HIST1H2AC

Relevance tier by entity

Entity Tier Description
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 5.16
DLBCL Schmitz cohort 6.17
DLBCL Reddy cohort 3.40
DLBCL Chapuy cohort 6.41
FL GAMBL genomes 2.31

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.742 0.000
DLBCL No No 3.090 20.364
FL No No 1.715 0.000

[!NOTE] First described in DLBCL in 2013 by Morin RD

## 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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

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