CARD11

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% 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 gene
	1	high-confidence DLBCL gene
	1	high-confidence FL gene
	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

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

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.
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
Yan Q, Huang Y, Watkins AJ, Kocialkowski S, Zeng N, Hamoudi RA, Isaacson PG, de Leval L, Wotherspoon A, Du MQ. BCR and TLR signaling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas. Haematologica. 2012 Apr;97(4):595–598. PMCID: PMC3347666
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