USP9Y

Chr YYL

ubiquitin specific peptidase 9 Y-linked

Also known as: DFFRY, FAF-Y, SPGFY2

NCBI Gene: 8287ENSG00000114374UniProt: O00507OMIM: 400005

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure, Y-linked, 2MIM #415000
YL
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — USP9Y
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.000
Z-score 3.52
OE 0.38 (0.25–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.39Z-score
OE missense 1.06 (0.97–1.15)
409 obs / 387.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.25–0.59)
0≤0.351.4
Missense OE?1.06 (0.97–1.15)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 14 / 37.2Missense obs/exp: 409 / 387.3Syn Z: -1.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

USP9Y · 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