{ "url": "https://dantelabs.com/ko/genes/syn1", "gene": { "slug": "syn1", "symbol": "SYN1", "name": "synapsin I", "hgnc": "HGNC:11494", "summary": null, "location": "Xp11.3-p11.23", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "MRX50" ], "ensemblId": "ENSG00000008056", "entrezId": 6853, "omim": [ "313440" ], "uniprot": [ "P17600" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 47571901, "end": 47619857, "strand": "-", "ensemblTranscript": "ENST00000295987.13", "refseqTranscript": "NM_006950.3", "ensemblProtein": "ENSP00000295987.7", "refseqProtein": "NP_008881.2", "exons": [ { "start": 47571901, "end": 47572999 }, { "start": 47574002, "end": 47574590 }, { "start": 47574688, "end": 47574775 }, { "start": 47575128, "end": 47575274 }, { "start": 47576131, "end": 47576233 }, { "start": 47576332, "end": 47576406 }, { "start": 47576498, "end": 47576640 }, { "start": 47577439, "end": 47577501 }, { "start": 47604978, "end": 47605067 }, { "start": 47605223, "end": 47605379 }, { "start": 47606945, "end": 47607036 }, { "start": 47607141, "end": 47607198 }, { "start": 47619352, "end": 47619857 } ], "cds": { "start": 47572864, "end": 47619728 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 47431303, "end": 47479252, "strand": "-" }, "neighbourhood": { "release": "116", "start": 47095879, "end": 48095878, "genes": [ { "symbol": "RGN", "ensemblId": "ENSG00000130988", "biotype": "protein_coding", "start": 47061388, "end": 47096431, "strand": "+", "slug": "rgn" }, { "symbol": "NDUFB11", "ensemblId": "ENSG00000147123", "biotype": "protein_coding", "start": 47142071, "end": 47145507, "strand": "-", "slug": "ndufb11" }, { "symbol": "RBM10", "ensemblId": "ENSG00000182872", "biotype": "protein_coding", "start": 47144284, "end": 47186814, "strand": "+", "slug": "rbm10" }, { "symbol": "UBA1", "ensemblId": "ENSG00000130985", "biotype": "protein_coding", "start": 47190713, "end": 47215173, "strand": "+", "slug": "uba1" }, { "symbol": "CDK16", "ensemblId": "ENSG00000102225", "biotype": "protein_coding", "start": 47217860, "end": 47230000, "strand": "+", "slug": "cdk16" }, { "symbol": "USP11", "ensemblId": "ENSG00000102226", "biotype": "protein_coding", "start": 47232866, "end": 47248328, "strand": "+", "slug": "usp11" }, { "symbol": "ZNF157", "ensemblId": "ENSG00000147117", "biotype": "protein_coding", "start": 47366479, "end": 47414624, "strand": "+", "slug": "znf157" }, { "symbol": "ZNF41", "ensemblId": "ENSG00000147124", "biotype": "protein_coding", "start": 47444693, "end": 47483247, "strand": "-", "slug": "znf41" }, { "symbol": "ARAF", "ensemblId": "ENSG00000078061", "biotype": "protein_coding", "start": 47561043, "end": 47571921, "strand": "+", "slug": "araf" }, { "symbol": "TIMP1", "ensemblId": "ENSG00000102265", "biotype": "protein_coding", "start": 47582227, "end": 47586793, "strand": "+", "slug": "timp1" }, { "symbol": "CFP", "ensemblId": "ENSG00000126759", "biotype": "protein_coding", "start": 47621537, "end": 47630305, "strand": "-", "slug": "cfp" }, { "symbol": "ELK1", "ensemblId": "ENSG00000126767", "biotype": "protein_coding", "start": 47631617, "end": 47650604, "strand": "-", "slug": "elk1" }, { "symbol": "UXT", "ensemblId": "ENSG00000126756", "biotype": "protein_coding", "start": 47651792, "end": 47659301, "strand": "-", "slug": "uxt" }, { "symbol": "ZNF81", "ensemblId": "ENSG00000197779", "biotype": "protein_coding", "start": 47836471, "end": 48003066, "strand": "+", "slug": "znf81" }, { "symbol": "ZNF182", "ensemblId": "ENSG00000147118", "biotype": "protein_coding", "start": 47974851, "end": 48004375, "strand": "-", "slug": "znf182" }, { "symbol": "ZNF630", "ensemblId": "ENSG00000221994", "biotype": "protein_coding", "start": 47983356, "end": 48071893, "strand": "-", "slug": "znf630" }, { "symbol": "SPACA5", "ensemblId": "ENSG00000171489", "biotype": "protein_coding", "start": 48004336, "end": 48009735, "strand": "+", "slug": "spaca5" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "간질(전체 패널)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "X 연관 복합 신경발달장애", "genes": 25, "inheritance": null, "description": "X 연관 유전 방식으로 전달되며, 지적 장애, 자폐 및 간질을 특징으로 하는 복합 신경발달장애입니다.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0005027", "name": "간질", "genes": 171, "inheritance": null, "description": "신경세포의 비정상적인 과다 방전으로 인해 일시적인 감각 또는 운동 신경 기능 장애나 정신 기능 장애가 나타나는 뇌 질환입니다. 이러한 발작은 의식 소실이나 경련을 동반할 수도 있고 동반하지 않을 수도 있습니다.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "지적 장애", "diseases": [ { "mondoId": "MONDO:0001071", "name": "지적 장애", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" } ], "related": [ { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 3, "url": "https://dantelabs.com/ko/genes/arhgef9" }, { "slug": "pcdh19", "symbol": "PCDH19", "name": "protocadherin 19", "shared": 3, "url": "https://dantelabs.com/ko/genes/pcdh19" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 2, "url": "https://dantelabs.com/ko/genes/arx" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/ko/genes/atp6ap2" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/ko/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/ko/genes/cnksr2" }, { "slug": "fgf13", "symbol": "FGF13", "name": "fibroblast growth factor 13", "shared": 2, "url": "https://dantelabs.com/ko/genes/fgf13" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/ko/genes/frmpd4" }, { "slug": "ftsj1", "symbol": "FTSJ1", "name": "FtsJ RNA 2'-O-methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/ko/genes/ftsj1" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/ko/genes/gria3" }, { "slug": "grin1", "symbol": "GRIN1", "name": "glutamate ionotropic receptor NMDA type subunit 1", "shared": 2, "url": "https://dantelabs.com/ko/genes/grin1" }, { "slug": "grin2b", "symbol": "GRIN2B", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "shared": 2, "url": "https://dantelabs.com/ko/genes/grin2b" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }