{
  "url": "https://dantelabs.com/el/genes/ppm1k",
  "gene": {
    "slug": "ppm1k",
    "symbol": "PPM1K",
    "name": "protein phosphatase, Mg2+/Mn2+ dependent 1K",
    "hgnc": "HGNC:25415",
    "summary": null,
    "location": "4q22.1",
    "locusType": "gene with protein product",
    "aliases": [
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      "PP2Ckappa",
      "hPTMP",
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      "BDP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000163644",
    "entrezId": 152926,
    "omim": [
      "611065"
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    "uniprot": [
      "Q8N3J5"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
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      "strand": "-",
      "ensemblTranscript": "ENST00000608933.6",
      "refseqTranscript": "NM_152542.5",
      "ensemblProtein": "ENSP00000477341.1",
      "refseqProtein": "NP_689755.3",
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      "cds": {
        "start": 88262595,
        "end": 88278583
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    },
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    },
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        {
          "symbol": "IBSP",
          "ensemblId": "ENSG00000029559",
          "biotype": "protein_coding",
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          "end": 87813329,
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        {
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        {
          "symbol": "SPP1",
          "ensemblId": "ENSG00000118785",
          "biotype": "protein_coding",
          "start": 87975667,
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          "strand": "+",
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        {
          "symbol": "PKD2",
          "ensemblId": "ENSG00000118762",
          "biotype": "protein_coding",
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        {
          "symbol": "ABCG2",
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        {
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        {
          "symbol": "PYURF",
          "ensemblId": "ENSG00000145337",
          "biotype": "protein_coding",
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        {
          "symbol": "PIGY",
          "ensemblId": "ENSG00000255072",
          "biotype": "protein_coding",
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        {
          "symbol": "HERC3",
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        {
          "symbol": "NAP1L5",
          "ensemblId": "ENSG00000177432",
          "biotype": "protein_coding",
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        {
          "symbol": "FAM13A",
          "ensemblId": "ENSG00000138640",
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          "slug": "fam13a"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hyperisoleucinemia",
        "name": "High blood isoleucine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperisoleucinemia"
      },
      {
        "slug": "hyperleucinemia",
        "name": "High blood leucine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperleucinemia"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}