{
  "url": "https://dantelabs.com/cs/genes/pik3r5",
  "gene": {
    "slug": "pik3r5",
    "symbol": "PIK3R5",
    "name": "phosphoinositide-3-kinase regulatory subunit 5",
    "hgnc": "HGNC:30035",
    "summary": null,
    "location": "17p13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "P101-PI3K",
      "p101"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000141506",
    "entrezId": 23533,
    "omim": [
      "611317"
    ],
    "uniprot": [
      "Q8WYR1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 8878916,
      "end": 8965707,
      "strand": "-",
      "ensemblTranscript": "ENST00000447110.6",
      "refseqTranscript": "NM_001142633.3",
      "ensemblProtein": "ENSP00000392812.1",
      "refseqProtein": "NP_001136105.1",
      "exons": [
        {
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        {
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        {
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      ],
      "cds": {
        "start": 8880639,
        "end": 8911494
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 8782233,
      "end": 8869029,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 8422312,
      "end": 9422311,
      "genes": [
        {
          "symbol": "NDEL1",
          "ensemblId": "ENSG00000166579",
          "biotype": "protein_coding",
          "start": 8408528,
          "end": 8501107,
          "strand": "+",
          "slug": "ndel1"
        },
        {
          "symbol": "MYH10",
          "ensemblId": "ENSG00000133026",
          "biotype": "protein_coding",
          "start": 8474205,
          "end": 8632303,
          "strand": "-",
          "slug": "myh10"
        },
        {
          "symbol": "CCDC42",
          "ensemblId": "ENSG00000161973",
          "biotype": "protein_coding",
          "start": 8729930,
          "end": 8745970,
          "strand": "-",
          "slug": "ccdc42"
        },
        {
          "symbol": "SPDYE4",
          "ensemblId": "ENSG00000183318",
          "biotype": "protein_coding",
          "start": 8747524,
          "end": 8758559,
          "strand": "-",
          "slug": "spdye4"
        },
        {
          "symbol": "MFSD6L",
          "ensemblId": "ENSG00000185156",
          "biotype": "protein_coding",
          "start": 8797110,
          "end": 8799365,
          "strand": "-",
          "slug": "mfsd6l"
        },
        {
          "symbol": "PIK3R6",
          "ensemblId": "ENSG00000276231",
          "biotype": "protein_coding",
          "start": 8802722,
          "end": 8867696,
          "strand": "-",
          "slug": "pik3r6"
        },
        {
          "symbol": "NTN1",
          "ensemblId": "ENSG00000065320",
          "biotype": "protein_coding",
          "start": 9003080,
          "end": 9244000,
          "strand": "+",
          "slug": "ntn1"
        },
        {
          "symbol": "STX8",
          "ensemblId": "ENSG00000170310",
          "biotype": "protein_coding",
          "start": 9250149,
          "end": 9576591,
          "strand": "-",
          "slug": "stx8"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "head-tremor",
        "name": "Head tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/head-tremor"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "saccadic-smooth-pursuit-interruptions",
        "name": "Saccadic smooth pursuit interruptions",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions"
      },
      {
        "slug": "slow-saccadic-eye-movements",
        "name": "Slow eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}