PEAR1

Chr 1

platelet endothelial aggregation receptor 1

Also known as: JEDI, MEGF12

NCBI Gene: 375033ENSG00000187800UniProt: Q5VY43

PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
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?
0.89LOEUF
pLI 0.000
Z-score 2.26
OE 0.68 (0.53–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.71Z-score
OE missense 0.92 (0.86–0.99)
595 obs / 645.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.53–0.89)
0≤0.351.4
Missense OE?0.92 (0.86–0.99)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 40 / 58.7Missense obs/exp: 595 / 645.9Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PEAR1 · 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