{ "url": "https://dantelabs.com/et/genes/col27a1", "gene": { "slug": "col27a1", "symbol": "COL27A1", "name": "collagen type XXVII alpha 1 chain", "hgnc": "HGNC:22986", "summary": null, "location": "9q32", "locusType": "gene with protein product", "aliases": [ "KIAA1870", "MGC11337", "FLJ11895" ], "previousSymbols": [], "ensemblId": "ENSG00000196739", "entrezId": 85301, "omim": [ "608461" ], "uniprot": [ "Q8IZC6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 114155537, "end": 114312511, "strand": "+", "ensemblTranscript": "ENST00000356083.8", "refseqTranscript": "NM_032888.4", "ensemblProtein": "ENSP00000348385.3", "refseqProtein": "NP_116277.2", "exons": [ { "start": 114155537, "end": 114156012 }, { "start": 114162715, "end": 114162785 }, { "start": 114167689, "end": 114169463 }, { "start": 114178291, "end": 114178344 }, { "start": 114183022, "end": 114183075 }, { "start": 114194404, "end": 114194457 }, { "start": 114195959, "end": 114196012 }, { "start": 114205102, "end": 114205146 }, { "start": 114205759, "end": 114205812 }, { "start": 114206252, "end": 114206296 }, { "start": 114209675, "end": 114209728 }, { "start": 114210982, "end": 114211026 }, { "start": 114219791, "end": 114219844 }, { "start": 114222223, "end": 114222267 }, { "start": 114231079, "end": 114231132 }, { "start": 114231822, "end": 114231866 }, { "start": 114235599, "end": 114235652 }, { "start": 114236981, "end": 114237034 }, { "start": 114237662, "end": 114237715 }, { "start": 114240220, "end": 114240273 }, { "start": 114240434, "end": 114240487 }, { "start": 114242187, "end": 114242231 }, { "start": 114243507, "end": 114243560 }, { "start": 114245866, "end": 114245910 }, { "start": 114250615, "end": 114250668 }, { "start": 114252593, "end": 114252646 }, { "start": 114252879, "end": 114252932 }, { "start": 114258541, "end": 114258594 }, { "start": 114264355, "end": 114264408 }, { "start": 114264924, "end": 114264968 }, { "start": 114265066, "end": 114265110 }, { "start": 114265422, "end": 114265475 }, { "start": 114266565, "end": 114266618 }, { "start": 114267504, "end": 114267557 }, { "start": 114269241, "end": 114269294 }, { "start": 114270728, "end": 114270781 }, { "start": 114275661, "end": 114275768 }, { "start": 114282277, "end": 114282330 }, { "start": 114282457, "end": 114282564 }, { "start": 114283709, "end": 114283762 }, { "start": 114284724, "end": 114284777 }, { "start": 114288455, "end": 114288511 }, { "start": 114288702, "end": 114288755 }, { "start": 114288914, "end": 114288967 }, { "start": 114289242, "end": 114289295 }, { "start": 114290058, "end": 114290111 }, { "start": 114290224, "end": 114290331 }, { "start": 114290810, "end": 114290917 }, { "start": 114292103, "end": 114292210 }, { "start": 114300070, "end": 114300123 }, { "start": 114300625, "end": 114300687 }, { "start": 114301072, "end": 114301125 }, { "start": 114301284, "end": 114301319 }, { "start": 114301445, "end": 114301462 }, { "start": 114301682, "end": 114301717 }, { "start": 114302082, "end": 114302108 }, { "start": 114304608, "end": 114304673 }, { "start": 114306520, "end": 114306688 }, { "start": 114307669, "end": 114307778 }, { "start": 114309260, "end": 114309478 }, { "start": 114310549, "end": 114312511 } ], "cds": { "start": 114155951, "end": 114310695 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 116917840, "end": 117074791, "strand": "+" }, "neighbourhood": { "release": "116", "start": 113734024, "end": 114734023, "genes": [ { "symbol": "ZNF618", "ensemblId": "ENSG00000157657", "biotype": "protein_coding", "start": 113876052, "end": 114056593, "strand": "+", "slug": "znf618" }, { "symbol": "AMBP", "ensemblId": "ENSG00000106927", "biotype": "protein_coding", "start": 114060127, "end": 114080970, "strand": "-", "slug": "ambp" }, { "symbol": "KIF12", "ensemblId": "ENSG00000136883", "biotype": "protein_coding", "start": 114086126, "end": 114099370, "strand": "-", "slug": "kif12" }, { "symbol": "ORM1", "ensemblId": "ENSG00000229314", "biotype": "protein_coding", "start": 114322951, "end": 114326970, "strand": "+", "slug": "orm1" }, { "symbol": "ORM2", "ensemblId": "ENSG00000228278", "biotype": "protein_coding", "start": 114329777, "end": 114333741, "strand": "+", "slug": "orm2" }, { "symbol": "AKNA", "ensemblId": "ENSG00000106948", "biotype": "protein_coding", "start": 114334156, "end": 114394405, "strand": "-", "slug": "akna" }, { "symbol": "WHRN", "ensemblId": "ENSG00000095397", "biotype": "protein_coding", "start": 114402078, "end": 114505530, "strand": "-", "slug": "whrn" }, { "symbol": "ATP6V1G1", "ensemblId": "ENSG00000136888", "biotype": "protein_coding", "start": 114587572, "end": 114598915, "strand": "+", "slug": "atp6v1g1" }, { "symbol": "TMEM268", "ensemblId": "ENSG00000157693", "biotype": "protein_coding", "start": 114611206, "end": 114646422, "strand": "+", "slug": "tmem268" }, { "symbol": "TEX53", "ensemblId": "ENSG00000230054", "biotype": "protein_coding", "start": 114656302, "end": 114662374, "strand": "-", "slug": "tex53" }, { "symbol": "TEX48", "ensemblId": "ENSG00000230601", "biotype": "protein_coding", "start": 114666434, "end": 114682192, "strand": "-", "slug": "tex48" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "coxa-vara", "name": "Coxa vara", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coxa-vara" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "dislocated-radial-head", "name": "Dislocated radial head", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dislocated-radial-head" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "carpal-synostosis", "name": "Fused wrist bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/carpal-synostosis" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "limited-elbow-extension", "name": "Limited elbow extension", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }