TSSK1B

Chr 5

testis specific serine kinase 1B

Also known as: FKSG81, SPOGA4, STK22D, TSK1, TSSK1

NCBI Gene: 83942ENSG00000212122UniProt: Q9BXA7

TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.71
LOEUF
Multiple*
Mechanism· predicted
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?
1.71LOEUF
pLI 0.000
Z-score 0.17
OE 0.93 (0.50–1.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.34Z-score
OE missense 1.06 (0.96–1.18)
260 obs / 244.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.50–1.71)
0≤0.351.4
Missense OE?1.06 (0.96–1.18)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 6 / 6.5Missense obs/exp: 260 / 244.9Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSSK1B · 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