{
  "url": "https://dantelabs.com/da/genes/shpk",
  "gene": {
    "slug": "shpk",
    "symbol": "SHPK",
    "name": "sedoheptulokinase",
    "hgnc": "HGNC:1492",
    "summary": null,
    "location": "17p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SHK"
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    "previousSymbols": [
      "CARKL"
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    "ensemblId": "ENSG00000197417",
    "entrezId": 23729,
    "omim": [
      "605060"
    ],
    "uniprot": [
      "Q9UHJ6"
    ],
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      "release": "v1.5",
      "chrom": "17",
      "start": 3608240,
      "end": 3636250,
      "strand": "-",
      "ensemblTranscript": "ENST00000225519.5",
      "refseqTranscript": "NM_013276.4",
      "ensemblProtein": "ENSP00000225519.3",
      "refseqProtein": "NP_037408.2",
      "exons": [
        {
          "start": 3608240,
          "end": 3610972
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        {
          "start": 3615337,
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      ],
      "cds": {
        "start": 3610560,
        "end": 3636219
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
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      "end": 3539616,
      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
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          "ensemblId": "ENSG00000183024",
          "biotype": "protein_coding",
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          "end": 3127551,
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        },
        {
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        {
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        {
          "symbol": "OR1A1",
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        {
          "symbol": "OR3A2",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "OR3A1",
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        },
        {
          "symbol": "OR1R1",
          "ensemblId": "ENSG00000180042",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "or1r1"
        },
        {
          "symbol": "OR1E1",
          "ensemblId": "ENSG00000180016",
          "biotype": "protein_coding",
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          "end": 3398410,
          "strand": "-",
          "slug": "or1e1"
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        {
          "symbol": "OR3A3",
          "ensemblId": "ENSG00000159961",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "OR1E2",
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          "biotype": "protein_coding",
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        {
          "symbol": "SPATA22",
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        },
        {
          "symbol": "ASPA",
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        },
        {
          "symbol": "TRPV3",
          "ensemblId": "ENSG00000167723",
          "biotype": "protein_coding",
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          "slug": "trpv3"
        },
        {
          "symbol": "TRPV1",
          "ensemblId": "ENSG00000196689",
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          "slug": "trpv1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000262304",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "CTNS",
          "ensemblId": "ENSG00000040531",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "TAX1BP3",
          "ensemblId": "ENSG00000213977",
          "biotype": "protein_coding",
          "start": 3659751,
          "end": 3668679,
          "strand": "-",
          "slug": "tax1bp3"
        },
        {
          "symbol": "P2RX5-TAX1BP3",
          "ensemblId": "ENSG00000257950",
          "biotype": "protein_coding",
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          "end": 3696194,
          "strand": "-",
          "slug": "p2rx5-tax1bp3"
        },
        {
          "symbol": "EMC6",
          "ensemblId": "ENSG00000127774",
          "biotype": "protein_coding",
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          "end": 3672835,
          "strand": "+",
          "slug": "emc6"
        },
        {
          "symbol": "P2RX5",
          "ensemblId": "ENSG00000083454",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "p2rx5"
        },
        {
          "symbol": "ITGAE",
          "ensemblId": "ENSG00000083457",
          "biotype": "protein_coding",
          "start": 3714628,
          "end": 3801225,
          "strand": "-",
          "slug": "itgae"
        },
        {
          "symbol": "HASPIN",
          "ensemblId": "ENSG00000177602",
          "biotype": "protein_coding",
          "start": 3723903,
          "end": 3726699,
          "strand": "+",
          "slug": "haspin"
        },
        {
          "symbol": "NCBP3",
          "ensemblId": "ENSG00000074356",
          "biotype": "protein_coding",
          "start": 3802158,
          "end": 3846263,
          "strand": "-",
          "slug": "ncbp3"
        },
        {
          "symbol": "CAMKK1",
          "ensemblId": "ENSG00000004660",
          "biotype": "protein_coding",
          "start": 3860315,
          "end": 3894891,
          "strand": "-",
          "slug": "camkk1"
        },
        {
          "symbol": "P2RX1",
          "ensemblId": "ENSG00000108405",
          "biotype": "protein_coding",
          "start": 3896592,
          "end": 3916580,
          "strand": "-",
          "slug": "p2rx1"
        },
        {
          "symbol": "ATP2A3",
          "ensemblId": "ENSG00000074370",
          "biotype": "protein_coding",
          "start": 3923866,
          "end": 3964499,
          "strand": "-",
          "slug": "atp2a3"
        },
        {
          "symbol": "ZZEF1",
          "ensemblId": "ENSG00000074755",
          "biotype": "protein_coding",
          "start": 4004432,
          "end": 4143628,
          "strand": "-",
          "slug": "zzef1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cns-myelination",
        "name": "Abnormal CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cns-myelination"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "abnormal-renal-tubule-morphology",
        "name": "Abnormal renal tubule morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-tubule-morphology"
      },
      {
        "slug": "abnormality-of-globe-location",
        "name": "Abnormality of eyeball location",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-globe-location"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cholestatic-liver-disease",
        "name": "Cholestatic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestatic-liver-disease"
      },
      {
        "slug": "shallow-orbits",
        "name": "Decreased depth of eye sockets",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shallow-orbits"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "breech-presentation",
        "name": "Feet or buttocks of fetus positioned near opening of uterus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/breech-presentation"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "diastasis-recti",
        "name": "Gap between large left and right abdominal muscles",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diastasis-recti"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "hypochromic-microcytic-anemia",
        "name": "Hypochromic microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia"
      },
      {
        "slug": "increased-urinary-sedoheptulose",
        "name": "Increased urinary sedoheptulose",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urinary-sedoheptulose"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "neonatal-asphyxia",
        "name": "Neonatal asphyxia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-asphyxia"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "postprandial-hyperglycemia",
        "name": "Postprandial hyperglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postprandial-hyperglycemia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "severe-postnatal-growth-retardation",
        "name": "Severe growth delay in children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "subcortical-cerebral-atrophy",
        "name": "Subcortical cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subcortical-cerebral-atrophy"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-fontanelles"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}