TSNAX-DISC1

Chr 1

TSNAX-DISC1 readthrough (NMD candidate)

This gene represents naturally occurring read-through transcription between the neighboring TSNAX (translin-associated factor X) and DISC1 (disrupted in schizophrenia 1) genes on chromosome 1. Alternative splicing results in multiple transcript variants, all of which are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. These alterations in gene processing may be associated with risk for psychiatric illness, most notably, schizophrenia. [provided by RefSeq, Nov 2010]

198
ClinVar variants
17
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryTSNAX-DISC1
📋
ClinVar Variants
17 Pathogenic / Likely Pathogenic· 122 VUS of 198 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

198 submitted variants in ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic2
VUS122
Likely Benign40
Benign18
Conflicting1
15
Pathogenic
2
Likely Pathogenic
122
VUS
40
Likely Benign
18
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
2
0
2
VUS
1
118
2
1
122
Likely Benign
0
19
5
16
40
Benign
0
10
2
6
18
Conflicting
1
Total11472623198

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.

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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