| Variant ID | 8664 |
|---|---|
| Entrez Gene ID | 23291 |
| Gene | FBXW11 (GeneCards) |
| Location | hg19 5:171447283-171447283
hg38 5:172020279-172020279 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.171447283 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003228 |
|---|---|
| EIGEN score | -0.2644 |
| CADD Raw score (version 1.3) | -0.020374 (Deleterious) |
| FATHMM raw prediction score | 0.10817 (Tolerated) |
| Deleterious probability by DeFine | 0.0814 (Neutral) |
| Entrez Gene ID | 23291 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXW11 (GeneCards) |
| Number of variants in FBXW11 in this database | 2 (view all the variants) |
| Full name | F-box and WD repeat domain containing 11 |
| Band | 5q35.1 |
| Other IDs | Vega: OTTHUMG00000163267 OMIM: 605651 HGNC: HGNC:13607 Ensembl: ENSG00000072803 |
| Other names | Hos, BTRC2, FBW1B, Fbw11, BTRCP2, FBXW1B |
| Summary | This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |