Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence BL gene | |
| 1 | High-confidence DLBCL gene |
Mutation incidence
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 37 | 0.0340 | [0.0232,0.0447] |
| DLBCL | GAMBL with Reddy | 2,088 | 61 | 0.0292 | [0.022,0.0364] |
| DLBCL | BC | 231 | 8 | 0.0346 | [0.0111,0.0582] |
| DLBCL | Dana-Farber | 303 | 10 | 0.0330 | [0.0129,0.0531] |
| DLBCL | NCI | 470 | 16 | 0.0340 | [0.0176,0.0504] |
| DLBCL | Reddy | 999 | 24 | 0.0240 | [0.0145,0.0335] |
| DLBCL | DLBCL_ICGC | 85 | 3 | 0.0353 | [0,0.0745] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 15 | 0.0038 | [0,0.0106] |
| BL | GAMBL without ICGC/Zhou | 320 | 24 | 0.0740 | [0.0453,0.1026] |
| BL | GAMBL with Panea | 410 | 24 | 0.0051 | [0,0.0118] |
| BL | BLGSP | 219 | 15 | 0.0685 | [0.035,0.1019] |
| BL | Zhou/ICGC | 90 | 0 | 0.0011 | [0,0.008] |
| BL | Panea | 101 | 9 | 0.0891 | [0.0335,0.1447] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 21 | 0.0327 | [0.019,0.0465] |
| FL | GAMBL with Crouch | 1,189 | 21 | 0.0177 | [0.0102,0.0251] |
| FL | BC | 379 | 14 | 0.0369 | [0.018,0.0559] |
| FL | Kalmbach | 164 | 3 | 0.0183 | [0,0.0388] |
| FL | Crouch | 547 | 0 | 0.0002 | [0,0.0013] |
| FL | FL_ICGC | 99 | 4 | 0.0404 | [0.0016,0.0792] |
Mutation pattern
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.8463 | 24.2455 | 0 |
| FL | 1.6357 | 21.6216 | 0 |
| DLBCL | 0.8871 | 4.3802 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 245023502 | 245029083 | TSS | NA |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2017-10-10 : Reddy : DLBCL
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;
2.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love
CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg
ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W,
Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y,
Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O,
Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB,
Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava
G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn
A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T,
Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional
Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017
Oct;171(2):481–494.e15. PMCID: PMC5659841


