PYM1

Chr 12

PYM1 exon junction complex associated factor

Also known as: PYM, WIBG

NCBI Gene: 84305ENSG00000170473UniProt: Q9BRP8

Enables ribosome binding activity. Involved in exon-exon junction complex disassembly; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; and positive regulation of translation. Located in cell junction; cytosol; and nuclear lumen. Part of exon-exon junction complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.99
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?
0.99LOEUF
pLI 0.022
Z-score 1.59
OE 0.43 (0.21–0.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.40Z-score
OE missense 0.63 (0.52–0.77)
72 obs / 114.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.21–0.99)
0≤0.351.4
Missense OE?0.63 (0.52–0.77)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 4 / 9.2Missense obs/exp: 72 / 114.0Syn Z: -0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PYM1 · 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