USP38

Chr 4

ubiquitin specific peptidase 38

Also known as: HP43.8KD

NCBI Gene: 84640ENSG00000170185UniProt: Q8NB14OMIM: 618322

Enables cysteine-type deubiquitinase activity. Involved in negative regulation of innate immune response; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K33-linked deubiquitination. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
23
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.37
OE 0.43 (0.30–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.04Z-score
OE missense 0.87 (0.81–0.94)
471 obs / 538.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.30–0.64)
0≤0.351.4
Missense OE?0.87 (0.81–0.94)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 18 / 41.4Missense obs/exp: 471 / 538.6Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

USP38 · 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