Relevance tier by entity

Entity Tier Description
BL 2 Role of PLCG2 mutations in BL requires confirmation
DLBCL 3 Mutations are unlikely to be relevant to DLBCL

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 3.0
BL Thomas cohort 0.8
BL Panea cohort 10.9

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.3281 0 1.0000
FL 0.7665 0 1.0000
DLBCL 0.0000 0 0.9986

PLCG2 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr16 81819719 C>A T42N

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 2019-09-26 : Panea : BL 2020-07-01 : Fan: DLBCL

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;