{
  "url": "https://dantelabs.com/et/genes/mrps16",
  "gene": {
    "slug": "mrps16",
    "symbol": "MRPS16",
    "name": "mitochondrial ribosomal protein S16",
    "hgnc": "HGNC:14048",
    "summary": null,
    "location": "10q22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CGI-132",
      "bS16m"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000182180",
    "entrezId": 51021,
    "omim": [
      "609204"
    ],
    "uniprot": [
      "Q9Y3D3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 73248849,
      "end": 73252644,
      "strand": "-",
      "ensemblTranscript": "ENST00000372945.8",
      "refseqTranscript": "NM_016065.4",
      "ensemblProtein": "ENSP00000362036.3",
      "refseqProtein": "NP_057149.1",
      "exons": [
        {
          "start": 73248849,
          "end": 73250991
        },
        {
          "start": 73251763,
          "end": 73252023
        },
        {
          "start": 73252470,
          "end": 73252644
        }
      ],
      "cds": {
        "start": 73250852,
        "end": 73252482
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 75006510,
      "end": 75012451,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 72750747,
      "end": 73750746,
      "genes": [
        {
          "symbol": "MCU",
          "ensemblId": "ENSG00000156026",
          "biotype": "protein_coding",
          "start": 72692088,
          "end": 72887694,
          "strand": "+",
          "slug": "mcu"
        },
        {
          "symbol": "OIT3",
          "ensemblId": "ENSG00000138315",
          "biotype": "protein_coding",
          "start": 72893573,
          "end": 72933036,
          "strand": "+",
          "slug": "oit3"
        },
        {
          "symbol": "PLA2G12B",
          "ensemblId": "ENSG00000138308",
          "biotype": "protein_coding",
          "start": 72913141,
          "end": 72954885,
          "strand": "-",
          "slug": "pla2g12b"
        },
        {
          "symbol": "P4HA1",
          "ensemblId": "ENSG00000122884",
          "biotype": "protein_coding",
          "start": 73005811,
          "end": 73097108,
          "strand": "-",
          "slug": "p4ha1"
        },
        {
          "symbol": "ECD",
          "ensemblId": "ENSG00000122882",
          "biotype": "protein_coding",
          "start": 73101927,
          "end": 73169055,
          "strand": "-",
          "slug": "ecd"
        },
        {
          "symbol": "NUDT13",
          "ensemblId": "ENSG00000166321",
          "biotype": "protein_coding",
          "start": 73110375,
          "end": 73131828,
          "strand": "+",
          "slug": "nudt13"
        },
        {
          "symbol": "FAM149B1",
          "ensemblId": "ENSG00000138286",
          "biotype": "protein_coding",
          "start": 73168118,
          "end": 73244504,
          "strand": "+",
          "slug": "fam149b1"
        },
        {
          "symbol": "DNAJC9",
          "ensemblId": "ENSG00000213551",
          "biotype": "protein_coding",
          "start": 73183362,
          "end": 73247319,
          "strand": "-",
          "slug": "dnajc9"
        },
        {
          "symbol": "CFAP70",
          "ensemblId": "ENSG00000156042",
          "biotype": "protein_coding",
          "start": 73253762,
          "end": 73358868,
          "strand": "-",
          "slug": "cfap70"
        },
        {
          "symbol": "ANXA7",
          "ensemblId": "ENSG00000138279",
          "biotype": "protein_coding",
          "start": 73365027,
          "end": 73414731,
          "strand": "-",
          "slug": "anxa7"
        },
        {
          "symbol": "MSS51",
          "ensemblId": "ENSG00000166343",
          "biotype": "protein_coding",
          "start": 73423579,
          "end": 73433567,
          "strand": "-",
          "slug": "mss51"
        },
        {
          "symbol": "PPP3CB",
          "ensemblId": "ENSG00000107758",
          "biotype": "protein_coding",
          "start": 73436418,
          "end": 73496034,
          "strand": "-",
          "slug": "ppp3cb"
        },
        {
          "symbol": "USP54",
          "ensemblId": "ENSG00000166348",
          "biotype": "protein_coding",
          "start": 73497538,
          "end": 73626117,
          "strand": "-",
          "slug": "usp54"
        },
        {
          "symbol": "MYOZ1",
          "ensemblId": "ENSG00000177791",
          "biotype": "protein_coding",
          "start": 73631556,
          "end": 73642103,
          "strand": "-",
          "slug": "myoz1"
        },
        {
          "symbol": "SYNPO2L",
          "ensemblId": "ENSG00000166317",
          "biotype": "protein_coding",
          "start": 73644881,
          "end": 73663803,
          "strand": "-",
          "slug": "synpo2l"
        },
        {
          "symbol": "AGAP5",
          "ensemblId": "ENSG00000172650",
          "biotype": "protein_coding",
          "start": 73674276,
          "end": 73698109,
          "strand": "-",
          "slug": "agap5"
        },
        {
          "symbol": "SEC24C",
          "ensemblId": "ENSG00000176986",
          "biotype": "protein_coding",
          "start": 73744348,
          "end": 73772173,
          "strand": "+",
          "slug": "sec24c"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "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": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "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": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mild-fetal-ventriculomegaly",
        "name": "Mild fetal ventriculomegaly",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-fetal-ventriculomegaly"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}