| Variant ID | 2708 |
|---|---|
| Entrez Gene ID | 100303453 |
| Gene | TSNAX-DISC1 (GeneCards) |
| Location | hg19 1:232121940-232121940
hg38 1:231986194-231986194 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.232121940 T>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0715 |
| CADD Raw score (version 1.3) | 0.36755 (Deleterious) |
| FATHMM raw prediction score | 0.20408 (Tolerated) |
| Deleterious probability by DeFine | 0.5033 (Deleterious) |
| Entrez Gene ID | 100303453 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSNAX-DISC1 (GeneCards) |
| Number of variants in TSNAX-DISC1 in this database | 9 (view all the variants) |
| Full name | TSNAX-DISC1 readthrough (NMD candidate) |
| Band | 1q42.2 |
| Other IDs | Vega: OTTHUMG00000183905 HGNC: HGNC:49177 Ensembl: ENSG00000270106 |
| Other names | None |
| 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] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |