TSPY10

Chr Y

testis specific protein Y-linked 10

NCBI Gene: 100289087 ENSG00000236424 UniProt: P0CW01

The protein is predicted to bind chromatin and histones and may be involved in sperm differentiation and proliferation. No established Mendelian diseases are currently associated with TSPY10 mutations in pediatric patients. This gene shows low constraint against loss-of-function variants, suggesting tolerance to such changes.

ResearchSummary from RefSeq, UniProt

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in sex differentiation. 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 1.90

Clinical Summary— TSPY10

⚡

Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.90LOEUF

pLI 0.284

Z-score 0.17

OE 0.00 (0.00–1.90)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.16Z-score

OE missense 0.00 (0.00–1.88)

0 obs / 0.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.90)

0≤0.351.4

Missense OE?0.00 (0.00–1.88)

0≤0.61.4

Synonymous OE?0.00

0≤1.21.6

LoF obs/exp: 0 / 0.0Missense obs/exp: 0 / 0.2Syn Z: 0.25

This gene — mechanism propensity

0.6065th %ile

GOF

0.73top 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.