| Variant ID | 29559 |
|---|---|
| Entrez Gene ID | 23291 |
| Gene | FBXW11 (GeneCards) |
| Location | hg19 5:171326970-171326970
hg38 5:171899966-171899966 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.171326970 G>A (Genome Assembly: hg19) |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4684070 |
| Variant occurences in COSMIC | 2(large_intestine) |
| EIGEN score | 0.456 |
| CADD Raw score (version 1.3) | 9.813215 (Deleterious) |
| FATHMM raw prediction score | 0.95615 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.865 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.733 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.98 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.481 |
| Deleterious probability by DeFine | 0.8029 (Deleterious) |
| 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 | 28714951.235 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |