{
  "url": "https://dantelabs.com/el/genes/pet117",
  "gene": {
    "slug": "pet117",
    "symbol": "PET117",
    "name": "PET117 cytochrome c oxidase chaperone",
    "hgnc": "HGNC:40045",
    "summary": null,
    "location": "20p11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "CSRP2BP"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000232838",
    "entrezId": 100303755,
    "omim": [
      "614771"
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    "uniprot": [
      "Q6UWS5"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 18137863,
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      "strand": "+",
      "ensemblTranscript": "ENST00000432901.4",
      "refseqTranscript": "NM_001164811.2",
      "ensemblProtein": "ENSP00000397881.2",
      "refseqProtein": "NP_001158283.1",
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        {
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        }
      ],
      "cds": {
        "start": 18137956,
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    },
    "grch37": {
      "build": "GRCh37",
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      "chrom": "20",
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      "end": 18123813,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "RRBP1",
          "ensemblId": "ENSG00000125844",
          "biotype": "protein_coding",
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          "end": 17682295,
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        },
        {
          "symbol": "BANF2",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "SNX5",
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        },
        {
          "symbol": "OVOL2",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ovol2"
        },
        {
          "symbol": "MGME1",
          "ensemblId": "ENSG00000125871",
          "biotype": "protein_coding",
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          "slug": "mgme1"
        },
        {
          "symbol": "KAT14",
          "ensemblId": "ENSG00000149474",
          "biotype": "protein_coding",
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          "end": 18188844,
          "strand": "+",
          "slug": "kat14"
        },
        {
          "symbol": "ZNF133",
          "ensemblId": "ENSG00000125846",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "znf133"
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        {
          "symbol": "DZANK1",
          "ensemblId": "ENSG00000089091",
          "biotype": "protein_coding",
          "start": 18383361,
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          "strand": "-",
          "slug": "dzank1"
        },
        {
          "symbol": "POLR3F",
          "ensemblId": "ENSG00000132664",
          "biotype": "protein_coding",
          "start": 18466878,
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          "strand": "+",
          "slug": "polr3f"
        },
        {
          "symbol": "RBBP9",
          "ensemblId": "ENSG00000089050",
          "biotype": "protein_coding",
          "start": 18486540,
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          "strand": "-",
          "slug": "rbbp9"
        },
        {
          "symbol": "SEC23B",
          "ensemblId": "ENSG00000101310",
          "biotype": "protein_coding",
          "start": 18507520,
          "end": 18561422,
          "strand": "+",
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        },
        {
          "symbol": "SMIM26",
          "ensemblId": "ENSG00000232388",
          "biotype": "protein_coding",
          "start": 18567347,
          "end": 18570995,
          "strand": "+",
          "slug": "smim26"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284776",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "DTD1",
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        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
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          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "lacticaciduria",
        "name": "High urine lactic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/lacticaciduria"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-csf-alanine-concentration",
        "name": "Increased CSF alanine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-alanine-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "increased-mitochondrial-number",
        "name": "Increased mitochondrial number",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-mitochondrial-number"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bradykinesia"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}