{
  "url": "https://dantelabs.com/ro/genes/rbck1",
  "gene": {
    "slug": "rbck1",
    "symbol": "RBCK1",
    "name": "RANBP2-type and C3HC4-type zinc finger containing 1",
    "hgnc": "HGNC:15864",
    "summary": null,
    "location": "20p13",
    "locusType": "gene with protein product",
    "aliases": [
      "RBCK2",
      "XAP4",
      "RNF54",
      "ZRANB4",
      "UBCE7IP3",
      "HOIL1"
    ],
    "previousSymbols": [
      "C20orf18"
    ],
    "ensemblId": "ENSG00000125826",
    "entrezId": 10616,
    "omim": [
      "610924"
    ],
    "uniprot": [
      "Q9BYM8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 408299,
      "end": 432139,
      "strand": "+",
      "ensemblTranscript": "ENST00000356286.10",
      "refseqTranscript": "NM_031229.4",
      "ensemblProtein": "ENSP00000348632.6",
      "refseqProtein": "NP_112506.2",
      "exons": [
        {
          "start": 408299,
          "end": 408779
        },
        {
          "start": 409881,
          "end": 410025
        },
        {
          "start": 417526,
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        {
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        },
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
          "start": 430350,
          "end": 432139
        }
      ],
      "cds": {
        "start": 408758,
        "end": 430430
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 388142,
      "end": 411610,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 1,
      "end": 920218,
      "genes": [
        {
          "symbol": "DEFB125",
          "ensemblId": "ENSG00000178591",
          "biotype": "protein_coding",
          "start": 87250,
          "end": 97094,
          "strand": "+",
          "slug": "defb125"
        },
        {
          "symbol": "DEFB126",
          "ensemblId": "ENSG00000125788",
          "biotype": "protein_coding",
          "start": 142590,
          "end": 145751,
          "strand": "+",
          "slug": "defb126"
        },
        {
          "symbol": "DEFB127",
          "ensemblId": "ENSG00000088782",
          "biotype": "protein_coding",
          "start": 157454,
          "end": 159163,
          "strand": "+",
          "slug": "defb127"
        },
        {
          "symbol": "DEFB128",
          "ensemblId": "ENSG00000185982",
          "biotype": "protein_coding",
          "start": 187853,
          "end": 189711,
          "strand": "-",
          "slug": "defb128"
        },
        {
          "symbol": "DEFB129",
          "ensemblId": "ENSG00000125903",
          "biotype": "protein_coding",
          "start": 227258,
          "end": 229886,
          "strand": "+",
          "slug": "defb129"
        },
        {
          "symbol": "DEFB132",
          "ensemblId": "ENSG00000186458",
          "biotype": "protein_coding",
          "start": 257717,
          "end": 261096,
          "strand": "+",
          "slug": "defb132"
        },
        {
          "symbol": "C20orf96",
          "ensemblId": "ENSG00000196476",
          "biotype": "protein_coding",
          "start": 270863,
          "end": 290778,
          "strand": "-",
          "slug": "c20orf96"
        },
        {
          "symbol": "ZCCHC3",
          "ensemblId": "ENSG00000247315",
          "biotype": "protein_coding",
          "start": 297570,
          "end": 300321,
          "strand": "+",
          "slug": "zcchc3"
        },
        {
          "symbol": "SOX12",
          "ensemblId": "ENSG00000177732",
          "biotype": "protein_coding",
          "start": 325552,
          "end": 330224,
          "strand": "+",
          "slug": "sox12"
        },
        {
          "symbol": "NRSN2",
          "ensemblId": "ENSG00000125841",
          "biotype": "protein_coding",
          "start": 346695,
          "end": 359706,
          "strand": "+",
          "slug": "nrsn2"
        },
        {
          "symbol": "TRIB3",
          "ensemblId": "ENSG00000101255",
          "biotype": "protein_coding",
          "start": 362835,
          "end": 398964,
          "strand": "+",
          "slug": "trib3"
        },
        {
          "symbol": "TBC1D20",
          "ensemblId": "ENSG00000125875",
          "biotype": "protein_coding",
          "start": 423596,
          "end": 462566,
          "strand": "-",
          "slug": "tbc1d20"
        },
        {
          "symbol": "CSNK2A1",
          "ensemblId": "ENSG00000101266",
          "biotype": "protein_coding",
          "start": 472498,
          "end": 543835,
          "strand": "-",
          "slug": "csnk2a1"
        },
        {
          "symbol": "TCF15",
          "ensemblId": "ENSG00000125878",
          "biotype": "protein_coding",
          "start": 603801,
          "end": 610316,
          "strand": "-",
          "slug": "tcf15"
        },
        {
          "symbol": "SRXN1",
          "ensemblId": "ENSG00000271303",
          "biotype": "protein_coding",
          "start": 646614,
          "end": 653404,
          "strand": "-",
          "slug": "srxn1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000270299",
          "biotype": "protein_coding",
          "start": 646626,
          "end": 675800,
          "strand": "-"
        },
        {
          "symbol": "SCRT2",
          "ensemblId": "ENSG00000215397",
          "biotype": "protein_coding",
          "start": 661596,
          "end": 675802,
          "strand": "-",
          "slug": "scrt2"
        },
        {
          "symbol": "SLC52A3",
          "ensemblId": "ENSG00000101276",
          "biotype": "protein_coding",
          "start": 758695,
          "end": 776015,
          "strand": "-",
          "slug": "slc52a3"
        },
        {
          "symbol": "FAM110A",
          "ensemblId": "ENSG00000125898",
          "biotype": "protein_coding",
          "start": 833707,
          "end": 857463,
          "strand": "+",
          "slug": "fam110a"
        },
        {
          "symbol": "ANGPT4",
          "ensemblId": "ENSG00000101280",
          "biotype": "protein_coding",
          "start": 869900,
          "end": 916335,
          "strand": "-",
          "slug": "angpt4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "hypoproteinemia",
        "name": "Decreased protein levels in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoproteinemia"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "lymphadenitis",
        "name": "Inflammation of the lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenitis"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neonatal-omphalitis",
        "name": "Neonatal omphalitis",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-omphalitis"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "hematochezia",
        "name": "Rectal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematochezia"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}