| Variant ID | 4355 |
|---|---|
| Entrez Gene ID | 7247 |
| Gene | TSN (GeneCards) |
| Location | hg19 2:123811255-123811255
hg38 2:123053679-123053679 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.123811255 C>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3148 |
| CADD Raw score (version 1.3) | 0.092905 (Deleterious) |
| FATHMM raw prediction score | 0.08271 (Tolerated) |
| Deleterious probability by DeFine | 0.0768 (Neutral) |
| Entrez Gene ID | 7247 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSN (GeneCards) |
| Number of variants in TSN in this database | 24 (view all the variants) |
| Full name | translin |
| Band | 2q14.3 |
| Other IDs | Vega: OTTHUMG00000153334 OMIM: 600575 HGNC: HGNC:12379 Ensembl: ENSG00000211460 |
| Other names | C3PO, RCHF1, TBRBP, TRSLN, BCLF-1, REHF-1 |
| Summary | This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] |
| 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; |