{
  "url": "https://dantelabs.com/et/genes/cnbp",
  "gene": {
    "slug": "cnbp",
    "symbol": "CNBP",
    "name": "CCHC-type zinc finger nucleic acid binding protein",
    "hgnc": "HGNC:13164",
    "summary": null,
    "location": "3q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RNF163",
      "ZCCHC22",
      "CNBP1"
    ],
    "previousSymbols": [
      "DM2",
      "ZNF9"
    ],
    "ensemblId": "ENSG00000169714",
    "entrezId": 7555,
    "omim": [
      "116955"
    ],
    "uniprot": [
      "P62633"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 129167827,
      "end": 129183896,
      "strand": "-",
      "ensemblTranscript": "ENST00000422453.7",
      "refseqTranscript": "NM_003418.5",
      "ensemblProtein": "ENSP00000410619.3",
      "refseqProtein": "NP_003409.1",
      "exons": [
        {
          "start": 129167827,
          "end": 129170570
        },
        {
          "start": 129171079,
          "end": 129171277
        },
        {
          "start": 129171446,
          "end": 129171538
        },
        {
          "start": 129171634,
          "end": 129171771
        },
        {
          "start": 129183776,
          "end": 129183896
        }
      ],
      "cds": {
        "start": 129170453,
        "end": 129171757
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 128888327,
      "end": 128902765,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 128675862,
      "end": 129675861,
      "genes": [
        {
          "symbol": "RPN1",
          "ensemblId": "ENSG00000163902",
          "biotype": "protein_coding",
          "start": 128619968,
          "end": 128681075,
          "strand": "-",
          "slug": "rpn1"
        },
        {
          "symbol": "RAB7A",
          "ensemblId": "ENSG00000075785",
          "biotype": "protein_coding",
          "start": 128693669,
          "end": 128825980,
          "strand": "+",
          "slug": "rab7a"
        },
        {
          "symbol": "ACAD9",
          "ensemblId": "ENSG00000177646",
          "biotype": "protein_coding",
          "start": 128879494,
          "end": 128924003,
          "strand": "+",
          "slug": "acad9"
        },
        {
          "symbol": "CFAP92",
          "ensemblId": "ENSG00000114656",
          "biotype": "protein_coding",
          "start": 128909866,
          "end": 129002690,
          "strand": "-",
          "slug": "cfap92"
        },
        {
          "symbol": "EFCC1",
          "ensemblId": "ENSG00000114654",
          "biotype": "protein_coding",
          "start": 129001302,
          "end": 129040742,
          "strand": "+",
          "slug": "efcc1"
        },
        {
          "symbol": "GP9",
          "ensemblId": "ENSG00000169704",
          "biotype": "protein_coding",
          "start": 129060774,
          "end": 129062435,
          "strand": "+",
          "slug": "gp9"
        },
        {
          "symbol": "RAB43",
          "ensemblId": "ENSG00000172780",
          "biotype": "protein_coding",
          "start": 129087569,
          "end": 129123694,
          "strand": "-",
          "slug": "rab43"
        },
        {
          "symbol": "ISY1-RAB43",
          "ensemblId": "ENSG00000261796",
          "biotype": "protein_coding",
          "start": 129087575,
          "end": 129161036,
          "strand": "-",
          "slug": "isy1-rab43"
        },
        {
          "symbol": "ISY1",
          "ensemblId": "ENSG00000240682",
          "biotype": "protein_coding",
          "start": 129127415,
          "end": 129161349,
          "strand": "-",
          "slug": "isy1"
        },
        {
          "symbol": "COPG1",
          "ensemblId": "ENSG00000181789",
          "biotype": "protein_coding",
          "start": 129249575,
          "end": 129278068,
          "strand": "+",
          "slug": "copg1"
        },
        {
          "symbol": "HMCES",
          "ensemblId": "ENSG00000183624",
          "biotype": "protein_coding",
          "start": 129278441,
          "end": 129306283,
          "strand": "+",
          "slug": "hmces"
        },
        {
          "symbol": "H1-10",
          "ensemblId": "ENSG00000184897",
          "biotype": "protein_coding",
          "start": 129314771,
          "end": 129316286,
          "strand": "-",
          "slug": "h1-10"
        },
        {
          "symbol": "EFCAB12",
          "ensemblId": "ENSG00000172771",
          "biotype": "protein_coding",
          "start": 129401321,
          "end": 129428645,
          "strand": "-",
          "slug": "efcab12"
        },
        {
          "symbol": "IFT122",
          "ensemblId": "ENSG00000163913",
          "biotype": "protein_coding",
          "start": 129429607,
          "end": 129520510,
          "strand": "+",
          "slug": "ift122"
        },
        {
          "symbol": "MBD4",
          "ensemblId": "ENSG00000129071",
          "biotype": "protein_coding",
          "start": 129430282,
          "end": 129440543,
          "strand": "-",
          "slug": "mbd4"
        },
        {
          "symbol": "RHO",
          "ensemblId": "ENSG00000163914",
          "biotype": "protein_coding",
          "start": 129528637,
          "end": 129535344,
          "strand": "+",
          "slug": "rho"
        },
        {
          "symbol": "H1-8",
          "ensemblId": "ENSG00000178804",
          "biotype": "protein_coding",
          "start": 129543175,
          "end": 129551467,
          "strand": "+",
          "slug": "h1-8"
        },
        {
          "symbol": "PLXND1",
          "ensemblId": "ENSG00000004399",
          "biotype": "protein_coding",
          "start": 129555213,
          "end": 129606826,
          "strand": "-",
          "slug": "plxnd1"
        },
        {
          "symbol": "TMCC1",
          "ensemblId": "ENSG00000172765",
          "biotype": "protein_coding",
          "start": 129647792,
          "end": 129893778,
          "strand": "-",
          "slug": "tmcc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "myotonic-dystrophy",
        "name": "Miotoonne düstroofia",
        "diseases": [
          {
            "mondoId": "MONDO:0016107",
            "name": "Miotoonne düstroofia",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Pärilik progresseeruv lihashaigus. Seda iseloomustavad lihaste atroofia ja hüpotoonia, katarakt, südame juhtesüsteemi häired ja endokrinopaatiad.",
            "management": "Mexiletiin miotoonia korral; südame stimulaator/ICD juhtesüsteemi haiguse korral; mitteinvasiivne ventilatsioon hingamispuudulikkuse korral; iga-aastane südame- ja kopsujälgimine; teatud anesteetikumide vältimine",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/myotonic-dystrophy"
      }
    ],
    "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": "abnormality-of-thyroid-physiology",
        "name": "Abnormal thyroid function",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-thyroid-physiology"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "cardiac-conduction-abnormality",
        "name": "Cardiac conduction abnormality",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-conduction-abnormality"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "male-hypogonadism",
        "name": "Decreased function of male gonad",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/male-hypogonadism"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "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": "elevated-circulating-follicle-stimulating-hormone-level",
        "name": "Elevated circulating follicle stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "premature-ventricular-contraction",
        "name": "Extra heart beat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-ventricular-contraction"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "frontal-balding",
        "name": "Frontal balding",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/frontal-balding"
      },
      {
        "slug": "handgrip-myotonia",
        "name": "Handgrip myotonia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/handgrip-myotonia"
      },
      {
        "slug": "calf-muscle-hypertrophy",
        "name": "Increased size of calf muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy"
      },
      {
        "slug": "insulin-insensitivity",
        "name": "Insulin insensitivity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/insulin-insensitivity"
      },
      {
        "slug": "iridescent-posterior-subcapsular-cataract",
        "name": "Iridescent posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/iridescent-posterior-subcapsular-cataract"
      },
      {
        "slug": "oligozoospermia",
        "name": "Low sperm count",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/oligozoospermia"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "myotonia",
        "name": "Myotonia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myotonia"
      },
      {
        "slug": "neck-flexor-weakness",
        "name": "Neck flexion weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neck-flexor-weakness"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "periventricular-white-matter-hyperintensities",
        "name": "Periventricular white matter hyperintensities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/periventricular-white-matter-hyperintensities"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sternocleidomastoid-amyotrophy",
        "name": "Sternocleidomastoid amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sternocleidomastoid-amyotrophy"
      },
      {
        "slug": "type-2-muscle-fiber-atrophy",
        "name": "Type 2 muscle fiber atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "restless-legs",
        "name": "Willis-Ekbom disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restless-legs"
      }
    ],
    "related": [
      {
        "slug": "dmpk",
        "symbol": "DMPK",
        "name": "DM1 protein kinase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dmpk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}