CUZD1

Chr 10

CUB and zona pellucida like domains 1

Also known as: ERG-1, ERG1, ITMAP1, UO-44

NCBI Gene: 50624ENSG00000138161UniProt: Q86UP6OMIM: 616644

Predicted to be involved in trypsinogen activation. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
1
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.000
Z-score 0.88
OE 0.81 (0.56–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.58Z-score
OE missense 0.91 (0.82–1.00)
287 obs / 316.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.56–1.18)
0≤0.351.4
Missense OE?0.91 (0.82–1.00)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 19 / 23.6Missense obs/exp: 287 / 316.0Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CUZD1 · 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