{
  "url": "https://dantelabs.com/da/genes/gnpnat1",
  "gene": {
    "slug": "gnpnat1",
    "symbol": "GNPNAT1",
    "name": "glucosamine-phosphate N-acetyltransferase 1",
    "hgnc": "HGNC:19980",
    "summary": null,
    "location": "14q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "Gpnat1",
      "FLJ10607"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000100522",
    "entrezId": 64841,
    "omim": [
      "616510"
    ],
    "uniprot": [
      "Q96EK6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 52775193,
      "end": 52791607,
      "strand": "-",
      "ensemblTranscript": "ENST00000216410.8",
      "refseqTranscript": "NM_198066.4",
      "ensemblProtein": "ENSP00000216410.3",
      "refseqProtein": "NP_932332.1",
      "exons": [
        {
          "start": 52775193,
          "end": 52778458
        },
        {
          "start": 52780679,
          "end": 52780740
        },
        {
          "start": 52781784,
          "end": 52781911
        },
        {
          "start": 52783423,
          "end": 52783485
        },
        {
          "start": 52784497,
          "end": 52784664
        },
        {
          "start": 52791428,
          "end": 52791607
        }
      ],
      "cds": {
        "start": 52778311,
        "end": 52784650
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 53241912,
      "end": 53258386,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 52283400,
      "end": 53283399,
      "genes": [
        {
          "symbol": "PTGER2",
          "ensemblId": "ENSG00000125384",
          "biotype": "protein_coding",
          "start": 52314226,
          "end": 52329822,
          "strand": "+",
          "slug": "ptger2"
        },
        {
          "symbol": "TXNDC16",
          "ensemblId": "ENSG00000087301",
          "biotype": "protein_coding",
          "start": 52429472,
          "end": 52553563,
          "strand": "-",
          "slug": "txndc16"
        },
        {
          "symbol": "GPR137C",
          "ensemblId": "ENSG00000180998",
          "biotype": "protein_coding",
          "start": 52552823,
          "end": 52637713,
          "strand": "+",
          "slug": "gpr137c"
        },
        {
          "symbol": "ERO1A",
          "ensemblId": "ENSG00000197930",
          "biotype": "protein_coding",
          "start": 52639915,
          "end": 52696025,
          "strand": "-",
          "slug": "ero1a"
        },
        {
          "symbol": "PSMC6",
          "ensemblId": "ENSG00000100519",
          "biotype": "protein_coding",
          "start": 52707156,
          "end": 52728605,
          "strand": "+",
          "slug": "psmc6"
        },
        {
          "symbol": "STYX",
          "ensemblId": "ENSG00000198252",
          "biotype": "protein_coding",
          "start": 52730043,
          "end": 52775008,
          "strand": "+",
          "slug": "styx"
        },
        {
          "symbol": "FERMT2",
          "ensemblId": "ENSG00000073712",
          "biotype": "protein_coding",
          "start": 52856943,
          "end": 52952435,
          "strand": "-",
          "slug": "fermt2"
        },
        {
          "symbol": "DDHD1",
          "ensemblId": "ENSG00000100523",
          "biotype": "protein_coding",
          "start": 53036745,
          "end": 53153353,
          "strand": "-",
          "slug": "ddhd1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "aplasia-of-the-femoral-head",
        "name": "Aplasia of the femoral head",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-of-the-femoral-head"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "bowed-forearm-bones",
        "name": "Bowed forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowed-forearm-bones"
      },
      {
        "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": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "contracture-of-the-proximal-interphalangeal-joint-of-the-5th-finger",
        "name": "Contracture of the proximal interphalangeal joint of the 5th finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/contracture-of-the-proximal-interphalangeal-joint-of-the-5th-finger"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "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": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "enlarged-joints",
        "name": "Enlarged joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-joints"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "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": "flaring-of-rib-cage",
        "name": "Flaring of rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flaring-of-rib-cage"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "distal-humeral-metaphyseal-irregularity",
        "name": "Irregular wide portion of elbow bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-humeral-metaphyseal-irregularity"
      },
      {
        "slug": "large-hands",
        "name": "Large hands",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-hands"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "long-foot",
        "name": "Long foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-foot"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "posterior-scalloping-of-vertebral-bodies",
        "name": "Posterior scalloping of vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posterior-scalloping-of-vertebral-bodies"
      },
      {
        "slug": "proximal-humeral-metaphyseal-irregularity",
        "name": "Proximal humeral metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-humeral-metaphyseal-irregularity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "short-humerus",
        "name": "Short humerus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-humerus"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "squared-iliac-bones",
        "name": "Squared iliac bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/squared-iliac-bones"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "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": []
  }
}