{ "url": "https://dantelabs.com/sv/genes/fcsk", "gene": { "slug": "fcsk", "symbol": "FCSK", "name": "fucose kinase", "hgnc": "HGNC:29500", "summary": null, "location": "16q22.1", "locusType": "gene with protein product", "aliases": [ "FLJ39408" ], "previousSymbols": [ "FUK" ], "ensemblId": "ENSG00000157353", "entrezId": 197258, "omim": [ "608675" ], "uniprot": [ "Q8N0W3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 70454595, "end": 70480274, "strand": "+", "ensemblTranscript": "ENST00000288078.11", "refseqTranscript": "NM_145059.3", "ensemblProtein": "ENSP00000288078.6", "refseqProtein": "NP_659496.2", "exons": [ { "start": 70454595, "end": 70454630 }, { "start": 70463169, "end": 70463272 }, { "start": 70463623, "end": 70463774 }, { "start": 70465126, "end": 70465176 }, { "start": 70466132, "end": 70466257 }, { "start": 70466882, "end": 70466954 }, { "start": 70467374, "end": 70467471 }, { "start": 70467886, "end": 70467966 }, { "start": 70468849, "end": 70468968 }, { "start": 70469152, "end": 70469323 }, { "start": 70470314, "end": 70470426 }, { "start": 70470971, "end": 70471072 }, { "start": 70471182, "end": 70471352 }, { "start": 70472541, "end": 70472605 }, { "start": 70472983, "end": 70473353 }, { "start": 70474129, "end": 70474339 }, { "start": 70474528, "end": 70474694 }, { "start": 70474790, "end": 70475011 }, { "start": 70475350, "end": 70475493 }, { "start": 70475648, "end": 70475767 }, { "start": 70478272, "end": 70478459 }, { "start": 70478551, "end": 70478650 }, { "start": 70479180, "end": 70479403 }, { "start": 70479579, "end": 70480274 } ], "cds": { "start": 70463191, "end": 70479680 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 70488324, "end": 70514177, "strand": "+" }, "neighbourhood": { "release": "116", "start": 69967435, "end": 70967434, "genes": [ { "symbol": "PDPR", "ensemblId": "ENSG00000090857", "biotype": "protein_coding", "start": 70114225, "end": 70162537, "strand": "+", "slug": "pdpr" }, { "symbol": "CLEC18C", "ensemblId": "ENSG00000157335", "biotype": "protein_coding", "start": 70173322, "end": 70187361, "strand": "+", "slug": "clec18c" }, { "symbol": "EXOSC6", "ensemblId": "ENSG00000223496", "biotype": "protein_coding", "start": 70246778, "end": 70251940, "strand": "-", "slug": "exosc6" }, { "symbol": "AARS1", "ensemblId": "ENSG00000090861", "biotype": "protein_coding", "start": 70251983, "end": 70289707, "strand": "-", "slug": "aars1" }, { "symbol": "DDX19B", "ensemblId": "ENSG00000157349", "biotype": "protein_coding", "start": 70289663, "end": 70335992, "strand": "+", "slug": "ddx19b" }, { "symbol": "", "ensemblId": "ENSG00000260537", "biotype": "protein_coding", "start": 70299194, "end": 70372582, "strand": "+" }, { "symbol": "DDX19A", "ensemblId": "ENSG00000168872", "biotype": "protein_coding", "start": 70346861, "end": 70379987, "strand": "+", "slug": "ddx19a" }, { "symbol": "ST3GAL2", "ensemblId": "ENSG00000157350", "biotype": "protein_coding", "start": 70375977, "end": 70439263, "strand": "-", "slug": "st3gal2" }, { "symbol": "COG4", "ensemblId": "ENSG00000103051", "biotype": "protein_coding", "start": 70480567, "end": 70523582, "strand": "-", "slug": "cog4" }, { "symbol": "SF3B3", "ensemblId": "ENSG00000189091", "biotype": "protein_coding", "start": 70523782, "end": 70577670, "strand": "+", "slug": "sf3b3" }, { "symbol": "IL34", "ensemblId": "ENSG00000157368", "biotype": "protein_coding", "start": 70579868, "end": 70661556, "strand": "+", "slug": "il34" }, { "symbol": "MTSS2", "ensemblId": "ENSG00000132613", "biotype": "protein_coding", "start": 70661204, "end": 70686086, "strand": "-", "slug": "mtss2" }, { "symbol": "VAC14", "ensemblId": "ENSG00000103043", "biotype": "protein_coding", "start": 70687436, "end": 70801178, "strand": "-", "slug": "vac14" }, { "symbol": "HYDIN", "ensemblId": "ENSG00000157423", "biotype": "protein_coding", "start": 70802084, "end": 71230735, "strand": "-", "slug": "hydin" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Medfødda glykosyleringsrubbningar", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Medfödda glykosyleringsrubbningar (CDG)", "genes": 98, "inheritance": null, "description": "En stor grupp ärftliga tillstånd där sockerkedjor (glykaner) inte byggs eller fästs korrekt på proteiner och lipider, ofta med påverkan på hjärnan, levern, blodkoagulationen, tillväxten och många andra organsystem. De flesta är autosomalt recessiva, men vissa är X-bundna eller autosomalt dominanta.", "management": null, "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/disorder-of-glycosylation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "appendicular-spasticity", "name": "Appendicular spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/appendicular-spasticity" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "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": "elevated-gamma-glutamyltransferase-level", "name": "Elevated gamma-glutamyltransferase level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "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": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "periventricular-leukomalacia", "name": "Periventricular leukomalacia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periventricular-leukomalacia" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/sv/genes/a4galt" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg1" }, { "slug": "alg11", "symbol": "ALG11", "name": "ALG11 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg11" }, { "slug": "alg12", "symbol": "ALG12", "name": "ALG12 alpha-1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg12" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg2" }, { "slug": "alg3", "symbol": "ALG3", "name": "ALG3 alpha-1,3- mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg3" }, { "slug": "alg6", "symbol": "ALG6", "name": "ALG6 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg6" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/sv/genes/alg9" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp6ap1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }