Table of Contents
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 66 | 0.0606 | [0.0464,0.0748] |
| DLBCL | GAMBL with Reddy | 2,088 | 100 | 0.0479 | [0.0387,0.0571] |
| DLBCL | BC | 231 | 12 | 0.0519 | [0.0233,0.0806] |
| DLBCL | Dana-Farber | 303 | 19 | 0.0627 | [0.0354,0.09] |
| DLBCL | NCI | 470 | 30 | 0.0638 | [0.0417,0.0859] |
| DLBCL | Reddy | 999 | 34 | 0.0340 | [0.0228,0.0453] |
| DLBCL | DLBCL_ICGC | 85 | 5 | 0.0588 | [0.0088,0.1088] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 40 | 0.0623 | [0.0436,0.081] |
| FL | GAMBL with Crouch | 1,189 | 73 | 0.0614 | [0.0478,0.075] |
| FL | BC | 379 | 22 | 0.0580 | [0.0345,0.0816] |
| FL | Kalmbach | 164 | 14 | 0.0854 | [0.0426,0.1281] |
| FL | Crouch | 547 | 33 | 0.0603 | [0.0404,0.0803] |
| FL | FL_ICGC | 99 | 4 | 0.0404 | [0.0016,0.0792] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 3.0048 | 0.0000 | 1 |
| FL | 29.6193 | 19.9481 | 0 |
| DLBCL | 7.8967 | 11.2772 | 0 |
POU2F2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr19 | 42600031 | C>G | Q238H |
| chr19 | 42600031 | C>A | Q238H |
| chr19 | 42600030 | T>C | T239A |
| chr19 | 42600030 | T>A | T239S |
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Expression
History
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timeline
title Publication timing
2012-03-06 : Lohr : DLBCL
2013-01-01 : Zhang : DLBCL
2017-01-26 : Krysiak : FL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
References
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