{
  "url": "https://dantelabs.com/et/genes/nudt15",
  "gene": {
    "slug": "nudt15",
    "symbol": "NUDT15",
    "name": "nudix hydrolase 15",
    "hgnc": "HGNC:23063",
    "summary": null,
    "location": "13q14.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MTH2",
      "FLJ10956"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000136159",
    "entrezId": 55270,
    "omim": [
      "615792"
    ],
    "uniprot": [
      "Q9NV35"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 48037726,
      "end": 48047221,
      "strand": "+",
      "ensemblTranscript": "ENST00000258662.3",
      "refseqTranscript": "NM_018283.4",
      "ensemblProtein": "ENSP00000258662.1",
      "refseqProtein": "NP_060753.1",
      "exons": [
        {
          "start": 48037726,
          "end": 48037904
        },
        {
          "start": 48040920,
          "end": 48041116
        },
        {
          "start": 48045660,
          "end": 48047221
        }
      ],
      "cds": {
        "start": 48037747,
        "end": 48045799
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 48611703,
      "end": 48621358,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47542474,
      "end": 48542473,
      "genes": [
        {
          "symbol": "SUCLA2",
          "ensemblId": "ENSG00000136143",
          "biotype": "protein_coding",
          "start": 47745736,
          "end": 48037968,
          "strand": "-",
          "slug": "sucla2"
        },
        {
          "symbol": "MED4",
          "ensemblId": "ENSG00000136146",
          "biotype": "protein_coding",
          "start": 48001823,
          "end": 48095150,
          "strand": "-",
          "slug": "med4"
        },
        {
          "symbol": "ITM2B",
          "ensemblId": "ENSG00000136156",
          "biotype": "protein_coding",
          "start": 48232612,
          "end": 48270357,
          "strand": "+",
          "slug": "itm2b"
        },
        {
          "symbol": "RB1",
          "ensemblId": "ENSG00000139687",
          "biotype": "protein_coding",
          "start": 48303710,
          "end": 48599436,
          "strand": "+",
          "slug": "rb1"
        },
        {
          "symbol": "LPAR6",
          "ensemblId": "ENSG00000139679",
          "biotype": "protein_coding",
          "start": 48327364,
          "end": 48444704,
          "strand": "-",
          "slug": "lpar6"
        },
        {
          "symbol": "RCBTB2",
          "ensemblId": "ENSG00000136161",
          "biotype": "protein_coding",
          "start": 48488858,
          "end": 48536006,
          "strand": "-",
          "slug": "rcbtb2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [
      {
        "slug": "pharmacogenomics",
        "title": "Tiopuriinitaluvus",
        "summary": "NUDT15 inaktiveerib tiopuriini metaboliite. Vähenenud aktiivsus lubab neil luuüdis koguneda, suurendades raske luuüdi kahjustuse riski.",
        "actionable": [
          "Oluline, kui teid ravitakse asatiopriini, merkaptopuriini või tioguaniiniga põletikulise soolehaiguse, leukeemia või autoimmuunhaiguse korral.",
          "Lugege koos TPMT-ga — mõlemad kujundavad tiopuriini annustamist ning kumbki üksi võib nõuda madalamat annust."
        ],
        "caveat": "NUDT15*3 on kõige levinum vähenenud funktsiooniga alleel (eriti Ida-Aasia ja hispaanlaste populatsioonides); harvemad alleelid ei ole hinnatud.",
        "alleles": [
          {
            "name": "*1",
            "function": "Normal function",
            "reference": true
          },
          {
            "name": "*3",
            "function": "No function",
            "reference": false
          }
        ],
        "phenotypes": [
          "Normal Metabolizer",
          "Intermediate Metabolizer",
          "Possible Intermediate Metabolizer",
          "Poor Metabolizer",
          "Indeterminate"
        ],
        "drugs": [
          {
            "name": "azathioprine",
            "cpicLevel": "A",
            "clinpgxLevel": "1A",
            "pgxTesting": "Testing Recommended",
            "guideline": {
              "name": "TPMT, NUDT15 and Thiopurines",
              "url": "https://www.clinpgx.org/guideline/PA166251442"
            }
          },
          {
            "name": "mercaptopurine",
            "cpicLevel": "A",
            "clinpgxLevel": "1A",
            "pgxTesting": "Testing Recommended",
            "guideline": {
              "name": "TPMT, NUDT15 and Thiopurines",
              "url": "https://www.clinpgx.org/guideline/PA166251442"
            }
          },
          {
            "name": "thioguanine",
            "cpicLevel": "A",
            "clinpgxLevel": "3",
            "pgxTesting": "Testing Recommended",
            "guideline": {
              "name": "TPMT, NUDT15 and Thiopurines",
              "url": "https://www.clinpgx.org/guideline/PA166251442"
            }
          }
        ],
        "name": "Farmakogenomika",
        "url": "https://dantelabs.com/et/whole-genome-sequencing/pharmacogenomics"
      }
    ],
    "traits": [],
    "phenotypes": [],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}