TSBP1

Chr 6

testis expressed basic protein 1

Also known as: C6orf10, TSBP

NCBI Gene: 10665ENSG00000204296UniProt: Q5SRN2

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
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?
1.18LOEUF
pLI 0.000
Z-score 0.74
OE 0.86 (0.63–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.49Z-score
OE missense 0.75 (0.67–0.84)
208 obs / 278.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.86 (0.63–1.18)
0≤0.351.4
Missense OE?0.75 (0.67–0.84)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 27 / 31.5Missense obs/exp: 208 / 278.0Syn Z: 1.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSBP1 · 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