USP35

Chr 11

ubiquitin specific peptidase 35

This gene encodes a member of the peptidase C19 family of ubiquitin-specific proteases. These deubiquitinating enzymes (DUBs) catalyze the removal of ubiquitin proteins from other proteins. The encoded protein associates with polarized mitochondria and has been shown to inhibit NF-kappa B activation and delay PARK2-mediated degradation of mitochondria. Expression of this gene is upregulated by the let-7a microRNA and reduced expression has been observed in human tumor tissues. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…
0
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
DN
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?
0.72LOEUF
pLI 0.000
Z-score 2.81
OE 0.48 (0.32–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.29Z-score
OE missense 1.03 (0.97–1.11)
589 obs / 569.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.48 (0.32–0.72)
0≤0.351.4
Missense OE?1.03 (0.97–1.11)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 16 / 33.6Missense obs/exp: 589 / 569.2Syn Z: -1.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

USP35 · 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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