{
  "url": "https://dantelabs.com/no/genes/pofut1",
  "gene": {
    "slug": "pofut1",
    "symbol": "POFUT1",
    "name": "protein O-fucosyltransferase 1",
    "hgnc": "HGNC:14988",
    "summary": null,
    "location": "20q11.21",
    "locusType": "gene with protein product",
    "aliases": [
      "O-FUT",
      "O-Fuc-T",
      "KIAA0180",
      "FUT12"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101346",
    "entrezId": 23509,
    "omim": [
      "607491"
    ],
    "uniprot": [
      "Q9H488"
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      "release": "v1.5",
      "chrom": "20",
      "start": 32207880,
      "end": 32238658,
      "strand": "+",
      "ensemblTranscript": "ENST00000375749.8",
      "refseqTranscript": "NM_015352.2",
      "ensemblProtein": "ENSP00000364902.3",
      "refseqProtein": "NP_056167.1",
      "exons": [
        {
          "start": 32207880,
          "end": 32208065
        },
        {
          "start": 32210071,
          "end": 32210192
        },
        {
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          "end": 32215451
        },
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        },
        {
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          "end": 32231061
        },
        {
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          "end": 32238658
        }
      ],
      "cds": {
        "start": 32207942,
        "end": 32234661
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 30795683,
      "end": 30826470,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31723269,
      "end": 32723268,
      "genes": [
        {
          "symbol": "BCL2L1",
          "ensemblId": "ENSG00000171552",
          "biotype": "protein_coding",
          "start": 31664452,
          "end": 31723989,
          "strand": "-",
          "slug": "bcl2l1"
        },
        {
          "symbol": "TPX2",
          "ensemblId": "ENSG00000088325",
          "biotype": "protein_coding",
          "start": 31739248,
          "end": 31801805,
          "strand": "+",
          "slug": "tpx2"
        },
        {
          "symbol": "MYLK2",
          "ensemblId": "ENSG00000101306",
          "biotype": "protein_coding",
          "start": 31819287,
          "end": 31834689,
          "strand": "+",
          "slug": "mylk2"
        },
        {
          "symbol": "FOXS1",
          "ensemblId": "ENSG00000179772",
          "biotype": "protein_coding",
          "start": 31844303,
          "end": 31845604,
          "strand": "-",
          "slug": "foxs1"
        },
        {
          "symbol": "DUSP15",
          "ensemblId": "ENSG00000149599",
          "biotype": "protein_coding",
          "start": 31847637,
          "end": 31870699,
          "strand": "-",
          "slug": "dusp15"
        },
        {
          "symbol": "TTLL9",
          "ensemblId": "ENSG00000131044",
          "biotype": "protein_coding",
          "start": 31870634,
          "end": 31945000,
          "strand": "+",
          "slug": "ttll9"
        },
        {
          "symbol": "PDRG1",
          "ensemblId": "ENSG00000088356",
          "biotype": "protein_coding",
          "start": 31944337,
          "end": 31952079,
          "strand": "-",
          "slug": "pdrg1"
        },
        {
          "symbol": "XKR7",
          "ensemblId": "ENSG00000260903",
          "biotype": "protein_coding",
          "start": 31968151,
          "end": 32003387,
          "strand": "+",
          "slug": "xkr7"
        },
        {
          "symbol": "CCM2L",
          "ensemblId": "ENSG00000101331",
          "biotype": "protein_coding",
          "start": 32010392,
          "end": 32032185,
          "strand": "+",
          "slug": "ccm2l"
        },
        {
          "symbol": "HCK",
          "ensemblId": "ENSG00000101336",
          "biotype": "protein_coding",
          "start": 32052197,
          "end": 32101857,
          "strand": "+",
          "slug": "hck"
        },
        {
          "symbol": "TM9SF4",
          "ensemblId": "ENSG00000101337",
          "biotype": "protein_coding",
          "start": 32109570,
          "end": 32174005,
          "strand": "+",
          "slug": "tm9sf4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000293164",
          "biotype": "protein_coding",
          "start": 32186477,
          "end": 32190360,
          "strand": "-"
        },
        {
          "symbol": "PLAGL2",
          "ensemblId": "ENSG00000126003",
          "biotype": "protein_coding",
          "start": 32192504,
          "end": 32207759,
          "strand": "-",
          "slug": "plagl2"
        },
        {
          "symbol": "KIF3B",
          "ensemblId": "ENSG00000101350",
          "biotype": "protein_coding",
          "start": 32277627,
          "end": 32335011,
          "strand": "+",
          "slug": "kif3b"
        },
        {
          "symbol": "ASXL1",
          "ensemblId": "ENSG00000171456",
          "biotype": "protein_coding",
          "start": 32358266,
          "end": 32439319,
          "strand": "+",
          "slug": "asxl1"
        },
        {
          "symbol": "NOL4L",
          "ensemblId": "ENSG00000197183",
          "biotype": "protein_coding",
          "start": 32443059,
          "end": 32585352,
          "strand": "-",
          "slug": "nol4l"
        },
        {
          "symbol": "C20orf203",
          "ensemblId": "ENSG00000198547",
          "biotype": "protein_coding",
          "start": 32631625,
          "end": 32673941,
          "strand": "-",
          "slug": "c20orf203"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285382",
          "biotype": "protein_coding",
          "start": 32632183,
          "end": 32743567,
          "strand": "-"
        },
        {
          "symbol": "COMMD7",
          "ensemblId": "ENSG00000149600",
          "biotype": "protein_coding",
          "start": 32702648,
          "end": 32743977,
          "strand": "-",
          "slug": "commd7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Medfødte glykosyleringsforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Medfødte glykosyleringsforstyrrelser (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "En stor gruppe arvelige tilstander der sukkerkjeder (glykaner) ikke blir riktig bygget opp eller festet til proteiner og lipider, og som ofte rammer hjernen, leveren, blodkoagulasjonen, veksten og mange andre organsystemer. De fleste er autosomalt recessive, men noen er X-bundne eller autosomalt dominante.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "slug": "abnormality-of-the-hand",
        "name": "Abnormality of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hand"
      },
      {
        "slug": "abnormality-of-the-neck",
        "name": "Abnormality of the neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-neck"
      },
      {
        "slug": "acne-inversa",
        "name": "Acne inversa",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acne-inversa"
      },
      {
        "slug": "anal-margin-squamous-cell-carcinoma",
        "name": "Anal margin squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/anal-margin-squamous-cell-carcinoma"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "digital-pitting-scar",
        "name": "Digital pitting scar",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/digital-pitting-scar"
      },
      {
        "slug": "epidermoid-cyst",
        "name": "Epidermoid cyst",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/epidermoid-cyst"
      },
      {
        "slug": "erythematous-papule",
        "name": "Erythematous papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erythematous-papule"
      },
      {
        "slug": "follicular-hyperkeratosis",
        "name": "Follicular hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/follicular-hyperkeratosis"
      },
      {
        "slug": "inguinal-freckling",
        "name": "Freckles in groin region",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-freckling"
      },
      {
        "slug": "generalized-abnormality-of-skin",
        "name": "Generalized abnormality of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hyperkeratotic-papule",
        "name": "Hyperkeratotic papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperkeratotic-papule"
      },
      {
        "slug": "hyperpigmented-papule",
        "name": "Hyperpigmented papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperpigmented-papule"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "hypomelanotic-macule",
        "name": "Hypomelanotic macule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypomelanotic-macule"
      },
      {
        "slug": "hypopigmented-macule",
        "name": "Hypopigmented macule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypopigmented-macule"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "keratoacanthoma",
        "name": "Keratoacanthoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/keratoacanthoma"
      },
      {
        "slug": "mixed-hypo-and-hyperpigmentation-of-the-skin",
        "name": "Mixed hypo- and hyperpigmentation of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mixed-hypo-and-hyperpigmentation-of-the-skin"
      },
      {
        "slug": "palmar-pits",
        "name": "Palmar pits",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/palmar-pits"
      },
      {
        "slug": "penile-freckling",
        "name": "Penile freckling",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/penile-freckling"
      },
      {
        "slug": "progressive-reticulate-hyperpigmentation",
        "name": "Progressive reticulate hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-reticulate-hyperpigmentation"
      },
      {
        "slug": "reticular-hyperpigmentation",
        "name": "Reticular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/reticular-hyperpigmentation"
      },
      {
        "slug": "scrotal-hyperpigmentation",
        "name": "Scrotal hyperpigmentation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scrotal-hyperpigmentation"
      },
      {
        "slug": "skin-vesicle",
        "name": "Skin vesicle",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/skin-vesicle"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}