BUB3

Chr 10

BUB3 mitotic checkpoint protein

Also known as: BUB3L, hBUB3

NCBI Gene: 9184ENSG00000154473UniProt: O43684

This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.809
Z-score 3.36
OE 0.16 (0.07–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.98Z-score
OE missense 0.60 (0.51–0.70)
115 obs / 192.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.16 (0.07–0.42)
0≤0.351.4
Missense OE?0.60 (0.51–0.70)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 3 / 18.6Missense obs/exp: 115 / 192.5Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BUB3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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