BCOR - morinlab/LLMPP GitHub Wiki
BCOR acts as a co-repressor of BCL6, and mutations in BCOR could impair its binding affinity to BCL6 and other partners. Overall, protein-altering mutations in BCOR seem to be rare in DLBCL and MCL.1,2 One study reported a much higher prevalence of a hot spot mutation in BCOR but this result has not been reproduced.1
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timeline
title Publication timing
2017-07-27 : Jallades : MZL
2020-09-17 : Nadeu : MCL
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in MZL not firmly established[@jalladesExomeSequencingIdentifies2017] |
 |
2 | low-confidence DLBCL gene |
 |
1 | high-confidence MCL gene [@nadeuGenomicEpigenomicInsights2020b] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 7.66 |
| DLBCL | Reddy cohort | 2.50 |
| DLBCL | Chapuy cohort | 2.56 |
| MCL | GAMBL genomes | 3.79 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.341 | 0 |
| DLBCL | No | No | 2.471 | 0 |
| FL | No | No | 1.743 | 0 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chrX | 39921444 | T>C | N1459S |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
