FBXW10
protein-codingF-box and WD repeat domain containing 10, the group of WD repeat domain containing|F-box and WD repeat domain containing
Gene summary
Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
- C17orf1
- C17orf1A
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~35.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FBXW10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001267585.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | ||||
| missense | 3 | 3 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 5 | 3 | 0 | 8 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001254514.1 | 14 | MANE Select | |
| Ensembl | ENSP00000379025.4 | 14 | MANE Select | |
| RefSeq | NP_001254515.1 | 13 | Standard | |
| RefSeq | NP_001397988.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Post-translational protein modification
- Metabolism of proteins
- Chaperonin-mediated protein folding
- Immune System
- Association of TriC/CCT with target proteins during biosynthesis
Biological Process
- protein polyubiquitination
- post-translational protein modification
Molecular Function
- ubiquitin-protein transferase activity
Cellular Component
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000395665
- Coding exons
- 14
- Length
- 35337
- Individuals with no LoFs
- 123763
- Homozygous LoFs
- 15
- Heterozygous LoFs
- 1970
- Defined
- 125748
- p
- 0.00792
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.00 | 498 | 565 | 0.881 | 0.0000302 | 6888 |
| Missense (PolyPhen) | 135 | 155.96 | 0.8656 | 2074 | ||
| Synonymous | 0.0302 | 224 | 225 | 0.997 | 0.0000130 | 1982 |
| Loss of Function | 0.857 | 45 | 51.6 | 0.871 | 0.00000304 | 580 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.070 | 0.069 | notable |
| Latino/Admixed American | 0.0091 | 0.0090 | notable |
| Ashkenazi Jewish | 0.00040 | 0.00040 | rare |
| East Asian | 0.017 | 0.017 | notable |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0.0015 | 0.0015 | notable |
| South Asian | 0.0024 | 0.0024 | notable |
| Other | 0.0074 | 0.0074 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Probable substrate-recognition component of a SCF (SKP1- CUL1-F-box protein)-type E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Overexpression is leading to degradation of CBX5 and CBX1. {ECO:0000269|PubMed:20498703}.;
Recessive Scores
- pRec
- 0.0851
Intolerance Scores
- RVIS EVS
- 1.27
- RVIS percentile EVS
- 93.65
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0540
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |