{
  "url": "https://dantelabs.com/lt/genes/cobll1",
  "gene": {
    "slug": "cobll1",
    "symbol": "COBLL1",
    "name": "cordon-bleu WH2 repeat protein like 1",
    "hgnc": "HGNC:23571",
    "summary": null,
    "location": "2q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA0977"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000082438",
    "entrezId": 22837,
    "omim": [
      "610318"
    ],
    "uniprot": [
      "Q53SF7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 164680188,
      "end": 164841823,
      "strand": "-",
      "ensemblTranscript": "ENST00000652658.2",
      "refseqTranscript": "NM_001365672.2",
      "ensemblProtein": "ENSP00000498242.1",
      "refseqProtein": "NP_001352601.1",
      "exons": [
        {
          "start": 164680188,
          "end": 164686032
        },
        {
          "start": 164692221,
          "end": 164692397
        },
        {
          "start": 164694269,
          "end": 164695836
        },
        {
          "start": 164699405,
          "end": 164699499
        },
        {
          "start": 164700522,
          "end": 164700756
        },
        {
          "start": 164704444,
          "end": 164704518
        },
        {
          "start": 164704952,
          "end": 164705105
        },
        {
          "start": 164722075,
          "end": 164722311
        },
        {
          "start": 164722425,
          "end": 164722522
        },
        {
          "start": 164727969,
          "end": 164728197
        },
        {
          "start": 164729914,
          "end": 164730115
        },
        {
          "start": 164743687,
          "end": 164743875
        },
        {
          "start": 164841156,
          "end": 164841246
        },
        {
          "start": 164841710,
          "end": 164841823
        }
      ],
      "cds": {
        "start": 164685946,
        "end": 164841196
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 165510134,
      "end": 165700189,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 164261006,
      "end": 165261005,
      "genes": [
        {
          "symbol": "GRB14",
          "ensemblId": "ENSG00000115290",
          "biotype": "protein_coding",
          "start": 164491247,
          "end": 164622472,
          "strand": "-",
          "slug": "grb14"
        },
        {
          "symbol": "SLC38A11",
          "ensemblId": "ENSG00000169507",
          "biotype": "protein_coding",
          "start": 164894354,
          "end": 164955632,
          "strand": "-",
          "slug": "slc38a11"
        },
        {
          "symbol": "SCN3A",
          "ensemblId": "ENSG00000153253",
          "biotype": "protein_coding",
          "start": 165087516,
          "end": 165204093,
          "strand": "-",
          "slug": "scn3a"
        },
        {
          "symbol": "SCN2A",
          "ensemblId": "ENSG00000136531",
          "biotype": "protein_coding",
          "start": 165194993,
          "end": 165392310,
          "strand": "+",
          "slug": "scn2a"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-number-of-permanent-teeth",
        "name": "Abnormal number of permanent teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-number-of-permanent-teeth"
      },
      {
        "slug": "abnormality-of-dental-eruption",
        "name": "Abnormality of tooth eruption",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-dental-eruption"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "palate-fistula",
        "name": "Hole in roof of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palate-fistula"
      },
      {
        "slug": "malnutrition",
        "name": "Malnutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malnutrition"
      },
      {
        "slug": "agenesis-of-lateral-incisor",
        "name": "Missing lateral incisor",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-lateral-incisor"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "unilateral-cleft-palate",
        "name": "One sided cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-cleft-palate"
      },
      {
        "slug": "oral-pharyngeal-dysphagia",
        "name": "Oral-pharyngeal dysphagia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-pharyngeal-dysphagia"
      },
      {
        "slug": "peg-shaped-maxillary-lateral-incisors",
        "name": "Peg-shaped maxillary lateral incisors",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peg-shaped-maxillary-lateral-incisors"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "bilateral-cleft-palate",
        "name": "Right and left cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-cleft-palate"
      },
      {
        "slug": "speech-articulation-difficulties",
        "name": "Speech articulation difficulties",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/speech-articulation-difficulties"
      },
      {
        "slug": "velopharyngeal-insufficiency",
        "name": "Velopharyngeal incompetence",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/velopharyngeal-insufficiency"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}