HIST1H2AG - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

HIST1H2AG

<<Warn("The variants reported in BL in this gene failed QC")>>

See below or the study page for more information

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2012-08-27 : Rossi : MZL
      2013-08-15 : Morin : DLBCL
      2017-01-26 : Krysiak : FL
      2019-09-26 : Panea : BL
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Relevance tier by entity

Entity Tier Description
MZL 2 relevance in MZL not firmly established[@rossiCodingGenomeSplenic2012c]
BL 3 Retired, Failed QC[@paneaWholeGenomeLandscape2019]
DLBCL 2 relevance in DLBCL not firmly established
FL 1 high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.39
BL Thomas cohort 2.50
BL Panea cohort 1.00
DLBCL GAMBL genomes 3.44
DLBCL Schmitz cohort 3.62
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 2.99
FL GAMBL genomes 2.08

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.809 0
DLBCL No No 5.602 0
FL No No 0.405 0

HIST1H2AG Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 27101075 G>T K75N
chr6 27101083 G>A R78H
chr6 27101100 C>G L84V
chr6 27101126 G>T E92D
chr6 27101130 C>G L94V

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

Representative Mutations

BL4

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All Mutations

DLBCL[@morinMutationalStructuralAnalysis2013]

RG130 RG142

References

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