PRAMEF17

Chr 1

PRAME family member 17

NCBI Gene: 391004ENSG00000204479UniProt: Q5VTA0

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
1.95
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?
1.95LOEUF
pLI 0.000
Z-score -1.50
OE 1.70 (0.94–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.43Z-score
OE missense 1.11 (0.96–1.28)
133 obs / 119.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.70 (0.94–1.95)
0≤0.351.4
Missense OE?1.11 (0.96–1.28)
0≤0.61.4
Synonymous OE?1.23
0≤1.21.6
LoF obs/exp: 9 / 5.3Missense obs/exp: 133 / 119.8Syn Z: -1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF17 · 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