| Variant ID | 19367 |
|---|---|
| Entrez Gene ID | 51741 |
| Gene | WWOX (GeneCards) |
| Location | hg19 16:78845812-78845812
hg38 16:78811915-78811915 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.78845812 C>G (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 | -0.0232 |
| CADD Raw score (version 1.3) | 0.091391 (Deleterious) |
| FATHMM raw prediction score | 0.12916 (Tolerated) |
| Deleterious probability by DeFine | 0.4203 (Neutral) |
| Entrez Gene ID | 51741 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WWOX (GeneCards) |
| Number of variants in WWOX in this database | 21 (view all the variants) |
| Full name | WW domain containing oxidoreductase |
| Band | 16q23.1-q23.2 |
| Other IDs | Vega: OTTHUMG00000176851 OMIM: 605131 HGNC: HGNC:12799 Ensembl: ENSG00000186153 |
| Other names | FOR, WOX1, EIEE28, FRA16D, SCAR12, HHCMA56, PRO0128, SDR41C1, D16S432E |
| Summary | This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |