Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 3 | Mutations are unlikely to be relevant to BL |
Warnings
The variants reported in this gene in BL failed QC
Mutation incidence in large patient cohorts (GAMBL reanalysis)
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 0 | 0 | [0,0] |
| BL | GAMBL without ICGC/Zhou | 320 | 0 | 0 | [0,0] |
| BL | GAMBL with Panea | 410 | 0 | 0 | [0,0] |
| BL | BLGSP | 219 | 0 | 0 | [0,0] |
| BL | Zhou/ICGC | 90 | 0 | 0 | [0,0] |
| BL | Panea | 101 | 0 | 0 | [0,0] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.4243 | 0 | 1.0000 |
| FL | 2.7765 | 0 | 1.0000 |
| DLBCL | 0.0000 | 0 | 0.9986 |
ALPK2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr18 | 56203836 | C>T | V1195M |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
Representative Mutations1
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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;


