{
  "url": "https://dantelabs.com/et/genes/ywhae",
  "gene": {
    "slug": "ywhae",
    "symbol": "YWHAE",
    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon",
    "hgnc": "HGNC:12851",
    "summary": null,
    "location": "17p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ45465"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108953",
    "entrezId": 7531,
    "omim": [
      "605066"
    ],
    "uniprot": [
      "P62258"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 1344275,
      "end": 1400222,
      "strand": "-",
      "ensemblTranscript": "ENST00000264335.13",
      "refseqTranscript": "NM_006761.5",
      "ensemblProtein": "ENSP00000264335.8",
      "refseqProtein": "NP_006752.1",
      "exons": [
        {
          "start": 1344275,
          "end": 1345499
        },
        {
          "start": 1354211,
          "end": 1354347
        },
        {
          "start": 1361092,
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        },
        {
          "start": 1361902,
          "end": 1362008
        },
        {
          "start": 1364859,
          "end": 1365058
        },
        {
          "start": 1400047,
          "end": 1400222
        }
      ],
      "cds": {
        "start": 1345447,
        "end": 1400110
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 1247566,
      "end": 1303672,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 872249,
      "end": 1872248,
      "genes": [
        {
          "symbol": "NXN",
          "ensemblId": "ENSG00000167693",
          "biotype": "protein_coding",
          "start": 799310,
          "end": 979816,
          "strand": "-",
          "slug": "nxn"
        },
        {
          "symbol": "TIMM22",
          "ensemblId": "ENSG00000177370",
          "biotype": "protein_coding",
          "start": 997090,
          "end": 1003671,
          "strand": "+",
          "slug": "timm22"
        },
        {
          "symbol": "ABR",
          "ensemblId": "ENSG00000159842",
          "biotype": "protein_coding",
          "start": 1003519,
          "end": 1229738,
          "strand": "-",
          "slug": "abr"
        },
        {
          "symbol": "BHLHA9",
          "ensemblId": "ENSG00000205899",
          "biotype": "protein_coding",
          "start": 1270444,
          "end": 1271815,
          "strand": "+",
          "slug": "bhlha9"
        },
        {
          "symbol": "TRARG1",
          "ensemblId": "ENSG00000184811",
          "biotype": "protein_coding",
          "start": 1279554,
          "end": 1300978,
          "strand": "+",
          "slug": "trarg1"
        },
        {
          "symbol": "CRK",
          "ensemblId": "ENSG00000167193",
          "biotype": "protein_coding",
          "start": 1420689,
          "end": 1463162,
          "strand": "-",
          "slug": "crk"
        },
        {
          "symbol": "MYO1C",
          "ensemblId": "ENSG00000197879",
          "biotype": "protein_coding",
          "start": 1464186,
          "end": 1492707,
          "strand": "-",
          "slug": "myo1c"
        },
        {
          "symbol": "INPP5K",
          "ensemblId": "ENSG00000132376",
          "biotype": "protein_coding",
          "start": 1494571,
          "end": 1516759,
          "strand": "-",
          "slug": "inpp5k"
        },
        {
          "symbol": "PITPNA",
          "ensemblId": "ENSG00000174238",
          "biotype": "protein_coding",
          "start": 1517718,
          "end": 1562861,
          "strand": "-",
          "slug": "pitpna"
        },
        {
          "symbol": "SLC43A2",
          "ensemblId": "ENSG00000167703",
          "biotype": "protein_coding",
          "start": 1569268,
          "end": 1630103,
          "strand": "-",
          "slug": "slc43a2"
        },
        {
          "symbol": "SCARF1",
          "ensemblId": "ENSG00000074660",
          "biotype": "protein_coding",
          "start": 1633848,
          "end": 1646122,
          "strand": "-",
          "slug": "scarf1"
        },
        {
          "symbol": "RILP",
          "ensemblId": "ENSG00000167705",
          "biotype": "protein_coding",
          "start": 1646138,
          "end": 1650083,
          "strand": "-",
          "slug": "rilp"
        },
        {
          "symbol": "PRPF8",
          "ensemblId": "ENSG00000174231",
          "biotype": "protein_coding",
          "start": 1650624,
          "end": 1684909,
          "strand": "-",
          "slug": "prpf8"
        },
        {
          "symbol": "TLCD2",
          "ensemblId": "ENSG00000185561",
          "biotype": "protein_coding",
          "start": 1688598,
          "end": 1710639,
          "strand": "-",
          "slug": "tlcd2"
        },
        {
          "symbol": "WDR81",
          "ensemblId": "ENSG00000167716",
          "biotype": "protein_coding",
          "start": 1716523,
          "end": 1738599,
          "strand": "+",
          "slug": "wdr81"
        },
        {
          "symbol": "SERPINF2",
          "ensemblId": "ENSG00000167711",
          "biotype": "protein_coding",
          "start": 1742069,
          "end": 1755271,
          "strand": "+",
          "slug": "serpinf2"
        },
        {
          "symbol": "SERPINF1",
          "ensemblId": "ENSG00000132386",
          "biotype": "protein_coding",
          "start": 1761958,
          "end": 1777627,
          "strand": "+",
          "slug": "serpinf1"
        },
        {
          "symbol": "SMYD4",
          "ensemblId": "ENSG00000186532",
          "biotype": "protein_coding",
          "start": 1779485,
          "end": 1830634,
          "strand": "-",
          "slug": "smyd4"
        },
        {
          "symbol": "RPA1",
          "ensemblId": "ENSG00000132383",
          "biotype": "protein_coding",
          "start": 1829702,
          "end": 1900082,
          "strand": "+",
          "slug": "rpa1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormal-upper-lip-morphology",
        "name": "Abnormality of upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-upper-lip-morphology"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "congenital-hip-dislocation",
        "name": "Dislocated hip since birth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hip-dislocation"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "sacral-dimple",
        "name": "Spinal dimple",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sacral-dimple"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}