{
  "url": "https://dantelabs.com/cs/genes/padi6",
  "gene": {
    "slug": "padi6",
    "symbol": "PADI6",
    "name": "peptidyl arginine deiminase 6",
    "hgnc": "HGNC:20449",
    "summary": null,
    "location": "1p36.13",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000276747",
    "entrezId": 353238,
    "omim": [
      "610363"
    ],
    "uniprot": [
      "Q6TGC4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 17372196,
      "end": 17401699,
      "strand": "+",
      "ensemblTranscript": "ENST00000619609.1",
      "refseqTranscript": "NM_207421.4",
      "ensemblProtein": "ENSP00000483125.1",
      "refseqProtein": "NP_997304.3",
      "exons": [
        {
          "start": 17372196,
          "end": 17372361
        },
        {
          "start": 17373056,
          "end": 17373233
        },
        {
          "start": 17375427,
          "end": 17375499
        },
        {
          "start": 17379920,
          "end": 17379987
        },
        {
          "start": 17381047,
          "end": 17381164
        },
        {
          "start": 17381967,
          "end": 17382092
        },
        {
          "start": 17388381,
          "end": 17388559
        },
        {
          "start": 17388777,
          "end": 17388880
        },
        {
          "start": 17392114,
          "end": 17392225
        },
        {
          "start": 17393975,
          "end": 17394082
        },
        {
          "start": 17394300,
          "end": 17394454
        },
        {
          "start": 17394951,
          "end": 17395107
        },
        {
          "start": 17395540,
          "end": 17395663
        },
        {
          "start": 17397071,
          "end": 17397141
        },
        {
          "start": 17398686,
          "end": 17398847
        },
        {
          "start": 17401205,
          "end": 17401699
        }
      ],
      "cds": {
        "start": 17372246,
        "end": 17401438
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 17698691,
      "end": 17728195,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 16886948,
      "end": 17886947,
      "genes": [
        {
          "symbol": "CROCC",
          "ensemblId": "ENSG00000058453",
          "biotype": "protein_coding",
          "start": 16740273,
          "end": 16972964,
          "strand": "+",
          "slug": "crocc"
        },
        {
          "symbol": "MFAP2",
          "ensemblId": "ENSG00000117122",
          "biotype": "protein_coding",
          "start": 16972933,
          "end": 16981616,
          "strand": "-",
          "slug": "mfap2"
        },
        {
          "symbol": "ATP13A2",
          "ensemblId": "ENSG00000159363",
          "biotype": "protein_coding",
          "start": 16985958,
          "end": 17011986,
          "strand": "-",
          "slug": "atp13a2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288636",
          "biotype": "protein_coding",
          "start": 17005068,
          "end": 17011757,
          "strand": "-"
        },
        {
          "symbol": "SDHB",
          "ensemblId": "ENSG00000117118",
          "biotype": "protein_coding",
          "start": 17018664,
          "end": 17054210,
          "strand": "-",
          "slug": "sdhb"
        },
        {
          "symbol": "PADI2",
          "ensemblId": "ENSG00000117115",
          "biotype": "protein_coding",
          "start": 17066761,
          "end": 17119459,
          "strand": "-",
          "slug": "padi2"
        },
        {
          "symbol": "PADI1",
          "ensemblId": "ENSG00000142623",
          "biotype": "protein_coding",
          "start": 17205120,
          "end": 17246007,
          "strand": "+",
          "slug": "padi1"
        },
        {
          "symbol": "PADI3",
          "ensemblId": "ENSG00000142619",
          "biotype": "protein_coding",
          "start": 17249093,
          "end": 17284233,
          "strand": "+",
          "slug": "padi3"
        },
        {
          "symbol": "PADI4",
          "ensemblId": "ENSG00000159339",
          "biotype": "protein_coding",
          "start": 17308195,
          "end": 17364004,
          "strand": "+",
          "slug": "padi4"
        },
        {
          "symbol": "RCC2",
          "ensemblId": "ENSG00000179051",
          "biotype": "protein_coding",
          "start": 17406755,
          "end": 17439992,
          "strand": "-",
          "slug": "rcc2"
        },
        {
          "symbol": "ARHGEF10L",
          "ensemblId": "ENSG00000074964",
          "biotype": "protein_coding",
          "start": 17539368,
          "end": 17697876,
          "strand": "+",
          "slug": "arhgef10l"
        },
        {
          "symbol": "ACTL8",
          "ensemblId": "ENSG00000117148",
          "biotype": "protein_coding",
          "start": 17755310,
          "end": 17827063,
          "strand": "+",
          "slug": "actl8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "female-infertility",
        "name": "Female Infertility",
        "diseases": [
          {
            "mondoId": "MONDO:0014769",
            "name": "inherited oocyte maturation defect",
            "genes": 17,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/female-infertility"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-meiosis",
        "name": "Abnormal meiosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-meiosis"
      },
      {
        "slug": "abnormal-oocyte-morphology",
        "name": "Abnormal oocyte morphology",
        "systems": [
          "abnormal-cellular-phenotype"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-oocyte-morphology"
      },
      {
        "slug": "abnormal-spermatogenesis",
        "name": "Abnormal sperm development",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-spermatogenesis"
      },
      {
        "slug": "female-infertility",
        "name": "Female infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/female-infertility"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "metaphase-i-oocyte-maturation-arrest",
        "name": "Metaphase I oocyte maturation arrest",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metaphase-i-oocyte-maturation-arrest"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "preimplantation-lethality",
        "name": "Preimplantation lethality",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/preimplantation-lethality"
      }
    ],
    "related": [
      {
        "slug": "btg4",
        "symbol": "BTG4",
        "name": "BTG anti-proliferation factor 4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/btg4"
      },
      {
        "slug": "cdc20",
        "symbol": "CDC20",
        "name": "cell division cycle 20",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cdc20"
      },
      {
        "slug": "kpna7",
        "symbol": "KPNA7",
        "name": "karyopherin subunit alpha 7",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/kpna7"
      },
      {
        "slug": "mos",
        "symbol": "MOS",
        "name": "MOS proto-oncogene, serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/mos"
      },
      {
        "slug": "nlrp2",
        "symbol": "NLRP2",
        "name": "NLR family pyrin domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/nlrp2"
      },
      {
        "slug": "nlrp5",
        "symbol": "NLRP5",
        "name": "NLR family pyrin domain containing 5",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/nlrp5"
      },
      {
        "slug": "panx1",
        "symbol": "PANX1",
        "name": "pannexin 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/panx1"
      },
      {
        "slug": "patl2",
        "symbol": "PATL2",
        "name": "PAT1 homolog 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/patl2"
      },
      {
        "slug": "rec114",
        "symbol": "REC114",
        "name": "REC114 meiotic recombination protein",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/rec114"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "name": "thyroid hormone receptor interactor 13",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/trip13"
      },
      {
        "slug": "tuba4a",
        "symbol": "TUBA4A",
        "name": "tubulin alpha 4a",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/tuba4a"
      },
      {
        "slug": "tubb8",
        "symbol": "TUBB8",
        "name": "tubulin beta 8 class VIII",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/tubb8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}