CCZ1

Chr 7

CCZ1 vacuolar protein trafficking and biogenesis associated

Also known as: C7orf28A, CCZ1A, CGI-43, H_DJ1163J12.2

NCBI Gene: 51622ENSG00000122674UniProt: P86791

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
LOEUF
—
Mechanism
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?
0.92LOEUF
pLI 0.000
Z-score 1.83
OE 0.57 (0.36–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.19Z-score
OE missense 1.04 (0.93–1.17)
199 obs / 191.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.57 (0.36–0.92)
0≤0.351.4
Missense OE?1.04 (0.93–1.17)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 12 / 21.1Missense obs/exp: 199 / 191.5Syn Z: -0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCZ1 · 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