Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of NOA1 mutations in BL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
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] |
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 7 | 0.0064 | [0.0017,0.0112] |
| DLBCL | GAMBL with Reddy | 2,088 | 16 | 0.0077 | [0.0039,0.0114] |
| DLBCL | BC | 231 | 0 | 0.0004 | [0,0.0031] |
| DLBCL | Dana-Farber | 303 | 2 | 0.0066 | [0,0.0157] |
| DLBCL | NCI | 470 | 5 | 0.0106 | [0.0014,0.0199] |
| DLBCL | Reddy | 999 | 9 | 0.0090 | [0.0031,0.0149] |
| DLBCL | DLBCL_ICGC | 85 | 0 | 0.0012 | [0,0.0085] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 5 | 0.0078 | [0.001,0.0146] |
| FL | GAMBL with Crouch | 1,189 | 5 | 0.0042 | [5e-04,0.0079] |
| FL | BC | 379 | 3 | 0.0079 | [0,0.0168] |
| FL | Kalmbach | 164 | 2 | 0.0122 | [0,0.029] |
| FL | Crouch | 547 | 0 | 0.0002 | [0,0.0013] |
| FL | FL_ICGC | 99 | 0 | 0.0010 | [0,0.0073] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.6034 | 0 | 1.0000 |
| FL | 1.5321 | 0 | 1.0000 |
| DLBCL | 0.0000 | 0 | 0.9986 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2022-07-06 : Burkhardt : BL
References
1.
Burkhardt B, Michgehl U, Rohde J, Erdmann T,
Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S,
Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N,
Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J,
Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von
Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau
M, Lenz G. Clinical relevance of molecular characteristics in
Burkitt lymphoma differs according to age. Nat Commun. 2022
Jul 6;13(1):3881. PMCID: PMC9259584


