{
  "url": "https://dantelabs.com/nl/genes/ints11",
  "gene": {
    "slug": "ints11",
    "symbol": "INTS11",
    "name": "integrator complex subunit 11",
    "hgnc": "HGNC:26052",
    "summary": null,
    "location": "1p36.33",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20542",
      "RC-68",
      "CPSF73L",
      "INT11"
    ],
    "previousSymbols": [
      "CPSF3L"
    ],
    "ensemblId": "ENSG00000127054",
    "entrezId": 54973,
    "omim": [
      "611354"
    ],
    "uniprot": [
      "Q5TA45"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 1311600,
      "end": 1324660,
      "strand": "-",
      "ensemblTranscript": "ENST00000435064.6",
      "refseqTranscript": "NM_017871.6",
      "ensemblProtein": "ENSP00000413493.2",
      "refseqProtein": "NP_060341.2",
      "exons": [
        {
          "start": 1311600,
          "end": 1311924
        },
        {
          "start": 1312018,
          "end": 1312147
        },
        {
          "start": 1312226,
          "end": 1312368
        },
        {
          "start": 1312440,
          "end": 1312501
        },
        {
          "start": 1312593,
          "end": 1312700
        },
        {
          "start": 1312787,
          "end": 1312949
        },
        {
          "start": 1313035,
          "end": 1313124
        },
        {
          "start": 1313509,
          "end": 1313592
        },
        {
          "start": 1313732,
          "end": 1313921
        },
        {
          "start": 1314301,
          "end": 1314365
        },
        {
          "start": 1314824,
          "end": 1314962
        },
        {
          "start": 1315404,
          "end": 1315438
        },
        {
          "start": 1315520,
          "end": 1315618
        },
        {
          "start": 1319296,
          "end": 1319524
        },
        {
          "start": 1320456,
          "end": 1320529
        },
        {
          "start": 1320996,
          "end": 1321093
        },
        {
          "start": 1324581,
          "end": 1324660
        }
      ],
      "cds": {
        "start": 1311859,
        "end": 1324608
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 1246965,
      "end": 1260071,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 818130,
      "end": 1818129,
      "genes": [
        {
          "symbol": "SAMD11",
          "ensemblId": "ENSG00000187634",
          "biotype": "protein_coding",
          "start": 923895,
          "end": 944590,
          "strand": "+",
          "slug": "samd11"
        },
        {
          "symbol": "NOC2L",
          "ensemblId": "ENSG00000188976",
          "biotype": "protein_coding",
          "start": 943527,
          "end": 960714,
          "strand": "-",
          "slug": "noc2l"
        },
        {
          "symbol": "KLHL17",
          "ensemblId": "ENSG00000187961",
          "biotype": "protein_coding",
          "start": 960555,
          "end": 965721,
          "strand": "+",
          "slug": "klhl17"
        },
        {
          "symbol": "PLEKHN1",
          "ensemblId": "ENSG00000187583",
          "biotype": "protein_coding",
          "start": 966437,
          "end": 975865,
          "strand": "+",
          "slug": "plekhn1"
        },
        {
          "symbol": "PERM1",
          "ensemblId": "ENSG00000187642",
          "biotype": "protein_coding",
          "start": 975194,
          "end": 982137,
          "strand": "-",
          "slug": "perm1"
        },
        {
          "symbol": "HES4",
          "ensemblId": "ENSG00000188290",
          "biotype": "protein_coding",
          "start": 998962,
          "end": 1000825,
          "strand": "-",
          "slug": "hes4"
        },
        {
          "symbol": "ISG15",
          "ensemblId": "ENSG00000187608",
          "biotype": "protein_coding",
          "start": 1001138,
          "end": 1014540,
          "strand": "+",
          "slug": "isg15"
        },
        {
          "symbol": "AGRN",
          "ensemblId": "ENSG00000188157",
          "biotype": "protein_coding",
          "start": 1020069,
          "end": 1056119,
          "strand": "+",
          "slug": "agrn"
        },
        {
          "symbol": "RNF223",
          "ensemblId": "ENSG00000237330",
          "biotype": "protein_coding",
          "start": 1070967,
          "end": 1074306,
          "strand": "-",
          "slug": "rnf223"
        },
        {
          "symbol": "C1orf159",
          "ensemblId": "ENSG00000131591",
          "biotype": "protein_coding",
          "start": 1081811,
          "end": 1116361,
          "strand": "-",
          "slug": "c1orf159"
        },
        {
          "symbol": "TTLL10",
          "ensemblId": "ENSG00000162571",
          "biotype": "protein_coding",
          "start": 1173880,
          "end": 1197940,
          "strand": "+",
          "slug": "ttll10"
        },
        {
          "symbol": "TNFRSF18",
          "ensemblId": "ENSG00000186891",
          "biotype": "protein_coding",
          "start": 1203508,
          "end": 1206814,
          "strand": "-",
          "slug": "tnfrsf18"
        },
        {
          "symbol": "TNFRSF4",
          "ensemblId": "ENSG00000186827",
          "biotype": "protein_coding",
          "start": 1211326,
          "end": 1214153,
          "strand": "-",
          "slug": "tnfrsf4"
        },
        {
          "symbol": "SDF4",
          "ensemblId": "ENSG00000078808",
          "biotype": "protein_coding",
          "start": 1216887,
          "end": 1240964,
          "strand": "-",
          "slug": "sdf4"
        },
        {
          "symbol": "B3GALT6",
          "ensemblId": "ENSG00000176022",
          "biotype": "protein_coding",
          "start": 1232237,
          "end": 1235041,
          "strand": "+",
          "slug": "b3galt6"
        },
        {
          "symbol": "C1QTNF12",
          "ensemblId": "ENSG00000184163",
          "biotype": "protein_coding",
          "start": 1242446,
          "end": 1246934,
          "strand": "-",
          "slug": "c1qtnf12"
        },
        {
          "symbol": "UBE2J2",
          "ensemblId": "ENSG00000160087",
          "biotype": "protein_coding",
          "start": 1253907,
          "end": 1274477,
          "strand": "-",
          "slug": "ube2j2"
        },
        {
          "symbol": "SCNN1D",
          "ensemblId": "ENSG00000162572",
          "biotype": "protein_coding",
          "start": 1280436,
          "end": 1292029,
          "strand": "+",
          "slug": "scnn1d"
        },
        {
          "symbol": "ACAP3",
          "ensemblId": "ENSG00000131584",
          "biotype": "protein_coding",
          "start": 1292376,
          "end": 1309609,
          "strand": "-",
          "slug": "acap3"
        },
        {
          "symbol": "PUSL1",
          "ensemblId": "ENSG00000169972",
          "biotype": "protein_coding",
          "start": 1308547,
          "end": 1311679,
          "strand": "+",
          "slug": "pusl1"
        },
        {
          "symbol": "CPTP",
          "ensemblId": "ENSG00000224051",
          "biotype": "protein_coding",
          "start": 1324756,
          "end": 1328897,
          "strand": "+",
          "slug": "cptp"
        },
        {
          "symbol": "TAS1R3",
          "ensemblId": "ENSG00000169962",
          "biotype": "protein_coding",
          "start": 1331275,
          "end": 1335314,
          "strand": "+",
          "slug": "tas1r3"
        },
        {
          "symbol": "DVL1",
          "ensemblId": "ENSG00000107404",
          "biotype": "protein_coding",
          "start": 1335275,
          "end": 1349962,
          "strand": "-",
          "slug": "dvl1"
        },
        {
          "symbol": "MXRA8",
          "ensemblId": "ENSG00000162576",
          "biotype": "protein_coding",
          "start": 1352683,
          "end": 1361800,
          "strand": "-",
          "slug": "mxra8"
        },
        {
          "symbol": "AURKAIP1",
          "ensemblId": "ENSG00000175756",
          "biotype": "protein_coding",
          "start": 1373710,
          "end": 1375521,
          "strand": "-",
          "slug": "aurkaip1"
        },
        {
          "symbol": "CCNL2",
          "ensemblId": "ENSG00000221978",
          "biotype": "protein_coding",
          "start": 1385709,
          "end": 1400909,
          "strand": "-",
          "slug": "ccnl2"
        },
        {
          "symbol": "MRPL20",
          "ensemblId": "ENSG00000242485",
          "biotype": "protein_coding",
          "start": 1401907,
          "end": 1407306,
          "strand": "-",
          "slug": "mrpl20"
        },
        {
          "symbol": "ANKRD65",
          "ensemblId": "ENSG00000235098",
          "biotype": "protein_coding",
          "start": 1415637,
          "end": 1421769,
          "strand": "-",
          "slug": "ankrd65"
        },
        {
          "symbol": "TMEM278",
          "ensemblId": "ENSG00000205116",
          "biotype": "protein_coding",
          "start": 1425871,
          "end": 1430255,
          "strand": "+",
          "slug": "tmem278"
        },
        {
          "symbol": "VWA1",
          "ensemblId": "ENSG00000179403",
          "biotype": "protein_coding",
          "start": 1434861,
          "end": 1446012,
          "strand": "+",
          "slug": "vwa1"
        },
        {
          "symbol": "ATAD3C",
          "ensemblId": "ENSG00000215915",
          "biotype": "protein_coding",
          "start": 1449689,
          "end": 1470163,
          "strand": "+",
          "slug": "atad3c"
        },
        {
          "symbol": "ATAD3B",
          "ensemblId": "ENSG00000160072",
          "biotype": "protein_coding",
          "start": 1471742,
          "end": 1497848,
          "strand": "+",
          "slug": "atad3b"
        },
        {
          "symbol": "ATAD3A",
          "ensemblId": "ENSG00000197785",
          "biotype": "protein_coding",
          "start": 1512118,
          "end": 1534689,
          "strand": "+",
          "slug": "atad3a"
        },
        {
          "symbol": "TMEM240",
          "ensemblId": "ENSG00000205090",
          "biotype": "protein_coding",
          "start": 1534778,
          "end": 1540624,
          "strand": "-",
          "slug": "tmem240"
        },
        {
          "symbol": "SSU72",
          "ensemblId": "ENSG00000160075",
          "biotype": "protein_coding",
          "start": 1541673,
          "end": 1574887,
          "strand": "-",
          "slug": "ssu72"
        },
        {
          "symbol": "FNDC10",
          "ensemblId": "ENSG00000228594",
          "biotype": "protein_coding",
          "start": 1598012,
          "end": 1600135,
          "strand": "-",
          "slug": "fndc10"
        },
        {
          "symbol": "MIB2",
          "ensemblId": "ENSG00000197530",
          "biotype": "protein_coding",
          "start": 1615433,
          "end": 1630610,
          "strand": "+",
          "slug": "mib2"
        },
        {
          "symbol": "MMP23B",
          "ensemblId": "ENSG00000189409",
          "biotype": "protein_coding",
          "start": 1631660,
          "end": 1635263,
          "strand": "+",
          "slug": "mmp23b"
        },
        {
          "symbol": "CDK11B",
          "ensemblId": "ENSG00000248333",
          "biotype": "protein_coding",
          "start": 1635225,
          "end": 1659267,
          "strand": "-",
          "slug": "cdk11b"
        },
        {
          "symbol": "SLC35E2B",
          "ensemblId": "ENSG00000189339",
          "biotype": "protein_coding",
          "start": 1659529,
          "end": 1693059,
          "strand": "-",
          "slug": "slc35e2b"
        },
        {
          "symbol": "CDK11A",
          "ensemblId": "ENSG00000008128",
          "biotype": "protein_coding",
          "start": 1702379,
          "end": 1724571,
          "strand": "-",
          "slug": "cdk11a"
        },
        {
          "symbol": "NADK",
          "ensemblId": "ENSG00000008130",
          "biotype": "protein_coding",
          "start": 1751232,
          "end": 1780544,
          "strand": "-",
          "slug": "nadk"
        },
        {
          "symbol": "GNB1",
          "ensemblId": "ENSG00000078369",
          "biotype": "protein_coding",
          "start": 1785285,
          "end": 1892292,
          "strand": "-",
          "slug": "gnb1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "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": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "narrow-palate",
        "name": "Narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-palate"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pontocerebellar-atrophy",
        "name": "Pontocerebellar atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pontocerebellar-atrophy"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-glabella",
        "name": "Prominent area between the eyebrows",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-glabella"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "small-forehead",
        "name": "Small forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-forehead"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}