{
  "url": "https://dantelabs.com/hu/genes/dgat1",
  "gene": {
    "slug": "dgat1",
    "symbol": "DGAT1",
    "name": "diacylglycerol O-acyltransferase 1",
    "hgnc": "HGNC:2843",
    "summary": null,
    "location": "8q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ARGP1"
    ],
    "previousSymbols": [
      "DGAT"
    ],
    "ensemblId": "ENSG00000185000",
    "entrezId": 8694,
    "omim": [
      "604900"
    ],
    "uniprot": [
      "O75907"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 144314584,
      "end": 144326852,
      "strand": "-",
      "ensemblTranscript": "ENST00000528718.6",
      "refseqTranscript": "NM_012079.6",
      "ensemblProtein": "ENSP00000482264.1",
      "refseqProtein": "NP_036211.2",
      "exons": [
        {
          "start": 144314584,
          "end": 144316709
        },
        {
          "start": 144316853,
          "end": 144316915
        },
        {
          "start": 144317022,
          "end": 144317109
        },
        {
          "start": 144317187,
          "end": 144317252
        },
        {
          "start": 144317333,
          "end": 144317445
        },
        {
          "start": 144317544,
          "end": 144317588
        },
        {
          "start": 144317671,
          "end": 144317712
        },
        {
          "start": 144317784,
          "end": 144317822
        },
        {
          "start": 144317914,
          "end": 144318017
        },
        {
          "start": 144318095,
          "end": 144318169
        },
        {
          "start": 144318261,
          "end": 144318362
        },
        {
          "start": 144318461,
          "end": 144318566
        },
        {
          "start": 144318699,
          "end": 144318751
        },
        {
          "start": 144318835,
          "end": 144318920
        },
        {
          "start": 144319028,
          "end": 144319068
        },
        {
          "start": 144321321,
          "end": 144321408
        },
        {
          "start": 144326437,
          "end": 144326852
        }
      ],
      "cds": {
        "start": 144316554,
        "end": 144326636
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 145539954,
      "end": 145550573,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 143820718,
      "end": 144820717,
      "genes": [
        {
          "symbol": "PUF60",
          "ensemblId": "ENSG00000179950",
          "biotype": "protein_coding",
          "start": 143816344,
          "end": 143830709,
          "strand": "-",
          "slug": "puf60"
        },
        {
          "symbol": "NRBP2",
          "ensemblId": "ENSG00000185189",
          "biotype": "protein_coding",
          "start": 143833583,
          "end": 143841109,
          "strand": "-",
          "slug": "nrbp2"
        },
        {
          "symbol": "EPPK1",
          "ensemblId": "ENSG00000261150",
          "biotype": "protein_coding",
          "start": 143857324,
          "end": 143878468,
          "strand": "-",
          "slug": "eppk1"
        },
        {
          "symbol": "PLEC",
          "ensemblId": "ENSG00000178209",
          "biotype": "protein_coding",
          "start": 143915152,
          "end": 143977039,
          "strand": "-",
          "slug": "plec"
        },
        {
          "symbol": "PARP10",
          "ensemblId": "ENSG00000178685",
          "biotype": "protein_coding",
          "start": 143977151,
          "end": 144019930,
          "strand": "-",
          "slug": "parp10"
        },
        {
          "symbol": "GRINA",
          "ensemblId": "ENSG00000178719",
          "biotype": "protein_coding",
          "start": 143990048,
          "end": 143994935,
          "strand": "+",
          "slug": "grina"
        },
        {
          "symbol": "SPATC1",
          "ensemblId": "ENSG00000186583",
          "biotype": "protein_coding",
          "start": 144012275,
          "end": 144047114,
          "strand": "+",
          "slug": "spatc1"
        },
        {
          "symbol": "OPLAH",
          "ensemblId": "ENSG00000178814",
          "biotype": "protein_coding",
          "start": 144051265,
          "end": 144064091,
          "strand": "-",
          "slug": "oplah"
        },
        {
          "symbol": "EXOSC4",
          "ensemblId": "ENSG00000178896",
          "biotype": "protein_coding",
          "start": 144078560,
          "end": 144081408,
          "strand": "+",
          "slug": "exosc4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290230",
          "biotype": "protein_coding",
          "start": 144078642,
          "end": 144084330,
          "strand": "+"
        },
        {
          "symbol": "GPAA1",
          "ensemblId": "ENSG00000197858",
          "biotype": "protein_coding",
          "start": 144082337,
          "end": 144093149,
          "strand": "+",
          "slug": "gpaa1"
        },
        {
          "symbol": "CYC1",
          "ensemblId": "ENSG00000179091",
          "biotype": "protein_coding",
          "start": 144095039,
          "end": 144097525,
          "strand": "+",
          "slug": "cyc1"
        },
        {
          "symbol": "SHARPIN",
          "ensemblId": "ENSG00000179526",
          "biotype": "protein_coding",
          "start": 144097513,
          "end": 144108124,
          "strand": "-",
          "slug": "sharpin"
        },
        {
          "symbol": "MAF1",
          "ensemblId": "ENSG00000179632",
          "biotype": "protein_coding",
          "start": 144103112,
          "end": 144107618,
          "strand": "+",
          "slug": "maf1"
        },
        {
          "symbol": "WDR97",
          "ensemblId": "ENSG00000179698",
          "biotype": "protein_coding",
          "start": 144107726,
          "end": 144118328,
          "strand": "+",
          "slug": "wdr97"
        },
        {
          "symbol": "HGH1",
          "ensemblId": "ENSG00000235173",
          "biotype": "protein_coding",
          "start": 144137774,
          "end": 144140851,
          "strand": "+",
          "slug": "hgh1"
        },
        {
          "symbol": "MROH1",
          "ensemblId": "ENSG00000179832",
          "biotype": "protein_coding",
          "start": 144147975,
          "end": 144262470,
          "strand": "+",
          "slug": "mroh1"
        },
        {
          "symbol": "BOP1",
          "ensemblId": "ENSG00000261236",
          "biotype": "protein_coding",
          "start": 144262045,
          "end": 144291453,
          "strand": "-",
          "slug": "bop1"
        },
        {
          "symbol": "SCX",
          "ensemblId": "ENSG00000260428",
          "biotype": "protein_coding",
          "start": 144266446,
          "end": 144268481,
          "strand": "+",
          "slug": "scx"
        },
        {
          "symbol": "HSF1",
          "ensemblId": "ENSG00000185122",
          "biotype": "protein_coding",
          "start": 144291521,
          "end": 144314729,
          "strand": "+",
          "slug": "hsf1"
        },
        {
          "symbol": "SCRT1",
          "ensemblId": "ENSG00000261678",
          "biotype": "protein_coding",
          "start": 144330565,
          "end": 144336503,
          "strand": "-",
          "slug": "scrt1"
        },
        {
          "symbol": "SLC52A2",
          "ensemblId": "ENSG00000185803",
          "biotype": "protein_coding",
          "start": 144333957,
          "end": 144361447,
          "strand": "+",
          "slug": "slc52a2"
        },
        {
          "symbol": "CATSPERQ",
          "ensemblId": "ENSG00000261587",
          "biotype": "protein_coding",
          "start": 144352219,
          "end": 144354954,
          "strand": "-",
          "slug": "catsperq"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000271698",
          "biotype": "protein_coding",
          "start": 144353228,
          "end": 144355609,
          "strand": "-"
        },
        {
          "symbol": "FBXL6",
          "ensemblId": "ENSG00000182325",
          "biotype": "protein_coding",
          "start": 144355427,
          "end": 144359376,
          "strand": "-",
          "slug": "fbxl6"
        },
        {
          "symbol": "ADCK5",
          "ensemblId": "ENSG00000173137",
          "biotype": "protein_coding",
          "start": 144373101,
          "end": 144393243,
          "strand": "+",
          "slug": "adck5"
        },
        {
          "symbol": "CPSF1",
          "ensemblId": "ENSG00000071894",
          "biotype": "protein_coding",
          "start": 144393229,
          "end": 144409864,
          "strand": "-",
          "slug": "cpsf1"
        },
        {
          "symbol": "SLC39A4",
          "ensemblId": "ENSG00000147804",
          "biotype": "protein_coding",
          "start": 144409742,
          "end": 144416894,
          "strand": "-",
          "slug": "slc39a4"
        },
        {
          "symbol": "VPS28",
          "ensemblId": "ENSG00000160948",
          "biotype": "protein_coding",
          "start": 144423597,
          "end": 144429499,
          "strand": "-",
          "slug": "vps28"
        },
        {
          "symbol": "TONSL",
          "ensemblId": "ENSG00000160949",
          "biotype": "protein_coding",
          "start": 144428763,
          "end": 144444488,
          "strand": "-",
          "slug": "tonsl"
        },
        {
          "symbol": "ZFTRAF1",
          "ensemblId": "ENSG00000187954",
          "biotype": "protein_coding",
          "start": 144447345,
          "end": 144462908,
          "strand": "-",
          "slug": "zftraf1"
        },
        {
          "symbol": "TMEM276-ZFTRAF1",
          "ensemblId": "ENSG00000291316",
          "biotype": "protein_coding",
          "start": 144449582,
          "end": 144465430,
          "strand": "-",
          "slug": "tmem276-zftraf1"
        },
        {
          "symbol": "TMEM276",
          "ensemblId": "ENSG00000291317",
          "biotype": "protein_coding",
          "start": 144463817,
          "end": 144466890,
          "strand": "-",
          "slug": "tmem276"
        },
        {
          "symbol": "KIFC2",
          "ensemblId": "ENSG00000167702",
          "biotype": "protein_coding",
          "start": 144465940,
          "end": 144474202,
          "strand": "+",
          "slug": "kifc2"
        },
        {
          "symbol": "FOXH1",
          "ensemblId": "ENSG00000160973",
          "biotype": "protein_coding",
          "start": 144473412,
          "end": 144475873,
          "strand": "-",
          "slug": "foxh1"
        },
        {
          "symbol": "PPP1R16A",
          "ensemblId": "ENSG00000160972",
          "biotype": "protein_coding",
          "start": 144475989,
          "end": 144502126,
          "strand": "+",
          "slug": "ppp1r16a"
        },
        {
          "symbol": "GPT",
          "ensemblId": "ENSG00000167701",
          "biotype": "protein_coding",
          "start": 144502608,
          "end": 144507494,
          "strand": "+",
          "slug": "gpt"
        },
        {
          "symbol": "SLC33A2",
          "ensemblId": "ENSG00000167700",
          "biotype": "protein_coding",
          "start": 144508263,
          "end": 144511317,
          "strand": "+",
          "slug": "slc33a2"
        },
        {
          "symbol": "RECQL4",
          "ensemblId": "ENSG00000160957",
          "biotype": "protein_coding",
          "start": 144511284,
          "end": 144517890,
          "strand": "-",
          "slug": "recql4"
        },
        {
          "symbol": "LRRC14",
          "ensemblId": "ENSG00000160959",
          "biotype": "protein_coding",
          "start": 144517957,
          "end": 144526244,
          "strand": "+",
          "slug": "lrrc14"
        },
        {
          "symbol": "LRRC24",
          "ensemblId": "ENSG00000254402",
          "biotype": "protein_coding",
          "start": 144522385,
          "end": 144527608,
          "strand": "-",
          "slug": "lrrc24"
        },
        {
          "symbol": "C8orf82",
          "ensemblId": "ENSG00000213563",
          "biotype": "protein_coding",
          "start": 144525733,
          "end": 144529132,
          "strand": "-",
          "slug": "c8orf82"
        },
        {
          "symbol": "ARHGAP39",
          "ensemblId": "ENSG00000147799",
          "biotype": "protein_coding",
          "start": 144529179,
          "end": 144685879,
          "strand": "-",
          "slug": "arhgap39"
        },
        {
          "symbol": "ZNF251",
          "ensemblId": "ENSG00000198169",
          "biotype": "protein_coding",
          "start": 144720515,
          "end": 144756417,
          "strand": "-",
          "slug": "znf251"
        },
        {
          "symbol": "ZNF34",
          "ensemblId": "ENSG00000196378",
          "biotype": "protein_coding",
          "start": 144770441,
          "end": 144788684,
          "strand": "-",
          "slug": "znf34"
        },
        {
          "symbol": "RPL8",
          "ensemblId": "ENSG00000161016",
          "biotype": "protein_coding",
          "start": 144789765,
          "end": 144793502,
          "strand": "-",
          "slug": "rpl8"
        },
        {
          "symbol": "ZNF517",
          "ensemblId": "ENSG00000197363",
          "biotype": "protein_coding",
          "start": 144798863,
          "end": 144813034,
          "strand": "+",
          "slug": "znf517"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diarrhoeas-and-enteropathies",
        "name": "Congenital Diarrhoeas & Enteropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0000824",
            "name": "Congenital diarrhoea",
            "genes": 12,
            "inheritance": null,
            "description": "Inherited conditions, including congenital chloride diarrhoea (SLC26A3), microvillus inclusion disease (MYO5B), tufting enteropathy (EPCAM) and congenital sodium diarrhoea (SPINT2, SLC9A3), that cause chronic diarrhoea from early infancy.",
            "management": "A specific diagnosis directs treatment such as electrolyte replacement for chloride diarrhoea, or early planning for parenteral nutrition or intestinal transplant in microvillus inclusion disease and tufting enteropathy.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/congenital-diarrhoeas-and-enteropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-colic",
        "name": "Abdominal colic",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-colic"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/epcam"
      },
      {
        "slug": "gucy2c",
        "symbol": "GUCY2C",
        "name": "guanylate cyclase 2C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gucy2c"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/myo5b"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "name": "neurogenin 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/neurog3"
      },
      {
        "slug": "plvap",
        "symbol": "PLVAP",
        "name": "plasmalemma vesicle associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/plvap"
      },
      {
        "slug": "slc26a3",
        "symbol": "SLC26A3",
        "name": "solute carrier family 26 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc26a3"
      },
      {
        "slug": "slc5a1",
        "symbol": "SLC5A1",
        "name": "solute carrier family 5 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc5a1"
      },
      {
        "slug": "slc9a3",
        "symbol": "SLC9A3",
        "name": "solute carrier family 9 member A3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc9a3"
      },
      {
        "slug": "spint2",
        "symbol": "SPINT2",
        "name": "serine peptidase inhibitor, Kunitz type 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/spint2"
      },
      {
        "slug": "stx3",
        "symbol": "STX3",
        "name": "syntaxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/stx3"
      },
      {
        "slug": "wnt2b",
        "symbol": "WNT2B",
        "name": "Wnt family member 2B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/wnt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}