PRAMEF1

Chr 1

PRAME family member 1

NCBI Gene: 65121ENSG00000116721UniProt: O95521

This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
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?
1.88LOEUF
pLI 0.000
Z-score -1.03
OE 1.35 (0.88–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.13Z-score
OE missense 1.39 (1.27–1.52)
326 obs / 234.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.35 (0.88–1.88)
0≤0.351.4
Missense OE?1.39 (1.27–1.52)
0≤0.61.4
Synonymous OE?1.43
0≤1.21.6
LoF obs/exp: 14 / 10.4Missense obs/exp: 326 / 234.2Syn Z: -3.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF1 · 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