PRAMEF11

Chr 1

PRAME family member 11

NCBI Gene: 440560ENSG00000239810UniProt: O60813

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. 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
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
Multiple*
Mechanism· predicted
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?
1.31LOEUF
pLI 0.001
Z-score 0.94
OE 0.66 (0.36–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.69Z-score
OE missense 1.71 (1.57–1.86)
365 obs / 213.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.66 (0.36–1.31)
0≤0.351.4
Missense OE?1.71 (1.57–1.86)
0≤0.61.4
Synonymous OE?1.56
0≤1.21.6
LoF obs/exp: 6 / 9.0Missense obs/exp: 365 / 213.3Syn Z: -4.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF11 · 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