Table of Contents

Relevance tier by entity

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Warnings

The variants reported in BL in this gene failed QC

See below or the study page for more information

Mutation incidence in large patient cohorts (GAMBL reanalysis)

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 11 0.0171 [0.0071,0.0272]
FL GAMBL with Crouch 1,189 31 0.0261 [0.017,0.0351]
FL BC 379 4 0.0106 [3e-04,0.0208]
FL Kalmbach 164 3 0.0183 [0,0.0388]
FL Crouch 547 20 0.0366 [0.0208,0.0523]
FL FL_ICGC 99 4 0.0404 [0.0016,0.0792]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 4 0.0034 [0,0.0098]
BL GAMBL without ICGC/Zhou 320 5 0.0144 [0.0014,0.0275]
BL GAMBL with Panea 410 5 0.0040 [0,0.0101]
BL BLGSP 219 4 0.0183 [5e-04,0.036]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 1 0.0099 [0,0.0292]

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 34 0.0312 [0.0209,0.0416]
DLBCL GAMBL with Reddy 2,088 53 0.0254 [0.0186,0.0321]
DLBCL BC 231 6 0.0260 [0.0055,0.0465]
DLBCL Dana-Farber 303 8 0.0264 [0.0083,0.0445]
DLBCL NCI 470 17 0.0362 [0.0193,0.0531]
DLBCL Reddy 999 19 0.0190 [0.0105,0.0275]
DLBCL DLBCL_ICGC 85 3 0.0353 [0,0.0745]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.2072 0.0000 1.0000
FL 0.7568 3.0635 1.0000
DLBCL 0.4932 0.7401 0.0025

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

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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

References

1.
Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
2.
Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: Activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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