{
  "url": "https://dantelabs.com/hu/genes/gpd1",
  "gene": {
    "slug": "gpd1",
    "symbol": "GPD1",
    "name": "glycerol-3-phosphate dehydrogenase 1",
    "hgnc": "HGNC:4455",
    "summary": null,
    "location": "12q13.12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167588",
    "entrezId": 2819,
    "omim": [
      "138420"
    ],
    "uniprot": [
      "P21695"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 50104008,
      "end": 50111313,
      "strand": "+",
      "ensemblTranscript": "ENST00000301149.8",
      "refseqTranscript": "NM_005276.4",
      "ensemblProtein": "ENSP00000301149.3",
      "refseqProtein": "NP_005267.2",
      "exons": [
        {
          "start": 50104008,
          "end": 50104091
        },
        {
          "start": 50104574,
          "end": 50104751
        },
        {
          "start": 50105548,
          "end": 50105688
        },
        {
          "start": 50106288,
          "end": 50106426
        },
        {
          "start": 50106805,
          "end": 50106917
        },
        {
          "start": 50107567,
          "end": 50107800
        },
        {
          "start": 50108024,
          "end": 50108130
        },
        {
          "start": 50109423,
          "end": 50111313
        }
      ],
      "cds": {
        "start": 50104051,
        "end": 50109519
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 50497602,
      "end": 50505102,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49607661,
      "end": 50607660,
      "genes": [
        {
          "symbol": "PRPF40B",
          "ensemblId": "ENSG00000110844",
          "biotype": "protein_coding",
          "start": 49568218,
          "end": 49644666,
          "strand": "+",
          "slug": "prpf40b"
        },
        {
          "symbol": "FMNL3",
          "ensemblId": "ENSG00000161791",
          "biotype": "protein_coding",
          "start": 49636499,
          "end": 49708165,
          "strand": "-",
          "slug": "fmnl3"
        },
        {
          "symbol": "TMBIM6",
          "ensemblId": "ENSG00000139644",
          "biotype": "protein_coding",
          "start": 49707725,
          "end": 49764935,
          "strand": "+",
          "slug": "tmbim6"
        },
        {
          "symbol": "NCKAP5L",
          "ensemblId": "ENSG00000167566",
          "biotype": "protein_coding",
          "start": 49790615,
          "end": 49828750,
          "strand": "-",
          "slug": "nckap5l"
        },
        {
          "symbol": "BCDIN3D",
          "ensemblId": "ENSG00000186666",
          "biotype": "protein_coding",
          "start": 49836043,
          "end": 49843133,
          "strand": "-",
          "slug": "bcdin3d"
        },
        {
          "symbol": "FAIM2",
          "ensemblId": "ENSG00000135472",
          "biotype": "protein_coding",
          "start": 49866896,
          "end": 49904217,
          "strand": "-",
          "slug": "faim2"
        },
        {
          "symbol": "AQP2",
          "ensemblId": "ENSG00000167580",
          "biotype": "protein_coding",
          "start": 49950736,
          "end": 49958881,
          "strand": "+",
          "slug": "aqp2"
        },
        {
          "symbol": "AQP5",
          "ensemblId": "ENSG00000161798",
          "biotype": "protein_coding",
          "start": 49961228,
          "end": 49965682,
          "strand": "+",
          "slug": "aqp5"
        },
        {
          "symbol": "AQP6",
          "ensemblId": "ENSG00000086159",
          "biotype": "protein_coding",
          "start": 49967194,
          "end": 49977152,
          "strand": "+",
          "slug": "aqp6"
        },
        {
          "symbol": "RACGAP1",
          "ensemblId": "ENSG00000161800",
          "biotype": "protein_coding",
          "start": 49976923,
          "end": 50033136,
          "strand": "-",
          "slug": "racgap1"
        },
        {
          "symbol": "ASIC1",
          "ensemblId": "ENSG00000110881",
          "biotype": "protein_coding",
          "start": 50057351,
          "end": 50083621,
          "strand": "+",
          "slug": "asic1"
        },
        {
          "symbol": "SMARCD1",
          "ensemblId": "ENSG00000066117",
          "biotype": "protein_coding",
          "start": 50085196,
          "end": 50101870,
          "strand": "+",
          "slug": "smarcd1"
        },
        {
          "symbol": "COX14",
          "ensemblId": "ENSG00000178449",
          "biotype": "protein_coding",
          "start": 50111982,
          "end": 50120463,
          "strand": "+",
          "slug": "cox14"
        },
        {
          "symbol": "CERS5",
          "ensemblId": "ENSG00000139624",
          "biotype": "protein_coding",
          "start": 50129289,
          "end": 50167533,
          "strand": "-",
          "slug": "cers5"
        },
        {
          "symbol": "LIMA1",
          "ensemblId": "ENSG00000050405",
          "biotype": "protein_coding",
          "start": 50175788,
          "end": 50283550,
          "strand": "-",
          "slug": "lima1"
        },
        {
          "symbol": "FAM186A",
          "ensemblId": "ENSG00000185958",
          "biotype": "protein_coding",
          "start": 50326230,
          "end": 50396622,
          "strand": "-",
          "slug": "fam186a"
        },
        {
          "symbol": "LARP4",
          "ensemblId": "ENSG00000161813",
          "biotype": "protein_coding",
          "start": 50392383,
          "end": 50480007,
          "strand": "+",
          "slug": "larp4"
        },
        {
          "symbol": "DIP2B",
          "ensemblId": "ENSG00000066084",
          "biotype": "protein_coding",
          "start": 50504962,
          "end": 50748657,
          "strand": "+",
          "slug": "dip2b"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}