USP45

Chr 6AR

ubiquitin specific peptidase 45

Also known as: LCA19

NCBI Gene: 85015ENSG00000123552UniProt: Q70EL2OMIM: 618439

The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Leber congenital amaurosis 19MIM #618513
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.000
Z-score 1.27
OE 0.78 (0.59–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.64Z-score
OE missense 0.91 (0.83–0.99)
367 obs / 403.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.59–1.06)
0≤0.351.4
Missense OE?0.91 (0.83–0.99)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 31 / 39.6Missense obs/exp: 367 / 403.3Syn Z: 1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

USP45 · 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