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

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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

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Expression

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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

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