{
  "url": "https://dantelabs.com/el/genes/ube2l3",
  "gene": {
    "slug": "ube2l3",
    "symbol": "UBE2L3",
    "name": "ubiquitin conjugating enzyme E2 L3",
    "hgnc": "HGNC:12488",
    "summary": null,
    "location": "22q11.21",
    "locusType": "gene with protein product",
    "aliases": [
      "UBCH7"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000185651",
    "entrezId": 7332,
    "omim": [
      "603721"
    ],
    "uniprot": [
      "P68036"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 21567714,
      "end": 21624034,
      "strand": "+",
      "ensemblTranscript": "ENST00000342192.9",
      "refseqTranscript": "NM_003347.4",
      "ensemblProtein": "ENSP00000344259.5",
      "refseqProtein": "NP_003338.1",
      "exons": [
        {
          "start": 21567714,
          "end": 21567771
        },
        {
          "start": 21592861,
          "end": 21592956
        },
        {
          "start": 21610857,
          "end": 21611043
        },
        {
          "start": 21621515,
          "end": 21624034
        }
      ],
      "cds": {
        "start": 21567745,
        "end": 21621669
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 21903736,
      "end": 21978323,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 21095874,
      "end": 22095873,
      "genes": [
        {
          "symbol": "FAM246A",
          "ensemblId": "ENSG00000286102",
          "biotype": "protein_coding",
          "start": 21360601,
          "end": 21361299,
          "strand": "-",
          "slug": "fam246a"
        },
        {
          "symbol": "RIMBP3B",
          "ensemblId": "ENSG00000274600",
          "biotype": "protein_coding",
          "start": 21383751,
          "end": 21389478,
          "strand": "+",
          "slug": "rimbp3b"
        },
        {
          "symbol": "HIC2",
          "ensemblId": "ENSG00000169635",
          "biotype": "protein_coding",
          "start": 21416504,
          "end": 21451463,
          "strand": "+",
          "slug": "hic2"
        },
        {
          "symbol": "TMEM191C",
          "ensemblId": "ENSG00000206140",
          "biotype": "protein_coding",
          "start": 21466423,
          "end": 21471269,
          "strand": "+",
          "slug": "tmem191c"
        },
        {
          "symbol": "RIMBP3C",
          "ensemblId": "ENSG00000183246",
          "biotype": "protein_coding",
          "start": 21545666,
          "end": 21551461,
          "strand": "-",
          "slug": "rimbp3c"
        },
        {
          "symbol": "YDJC",
          "ensemblId": "ENSG00000161179",
          "biotype": "protein_coding",
          "start": 21628089,
          "end": 21630070,
          "strand": "-",
          "slug": "ydjc"
        },
        {
          "symbol": "CCDC116",
          "ensemblId": "ENSG00000161180",
          "biotype": "protein_coding",
          "start": 21632716,
          "end": 21637329,
          "strand": "+",
          "slug": "ccdc116"
        },
        {
          "symbol": "SDF2L1",
          "ensemblId": "ENSG00000128228",
          "biotype": "protein_coding",
          "start": 21642261,
          "end": 21644299,
          "strand": "+",
          "slug": "sdf2l1"
        },
        {
          "symbol": "PPIL2",
          "ensemblId": "ENSG00000100023",
          "biotype": "protein_coding",
          "start": 21666000,
          "end": 21700015,
          "strand": "+",
          "slug": "ppil2"
        },
        {
          "symbol": "YPEL1",
          "ensemblId": "ENSG00000100027",
          "biotype": "protein_coding",
          "start": 21697536,
          "end": 21735838,
          "strand": "-",
          "slug": "ypel1"
        },
        {
          "symbol": "MAPK1",
          "ensemblId": "ENSG00000100030",
          "biotype": "protein_coding",
          "start": 21755537,
          "end": 21867680,
          "strand": "-",
          "slug": "mapk1"
        },
        {
          "symbol": "PPM1F",
          "ensemblId": "ENSG00000100034",
          "biotype": "protein_coding",
          "start": 21903644,
          "end": 21952865,
          "strand": "-",
          "slug": "ppm1f"
        },
        {
          "symbol": "TOP3B",
          "ensemblId": "ENSG00000100038",
          "biotype": "protein_coding",
          "start": 21957025,
          "end": 21982818,
          "strand": "-",
          "slug": "top3b"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pigmentation-of-the-oral-mucosa",
        "name": "Abnormal color of the oral mucosa",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pigmentation-of-the-oral-mucosa"
      },
      {
        "slug": "abnormality-of-salivation",
        "name": "Abnormality of salivation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-salivation"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "anti-complement-component-c1q-antibody-positivity",
        "name": "Anti-complement component C1q antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-complement-component-c1q-antibody-positivity"
      },
      {
        "slug": "anti-dsdna-antibody-positivity",
        "name": "Anti-dsDNA antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-dsdna-antibody-positivity"
      },
      {
        "slug": "anti-la-ss-b-antibody-positivity",
        "name": "Anti-La/SS-B antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-la-ss-b-antibody-positivity"
      },
      {
        "slug": "anti-nucleoporin-62-antibody-positivity",
        "name": "Anti-nucleoporin 62 antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-nucleoporin-62-antibody-positivity"
      },
      {
        "slug": "anti-phosphatidic-acid-antibody-positivity",
        "name": "Anti-phosphatidic acid antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-phosphatidic-acid-antibody-positivity"
      },
      {
        "slug": "anti-ribosome-po-antibody-positivity",
        "name": "Anti-ribosome Po antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-ribosome-po-antibody-positivity"
      },
      {
        "slug": "anti-ro52-trim21-antibody-positivity",
        "name": "Anti-Ro52/TRIM21 antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-ro52-trim21-antibody-positivity"
      },
      {
        "slug": "anti-sm-antibody-positivity",
        "name": "Anti-Sm antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-sm-antibody-positivity"
      },
      {
        "slug": "anti-titin-antibody-positivity",
        "name": "Anti-titin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-titin-antibody-positivity"
      },
      {
        "slug": "anti-u1-ribonucleoprotein-antibody-positivity",
        "name": "Anti-U1 ribonucleoprotein antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anti-u1-ribonucleoprotein-antibody-positivity"
      },
      {
        "slug": "antineutrophil-antibody-positivity",
        "name": "Antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antineutrophil-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-circulating-complement-c3-concentration",
        "name": "Decreased circulating complement C3 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-complement-c3-concentration"
      },
      {
        "slug": "decreased-circulating-complement-c4-concentration",
        "name": "Decreased circulating complement C4 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-complement-c4-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "discoid-lupus-rash",
        "name": "Discoid lupus rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/discoid-lupus-rash"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "pyuria",
        "name": "High urine neutrophil count",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pyuria"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "cheilitis",
        "name": "Inflammation of the lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cheilitis"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "lupus-nephritis",
        "name": "Lupus nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lupus-nephritis"
      },
      {
        "slug": "malaise",
        "name": "Malaise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malaise"
      },
      {
        "slug": "malar-rash",
        "name": "Malar rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-rash"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "polyarticular-arthritis",
        "name": "Polyarticular arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyarticular-arthritis"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "serositis",
        "name": "Serositis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/serositis"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}