CARD11
History
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timeline
title Publication timing
2008-03-03 : Lenz : DLBCL
2011-07-27 : Morin : FL
2012-04-01 : Yan : MZL
2016-06-21 : Wu : MCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence MZL geneyanBCRTLRSignaling2012a? | |
| 1 | high-confidence DLBCL gene1 | |
| 1 | high-confidence FL gene2 | |
| 1 | high-confidence MCL gene3 |
|
|2|relevance in BL
not firmly established| ## 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 |
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
CARD11 Expression
References
1.
Lenz
G, Davis RE, Ngo VN, Lam L, George TC, Wright GW, Dave SS, Zhao H, Xu W,
Rosenwald A, Ott G, Müller-Hermelink HK, Gascoyne RD, Connors JM, Rimsza
LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Fisher RI, Chan WC, Staudt
LM. Oncogenic
CARD11 mutations in human diffuse large B cell
lymphoma. Science. 2008 Mar;319(5870):1676–1679.
2.
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 SJM, 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. PMCID: PMC3210554
3.
Wu
C, de Miranda NF, Chen L, Wasik AM, Mansouri L, Jurczak W, Galazka K,
Dlugosz-Danecka M, Machaczka M, Zhang H, Peng R, Morin RD, Rosenquist R,
Sander B, Pan-Hammarström Q. Genetic heterogeneity in primary and
relapsed mantle cell lymphomas: Impact of recurrent
CARD11 mutations. Oncotarget. 2016 Jun
21;7(25):38180–38190. PMCID: PMC5122381


