| Variant ID | 29204 |
|---|---|
| Entrez Gene ID | 26271 |
| Gene | FBXO5 (GeneCards) |
| Location | hg19 6:153295985-153295985
hg38 6:152974850-152974850 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.153295985 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2252 |
| CADD Raw score (version 1.3) | 0.549734 (Deleterious) |
| FATHMM raw prediction score | 0.14899 (Tolerated) |
| Deleterious probability by DeFine | 0.4038 (Neutral) |
| Entrez Gene ID | 26271 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXO5 (GeneCards) |
| Number of variants in FBXO5 in this database | 1 (view all the variants) |
| Full name | F-box protein 5 |
| Band | 6q25.2 |
| Other IDs | Vega: OTTHUMG00000015854 OMIM: 606013 HGNC: HGNC:13584 Ensembl: ENSG00000112029 |
| Other names | EMI1, FBX5, Fbxo31 |
| 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 the 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 Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008] |
| Individual ID | 28503910.81 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |