WBP1L

Chr 10

WW domain binding protein 1 like

Also known as: C10orf26, OPA1L, OPAL1

NCBI Gene: 54838ENSG00000166272UniProt: Q9NX94OMIM: 611129

Predicted to enable ubiquitin protein ligase binding activity. Predicted to be involved in CXCL12-activated CXCR4 signaling pathway. Predicted to act upstream of or within hemopoiesis and positive regulation of protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating 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
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.47
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.47LOEUF
pLI 0.640
Z-score 3.06
OE 0.18 (0.08–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.02Z-score
OE missense 0.80 (0.71–0.91)
172 obs / 214.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.08–0.47)
0≤0.351.4
Missense OE?0.80 (0.71–0.91)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 3 / 16.3Missense obs/exp: 172 / 214.1Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

WBP1L · 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