{
  "url": "https://dantelabs.com/fi/genes/tp53rk",
  "gene": {
    "slug": "tp53rk",
    "symbol": "TP53RK",
    "name": "TP53 regulating kinase",
    "hgnc": "HGNC:16197",
    "summary": null,
    "location": "20q13.12",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ101A2.2",
      "prpk",
      "Nori-2p",
      "BUD32",
      "TPRKB"
    ],
    "previousSymbols": [
      "C20orf64"
    ],
    "ensemblId": "ENSG00000172315",
    "entrezId": 112858,
    "omim": [
      "608679"
    ],
    "uniprot": [
      "Q96S44"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 46684365,
      "end": 46689444,
      "strand": "-",
      "ensemblTranscript": "ENST00000372114.4",
      "refseqTranscript": "NM_033550.4",
      "ensemblProtein": "ENSP00000361186.3",
      "refseqProtein": "NP_291028.3",
      "exons": [
        {
          "start": 46684365,
          "end": 46687231
        },
        {
          "start": 46689132,
          "end": 46689444
        }
      ],
      "cds": {
        "start": 46686753,
        "end": 46689414
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 45313004,
      "end": 45318418,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 46186905,
      "end": 47186904,
      "genes": [
        {
          "symbol": "CDH22",
          "ensemblId": "ENSG00000149654",
          "biotype": "protein_coding",
          "start": 46173737,
          "end": 46309009,
          "strand": "-",
          "slug": "cdh22"
        },
        {
          "symbol": "SLC35H1",
          "ensemblId": "ENSG00000080189",
          "biotype": "protein_coding",
          "start": 46345980,
          "end": 46364460,
          "strand": "-",
          "slug": "slc35h1"
        },
        {
          "symbol": "ELMO2",
          "ensemblId": "ENSG00000062598",
          "biotype": "protein_coding",
          "start": 46366045,
          "end": 46432985,
          "strand": "-",
          "slug": "elmo2"
        },
        {
          "symbol": "ZNF840P",
          "ensemblId": "ENSG00000184617",
          "biotype": "protein_coding",
          "start": 46459441,
          "end": 46495558,
          "strand": "+",
          "slug": "znf840p"
        },
        {
          "symbol": "ZNF334",
          "ensemblId": "ENSG00000198185",
          "biotype": "protein_coding",
          "start": 46499630,
          "end": 46513596,
          "strand": "-",
          "slug": "znf334"
        },
        {
          "symbol": "OCSTAMP",
          "ensemblId": "ENSG00000149635",
          "biotype": "protein_coding",
          "start": 46540946,
          "end": 46550654,
          "strand": "-",
          "slug": "ocstamp"
        },
        {
          "symbol": "SLC13A3",
          "ensemblId": "ENSG00000158296",
          "biotype": "protein_coding",
          "start": 46557823,
          "end": 46684467,
          "strand": "-",
          "slug": "slc13a3"
        },
        {
          "symbol": "SLC2A10",
          "ensemblId": "ENSG00000197496",
          "biotype": "protein_coding",
          "start": 46709577,
          "end": 46737312,
          "strand": "+",
          "slug": "slc2a10"
        },
        {
          "symbol": "EYA2",
          "ensemblId": "ENSG00000064655",
          "biotype": "protein_coding",
          "start": 46894587,
          "end": 47188844,
          "strand": "+",
          "slug": "eya2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-intervertebral-disk-morphology",
        "name": "Abnormal intervertebral disk morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-morphology"
      },
      {
        "slug": "abnormality-of-immune-system-physiology",
        "name": "Abnormality of immune system physiology",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aqueductal-stenosis",
        "name": "Aqueductal stenosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aqueductal-stenosis"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "congenital-nephrotic-syndrome",
        "name": "Congenital nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-nephrotic-syndrome"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diffuse-mesangial-sclerosis",
        "name": "Diffuse mesangial sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "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": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "large-face",
        "name": "Large face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-face"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-glabella",
        "name": "Prominent area between the eyebrows",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-glabella"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "primary-microcephaly",
        "name": "Small head present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primary-microcephaly"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "hiatus-hernia",
        "name": "Stomach hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hiatus-hernia"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "hypoplasia-of-the-ear-cartilage",
        "name": "Underdeveloped ear cartilage",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-ear-cartilage"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}