TSNAX

Chr 1

translin associated factor X

Also known as: C3PO, TRAX

NCBI Gene: 7257ENSG00000116918UniProt: Q99598OMIM: 602964

This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.53
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.489
Z-score 2.82
OE 0.20 (0.09–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.30Z-score
OE missense 0.70 (0.60–0.82)
107 obs / 152.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.09–0.53)
0≤0.351.4
Missense OE?0.70 (0.60–0.82)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 3 / 14.7Missense obs/exp: 107 / 152.2Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSNAX · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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