{
  "url": "https://dantelabs.com/hu/genes/asprv1",
  "gene": {
    "slug": "asprv1",
    "symbol": "ASPRV1",
    "name": "aspartic peptidase retroviral like 1",
    "hgnc": "HGNC:26321",
    "summary": null,
    "location": "2p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "Taps",
      "SASPase",
      "FLJ25084"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000244617",
    "entrezId": 151516,
    "omim": [
      "611765"
    ],
    "uniprot": [
      "Q53RT3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 69960089,
      "end": 69961631,
      "strand": "-",
      "ensemblTranscript": "ENST00000320256.6",
      "refseqTranscript": "NM_152792.4",
      "ensemblProtein": "ENSP00000315383.5",
      "refseqProtein": "NP_690005.3",
      "exons": [
        {
          "start": 69960089,
          "end": 69961631
        }
      ],
      "cds": {
        "start": 69960657,
        "end": 69961436
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 70187226,
      "end": 70189397,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 69460860,
      "end": 70460859,
      "genes": [
        {
          "symbol": "AAK1",
          "ensemblId": "ENSG00000115977",
          "biotype": "protein_coding",
          "start": 69457559,
          "end": 69674349,
          "strand": "-",
          "slug": "aak1"
        },
        {
          "symbol": "ANXA4",
          "ensemblId": "ENSG00000196975",
          "biotype": "protein_coding",
          "start": 69643109,
          "end": 69827121,
          "strand": "+",
          "slug": "anxa4"
        },
        {
          "symbol": "GMCL1",
          "ensemblId": "ENSG00000087338",
          "biotype": "protein_coding",
          "start": 69829612,
          "end": 69881393,
          "strand": "+",
          "slug": "gmcl1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000310604",
          "biotype": "protein_coding",
          "start": 69829739,
          "end": 69829798,
          "strand": "+"
        },
        {
          "symbol": "SNRNP27",
          "ensemblId": "ENSG00000124380",
          "biotype": "protein_coding",
          "start": 69893944,
          "end": 69907658,
          "strand": "+",
          "slug": "snrnp27"
        },
        {
          "symbol": "MXD1",
          "ensemblId": "ENSG00000059728",
          "biotype": "protein_coding",
          "start": 69897688,
          "end": 69942945,
          "strand": "+",
          "slug": "mxd1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000293615",
          "biotype": "protein_coding",
          "start": 69960104,
          "end": 70087320,
          "strand": "-"
        },
        {
          "symbol": "PCBP1",
          "ensemblId": "ENSG00000169564",
          "biotype": "protein_coding",
          "start": 70087477,
          "end": 70089203,
          "strand": "+",
          "slug": "pcbp1"
        },
        {
          "symbol": "C2orf42",
          "ensemblId": "ENSG00000115998",
          "biotype": "protein_coding",
          "start": 70149882,
          "end": 70248615,
          "strand": "-",
          "slug": "c2orf42"
        },
        {
          "symbol": "TIA1",
          "ensemblId": "ENSG00000116001",
          "biotype": "protein_coding",
          "start": 70209444,
          "end": 70248761,
          "strand": "-",
          "slug": "tia1"
        },
        {
          "symbol": "PCYOX1",
          "ensemblId": "ENSG00000116005",
          "biotype": "protein_coding",
          "start": 70257386,
          "end": 70281185,
          "strand": "+",
          "slug": "pcyox1"
        },
        {
          "symbol": "SNRPG",
          "ensemblId": "ENSG00000143977",
          "biotype": "protein_coding",
          "start": 70281204,
          "end": 70293766,
          "strand": "-",
          "slug": "snrpg"
        },
        {
          "symbol": "TIMCC",
          "ensemblId": "ENSG00000035141",
          "biotype": "protein_coding",
          "start": 70295975,
          "end": 70302086,
          "strand": "-",
          "slug": "timcc"
        },
        {
          "symbol": "TGFA",
          "ensemblId": "ENSG00000163235",
          "biotype": "protein_coding",
          "start": 70447284,
          "end": 70554193,
          "strand": "-",
          "slug": "tgfa"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-helix-morphology",
        "name": "Abnormal helix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-helix-morphology"
      },
      {
        "slug": "amniotic-constriction-ring",
        "name": "Amniotic constriction ring",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/amniotic-constriction-ring"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "chronic-irritative-conjunctivitis",
        "name": "Chronic irritative conjunctivitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-irritative-conjunctivitis"
      },
      {
        "slug": "cicatricial-ectropion",
        "name": "Cicatricial ectropion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cicatricial-ectropion"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "congenital-nonbullous-ichthyosiform-erythroderma",
        "name": "Congenital nonbullous ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-perforation",
        "name": "Corneal perforation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corneal-perforation"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "skin-fissure",
        "name": "Cracked skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-fissure"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diminished-health-related-quality-of-life",
        "name": "Diminished health-related quality of life",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-health-related-quality-of-life"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "euryblepharon",
        "name": "Euryblepharon",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/euryblepharon"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "eyebrow-scaling-skin",
        "name": "Eyebrow scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eyebrow-scaling-skin"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "lagophthalmos",
        "name": "Eyelids stay open",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lagophthalmos"
      },
      {
        "slug": "generalized-scaling",
        "name": "Generalized scaling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-scaling"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "limb-joint-contracture",
        "name": "Limb contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-joint-contracture"
      },
      {
        "slug": "loss-of-eyelashes",
        "name": "Loss of eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-eyelashes"
      },
      {
        "slug": "eclabion",
        "name": "Outward turned lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eclabion"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "punctal-stenosis",
        "name": "Punctal stenosis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/punctal-stenosis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "stiff-skin",
        "name": "Stiff skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/stiff-skin"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "lack-of-skin-elasticity",
        "name": "Tight skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lack-of-skin-elasticity"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}