Table of Contents
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 22 | 0.0491 | [0.0253,0.0729] |
| BL | GAMBL without ICGC/Zhou | 320 | 25 | 0.0726 | [0.0442,0.1009] |
| BL | GAMBL with Panea | 410 | 27 | 0.0492 | [0.0285,0.07] |
| BL | BLGSP | 219 | 20 | 0.0913 | [0.0532,0.1295] |
| BL | Zhou/ICGC | 90 | 2 | 0.0222 | [0,0.0527] |
| BL | Panea | 101 | 5 | 0.0495 | [0.0072,0.0918] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 3.5999 | 11.7833 | 0.0001 |
| FL | 3.4833 | 11.6174 | 0.0023 |
| DLBCL | 1.2925 | 3.2747 | 0.1429 |
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;


