PRAMEF4

Chr 1

PRAME family member 4

NCBI Gene: 400735ENSG00000243073UniProt: O60810

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be located in acrosomal vesicle. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.93
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.000
Z-score -1.49
OE 1.53 (0.98–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.70Z-score
OE missense 1.68 (1.55–1.83)
390 obs / 231.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.53 (0.98–1.93)
0≤0.351.4
Missense OE?1.68 (1.55–1.83)
0≤0.61.4
Synonymous OE?1.34
0≤1.21.6
LoF obs/exp: 14 / 9.1Missense obs/exp: 390 / 231.5Syn Z: -2.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF4 · 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