PDCD4

Chr 10

programmed cell death 4

Also known as: H731

NCBI Gene: 27250ENSG00000150593UniProt: Q53EL6

This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…
0
Active trials
110
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
DN
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?
0.93LOEUF
pLI 0.000
Z-score 1.83
OE 0.59 (0.39–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.22Z-score
OE missense 0.96 (0.86–1.07)
239 obs / 248.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.39–0.93)
0≤0.351.4
Missense OE?0.96 (0.86–1.07)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 14 / 23.6Missense obs/exp: 239 / 248.7Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDCD4 · 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