{
  "url": "https://dantelabs.com/sv/genes/colec11",
  "gene": {
    "slug": "colec11",
    "symbol": "COLEC11",
    "name": "collectin subfamily member 11",
    "hgnc": "HGNC:17213",
    "summary": null,
    "location": "2p25.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC3279",
      "CL-K1",
      "CL-11"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000118004",
    "entrezId": 78989,
    "omim": [
      "612502"
    ],
    "uniprot": [
      "Q9BWP8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 3595112,
      "end": 3644644,
      "strand": "+",
      "ensemblTranscript": "ENST00000349077.9",
      "refseqTranscript": "NM_024027.5",
      "ensemblProtein": "ENSP00000339168.4",
      "refseqProtein": "NP_076932.1",
      "exons": [
        {
          "start": 3595112,
          "end": 3595168
        },
        {
          "start": 3604315,
          "end": 3604470
        },
        {
          "start": 3613311,
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        },
        {
          "start": 3637533,
          "end": 3637604
        },
        {
          "start": 3640278,
          "end": 3640331
        },
        {
          "start": 3643444,
          "end": 3643539
        },
        {
          "start": 3643727,
          "end": 3644644
        }
      ],
      "cds": {
        "start": 3604341,
        "end": 3644118
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 3642426,
      "end": 3692048,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 3119878,
      "end": 4119877,
      "genes": [
        {
          "symbol": "EIPR1",
          "ensemblId": "ENSG00000032389",
          "biotype": "protein_coding",
          "start": 3188255,
          "end": 3377879,
          "strand": "-",
          "slug": "eipr1"
        },
        {
          "symbol": "TRAPPC12",
          "ensemblId": "ENSG00000171853",
          "biotype": "protein_coding",
          "start": 3379669,
          "end": 3485094,
          "strand": "+",
          "slug": "trappc12"
        },
        {
          "symbol": "ADI1",
          "ensemblId": "ENSG00000182551",
          "biotype": "protein_coding",
          "start": 3496380,
          "end": 3519584,
          "strand": "-",
          "slug": "adi1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286905",
          "biotype": "protein_coding",
          "start": 3532008,
          "end": 3558333,
          "strand": "-"
        },
        {
          "symbol": "RNASEH1",
          "ensemblId": "ENSG00000171865",
          "biotype": "protein_coding",
          "start": 3541430,
          "end": 3558371,
          "strand": "-",
          "slug": "rnaseh1"
        },
        {
          "symbol": "RPS7",
          "ensemblId": "ENSG00000171863",
          "biotype": "protein_coding",
          "start": 3575198,
          "end": 3580952,
          "strand": "+",
          "slug": "rps7"
        },
        {
          "symbol": "ALLC",
          "ensemblId": "ENSG00000151360",
          "biotype": "protein_coding",
          "start": 3658200,
          "end": 3702671,
          "strand": "+",
          "slug": "allc"
        },
        {
          "symbol": "DCDC2C",
          "ensemblId": "ENSG00000214866",
          "biotype": "protein_coding",
          "start": 3703575,
          "end": 3848008,
          "strand": "+",
          "slug": "dcdc2c"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-anterior-chamber-morphology",
        "name": "Abnormal anterior chamber morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-anterior-chamber-morphology"
      },
      {
        "slug": "abnormal-nasal-morphology",
        "name": "Abnormal of nasal shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nasal-morphology"
      },
      {
        "slug": "abnormal-vertebral-morphology",
        "name": "Abnormal vertebral morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology"
      },
      {
        "slug": "abnormality-of-the-vertebral-column",
        "name": "Abnormality of the vertebral column",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "supernumerary-nipple",
        "name": "Accessory nipple",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/supernumerary-nipple"
      },
      {
        "slug": "prominence-of-the-premaxilla",
        "name": "Anterior position of the premaxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/prominence-of-the-premaxilla"
      },
      {
        "slug": "bilateral-cryptorchidism",
        "name": "Bilateral cryptorchidism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-cryptorchidism"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "broad-philtrum",
        "name": "Broad philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-philtrum"
      },
      {
        "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": "cleft-upper-lip",
        "name": "Cleft upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-upper-lip"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "depressed-nasal-tip",
        "name": "Depressed nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-tip"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downturned-corners-of-mouth",
        "name": "Downturned corners of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downturned-corners-of-mouth"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "epicanthus-inversus",
        "name": "Epicanthus inversus",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus-inversus"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "diastasis-recti",
        "name": "Gap between large left and right abdominal muscles",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diastasis-recti"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "caudal-appendage",
        "name": "Human tail",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/caudal-appendage"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "large-fleshy-ears",
        "name": "Large fleshy ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-fleshy-ears"
      },
      {
        "slug": "limited-elbow-movement",
        "name": "Limited elbow movement",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-elbow-movement"
      },
      {
        "slug": "limited-pronation-supination-of-forearm",
        "name": "Limited pronation/supination of forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limited-pronation-supination-of-forearm"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "blepharophimosis",
        "name": "Narrow opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharophimosis"
      },
      {
        "slug": "partial-abdominal-muscle-agenesis",
        "name": "Partial abdominal muscle agenesis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/partial-abdominal-muscle-agenesis"
      },
      {
        "slug": "hypoplasia-of-the-musculature",
        "name": "Poorly developed skeletal musculature",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-musculature"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "prominent-coccyx",
        "name": "Prominent tailbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-coccyx"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "skull-asymmetry",
        "name": "Skull asymmetry",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skull-asymmetry"
      },
      {
        "slug": "spina-bifida-occulta",
        "name": "Spina bifida occulta",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spina-bifida-occulta"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}