CDC42EP1

Chr 22

CDC42 effector protein 1

Also known as: BORG5, CEP1, MSE55

CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.73
LOEUF
GOF
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?
1.73LOEUF
pLI 0.000
Z-score 0.05
OE 0.98 (0.551.73)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.79Z-score
OE missense 1.14 (1.031.26)
272 obs / 237.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.98 (0.551.73)
00.351.4
Missense OE?1.14 (1.031.26)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 7 / 7.1Missense obs/exp: 272 / 237.7Syn Z: -0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDC42EP1 · 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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