{
  "url": "https://dantelabs.com/lt/genes/trappc2l",
  "gene": {
    "slug": "trappc2l",
    "symbol": "TRAPPC2L",
    "name": "trafficking protein particle complex subunit 2L",
    "hgnc": "HGNC:30887",
    "summary": null,
    "location": "16q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "HSPC176"
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    "previousSymbols": [],
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    "entrezId": 51693,
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    "uniprot": [
      "Q9UL33"
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      "release": "v1.5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000696289.1",
      "refseqTranscript": "NM_001318525.2",
      "ensemblProtein": "ENSP00000512526.1",
      "refseqProtein": "NP_001305454.1",
      "exons": [
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      "cds": {
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        "end": 88860959
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
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    "neighbourhood": {
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      "genes": [
        {
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          "ensemblId": "ENSG00000225614",
          "biotype": "protein_coding",
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        {
          "symbol": "ZFPM1",
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        {
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          "biotype": "protein_coding",
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        {
          "symbol": "IL17C",
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          "slug": "il17c"
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        {
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        {
          "symbol": "MVD",
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        {
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          "biotype": "protein_coding",
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          "slug": "snai3"
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        {
          "symbol": "RNF166",
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        {
          "symbol": "CTU2",
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        {
          "symbol": "PIEZO1",
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          "start": 88715338,
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        {
          "symbol": "CDT1",
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        {
          "symbol": "APRT",
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        {
          "symbol": "GALNS",
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        },
        {
          "symbol": "PABPN1L",
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        {
          "symbol": "CBFA2T3",
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        {
          "symbol": "ACSF3",
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        {
          "symbol": "CDH15",
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          "slug": "cdh15"
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        {
          "symbol": "SLC22A31",
          "ensemblId": "ENSG00000259803",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "ZNF778",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "ANKRD11",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288715",
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        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "rhabdomyolysis",
        "name": "Breakdown of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhabdomyolysis"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not 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/secondary-microcephaly"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}