegans": "vhl-1", "ortholog_xenopus": "vhl", "ortholog_zebrafish": "vhl, vhll", "ortholog_drosophila": "Vhl", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.4155, "sd_percent_ciliated": 1.059, "z_score": -0.3142 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 8.13, "sd_percent_ciliated": 8.13, "z_score": 8.13 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.68, "sd_percent_ciliated": -3.68, "z_score": -3.68 } ] }, { "gene": "VIPR2", "ensembl_id": "ENSG00000106018", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "vasoactive intestinal peptide receptor 2 [Source:HGNC Symbol,Acc:HGNC:12695]", "omim_id": "601970", "functional_summary": "VPAC2 ciliary targeting is dependent on Tubby, the BBSome (a complex of Bardet鈥揃iedl syndrome proteins) and the BBSome targeting factor, Arl6 (25369807)., Vasoactive Intesti l Peptide Receptor 2 (VPAC2, also known as VIPR2) localizes to primary cilia not only in neurons but also in glial cells, including astrocytes and oligodendrocyte lineage cells. The C-terminus of VPAC2 is sufficient to target a non-ciliary membrane protein to cilia, and the BBSome (a complex of Bardet鈥揃iedl syndrome proteins), the BBSome targeting factor Arl6 and Tubby are important for ciliary targeting of endogenous VPAC2(25369807).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Cardiac & muscle development", "reference": "2.5369807E7", "complex_components": ["VIPR1", "VIPR2", "SCTR", "RAMP1", "RAMP2", "RAMP3"], "pfam_ids": ["PF02793", "PF00002"], "domain_descriptions": ["GPCR", "family 2", "secretin-like", "GPCR", "family 2", "vasoactive intestinal peptide receptor", "GPCR", "family 2", "extracellular hormone receptor domain", "GPCR", "family 2", "vasoactive intestinal peptide receptor 2", "GPCR", "family 2-like", "7TM", "GPCR", "family 2", "secretin-like", "conserved site", "GPCR family 2", "extracellular hormone receptor domain superfamily", "Vasoactive intestinal polypeptide receptor 2", "7TM", "G-protein coupled receptor 2"], "string_link": "https://string-db.org/network/9606/ENSG00000106018", "synonym": "VPAC2, VPAC2R", "ortholog_mouse": "Vipr2", "ortholog_zebrafish": "vipr2", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 41.18, "sd_percent_ciliated": 2.2089, "z_score": 0.3842, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.92, "sd_percent_ciliated": 4.92, "z_score": 4.92, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.0345, "sd_percent_ciliated": -6.0345, "z_score": -6.0345, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VPS11", "ensembl_id": "ENSG00000280616", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "VPS11 core subunit of CORVET and HOPS complexes [Source:HGNC Symbol,Acc:HGNC:14583]", "omim_id": "608549", "functional_summary": "The HOPS complex is a RAB19 effector functioning in CC and ciliogenesis through a non-lysosomal pathway. VPS41 and VPS11 co-precipitate with the C-terminus of TBC1D4 and this binding is significantly decreased in RAB19 KO cells. RAB19 recruits the HOPS complex to the centrosome and mediates interaction with TBC1D4 to coordi te CC and ciliary membrane growth during primary ciliogenesis(33561422).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane", "reference": "3.3561422E7", "complex_components": ["STX7", "VPS11", "VPS18", "VPS16", "Vps33a", "EEA1", "RAB5A", "VPS39", "TGFBRAP1", "VPS33A", "VPS8", "VPS41"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000280616", "synonym": "PEP5, RNF108", "ortholog_mouse": "Vps11", "ortholog_c_elegans": "vps-11", "ortholog_xenopus": "vps11", "ortholog_zebrafish": "vps11", "ortholog_drosophila": "Vps11", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.7514, "sd_percent_ciliated": 5.7766, "z_score": -0.8793 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 35.5, "sd_percent_ciliated": 35.5, "z_score": 35.5 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.445, "sd_percent_ciliated": -8.445, "z_score": -8.445 } ] }, { "gene": "VPS13B", "ensembl_id": "ENSG00000132549", "overexpression_effects": "Not Reported", "lof_effects": "longer cilia", "percent_ciliated_cells_effects": "Not Reported", "description": "vacuolar protein sorting 13 homolog B [Source:HGNC Symbol;Acc:HGNC:2183]", "omim_id": "607817", "functional_summary": "We speculated that VPS13B mutations may indirectly affect cilia by altering the lipid and protein composition of cilia, leading to some of the distinctive phenotypes in CS. To test this, I treated cultured cells with VPS13B siRNAs and analyzed cilia structure and composition. Apart from observing a wide range of cellular defects including mTORC1 downregulation, increased autophagy, G0 arrest and lysosomal structural defects, I also observed a variety of defects at the levels of the primary cilium. These include reduced levels of the lipid PI(4,5)P2 at the ciliary base, longer cilia and inability to activate the Hedgehog signaling pathway. These results suggest that VPS13B indirectly regulates ciliary membrane composition and function. I also analyzed skin fibroblasts from CS patients and compared them with those of healthy controls. Interestingly, despite lacking the full length protein, patients still show a robust signal corresponding to VPS13B at the Golgi complex, suggesting that they might express alternative isoforms that still can localize to this organelle. However, CS cilia were very similar to controls. Curiously, treatment of CS fibroblasts with VPS13B siRNAs gives rise to a plethora of ciliary defects including Hedgehog inactivation. This supports the existence of shorter, at least partially functional VPS13B isoforms in CS patients. To understand if this situation was general or specific to the skin, I decided to investigate disease-relevant tissues. I derived neural rosettes from induced pluripotent stem cells of a healthy control and a CS patient. Interestingly, neural progenitor cells (NPCs) from CS rosettes presented also longer and abnormal cilia compared to control NPCs, suggesting the occurrence of a ciliary impairment in brain-related tissues. (https://diposit.ub.edu/dspace/handle/2445/199343)", "localization": "Ciliary associated gene, Nucleus", "reference": "https://diposit.ub.edu/dspace/handle/2445/199343", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000132549", "synonym": "BLTP5B, CHS1, COH1", "ortholog_mouse": "Vps13b", "ortholog_xenopus": "vps13b", "ortholog_drosophila": "Vps13B", "screens": [] }, { "gene": "VPS37A", "ensembl_id": "ENSG00000155975", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "VPS37A subunit of ESCRT-I [Source:HGNC Symbol,Acc:HGNC:24928]", "omim_id": "609927", "functional_summary": "VPS37A has localized in basal body,flagella.", "localization": "basal body,flagella, Centrosome, Nucleus", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "https://www.proteinatlas.org/", "complex_components": ["MVB12B", "PDCD6", "PDCD6IP", "TSG101", "VPS28", "VPS37A"], "pfam_ids": "PF07200", "domain_descriptions": ["Modifier of rudimentary", "Modr", "Ubiquitin-conjugating enzyme/RWD-like", "Helix hairpin bin domain superfamily", "ESCRT assembly domain"], "string_link": "https://string-db.org/network/9606/ENSG00000155975", "synonym": "FLJ32642, HCRP1, PQBP2, SPG53", "ortholog_mouse": "Vps37a", "ortholog_xenopus": "vps37a", "ortholog_zebrafish": "vps37a", "ortholog_drosophila": "Vsp37A", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.84, "sd_percent_ciliated": 3.84, "z_score": 3.84, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.8287, "sd_percent_ciliated": -3.8287, "z_score": -3.8287, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VPS37B", "ensembl_id": "ENSG00000139722", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "VPS37B subunit of ESCRT-I [Source:HGNC Symbol,Acc:HGNC:25754]", "omim_id": "610037", "functional_summary": "VPS37B has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["TSG101", "VPS28", "VPS37B", "MVB12B", "PDCD6", "PDCD6IP"], "pfam_ids": "PF07200", "domain_descriptions": ["Modifier of rudimentary", "Modr", "Helix hairpin bin domain superfamily", "ESCRT assembly domain"], "string_link": "https://string-db.org/network/9606/ENSG00000139722", "synonym": "FLJ12750", "ortholog_mouse": "Vps37b", "ortholog_c_elegans": "vps-37", "ortholog_xenopus": "vps37b", "ortholog_zebrafish": "vps37ba, vps37bb", "ortholog_drosophila": "Vps37B", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.2555, "sd_percent_ciliated": -1.2555, "z_score": -1.2555, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VPS37C", "ensembl_id": "ENSG00000167987", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "VPS37C subunit of ESCRT-I [Source:HGNC Symbol,Acc:HGNC:26097]", "omim_id": "610038", "functional_summary": "VPS37C has localized in primary cilia.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["TSG101", "VPS28", "VPS37C", "MVB12B", "PDCD6", "PDCD6IP"], "pfam_ids": "PF07200", "domain_descriptions": ["Modifier of rudimentary", "Modr", "Helix hairpin bin domain superfamily", "ESCRT assembly domain"], "string_link": "https://string-db.org/network/9606/ENSG00000167987", "synonym": "FLJ20847", "ortholog_mouse": "Vps37c", "ortholog_c_elegans": "vps-37", "ortholog_zebrafish": "vps37c", "ortholog_drosophila": "Vps37B", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.7, "sd_percent_ciliated": 2.7, "z_score": 2.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1492, "sd_percent_ciliated": 0.1492, "z_score": 0.1492, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VPS39", "ensembl_id": "ENSG00000166887", "overexpression_effects": "Decreased; Not Reported", "lof_effects": "Increased; Decreased", "percent_ciliated_cells_effects": "Not Reported; Decreased", "description": "VPS39 subunit of HOPS complex [Source:HGNC Symbol,Acc:HGNC:20593]", "omim_id": "612188", "functional_summary": "The HOPS complex subunit VPS39 controls ciliogenesis through autophagy ( 32077937).", "localization": "Ciliary associated gene, Endosome", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "3.2077937E7", "complex_components": ["EEA1", "RAB5A", "VPS11", "VPS16", "VPS18", "VPS39", "HOOK1", "VPS33A", "VPS41"], "pfam_ids": ["PF10366", "PF10367", "PF00780"], "domain_descriptions": ["Clathrin", "heavy chain/VPS", "7-fold repeat", "Citron homology (CNH) domain", "Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1", "Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated zinc finger domain", "Vam6/VPS39/TRAP1 family", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000166887", "synonym": "KIAA0770, VAM6", "ortholog_mouse": "Vps39", "ortholog_c_elegans": "vps-39", "ortholog_xenopus": "vps39", "ortholog_zebrafish": "vps39", "ortholog_drosophila": "Vps39", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 28.3322, "sd_percent_ciliated": 10.2601, "z_score": -1.1724 }, { "dataset": "Breslow2018", "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 50, "sd_percent_ciliated": 50, "z_score": 50 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.1765, "sd_percent_ciliated": -2.1765, "z_score": -2.1765 } ] }, { "gene": "VPS41", "ensembl_id": "ENSG00000006715", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "VPS41 subunit of HOPS complex [Source:HGNC Symbol,Acc:HGNC:12713]", "omim_id": "605485", "functional_summary": "The HOPS complex is a RAB19 effector functioning in CC and ciliogenesis through a non-lysosomal pathway. VPS41 and VPS11 co-precipitate with the C-terminus of TBC1D4 and this binding is significantly decreased in RAB19 KO cells. RAB19 recruits the HOPS complex to the centrosome and mediates interaction with TBC1D4 to coordi te CC and ciliary membrane growth during primary ciliogenesis(33561422).", "localization": "basal body, Cytosol, Endosome", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Ciliary membrane", "reference": "3.3561422E7", "complex_components": ["HOOK1", "VPS41", "HOOK2", "HOOK3", "AKTIP", "VPS11", "VPS16", "VPS18", "VPS33A", "VPS39"], "pfam_ids": ["PF23411", "PF23555", "PF23556"], "domain_descriptions": ["Clathrin", "heavy chain/VPS", "7-fold repeat", "Zinc finger", "RING-type", "Tetratricopeptide-like helical domain superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "Vacuolar protein sorting-associated protein 41", "WD40-repeat-containing domain superfamily", "Vacuolar protein sorting-associated protein Vps41/Vps8"], "string_link": "https://string-db.org/network/9606/ENSG00000006715", "synonym": "HVSP41", "ortholog_mouse": "Vps41", "ortholog_c_elegans": "vps-41", "ortholog_xenopus": "vps41", "ortholog_zebrafish": "vps41", "ortholog_drosophila": "lt", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 2.6237, "z_score": 0.3549, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 60.6959, "z_score": 2.7486, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 8.9153 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 94.4, "z_score": 94.4, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 94.4 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -5.8743, "z_score": -5.8743, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -5.8743 } ] }, { "gene": "VPS45", "ensembl_id": "ENSG00000136631", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "vacuolar protein sorting 45 homolog [Source:HGNC Symbol,Acc:HGNC:14579]", "omim_id": "610035", "functional_summary": "Regulates cilium length and morphology, ciliary and preciliary membrane volume. Interacts with RABS-5 to control periciliary vesicle number, levels of polycystin- 2, fusion and maturation of specific cilium-derived endocytic vesicles and early endosomes (29572244).", "localization": "basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Viral interactions, Protein processing & maturation, Ciliary membrane, Transition zone", "reference": "29463826, 33186545", "complex_components": {}, "pfam_ids": "PF00995", "domain_descriptions": ["Sec1-like protein", "Sec1-like", "domain 2", "Sec1-like superfamily", "Sec1-like", "domain 3a", "Sec1-like", "domain 1"], "string_link": "https://string-db.org/network/9606/ENSG00000136631", "synonym": "H-VPS45, H1, VPS45A, VPS45B", "ortholog_mouse": "Vps45", "ortholog_c_elegans": "vps-45", "ortholog_xenopus": "vps45", "ortholog_zebrafish": "vps45", "ortholog_drosophila": "Vps45", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.59, "sd_percent_ciliated": 8.59, "z_score": 8.59, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.7866, "sd_percent_ciliated": -4.7866, "z_score": -4.7866, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VPS4A", "ensembl_id": "ENSG00000132612", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "vacuolar protein sorting 4 homolog A [Source:HGNC Symbol,Acc:HGNC:13488]", "omim_id": "609982", "functional_summary": "Dy mic component of both centrioles. Regulates centrosome localisation and levels of gamma-tubulin, centriolar satellite stability and ciliogenesis. Rssential for activation of membrane remodeling during cilium extention. Depletion alters centrosome numbers and size (29463826).De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment, with mutations affecting Mutations affected other ESCRT-dependent cellular processes, including regulation of centrosome number, primary cilium morphology, nuclear membrane morphology, chromosome segregation, mitotic spindle formation, and cell cycle progression (33186545)", "localization": "basal body, Cytosol", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Metabolism, T cell biology, Viral interactions, Protein processing & maturation", "reference": "3.2312818E7", "complex_components": {}, "pfam_ids": ["PF09336", "PF04212", "PF17862", "PF00004"], "domain_descriptions": ["ATPase", "AAA-type", "core", "ATPase", "AAA-type", "conserved site", "MIT domain", "Spastin/Vps4", "C-terminal", "P-loop containing nucleoside triphosphate hydrolase", "MIT domain superfamily", "AAA ATPase", "AAA+ lid domain", "Vacuolar protein sorting-associated protein 4", "MIT domain", "Microtubule-severing AAA ATPase", "AAA+ ATPase domain"], "string_link": "https://string-db.org/network/9606/ENSG00000132612", "synonym": "FLJ22197, SKD1, SKD1A, SKD2, VPS4, VPS4-1", "ortholog_mouse": "Vps4a", "ortholog_c_elegans": "vps-4", "ortholog_xenopus": "vps4a", "ortholog_zebrafish": "vps4a", "ortholog_drosophila": "Vps4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.9524, "sd_percent_ciliated": 2.8717, "z_score": -0.3704, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 4.19, "sd_percent_ciliated": 4.19, "z_score": 4.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 2.0873, "sd_percent_ciliated": 2.0873, "z_score": 2.0873, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "VPS50", "ensembl_id": "ENSG00000004766", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "VPS50 subunit of EARP/GARPII complex [Source:HGNC Symbol,Acc:HGNC:25956]", "omim_id": "616465", "functional_summary": "VPS50 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["VPS50", "VPS51", "VPS52", "VPS53"], "pfam_ids": ["PF10475", "PF10474"], "domain_descriptions": ["Vacuolar protein sorting-associated protein 54", "N-terminal", "Syndetin", "Syndetin", "C-terminal"], "string_link": "https://string-db.org/network/9606/ENSG00000004766", "synonym": "CCDC132, DKFZP313I2429, FLJ20097, KIAA1861, VPS54L", "ortholog_mouse": "Vps50", "ortholog_c_elegans": "vps-50", "ortholog_xenopus": "vps50", "ortholog_zebrafish": "vps50", "ortholog_drosophila": "Vps50", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.902, "sd_percent_ciliated": 0.902, "z_score": 0.902, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "VWA3A", "ensembl_id": "ENSG00000175267", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "von Willebrand factor A domain containing 3A [Source:HGNC Symbol,Acc:HGNC:27088]", "functional_summary": "ARMC3, EFCAB6, FAM183A, MYCBPAP, RIBC2 and VWA3A, associated with motile cilia ( 326169).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.2616903E7", "complex_components": {}, "pfam_ids": "PF13768", "domain_descriptions": ["von Willebrand factor", "type A", "von Willebrand factor A-like domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000175267", "synonym": "FLJ40941, FLJ46765", "ortholog_mouse": "Vwa3a", "ortholog_xenopus": "vwa3a", "ortholog_zebrafish": "vwa3a", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.5862, "sd_percent_ciliated": -1.5862, "z_score": -1.5862, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WASF3", "ensembl_id": "ENSG00000132970", "overexpression_effects": "Longer cilia; Increased", "lof_effects": "Unknown; Decreased", "percent_ciliated_cells_effects": "Unknown; Not", "description": "WASP family member 3 [Source:HGNC Symbol,Acc:HGNC:12734]", "functional_summary": "Arp2/3 complex activator. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. Ectopic coexpression of PCARE and WASF3 in ciliated cells results in the remarkable expansion of the ciliary tip. This process was disrupted by small interfering RNA (siRNA)-based down-regulation of an actin regulator, by pharmacological inhibition of actin polymerization, and by the expression of PCARE harboring a retinal dystrophy-associated missense mutation. (32312818); Arp2/3 complex activator. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation (32312818)", "localization": "cilia , transition zone, basal body", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "24302887, 28001338, 33598458, 32055034, 32312818 ,32312818; 24302887, 28001338, 33598458, 32055034 ,32312818", "complex_components": ["NCKAP1", "WASF3", "RAC1"], "pfam_ids": "PF02205", "domain_descriptions": ["WH2 domain", "SCAR/WAVE family"], "string_link": "https://string-db.org/network/9606/ENSG00000132970", "synonym": "KIAA0900, SCAR3, WAVE3", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wasf3", "ortholog_c_elegans": "wve-1", "ortholog_xenopus": "wasf3", "ortholog_zebrafish": "wasf3a, wasf3b", "ortholog_drosophila": "SCAR", "screens": [ { "dataset": "Kim2016", "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.8794, "sd_percent_ciliated": 3.0922, "z_score": -0.7427 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.09, "sd_percent_ciliated": 1.09, "z_score": 1.09 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.2434, "sd_percent_ciliated": -0.2434, "z_score": -0.2434 } ] }, { "gene": "WASHC1", "ensembl_id": "ENSG00000181404", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WASH complex subunit 1 [Source:HGNC Symbol,Acc:HGNC:24361]", "omim_id": "613632", "functional_summary": "BBS1 deficiency results in the failure of T cells to clear F-actin from the centrosomal area, concomitant with the persistence of the centrosomal WASH pool , WASH1 (also known as WASHC1), that sustains the polymerization of new actin filaments, which might account for the i bility of the centrosome to translocate to the immune sy pse (34423835).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology", "reference": "3.4423835E7", "complex_components": ["WASHC1", "WASHC2C", "WASHC3", "WASHC4", "WASHC5", "CAPZA1", "CAPZB", "CCDC22", "CCDC93", "COMMD1", "COMMD10", "COMMD2", "COMMD3", "COMMD4", "COMMD5", "COMMD6", "COMMD7", "COMMD8", "COMMD9", "VPS35L"], "pfam_ids": "PF11945", "domain_descriptions": ["WASH1", "WAHD domain", "WASH1"], "string_link": "https://string-db.org/network/9606/ENSG00000181404", "synonym": "FAM39E, FLJ00038, WASH1", "ortholog_mouse": "Washc1", "ortholog_c_elegans": "ddl-2", "ortholog_xenopus": "washc1", "ortholog_zebrafish": "wash1", "ortholog_drosophila": "wash", "screens": {} }, { "gene": "WASHC5", "ensembl_id": "ENSG00000164961", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WASH complex subunit 5 [Source:HGNC Symbol,Acc:HGNC:28984]", "omim_id": "610657", "functional_summary": "WASHC5 has localized in ciliary tip, basal body, transition zone.", "localization": "cilia, basal body, transition zone", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Protein processing & maturation, Transition zone", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["WASHC1", "WASHC2C", "WASHC3", "WASHC4", "WASHC5", "CAPZA1", "CAPZB", "AP3B1", "ARHGEF1", "ARHGEF2", "CLTC", "DNM2", "DOCK7", "FKBP15", "NEDD4", "PI4K2A", "WASHC2A"], "pfam_ids": "PF10266", "domain_descriptions": ["WASH complex", "subunit strumpellin"], "string_link": "https://string-db.org/network/9606/ENSG00000164961", "synonym": "KIAA0196, SPG8", "ortholog_mouse": "Washc5", "ortholog_c_elegans": "wshc-5", "ortholog_xenopus": "washc5", "ortholog_zebrafish": "washc5", "ortholog_drosophila": "Strump", "screens": {} }, { "gene": "WBP11", "ensembl_id": "ENSG00000084463", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WW domain binding protein 11 [Source:HGNC Symbol,Acc:HGNC:16461]", "omim_id": "618083", "functional_summary": "WBP11 has localized in flagella.", "localization": "flagella, Nucleus", "reference": "https://www.proteinatlas.org/", "complex_components": ["ACIN1", "AGGF1", "BCAS2", "BUB3", "CCAR1", "CCAR2", "CD2BP2", "CDC5L", "CDK11A", "CFAP20", "CHERP", "CIRBP", "CTNNBL1", "CWC15", "DDX17", "DDX23", "DDX42", "DDX46", "DDX5", "DHX15", "DHX9", "DNAJC8", "EFTUD2", "ELAVL1", "FUS", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPAB", "HNRNPC", "HNRNPK", "HNRNPR", "HNRNPU", "HNRNPUL1", "HSPA8", "HTATSF1", "ILF2", "ILF3", "NCBP1", "NCBP2", "NRIP2", "PCBP1", "PHF5A", "PLRG1", "PNN", "PPP1CA", "PPP1R8", "PQBP1", "PRCC", "PRPF19", "PRPF3", "PRPF40A", "PRPF6", "PRPF8", "PUF60", "RBM10", "RBM17", "RBM25", "RBM39", "RBM5", "RBMX", "RNPS1", "SAP30BP", "SART1", "SEC31B", "SF1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SMNDC1", "SNRNP200", "SNRNP70", "SNRPA", "SNRPA1", "SNRPB", "SNRPB2", "SNRPC", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SRRM1", "SRRM2", "SRRT", "SRSF1", "SRSF2", "SRSF3", "SRSF4", "SRSF5", "SRSF6", "SRSF7", "SRSF9", "SUGP1", "SYNCRIP", "TCERG1", "TRA2B", "TRIR", "U2AF1", "U2AF2", "U2SURP", "WBP11", "YBX1", "ZC3H18", "ZNF207"], "pfam_ids": "PF09429", "domain_descriptions": "WW domain binding protein 11", "string_link": "https://string-db.org/network/9606/ENSG00000084463", "synonym": "BUG13, NPWBP, PPP1R165, SIPP1", "ortholog_mouse": "Wbp11", "ortholog_c_elegans": "wbp-11", "ortholog_xenopus": "wbp11", "ortholog_zebrafish": "wbp11", "ortholog_drosophila": "CG2685", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.9251, "sd_percent_ciliated": 3.9796, "z_score": 0.111 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 14.9, "sd_percent_ciliated": 14.9, "z_score": 14.9 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -14.0597, "sd_percent_ciliated": -14.0597, "z_score": -14.0597 } ] }, { "gene": "WDPCP", "ensembl_id": "ENSG00000143951", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WD repeat containing planar cell polarity effector [Source:HGNC Symbol,Acc:HGNC:28027]", "omim_id": "613580", "functional_summary": "MIM: 613580. Also known as C2ORF86, BBS15 or FRITZ. Regulates pla r cell polarity through the modulation of the actin cytoskeleton. Required for recruitment of proteins essential for ciliogenesis to the transition zone, including Sept2, Nphp1, and Mks1, and facilitates the assembly of multiprotein complexes. Mutations have been associated with Bardet-Biedl and and Meckel-Gruber syndromes (24302887, 32055034). Knockdown leads to fewer and shorter cilia and decreses the expression of Septin7 in human sal epithelium, indication that Septin7 could be a target of WDPCP (28001338). Regulates cilia function and beating through activation of MAPK/ERK pathway in the mitochondria of sino sal epithelial cells (33598458).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "29263200, 20671153 ,20671153", "complex_components": {}, "pfam_ids": "PF11768", "domain_descriptions": ["WD40/YVTN repeat-like-containing domain superfamily", "WD repeat-containing and planar cell polarity effector protein Fritz", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000143951", "synonym": "BBS15, C2ORF86, CPLANE5, FRITZ, HFRTZ", "ciliopathy": "Bardet–Biedl Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wdpcp", "ortholog_xenopus": "wdpcp", "ortholog_zebrafish": "wdpcp", "ortholog_drosophila": "frtz", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 27.3, "sd_percent_ciliated": 27.3, "z_score": 27.3, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.4839, "sd_percent_ciliated": -0.4839, "z_score": -0.4839, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR11", "ensembl_id": "ENSG00000120008", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WD repeat domain 11 [Source:HGNC Symbol,Acc:HGNC:13831]", "omim_id": "606417", "functional_summary": "Modulates the Hedgehog (Hh) sig lling pathway and is essential for ciliogenesis. It may be required for cilia extension and growth. Interacts with ciliary components involved in human ciliopathies such as BBSomes and IFT proteins. Shuttles between cilium and nucleus in response to Shh sig lling. Implicated in congenital hypogo dotropic hypogo dism (CHH) and Kallmann syndrome (KS), characterised by delayed puberty and infertility (29263200).", "localization": "cilia, flagella,basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "16957054, 22019273, 24504730, 29134781, 23339108, 23559409, 32323121, 29263200 ,29263200", "complex_components": ["BMI1", "CBX3", "CBX8", "CENPA", "CENPB", "CENPC", "CENPH", "CENPI", "CENPK", "CENPL", "CENPM", "CENPO", "CENPU", "COBLL1", "CUL4A", "DDB1", "DHX38", "FBL", "HSPA5", "HSPA8", "KIF23", "NUP93", "PLPPR3", "RACGAP1", "RING1", "RNF2", "RSF1", "SHCBP1", "SMARCA5", "SRRT", "SSRP1", "SUPT16H", "VIRMA", "WDR11", "WTAP", "ZC3H13", "ZFP91", "Emx1", "GLI3", "C17orf75"], "pfam_ids": ["PF23751", "PF23753", "PF23752"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 11"], "string_link": "https://string-db.org/network/9606/ENSG00000120008", "synonym": "BRWD2, DR11, FLJ10506, HH14, KIAA1351, SRI1, WDR15", "ciliopathy": "Kallmann Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wdr11", "ortholog_c_elegans": "Y110A7A.9", "ortholog_xenopus": "wdr11", "ortholog_zebrafish": "wdr11", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.8276, "z_score": -1.3471, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 21.5153, "z_score": -1.9983, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.781 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.96, "z_score": 3.96, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 3.96 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.3546, "z_score": -3.3546, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.3546 } ] }, { "gene": "WDR18", "ensembl_id": "ENSG00000065268", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WD repeat domain 18 [Source:HGNC Symbol,Acc:HGNC:17956]", "omim_id": "620291", "functional_summary": "Wdr18 is required for Kupffer's vesicle formation and regulation of body asymmetry in zebrafish ( 21876750).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.187675E7", "complex_components": ["LAS1L", "PELP1", "SENP3", "TEX10", "WDR18", "NOL9", "MDN1"], "pfam_ids": ["PF14077", "PF00400"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD repeat-containing protein 18", "C-terminal domain", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein WDR18/Ipi3/RID3", "Quinoprotein alcohol dehydrogenase-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000065268", "synonym": "IPI3", "ortholog_mouse": "Wdr18", "ortholog_c_elegans": "pro-1", "ortholog_xenopus": "wdr18", "ortholog_zebrafish": "wdr18", "ortholog_drosophila": "CG14805", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.2122, "sd_percent_ciliated": 10.3685, "z_score": -0.8235, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 15.7, "sd_percent_ciliated": 15.7, "z_score": 15.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.9034, "sd_percent_ciliated": -2.9034, "z_score": -2.9034, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR19", "ensembl_id": "ENSG00000157796", "overexpression_effects": "Not Reported; Unknown", "lof_effects": "Decreased; Shorter cilia", "percent_ciliated_cells_effects": "Decreased; Reduced cilia numbers", "description": "WD repeat domain 19 [Source:HGNC Symbol,Acc:HGNC:18340]", "omim_id": "608151", "functional_summary": "Also known as IFT144. Retrograde IFT-A protein. Ortholog of C.elegans DYF-2 (16957054). Mutations are associated with a broad spectrum of ciliopathies (24504730) including nephronophthisis, Jeune syndrome (22019273), Sensenbrenner syndrome (29134781), asphyxiating thoracic dysplasia (23339108), reti l dystrophies and Caroli desease (23559409). Mutations can also cause disorganization of in sperm flagella and nonsyndromic asthenoteratospermia (32323121)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Reproduction & sperm, Signaling (Hedgehog, GPCRs, ion channels), Ciliary membrane, Transition zone", "reference": "24183451, 24183449, 30649997, 25205765, 24183451, 28379358, 30320547, 30649997, 22019273, 19430947, 22019273, 23683095 ,22019273; 23683095; 19430947, 22019273", "complex_components": ["IFT122", "IFT140", "TTC21B", "WDR19", "WDR35", "TULP3", "IFT43"], "pfam_ids": ["PF23389", "PF24762", "PF15911", "PF23145"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 19/dyf-2", "Tetratricopeptide-like helical domain superfamily", "WDR19", "WD40 repeat domain", "IF140/IFT172/WDR19", "TPR domain", "IFT121-like", "zinc finger domain"], "string_link": "https://string-db.org/network/9606/ENSG00000157796", "synonym": "CFAP66, DYF-2, FAP66, FLJ23127, IFT144, KIAA1638, NPHP13, ORF26, OSEG6, PWDMP", "ciliopathy": "Cranioectodermal Dysplasia; Nephronophthisis; Senior-Løken Syndrome; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wdr19", "ortholog_c_elegans": "dyf-2", "ortholog_xenopus": "wdr19", "ortholog_zebrafish": "wdr19", "ortholog_drosophila": "Oseg6", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 115, "sd_percent_ciliated": 115, "z_score": 115, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.5973, "sd_percent_ciliated": -0.5973, "z_score": -0.5973, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR27", "ensembl_id": "ENSG00000184465", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WD repeat domain 27 [Source:HGNC Symbol,Acc:HGNC:21248]", "omim_id": "620936", "functional_summary": "WDR27 colocalize with cilia in HK2 cells(28460059).", "localization": "basal body, Nucleus, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "2.8460059E7", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "Quinoprotein alcohol dehydrogenase-like superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 27"], "string_link": "https://string-db.org/network/9606/ENSG00000184465", "synonym": "MGC43690", "ortholog_mouse": "Wdr27", "ortholog_xenopus": "wdr27", "ortholog_zebrafish": "wdr27", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.0947, "sd_percent_ciliated": 0.0947, "z_score": 0.0947, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1569, "sd_percent_ciliated": -1.1569, "z_score": -1.1569, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR31", "ensembl_id": "ENSG00000148225", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "WD repeat domain 31 [Source:HGNC Symbol,Acc:HGNC:21421]", "omim_id": "620951", "functional_summary": "WDR-31, together with RP-2 and ELMD-1 results in ciliary accumulations of IFT Complex B components and KIF17 kinesin, with fewer IFT/BBSome particles traveling along cilia in both anterograde and retrograde directions, suggesting that the IFT/BBSome entry into the cilia and exit from the cilia are impacted(37208194).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "37208194 ,10.1101/2021.06.10.445528", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 31"], "string_link": "https://string-db.org/network/9606/ENSG00000148225", "synonym": "FLJ35921", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wdr31", "ortholog_c_elegans": "wdr-31", "ortholog_zebrafish": "wdr31", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 40.1354, "sd_percent_ciliated": 4.2907, "z_score": 0.2576, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.339, "sd_percent_ciliated": 0.339, "z_score": 0.339, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.0805, "sd_percent_ciliated": -4.0805, "z_score": -4.0805, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR35", "ensembl_id": "ENSG00000118965", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WD repeat domain 35 [Source:HGNC Symbol,Acc:HGNC:29250]", "omim_id": "613602", "functional_summary": "IFT121. IFT complex A component, endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and human and mouse fibroblasts lacking the protein fail to produce cilia. Human and mouse homozygouse mutations in WDR35 cause ciliopathy short-rib polydactyly syndrome (22987818). Heterozygous mutations shown to cause cranioectodermal dysplasia-2. OMIM:613602. Interacts with RagA, mTORC1 activator (30570184)", "localization": "Ciliary associated gene, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "31204173, 31665227, 20817137, 21473986 ,20817137; 21473986", "complex_components": ["IFT122", "IFT140", "TTC21B", "WDR19", "WDR35", "IFT43", "TULP3"], "pfam_ids": ["PF24797", "PF23387", "PF23145", "PF23390"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD repeat protein 35", "WD40-repeat-containing domain superfamily", "Intraflagellar transport protein 122/121 homolog", "IFT80/172/WDR35", "TPR domain", "WDR35", "second beta-propeller domain", "WDR35/TULP4", "N-terminal", "IFT121-like", "zinc finger domain"], "string_link": "https://string-db.org/network/9606/ENSG00000118965", "synonym": "CFAP118, FAP118, IFT121, IFTA1, KIAA1336, MGC33196", "ciliopathy": "Cranioectodermal Dysplasia; Short-rib Thoracic Dysplasia", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wdr35", "ortholog_c_elegans": "ifta-1", "ortholog_xenopus": "wdr35", "ortholog_zebrafish": "wdr35", "ortholog_drosophila": "Oseg4", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 26.6694, "sd_percent_ciliated": 5.7708, "z_score": -1.3739, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 60.2, "sd_percent_ciliated": 60.2, "z_score": 60.2, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.972, "sd_percent_ciliated": -0.972, "z_score": -0.972, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR4", "ensembl_id": "ENSG00000160193", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit [Source:HGNC Symbol,Acc:HGNC:12756]", "omim_id": "605924", "functional_summary": "WDR4 loss-of-function impairs head growth and neurogenesis via aberrant cilia formation, initially caused by disturbed protein and ubiquitin homeostasis ( 39251572).", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration", "reference": "3.9251572E7", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit", "WD40-repeat-containing domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000160193", "synonym": "TRM82, TRMT82, WUHO", "ortholog_mouse": "Wdr4", "ortholog_c_elegans": "wdr-4", "ortholog_xenopus": "wdr4", "ortholog_zebrafish": "wdr4", "ortholog_drosophila": "wuho", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 28.3513, "sd_percent_ciliated": 7.2334, "z_score": -1.1701, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 13.7, "sd_percent_ciliated": 13.7, "z_score": 13.7, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.7874, "sd_percent_ciliated": -2.7874, "z_score": -2.7874, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR44", "ensembl_id": "ENSG00000131725", "overexpression_effects": "Decreased; Not Reported", "lof_effects": "Not Reported; Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WD repeat domain 44 [Source:HGNC Symbol,Acc:HGNC:30512]", "omim_id": "301070", "functional_summary": "Rab11 binding protein, negatively regulates ciliogenesis. Akt phosphorylates WDR44 at Ser342/344 to stabilise it and increase its binding to Rab11, which prevents ciliogenesis. WDR44 depletion promotes binding of Rab11a to Rabin8, which leads to preciliary trafficking and ciliogenesis- initiating events at the mother centriole. Disruption of Akt sig ling causes a switch from Rab11-WDR44 to the Rab11-FIP3-Rabin8 complex which promotes ciliogenesis(31204173) Endosomal protein phosphorylated by Akt at Ser346 (31665227)", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases)", "reference": "30205038, 30377171 ,38191484", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein WDR44/Dgr2"], "string_link": "https://string-db.org/network/9606/ENSG00000131725", "synonym": "DKFZP686L20145, RAB11BP, RPH11, SYM-4", "ciliopathy_classification": "Atypical Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wdr44", "ortholog_c_elegans": "sym-4", "ortholog_xenopus": "wdr44", "ortholog_zebrafish": "wdr44", "ortholog_drosophila": "CG34133", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 39.65, "sd_percent_ciliated": 6.4256, "z_score": 0.1988 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.05, "sd_percent_ciliated": 1.05, "z_score": 1.05 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -1.3479, "sd_percent_ciliated": -1.3479, "z_score": -1.3479 } ] }, { "gene": "WDR47", "ensembl_id": "ENSG00000085433", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported; Decreased", "description": "WD repeat domain 47 [Source:HGNC Symbol,Acc:HGNC:29141]", "omim_id": "615734", "functional_summary": "Wdr47, Camsaps, and Katanin function together for the generation of non-centrosomal microtubule arrays in polarized subcellular compartments(34608154).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion", "reference": "3.4608154E7", "complex_components": {}, "pfam_ids": ["PF17814", "PF00400"], "domain_descriptions": ["WD40 repeat", "LIS1 homology motif", "CTLH", "C-terminal LisH motif", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 47", "TPL/SMU1", "LisH-like dimerisation domain"], "string_link": "https://string-db.org/network/9606/ENSG00000085433", "synonym": "KIAA0893", "ortholog_mouse": "Wdr47", "ortholog_c_elegans": "nmtn-1", "ortholog_xenopus": "wdr47", "ortholog_zebrafish": "wdr47a, wdr47b", "ortholog_drosophila": "CG2812", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 3.8024, "sd_percent_ciliated": 3.8024, "z_score": 3.8024, "classification": "Positive regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR49", "ensembl_id": "ENSG00000174776", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WD repeat domain 49 [Source:HGNC Symbol,Acc:HGNC:26587]", "functional_summary": "WDR49 has localized in cilia.", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat and EF-hand domain-containing protein", "EF-hand domain", "EF-hand domain pair"], "string_link": "https://string-db.org/network/9606/ENSG00000174776", "synonym": "FLJ33620", "ortholog_mouse": "Wdr49", "ortholog_xenopus": "wdr49", "ortholog_drosophila": "WDY", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.56, "sd_percent_ciliated": 3.56, "z_score": 3.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "WDR5", "ensembl_id": "ENSG00000196363", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WD repeat domain 5 [Source:HGNC Symbol,Acc:HGNC:12757]", "functional_summary": "Stabilizes actin architecture to promote multiciliated cell formation (30205038). Regulates FOXJ1 expression to control ciliogenesis at the node and LR patterning. De novo change in patient with CHD and heterotaxy (30377171)", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transcription regulation", "reference": "22326026, 25205765, 25830415, 29742051, 30320547, 30649997, 31451806", "complex_components": ["ASH2L", "DPY30", "KMT2B", "MEN1", "POLR2B", "RBBP5", "WDR5", "HCFC1", "KMT2A", "SERPIND1", "CHD3", "CPSF2", "EFTUD2", "HDAC1", "HDAC2", "KDM1A", "MBD3", "MTA2", "RAN", "RBBP4", "RBBP7", "SAP18", "SAP30", "SIN3A", "SMARCA2", "SMARCA5", "SMARCB1", "SMARCC1", "SMARCC2", "SYMPK", "TAF1", "TAF12", "TAF6", "TAF9", "TBP", "KMT2D", "KAT8", "RNF2", "SETD1A", "HSP90AA1", "HSPA4", "HSPA5", "HSPA8", "OGT", "SIN3B", "SP1", "SUDS3", "CXXC1", "SETD1B", "WDR82", "BOD1", "BOD1L1", "HCFC2", "KDM6A", "KMT2C", "N4BP2", "NCOA6", "PAXIP1", "PPP6R3", "PROSER1", "ZNF281", "PAGR1", "BAP18", "CHD8", "E2F6", "INO80C", "KANSL1", "LAS1L", "MCRS1", "MGAM", "PELP1", "PHF20", "PRPF31", "RUVBL1", "SENP3", "TAF4", "TAF7", "TEX10", "PSIP1", "CUL4A", "DDB1", "DR1", "KAT14", "KAT2A", "MBIP", "SGF29", "TADA2A", "TADA3", "YEATS2", "ZZZ3", "MAP3K7", "POLE3", "POLE4", "UBAP2L", "ZNF335", "KANSL2", "KANSL3", "KDM6B", "CBX3", "L3MBTL2", "MAX", "MGA", "PCGF6", "RING1", "RYBP", "TFDP1", "YAF2"], "pfam_ids": ["PF00400", "PF23761"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat"], "string_link": "https://string-db.org/network/9606/ENSG00000196363", "synonym": "BIG-3, CFAP89, SWD3", "ortholog_mouse": "Wdr5", "ortholog_c_elegans": "wdr-5.1, wdr-5.3", "ortholog_xenopus": "wdr5", "ortholog_zebrafish": "wdr5", "ortholog_drosophila": "wds", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.0313, "sd_percent_ciliated": 7.7582, "z_score": -0.3608 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 13.1, "sd_percent_ciliated": 13.1, "z_score": 13.1 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -21.1793, "sd_percent_ciliated": -21.1793, "z_score": -21.1793 } ] }, { "gene": "WDR54", "ensembl_id": "ENSG00000005448", "overexpression_effects": "No effect", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "No effect", "description": "WD repeat domain 54 [Source:HGNC Symbol,Acc:HGNC:25770]", "omim_id": "620826", "functional_summary": "WDR54 is indeed in the cilia of human RPE1 cells and WDR54 localize to the cilia of sensory neurons of the head and tails in C. elegans(38989623).", "localization": "flagella, cilia, basal body", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8989623E7", "complex_components": {}, "pfam_ids": "PF21031", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 54", "beta-propeller"], "string_link": "https://string-db.org/network/9606/ENSG00000005448", "synonym": "FLJ12953", "ortholog_mouse": "Wdr54", "ortholog_c_elegans": "wdr-54", "ortholog_xenopus": "wdr54", "ortholog_zebrafish": "wdr54", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.82, "sd_percent_ciliated": 3.82, "z_score": 3.82, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.9433, "sd_percent_ciliated": -0.9433, "z_score": -0.9433, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR62", "ensembl_id": "ENSG00000075702", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Increased", "description": "WD repeat domain 62 [Source:HGNC Symbol,Acc:HGNC:24502]", "omim_id": "613583", "functional_summary": "Truncating, frameshift or missense mutations cause primary autosomal recessive microcephaly type 2 (OMIM:613583). A WDR62- CEP170-KIF2A pathway promotes cilium disassembly in neural progenitors (31197141). WDR62 ablation leads to retarded cilium disassembly, long cilium, and delayed cell cycle progression leading to decreased proliferation and premature differentiation of neural progenitor cells (31197141). Localises to mitotic spindle poles with paralog MAPKBP1 (28089251). Localises to the basal body. MIssense mutants localise to basal body but fail to recruit CPAP and IFT88 (31816041)", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Neurogenesis & migration", "reference": "9843573, 24080090, 30060180, 29285825, 29285825, 32128961", "complex_components": {}, "pfam_ids": ["PF24780", "PF00400", "PF24795", "PF24782"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Mitogen-activated protein kinase-binding protein 1", "MABP1/WDR62", "first WD40 domain", "Quinoprotein alcohol dehydrogenase-like superfamily", "WD repeat-containing protein 62", "MABP1/WDR62", "second WD40 domain", "MABP1/WRD62", "coiled-coil domain"], "string_link": "https://string-db.org/network/9606/ENSG00000075702", "synonym": "C19ORF14, DKFZP434J046, FLJ33298, MCPH2", "ortholog_mouse": "Wdr62", "ortholog_c_elegans": "wdr-62", "ortholog_xenopus": "wdr62", "ortholog_zebrafish": "wdr62", "ortholog_drosophila": "Wdr62", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.16, "sd_percent_ciliated": 1.16, "z_score": 1.16, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "WDR83", "ensembl_id": "ENSG00000123154", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WD repeat domain 83 [Source:HGNC Symbol,Acc:HGNC:32672]", "omim_id": "616850", "functional_summary": "WDR83 has localized in basal body.", "localization": "flagella, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["ALYREF", "AQR", "CACTIN", "CDC40", "CDC5L", "CRNKL1", "CWC15", "CWC22", "CWC27", "DDX23", "DDX41", "DDX5", "DHX35", "DHX38", "DHX8", "EFTUD2", "EIF4A3", "ESS2", "FRG1", "GPATCH1", "HNRNPA1", "HNRNPA2B1", "HNRNPA3", "HNRNPC", "HNRNPF", "HNRNPH1", "HNRNPK", "HNRNPM", "HNRNPR", "HNRNPU", "ISY1", "LSM2", "LSM3", "MAGOH", "MTREX", "PABPC1", "PLRG1", "PNN", "PPIE", "PPIL1", "PPIL3", "PPWD1", "PRP4K", "PRPF19", "PRPF6", "PRPF8", "RALY", "RBM22", "RBM8A", "RBMX", "SART1", "SF3A1", "SF3A2", "SF3A3", "SF3B1", "SF3B2", "SF3B3", "SLU7", "SNRNP200", "SNRNP40", "SNRPA1", "SNRPB", "SNRPB2", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "SNW1", "SRRM1", "SRRM2", "SRSF1", "SYF2", "SYNCRIP", "TFIP11", "U2AF1", "WDR83", "XAB2", "ZCCHC8"], "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "G-protein beta WD-40 repeat", "WD40-repeat-containing domain superfamily", "WD repeat domain-containing protein MORG1"], "string_link": "https://string-db.org/network/9606/ENSG00000123154", "synonym": "MORG1", "ortholog_mouse": "Wdr83", "ortholog_c_elegans": "wdr-83", "ortholog_xenopus": "wdr83", "ortholog_zebrafish": "wdr83", "ortholog_drosophila": "CG4935", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 8.07, "sd_percent_ciliated": 8.07, "z_score": 8.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.5163, "sd_percent_ciliated": 1.5163, "z_score": 1.5163, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WDR87", "ensembl_id": "ENSG00000171804", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WD repeat domain 87 [Source:HGNC Symbol,Acc:HGNC:29934]", "omim_id": "620274", "functional_summary": "WDR87 is located in the middle piece of the sperm tail and interacts with CFAP47 to form a complex which is involved in spermatozoa tail assembly(36571501).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "3.6571501E7", "complex_components": {}, "pfam_ids": "PF00400", "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "Quinoprotein alcohol dehydrogenase-like superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000171804", "synonym": "NYD-SP11", "ortholog_mouse": "Wdr87-ps", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.02, "sd_percent_ciliated": 2.02, "z_score": 2.02, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "WDR90", "ensembl_id": "ENSG00000161996", "overexpression_effects": "Increased", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "WD repeat domain 90 [Source:HGNC Symbol,Acc:HGNC:26960]", "omim_id": "618290", "functional_summary": "POC16 in Chlamydomo s, localises to the central core region of the centriole in Chlamydomo s, which correlates with the region of tubulin glutamylation in humans. Recruited after the cartwheel protein CrSAS-6 and before tubulin glutamylation. Localizes to mother and daughter centrioles in human RPE1 cells and is required for ciliogenesis (28781053)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly", "reference": "26912790, 29743191, 30428028, 31116681", "complex_components": {}, "pfam_ids": ["PF23342", "PF05018", "PF00400", "PF23393"], "domain_descriptions": ["WD40 repeat", "CFA20 domain", "Quinoprotein alcohol dehydrogenase-like superfamily", "WD40/YVTN repeat-like-containing domain superfamily", "WD40 repeat", "conserved site", "WD40-repeat-containing domain superfamily", "WD repeat Echinoderm Microtubule-associated Protein-like", "WDR90", "4th beta-propeller domain", "WDR90/POC16", "second beta-propeller domain"], "string_link": "https://string-db.org/network/9606/ENSG00000161996", "synonym": "C16ORF15, C16ORF16, C16ORF17, C16ORF18, C16ORF19, FLJ36483, KIAA1924, POC16", "ortholog_mouse": "Wdr90", "ortholog_xenopus": "wdr90", "ortholog_zebrafish": "wdr90", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.13, "sd_percent_ciliated": 0.13, "z_score": 0.13, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "WDR93", "ensembl_id": "ENSG00000140527", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WD repeat domain 93 [Source:HGNC Symbol,Acc:HGNC:26924]", "omim_id": "619891", "functional_summary": "The avian influenza virus that targets ciliated cells modulates the expression of WDR93, a central ciliary apparatus C1d projection component ( 37621660).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "3.762166E7", "complex_components": {}, "pfam_ids": "PF21030", "domain_descriptions": ["NADH dehydrogenase ubiquinone Fe-S protein 4 mitochondrial-like", "WD40/YVTN repeat-like-containing domain superfamily", "WD40-repeat-containing domain superfamily", "WD repeat-containing protein 93 beta propeller"], "string_link": "https://string-db.org/network/9606/ENSG00000140527", "synonym": "C1D-87, CFAP297, FAP297", "ortholog_mouse": "Wdr93", "ortholog_xenopus": "wdr93", "ortholog_zebrafish": "wdr93", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.25, "sd_percent_ciliated": 1.25, "z_score": 1.25, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.406, "sd_percent_ciliated": -1.406, "z_score": -1.406, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WFDC2", "ensembl_id": "ENSG00000101443", "overexpression_effects": "Unknown", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Unknown", "description": "WAP four-disulfide core domain 2 [Source:HGNC Symbol;Acc:HGNC:15939]", "omim_id": "617548", "functional_summary": "Deleting Wfdc2 in mice causes perinatal death due to respiratory failure soon after birth. Wfdc2-deficient neonatal mice have lung atelectasis of variable magnitude and at various locations. This phenotype is likely caused by damage to cilia, elimination of mature club cells in the tracheobronchial region and impairment of the processing of surfactants in AECIIs. Taken together, these results suggest that, in vivo, Wfdc2 plays critical roles in multiple aspects of lung function: it not only promotes mucociliary clearance but also confers anti-inflammatory activity and reduces surface tension(PMID: 31562139).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.1562139E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101443", "synonym": "DJ461P17.6; EDDM4; HE4; WAP5", "ortholog_mouse": "Wfdc2", "ortholog_xenopus": "wfdc2", "ortholog_zebrafish": "wfdc2", "screens": [] }, { "gene": "WHRN", "ensembl_id": "ENSG00000095397", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "whirlin [Source:HGNC Symbol,Acc:HGNC:16361]", "omim_id": "607928", "functional_summary": "DFNB31/whirlin. PDZ scaffold protein. Mutated in autosomal recessive non-syndromic deafness type 31 (12833159) and Usher syndrome type 2D (PMID:17171570) in humans (OMIM 607928). Only the whirlin long isoform (with an additio l N-termi l PDZ domain) is expressed in the reti , the reti is affected if this extra PDZ domain is mutated (20502675). Interacts directly with USH2A and VLGR1 in the connecting cilium of photoreceptor cells (16434480). Colocalizes with MPP1 in the reti at the outer limiting membrane, at the outer sy ptic layer and at the basal bodies and the ciliary axoneme of the connecting cilium of the photoreceptors (17584769). Interacts with L-type calcium channel subunit Ca(v)1.3 (alpha(1D) at synpase in reti (19959638). Interacts with RPGR(ORF15) in the photoreceptors (22323458)", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "12833159, 16434480, 26675238, 17171570, 17584769, 19959638, 22323458, 20502675", "complex_components": ["ADGRV1", "PDZD7", "USH2A", "WHRN", "USH1G"], "pfam_ids": "PF00595", "domain_descriptions": ["PDZ domain", "PDZ superfamily", "Whirlin", "harmonin_N-like domain 1", "Sensory Perception USH2 Complex Protein", "Whirlin", "harmonin_N-like domain 2"], "string_link": "https://string-db.org/network/9606/ENSG00000095397", "synonym": "CIP98, DFNB31, PDZD7B, USH2D", "ortholog_mouse": "Whrn", "ortholog_xenopus": "whrn", "ortholog_zebrafish": "whrna, whrnb", "ortholog_drosophila": "dysc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "WIF1", "ensembl_id": "ENSG00000156076", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WNT inhibitory factor 1 [Source:HGNC Symbol,Acc:HGNC:18081]", "omim_id": "605186", "functional_summary": "Microarray a lysis of NP and IT tissues revealed differential gene expression of Wnt pathway genes revealed that down-regulation of the Wnt inhibitor WIF1and differential expression of several target genes of Wnt/β-catenin sig ling, such as WISP1 by ( 28059551).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.8059551E7", "complex_components": {}, "pfam_ids": ["PF02019", "PF21700", "PF12661", "PF07974"], "domain_descriptions": ["EGF-like domain", "WIF domain", "EGF-like", "conserved site", "Wnt inhibitory factor (WIF)-1", "WIF domain superfamily", "Developmental Signaling Modulators", "EGF-like domain", "extracellular"], "string_link": "https://string-db.org/network/9606/ENSG00000156076", "ortholog_mouse": "Wif1", "ortholog_xenopus": "wif1", "ortholog_zebrafish": "wif1", "ortholog_drosophila": "shf", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.5766, "sd_percent_ciliated": 3.2134, "z_score": 0.0687 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.308, "sd_percent_ciliated": 0.308, "z_score": 0.308 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.0167, "sd_percent_ciliated": 0.0167, "z_score": 0.0167 } ] }, { "gene": "WNT1", "ensembl_id": "ENSG00000125084", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Wnt family member 1 [Source:HGNC Symbol,Acc:HGNC:12774]", "omim_id": "164820", "functional_summary": "Using the Kif3af/f ,Wnt1-Cre ciliopathic mouse model to prevent Shh sig l transduction by means of the loss of primary cilia in neural crest cells, mesenchymal Shh activity is necessary for gland development ( 29532549).", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Transcription regulation", "reference": "2.9532549E7", "complex_components": ["RYK", "WNT1"], "pfam_ids": "PF00110", "domain_descriptions": ["Wnt", "Wnt-1 protein", "Wnt protein", "conserved site", "Wnt", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000125084", "synonym": "INT1", "ortholog_mouse": "Wnt1", "ortholog_xenopus": "wnt1", "ortholog_zebrafish": "wnt1", "ortholog_drosophila": "wg", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.334, "z_score": 0.8889, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 54.3199, "z_score": 1.9761, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 1.2565 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0 }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1691, "z_score": 0.1691, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": 0.1691 } ] }, { "gene": "WNT11", "ensembl_id": "ENSG00000085741", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Wnt family member 11 [Source:HGNC Symbol,Acc:HGNC:12776]", "omim_id": "603699", "functional_summary": "Nlz1 contributes to motile cilia formation by positively regulating Wnt11/presumed non-canonical Wnt sig ling ( 26327644).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "2.6327644E7", "complex_components": {}, "pfam_ids": "PF00110", "domain_descriptions": ["Wnt", "Wnt protein", "conserved site", "Wnt", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000085741", "ortholog_mouse": "Wnt11", "ortholog_c_elegans": "lin-44", "ortholog_xenopus": "wnt11", "ortholog_zebrafish": "wnt11, wnt11f2", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.1159, "sd_percent_ciliated": 0.1159, "z_score": 0.1159, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WNT3", "ensembl_id": "ENSG00000277641", "overexpression_effects": "No effect", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "Wnt family member 3 [Source:HGNC Symbol,Acc:HGNC:12782]", "omim_id": "165330", "functional_summary": "WNT3A may also act by increasing the number, strength, or coherence of beating cilia ( 36878953).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Neurogenesis & migration, Signaling (Hedgehog, GPCRs, ion channels), Axon guidance & growth", "reference": "3.6878953E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000277641", "synonym": "INT4, MGC131950, MGC138321, MGC138323", "ortholog_mouse": "Wnt3", "ortholog_xenopus": "LOC100487954, wnt3", "ortholog_zebrafish": "wnt3", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.3473, "z_score": 0.5809, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 46.8493, "z_score": 1.071, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 10.9556 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.119, "z_score": 0.119, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.119 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.5283, "z_score": -3.5283, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.5283 } ] }, { "gene": "WNT3A", "ensembl_id": "ENSG00000154342", "overexpression_effects": "No effect", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "Wnt family member 3A [Source:HGNC Symbol,Acc:HGNC:15983]", "omim_id": "606359", "functional_summary": "Wnt3a may also modulate the symmetry-breaking activity of mechanosensory cilia in the node. Wnt3a links the segmentation clock and AP axis elongation with key left-determining events, suggesting that Wnt3a is an integral component of the trunk organizer ( 16291790). Wnt3a treatment promotes primary ciliogenesis in hTERT-RPE cells ( 32023461).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, Transcription regulation", "reference": "16291790 , 32023461", "complex_components": ["RYK", "WNT3A"], "pfam_ids": "PF00110", "domain_descriptions": ["Wnt", "Wnt-3 protein", "Wnt protein", "conserved site", "Wnt", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000154342", "ortholog_mouse": "Wnt3a", "ortholog_c_elegans": "cwn-1", "ortholog_xenopus": "wnt3a", "ortholog_zebrafish": "wnt3a", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.9081, "sd_percent_ciliated": 1.9995, "z_score": -0.0123, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 3.2, "sd_percent_ciliated": 3.2, "z_score": 3.2, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.0001, "sd_percent_ciliated": 0.0001, "z_score": 0.0001, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WNT5A", "ensembl_id": "ENSG00000114251", "overexpression_effects": "Decreased", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "Wnt family member 5A [Source:HGNC Symbol,Acc:HGNC:12784]", "omim_id": "164975", "functional_summary": "WNT5A has localized in primary cilia.", "localization": "Ciliary associated gene, Microtubules", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Viral interactions, Protein processing & maturation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, Axon guidance & growth, ECM & connective tissue, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF00110", "domain_descriptions": ["Wnt", "Wnt protein", "conserved site", "Wnt", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000114251", "synonym": "HWNT5A", "ortholog_mouse": "Wnt5a", "ortholog_c_elegans": "cwn-2", "ortholog_xenopus": "wnt5a", "ortholog_zebrafish": "wnt5a", "ortholog_drosophila": "Wnt5", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 4.7038, "z_score": 1.0044, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 53.4328, "z_score": 1.8687, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 2.1903 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.77, "z_score": 0.77, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 0.77 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.8468, "z_score": -3.8468, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -3.8468 } ] }, { "gene": "WNT5B", "ensembl_id": "ENSG00000111186", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Wnt family member 5B [Source:HGNC Symbol,Acc:HGNC:16265]", "omim_id": "606361", "functional_summary": "Opposing gradients of Wnt5a and Wnt5b and of their Sfrp inhibitors, together with intercellular sig ling via PCP proteins, polarize node cells along the anterior-posterior axis for breaking of left-right symmetry ( 28292423).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue", "reference": "2.8292423E7", "complex_components": {}, "pfam_ids": "PF00110", "domain_descriptions": ["Wnt", "Wnt protein", "conserved site", "Wnt", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000111186", "ortholog_mouse": "Wnt5b", "ortholog_c_elegans": "cwn-2", "ortholog_xenopus": "wnt5b", "ortholog_zebrafish": "wnt5b", "ortholog_drosophila": "Wnt5", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 35.2139, "sd_percent_ciliated": 6.1353, "z_score": -0.3387 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 2.72, "sd_percent_ciliated": 2.72, "z_score": 2.72 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -4.414, "sd_percent_ciliated": -4.414, "z_score": -4.414 } ] }, { "gene": "WNT8A", "ensembl_id": "ENSG00000061492", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Wnt family member 8A [Source:HGNC Symbol,Acc:HGNC:12788]", "omim_id": "606360", "functional_summary": "Wnt8a R levels were increased in EFHC1b morphant ectodermal explants and intact embryos, a lyzed prior to the on-set of ciliogenesis ( 26783883).", "localization": "basal body", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "2.6783883E7", "complex_components": {}, "pfam_ids": "PF00110", "domain_descriptions": ["Wnt", "Wnt-8 protein", "Wnt protein", "conserved site", "Protein Wnt-8A/8C", "Wnt", "C-terminal domain"], "string_link": "https://string-db.org/network/9606/ENSG00000061492", "synonym": "WNT8D", "ortholog_mouse": "Wnt8a", "ortholog_xenopus": "wnt8a", "ortholog_zebrafish": "wnt8a", "ortholog_drosophila": "wntD", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 48.3012, "sd_percent_ciliated": 0.3172, "z_score": 1.2469 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.4663, "sd_percent_ciliated": -3.4663, "z_score": -3.4663 } ] }, { "gene": "WRAP73", "ensembl_id": "ENSG00000116213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported; Decreased", "percent_ciliated_cells_effects": "Not Reported; Decreased", "description": "WD repeat containing, antisense to TP73 [Source:HGNC Symbol,Acc:HGNC:12759]", "omim_id": "606040", "functional_summary": "WDR8. Centriolar satellite and centriole-associated protein. Interacts with centriolar satellite proteins SSX2IP and PCM1 and centriolar proximal end component Cep135. Promotes ciliary vesicle docking during ciliogenesis. (26675238).", "localization": "Ciliary associated gene, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "20179356 ,26675238", "complex_components": {}, "pfam_ids": ["PF00400", "PF07676"], "domain_descriptions": ["WD40 repeat", "WD40/YVTN repeat-like-containing domain superfamily", "Centrosome-associated WD domain-containing protein", "WD40-repeat-containing domain superfamily", "Quinoprotein amine dehydrogenase", "beta chain-like", "WD40-like beta propeller"], "string_link": "https://string-db.org/network/9606/ENSG00000116213", "synonym": "WDR8", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wrap73", "ortholog_xenopus": "wrap73", "ortholog_zebrafish": "wrap73", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.68, "sd_percent_ciliated": 1.68, "z_score": 1.68, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.0103, "sd_percent_ciliated": -3.0103, "z_score": -3.0103, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WT1", "ensembl_id": "ENSG00000184937", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "WT1 transcription factor [Source:HGNC Symbol,Acc:HGNC:12796]", "omim_id": "607102", "functional_summary": "Wtip sig ling in conjunction with WT1 is essential for proepicardial organ specification in the zebrafish heart ( 27484451).", "localization": "basal body, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "2.7484451E7", "complex_components": {}, "pfam_ids": ["PF00096", "PF02165"], "domain_descriptions": ["Wilm's tumour protein", "N-terminal", "Zinc finger C2H2-type", "Zinc finger C2H2 superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000184937", "synonym": "AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1", "ortholog_mouse": "Wt1", "ortholog_xenopus": "wt1", "ortholog_zebrafish": "wt1a, wt1b", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": 3.9984, "z_score": 0.7842, "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 58.8277, "z_score": 2.5223, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 0.4864 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.93, "z_score": 1.93, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.93 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.4342, "z_score": -1.4342, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -1.4342 } ] }, { "gene": "WTIP", "ensembl_id": "ENSG00000142279", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "WT1 interacting protein [Source:HGNC Symbol,Acc:HGNC:20964]", "omim_id": "614790", "functional_summary": "Pk3 may involve Wilms tumor protein 1-interacting protein (Wtip), which physically associates with and cooperates with Pk3 to regulate ciliogenesis(27062996).", "localization": "cilia, Nucleus, P-body, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation", "reference": "2.7062996E7", "complex_components": ["RARA", "WTIP"], "pfam_ids": "PF00412", "domain_descriptions": ["Zinc finger", "LIM-type", "Ajuba-like", "Ajuba-like", "LIM domain 1", "Ajuba-like", "LIM domain 2", "Ajuba-like", "LIM domain 3"], "string_link": "https://string-db.org/network/9606/ENSG00000142279", "ortholog_mouse": "Wtip", "ortholog_xenopus": "wtip", "ortholog_zebrafish": "wtip", "ortholog_drosophila": "jub", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.54, "sd_percent_ciliated": 2.54, "z_score": 2.54, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.3251, "sd_percent_ciliated": 0.3251, "z_score": 0.3251, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WWP1", "ensembl_id": "ENSG00000123124", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported; No effect", "percent_ciliated_cells_effects": "Not Reported; No effect", "description": "WW domain containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol,Acc:HGNC:17004]", "omim_id": "602307", "functional_summary": "The ciliary E3, Wwp1, binds Ptch1 and localizes to cilia at the basal state. Activation of sig ling removes both Ptch1 and Wwp1 from cilia, thus providing an elegant mechanism for Ptch1 to regulate ciliary Smo levels(34161574).", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "3.4161574E7", "complex_components": ["HIVEP3", "RUNX2", "WWP1"], "pfam_ids": ["PF00632", "PF00168", "PF00397"], "domain_descriptions": ["C2 domain", "HECT domain", "WW domain", "E3 ubiquitin-protein ligase", "SMURF1 type", "C2 domain superfamily", "HECT", "E3 ligase catalytic domain", "WW domain superfamily", "E3 ubiquitin-protein ligase"], "string_link": "https://string-db.org/network/9606/ENSG00000123124", "synonym": "AIP5, DKFZP434D2111", "ortholog_mouse": "Wwp1", "ortholog_c_elegans": "wwp-1", "ortholog_xenopus": "wwp1", "ortholog_drosophila": "Su(dx)", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 37.0172, "sd_percent_ciliated": 5.8197, "z_score": -0.1202, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.07, "sd_percent_ciliated": 1.07, "z_score": 1.07, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -6.9018, "sd_percent_ciliated": -6.9018, "z_score": -6.9018, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "WWTR1", "ensembl_id": "ENSG00000018408", "overexpression_effects": "Not Reported", "lof_effects": "Shorter cilia", "percent_ciliated_cells_effects": "Decreased", "description": "WW domain containing transcription regulator 1 [Source:HGNC Symbol;Acc:HGNC:24042]", "functional_summary": "Cells lining the cysts carry fewer and shorter cilia and the expression of several genes associated with glomerulocystic kidney disease (Ofd1 and Tsc1) or encoding proteins involved in cilia structure and/or function (Tg737, Kif3a, and Dctn5) is decreased in Wwtr1−/− kidneys. The loss of cilia integrity and the down-regulation of Dctn5, Kif3a, Pkhd1 and Ofd1 mRNA expression can be recapitulated in a renal CD epithelial cell line, mIMCD3, by reducing Wwtr1 protein levels using siRNA. Thus, Wwtr1 is critical for the integrity of renal cilia and its absence in mice leads to the development of renal cysts, indicating that Wwtr1 may represent a candidate gene for polycystic kidney disease in humans(PMID: 17251353).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "17251353 ,25849865", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000018408", "synonym": "DKFZP586I1419; TAZ", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Wwtr1", "ortholog_c_elegans": "yap-1", "ortholog_xenopus": "wwtr1", "ortholog_zebrafish": "wwtr1", "ortholog_drosophila": "yki", "screens": [] }, { "gene": "XAB2", "ensembl_id": "ENSG00000076924", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "XPA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:14089]", "omim_id": "610850", "functional_summary": "The impact of mRNA splicing on cilia assembly after mitosis of the cell cycle. Splicing regulators SON and XAB2 play an important role in mitosis exit, and thus affect ciliogenesis in G1/G0 phases. The pivotal role of mRNA splicing regulators in cilia assembly and underscores the importance of mitotic regulation in ciliogenesis(PMID: 30460047).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.0460047E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000076924", "synonym": "HCNP; HCRN; NTC90; SYF1", "ortholog_mouse": "Xab2", "ortholog_c_elegans": "syf-1", "ortholog_xenopus": "xab2", "ortholog_zebrafish": "xab2", "ortholog_drosophila": "fand", "screens": [] }, { "gene": "XBP1", "ensembl_id": "ENSG00000100219", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported; Increased", "percent_ciliated_cells_effects": "Not Reported; Increased", "description": "X-box binding protein 1 [Source:HGNC Symbol,Acc:HGNC:12801]", "omim_id": "194355", "functional_summary": "Modulating ER chaperone function through XBP1 activity improved Pkd in a murine model of PC1, suggesting therapeutic targeting of hypomorphic mutations ( 36270750).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Cardiac & muscle development, ECM & connective tissue, Transcription regulation", "reference": "3.627075E7", "complex_components": {}, "pfam_ids": ["PF07716", "PF00170"], "domain_descriptions": ["Basic-leucine zipper domain", "Basic-leucine zipper domain superfamily", "Endoplasmic Reticulum Stress-Regulated Transcription Factor"], "string_link": "https://string-db.org/network/9606/ENSG00000100219", "synonym": "XBP2", "ortholog_mouse": "Xbp1", "ortholog_c_elegans": "xbp-1", "ortholog_xenopus": "xbp1", "ortholog_zebrafish": "xbp1", "ortholog_drosophila": "Xbp1", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 31.189, "sd_percent_ciliated": 2.7938, "z_score": -0.8263, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.9365, "sd_percent_ciliated": -3.9365, "z_score": -3.9365, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "XIAP", "ensembl_id": "ENSG00000101966", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Decreased", "description": "X-linked inhibitor of apoptosis [Source:HGNC Symbol;Acc:HGNC:592]", "omim_id": "300079", "functional_summary": "Profibrotic stimuli disrupt primary cilia on quiescent hepatic stellate cells (HSCs) by inducing XIAP-mediated ubiquitination and proteasomal degradation of IFT88. This contributes to HSC activation and liver fibrosis. Primary cilia exist on multiple cell types in the liver, but only cilia present on HSCs disassemble during liver fibrosis. TGF-β enhances XIAP-mediated ubiquitination of IFT88, promoting its proteasomal degradation. Blocking XIAP-mediated IFT88 degradation ablates TGF-β-induced HSC activation(PMID: 38351372).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8351372E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000101966", "synonym": "API3; BIRC4; HILP; ILP-1", "ortholog_mouse": "Xiap", "ortholog_xenopus": "xiap", "ortholog_zebrafish": "xiap", "ortholog_drosophila": "Diap1, Diap2", "screens": [] }, { "gene": "XPNPEP3", "ensembl_id": "ENSG00000196236", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "X-prolyl aminopeptidase 3 [Source:HGNC Symbol,Acc:HGNC:28052]", "omim_id": "613553", "functional_summary": "Mitochondrial protein expressed specifically in distal convoluted tubule and cortical collecting duct cells. Homozygous frameshift and splice-site mutations cause an autosomal recessive nephronophisis-like nephropathy in humans (OMIM:613553), 20179356. targeted to mitochondria by an amino- termi l mitochondrial sig l sequence. Has N-termi l proline cleavage activity. E.coli ortholog can can efficiently cleave CEP290/NPHP6, ALMS1, and LRRC50 N-terminus. Cleavage of N-terminus of LRRC50 is essential for normal gastrulation in zebrafish ( 20179356)", "localization": "Ciliary associated gene, Mitochondria, Lysosomes", "functional_category": "Ciliary assembly/disassembly, T cell biology, Protein processing & maturation", "reference": "25849865, 26967905, 20179356 ,20179356", "complex_components": ["TNF", "TNFRSF1B", "XPNPEP3"], "pfam_ids": ["PF05195", "PF00557"], "domain_descriptions": ["Peptidase M24", "Aminopeptidase P", "N-terminal", "Creatinase/Aminopeptidase P/Spt16", "N-terminal", "Creatinase/aminopeptidase-like", "Xaa-Pro dipeptidase-like"], "string_link": "https://string-db.org/network/9606/ENSG00000196236", "synonym": "APP3, ICP55, NPHPL1", "ciliopathy": "Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Xpnpep3", "ortholog_c_elegans": "icpp-55", "ortholog_xenopus": "xpnpep3", "ortholog_zebrafish": "xpnpep3", "ortholog_drosophila": "CG32454, CG9581", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 2.56, "sd_percent_ciliated": 2.56, "z_score": 2.56, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -7.4872, "sd_percent_ciliated": -7.4872, "z_score": -7.4872, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "XPO1", "ensembl_id": "ENSG00000082898", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "exportin 1 [Source:HGNC Symbol,Acc:HGNC:12825]", "omim_id": "602559", "functional_summary": "XPO1 has localized in cilia.", "localization": "cilia, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, T cell biology, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": ["RAN", "SNUPN", "XPO1", "AURKB", "BIRC5", "NCBP1", "NCBP2", "PHAX", "NMD3", "RANBP3"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000082898", "synonym": "CRM-1, CRM1, EMB", "ortholog_mouse": "Emb, Xpo1", "ortholog_c_elegans": "xpo-1", "ortholog_xenopus": "emb, xpo1", "ortholog_zebrafish": "emb, xpo1a, xpo1b", "ortholog_drosophila": "emb", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 44.3293, "sd_percent_ciliated": 2.8956, "z_score": 0.7657 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 9.75, "sd_percent_ciliated": 9.75, "z_score": 9.75 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.0207, "sd_percent_ciliated": -3.0207, "z_score": -3.0207 } ] }, { "gene": "YAP1", "ensembl_id": "ENSG00000137693", "overexpression_effects": "Increased", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Decreased", "description": "Yes1 associated transcriptional regulator [Source:HGNC Symbol,Acc:HGNC:16262]", "omim_id": "606608", "functional_summary": "Transcriptio l co-activator with TAZ. Knockdown of YAP does not inhibiti ciliogenesis( 25367221) but is sufficient to induce ciliogenesis, whereas YAP/TAZ hyperactivation suppresses serum starvation- mediated ciliogenesis ( 25849865). Cytoplasmic retention of YAP/TAZ correlates with active ciliogenesis either in spatially confined cells or in cells treated with an actin filament destabilizer ( 25849865). Mutations in NEK8/NPHP9 affect YAP nuclear localisation, with different mutations having different effects, leading to major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation ( 26967905)", "localization": "Ciliary associated gene, Cytosol, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, T cell biology, Neurogenesis & migration, Cardiac & muscle development, Transcription regulation", "reference": "3.3103737E7", "complex_components": ["AXIN1", "CTNNB1", "SETD7", "YAP1", "WWTR1", "TBX5", "PRDM4", "MYC", "SBNO1", "TEAD4", "YES1"], "pfam_ids": ["PF00397", "PF15238"], "domain_descriptions": ["WW domain", "WW domain superfamily", "Yes-associated protein 1", "TEAD interating region 3", "omega loop"], "string_link": "https://string-db.org/network/9606/ENSG00000137693", "synonym": "YAP-1, YAP65", "ortholog_mouse": "Yap1", "ortholog_c_elegans": "yap-1", "ortholog_xenopus": "yap1", "ortholog_zebrafish": "yap1", "ortholog_drosophila": "yki", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 49.2761, "sd_percent_ciliated": 0.4194, "z_score": 1.3651 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 12.9, "sd_percent_ciliated": 12.9, "z_score": 12.9 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -8.1735, "sd_percent_ciliated": -8.1735, "z_score": -8.1735 } ] }, { "gene": "YBX2", "ensembl_id": "ENSG00000288504", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Y-box binding protein 2 [Source:HGNC Symbol,Acc:HGNC:17948]", "omim_id": "611447", "functional_summary": "Ckb and Ybx2 are involved in the interaction with Ribc2 and are necessary for the ciliary beating of multi-cilia(36508087).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Reproduction & sperm", "reference": "3.6508087E7", "complex_components": ["PAIP1", "YBX2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000288504", "synonym": "CONTRIN, CSDA3, MSY2", "ortholog_mouse": "Ybx2", "ortholog_c_elegans": "cey-1, cey-2, cey-3, cey-4", "ortholog_xenopus": "ybx2", "ortholog_drosophila": "yps", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 39.8479, "sd_percent_ciliated": 4.9565, "z_score": 0.2228, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.305, "sd_percent_ciliated": 0.305, "z_score": 0.305, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.3301, "sd_percent_ciliated": -1.3301, "z_score": -1.3301, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "YIF1B", "ensembl_id": "ENSG00000167645", "overexpression_effects": "Not Reported", "lof_effects": "Not Clearly Reported; Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "Yip1 interacting factor homolog B, membrane trafficking protein [Source:HGNC Symbol,Acc:HGNC:30511]", "omim_id": "619109", "functional_summary": "YIF1B mutations cause a post- tal neurodevelopmental syndrome associated with Golgi and primary cilium alterations ( 33103737)", "localization": "Ciliary associated gene, Lysosomes", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation", "reference": "24585447, 29992973 ,25613900; 33103737", "complex_components": {}, "pfam_ids": "PF03878", "domain_descriptions": "Yif1 family", "string_link": "https://string-db.org/network/9606/ENSG00000167645", "synonym": "FINGER8", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Yif1b", "ortholog_c_elegans": "yif-1", "ortholog_xenopus": "yif1b", "ortholog_zebrafish": "yif1b", "ortholog_drosophila": "Yif1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0.19, "sd_percent_ciliated": 0.19, "z_score": 0.19, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.663, "sd_percent_ciliated": 0.663, "z_score": 0.663, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "YWHAH", "ensembl_id": "ENSG00000128245", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta [Source:HGNC Symbol,Acc:HGNC:12853]", "omim_id": "113508", "functional_summary": "Crumbs-associated Par3/Par6/aPKC polarity cassette localizes to cilia and regulates ciliogenesis and there appears to be an important role for the polarity-regulating 14-3-3 proteins in this process (15324661).", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Trafficking (BBSome, small GTPases, vesicular transport, ATPases), Actin & cytoskeleton regulation, Neurogenesis & migration, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "1.5324661E7", "complex_components": ["CDC37", "HSP90AA1", "HSP90AB1", "HSPA4", "MAP2K5", "MAP3K3", "MARK2", "PDRG1", "PFDN2", "TRAF7", "YWHAB", "YWHAE", "YWHAG", "YWHAH", "YWHAQ", "YWHAZ", "NRIP1", "NR3C1", "PTH1R", "CTNNB1", "HDAC7", "Kcnk18"], "pfam_ids": "PF00244", "domain_descriptions": ["14-3-3 protein", "14-3-3 protein", "conserved site", "14-3-3 domain", "14-3-3 domain superfamily"], "string_link": "https://string-db.org/network/9606/ENSG00000128245", "synonym": "YWHA1", "ortholog_mouse": "Ywhah", "ortholog_c_elegans": "ftt-2", "ortholog_xenopus": "ywhah", "ortholog_zebrafish": "ywhah", "ortholog_drosophila": "14-3-3ζ", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 34.4447, "sd_percent_ciliated": 9.4834, "z_score": -0.4319, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.78, "sd_percent_ciliated": 0.78, "z_score": 0.78, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.0066, "sd_percent_ciliated": 1.0066, "z_score": 1.0066, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZBBX", "ensembl_id": "ENSG00000169064", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger B-box domain containing [Source:HGNC Symbol,Acc:HGNC:26245]", "functional_summary": "ZBBX ,Foxj1-induced genes, localized along the extracellular shafts of the motile cilia (25139857).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "25139857 ,33771330", "complex_components": {}, "pfam_ids": "PF22586", "domain_descriptions": "Zinc finger B-box domain-containing protein", "string_link": "https://string-db.org/network/9606/ENSG00000169064", "synonym": "FLJ23049", "ciliopathy_classification": "Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Zbbx", "ortholog_xenopus": "zbbx", "ortholog_zebrafish": "zbbx", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.99, "sd_percent_ciliated": 3.99, "z_score": 3.99, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.6859, "sd_percent_ciliated": -2.6859, "z_score": -2.6859, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZBTB17", "ensembl_id": "ENSG00000116809", "overexpression_effects": "Not Reported", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "zinc finger and BTB domain containing 17 [Source:HGNC Symbol;Acc:HGNC:12936]", "omim_id": "604084", "functional_summary": "Activation of Smo induces translocation of Miz1 to the primary cilia together with Smo and Gli2. Furthermore, Miz1 is localized to the nucleus upon Hh activation in a Smo-dependent manner, and loss of Miz1 prevents the nuclear translocation of Gli2. Knockdown of Miz1 had no effect on ciliogenesis as primary cilia were detected in similar numbers of control and knockdown cells (Scr, 66%±3%; #3, 68%±3%; and #5, 60%±3%), and no changes in cilium length and width were observed. In the absence of stimulation, a slight but significant decrease of GFP-Smo accumulation in primary cilia was observed in Miz1 knockdown cells (23671675).", "localization": "Cilia, nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "2.3671675E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000116809", "synonym": "MIZ1; PHZ-67; ZNF151; ZNF60", "ortholog_mouse": "Zbtb17", "ortholog_xenopus": "zbtb17", "ortholog_zebrafish": "zbtb17", "screens": [] }, { "gene": "ZC2HC1A", "ensembl_id": "ENSG00000104427", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "Reduced cilia numbers", "description": "zinc finger C2HC-type containing 1A [Source:HGNC Symbol,Acc:HGNC:24277]", "functional_summary": "ZC2HC1A localize to the cilia of sensory neurons of the head and tails in C. elegans(38989623).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8989623E7", "complex_components": {}, "pfam_ids": "PF13913", "domain_descriptions": ["Zinc finger C2HC domain-containing protein 1A/B-like", "Zinc finger", "C2HC/C3H-type"], "string_link": "https://string-db.org/network/9606/ENSG00000104427", "synonym": "C8ORF70, CGI-62, FAM164A", "ortholog_mouse": "Zc2hc1a", "ortholog_c_elegans": "zchc-1A", "ortholog_xenopus": "zc2hc1a", "ortholog_zebrafish": "zc2hc1a", "ortholog_drosophila": "CG42675", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.47, "sd_percent_ciliated": 1.47, "z_score": 1.47, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -2.4132, "sd_percent_ciliated": -2.4132, "z_score": -2.4132, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZC2HC1C", "ensembl_id": "ENSG00000119703", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger C2HC-type containing 1C [Source:HGNC Symbol,Acc:HGNC:20354]", "functional_summary": "ZC2HC1C localizes to ciliary tip domain and statio ry foci along the axoneme, positions of which coincide with sites of intraflagellar train pausing and turning.", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "http://hdl.handle.net/20.500.11956/175558", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000119703", "synonym": "C14ORF140, FAM164C", "ortholog_mouse": "Zc2hc1c", "ortholog_xenopus": "zc2hc1c", "ortholog_zebrafish": "zc2hc1c", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.1782, "sd_percent_ciliated": 1.1782, "z_score": 1.1782, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZC4H2", "ensembl_id": "ENSG00000126970", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger C4H2-type containing [Source:HGNC Symbol,Acc:HGNC:24931]", "omim_id": "300897", "functional_summary": "ZC4H2 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF10146", "domain_descriptions": ["Zinc finger C4H2 domain-containing protein", "Zinc finger C4H2-type"], "string_link": "https://string-db.org/network/9606/ENSG00000126970", "synonym": "HCA127, KIAA1166, MCS, MRXS4, WWS", "ortholog_mouse": "Zc4h2", "ortholog_c_elegans": "vab-23, ZK930.2", "ortholog_xenopus": "zc4h2", "ortholog_zebrafish": "zc4h2", "ortholog_drosophila": "CG13001", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 3.92, "sd_percent_ciliated": 3.92, "z_score": 3.92, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 1.1052, "sd_percent_ciliated": 1.1052, "z_score": 1.1052, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZCCHC8", "ensembl_id": "ENSG00000033030", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger CCHC-type containing 8 [Source:HGNC Symbol;Acc:HGNC:25265]", "omim_id": "616381", "functional_summary": "Homozygous mice (Zcchc8-/-) develop a progressive and fatal neurodevelopmental pathology with features of a ciliopathy. These mice may be useful for studying telomerase RNA (TR) maturation and global RNA processing(PMID: 31488579).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation", "reference": "3.1488579E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000033030", "synonym": "DKFZP434E2220", "ortholog_mouse": "Zcchc8", "ortholog_c_elegans": "Y34D9A.7, ZK632.11", "ortholog_xenopus": "zcchc8", "ortholog_zebrafish": "zcchc8", "ortholog_drosophila": "CG4622", "screens": [] }, { "gene": "ZCRB1", "ensembl_id": "ENSG00000139168", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger CCHC-type and RNA binding motif containing 1 [Source:HGNC Symbol;Acc:HGNC:29620]", "omim_id": "610750", "functional_summary": "Human cell lines with a partial reduction in ZCRB1 expression exhibit significant dysregulation of the splicing and expression of U12-type genes, primarily due to dysregulation of U12 mono-snRNA. RNA-Seq and targeted analyses of minor intron-containing genes indicate a downregulation in the expression of genes involved in ciliogenesis, and consequentially an upregulation in WNT signaling. Additionally, zcrb1 CRISPR-Cas12a knockdown in zebrafish embryos led to gross developmental and body axis abnormalities, disrupted ciliogenesis, and upregulated WNT signaling, complementing our human cell studies. ZCRB1 protein has specifically role in cellular and developmental processes across species, shedding light on the multifaceted relationship between splicing regulation, ciliogenesis, and WNT signaling(PMID: 39149385).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Viral interactions", "reference": "3.9149385E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000139168", "synonym": "MADP-1; MADP1; RBM36; SNRNP31; ZCCHC19", "ortholog_mouse": "Zcrb1", "ortholog_xenopus": "zcrb1", "ortholog_zebrafish": "zcrb1", "screens": [] }, { "gene": "ZDHHC5", "ensembl_id": "ENSG00000156599", "overexpression_effects": "Not Reported", "lof_effects": "Longer cilia", "percent_ciliated_cells_effects": "Little effect", "description": "zinc finger DHHC-type palmitoyltransferase 5 [Source:HGNC Symbol;Acc:HGNC:18472]", "functional_summary": "ZDHHC5 has localized in cilia(40930094).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly, Viral interactions, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "4.0930094E7", "complex_components": ["GOLGA7", "ZDHHC5", "GOLGA7B"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156599", "synonym": "DHHC5; KIAA1748; ZNF375", "ortholog_mouse": "Zdhhc5", "ortholog_c_elegans": "dhhc-8", "ortholog_xenopus": "zdhhc5", "ortholog_zebrafish": "zdhhc5a, zdhhc5b", "ortholog_drosophila": "Zdhhc8", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5505, "sd_percent_ciliated": 4.4129, "z_score": 0.3079 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 1.3, "sd_percent_ciliated": 1.3, "z_score": 1.3 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 1.4198, "sd_percent_ciliated": 1.4198, "z_score": 1.4198 } ] }, { "gene": "ZFYVE19", "ensembl_id": "ENSG00000166140", "overexpression_effects": "Unknown", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Increased cilia numbers", "description": "zinc finger FYVE-type containing 19 [Source:HGNC Symbol;Acc:HGNC:20758]", "omim_id": "619635", "functional_summary": "The Zfyve19-/- mice were normal overall, particularly with respect to hepatobiliary features. However, when challenged with α-naphthyl isothiocyanate, Zfyve19-/- mice developed changes resembling those in ZFYVE19-deficient patients, including elevated serum liver injury markers, increased numbers of bile duct profiles with abnormal cholangiocyte polarity and biliary fibrosis. Failure of cell division, centriole and cilia abnormalities, and increased cell death were observed in knockdown/knockout cells(PMID: 38816193).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, T cell biology", "reference": "38816193 ; 33853651", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000166140", "synonym": "ANCHR; FLJ14840; MPFYVE", "ciliopathy_classification": "Atypical Ciliopathies; Potential Ciliopathy Genes", "evidence_source": "CiliaMiner", "ortholog_mouse": "Zfyve19", "ortholog_c_elegans": "zfyv-19", "ortholog_xenopus": "zfyve19", "ortholog_zebrafish": "zfyve19", "ortholog_drosophila": "CG15602", "screens": [] }, { "gene": "ZIC1", "ensembl_id": "ENSG00000152977", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "Zic family member 1 [Source:HGNC Symbol,Acc:HGNC:12872]", "omim_id": "600470", "functional_summary": "Zic1, perhaps together with Gli1 and Gli3, may act as a link between mechanosensing and Wnt sig ling ( 20354137).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Transcription regulation", "reference": "2.0354137E7", "complex_components": {}, "pfam_ids": ["PF00096", "PF18366", "PF23561"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "GLI C2H2-type zinc-finger", "ZIC protein", "zinc finger domain", "C2H2-type zinc-finger protein GLI-like", "ZIC1-5/GLI1-3like", "C2H2 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000152977", "synonym": "ZIC, ZNF201", "ortholog_mouse": "Zic1", "ortholog_c_elegans": "ref-2", "ortholog_xenopus": "LOC100493456", "ortholog_zebrafish": "zic1", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 47.6069, "sd_percent_ciliated": 4.7866, "z_score": 1.1628 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.233, "sd_percent_ciliated": 0.233, "z_score": 0.233 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -0.3829, "sd_percent_ciliated": -0.3829, "z_score": -0.3829 } ] }, { "gene": "ZIC2", "ensembl_id": "ENSG00000043355", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "Zic family member 2 [Source:HGNC Symbol,Acc:HGNC:12873]", "omim_id": "603073", "functional_summary": "Transcription factor. Directs the formation and function of node cilia to control cardiac situs in mice. Component of the gene regulatory network that drives ciliation of node cells during gastrulation in mice. 24585447 Contributes to establishment of LR asymmetry by regulating left-sided nodal expression in mice 29992973. Involved in dorsal neural tube formation in zebrafish and mice, downregulated in zebrafish Rfx4 mutants (29243319). Heterozygous frameshift mutations cause holoprosenchephaly in humans (OMIM: 603073).", "localization": "basal body,cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development, Transcription regulation", "reference": "23891471, 23891469, 29601588, 29916806, 9771712 ,9771712", "complex_components": ["TCF4", "ZIC2"], "pfam_ids": ["PF18366", "PF23561", "PF00096"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "ZIC protein", "zinc finger domain", "C2H2-type zinc-finger protein GLI-like", "ZIC1-5/GLI1-3like", "C2H2 zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000043355", "synonym": "HPE5", "ciliopathy": "Holoprosencephaly", "ciliopathy_classification": "Secondary Diseases", "evidence_source": "CiliaMiner", "ortholog_mouse": "Zic2", "ortholog_c_elegans": "ref-2", "ortholog_xenopus": "zic2", "ortholog_zebrafish": "zic2a, zic2b", "ortholog_drosophila": "opa", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 34.7235, "sd_percent_ciliated": 6.7914, "z_score": -0.3981 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -2.8559, "sd_percent_ciliated": -2.8559, "z_score": -2.8559 } ] }, { "gene": "ZIC3", "ensembl_id": "ENSG00000156925", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "Zic family member 3 [Source:HGNC Symbol,Acc:HGNC:12874]", "omim_id": "300265", "functional_summary": "Mutations in the ZIC3 gene cause Visceral Heterotaxy (PMID: 9354794).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Cardiac & muscle development, Transcription regulation", "reference": "9354794.0", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000156925", "synonym": "HTX, HTX1, ZNF203", "ortholog_mouse": "Zic3", "ortholog_c_elegans": "ref-2", "ortholog_xenopus": "zic3", "ortholog_zebrafish": "zic3", "ortholog_drosophila": "opa", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 40.5084, "sd_percent_ciliated": 0.5048, "z_score": 0.3028 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 5.11, "sd_percent_ciliated": 5.11, "z_score": 5.11 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -3.9905, "sd_percent_ciliated": -3.9905, "z_score": -3.9905 } ] }, { "gene": "ZMYND10", "ensembl_id": "ENSG00000004838", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "No effect; Not Reported", "description": "zinc finger MYND-type containing 10 [Source:HGNC Symbol,Acc:HGNC:19412]", "omim_id": "607070", "functional_summary": "Recessive biallelic mutations in ZMYND10 cause a form of PCD in which patients lack inner dynein arms and outer dynein arms and lack axonemal protein components D H5 and D LI1 from respiratory cilia (CILD22, OMIM:63395) (23891469). Interacts with LRCC6, also a cause of PCD (CILD19, OMIM:614930). LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-termi l domain (23891469). Colocalizes with SAS6 and PCM at the centriole in rat trachea (23891469). Stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms (29601588). Functions in a chaperone relay during axonemal dynein assembly (29916806)", "localization": "basal body, Centrosome", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Protein processing & maturation", "reference": "22863007, 17151198, 28893945, 23891471, 23891469 ,23891471, 23891469", "complex_components": ["CFAP298", "DNAAF11", "DNAAF4", "HSPA8", "IQUB", "RUVBL2", "ZMYND10"], "pfam_ids": "PF01753", "domain_descriptions": ["Zinc finger", "MYND-type", "Uncharacterised conserved protein UCP037948", "zinc finger MYND-type", "Zinc finger MYND domain-containing protein 10"], "string_link": "https://string-db.org/network/9606/ENSG00000004838", "synonym": "BLU, CILD22, DNAAF7", "ciliopathy": "Primary Ciliary Dyskinesia", "ciliopathy_classification": "Motile Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Zmynd10", "ortholog_xenopus": "zmynd10", "ortholog_zebrafish": "zmynd10", "ortholog_drosophila": "Zmynd10", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 31.9299, "sd_percent_ciliated": 6.2201, "z_score": -0.7366 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 4.47, "sd_percent_ciliated": 4.47, "z_score": 4.47 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.7319, "sd_percent_ciliated": 0.7319, "z_score": 0.7319 } ] }, { "gene": "ZNF287", "ensembl_id": "ENSG00000141040", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 287 [Source:HGNC Symbol,Acc:HGNC:13502]", "functional_summary": "ZNF287 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": ["PF02023", "PF01352", "PF00096"], "domain_descriptions": ["Krueppel-associated box", "SCAN domain", "Zinc finger C2H2-type", "KRAB domain superfamily", "Zinc finger C2H2 superfamily", "SCAN domain superfamily", "Zinc finger protein", "C2H2-type"], "string_link": "https://string-db.org/network/9606/ENSG00000141040", "synonym": "ZKSCAN13, ZSCAN45", "ortholog_mouse": "Zfp287", "ortholog_xenopus": "znf37a", "screens": [ { "dataset": "Kim2016", "mean_percent_ciliated": -2.4553, "z_score": -1.2309, "classification": "Hit", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "mean_percent_ciliated": 21.5179, "z_score": -1.998, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "sd_percent_ciliated": 3.7756 }, { "dataset": "Breslow2018", "mean_percent_ciliated": 1.13, "z_score": 1.13, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "sd_percent_ciliated": 1.13 }, { "dataset": "Wheway2015", "mean_percent_ciliated": -4.4857, "z_score": -4.4857, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "sd_percent_ciliated": -4.4857 } ] }, { "gene": "ZNF330", "ensembl_id": "ENSG00000109445", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 330 [Source:HGNC Symbol,Acc:HGNC:15462]", "functional_summary": "ZNF330 localized at cilia", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF06524", "domain_descriptions": "Zinc finger protein NOA36", "string_link": "https://string-db.org/network/9606/ENSG00000109445", "synonym": "HSA6591, NOA36", "ortholog_mouse": "Zfp330", "ortholog_xenopus": "znf330", "ortholog_zebrafish": "znf330", "ortholog_drosophila": "Noa36", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 49.6422, "sd_percent_ciliated": 2.9076, "z_score": 1.4094, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.33, "sd_percent_ciliated": 0.33, "z_score": 0.33, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.1454, "sd_percent_ciliated": -3.1454, "z_score": -3.1454, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZNF408", "ensembl_id": "ENSG00000175213", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 408 [Source:HGNC Symbol,Acc:HGNC:20041]", "omim_id": "616454", "functional_summary": "Mutations in the ZNF408 gene cause Retinitis Pigmentosa(PMID: 25882705).", "localization": "Centriolar satellite,Cytosol", "reference": "2.5882705E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000175213", "synonym": "ZNF408,ZNF408,ENSG00000175213, EVR6, RP72", "ortholog_mouse": "Zfp408", "ortholog_xenopus": "znf408", "ortholog_zebrafish": "znf408", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 30.1233, "sd_percent_ciliated": 1.0062, "z_score": -0.9554 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0.163, "sd_percent_ciliated": 0.163, "z_score": 0.163 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.2451, "sd_percent_ciliated": 0.2451, "z_score": 0.2451 } ] }, { "gene": "ZNF423", "ensembl_id": "ENSG00000102935", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Decreased", "description": "zinc finger protein 423 [Source:HGNC Symbol,Acc:HGNC:16762]", "omim_id": "604557", "functional_summary": "ZNF423 localizes to the ciliary transition zone and is also involved in D damage repair (22863007. The analysis of the tChP in the lateral ventricles revealed that wild-type and mutant cells alike display a columnar and multiciliated epithelium positive for Arl13b+ and γ-tubulin (Fig. S8), again suggesting that Zfp423 (human ZNF423) is only required for the specification of the hChP ciliated epithelium and that alternative regulatory molecules may be in place in the embryonic lateral ventricles. (33046507)", "localization": "transition zone, Nucleus", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels), Transition zone", "reference": "22863007, 22863007 ,22863007, 33046507", "complex_components": {}, "pfam_ids": ["PF00096", "PF13912"], "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "Zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000102935", "synonym": "EBFAZ, HOAZ, JBTS19, KIAA0760, NPHP14, OAZ, ZFP104", "ciliopathy": "Joubert Syndrome; Nephronophthisis", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Zfp423", "ortholog_xenopus": "znf423", "ortholog_zebrafish": "znf423", "ortholog_drosophila": "L", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 38.3193, "sd_percent_ciliated": 12.3361, "z_score": 0.0376 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": 0.3101, "sd_percent_ciliated": 0.3101, "z_score": 0.3101 } ] }, { "gene": "ZNF474", "ensembl_id": "ENSG00000164185", "overexpression_effects": "No effect", "lof_effects": "No effect", "percent_ciliated_cells_effects": "No effect", "description": "zinc finger protein 474 [Source:HGNC Symbol,Acc:HGNC:23245]", "functional_summary": "ZNF474 localize to the cilia of sensory neurons of the head and tails in C. elegans(38989623).", "localization": "cilia", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8989623E7", "complex_components": {}, "pfam_ids": "PF13913", "domain_descriptions": ["Zinc finger C2H2-type", "Zinc finger C2HC domain-containing protein 1A/B-like", "Zinc finger", "C2HC/C3H-type"], "string_link": "https://string-db.org/network/9606/ENSG00000164185", "synonym": "4933409D10RIK, FLJ32921", "ortholog_mouse": "Zfp474", "ortholog_c_elegans": "znf-474", "ortholog_xenopus": "znf474", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": 0.6659, "sd_percent_ciliated": 0.6659, "z_score": 0.6659, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZNF513", "ensembl_id": "ENSG00000163795", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 513 [Source:HGNC Symbol,Acc:HGNC:26498]", "omim_id": "613598", "functional_summary": "Mutations in the ZNF513 gene cause Retinitis Pigmentosa (PMID: 20797688).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "2.0797688E7", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000163795", "synonym": "FLJ32203, RP58, ZFP513", "ortholog_mouse": "Zfp513", "ortholog_xenopus": "znf513", "ortholog_zebrafish": "znf513a", "screens": [ { "dataset": "Roosing2015", "mean_percent_ciliated": 35.7097, "sd_percent_ciliated": 1.4496, "z_score": -0.2786, "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data" }, { "dataset": "Breslow2018", "mean_percent_ciliated": 0.423, "sd_percent_ciliated": 0.423, "z_score": 0.423, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -1.1168, "sd_percent_ciliated": -1.1168, "z_score": -1.1168, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZNF676", "ensembl_id": "ENSG00000276219", "overexpression_effects": "Shorter cilia", "lof_effects": "Unknown", "percent_ciliated_cells_effects": "Unknown", "description": "zinc finger protein 676 [Source:HGNC Symbol;Acc:HGNC:20429]", "functional_summary": "Both immunofluorescence enhanced microscopy and scanning electron microscopy revealed profound perturbations of ciliogenesis in ZNF676-overexpressing cells, characterized by abnormally short and disorganized cilia . A comparison of the transcriptomes of these cells and their LacZ-transduced controls revealed that a large fraction of differentially expressed genes were related to the cilium. Primary normal human broncho-epithelial (NHBE) cells with lentivectors harboring dox-controllable versions of ZNF676 or LacZ and induced the expression of these transgenes upon triggering differentiation into ciliated cells at an air-liquid interface. (PMID: 35042549).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.5042549E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000276219", "ortholog_mouse": "Zfp1005, Zfp600", "ortholog_zebrafish": "wu:fe14d05", "ortholog_drosophila": "jim", "screens": [] }, { "gene": "ZNF703", "ensembl_id": "ENSG00000183779", "overexpression_effects": "Not Reported", "lof_effects": "Decreased", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 703 [Source:HGNC Symbol,Acc:HGNC:25883]", "omim_id": "617045", "functional_summary": "Nlz1 contributes to motile cilia formation by positively regulating Wnt11/presumed non-canonical Wnt sig ling ( 26327644).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Cell migration & adhesion, Signaling (Hedgehog, GPCRs, ion channels), Transcription regulation", "reference": "2.6327644E7", "complex_components": {}, "pfam_ids": "PF12402", "domain_descriptions": ["Zinc finger C2H2-type", "Transcriptional repressor NocA-like", "Elbow/Noc Zinc Finger"], "string_link": "https://string-db.org/network/9606/ENSG00000183779", "synonym": "FLJ14299, NLZ1, ZEPPO1, ZNF503L, ZPO1", "ortholog_mouse": "Zfp703", "ortholog_c_elegans": "tlp-1", "ortholog_xenopus": "znf703", "ortholog_zebrafish": "znf703", "ortholog_drosophila": "elB, noc", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 1.37, "sd_percent_ciliated": 1.37, "z_score": 1.37, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -0.726, "sd_percent_ciliated": -0.726, "z_score": -0.726, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZNF750", "ensembl_id": "ENSG00000141579", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 750 [Source:HGNC Symbol;Acc:HGNC:25843]", "omim_id": "610226", "functional_summary": "The genome editing of other putative target genes reveals roles for zinc finger transcription factor Znf750 and small membrane adhesion glycoprotein in promoting ciliogenesis and barrier function as part of a network of genes coordinately regulated by Grhl2(PMID: 26527742).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly, Actin & cytoskeleton regulation, Transcription regulation", "reference": "2.6527742E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000141579", "synonym": "FLJ13841; ZFP750", "ortholog_mouse": "Zfp750", "ortholog_xenopus": "znf750", "ortholog_zebrafish": "znf750", "screens": [] }, { "gene": "ZNF835", "ensembl_id": "ENSG00000127903", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger protein 835 [Source:HGNC Symbol,Acc:HGNC:34332]", "functional_summary": "ZNF835 has localized in basal body, cilia.", "localization": "basal body, cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000127903", "synonym": "BC37295_3", "ortholog_mouse": "Zfp1000, Zfp999", "ortholog_xenopus": "LOC101733825", "screens": {} }, { "gene": "ZNRF1", "ensembl_id": "ENSG00000186187", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc and ring finger 1 [Source:HGNC Symbol,Acc:HGNC:18452]", "omim_id": "612060", "functional_summary": "ZNRF1 localized at cilia", "localization": "cilia, Cytosol", "functional_category": "Ciliary assembly/disassembly, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF13639", "domain_descriptions": ["Zinc finger", "RING-type", "Zinc finger", "RING/FYVE/PHD-type", "ZNRF ubiquitin-protein ligase"], "string_link": "https://string-db.org/network/9606/ENSG00000186187", "synonym": "DKFZP434E229, FLJ14846, NIN283", "ortholog_mouse": "Znrf1", "ortholog_c_elegans": "Y71F9AL.10", "ortholog_xenopus": "znrf1", "ortholog_zebrafish": "znrf1", "ortholog_drosophila": "detr", "screens": [ { "dataset": "Kim2016", "classification": "No significant effect", "paper_link": "https://www.sciencedirect.com/science/article/pii/S016748891630074X" }, { "dataset": "Roosing2015", "classification": "No significant effect", "paper_link": "https://elifesciences.org/articles/06602/figures#SD2-data", "mean_percent_ciliated": 41.6397, "sd_percent_ciliated": 3.742, "z_score": 0.4399 }, { "dataset": "Breslow2018", "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas", "mean_percent_ciliated": 0, "sd_percent_ciliated": 0, "z_score": 0 }, { "dataset": "Wheway2015", "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas", "mean_percent_ciliated": -5.559, "sd_percent_ciliated": -5.559, "z_score": -5.559 } ] }, { "gene": "ZPR1", "ensembl_id": "ENSG00000109917", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "ZPR1 zinc finger [Source:HGNC Symbol,Acc:HGNC:13051]", "omim_id": "603901", "functional_summary": "zpr1 and zpr3 located to the photoreceptor outer segment鈥攁 specialized ciliary structure(38813692).", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly, Protein processing & maturation, Signaling (Hedgehog, GPCRs, ion channels)", "reference": "3.8813692E7", "complex_components": ["KPNB1", "SMN1", "SNUPN", "ZPR1"], "pfam_ids": ["PF22794", "PF03367"], "domain_descriptions": ["Zinc finger", "ZPR1-type", "ZPR1", "ZPR1", "A/B domain", "ZPR1", "zinc finger domain", "ZPR1", "jelly-roll domain"], "string_link": "https://string-db.org/network/9606/ENSG00000109917", "synonym": "ZNF259", "ortholog_mouse": "Zpr1", "ortholog_c_elegans": "W03F9.1", "ortholog_xenopus": "zpr1", "ortholog_zebrafish": "zpr1", "ortholog_drosophila": "Zpr1", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 4.85, "sd_percent_ciliated": 4.85, "z_score": 4.85, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "ZRSR2", "ensembl_id": "ENSG00000169249", "overexpression_effects": "Not Reported", "lof_effects": "Increased", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Source:HGNC Symbol,Acc:HGNC:23019]", "omim_id": "300028", "functional_summary": "Mutations in the ZRSR2 gene cause Orofaciodigital Syndrome (PMID: 38158857).", "localization": "Ciliary associated gene, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "38158857 ,38158857", "complex_components": ["DHX15", "PDCD7", "PRPF8", "RNPC3", "SF3B1", "SF3B2", "SF3B3", "SF3B4", "SF3B5", "SF3B6", "SNRNP25", "SNRNP35", "SNRNP48", "SNRPB", "SNRPD1", "SNRPD2", "SNRPD3", "SNRPE", "SNRPF", "SNRPG", "YBX1", "ZCRB1", "ZMAT5", "ZRSR2"], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000169249", "synonym": "U2AF1-RS2, U2AF1L2, URP, ZC3H22", "ciliopathy": "Orofaciodigital Syndrome", "ciliopathy_classification": "Primary Ciliopathies", "evidence_source": "CiliaMiner", "ortholog_mouse": "Zrsr2, Zrsr2-ps1", "ortholog_xenopus": "zrsr2", "ortholog_zebrafish": "zrsr2", "ortholog_drosophila": "CG3294", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 6.41, "sd_percent_ciliated": 6.41, "z_score": 6.41, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" }, { "dataset": "Wheway2015", "mean_percent_ciliated": -3.6794, "sd_percent_ciliated": -3.6794, "z_score": -3.6794, "classification": "Negative regulator", "paper_link": "https://www.nature.com/articles/ncb3201#citeas" } ] }, { "gene": "ZSCAN18", "ensembl_id": "ENSG00000121413", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "zinc finger and SCAN domain containing 18 [Source:HGNC Symbol,Acc:HGNC:21037]", "functional_summary": "ZSCAN18 has localized in cilia.", "localization": "cilia, Nucleus", "functional_category": "Ciliary assembly/disassembly", "reference": "https://doi.org/10.1101/2024.10.20.619273", "complex_components": {}, "pfam_ids": "PF02023", "domain_descriptions": ["SCAN domain", "Zinc finger C2H2-type", "Zinc finger C2H2 superfamily", "SCAN domain superfamily", "SCAN domain and C2H2-type zinc finger"], "string_link": "https://string-db.org/network/9606/ENSG00000121413", "synonym": "FLJ12895, ZNF447", "ortholog_mouse": "Zscan18", "screens": [ { "dataset": "Breslow2018", "mean_percent_ciliated": 7.5, "sd_percent_ciliated": 7.5, "z_score": 7.5, "classification": "No significant effect", "paper_link": "https://www.nature.com/articles/s41588-018-0054-7#citeas" } ] }, { "gene": "miR‐669a‐5", "overexpression_effects": "Longer cilia", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "functional_summary": "Our results described above indicated that G3BPs were the target genes of miR‐669a‐5p and that overexpression of miR‐669a‐5p promoted cilium elongation. Therefore, we hypothesized that miR‐669a‐5p might regulate cilium length by targeting G3BPs(38088586).", "localization": "Ciliary associated gene", "functional_category": "Ciliary assembly/disassembly", "reference": "3.8088586E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/NA", "screens": [] }, { "gene": "GPR157", "ensembl_id": "ENSG00000180758", "overexpression_effects": "Not Reported", "lof_effects": "Not Reported", "percent_ciliated_cells_effects": "Not Reported", "description": "G protein-coupled receptor 157", "functional_summary": "The ability of radial glial progenitors (RGPs) to generate cortical neurons is determined by local extracellular factors and signaling pathways intrinsic to RGPs. Here we find that GPR157, an orphan G protein-coupled receptor, localizes to RGPs' primary cilia exposed to the cerebrospinal fluid (CSF). GPR157 couples with Gq-class of the heterotrimeric G-proteins and signals through IP3-mediated Ca(2+) cascade. Activation of GPR157-Gq signaling enhances neuronal differentiation of RGPs whereas interfering with GPR157-Gq-IP3 cascade in RGPs suppresses neurogenesis. We also detect the presence of putative ligand(s) for GPR157 in the CSF, and demonstrate the increased ability of the CSF to activate GPR157 at neurogenic phase. Thus, GPR157-Gq signaling at the primary cilia of RGPs is activated by the CSF and contributes to neurogenesis. (27142930)", "localization": "cilia", "reference": "2.714293E7", "complex_components": [], "pfam_ids": [], "domain_descriptions": [], "string_link": "https://string-db.org/network/9606/ENSG00000180758", "ortholog_mouse": "Gpr157", "ortholog_xenopus": "gpr157", "ortholog_zebrafish": "gpr157", "screens": [] } ]