Table of Contents

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of PAX5 mutations in DLBCL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.63
DLBCL Schmitz cohort 3.19
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 3.42

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 3.6414 0.0000 1.0000
FL 14.0733 10.2663 0.0391
DLBCL 0.0000 0.0000 0.9986

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr9 37023396 37027663 intron-1 intron
chr9 37029849 37037154 TSS-1 active_promoter
chr9 37369209 37372160 distal-enhancer-1 enhancer
chr9 37382267 37385854 distal-enhancer-2 enhancer
chr9 37395932 37409239 distal-enhancer-3 enhancer

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2001-07-19 : Pasqualucci : DLBCL

References

1.
Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature. 2001 Jul 19;412(6844):341–346.

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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