{ "url": "https://dantelabs.com/no/genes/fam50a", "gene": { "slug": "fam50a", "symbol": "FAM50A", "name": "family with sequence similarity 50 member A", "hgnc": "HGNC:18786", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [ "DXS9928E", "XAP5", "HXC-26", "9F" ], "previousSymbols": [], "ensemblId": "ENSG00000071859", "entrezId": 9130, "omim": [ "300453" ], "uniprot": [ "Q14320" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 154444141, "end": 154450654, "strand": "+", "ensemblTranscript": "ENST00000393600.8", "refseqTranscript": "NM_004699.4", "ensemblProtein": "ENSP00000377225.3", "refseqProtein": "NP_004690.1", "exons": [ { "start": 154444141, "end": 154444346 }, { "start": 154445633, "end": 154445717 }, { "start": 154445812, "end": 154445911 }, { "start": 154446415, "end": 154446560 }, { "start": 154448484, "end": 154448560 }, { "start": 154448690, "end": 154448756 }, { "start": 154448893, "end": 154448954 }, { "start": 154449221, "end": 154449297 }, { "start": 154449681, "end": 154449735 }, { "start": 154449883, "end": 154449931 }, { "start": 154450029, "end": 154450099 }, { "start": 154450209, "end": 154450319 }, { "start": 154450424, "end": 154450654 } ], "cds": { "start": 154444236, "end": 154450432 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 153672473, "end": 153679002, "strand": "+" }, "neighbourhood": { "release": "116", "start": 153947398, "end": 154947397, "genes": [ { "symbol": "HCFC1", "ensemblId": "ENSG00000172534", "biotype": "protein_coding", "start": 153946434, "end": 153972427, "strand": "-", "slug": "hcfc1" }, { "symbol": "TMEM187", "ensemblId": "ENSG00000177854", "biotype": "protein_coding", "start": 153972290, "end": 153983194, "strand": "+", "slug": "tmem187" }, { "symbol": "IRAK1", "ensemblId": "ENSG00000184216", "biotype": "protein_coding", "start": 154010501, "end": 154020650, "strand": "-", "slug": "irak1" }, { "symbol": "MECP2", "ensemblId": "ENSG00000169057", "biotype": "protein_coding", "start": 154021573, "end": 154137103, "strand": "-", "slug": "mecp2" }, { "symbol": "OPN1LW", "ensemblId": "ENSG00000102076", "biotype": "protein_coding", "start": 154144243, "end": 154159032, "strand": "+", "slug": "opn1lw" }, { "symbol": "OPN1MW", "ensemblId": "ENSG00000268221", "biotype": "protein_coding", "start": 154182596, "end": 154196861, "strand": "+", "slug": "opn1mw" }, { "symbol": "OPN1MW2", "ensemblId": "ENSG00000166160", "biotype": "protein_coding", "start": 154219756, "end": 154233286, "strand": "+", "slug": "opn1mw2" }, { "symbol": "OPN1MW3", "ensemblId": "ENSG00000269433", "biotype": "protein_coding", "start": 154257582, "end": 154271090, "strand": "+", "slug": "opn1mw3" }, { "symbol": "TEX28", "ensemblId": "ENSG00000278057", "biotype": "protein_coding", "start": 154271265, "end": 154295853, "strand": "-", "slug": "tex28" }, { "symbol": "TKTL1", "ensemblId": "ENSG00000007350", "biotype": "protein_coding", "start": 154295795, "end": 154330350, "strand": "+", "slug": "tktl1" }, { "symbol": "FLNA", "ensemblId": "ENSG00000196924", "biotype": "protein_coding", "start": 154348524, "end": 154374643, "strand": "-", "slug": "flna" }, { "symbol": "EMD", "ensemblId": "ENSG00000102119", "biotype": "protein_coding", "start": 154379205, "end": 154381574, "strand": "+", "slug": "emd" }, { "symbol": "RPL10", "ensemblId": "ENSG00000147403", "biotype": "protein_coding", "start": 154389955, "end": 154409168, "strand": "+", "slug": "rpl10" }, { "symbol": "DNASE1L1", "ensemblId": "ENSG00000013563", "biotype": "protein_coding", "start": 154401236, "end": 154412119, "strand": "-", "slug": "dnase1l1" }, { "symbol": "TAFAZZIN", "ensemblId": "ENSG00000102125", "biotype": "protein_coding", "start": 154409456, "end": 154421726, "strand": "+", "slug": "tafazzin" }, { "symbol": "ATP6AP1", "ensemblId": "ENSG00000071553", "biotype": "protein_coding", "start": 154428618, "end": 154436517, "strand": "+", "slug": "atp6ap1" }, { "symbol": "GDI1", "ensemblId": "ENSG00000203879", "biotype": "protein_coding", "start": 154436600, "end": 154443467, "strand": "+", "slug": "gdi1" }, { "symbol": "PLXNA3", "ensemblId": "ENSG00000130827", "biotype": "protein_coding", "start": 154458275, "end": 154477779, "strand": "+", "slug": "plxna3" }, { "symbol": "LAGE3", "ensemblId": "ENSG00000196976", "biotype": "protein_coding", "start": 154477598, "end": 154479291, "strand": "-", "slug": "lage3" }, { "symbol": "UBL4A", "ensemblId": "ENSG00000102178", "biotype": "protein_coding", "start": 154483717, "end": 154486661, "strand": "-", "slug": "ubl4a" }, { "symbol": "SLC10A3", "ensemblId": "ENSG00000126903", "biotype": "protein_coding", "start": 154487306, "end": 154490690, "strand": "-", "slug": "slc10a3" }, { "symbol": "FAM3A", "ensemblId": "ENSG00000071889", "biotype": "protein_coding", "start": 154505019, "end": 154516882, "strand": "-", "slug": "fam3a" }, { "symbol": "G6PD", "ensemblId": "ENSG00000160211", "biotype": "protein_coding", "start": 154517825, "end": 154547584, "strand": "-", "slug": "g6pd" }, { "symbol": "IKBKG", "ensemblId": "ENSG00000269335", "biotype": "protein_coding", "start": 154541179, "end": 154568543, "strand": "+", "slug": "ikbkg" }, { "symbol": "CTAG1A", "ensemblId": "ENSG00000268651", "biotype": "protein_coding", "start": 154585133, "end": 154586816, "strand": "+", "slug": "ctag1a" }, { "symbol": "CTAG1B", "ensemblId": "ENSG00000184033", "biotype": "protein_coding", "start": 154617609, "end": 154619282, "strand": "-", "slug": "ctag1b" }, { "symbol": "CTAG2", "ensemblId": "ENSG00000126890", "biotype": "protein_coding", "start": 154651972, "end": 154653579, "strand": "-", "slug": "ctag2" }, { "symbol": "GAB3", "ensemblId": "ENSG00000160219", "biotype": "protein_coding", "start": 154675249, "end": 154751583, "strand": "-", "slug": "gab3" }, { "symbol": "DKC1", "ensemblId": "ENSG00000130826", "biotype": "protein_coding", "start": 154762741, "end": 154777697, "strand": "+", "slug": "dkc1" }, { "symbol": "MPP1", "ensemblId": "ENSG00000130830", "biotype": "protein_coding", "start": 154778684, "end": 154821039, "strand": "-", "slug": "mpp1" }, { "symbol": "SMIM9", "ensemblId": "ENSG00000203870", "biotype": "protein_coding", "start": 154823348, "end": 154834662, "strand": "-", "slug": "smim9" }, { "symbol": "F8", "ensemblId": "ENSG00000185010", "biotype": "protein_coding", "start": 154835788, "end": 155026940, "strand": "-", "slug": "f8" }, { "symbol": "H2AB1", "ensemblId": "ENSG00000274183", "biotype": "protein_coding", "start": 154884972, "end": 154885558, "strand": "+", "slug": "h2ab1" }, { "symbol": "F8A1", "ensemblId": "ENSG00000288722", "biotype": "protein_coding", "start": 154886355, "end": 154888061, "strand": "+", "slug": "f8a1" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-hand-morphology", "name": "Abnormal shape of hand", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/abnormal-hand-morphology" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }