Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of PLCG2 mutations in BL requires confirmation | |
| 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
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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;


