HIST1H2AM - morinlab/LLMPP GitHub Wiki
<<Warn("The variants reported in this gene in BL failed QC")>>
See below or the study page for more information
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
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timeline
title Publication timing
2017-01-26 : Krysiak : FL
2019-09-26 : Panea : BL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
 |
3 | Retired, Failed QC[@paneaWholeGenomeLandscape2019] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.93 |
| DLBCL | Schmitz cohort | 5.74 |
| DLBCL | Reddy cohort | 4.80 |
| DLBCL | Chapuy cohort | 5.98 |
| FL | GAMBL genomes | 3.70 |
| BL | GAMBL genomes+capture | 1.85 |
| BL | Thomas cohort | 1.70 |
| BL | Panea cohort | 3.00 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| DLBCL | No | No | 1.844 | 0 |
| FL | No | No | 1.845 | 0 |
| BL | No | No | 2.149 | 0 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 27860660 | T>C | N90D |
| chr6 | 27860658 | G>C | N90K |
| chr6 | 27860652 | C>G | E92D |
| chr6 | 27860652 | C>A | E92D |
| chr6 | 27860649 | C>G | E93D |
| chr6 | 27860648 | G>C | L94V |
| chr6 | 27860648 | G>A | L94F |
| chr6 | 27860644 | T>C | N95S |
| chr6 | 27860643 | G>C | N95K |
| chr6 | 27860640 | C>G | K96N |
| chr6 | 27860640 | C>A | K96N |
| chr6 | 27860639 | G>C | L97V |
| chr6 | 27860636 | G>C | L98V |
| chr6 | 27860636 | G>A | L98F |
| chr6 | 27860633 | C>G | G99R |
| chr6 | 27860632 | C>G | G99A |
| chr6 | 27860627 | C>G | V101L |
| chr6 | 27860627 | C>T | V101I |
| chr6 | 27860627 | C>A | V101F |
| chr6 | 27860624 | T>A | T102S |
| chr6 | 27860623 | G>C | T102S |
| chr6 | 27860623 | G>A | T102I |
| chr6 | 27860560 | C>G | S123T |
| chr6 | 27860559 | G>C | S123R |
| chr6 | 27860549 | C>G | A127P |
| chr6 | 27860548 | G>C | A127G |
| chr6 | 27860548 | G>A | A127V |
| chr6 | 27860542 | C>T | G129D |
| chr6 | 27860538 | C>G | K130N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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