{ "url": "https://dantelabs.com/lt/genes/st3gal3", "gene": { "slug": "st3gal3", "symbol": "ST3GAL3", "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3", "hgnc": "HGNC:10866", "summary": null, "location": "1p34.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "SIAT6", "MRT12" ], "ensemblId": "ENSG00000126091", "entrezId": 6487, "omim": [ "606494" ], "uniprot": [ "Q11203" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 43707536, "end": 43931159, "strand": "+", "ensemblTranscript": "ENST00000347631.8", "refseqTranscript": "NM_006279.5", "ensemblProtein": "ENSP00000317192.6", "refseqProtein": "NP_006270.1", "exons": [ { "start": 43707536, "end": 43707693 }, { "start": 43736233, "end": 43736380 }, { "start": 43792102, "end": 43792149 }, { "start": 43814891, "end": 43814933 }, { "start": 43838219, "end": 43838311 }, { "start": 43894383, "end": 43894477 }, { "start": 43898235, "end": 43898298 }, { "start": 43899168, "end": 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"-", "slug": "elovl1" }, { "symbol": "MED8", "ensemblId": "ENSG00000159479", "biotype": "protein_coding", "start": 43383906, "end": 43389823, "strand": "-", "slug": "med8" }, { "symbol": "SZT2", "ensemblId": "ENSG00000198198", "biotype": "protein_coding", "start": 43389882, "end": 43454247, "strand": "+", "slug": "szt2" }, { "symbol": "HYI", "ensemblId": "ENSG00000178922", "biotype": "protein_coding", "start": 43450597, "end": 43453999, "strand": "-", "slug": "hyi" }, { "symbol": "PTPRF", "ensemblId": "ENSG00000142949", "biotype": "protein_coding", "start": 43525086, "end": 43626579, "strand": "+", "slug": "ptprf" }, { "symbol": "KDM4A", "ensemblId": "ENSG00000066135", "biotype": "protein_coding", "start": 43649256, "end": 43705518, "strand": "+", "slug": "kdm4a" }, { "symbol": "", "ensemblId": "ENSG00000284989", "biotype": "protein_coding", "start": 43650149, "end": 43931014, "strand": "+" }, { "symbol": "ARTN", "ensemblId": "ENSG00000117407", "biotype": "protein_coding", "start": 43933272, "end": 43937244, "strand": "+", "slug": "artn" }, { "symbol": "IPO13", "ensemblId": "ENSG00000117408", "biotype": "protein_coding", "start": 43946672, "end": 43968024, "strand": "+", "slug": "ipo13" }, { "symbol": "DPH2", "ensemblId": "ENSG00000132768", "biotype": "protein_coding", "start": 43969975, "end": 43973373, "strand": "+", "slug": "dph2" }, { "symbol": "ATP6V0B", "ensemblId": "ENSG00000117410", "biotype": "protein_coding", "start": 43974487, "end": 43978299, "strand": "+", "slug": "atp6v0b" }, { "symbol": "B4GALT2", "ensemblId": "ENSG00000117411", "biotype": "protein_coding", "start": 43978943, "end": 43991173, "strand": "+", "slug": "b4galt2" }, { "symbol": "SLC6A9", "ensemblId": "ENSG00000196517", "biotype": "protein_coding", "start": 43989353, "end": 44031767, "strand": "-", "slug": "slc6a9" }, { "symbol": "CCDC24", "ensemblId": "ENSG00000159214", "biotype": "protein_coding", "start": 43991352, "end": 43996529, "strand": "+", "slug": "ccdc24" }, { "symbol": "KLF17", "ensemblId": "ENSG00000171872", "biotype": "protein_coding", "start": 44118821, "end": 44135387, "strand": "+", "slug": "klf17" }, { "symbol": "KLF18", "ensemblId": "ENSG00000283039", "biotype": "protein_coding", "start": 44137821, "end": 44141631, "strand": "-", "slug": "klf18" }, { "symbol": "DMAP1", "ensemblId": "ENSG00000178028", "biotype": "protein_coding", "start": 44213427, "end": 44230038, "strand": "+", "slug": "dmap1" }, { "symbol": "ERI3", "ensemblId": "ENSG00000117419", "biotype": "protein_coding", "start": 44221070, "end": 44355267, "strand": "-", "slug": "eri3" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Kongenitalinės glikozilinimo sutrikimai", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Kongenitalinės glikozilinimo sutrikimai (CDG)", "genes": 98, "inheritance": null, "description": "Didelė paveldimų ligų grupė, kai cukraus grandinės (glikanai) netinkamai susidaro arba netinkamai prisijungia prie baltymų ir lipidų, dažnai pažeidžiančios smegenis, kepenis, kraujo krešėjimą, augimą ir daugelį kitų organų sistemų. Dauguma yra autosominiu recesyviniu būdu paveldimi, tačiau kai kurios yra X chromosomos susietos arba autosominiu dominantiniu būdu paveldimos.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/disorder-of-glycosylation" }, { "slug": "epilepsy-report", "name": "Epilepsija (pilnas tyrimas)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsija", "genes": 171, "inheritance": null, "description": "Smegenų sutrikimas, pasireiškiantis epizodais, kai neuronai nenormaliai intensyviai išsikrauna, dėl ko atsiranda trumpalaikiai jutimo ar judesio neurologinio funkcijos sutrikimo arba psichikos funkcijos sutrikimo epizodai. Šie epizodai gali būti susiję arba nesusiję su sąmonės netekimu ar traukuliais.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Intelektinė negalia", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intelektinė negalia", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "epileptic-spasm", "name": "Epileptic spasm", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epileptic-spasm" }, { "slug": "focal-clonic-seizure", "name": "Focal clonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-clonic-seizure" }, { "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": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irritability" }, { "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": "occasional", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "primitive-reflex", "name": "Primitive reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primitive-reflex" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "atonic-seizure", "name": "Sudden loss of muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atonic-seizure" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tonic-seizure" } ], "related": [ { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 3, "url": "https://dantelabs.com/lt/genes/atp6ap2" }, { "slug": "nus1", "symbol": "NUS1", "name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "shared": 3, "url": "https://dantelabs.com/lt/genes/nus1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 2, "url": "https://dantelabs.com/lt/genes/alg13" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 2, "url": "https://dantelabs.com/lt/genes/arhgef9" }, { "slug": "cad", "symbol": "CAD", "name": "carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase", "shared": 2, "url": "https://dantelabs.com/lt/genes/cad" }, { "slug": "fgf13", "symbol": "FGF13", "name": "fibroblast growth factor 13", "shared": 2, "url": "https://dantelabs.com/lt/genes/fgf13" }, { "slug": "grin1", "symbol": "GRIN1", "name": "glutamate ionotropic receptor NMDA type subunit 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/grin1" }, { "slug": "grin2b", "symbol": "GRIN2B", "name": "glutamate ionotropic receptor NMDA type subunit 2B", "shared": 2, "url": "https://dantelabs.com/lt/genes/grin2b" }, { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "shared": 2, "url": "https://dantelabs.com/lt/genes/kctd7" }, { "slug": "man1b1", "symbol": "MAN1B1", "name": "mannosidase alpha class 1B member 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/man1b1" }, { "slug": "mecp2", "symbol": "MECP2", "name": "methyl-CpG binding protein 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/mecp2" }, { "slug": "nacc1", "symbol": "NACC1", "name": "nucleus accumbens associated 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/nacc1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }