EPG5

Chr 18AR

ectopic P-granules 5 autophagy tethering factor

Also known as: HEEW1, KIAA1632, NEDPAM, VICIS

NCBI Gene: 57724ENSG00000152223UniProt: Q9HCE0OMIM: 615068

This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.462 OMIM phenotypes
Clinical Summary— EPG5
🧬
Gene-Disease Validity (ClinGen)
Vici syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.46LOEUF
pLI 0.000
Z-score 6.88
OE 0.36 (0.28–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.08Z-score
OE missense 0.92 (0.87–0.96)
1233 obs / 1344.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.28–0.46)
0≤0.351.4
Missense OE?0.92 (0.87–0.96)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 48 / 134.0Missense obs/exp: 1233 / 1344.4Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EPG5 · 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