ETV6
[[TOC]]
ETV6 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The prevalence of mutations in DLBCL has varied across different studies and may occur in as many as 10% of patients. This gene has some recurrent sites of mutations (hot spots) including multiple mutations predicted to affect splicing of ETV6 pre-mRNA. The mutation pattern in DLBCL mplies the preferential accumulation of inactivating mutations. Coding and non-coding mutations in this gene are associated with the MCD genetic subgroup of DLBCL.
| Entity | Tier | Description |
|---|---|---|
 |
1 | aSHM target and high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012; @albuquerqueEnhancingKnowledgeDiscovery2017; @reddyGeneticFunctionalDrivers2017] |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr12 | 11796001 | 11812968 | TSS | strong_enhancer |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 11803078 | C>T | A6V |
| chr12 | 11803087 | G>A | S9N |
| chr12 | 11803094 | G>A | K11= |
Disclaimer
The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.
In particular, let us know if you feel that an important citation is missing or if a paper has been cited incorrectly.
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.