{
  "url": "https://dantelabs.com/et/genes/tmlhe",
  "gene": {
    "slug": "tmlhe",
    "symbol": "TMLHE",
    "name": "trimethyllysine hydroxylase, epsilon",
    "hgnc": "HGNC:18308",
    "summary": null,
    "location": "Xq28",
    "locusType": "gene with protein product",
    "aliases": [
      "TMLH",
      "FLJ10727",
      "BBOX2",
      "XAP130"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000185973",
    "entrezId": 55217,
    "omim": [
      "300777"
    ],
    "uniprot": [
      "Q9NVH6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 155489011,
      "end": 155612952,
      "strand": "-",
      "ensemblTranscript": "ENST00000334398.8",
      "refseqTranscript": "NM_018196.4",
      "ensemblProtein": "ENSP00000335261.3",
      "refseqProtein": "NP_060666.1",
      "exons": [
        {
          "start": 155489011,
          "end": 155491666
        },
        {
          "start": 155492357,
          "end": 155492495
        },
        {
          "start": 155506898,
          "end": 155507134
        },
        {
          "start": 155511673,
          "end": 155511792
        },
        {
          "start": 155513986,
          "end": 155514265
        },
        {
          "start": 155524456,
          "end": 155524632
        },
        {
          "start": 155545096,
          "end": 155545277
        },
        {
          "start": 155612792,
          "end": 155612952
        }
      ],
      "cds": {
        "start": 155491535,
        "end": 155545276
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 154719776,
      "end": 154899605,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 155050982,
      "end": 156050981,
      "genes": [
        {
          "symbol": "FUNDC2",
          "ensemblId": "ENSG00000165775",
          "biotype": "protein_coding",
          "start": 155025980,
          "end": 155065641,
          "strand": "+",
          "slug": "fundc2"
        },
        {
          "symbol": "CMC4",
          "ensemblId": "ENSG00000182712",
          "biotype": "protein_coding",
          "start": 155060021,
          "end": 155071303,
          "strand": "-",
          "slug": "cmc4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288258",
          "biotype": "protein_coding",
          "start": 155061622,
          "end": 155065519,
          "strand": "-"
        },
        {
          "symbol": "MTCP1",
          "ensemblId": "ENSG00000214827",
          "biotype": "protein_coding",
          "start": 155064034,
          "end": 155147937,
          "strand": "-",
          "slug": "mtcp1"
        },
        {
          "symbol": "BRCC3",
          "ensemblId": "ENSG00000185515",
          "biotype": "protein_coding",
          "start": 155071416,
          "end": 155128969,
          "strand": "+",
          "slug": "brcc3"
        },
        {
          "symbol": "VBP1",
          "ensemblId": "ENSG00000155959",
          "biotype": "protein_coding",
          "start": 155197007,
          "end": 155239841,
          "strand": "+",
          "slug": "vbp1"
        },
        {
          "symbol": "RAB39B",
          "ensemblId": "ENSG00000155961",
          "biotype": "protein_coding",
          "start": 155258235,
          "end": 155264531,
          "strand": "-",
          "slug": "rab39b"
        },
        {
          "symbol": "CLIC2",
          "ensemblId": "ENSG00000155962",
          "biotype": "protein_coding",
          "start": 155272944,
          "end": 155334824,
          "strand": "-",
          "slug": "clic2"
        },
        {
          "symbol": "H2AB2",
          "ensemblId": "ENSG00000277858",
          "biotype": "protein_coding",
          "start": 155380709,
          "end": 155381299,
          "strand": "+",
          "slug": "h2ab2"
        },
        {
          "symbol": "F8A2",
          "ensemblId": "ENSG00000288709",
          "biotype": "protein_coding",
          "start": 155382095,
          "end": 155383801,
          "strand": "+",
          "slug": "f8a2"
        },
        {
          "symbol": "F8A3",
          "ensemblId": "ENSG00000277150",
          "biotype": "protein_coding",
          "start": 155456914,
          "end": 155458620,
          "strand": "-",
          "slug": "f8a3"
        },
        {
          "symbol": "H2AB3",
          "ensemblId": "ENSG00000277745",
          "biotype": "protein_coding",
          "start": 155459415,
          "end": 155460005,
          "strand": "-",
          "slug": "h2ab3"
        },
        {
          "symbol": "SPRY3",
          "ensemblId": "ENSG00000168939",
          "biotype": "protein_coding",
          "start": 155612298,
          "end": 155782459,
          "strand": "+",
          "slug": "spry3"
        },
        {
          "symbol": "VAMP7",
          "ensemblId": "ENSG00000124333",
          "biotype": "protein_coding",
          "start": 155881227,
          "end": 155943769,
          "strand": "+",
          "slug": "vamp7"
        },
        {
          "symbol": "IL9R",
          "ensemblId": "ENSG00000124334",
          "biotype": "protein_coding",
          "start": 155997651,
          "end": 156013017,
          "strand": "+",
          "slug": "il9r"
        },
        {
          "symbol": "WASH6P",
          "ensemblId": "ENSG00000182484",
          "biotype": "protein_coding",
          "start": 156020826,
          "end": 156025710,
          "strand": "+",
          "slug": "wash6p"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "large-forehead",
        "name": "Large forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-forehead"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "underdeveloped-nasal-alae",
        "name": "Underdeveloped tissue around nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}