Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of WNK2 mutations in BL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 3.23 |
| BL | Thomas cohort | 0.80 |
| BL | Panea cohort | 10.90 |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.2094 | 0.0000 | 1.0000 |
| FL | 1.0220 | 1.4427 | 1.0000 |
| DLBCL | 0.0000 | 0.0000 | 0.9986 |
WNK2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr9 | 96031211 | G>A | A1375T |
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Expression
History
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timeline
title Publication timing
2019-09-26 : Panea : BL
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;


