COP1

Chr 1

COP1 E3 ubiquitin ligase

Also known as: CFAP78, FAP78, RFWD2, RNF200

NCBI Gene: 64326ENSG00000143207UniProt: Q5EG05OMIM: 615680

Enables ubiquitin protein ligase activity. Involved in several processes, including negative regulation of fatty acid biosynthetic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to ionizing radiation. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating 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.
1
Active trials
130
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 5.69
OE 0.09 (0.04–0.20)
Highly constrained

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

Missense Constraint?
2.53Z-score
OE missense 0.62 (0.56–0.70)
222 obs / 356.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.09 (0.04–0.20)
0≤0.351.4
Missense OE?0.62 (0.56–0.70)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 4 / 45.4Missense obs/exp: 222 / 356.4Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COP1 · protein map & ClinVar variants

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

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