{
  "url": "https://dantelabs.com/sv/genes/pcdh12",
  "gene": {
    "slug": "pcdh12",
    "symbol": "PCDH12",
    "name": "protocadherin 12",
    "hgnc": "HGNC:8657",
    "summary": null,
    "location": "5q31.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000113555",
    "entrezId": 51294,
    "omim": [
      "605622"
    ],
    "uniprot": [
      "Q9NPG4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 141943581,
      "end": 141958202,
      "strand": "-",
      "ensemblTranscript": "ENST00000231484.4",
      "refseqTranscript": "NM_016580.4",
      "ensemblProtein": "ENSP00000231484.3",
      "refseqProtein": "NP_057664.1",
      "exons": [
        {
          "start": 141943581,
          "end": 141945805
        },
        {
          "start": 141949432,
          "end": 141949583
        },
        {
          "start": 141951493,
          "end": 141951590
        },
        {
          "start": 141954972,
          "end": 141958202
        }
      ],
      "cds": {
        "start": 141945381,
        "end": 141957851
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 141323150,
      "end": 141349304,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 141450892,
      "end": 142450891,
      "genes": [
        {
          "symbol": "PCDHGA1",
          "ensemblId": "ENSG00000204956",
          "biotype": "protein_coding",
          "start": 141330495,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga1"
        },
        {
          "symbol": "PCDHGA2",
          "ensemblId": "ENSG00000081853",
          "biotype": "protein_coding",
          "start": 141338754,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga2"
        },
        {
          "symbol": "PCDHGA3",
          "ensemblId": "ENSG00000254245",
          "biotype": "protein_coding",
          "start": 141343819,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga3"
        },
        {
          "symbol": "PCDHGB1",
          "ensemblId": "ENSG00000254221",
          "biotype": "protein_coding",
          "start": 141350083,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb1"
        },
        {
          "symbol": "PCDHGA4",
          "ensemblId": "ENSG00000262576",
          "biotype": "protein_coding",
          "start": 141355004,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga4"
        },
        {
          "symbol": "PCDHGB2",
          "ensemblId": "ENSG00000253910",
          "biotype": "protein_coding",
          "start": 141359971,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb2"
        },
        {
          "symbol": "PCDHGA5",
          "ensemblId": "ENSG00000253485",
          "biotype": "protein_coding",
          "start": 141364162,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga5"
        },
        {
          "symbol": "PCDHGB3",
          "ensemblId": "ENSG00000262209",
          "biotype": "protein_coding",
          "start": 141370237,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb3"
        },
        {
          "symbol": "PCDHGA6",
          "ensemblId": "ENSG00000253731",
          "biotype": "protein_coding",
          "start": 141373878,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga6"
        },
        {
          "symbol": "PCDHGA7",
          "ensemblId": "ENSG00000253537",
          "biotype": "protein_coding",
          "start": 141382702,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga7"
        },
        {
          "symbol": "PCDHGB4",
          "ensemblId": "ENSG00000253953",
          "biotype": "protein_coding",
          "start": 141387698,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb4"
        },
        {
          "symbol": "PCDHGA8",
          "ensemblId": "ENSG00000253767",
          "biotype": "protein_coding",
          "start": 141390157,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga8"
        },
        {
          "symbol": "PCDHGB5",
          "ensemblId": "ENSG00000276547",
          "biotype": "protein_coding",
          "start": 141397942,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb5"
        },
        {
          "symbol": "PCDHGA9",
          "ensemblId": "ENSG00000261934",
          "biotype": "protein_coding",
          "start": 141402765,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga9"
        },
        {
          "symbol": "PCDHGB6",
          "ensemblId": "ENSG00000253305",
          "biotype": "protein_coding",
          "start": 141407989,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb6"
        },
        {
          "symbol": "PCDHGA10",
          "ensemblId": "ENSG00000253846",
          "biotype": "protein_coding",
          "start": 141412981,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga10"
        },
        {
          "symbol": "PCDHGB7",
          "ensemblId": "ENSG00000254122",
          "biotype": "protein_coding",
          "start": 141417642,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgb7"
        },
        {
          "symbol": "PCDHGA11",
          "ensemblId": "ENSG00000253873",
          "biotype": "protein_coding",
          "start": 141421021,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga11"
        },
        {
          "symbol": "PCDHGA12",
          "ensemblId": "ENSG00000253159",
          "biotype": "protein_coding",
          "start": 141430507,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhga12"
        },
        {
          "symbol": "PCDHGC3",
          "ensemblId": "ENSG00000240184",
          "biotype": "protein_coding",
          "start": 141475929,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgc3"
        },
        {
          "symbol": "PCDHGC4",
          "ensemblId": "ENSG00000242419",
          "biotype": "protein_coding",
          "start": 141484997,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgc4"
        },
        {
          "symbol": "PCDHGC5",
          "ensemblId": "ENSG00000240764",
          "biotype": "protein_coding",
          "start": 141489067,
          "end": 141512977,
          "strand": "+",
          "slug": "pcdhgc5"
        },
        {
          "symbol": "DIAPH1",
          "ensemblId": "ENSG00000131504",
          "biotype": "protein_coding",
          "start": 141515016,
          "end": 141619194,
          "strand": "-",
          "slug": "diaph1"
        },
        {
          "symbol": "HDAC3",
          "ensemblId": "ENSG00000171720",
          "biotype": "protein_coding",
          "start": 141620766,
          "end": 141637304,
          "strand": "-",
          "slug": "hdac3"
        },
        {
          "symbol": "RELL2",
          "ensemblId": "ENSG00000164620",
          "biotype": "protein_coding",
          "start": 141636950,
          "end": 141641065,
          "strand": "+",
          "slug": "rell2"
        },
        {
          "symbol": "FCHSD1",
          "ensemblId": "ENSG00000197948",
          "biotype": "protein_coding",
          "start": 141639296,
          "end": 141651430,
          "strand": "-",
          "slug": "fchsd1"
        },
        {
          "symbol": "ARAP3",
          "ensemblId": "ENSG00000120318",
          "biotype": "protein_coding",
          "start": 141653204,
          "end": 141682255,
          "strand": "-",
          "slug": "arap3"
        },
        {
          "symbol": "PCDH1",
          "ensemblId": "ENSG00000156453",
          "biotype": "protein_coding",
          "start": 141853090,
          "end": 141879246,
          "strand": "-",
          "slug": "pcdh1"
        },
        {
          "symbol": "DELE1",
          "ensemblId": "ENSG00000081791",
          "biotype": "protein_coding",
          "start": 141923800,
          "end": 141952031,
          "strand": "+",
          "slug": "dele1"
        },
        {
          "symbol": "RNF14",
          "ensemblId": "ENSG00000013561",
          "biotype": "protein_coding",
          "start": 141958305,
          "end": 142003016,
          "strand": "+",
          "slug": "rnf14"
        },
        {
          "symbol": "GNPDA1",
          "ensemblId": "ENSG00000113552",
          "biotype": "protein_coding",
          "start": 141991749,
          "end": 142013061,
          "strand": "-",
          "slug": "gnpda1"
        },
        {
          "symbol": "NDFIP1",
          "ensemblId": "ENSG00000131507",
          "biotype": "protein_coding",
          "start": 142108515,
          "end": 142171800,
          "strand": "+",
          "slug": "ndfip1"
        },
        {
          "symbol": "SPRY4",
          "ensemblId": "ENSG00000187678",
          "biotype": "protein_coding",
          "start": 142310420,
          "end": 142326455,
          "strand": "-",
          "slug": "spry4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "focal-clonic-seizure",
        "name": "Focal clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-clonic-seizure"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "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": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "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": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}