{
  "url": "https://dantelabs.com/genes/gins3",
  "gene": {
    "slug": "gins3",
    "symbol": "GINS3",
    "name": "GINS complex subunit 3",
    "hgnc": "HGNC:25851",
    "summary": null,
    "location": "16q21",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ13912",
      "PSF3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000181938",
    "entrezId": 64785,
    "omim": [
      "610610"
    ],
    "uniprot": [
      "Q9BRX5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 58392471,
      "end": 58406147,
      "strand": "+",
      "ensemblTranscript": "ENST00000318129.6",
      "refseqTranscript": "NM_022770.4",
      "ensemblProtein": "ENSP00000318196.6",
      "refseqProtein": "NP_073607.2",
      "exons": [
        {
          "start": 58392471,
          "end": 58392787
        },
        {
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      ],
      "cds": {
        "start": 58392602,
        "end": 58404729
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
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      "end": 58440048,
      "strand": "+"
    },
    "neighbourhood": {
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      "end": 58899308,
      "genes": [
        {
          "symbol": "CNGB1",
          "ensemblId": "ENSG00000070729",
          "biotype": "protein_coding",
          "start": 57881892,
          "end": 57971128,
          "strand": "-",
          "slug": "cngb1"
        },
        {
          "symbol": "SPMIP8",
          "ensemblId": "ENSG00000159648",
          "biotype": "protein_coding",
          "start": 57976435,
          "end": 57988116,
          "strand": "+",
          "slug": "spmip8"
        },
        {
          "symbol": "ZNF319",
          "ensemblId": "ENSG00000166188",
          "biotype": "protein_coding",
          "start": 57994673,
          "end": 58000718,
          "strand": "-",
          "slug": "znf319"
        },
        {
          "symbol": "USB1",
          "ensemblId": "ENSG00000103005",
          "biotype": "protein_coding",
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          "end": 58021618,
          "strand": "+",
          "slug": "usb1"
        },
        {
          "symbol": "MMP15",
          "ensemblId": "ENSG00000102996",
          "biotype": "protein_coding",
          "start": 58025555,
          "end": 58046901,
          "strand": "+",
          "slug": "mmp15"
        },
        {
          "symbol": "CFAP20",
          "ensemblId": "ENSG00000070761",
          "biotype": "protein_coding",
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          "end": 58129429,
          "strand": "-",
          "slug": "cfap20"
        },
        {
          "symbol": "CSNK2A2",
          "ensemblId": "ENSG00000070770",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "csnk2a2"
        },
        {
          "symbol": "CFAP263",
          "ensemblId": "ENSG00000103021",
          "biotype": "protein_coding",
          "start": 58231157,
          "end": 58283836,
          "strand": "+",
          "slug": "cfap263"
        },
        {
          "symbol": "PRSS54",
          "ensemblId": "ENSG00000103023",
          "biotype": "protein_coding",
          "start": 58279997,
          "end": 58295047,
          "strand": "-",
          "slug": "prss54"
        },
        {
          "symbol": "NDRG4",
          "ensemblId": "ENSG00000103034",
          "biotype": "protein_coding",
          "start": 58462846,
          "end": 58513628,
          "strand": "+",
          "slug": "ndrg4"
        },
        {
          "symbol": "SETD6",
          "ensemblId": "ENSG00000103037",
          "biotype": "protein_coding",
          "start": 58515479,
          "end": 58523842,
          "strand": "+",
          "slug": "setd6"
        },
        {
          "symbol": "CNOT1",
          "ensemblId": "ENSG00000125107",
          "biotype": "protein_coding",
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          "end": 58629885,
          "strand": "-",
          "slug": "cnot1"
        },
        {
          "symbol": "SLC38A7",
          "ensemblId": "ENSG00000103042",
          "biotype": "protein_coding",
          "start": 58663015,
          "end": 58684770,
          "strand": "-",
          "slug": "slc38a7"
        },
        {
          "symbol": "GOT2",
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          "biotype": "protein_coding",
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          "end": 58734366,
          "strand": "-",
          "slug": "got2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "patellar-aplasia",
        "name": "Absent kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patellar-aplasia"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "wide-distal-femoral-metaphysis",
        "name": "Broad outermost wide portion of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-distal-femoral-metaphysis"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-cranial-suture-closure",
        "name": "Delayed cranial suture closure",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cranial-suture-closure"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "hyperconvex-nail",
        "name": "Increased nail curvature",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperconvex-nail"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-nose",
        "name": "Long nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-nose"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "atelectasis",
        "name": "Partial or complete collapse of part or entire lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atelectasis"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "primary-microcephaly",
        "name": "Small head present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primary-microcephaly"
      },
      {
        "slug": "small-scrotum",
        "name": "Smaller than typical growth of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-scrotum"
      },
      {
        "slug": "subcortical-white-matter-calcifications",
        "name": "Subcortical white matter calcifications",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcortical-white-matter-calcifications"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}