{
  "url": "https://dantelabs.com/es/genes/tpmt",
  "gene": {
    "slug": "tpmt",
    "symbol": "TPMT",
    "name": "thiopurine S-methyltransferase",
    "hgnc": "HGNC:12014",
    "summary": null,
    "location": "6p22.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000137364",
    "entrezId": 7172,
    "omim": [
      "187680"
    ],
    "uniprot": [
      "P51580"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 18128311,
      "end": 18155077,
      "strand": "-",
      "ensemblTranscript": "ENST00000309983.5",
      "refseqTranscript": "NM_000367.5",
      "ensemblProtein": "ENSP00000312304.4",
      "refseqProtein": "NP_000358.1",
      "exons": [
        {
          "start": 18128311,
          "end": 18130780
        },
        {
          "start": 18132133,
          "end": 18132177
        },
        {
          "start": 18133804,
          "end": 18133889
        },
        {
          "start": 18138963,
          "end": 18139037
        },
        {
          "start": 18139665,
          "end": 18139717
        },
        {
          "start": 18143596,
          "end": 18143728
        },
        {
          "start": 18147823,
          "end": 18147915
        },
        {
          "start": 18148988,
          "end": 18149171
        },
        {
          "start": 18155033,
          "end": 18155077
        }
      ],
      "cds": {
        "start": 18130668,
        "end": 18149127
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 18128542,
      "end": 18155305,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 17641694,
      "end": 18641693,
      "genes": [
        {
          "symbol": "NUP153",
          "ensemblId": "ENSG00000124789",
          "biotype": "protein_coding",
          "start": 17614696,
          "end": 17706942,
          "strand": "-",
          "slug": "nup153"
        },
        {
          "symbol": "KIF13A",
          "ensemblId": "ENSG00000137177",
          "biotype": "protein_coding",
          "start": 17758198,
          "end": 17988274,
          "strand": "-",
          "slug": "kif13a"
        },
        {
          "symbol": "NHLRC1",
          "ensemblId": "ENSG00000187566",
          "biotype": "protein_coding",
          "start": 18120440,
          "end": 18122677,
          "strand": "-",
          "slug": "nhlrc1"
        },
        {
          "symbol": "KDM1B",
          "ensemblId": "ENSG00000165097",
          "biotype": "protein_coding",
          "start": 18155293,
          "end": 18224495,
          "strand": "+",
          "slug": "kdm1b"
        },
        {
          "symbol": "DEK",
          "ensemblId": "ENSG00000124795",
          "biotype": "protein_coding",
          "start": 18223860,
          "end": 18265997,
          "strand": "-",
          "slug": "dek"
        },
        {
          "symbol": "RNF144B",
          "ensemblId": "ENSG00000137393",
          "biotype": "protein_coding",
          "start": 18307066,
          "end": 18468874,
          "strand": "+",
          "slug": "rnf144b"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [
      {
        "slug": "pharmacogenomics",
        "title": "Metilación de tiopurinas",
        "summary": "El gen TPMT metila los fármacos tiopurínicos para transformarlos en metabolitos inactivos. Una baja actividad desvía el fármaco hacia la médula ósea, donde puede provocar una mielosupresión grave y, en ocasiones, potencialmente mortal.",
        "actionable": [
          "Relevante antes de iniciar tratamiento con azathioprine, mercaptopurine o thioguanine para la EII, enfermedades autoinmunes, trasplantes o leucemia.",
          "Debe interpretarse junto con NUDT15: ambos genes condicionan de forma independiente la tolerancia a las tiopurinas."
        ],
        "caveat": "Analiza los alelos *2, *3B y *3C, responsables en conjunto de la mayor parte de las deficiencias de TPMT. La presencia simultánea de *3B y *3C se asume como *3A en cis (según el criterio de CPIC para datos no determinados por fase); los alelos más infrecuentes no se evalúan y la determinación de la actividad enzimática sigue siendo la referencia clínica.",
        "alleles": [
          {
            "name": "*2",
            "function": "No function",
            "reference": false
          },
          {
            "name": "*3B",
            "function": "No function",
            "reference": false
          },
          {
            "name": "*1",
            "function": "Normal function",
            "reference": true
          },
          {
            "name": "*3C",
            "function": "No function",
            "reference": false
          },
          {
            "name": "*3A",
            "function": "No function",
            "reference": false
          }
        ],
        "phenotypes": [
          "Possible Intermediate Metabolizer",
          "Intermediate Metabolizer",
          "Indeterminate",
          "Normal Metabolizer",
          "Poor Metabolizer"
        ],
        "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": "1A",
            "pgxTesting": "Testing Recommended",
            "guideline": {
              "name": "TPMT, NUDT15 and Thiopurines",
              "url": "https://www.clinpgx.org/guideline/PA166251442"
            }
          }
        ],
        "name": "Farmacogenómica",
        "url": "https://dantelabs.com/es/whole-genome-sequencing/pharmacogenomics"
      }
    ],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}