{ "url": "https://dantelabs.com/sv/genes/sv2a", "gene": { "slug": "sv2a", "symbol": "SV2A", "name": "synaptic vesicle glycoprotein 2A", "hgnc": "HGNC:20566", "summary": null, "location": "1q21.2", "locusType": "gene with protein product", "aliases": [ "SV2", "KIAA0736", "SLC22B1" ], "previousSymbols": [], "ensemblId": "ENSG00000159164", "entrezId": 9900, "omim": [ "185860" ], "uniprot": [ "Q7L0J3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 149903318, "end": 149917844, "strand": "-", "ensemblTranscript": "ENST00000369146.8", "refseqTranscript": "NM_014849.5", "ensemblProtein": "ENSP00000358142.3", "refseqProtein": "NP_055664.3", "exons": [ { "start": 149903318, "end": 149905197 }, { "start": 149905880, "end": 149906039 }, { "start": 149906650, "end": 149906856 }, { "start": 149907700, "end": 149907833 }, { "start": 149908042, "end": 149908206 }, { "start": 149909192, "end": 149909280 }, { "start": 149909461, "end": 149909571 }, { "start": 149909801, "end": 149909890 }, { "start": 149910570, "end": 149910703 }, { "start": 149910826, "end": 149910977 }, { "start": 149911800, "end": 149911980 }, { "start": 149913219, "end": 149914187 }, { "start": 149917739, "end": 149917844 } ], "cds": { "start": 149905014, "end": 149913840 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 149874870, "end": 149889434, "strand": "-" }, "neighbourhood": { "release": "116", "start": 149410581, "end": 150410580, "genes": [ { "symbol": "NOTCH2NLC", "ensemblId": "ENSG00000286219", "biotype": "protein_coding", "start": 149390534, "end": 149471833, "strand": "+", "slug": "notch2nlc" }, { "symbol": "", "ensemblId": "ENSG00000286185", "biotype": "protein_coding", "start": 149390623, "end": 149556361, "strand": "+" }, { "symbol": "NBPF19", "ensemblId": "ENSG00000271383", "biotype": "protein_coding", "start": 149474815, "end": 149556361, "strand": "+", "slug": "nbpf19" }, { "symbol": "PPIAL4C", "ensemblId": "ENSG00000288867", "biotype": "protein_coding", "start": 149583848, "end": 149584607, "strand": "+", "slug": "ppial4c" }, { "symbol": "FCGR1A", "ensemblId": "ENSG00000150337", "biotype": "protein_coding", "start": 149734951, "end": 149792526, "strand": "+", "slug": "fcgr1a" }, { "symbol": "H2BC18", "ensemblId": "ENSG00000203814", "biotype": "protein_coding", "start": 149755110, "end": 149812374, "strand": "-", "slug": "h2bc18" }, { "symbol": "H3C13", "ensemblId": "ENSG00000183598", "biotype": "protein_coding", "start": 149813225, "end": 149813693, "strand": "-", "slug": "h3c13" }, { "symbol": "H4C14", "ensemblId": "ENSG00000270882", "biotype": "protein_coding", "start": 149832657, "end": 149839767, "strand": "+", "slug": "h4c14" }, { "symbol": "H3C14", "ensemblId": "ENSG00000203811", "biotype": "protein_coding", "start": 149840687, "end": 149841208, "strand": "-", "slug": "h3c14" }, { "symbol": "H2AC18", "ensemblId": "ENSG00000288825", "biotype": "protein_coding", "start": 149842218, "end": 149842750, "strand": "-", "slug": "h2ac18" }, { "symbol": "H2AC19", "ensemblId": "ENSG00000288859", "biotype": "protein_coding", "start": 149851061, "end": 149851652, "strand": "+", "slug": "h2ac19" }, { "symbol": "H3C15", "ensemblId": "ENSG00000203852", "biotype": "protein_coding", "start": 149852608, "end": 149853125, "strand": "+", "slug": "h3c15" }, { "symbol": "H4C15", "ensemblId": "ENSG00000270276", "biotype": "protein_coding", "start": 149854045, "end": 149861159, "strand": "-", "slug": "h4c15" }, { "symbol": "H2BC21", "ensemblId": "ENSG00000184678", "biotype": "protein_coding", "start": 149884459, "end": 149886682, "strand": "-", "slug": "h2bc21" }, { "symbol": "BOLA1", "ensemblId": "ENSG00000178096", "biotype": "protein_coding", "start": 149886406, "end": 149900798, "strand": "+", "slug": "bola1" }, { "symbol": "H2AC20", "ensemblId": "ENSG00000184260", "biotype": "protein_coding", "start": 149886918, "end": 149887411, "strand": "+", "slug": "h2ac20" }, { "symbol": "H2AC21", "ensemblId": "ENSG00000184270", "biotype": "protein_coding", "start": 149887469, "end": 149887965, "strand": "-", "slug": "h2ac21" }, { "symbol": "SF3B4", "ensemblId": "ENSG00000143368", "biotype": "protein_coding", "start": 149923317, "end": 149928268, "strand": "-", "slug": "sf3b4" }, { "symbol": "MTMR11", "ensemblId": "ENSG00000014914", "biotype": "protein_coding", "start": 149928650, "end": 149937534, "strand": "-", "slug": "mtmr11" }, { "symbol": "OTUD7B", "ensemblId": "ENSG00000264522", "biotype": "protein_coding", "start": 149937812, "end": 150010758, "strand": "-", "slug": "otud7b" }, { "symbol": "VPS45", "ensemblId": "ENSG00000136631", "biotype": "protein_coding", "start": 150067279, "end": 150145329, "strand": "+", "slug": "vps45" }, { "symbol": "PLEKHO1", "ensemblId": "ENSG00000023902", "biotype": "protein_coding", "start": 150149183, "end": 150164720, "strand": "+", "slug": "plekho1" }, { "symbol": "ANP32E", "ensemblId": "ENSG00000143401", "biotype": "protein_coding", "start": 150217463, "end": 150236202, "strand": "-", "slug": "anp32e" }, { "symbol": "CA14", "ensemblId": "ENSG00000118298", "biotype": "protein_coding", "start": 150257069, "end": 150265078, "strand": "+", "slug": "ca14" }, { "symbol": "APH1A", "ensemblId": "ENSG00000117362", "biotype": "protein_coding", "start": 150265042, "end": 150269580, "strand": "-", "slug": "aph1a" }, { "symbol": "C1orf54", "ensemblId": "ENSG00000118292", "biotype": "protein_coding", "start": 150268034, "end": 150281744, "strand": "+", "slug": "c1orf54" }, { "symbol": "CIART", "ensemblId": "ENSG00000159208", "biotype": "protein_coding", "start": 150282527, "end": 150287093, "strand": "+", "slug": "ciart" }, { "symbol": "MRPS21", "ensemblId": "ENSG00000266472", "biotype": "protein_coding", "start": 150293848, "end": 150309828, "strand": "+", "slug": "mrps21" }, { "symbol": "PRPF3", "ensemblId": "ENSG00000117360", "biotype": "protein_coding", "start": 150321476, "end": 150353341, "strand": "+", "slug": "prpf3" }, { "symbol": "RPRD2", "ensemblId": "ENSG00000163125", "biotype": "protein_coding", "start": 150363091, "end": 150476999, "strand": "+", "slug": "rprd2" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ankle-clonus", "name": "Abnormal rhythmic movements of ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-clonus" }, { "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": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "eeg-with-burst-suppression", "name": "EEG with burst suppression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-burst-suppression" }, { "slug": "elevated-brain-lactate-level-by-mrs", "name": "Elevated brain lactate level by MRS", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "interictal-eeg-abnormality", "name": "Interictal EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/interictal-eeg-abnormality" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "opisthotonus", "name": "Opisthotonus", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/opisthotonus" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "reduced-brain-n-acetyl-aspartate-level-by-mrs", "name": "Reduced brain N-acetyl aspartate level by MRS", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-brain-n-acetyl-aspartate-level-by-mrs" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "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": [] } }