Table of Contents
Experimental Evidence
Driver mutations affecting this gene in BL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | High-confidence BL gene |
 |
1 | High-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 42 | 0.0386 | [0.0271,0.05] |
| DLBCL | GAMBL with Reddy | 2,088 | 73 | 0.0350 | [0.0271,0.0428] |
| DLBCL | BC | 231 | 6 | 0.0260 | [0.0055,0.0465] |
| DLBCL | Dana-Farber | 303 | 14 | 0.0462 | [0.0226,0.0698] |
| DLBCL | NCI | 470 | 20 | 0.0426 | [0.0243,0.0608] |
| DLBCL | Reddy | 999 | 31 | 0.0310 | [0.0203,0.0418] |
| DLBCL | DLBCL_ICGC | 85 | 2 | 0.0235 | [0,0.0558] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 11 | 0.0355 | [0.0149,0.0562] |
| BL | GAMBL without ICGC/Zhou | 320 | 12 | 0.0374 | [0.0166,0.0583] |
| BL | GAMBL with Panea | 410 | 15 | 0.0365 | [0.0183,0.0546] |
| BL | BLGSP | 219 | 8 | 0.0365 | [0.0117,0.0614] |
| BL | Zhou/ICGC | 90 | 3 | 0.0333 | [0,0.0704] |
| 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 | 13.5223 | 63.1081 | 0.0002 |
| FL | 2.9159 | 15.5546 | 0.9313 |
| DLBCL | 4.0999 | 30.1170 | 0.0000 |
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Expression
History
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timeline
title Publication timing
2012-12-01 : Love : BL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
References
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