TSNAX-DISC1

ncRNA

TSNAX-DISC1 readthrough (NMD candidate)

Gene summary

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]

MANE transcript

N/A

Inheritance

—

ClinVar variants

B:2

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr1:231,528,653-231,819,244

External References & Databases

Ensembl (ENSG00000270106)

NCBI Gene (100303453)

HGNC:49177

GenCC

ClinVar (TSNAX-DISC1)

Transcript & Mutation Effects

hg38 • Region Span ~290.6 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TSNAX-DISC1 variants in ClinVar

5 Conditions Cataloged

Inborn genetic diseasesTotal: 35

not providedTotal: 34

DISC1-related conditionTotal: 4

not specifiedTotal: 2

-Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar	1 clinvar	2
Total	0	0	0	1	1	2

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000602567.1	Ensembl	ENSP00000473456.1	6	Standard
ENST00000602634.5	Ensembl	ENSP00000473307.1	5	Standard
ENST00000602885.5	Ensembl	ENSP00000473476.1	3	Standard
ENST00000602956.5	Ensembl	ENSP00000473532.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

sequence-specific DNA binding

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.: N
Indispensability score: 0.231