CUL7

Chr 6

cullin 7

Also known as: 3M1, CUL-7, KIAA0076, dJ20C7.5

NCBI Gene: 9820ENSG00000044090UniProt: Q14999

The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProt3M syndrome 1

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
LOF
Mechanism· G2P
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GeneReview available — CUL7
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 3.59
OE 0.57 (0.45–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.54Z-score
OE missense 0.95 (0.90–1.00)
959 obs / 1007.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.45–0.73)
0≤0.351.4
Missense OE?0.95 (0.90–1.00)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 47 / 82.0Missense obs/exp: 959 / 1007.5Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CUL7 · 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