{
  "url": "https://dantelabs.com/lt/genes/mrps14",
  "gene": {
    "slug": "mrps14",
    "symbol": "MRPS14",
    "name": "mitochondrial ribosomal protein S14",
    "hgnc": "HGNC:14049",
    "summary": null,
    "location": "1q25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "HSMRPS14",
      "uS14m"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000120333",
    "entrezId": 63931,
    "omim": [
      "611978"
    ],
    "uniprot": [
      "O60783"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 175012958,
      "end": 175023425,
      "strand": "-",
      "ensemblTranscript": "ENST00000476371.1",
      "refseqTranscript": "NM_022100.3",
      "ensemblProtein": "ENSP00000420714.1",
      "refseqProtein": "NP_071383.1",
      "exons": [
        {
          "start": 175012958,
          "end": 175014851
        },
        {
          "start": 175018418,
          "end": 175018576
        },
        {
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          "end": 175023425
        }
      ],
      "cds": {
        "start": 175014669,
        "end": 175023408
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 174979925,
      "end": 174992561,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 174518192,
      "end": 175518191,
      "genes": [
        {
          "symbol": "RABGAP1L",
          "ensemblId": "ENSG00000152061",
          "biotype": "protein_coding",
          "start": 174159339,
          "end": 174995308,
          "strand": "+",
          "slug": "rabgap1l"
        },
        {
          "symbol": "CACYBP",
          "ensemblId": "ENSG00000116161",
          "biotype": "protein_coding",
          "start": 174999163,
          "end": 175022285,
          "strand": "+",
          "slug": "cacybp"
        },
        {
          "symbol": "TNN",
          "ensemblId": "ENSG00000120332",
          "biotype": "protein_coding",
          "start": 175067509,
          "end": 175148075,
          "strand": "+",
          "slug": "tnn"
        },
        {
          "symbol": "KIAA0040",
          "ensemblId": "ENSG00000235750",
          "biotype": "protein_coding",
          "start": 175156986,
          "end": 175193265,
          "strand": "-",
          "slug": "kiaa0040"
        },
        {
          "symbol": "TNR",
          "ensemblId": "ENSG00000116147",
          "biotype": "protein_coding",
          "start": 175315194,
          "end": 175743704,
          "strand": "-",
          "slug": "tnr"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-mitochondrial-morphology",
        "name": "Abnormal mitochondrial morphology",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-mitochondrial-morphology"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-atp-synthase-complex",
        "name": "Decreased activity of mitochondrial ATP synthase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-atp-synthase-complex"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "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": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wolff-parkinson-white-syndrome",
        "name": "Wolff-Parkinson-White syndrome",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wolff-parkinson-white-syndrome"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}