OTUD7B

Chr 1

OTU deubiquitinase 7B

Also known as: CEZANNE, ZA20D1

NCBI Gene: 56957ENSG00000264522UniProt: Q6GQQ9OMIM: 611748

Enables K48-linked deubiquitinase activity and cysteine-type deubiquitinase activity. Involved in several processes, including negative regulation of protein localization to nucleus; protein deubiquitination; and regulation of intracellular signal transduction. Located in cytoplasm and nucleus. [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
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.011
Z-score 4.07
OE 0.29 (0.18–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.79Z-score
OE missense 0.90 (0.83–0.97)
436 obs / 485.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.29 (0.18–0.48)
0≤0.351.4
Missense OE?0.90 (0.83–0.97)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 11 / 38.1Missense obs/exp: 436 / 485.2Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OTUD7B · 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