| Variant ID | 29828 |
|---|---|
| Entrez Gene ID | 54461 |
| Gene | FBXW5 (GeneCards) |
| Location | hg19 9:139835997-139835997
hg38 9:136941545-136941545 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000009.11:g.139835997 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1718851 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 1.4324 |
| CADD Raw score (version 1.3) | 1.184855 (Deleterious) |
| FATHMM raw prediction score | 0.16668 (Tolerated) |
| Deleterious probability by DeFine | 0.9323 (Deleterious) |
| Entrez Gene ID | 54461 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXW5 (GeneCards) |
| Number of variants in FBXW5 in this database | 1 (view all the variants) |
| Full name | F-box and WD repeat domain containing 5 |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000020967 OMIM: 609072 HGNC: HGNC:13613 Ensembl: ENSG00000159069 |
| Other names | Fbw5 |
| Summary | This gene encodes a member of the F-box protein family, members of which are 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 three 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 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.84 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |