HIST1H2AC - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @krysiakRecurrentSomaticMutations2017, @chapuyMolecularSubtypesDiffuse2018, @morinMutationalStructuralAnalysis2013, @hubschmannMutationalMechanismsShaping2021,
Overview
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.
Relevance tier by entity
include:tables/table1_HIST1H2AC.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_HIST1H2AC.md
BL
include:tables/BL_HIST1H2AC.md
FL
include:tables/FL_HIST1H2AC.md
Mutation pattern and selective pressure estimates
include:tables/dnds_HIST1H2AC.md
HIST1H2AC Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26124549 | G>T | R30L |
| chr6 | 26124560 | CTGCTCCG>- | L34* |
| chr6 | 26124578 | T>G | Y40D |
| chr6 | 26124581 | G>A | A41T |
| chr6 | 26124690 | C>G | T77S |
| chr6 | 26124709 | C>G | H83Q |
| chr6 | 26124737 | G>A | E93K |
| chr6 | 26124740 | C>G | L94V |
| chr6 | 26124740 | C>T | L94F |
| chr6 | 26124767 | A>G | I103V |
| chr6 | 26124769 | T>G | I103M |
| chr6 | 26124770 | G>A | A104T |
| chr6 | 26124770 | G>C | A104P |
| chr6 | 26124771 | C>G | A104G |
| chr6 | 26124771 | C>T | A104V |
| chr6 | 26124791 | A>G | N111D |
| chr6 | 26124800 | G>A | A114T |
| chr6 | 26124819 | A>G | K120R |
| chr6 | 26124832 | CC>TT | H125Y |
include:tables/browser_HIST1H2AC.md
Expression
include:tables/mermaid_HIST1H2AC.md