{
  "url": "https://dantelabs.com/fr/genes/ccdc78",
  "gene": {
    "slug": "ccdc78",
    "symbol": "CCDC78",
    "name": "coiled-coil domain containing 78",
    "hgnc": "HGNC:14153",
    "summary": null,
    "location": "16p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ34512"
    ],
    "previousSymbols": [
      "C16orf25"
    ],
    "ensemblId": "ENSG00000162004",
    "entrezId": 124093,
    "omim": [
      "614666"
    ],
    "uniprot": [
      "A2IDD5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 722582,
      "end": 726443,
      "strand": "-",
      "ensemblTranscript": "ENST00000345165.10",
      "refseqTranscript": "NM_001378030.1",
      "ensemblProtein": "ENSP00000316851.5",
      "refseqProtein": "NP_001364959.1",
      "exons": [
        {
          "start": 722582,
          "end": 722789
        },
        {
          "start": 722922,
          "end": 723022
        },
        {
          "start": 723095,
          "end": 723161
        },
        {
          "start": 723857,
          "end": 723936
        },
        {
          "start": 724106,
          "end": 724205
        },
        {
          "start": 724322,
          "end": 724509
        },
        {
          "start": 724681,
          "end": 724806
        },
        {
          "start": 724911,
          "end": 724989
        },
        {
          "start": 725078,
          "end": 725145
        },
        {
          "start": 725237,
          "end": 725293
        },
        {
          "start": 725413,
          "end": 725580
        },
        {
          "start": 725794,
          "end": 725880
        },
        {
          "start": 725966,
          "end": 726085
        },
        {
          "start": 726308,
          "end": 726443
        }
      ],
      "cds": {
        "start": 722678,
        "end": 726367
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 772582,
      "end": 776954,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 224513,
      "end": 1224512,
      "genes": [
        {
          "symbol": "LUC7L",
          "ensemblId": "ENSG00000007392",
          "biotype": "protein_coding",
          "start": 188943,
          "end": 229485,
          "strand": "-",
          "slug": "luc7l"
        },
        {
          "symbol": "FAM234A",
          "ensemblId": "ENSG00000167930",
          "biotype": "protein_coding",
          "start": 234521,
          "end": 272183,
          "strand": "+",
          "slug": "fam234a"
        },
        {
          "symbol": "RGS11",
          "ensemblId": "ENSG00000076344",
          "biotype": "protein_coding",
          "start": 268301,
          "end": 275980,
          "strand": "-",
          "slug": "rgs11"
        },
        {
          "symbol": "ARHGDIG",
          "ensemblId": "ENSG00000242173",
          "biotype": "protein_coding",
          "start": 280386,
          "end": 283010,
          "strand": "+",
          "slug": "arhgdig"
        },
        {
          "symbol": "PDIA2",
          "ensemblId": "ENSG00000185615",
          "biotype": "protein_coding",
          "start": 283152,
          "end": 287215,
          "strand": "+",
          "slug": "pdia2"
        },
        {
          "symbol": "AXIN1",
          "ensemblId": "ENSG00000103126",
          "biotype": "protein_coding",
          "start": 287440,
          "end": 352734,
          "strand": "-",
          "slug": "axin1"
        },
        {
          "symbol": "MRPL28",
          "ensemblId": "ENSG00000086504",
          "biotype": "protein_coding",
          "start": 365449,
          "end": 371289,
          "strand": "-",
          "slug": "mrpl28"
        },
        {
          "symbol": "PGAP6",
          "ensemblId": "ENSG00000129925",
          "biotype": "protein_coding",
          "start": 370779,
          "end": 387113,
          "strand": "-",
          "slug": "pgap6"
        },
        {
          "symbol": "NME4",
          "ensemblId": "ENSG00000103202",
          "biotype": "protein_coding",
          "start": 396725,
          "end": 410367,
          "strand": "+",
          "slug": "nme4"
        },
        {
          "symbol": "DECR2",
          "ensemblId": "ENSG00000242612",
          "biotype": "protein_coding",
          "start": 401834,
          "end": 412492,
          "strand": "+",
          "slug": "decr2"
        },
        {
          "symbol": "RAB11FIP3",
          "ensemblId": "ENSG00000090565",
          "biotype": "protein_coding",
          "start": 425593,
          "end": 523012,
          "strand": "+",
          "slug": "rab11fip3"
        },
        {
          "symbol": "CAPN15",
          "ensemblId": "ENSG00000103326",
          "biotype": "protein_coding",
          "start": 527698,
          "end": 554636,
          "strand": "+",
          "slug": "capn15"
        },
        {
          "symbol": "PRR35",
          "ensemblId": "ENSG00000161992",
          "biotype": "protein_coding",
          "start": 559688,
          "end": 565532,
          "strand": "+",
          "slug": "prr35"
        },
        {
          "symbol": "PIGQ",
          "ensemblId": "ENSG00000007541",
          "biotype": "protein_coding",
          "start": 566995,
          "end": 584121,
          "strand": "+",
          "slug": "pigq"
        },
        {
          "symbol": "NHLRC4",
          "ensemblId": "ENSG00000257108",
          "biotype": "protein_coding",
          "start": 567000,
          "end": 569495,
          "strand": "+",
          "slug": "nhlrc4"
        },
        {
          "symbol": "RAB40C",
          "ensemblId": "ENSG00000197562",
          "biotype": "protein_coding",
          "start": 589007,
          "end": 629348,
          "strand": "+",
          "slug": "rab40c"
        },
        {
          "symbol": "WFIKKN1",
          "ensemblId": "ENSG00000127578",
          "biotype": "protein_coding",
          "start": 629239,
          "end": 634117,
          "strand": "+",
          "slug": "wfikkn1"
        },
        {
          "symbol": "METTL26",
          "ensemblId": "ENSG00000130731",
          "biotype": "protein_coding",
          "start": 634412,
          "end": 636378,
          "strand": "-",
          "slug": "mettl26"
        },
        {
          "symbol": "MCRIP2",
          "ensemblId": "ENSG00000172366",
          "biotype": "protein_coding",
          "start": 636817,
          "end": 648475,
          "strand": "+",
          "slug": "mcrip2"
        },
        {
          "symbol": "WDR90",
          "ensemblId": "ENSG00000161996",
          "biotype": "protein_coding",
          "start": 649287,
          "end": 667837,
          "strand": "+",
          "slug": "wdr90"
        },
        {
          "symbol": "RHOT2",
          "ensemblId": "ENSG00000140983",
          "biotype": "protein_coding",
          "start": 668081,
          "end": 674174,
          "strand": "+",
          "slug": "rhot2"
        },
        {
          "symbol": "RHBDL1",
          "ensemblId": "ENSG00000103269",
          "biotype": "protein_coding",
          "start": 675605,
          "end": 678275,
          "strand": "+",
          "slug": "rhbdl1"
        },
        {
          "symbol": "STUB1",
          "ensemblId": "ENSG00000103266",
          "biotype": "protein_coding",
          "start": 679980,
          "end": 682870,
          "strand": "+",
          "slug": "stub1"
        },
        {
          "symbol": "JMJD8",
          "ensemblId": "ENSG00000161999",
          "biotype": "protein_coding",
          "start": 681666,
          "end": 684528,
          "strand": "-",
          "slug": "jmjd8"
        },
        {
          "symbol": "WDR24",
          "ensemblId": "ENSG00000127580",
          "biotype": "protein_coding",
          "start": 684614,
          "end": 690444,
          "strand": "-",
          "slug": "wdr24"
        },
        {
          "symbol": "FBXL16",
          "ensemblId": "ENSG00000127585",
          "biotype": "protein_coding",
          "start": 692498,
          "end": 705860,
          "strand": "-",
          "slug": "fbxl16"
        },
        {
          "symbol": "METRN",
          "ensemblId": "ENSG00000103260",
          "biotype": "protein_coding",
          "start": 715093,
          "end": 719796,
          "strand": "+",
          "slug": "metrn"
        },
        {
          "symbol": "ANTKMT",
          "ensemblId": "ENSG00000103254",
          "biotype": "protein_coding",
          "start": 720581,
          "end": 722590,
          "strand": "+",
          "slug": "antkmt"
        },
        {
          "symbol": "HAGHL",
          "ensemblId": "ENSG00000103253",
          "biotype": "protein_coding",
          "start": 726494,
          "end": 735525,
          "strand": "+",
          "slug": "haghl"
        },
        {
          "symbol": "CIAO3",
          "ensemblId": "ENSG00000103245",
          "biotype": "protein_coding",
          "start": 729721,
          "end": 741329,
          "strand": "-",
          "slug": "ciao3"
        },
        {
          "symbol": "MSLN",
          "ensemblId": "ENSG00000102854",
          "biotype": "protein_coding",
          "start": 760729,
          "end": 768866,
          "strand": "+",
          "slug": "msln"
        },
        {
          "symbol": "MSLNL",
          "ensemblId": "ENSG00000162006",
          "biotype": "protein_coding",
          "start": 769428,
          "end": 782054,
          "strand": "-",
          "slug": "mslnl"
        },
        {
          "symbol": "RPUSD1",
          "ensemblId": "ENSG00000007376",
          "biotype": "protein_coding",
          "start": 784974,
          "end": 788406,
          "strand": "-",
          "slug": "rpusd1"
        },
        {
          "symbol": "CHTF18",
          "ensemblId": "ENSG00000127586",
          "biotype": "protein_coding",
          "start": 788046,
          "end": 800737,
          "strand": "+",
          "slug": "chtf18"
        },
        {
          "symbol": "GNG13",
          "ensemblId": "ENSG00000127588",
          "biotype": "protein_coding",
          "start": 798020,
          "end": 800770,
          "strand": "-",
          "slug": "gng13"
        },
        {
          "symbol": "LMF1",
          "ensemblId": "ENSG00000103227",
          "biotype": "protein_coding",
          "start": 853618,
          "end": 981318,
          "strand": "-",
          "slug": "lmf1"
        },
        {
          "symbol": "SOX8",
          "ensemblId": "ENSG00000005513",
          "biotype": "protein_coding",
          "start": 981444,
          "end": 986979,
          "strand": "+",
          "slug": "sox8"
        },
        {
          "symbol": "SSTR5",
          "ensemblId": "ENSG00000162009",
          "biotype": "protein_coding",
          "start": 1063867,
          "end": 1081470,
          "strand": "+",
          "slug": "sstr5"
        },
        {
          "symbol": "C1QTNF8",
          "ensemblId": "ENSG00000184471",
          "biotype": "protein_coding",
          "start": 1088226,
          "end": 1099401,
          "strand": "-",
          "slug": "c1qtnf8"
        },
        {
          "symbol": "CACNA1H",
          "ensemblId": "ENSG00000196557",
          "biotype": "protein_coding",
          "start": 1153099,
          "end": 1224169,
          "strand": "+",
          "slug": "cacna1h"
        },
        {
          "symbol": "TPSG1",
          "ensemblId": "ENSG00000116176",
          "biotype": "protein_coding",
          "start": 1221651,
          "end": 1225793,
          "strand": "-",
          "slug": "tpsg1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}