TSPY8

Chr Y

testis specific protein Y-linked 8

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in cytoplasm. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
GOFmechanismLOEUF 1.89
Clinical SummaryTSPY8
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.293
Z-score 0.32
OE 0.00 (0.001.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.26Z-score
OE missense 0.48 (0.161.73)
1 obs / 2.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.001.89)
00.351.4
Missense OE?0.48 (0.161.73)
00.61.4
Synonymous OE?0.00
01.21.6
LoF obs/exp: 0 / 0.1Missense obs/exp: 1 / 2.1Syn Z: 0.71

This gene — mechanism propensity

DN
0.6163th %ile
GOF
0.74top 25%
LOF
0.2190th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TSPY8 · 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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