ETV6
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-a | aSHM target and high-confidence DLBCL gene |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.97 |
| DLBCL | Schmitz cohort | 10.43 |
| DLBCL | Reddy cohort | 5.81 |
| DLBCL | Chapuy cohort | 10.26 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.527 | 0.000 |
| DLBCL | Yes | Yes | 2.366 | 28.723 |
| FL | Yes | No | 2.772 | 0.000 |
| 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= |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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