PRAMEF4

Chr 1

PRAME family member 4

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…
DNmechanismLOEUF 1.93
Clinical SummaryPRAMEF4
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.000
Z-score -1.49
OE 1.53 (0.981.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.70Z-score
OE missense 1.68 (1.551.83)
390 obs / 231.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.53 (0.981.93)
00.351.4
Missense OE?1.68 (1.551.83)
00.61.4
Synonymous OE?1.34
01.21.6
LoF obs/exp: 14 / 9.1Missense obs/exp: 390 / 231.5Syn Z: -2.53

This gene — mechanism propensity

DN
0.76top 25%
GOF
0.6249th %ile
LOF
0.1894th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in 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

No active trials found for this gene.

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