BIRC6 - morinlab/LLMPP GitHub Wiki
BIRC6, as a negative regulator of non-canonical NF-κB signaling, is implicated in lymphomagenesis. Mutations in the BIRC6 have been found in DLBCL and grey zone lymphoma (GZL).1,2
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2017-10-10 : Reddy : DLBCL
2021-04-01 : Sarkozy : PMBL
2018-10-01 : Arthur : DLBCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene [@sarkozyMutationalLandscapeGray2021a] |
 |
1 | high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017; @arthurGenomewideDiscoverySomatic2018] |
 |
1 | high-confidence FL gene |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 7.27 |
| DLBCL | Schmitz cohort | 10.00 |
| DLBCL | Reddy cohort | 6.41 |
| DLBCL | Chapuy cohort | 4.70 |
| FL | GAMBL genomes | 3.70 |
| BL | GAMBL genomes+capture | 6.00 |
| BL | Thomas cohort | 3.80 |
| BL | Panea cohort | 14.90 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.862 | 1.339 |
| DLBCL | No | No | 1.795 | 5.011 |
| FL | No | No | 2.997 | 7.132 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 32740138 | T>A | C3550* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
