{ "url": "https://dantelabs.com/nl/genes/qars1", "gene": { "slug": "qars1", "symbol": "QARS1", "name": "glutaminyl-tRNA synthetase 1", "hgnc": "HGNC:9751", "summary": null, "location": "3p21.31", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "QARS" ], "ensemblId": "ENSG00000172053", "entrezId": 5859, "omim": [ "603727" ], "uniprot": [ "P47897" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 49095932, "end": 49104757, "strand": "-", "ensemblTranscript": "ENST00000306125.12", "refseqTranscript": "NM_005051.3", "ensemblProtein": "ENSP00000307567.6", "refseqProtein": "NP_005042.1", "exons": [ { "start": 49095932, "end": 49096079 }, { "start": 49097992, "end": 49098117 }, { "start": 49098192, "end": 49098258 }, { "start": 49098353, "end": 49098480 }, { "start": 49098600, "end": 49098692 }, { "start": 49098885, "end": 49098989 }, { "start": 49099110, "end": 49099253 }, { "start": 49099344, "end": 49099431 }, { "start": 49099510, "end": 49099647 }, { "start": 49099761, "end": 49099853 }, { "start": 49099961, "end": 49100091 }, { "start": 49100190, "end": 49100298 }, { "start": 49100380, "end": 49100458 }, { "start": 49100575, "end": 49100674 }, { "start": 49101355, "end": 49101441 }, { "start": 49101620, "end": 49101705 }, { "start": 49101828, "end": 49101899 }, { "start": 49102205, "end": 49102265 }, { "start": 49102419, "end": 49102472 }, { "start": 49103345, "end": 49103409 }, { "start": 49103631, "end": 49103706 }, { "start": 49103863, "end": 49103972 }, { "start": 49104324, "end": 49104471 }, { "start": 49104617, "end": 49104757 } ], "cds": { "start": 49096029, "end": 49104733 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 49133365, "end": 49142553, "strand": "-" }, "neighbourhood": { "release": "116", "start": 48600345, "end": 49600344, "genes": [ { "symbol": "UQCRC1", "ensemblId": "ENSG00000010256", "biotype": "protein_coding", "start": 48598990, "end": 48610976, "strand": "-", "slug": "uqcrc1" }, { "symbol": "TMEM89", "ensemblId": "ENSG00000183396", "biotype": "protein_coding", "start": 48620759, "end": 48621769, "strand": "-", "slug": "tmem89" }, { "symbol": "SLC26A6", "ensemblId": "ENSG00000225697", "biotype": "protein_coding", "start": 48625718, "end": 48635510, "strand": "-", "slug": "slc26a6" }, { "symbol": "CELSR3", "ensemblId": "ENSG00000008300", "biotype": "protein_coding", "start": 48636463, "end": 48662886, "strand": "-", "slug": "celsr3" }, { "symbol": "NCKIPSD", "ensemblId": "ENSG00000213672", "biotype": "protein_coding", "start": 48662986, "end": 48686364, "strand": "-", "slug": "nckipsd" }, { "symbol": "IP6K2", "ensemblId": "ENSG00000068745", "biotype": "protein_coding", "start": 48688003, "end": 48740353, "strand": "-", "slug": "ip6k2" }, { "symbol": "PRKAR2A", "ensemblId": "ENSG00000114302", "biotype": "protein_coding", "start": 48744591, "end": 48847894, "strand": "-", "slug": "prkar2a" }, { "symbol": "SLC25A20", "ensemblId": "ENSG00000178537", "biotype": "protein_coding", "start": 48856926, "end": 48898993, "strand": "-", "slug": "slc25a20" }, { "symbol": "ARIH2", "ensemblId": "ENSG00000177479", "biotype": "protein_coding", "start": 48918217, "end": 48986382, "strand": "+", "slug": "arih2" }, { "symbol": "P4HTM", "ensemblId": "ENSG00000178467", "biotype": "protein_coding", "start": 48989858, "end": 49007153, "strand": "+", "slug": "p4htm" }, { "symbol": "WDR6", "ensemblId": "ENSG00000178252", "biotype": "protein_coding", "start": 49007062, "end": 49015953, "strand": "+", "slug": "wdr6" }, { "symbol": "DALRD3", "ensemblId": "ENSG00000178149", "biotype": "protein_coding", "start": 49015474, "end": 49022293, "strand": "-", "slug": "dalrd3" }, { "symbol": "NDUFAF3", "ensemblId": "ENSG00000178057", "biotype": "protein_coding", "start": 49020459, "end": 49027593, "strand": "+", "slug": "ndufaf3" }, { "symbol": "IMPDH2", "ensemblId": "ENSG00000178035", "biotype": "protein_coding", "start": 49024315, "end": 49029452, "strand": "-", "slug": "impdh2" }, { "symbol": "", "ensemblId": "ENSG00000290315", "biotype": "protein_coding", "start": 49024345, "end": 49094071, "strand": "-" }, { "symbol": "QRICH1", "ensemblId": "ENSG00000198218", "biotype": "protein_coding", "start": 49029700, "end": 49094545, "strand": "-", "slug": "qrich1" }, { "symbol": "USP19", "ensemblId": "ENSG00000172046", "biotype": "protein_coding", "start": 49105758, "end": 49120940, "strand": "-", "slug": "usp19" }, { "symbol": "LAMB2", "ensemblId": "ENSG00000172037", "biotype": "protein_coding", "start": 49121113, "end": 49133118, "strand": "-", "slug": "lamb2" }, { "symbol": "CCDC71", "ensemblId": "ENSG00000177352", "biotype": "protein_coding", "start": 49161063, "end": 49166357, "strand": "-", "slug": "ccdc71" }, { "symbol": "KLHDC8B", "ensemblId": "ENSG00000185909", "biotype": "protein_coding", "start": 49171239, "end": 49176487, "strand": "+", "slug": "klhdc8b" }, { "symbol": "CIMIP7", "ensemblId": "ENSG00000236980", "biotype": "protein_coding", "start": 49177634, "end": 49191858, "strand": "-", "slug": "cimip7" }, { "symbol": "IHO1", "ensemblId": "ENSG00000173421", "biotype": "protein_coding", "start": 49198428, "end": 49277629, "strand": "+", "slug": "iho1" }, { "symbol": "C3orf62", "ensemblId": "ENSG00000188315", "biotype": "protein_coding", "start": 49268596, "end": 49277236, "strand": "-", "slug": "c3orf62" }, { "symbol": "USP4", "ensemblId": "ENSG00000114316", "biotype": "protein_coding", "start": 49277144, "end": 49340712, "strand": "-", "slug": "usp4" }, { "symbol": "GPX1", "ensemblId": "ENSG00000233276", "biotype": "protein_coding", "start": 49357174, "end": 49358605, "strand": "-", "slug": "gpx1" }, { "symbol": "", "ensemblId": "ENSG00000290318", "biotype": "protein_coding", "start": 49357176, "end": 49412051, "strand": "-" }, { "symbol": "RHOA", "ensemblId": "ENSG00000067560", "biotype": "protein_coding", "start": 49359136, "end": 49412998, "strand": "-", "slug": "rhoa" }, { "symbol": "TCTA", "ensemblId": "ENSG00000145022", "biotype": "protein_coding", "start": 49412212, "end": 49455826, "strand": "+", "slug": "tcta" }, { "symbol": "AMT", "ensemblId": "ENSG00000145020", "biotype": "protein_coding", "start": 49416771, "end": 49422685, "strand": "-", "slug": "amt" }, { "symbol": "", "ensemblId": "ENSG00000283189", "biotype": "protein_coding", "start": 49416777, "end": 49429314, "strand": "-" }, { "symbol": "NICN1", "ensemblId": "ENSG00000145029", "biotype": "protein_coding", "start": 49422333, "end": 49429331, "strand": "-", "slug": "nicn1" }, { "symbol": "DAG1", "ensemblId": "ENSG00000173402", "biotype": "protein_coding", "start": 49468649, "end": 49535624, "strand": "+", "slug": "dag1" }, { "symbol": "BSN", "ensemblId": "ENSG00000164061", "biotype": "protein_coding", "start": 49554477, "end": 49671549, "strand": "+", "slug": "bsn" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cns-hypomyelination", "name": "CNS hypomyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cns-hypomyelination" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "profound-global-developmental-delay", "name": "Profound global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/profound-global-developmental-delay" }, { "slug": "progressive-microcephaly", "name": "Progressively abnormally small cranium", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-microcephaly" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "simplified-gyral-pattern", "name": "Simplified gyral pattern", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/simplified-gyral-pattern" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }