PEBP4

Chr 8

phosphatidylethanolamine binding protein 4

Also known as: CORK-1, CORK1, GWTM1933, HEL-S-300, PEBP-4, PRO4408, hPEBP4

The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
1.29
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.000
Z-score 0.89
OE 0.71 (0.421.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.67Z-score
OE missense 1.17 (1.021.33)
150 obs / 128.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.71 (0.421.29)
00.351.4
Missense OE?1.17 (1.021.33)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 8 / 11.2Missense obs/exp: 150 / 128.7Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PEBP4 · 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.

Search ClinicalTrials.gov →