| Variant ID | 12626 |
|---|---|
| Entrez Gene ID | 11059 |
| Gene | WWP1 (GeneCards) |
| Location | hg19 8:87403497-87403497
hg38 8:86391268-86391268 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.87403497 C>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1449 |
| CADD Raw score (version 1.3) | 0.274462 (Deleterious) |
| FATHMM raw prediction score | 0.06504 (Tolerated) |
| Deleterious probability by DeFine | 0.2785 (Neutral) |
| Entrez Gene ID | 11059 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WWP1 (GeneCards) |
| Number of variants in WWP1 in this database | 2 (view all the variants) |
| Full name | WW domain containing E3 ubiquitin protein ligase 1 |
| Band | 8q21.3 |
| Other IDs | Vega: OTTHUMG00000163690 OMIM: 602307 HGNC: HGNC:17004 Ensembl: ENSG00000123124 |
| Other names | AIP5, Til1, hSDRP1 |
| Summary | WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |