TSPYL4

Chr 6

TSPY like 4

Also known as: dJ486I3.2

NCBI Gene: 23270ENSG00000187189UniProt: Q9UJ04

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in nucleosome assembly. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score 0.87
OE 0.73 (0.44–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.74Z-score
OE missense 0.87 (0.77–0.97)
206 obs / 238.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.44–1.28)
0≤0.351.4
Missense OE?0.87 (0.77–0.97)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 9 / 12.3Missense obs/exp: 206 / 238.1Syn Z: -0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSPYL4 · 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