PRAMEF12

Chr 1

PRAME family member 12

NCBI Gene: 390999ENSG00000116726UniProt: O95522

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
1.26
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.26LOEUF
pLI 0.000
Z-score 0.95
OE 0.70 (0.41–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.13Z-score
OE missense 1.20 (1.09–1.32)
301 obs / 250.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.41–1.26)
0≤0.351.4
Missense OE?1.20 (1.09–1.32)
0≤0.61.4
Synonymous OE?1.48
0≤1.21.6
LoF obs/exp: 8 / 11.5Missense obs/exp: 301 / 250.6Syn Z: -3.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF12 · 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