{
  "url": "https://dantelabs.com/pl/genes/cox8a",
  "gene": {
    "slug": "cox8a",
    "symbol": "COX8A",
    "name": "cytochrome c oxidase subunit 8A",
    "hgnc": "HGNC:2294",
    "summary": null,
    "location": "11q13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "COX8-2",
      "COX8L",
      "VIII-L",
      "COX",
      "VIII"
    ],
    "previousSymbols": [
      "COX8"
    ],
    "ensemblId": "ENSG00000176340",
    "entrezId": 1351,
    "omim": [
      "123870"
    ],
    "uniprot": [
      "P10176"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 63974620,
      "end": 63976543,
      "strand": "+",
      "ensemblTranscript": "ENST00000314133.4",
      "refseqTranscript": "NM_004074.3",
      "ensemblProtein": "ENSP00000321260.3",
      "refseqProtein": "NP_004065.1",
      "exons": [
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          "start": 63974620,
          "end": 63974794
        },
        {
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        }
      ],
      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
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      "strand": "+"
    },
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        {
          "symbol": "LGALS12",
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        {
          "symbol": "PLAAT4",
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        {
          "symbol": "PLAAT2",
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          "strand": "-",
          "slug": "plaat2"
        },
        {
          "symbol": "PLAAT3",
          "ensemblId": "ENSG00000176485",
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        {
          "symbol": "ATL3",
          "ensemblId": "ENSG00000184743",
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          "strand": "-",
          "slug": "atl3"
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        {
          "symbol": "RTN3",
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          "biotype": "protein_coding",
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          "end": 63759909,
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        },
        {
          "symbol": "ZFTA",
          "ensemblId": "ENSG00000188070",
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          "strand": "-",
          "slug": "zfta"
        },
        {
          "symbol": "SPINDOC",
          "ensemblId": "ENSG00000168005",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "MARK2",
          "ensemblId": "ENSG00000072518",
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          "end": 63911020,
          "strand": "+",
          "slug": "mark2"
        },
        {
          "symbol": "RCOR2",
          "ensemblId": "ENSG00000167771",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "rcor2"
        },
        {
          "symbol": "NAA40",
          "ensemblId": "ENSG00000110583",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "OTUB1",
          "ensemblId": "ENSG00000167770",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "MACROD1",
          "ensemblId": "ENSG00000133315",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "macrod1"
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        {
          "symbol": "FLRT1",
          "ensemblId": "ENSG00000126500",
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        },
        {
          "symbol": "STIP1",
          "ensemblId": "ENSG00000168439",
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        },
        {
          "symbol": "FERMT3",
          "ensemblId": "ENSG00000149781",
          "biotype": "protein_coding",
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          "slug": "fermt3"
        },
        {
          "symbol": "TRPT1",
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          "strand": "-",
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        {
          "symbol": "NUDT22",
          "ensemblId": "ENSG00000149761",
          "biotype": "protein_coding",
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        {
          "symbol": "DNAJC4",
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          "slug": "dnajc4"
        },
        {
          "symbol": "VEGFB",
          "ensemblId": "ENSG00000173511",
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          "strand": "+",
          "slug": "vegfb"
        },
        {
          "symbol": "FKBP2",
          "ensemblId": "ENSG00000173486",
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          "strand": "+",
          "slug": "fkbp2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286264",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "PPP1R14B",
          "ensemblId": "ENSG00000173457",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ppp1r14b"
        },
        {
          "symbol": "PLCB3",
          "ensemblId": "ENSG00000149782",
          "biotype": "protein_coding",
          "start": 64251498,
          "end": 64269424,
          "strand": "+",
          "slug": "plcb3"
        },
        {
          "symbol": "BAD",
          "ensemblId": "ENSG00000002330",
          "biotype": "protein_coding",
          "start": 64269828,
          "end": 64291946,
          "strand": "-",
          "slug": "bad"
        },
        {
          "symbol": "GPR137",
          "ensemblId": "ENSG00000173264",
          "biotype": "protein_coding",
          "start": 64270062,
          "end": 64290690,
          "strand": "+",
          "slug": "gpr137"
        },
        {
          "symbol": "KCNK4",
          "ensemblId": "ENSG00000182450",
          "biotype": "protein_coding",
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          "end": 64300031,
          "strand": "+",
          "slug": "kcnk4"
        },
        {
          "symbol": "CATSPERZ",
          "ensemblId": "ENSG00000219435",
          "biotype": "protein_coding",
          "start": 64300338,
          "end": 64304770,
          "strand": "+",
          "slug": "catsperz"
        },
        {
          "symbol": "ESRRA",
          "ensemblId": "ENSG00000173153",
          "biotype": "protein_coding",
          "start": 64305080,
          "end": 64317859,
          "strand": "+",
          "slug": "esrra"
        },
        {
          "symbol": "TRMT112",
          "ensemblId": "ENSG00000173113",
          "biotype": "protein_coding",
          "start": 64316460,
          "end": 64318086,
          "strand": "-",
          "slug": "trmt112"
        },
        {
          "symbol": "PRDX5",
          "ensemblId": "ENSG00000126432",
          "biotype": "protein_coding",
          "start": 64317977,
          "end": 64321827,
          "strand": "+",
          "slug": "prdx5"
        },
        {
          "symbol": "CCDC88B",
          "ensemblId": "ENSG00000168071",
          "biotype": "protein_coding",
          "start": 64340197,
          "end": 64357534,
          "strand": "+",
          "slug": "ccdc88b"
        },
        {
          "symbol": "RPS6KA4",
          "ensemblId": "ENSG00000162302",
          "biotype": "protein_coding",
          "start": 64359134,
          "end": 64372215,
          "strand": "+",
          "slug": "rps6ka4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-generalized-onset",
        "name": "Bilateral tonic-clonic seizure with generalized onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-generalized-onset"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "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": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "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": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "nasogastric-tube-feeding-in-infancy",
        "name": "Nasogastric tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nasogastric-tube-feeding-in-infancy"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "atonic-seizure",
        "name": "Sudden loss of muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atonic-seizure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}