CPNE5

Chr 6

copine 5

ENSG00000124772UniProt: Q9HCH3

Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)

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
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.000
Z-score 3.74
OE 0.34 (0.22–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.72Z-score
OE missense 0.61 (0.55–0.68)
234 obs / 384.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.34 (0.22–0.55)
0≤0.351.4
Missense OE?0.61 (0.55–0.68)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 13 / 37.8Missense obs/exp: 234 / 384.0Syn Z: 0.61

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CPNE5 · 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