GTSF1

Chr 12

gametocyte specific factor 1

Also known as: Cue110, FAM112B

NCBI Gene: 121355ENSG00000170627UniProt: Q8WW33

Enables tRNA binding activity. Predicted to be involved in piRNA-mediated gene silencing by mRNA destabilization and secondary piRNA processing. Predicted to be located in cytoplasm. Predicted to be active in piP-body. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
DN
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?
0.78LOEUF
pLI 0.022
Z-score 2.15
OE 0.37 (0.19–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.04Z-score
OE missense 0.69 (0.56–0.85)
63 obs / 91.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.19–0.78)
0≤0.351.4
Missense OE?0.69 (0.56–0.85)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 5 / 13.5Missense obs/exp: 63 / 91.0Syn Z: -0.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GTSF1 · 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