Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence BL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
BL
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Mutation pattern and selective pressure estimates
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BMP7 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr20 | 55841157 | C>T | A8T |
| chr20 | 55841157 | C>G | A8P |
| chr20 | 55841156 | G>C | A8G |
| chr20 | 55841155 | AG>TA | A8V |
| chr20 | 55840966 | G>T | H71Q |
| chr20 | 55840965 | G>C | L72V |
| chr20 | 55840962 | G>C | Q73E |
| chr20 | 55840958 | C>T | G74D |
| chr20 | 55840954 | C>A | K75N |
| chr20 | 55840953 | G>T | H76N |
| chr20 | 55840953 | G>C | H76D |
| chr20 | 55840953 | G>A | H76Y |
| chr20 | 55840944 | C>G | A79P |
| chr20 | 55840935 | A>G | F82L |
| chr20 | 55840918 | G>C | Y87* |
| chr20 | 55840913 | G>T | A89D |
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Expression
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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;
