PLEKHO1

Chr 1

pleckstrin homology domain containing O1

Also known as: CKIP-1, CKIP1, JBP, OC120

NCBI Gene: 51177ENSG00000023902UniProt: Q53GL0

Predicted to be involved in regulation of myoblast fusion. Predicted to act upstream of or within several processes, including lamellipodium morphogenesis; myoblast fusion; and myoblast migration. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.483
Z-score 3.19
OE 0.21 (0.10–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.07Z-score
OE missense 0.99 (0.89–1.10)
244 obs / 247.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.10–0.48)
0≤0.351.4
Missense OE?0.99 (0.89–1.10)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 4 / 19.0Missense obs/exp: 244 / 247.1Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLEKHO1 · 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