{ "url": "https://dantelabs.com/fi/genes/mast1", "gene": { "slug": "mast1", "symbol": "MAST1", "name": "microtubule associated serine/threonine kinase 1", "hgnc": "HGNC:19034", "summary": null, "location": "19p13.13", "locusType": "gene with protein product", "aliases": [ "SAST", "KIAA0973" ], "previousSymbols": [], "ensemblId": "ENSG00000105613", "entrezId": 22983, "omim": [ "612256" ], "uniprot": [ "Q9Y2H9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 12838515, "end": 12874952, "strand": "+", "ensemblTranscript": "ENST00000251472.9", "refseqTranscript": "NM_014975.3", "ensemblProtein": "ENSP00000251472.3", "refseqProtein": "NP_055790.1", "exons": [ { "start": 12838515, "end": 12838655 }, { "start": 12840446, "end": 12840534 }, { "start": 12840991, "end": 12841066 }, { "start": 12843529, "end": 12843607 }, { "start": 12847290, "end": 12847450 }, { "start": 12847612, "end": 12847687 }, { "start": 12847848, "end": 12848057 }, { "start": 12851934, "end": 12852035 }, { "start": 12852115, "end": 12852247 }, { "start": 12852328, "end": 12852395 }, { "start": 12858362, "end": 12858441 }, { "start": 12858531, "end": 12858739 }, { "start": 12864809, "end": 12864947 }, { "start": 12865046, "end": 12865178 }, { "start": 12865316, "end": 12865481 }, { "start": 12865717, "end": 12865818 }, { "start": 12865980, "end": 12866102 }, { "start": 12866653, "end": 12866762 }, { "start": 12867474, "end": 12867652 }, { "start": 12867730, "end": 12867977 }, { "start": 12868643, "end": 12868849 }, { "start": 12869066, "end": 12869295 }, { "start": 12870824, "end": 12870946 }, { "start": 12871036, "end": 12871172 }, { "start": 12873324, "end": 12873511 }, { "start": 12873609, "end": 12874952 } ], "cds": { "start": 12838573, "end": 12874870 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 12944765, "end": 12985765, "strand": "+" }, "neighbourhood": { "release": "116", "start": 12356734, "end": 13356733, "genes": [ { "symbol": "ZNF442", "ensemblId": "ENSG00000198342", "biotype": "protein_coding", "start": 12345944, "end": 12365905, "strand": "-", "slug": "znf442" }, { "symbol": "ZNF799", "ensemblId": "ENSG00000196466", "biotype": "protein_coding", "start": 12390016, "end": 12401280, "strand": "-", "slug": "znf799" }, { "symbol": "", "ensemblId": "ENSG00000268870", "biotype": "protein_coding", "start": 12391949, "end": 12441082, "strand": "-" }, { "symbol": "ZNF443", "ensemblId": "ENSG00000180855", "biotype": "protein_coding", "start": 12429706, "end": 12441021, "strand": "-", "slug": "znf443" }, { "symbol": "", "ensemblId": "ENSG00000269755", "biotype": "protein_coding", "start": 12433103, "end": 12484816, "strand": "-" }, { "symbol": "ZNF709", "ensemblId": "ENSG00000242852", "biotype": "protein_coding", "start": 12461184, "end": 12513854, "strand": "-", "slug": "znf709" }, { "symbol": "", "ensemblId": "ENSG00000196826", "biotype": "protein_coding", "start": 12461559, "end": 12551474, "strand": "-" }, { "symbol": "ZNF564", "ensemblId": "ENSG00000249709", "biotype": "protein_coding", "start": 12524903, "end": 12551542, "strand": "-", "slug": "znf564" }, { "symbol": "", "ensemblId": "ENSG00000269693", "biotype": "protein_coding", "start": 12525720, "end": 12580975, "strand": "-" }, { "symbol": "ZNF490", "ensemblId": "ENSG00000188033", "biotype": "protein_coding", "start": 12575832, "end": 12640098, "strand": "-", "slug": "znf490" }, { "symbol": "ZNF791", "ensemblId": "ENSG00000173875", "biotype": "protein_coding", "start": 12610916, "end": 12633840, "strand": "+", "slug": "znf791" }, { "symbol": "MAN2B1", "ensemblId": "ENSG00000104774", "biotype": "protein_coding", "start": 12643831, "end": 12666762, "strand": "-", "slug": "man2b1" }, { "symbol": "", "ensemblId": "ENSG00000269242", "biotype": "protein_coding", "start": 12643831, "end": 12648397, "strand": "-" }, { "symbol": "", "ensemblId": "ENSG00000269590", "biotype": "protein_coding", "start": 12664828, "end": 12669397, "strand": "-" }, { "symbol": "WDR83", "ensemblId": "ENSG00000123154", "biotype": "protein_coding", "start": 12666802, "end": 12675832, "strand": "+", "slug": "wdr83" }, { "symbol": "WDR83OS", "ensemblId": "ENSG00000105583", "biotype": "protein_coding", "start": 12668065, "end": 12669467, "strand": "-", "slug": "wdr83os" }, { "symbol": "", "ensemblId": "ENSG00000285589", "biotype": "protein_coding", "start": 12668071, "end": 12681834, "strand": "-" }, { "symbol": "DHPS", "ensemblId": "ENSG00000095059", "biotype": "protein_coding", "start": 12673411, "end": 12681901, "strand": "-", "slug": "dhps" }, { "symbol": "FBXW9", "ensemblId": "ENSG00000132004", "biotype": "protein_coding", "start": 12687801, "end": 12696659, "strand": "-", "slug": "fbxw9" }, { "symbol": "GNG14", "ensemblId": "ENSG00000283980", "biotype": "protein_coding", "start": 12687998, "end": 12688422, "strand": "+", "slug": "gng14" }, { "symbol": "TNPO2", "ensemblId": "ENSG00000105576", "biotype": "protein_coding", "start": 12699111, "end": 12724011, "strand": "-", "slug": "tnpo2" }, { "symbol": "TRIR", "ensemblId": "ENSG00000123144", "biotype": "protein_coding", "start": 12730640, "end": 12734747, "strand": "-", "slug": "trir" }, { "symbol": "GET3", "ensemblId": "ENSG00000198356", "biotype": "protein_coding", "start": 12737139, "end": 12748325, "strand": "+", "slug": "get3" }, { "symbol": "BEST2", "ensemblId": "ENSG00000039987", "biotype": "protein_coding", "start": 12751673, "end": 12758458, "strand": "+", "slug": "best2" }, { "symbol": "HOOK2", "ensemblId": "ENSG00000095066", "biotype": "protein_coding", "start": 12762640, "end": 12872740, "strand": "-", "slug": "hook2" }, { "symbol": "JUNB", "ensemblId": "ENSG00000171223", "biotype": "protein_coding", "start": 12791486, "end": 12793315, "strand": "+", "slug": "junb" }, { "symbol": "PRDX2", "ensemblId": "ENSG00000167815", "biotype": "protein_coding", "start": 12796817, "end": 12801882, "strand": "-", "slug": "prdx2" }, { "symbol": "THSD8", "ensemblId": "ENSG00000284491", "biotype": "protein_coding", "start": 12802031, "end": 12813581, "strand": "+", "slug": "thsd8" }, { "symbol": "RNASEH2A", "ensemblId": "ENSG00000104889", "biotype": "protein_coding", "start": 12806505, "end": 12813644, "strand": "+", "slug": "rnaseh2a" }, { "symbol": "RTBDN", "ensemblId": "ENSG00000132026", "biotype": "protein_coding", "start": 12825477, "end": 12838362, "strand": "-", "slug": "rtbdn" }, { "symbol": "DNASE2", "ensemblId": "ENSG00000105612", "biotype": "protein_coding", "start": 12875209, "end": 12881595, "strand": "-", "slug": "dnase2" }, { "symbol": "KLF1", "ensemblId": "ENSG00000105610", "biotype": "protein_coding", "start": 12884405, "end": 12887201, "strand": "-", "slug": "klf1" }, { "symbol": "GCDH", "ensemblId": "ENSG00000105607", "biotype": "protein_coding", "start": 12891128, "end": 12915261, "strand": "+", "slug": "gcdh" }, { "symbol": "SYCE2", "ensemblId": "ENSG00000161860", "biotype": "protein_coding", "start": 12898786, "end": 12919306, "strand": "-", "slug": "syce2" }, { "symbol": "FARSA", "ensemblId": "ENSG00000179115", "biotype": "protein_coding", "start": 12921138, "end": 12934037, "strand": "-", "slug": "farsa" }, { "symbol": "CALR", "ensemblId": "ENSG00000179218", "biotype": "protein_coding", "start": 12938578, "end": 12944525, "strand": "+", "slug": "calr" }, { "symbol": "RAD23A", "ensemblId": "ENSG00000179262", "biotype": "protein_coding", "start": 12945716, "end": 12953646, "strand": "+", "slug": "rad23a" }, { "symbol": "GADD45GIP1", "ensemblId": "ENSG00000179271", "biotype": "protein_coding", "start": 12950701, "end": 12957333, "strand": "-", "slug": "gadd45gip1" }, { "symbol": "DAND5", "ensemblId": "ENSG00000179284", "biotype": "protein_coding", "start": 12965159, "end": 12974760, "strand": "+", "slug": "dand5" }, { "symbol": "NFIX", "ensemblId": "ENSG00000008441", "biotype": "protein_coding", "start": 12995401, "end": 13098796, "strand": "+", "slug": "nfix" }, { "symbol": "LYL1", "ensemblId": "ENSG00000104903", "biotype": "protein_coding", "start": 13099028, "end": 13103188, "strand": "-", "slug": "lyl1" }, { "symbol": "TRMT1", "ensemblId": "ENSG00000104907", "biotype": "protein_coding", "start": 13104899, "end": 13117567, "strand": "-", "slug": "trmt1" }, { "symbol": "NACC1", "ensemblId": "ENSG00000160877", "biotype": "protein_coding", "start": 13116468, "end": 13141147, "strand": "+", "slug": "nacc1" }, { "symbol": "STX10", "ensemblId": "ENSG00000104915", "biotype": "protein_coding", "start": 13144058, "end": 13150383, "strand": "-", "slug": "stx10" }, { "symbol": "IER2", "ensemblId": "ENSG00000160888", "biotype": "protein_coding", "start": 13150403, "end": 13156981, "strand": "+", "slug": "ier2" }, { "symbol": "CACNA1A", "ensemblId": "ENSG00000141837", "biotype": "protein_coding", "start": 13206442, "end": 13624489, "strand": "-", "slug": "cacna1a" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "periventricular-heterotopia", "name": "Periventricular heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/periventricular-heterotopia" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "simplified-gyral-pattern", "name": "Simplified gyral pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/simplified-gyral-pattern" }, { "slug": "hypoplasia-of-the-brainstem", "name": "Small brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "thick-corpus-callosum", "name": "Thick corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-corpus-callosum" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }