PAX5

History

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

Relevance tier by entity

Entity Tier Description
DLBCL 2-a aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous1

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 aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 6.750 0
DLBCL Yes Yes 14.089 0
FL Yes No 10.963 0

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

PAX5 Expression

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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