TSNAX-DISC1
Chr 1TSNAX-DISC1 readthrough (NMD candidate)
This gene represents a naturally occurring read-through transcript between the neighboring TSNAX and DISC1 genes that produces multiple splice variants targeted for nonsense-mediated decay and is unlikely to encode functional protein. Alterations in the processing of this transcript may be associated with increased risk for psychiatric illness, particularly schizophrenia. The inheritance pattern and specific disease mechanisms remain unclear given the complex nature of this read-through transcript.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
224 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 2 | 119 | 1 | 1 | 123 |
Likely Benign | 0 | 19 | 5 | 16 | 40 |
Benign | 0 | 10 | 2 | 6 | 18 |
Conflicting | — | 1 | |||
| Total | 2 | 148 | 25 | 23 | 199 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSNAX-DISC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools