FBXO5

Chr 6

F-box protein 5

Also known as: EMI1, FBX5, Fbxo31

NCBI Gene: 26271ENSG00000112029UniProt: Q9UKT4OMIM: 606013

The protein regulates APC (anaphase promoting complex) activity during mitotic and meiotic cell cycles, acting as both an inhibitor and substrate to coordinate DNA replication with mitosis and preserve genome integrity. This gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.32), but no definitive Mendelian disease associations have been established in the provided data. Additional clinical and genetic studies would be needed to determine specific disease phenotypes and inheritance patterns associated with FBXO5 mutations.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.32
Clinical Summary— FBXO5
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.970
Z-score 3.69
OE 0.10 (0.04–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.82Z-score
OE missense 0.85 (0.75–0.95)
191 obs / 225.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.04–0.32)
0≤0.351.4
Missense OE0.85 (0.75–0.95)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 2 / 19.7Missense obs/exp: 191 / 225.7Syn Z: 0.68
DN
0.2997th %ile
GOF
0.2994th %ile
LOF
0.75top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.32

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FBXO5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients