| Variant ID | 19765 |
|---|---|
| Entrez Gene ID | 58189 |
| Gene | WFDC1 (GeneCards) |
| Location | hg19 16:84363502-84363502
hg38 16:84329896-84329896 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.84363502 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.551 |
| CADD Raw score (version 1.3) | -0.75119 (Deleterious) |
| FATHMM raw prediction score | 0.09315 (Tolerated) |
| Deleterious probability by DeFine | 0.6413 (Deleterious) |
| Entrez Gene ID | 58189 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WFDC1 (GeneCards) |
| Number of variants in WFDC1 in this database | 1 (view all the variants) |
| Full name | WAP four-disulfide core domain 1 |
| Band | 16q24.1 |
| Other IDs | Vega: OTTHUMG00000137641 OMIM: 605322 HGNC: HGNC:15466 Ensembl: ENSG00000103175 |
| Other names | PS20 |
| Summary | This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |