{
  "url": "https://dantelabs.com/fr/genes/sik3",
  "gene": {
    "slug": "sik3",
    "symbol": "SIK3",
    "name": "SIK family kinase 3",
    "hgnc": "HGNC:29165",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ12240",
      "L19",
      "KIAA0999",
      "QSK"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000160584",
    "entrezId": 23387,
    "omim": [
      "614776"
    ],
    "uniprot": [
      "Q9Y2K2"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 116843402,
      "end": 117098428,
      "strand": "-",
      "ensemblTranscript": "ENST00000445177.6",
      "refseqTranscript": "NM_001366686.3",
      "ensemblProtein": "ENSP00000391295.2",
      "refseqProtein": "NP_001353615.1",
      "exons": [
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
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      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "BUD13",
          "ensemblId": "ENSG00000137656",
          "biotype": "protein_coding",
          "start": 116748170,
          "end": 116773039,
          "strand": "-",
          "slug": "bud13"
        },
        {
          "symbol": "ZPR1",
          "ensemblId": "ENSG00000109917",
          "biotype": "protein_coding",
          "start": 116773799,
          "end": 116788477,
          "strand": "-",
          "slug": "zpr1"
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        {
          "symbol": "APOA5",
          "ensemblId": "ENSG00000110243",
          "biotype": "protein_coding",
          "start": 116789014,
          "end": 116793026,
          "strand": "-",
          "slug": "apoa5"
        },
        {
          "symbol": "APOA4",
          "ensemblId": "ENSG00000110244",
          "biotype": "protein_coding",
          "start": 116820700,
          "end": 116823427,
          "strand": "-",
          "slug": "apoa4"
        },
        {
          "symbol": "APOC3",
          "ensemblId": "ENSG00000110245",
          "biotype": "protein_coding",
          "start": 116827019,
          "end": 116835254,
          "strand": "+",
          "slug": "apoc3"
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        {
          "symbol": "APOA1",
          "ensemblId": "ENSG00000118137",
          "biotype": "protein_coding",
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          "end": 116842065,
          "strand": "-",
          "slug": "apoa1"
        },
        {
          "symbol": "PAFAH1B2",
          "ensemblId": "ENSG00000168092",
          "biotype": "protein_coding",
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          "slug": "pafah1b2"
        },
        {
          "symbol": "SIDT2",
          "ensemblId": "ENSG00000149577",
          "biotype": "protein_coding",
          "start": 117178730,
          "end": 117197452,
          "strand": "+",
          "slug": "sidt2"
        },
        {
          "symbol": "TAGLN",
          "ensemblId": "ENSG00000149591",
          "biotype": "protein_coding",
          "start": 117197509,
          "end": 117207464,
          "strand": "+",
          "slug": "tagln"
        },
        {
          "symbol": "PCSK7",
          "ensemblId": "ENSG00000160613",
          "biotype": "protein_coding",
          "start": 117202588,
          "end": 117232628,
          "strand": "-",
          "slug": "pcsk7"
        },
        {
          "symbol": "RNF214",
          "ensemblId": "ENSG00000167257",
          "biotype": "protein_coding",
          "start": 117232154,
          "end": 117287429,
          "strand": "+",
          "slug": "rnf214"
        },
        {
          "symbol": "BACE1",
          "ensemblId": "ENSG00000186318",
          "biotype": "protein_coding",
          "start": 117285232,
          "end": 117316291,
          "strand": "-",
          "slug": "bace1"
        },
        {
          "symbol": "CEP164",
          "ensemblId": "ENSG00000110274",
          "biotype": "protein_coding",
          "start": 117314557,
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          "strand": "+",
          "slug": "cep164"
        },
        {
          "symbol": "DSCAML1",
          "ensemblId": "ENSG00000177103",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "dscaml1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "annular-pancreas",
        "name": "Annular pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/annular-pancreas"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "chiari-malformation",
        "name": "Chiari malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chiari-malformation"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-circulating-insulin-like-growth-factor-1-concentration",
        "name": "Decreased circulating insulin-like growth factor 1 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-insulin-like-growth-factor-1-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "delayed-ability-to-sit",
        "name": "Delayed ability to sit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-sit"
      },
      {
        "slug": "delayed-pubic-bone-ossification",
        "name": "Delayed maturation of pubic bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-pubic-bone-ossification"
      },
      {
        "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": "sclerosis-of-skull-base",
        "name": "Dense bone of skull base",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sclerosis-of-skull-base"
      },
      {
        "slug": "mesomelia",
        "name": "Disproportionately short middle portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mesomelia"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "elbow-contracture",
        "name": "Elbow contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elbow-contracture"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "underdeveloped-supraorbital-ridges",
        "name": "Flattened bony protrusion above eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges"
      },
      {
        "slug": "platybasia",
        "name": "Flattening of the skull base",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/platybasia"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "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": "allergic-rhinitis",
        "name": "Hay fever",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/allergic-rhinitis"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "irregular-epiphyses",
        "name": "Irregular end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irregular-epiphyses"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "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": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "ulnar-deviation-of-the-wrist",
        "name": "Ulnar deviation of the wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-wrist"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}