TSNAX

Chr 1

translin associated factor X

Also known as: C3PO, TRAX

NCBI Gene: 7257ENSG00000116918UniProt: Q99598

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]

ResearchGenerating clinical summary…
LOEUF 0.53
Clinical Summary— TSNAX
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.
📋
ClinVar Variants
28 VUS of 35 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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

35 submitted variants in ClinVar

ClinVar

Classification Summary

VUS28
Benign4
28
VUS
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
28
0
0
28
Likely Benign
0
0
0
0
0
Benign
0
1
1
2
4
Total0291232

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

38 pathogenic / likely-pathogenic (of 43) ClinVar copy-number / structural variants overlap TSNAX — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

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