Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence BL gene | |
| 2 | Role of TCL1A mutations in DLBCL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 31 | 0.0285 | [0.0186,0.0383] |
| DLBCL | GAMBL with Reddy | 2,088 | 59 | 0.0283 | [0.0211,0.0354] |
| DLBCL | BC | 231 | 4 | 0.0173 | [5e-04,0.0341] |
| DLBCL | Dana-Farber | 303 | 8 | 0.0264 | [0.0083,0.0445] |
| DLBCL | NCI | 470 | 18 | 0.0383 | [0.0209,0.0556] |
| DLBCL | Reddy | 999 | 28 | 0.0280 | [0.0178,0.0383] |
| DLBCL | DLBCL_ICGC | 85 | 1 | 0.0118 | [0,0.0347] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 13 | 0.0038 | [0,0.0105] |
| BL | GAMBL without ICGC/Zhou | 320 | 17 | 0.0514 | [0.0272,0.0756] |
| BL | GAMBL with Panea | 410 | 17 | 0.0049 | [0,0.0115] |
| BL | BLGSP | 219 | 13 | 0.0594 | [0.0281,0.0907] |
| BL | Zhou/ICGC | 90 | 0 | 0.0011 | [0,0.008] |
| BL | Panea | 101 | 4 | 0.0396 | [0.0016,0.0776] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 8.5288 | 30.6395 | 0.0012 |
| FL | 7.4018 | 26.7852 | 0.0006 |
| DLBCL | 1.5506 | 5.8808 | 0.0000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr14 | 96179535 | 96180366 | TSS | active_promoter |
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
2019-03-21 : Grande : BL
References
1.
Grande BM, Gerhard DS, Jiang A, Griner NB,
Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K,
Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA,
Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL,
He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE,
Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG,
Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J,
Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH,
Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery
of somatic coding and noncoding mutations in pediatric endemic and
sporadic Burkitt lymphoma. Blood. 2019;133(12):1313–1324.
PMCID: PMC6428665

