Table of Contents

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of ST6GAL1 mutations in DLBCL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 1.15
DLBCL Schmitz cohort 1.49
DLBCL Reddy cohort 0.90
DLBCL Chapuy cohort 0.85

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 4.3977 0 1.0000
FL 0.9009 0 1.0000
DLBCL 0.0000 0 0.9986

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr3 186647943 186650177 TSS-2 NA
chr3 186739628 186740875 TSS-1 active_promoter
chr3 186709494 186721749 intron-2 NA
chr3 186782522 186784438 intron-1 strong_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 2018-10-01 : Arthur : DLBCL

References

1.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379

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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