CARD11
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 2 | relevance in BL not firmly established |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
| MCL | 1 | high-confidence MCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.16 |
| BL | Thomas cohort | 1.70 |
| BL | Panea cohort | 10.90 |
| DLBCL | GAMBL genomes | 11.28 |
| DLBCL | Schmitz cohort | 15.32 |
| DLBCL | Reddy cohort | 7.81 |
| DLBCL | Chapuy cohort | 8.12 |
| FL | GAMBL genomes | 14.78 |
| MCL | GAMBL genomes | 1.42 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 5.307 | 0.000 |
| DLBCL | No | Yes | 16.898 | 0.000 |
| FL | No | Yes | 28.329 | 27.096 |
[!NOTE] First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD. First described in MCL in 2016 by Wu C
## CARD11 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr7 | 2979522 | T>C | E242G |
| chr7 | 2979521 | T>A | E242D |
| chr7 | 2979513 | A>G | L245P |
| chr7 | 2979508 | T>C | R247G |
| chr7 | 2979501 | T>G | Q249P |
| chr7 | 2979499 | A>G | S250P |
| chr7 | 2979495 | A>G | L251P |
| chr7 | 2979493 | T>A | K252* |
| chr7 | 2979486 | T>C | K254R |
| chr7 | 2979481 | C>T | D256N |
| chr7 | 2977614 | T>C | D357G |
| chr7 | 2977614 | T>A | D357V |
| chr7 | 2977604 | C>A | M360I |
| chr7 | 2977602 | T>G | Y361S |
| chr7 | 2977602 | T>C | Y361C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
References
-
Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett
RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M,
Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M,
Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan
S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B,
Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse
K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones
SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of
histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul
27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID:
PMC3210554. ## CARD11 Expression
