{ "url": "https://dantelabs.com/genes/atp6v0c", "gene": { "slug": "atp6v0c", "symbol": "ATP6V0C", "name": "ATPase H+ transporting V0 subunit c", "hgnc": "HGNC:855", "summary": null, "location": "16p13.3", "locusType": "gene with protein product", "aliases": [ "VATL", "Vma3" ], "previousSymbols": [ "ATPL", "ATP6C", "ATP6L" ], "ensemblId": "ENSG00000185883", "entrezId": 527, "omim": [ "108745" ], "uniprot": [ "P27449" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 2513952, "end": 2520218, "strand": "+", "ensemblTranscript": "ENST00000330398.9", "refseqTranscript": "NM_001694.4", "ensemblProtein": "ENSP00000329757.4", "refseqProtein": "NP_001685.1", "exons": [ { "start": 2513952, "end": 2514182 }, { "start": 2519218, "end": 2519401 }, { "start": 2519541, "end": 2520218 } ], "cds": { "start": 2514104, "end": 2519745 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 2563871, "end": 2570219, "strand": "+" }, "neighbourhood": { "release": "116", "start": 2017085, "end": 3017084, "genes": [ { "symbol": "NPW", "ensemblId": "ENSG00000183971", "biotype": "protein_coding", "start": 2009926, "end": 2020755, "strand": "+", "slug": "npw" }, { "symbol": "NHERF2", "ensemblId": "ENSG00000065054", "biotype": "protein_coding", "start": 2025356, "end": 2039026, "strand": "+", "slug": "nherf2" }, { "symbol": "NTHL1", "ensemblId": "ENSG00000065057", "biotype": "protein_coding", "start": 2039814, "end": 2047866, "strand": "-", "slug": "nthl1" }, { "symbol": "TSC2", "ensemblId": "ENSG00000103197", "biotype": "protein_coding", "start": 2047345, "end": 2089491, "strand": "+", "slug": "tsc2" }, { "symbol": "PKD1", "ensemblId": "ENSG00000008710", "biotype": "protein_coding", "start": 2088708, "end": 2135898, "strand": "-", "slug": "pkd1" }, { "symbol": "RAB26", "ensemblId": "ENSG00000167964", "biotype": "protein_coding", "start": 2140803, "end": 2154165, "strand": "+", "slug": "rab26" }, { "symbol": "TRAF7", "ensemblId": "ENSG00000131653", "biotype": "protein_coding", "start": 2155692, "end": 2178129, "strand": "+", "slug": "traf7" }, { "symbol": "CASKIN1", "ensemblId": "ENSG00000167971", "biotype": "protein_coding", "start": 2177180, "end": 2196788, "strand": "-", "slug": "caskin1" }, { "symbol": "MLST8", "ensemblId": "ENSG00000167965", "biotype": "protein_coding", "start": 2204248, "end": 2209453, "strand": "+", "slug": "mlst8" }, { "symbol": "BRICD5", "ensemblId": "ENSG00000182685", "biotype": "protein_coding", "start": 2209252, "end": 2210905, "strand": "-", "slug": "bricd5" }, { "symbol": "PGP", "ensemblId": "ENSG00000184207", "biotype": "protein_coding", "start": 2211593, "end": 2214846, "strand": "-", "slug": "pgp" }, { "symbol": "E4F1", "ensemblId": "ENSG00000167967", "biotype": "protein_coding", "start": 2223440, "end": 2235743, "strand": "+", "slug": "e4f1" }, { "symbol": "DNASE1L2", "ensemblId": "ENSG00000167968", "biotype": "protein_coding", "start": 2235816, "end": 2238711, "strand": "+", "slug": "dnase1l2" }, { "symbol": "ECI1", "ensemblId": "ENSG00000167969", "biotype": "protein_coding", "start": 2239376, "end": 2252300, "strand": "-", "slug": "eci1" }, { "symbol": "RNPS1", "ensemblId": "ENSG00000205937", "biotype": "protein_coding", "start": 2253116, "end": 2268413, "strand": "-", "slug": "rnps1" }, { "symbol": "ABCA3", "ensemblId": "ENSG00000167972", "biotype": "protein_coding", "start": 2275878, "end": 2340788, "strand": "-", "slug": "abca3" }, { "symbol": "CCNF", "ensemblId": "ENSG00000162063", "biotype": "protein_coding", "start": 2429394, "end": 2458913, "strand": "+", "slug": "ccnf" }, { "symbol": "TEDC2", "ensemblId": "ENSG00000162062", "biotype": "protein_coding", "start": 2460085, "end": 2464963, "strand": "+", "slug": "tedc2" }, { "symbol": "NTN3", "ensemblId": "ENSG00000162068", "biotype": "protein_coding", "start": 2471286, "end": 2474145, "strand": "+", "slug": "ntn3" }, { "symbol": "TBC1D24", "ensemblId": "ENSG00000162065", "biotype": "protein_coding", "start": 2475051, "end": 2509671, "strand": "+", "slug": "tbc1d24" }, { "symbol": "", "ensemblId": "ENSG00000260272", "biotype": "protein_coding", "start": 2496032, "end": 2520218, "strand": "+" }, { "symbol": "", "ensemblId": "ENSG00000259784", "biotype": "protein_coding", "start": 2513965, "end": 2527955, "strand": "+" }, { "symbol": "AMDHD2", "ensemblId": "ENSG00000162066", "biotype": "protein_coding", "start": 2520340, "end": 2531422, "strand": "+", "slug": "amdhd2" }, { "symbol": "CEMP1", "ensemblId": "ENSG00000205923", "biotype": "protein_coding", "start": 2530035, "end": 2531417, "strand": "-", "slug": "cemp1" }, { "symbol": "PDPK1", "ensemblId": "ENSG00000140992", "biotype": "protein_coding", "start": 2537969, "end": 2603190, "strand": "+", "slug": "pdpk1" }, { "symbol": "KCTD5", "ensemblId": "ENSG00000167977", "biotype": "protein_coding", "start": 2682516, "end": 2709030, "strand": "+", "slug": "kctd5" }, { "symbol": "PRSS27", "ensemblId": "ENSG00000172382", "biotype": "protein_coding", "start": 2712419, "end": 2721270, "strand": "-", "slug": "prss27" }, { "symbol": "SRRM2", "ensemblId": "ENSG00000167978", "biotype": "protein_coding", "start": 2752008, "end": 2772538, "strand": "+", "slug": "srrm2" }, { "symbol": "ELOB", "ensemblId": "ENSG00000103363", "biotype": "protein_coding", "start": 2771413, "end": 2777320, "strand": "-", "slug": "elob" }, { "symbol": "PRSS33", "ensemblId": "ENSG00000103355", "biotype": "protein_coding", "start": 2783926, "end": 2787948, "strand": "-", "slug": "prss33" }, { "symbol": "PRSS41", "ensemblId": "ENSG00000215148", "biotype": "protein_coding", "start": 2798470, "end": 2805304, "strand": "+", "slug": "prss41" }, { "symbol": "PRSS21", "ensemblId": "ENSG00000007038", "biotype": "protein_coding", "start": 2817130, "end": 2826304, "strand": "+", "slug": "prss21" }, { "symbol": "ZG16B", "ensemblId": "ENSG00000162078", "biotype": "protein_coding", "start": 2830162, "end": 2839585, "strand": "+", "slug": "zg16b" }, { "symbol": "PRSS22", "ensemblId": "ENSG00000005001", "biotype": "protein_coding", "start": 2852728, "end": 2858677, "strand": "-", "slug": "prss22" }, { "symbol": "FLYWCH2", "ensemblId": "ENSG00000162076", "biotype": "protein_coding", "start": 2882868, "end": 2903099, "strand": "+", "slug": "flywch2" }, { "symbol": "FLYWCH1", "ensemblId": "ENSG00000059122", "biotype": "protein_coding", "start": 2911599, "end": 2951208, "strand": "+", "slug": "flywch1" }, { "symbol": "KREMEN2", "ensemblId": "ENSG00000131650", "biotype": "protein_coding", "start": 2963625, "end": 2968380, "strand": "+", "slug": "kremen2" }, { "symbol": "PKMYT1", "ensemblId": "ENSG00000127564", "biotype": "protein_coding", "start": 2968024, "end": 2980813, "strand": "-", "slug": "pkmyt1" }, { "symbol": "PAQR4", "ensemblId": "ENSG00000162073", "biotype": "protein_coding", "start": 2969242, "end": 2973484, "strand": "+", "slug": "paqr4" }, { "symbol": "GREP1", "ensemblId": "ENSG00000262152", "biotype": "protein_coding", "start": 2988256, "end": 3002295, "strand": "+", "slug": "grep1" }, { "symbol": "", "ensemblId": "ENSG00000289281", "biotype": "protein_coding", "start": 3004132, "end": 3004859, "strand": "+" }, { "symbol": "CLDN9", "ensemblId": "ENSG00000213937", "biotype": "protein_coding", "start": 3012923, "end": 3014505, "strand": "+", "slug": "cldn9" }, { "symbol": "CLDN6", "ensemblId": "ENSG00000184697", "biotype": "protein_coding", "start": 3014705, "end": 3020071, "strand": "-", "slug": "cldn6" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "bilateral-tonic-clonic-seizure-with-focal-onset", "name": "Bilateral tonic-clonic seizure with focal onset", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years", "name": "Febrile seizure (within the age range of 3 months to 6 years)", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "multifocal-seizures", "name": "Multifocal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multifocal-seizures" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "atonic-seizure", "name": "Sudden loss of muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/atonic-seizure" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tonic-seizure" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }