EPPK1
History
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timeline
title Publication timing
2019-09-26 : Panea : BL
## Relevance
tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence BL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 6.47 |
| BL | Thomas cohort | 7.60 |
| BL | Panea cohort | 15.80 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.066 | 0.0 |
| DLBCL | No | No | 1.164 | 7.7 |
| FL | No | No | 2.802 | 0.0 |
## EPPK1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 144946005 | G>A | R473W |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## EPPK1
Expression 
## 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;