Table of Contents
Overview
ETS1 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. This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations.
Relevance tier by entity
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Warnings
The variants reported in this gene in BL failed QC
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 67 | 0.0615 | [0.0473,0.0758] |
| DLBCL | GAMBL with Reddy | 2,088 | 111 | 0.0532 | [0.0435,0.0628] |
| DLBCL | BC | 231 | 11 | 0.0476 | [0.0202,0.0751] |
| DLBCL | Dana-Farber | 303 | 15 | 0.0495 | [0.0251,0.0739] |
| DLBCL | NCI | 470 | 37 | 0.0787 | [0.0544,0.1031] |
| DLBCL | Reddy | 999 | 44 | 0.0440 | [0.0313,0.0568] |
| DLBCL | DLBCL_ICGC | 85 | 4 | 0.0471 | [0.002,0.0921] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 22 | 0.0343 | [0.0202,0.0483] |
| FL | GAMBL with Crouch | 1,189 | 22 | 0.0185 | [0.0108,0.0262] |
| FL | BC | 379 | 12 | 0.0317 | [0.014,0.0493] |
| FL | Kalmbach | 164 | 6 | 0.0366 | [0.0079,0.0653] |
| FL | Crouch | 547 | 0 | 0.0002 | [0,0.0013] |
| FL | FL_ICGC | 99 | 4 | 0.0404 | [0.0016,0.0792] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 16.2349 | 45.0315 | 0 |
| FL | 3.7007 | 33.6400 | 0 |
| DLBCL | 2.3729 | 5.1884 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 128339774 | 128345731 | intron | enhancer |
| chr11 | 128388492 | 128394163 | TSS-2 | active_promoter |
ETS1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr11 | 128391889 | T>A | M1? |
| chr11 | 128391888 | A>C | M1? |
| chr11 | 128391871 | G>A | L7F |
| chr11 | 128391867 | T>C | K8R |
| chr11 | 128391865 | GC>CT | P9A |
| chr11 | 128391865 | G>C | P9A |
| chr11 | 128391865 | G>A | P9S |
| chr11 | 128391861 | G>A | T10I |
| chr11 | 128391859 | G>C | L11V |
| chr11 | 128391855 | G>C | T12S |
| chr11 | 128391855 | G>A | T12I |
| chr11 | 128391853 | T>C | I13V |
| chr11 | 128391853 | T>A | I13F |
| chr11 | 128391848 | G>C | I14M |
| chr11 | 128391846 | T>C | K15R |
| chr11 | 128391841 | C>G | E17Q |
| chr11 | 128391841 | C>A | E17* |
| chr11 | 128391824 | C>G | E22D |
| chr11 | 128391823 | G>A | L23F |
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Expression
Representative Mutations
BL1
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