{ "url": "https://dantelabs.com/ko/genes/znf526", "gene": { "slug": "znf526", "symbol": "ZNF526", "name": "zinc finger protein 526", "hgnc": "HGNC:29415", "summary": null, "location": "19q13.2", "locusType": "gene with protein product", "aliases": [ "KIAA1951", "MGC4267" ], "previousSymbols": [], "ensemblId": "ENSG00000167625", "entrezId": 116115, "omim": [ "614387" ], "uniprot": [ "Q8TF50" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 42220312, "end": 42228201, "strand": "+", "ensemblTranscript": "ENST00000301215.8", "refseqTranscript": "NM_133444.3", "ensemblProtein": "ENSP00000301215.2", "refseqProtein": "NP_597701.1", "exons": [ { "start": 42220312, "end": 42220387 }, { "start": 42224215, "end": 42224305 }, { "start": 42224387, "end": 42228201 } ], "cds": { "start": 42224404, "end": 42226416 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 42724423, "end": 42732353, "strand": "+" }, "neighbourhood": { "release": "116", 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"ENSG00000105427", "biotype": "protein_coding", "start": 42387019, "end": 42390299, "strand": "-", "slug": "cnfn" }, { "symbol": "LIPE", "ensemblId": "ENSG00000079435", "biotype": "protein_coding", "start": 42401497, "end": 42427388, "strand": "-", "slug": "lipe" }, { "symbol": "CXCL17", "ensemblId": "ENSG00000189377", "biotype": "protein_coding", "start": 42427995, "end": 42443029, "strand": "-", "slug": "cxcl17" }, { "symbol": "CEACAM1", "ensemblId": "ENSG00000079385", "biotype": "protein_coding", "start": 42507230, "end": 42561234, "strand": "-", "slug": "ceacam1" }, { "symbol": "CEACAM8", "ensemblId": "ENSG00000124469", "biotype": "protein_coding", "start": 42580243, "end": 42595055, "strand": "-", "slug": "ceacam8" }, { "symbol": "PSG3", "ensemblId": "ENSG00000221826", "biotype": "protein_coding", "start": 42709084, "end": 42740524, "strand": "-", "slug": "psg3" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "epileptic-spasm", "name": "Epileptic spasm", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epileptic-spasm" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "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": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "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": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "motor-stereotypy", "name": "Repetitive movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-stereotypy" }, { "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": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "widely-spaced-teeth", "name": "Widely spaced teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/widely-spaced-teeth" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }