ETS1 - morinlab/LLMPP GitHub Wiki
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.
<<Warn("The variants reported in this gene in BL failed QC")>>
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2013-08-15 : Morin : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2019-09-26 : Panea : BL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
1 | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011] |
 |
3 | Retired, Failed QC[@paneaWholeGenomeLandscape2019] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.59 |
| DLBCL | Schmitz cohort | 7.87 |
| DLBCL | Reddy cohort | 4.40 |
| DLBCL | Chapuy cohort | 5.56 |
| BL | GAMBL genomes+capture | 7.62 |
| BL | Thomas cohort | 7.60 |
| BL | Panea cohort | 11.90 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| DLBCL | Yes | No | 2.987 | 0.000 |
| FL | Yes | No | 5.163 | 25.463 |
| BL | Yes | No | 5.097 | 18.417 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 128339774 | 128345731 | intron | enhancer |
| chr11 | 128388492 | 128394163 | TSS-2 | active_promoter |
| 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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