{
  "url": "https://dantelabs.com/fr/genes/cox4i1",
  "gene": {
    "slug": "cox4i1",
    "symbol": "COX4I1",
    "name": "cytochrome c oxidase subunit 4I1",
    "hgnc": "HGNC:2265",
    "summary": null,
    "location": "16q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "COX4-1",
      "COXIV",
      "COXIV-1"
    ],
    "previousSymbols": [
      "COX4"
    ],
    "ensemblId": "ENSG00000131143",
    "entrezId": 1327,
    "omim": [
      "123864"
    ],
    "uniprot": [
      "P13073"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 85799695,
      "end": 85807068,
      "strand": "+",
      "ensemblTranscript": "ENST00000253452.8",
      "refseqTranscript": "NM_001861.6",
      "ensemblProtein": "ENSP00000253452.2",
      "refseqProtein": "NP_001852.1",
      "exons": [
        {
          "start": 85799695,
          "end": 85799752
        },
        {
          "start": 85801205,
          "end": 85801278
        },
        {
          "start": 85804937,
          "end": 85805104
        },
        {
          "start": 85805733,
          "end": 85805864
        },
        {
          "start": 85806738,
          "end": 85807068
        }
      ],
      "cds": {
        "start": 85801206,
        "end": 85806874
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 85832239,
      "end": 85840650,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 85303382,
      "end": 86303381,
      "genes": [
        {
          "symbol": "GSE1",
          "ensemblId": "ENSG00000131149",
          "biotype": "protein_coding",
          "start": 85169525,
          "end": 85676204,
          "strand": "+",
          "slug": "gse1"
        },
        {
          "symbol": "GINS2",
          "ensemblId": "ENSG00000131153",
          "biotype": "protein_coding",
          "start": 85673164,
          "end": 85690073,
          "strand": "-",
          "slug": "gins2"
        },
        {
          "symbol": "CLMB",
          "ensemblId": "ENSG00000154102",
          "biotype": "protein_coding",
          "start": 85690084,
          "end": 85751143,
          "strand": "-",
          "slug": "clmb"
        },
        {
          "symbol": "EMC8",
          "ensemblId": "ENSG00000131148",
          "biotype": "protein_coding",
          "start": 85771758,
          "end": 85800193,
          "strand": "-",
          "slug": "emc8"
        },
        {
          "symbol": "IRF8",
          "ensemblId": "ENSG00000140968",
          "biotype": "protein_coding",
          "start": 85899116,
          "end": 85922606,
          "strand": "+",
          "slug": "irf8"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hyperactive-patellar-reflex",
        "name": "Brisk knee jerk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactive-patellar-reflex"
      },
      {
        "slug": "chromosomal-breakage-induced-by-crosslinking-agents",
        "name": "Chromosomal breakage induced by crosslinking agents",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chromosomal-breakage-induced-by-crosslinking-agents"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "elevated-csf-fumarate-concentration",
        "name": "Elevated CSF fumarate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-csf-fumarate-concentration"
      },
      {
        "slug": "epileptic-spasm",
        "name": "Epileptic spasm",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epileptic-spasm"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "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": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "short-3rd-toe",
        "name": "Short 3rd toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-3rd-toe"
      },
      {
        "slug": "short-4th-toe",
        "name": "Short 4th toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-4th-toe"
      },
      {
        "slug": "short-5th-finger",
        "name": "Short 5th finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-5th-finger"
      },
      {
        "slug": "short-5th-toe",
        "name": "Short little toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-5th-toe"
      },
      {
        "slug": "short-2nd-toe",
        "name": "Short second toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-2nd-toe"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}