CUL9

Chr 6

cullin 9

Also known as: H7AP1, PARC

NCBI Gene: 23113ENSG00000112659UniProt: Q8IWT3

Predicted to enable ubiquitin ligase complex scaffold activity. Involved in microtubule cytoskeleton organization; protein ubiquitination; and regulation of mitotic nuclear division. Part of cullin-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jun 2026]

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
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.28
LOEUF· LoF intol.
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
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.28LOEUF
pLI 0.992
Z-score 8.27
OE 0.20 (0.14–0.28)
Highly constrained

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

Missense Constraint?
3.10Z-score
OE missense 0.77 (0.74–0.81)
1154 obs / 1490.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.20 (0.14–0.28)
0≤0.351.4
Missense OE?0.77 (0.74–0.81)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 25 / 124.6Missense obs/exp: 1154 / 1490.4Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CUL9 · 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