FBXW5
Chr 9F-box and WD repeat domain containing 5
Also known as: Fbw5
This gene encodes an F-box protein that serves as a substrate recognition component of SCF and DCX E3 ubiquitin ligase complexes, targeting specific proteins including SASS6, EPS8, and TSC2 for degradation to regulate centriole duplication, cell cycle progression, and mTOR signaling. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and developmental regression. The gene shows very low constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
278 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 79 | 0 | 79 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 160 | 8 | 0 | 168 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 0 | 0 | 3 | 3 |
Conflicting | — | 2 | |||
| Total | 0 | 164 | 91 | 4 | 261 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FBXW5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools