Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of MYO18A mutations in BL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 23 | 0.0211 | [0.0126,0.0297] |
| DLBCL | GAMBL with Reddy | 2,088 | 50 | 0.0239 | [0.0174,0.0305] |
| DLBCL | BC | 231 | 0 | 0.0004 | [0,0.0031] |
| DLBCL | Dana-Farber | 303 | 6 | 0.0198 | [0.0041,0.0355] |
| DLBCL | NCI | 470 | 16 | 0.0340 | [0.0176,0.0504] |
| DLBCL | Reddy | 999 | 27 | 0.0270 | [0.017,0.0371] |
| DLBCL | DLBCL_ICGC | 85 | 1 | 0.0118 | [0,0.0347] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 13 | 0.0202 | [0.0094,0.0311] |
| FL | GAMBL with Crouch | 1,189 | 14 | 0.0118 | [0.0056,0.0179] |
| FL | BC | 379 | 9 | 0.0237 | [0.0084,0.0391] |
| FL | Kalmbach | 164 | 3 | 0.0183 | [0,0.0388] |
| FL | Crouch | 547 | 1 | 0.0018 | [0,0.0054] |
| FL | FL_ICGC | 99 | 1 | 0.0101 | [0,0.0298] |
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 | 1.7832 | 0.0000 | 1.0000 |
| FL | 2.1044 | 2.2177 | 1.0000 |
| DLBCL | 0.0000 | 0.0000 | 0.9986 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
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timeline
title Publication timing
2012-10-04 : Schmitz : BL
References
1.
Schmitz R, Young RM, Ceribelli M, Jhavar S,
Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell
J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P,
Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E,
Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI,
Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S,
Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM.
Burkitt lymphoma pathogenesis and therapeutic targets from structural
and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867


