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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

CHD8

<<Warn("The variants reported in this gene in DLBCL failed QC")>>

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timeline
    title Publication timing
      2017-10-10 : Reddy : DLBCL
      2019-03-21 : Grande : BL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene
	3	Retired, Failed QC [@reddyGeneticFunctionalDrivers2017]
	1	high-confidence BL gene [@grandeGenomewideDiscoverySomatic2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	8.78
BL	Thomas cohort	8.50
BL	Panea cohort	16.80
DLBCL	GAMBL genomes	1.91
DLBCL	Schmitz cohort	3.62
DLBCL	Reddy cohort	2.90
DLBCL	Chapuy cohort	2.99

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	Yes	3.551	14.940
DLBCL	No	No	1.619	0.000
FL	No	No	1.344	12.679

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CHD8 Expression

All Mutations

Reddy_2087T Reddy_2142T Reddy_2162T Reddy_2194T Reddy_2199T Reddy_2293T Reddy_2450T Reddy_2453T Reddy_2455T Reddy_2534T Reddy_2603T Reddy_2635T Reddy_2664T Reddy_2680T Reddy_2709T Reddy_2713T Reddy_2779T Reddy_2794T Reddy_2805T Reddy_2892T Reddy_2922T Reddy_2934T Reddy_3412T Reddy_3423T Reddy_3430T Reddy_3447T Reddy_3450T Reddy_3485T Reddy_3497T Reddy_3547T Reddy_3548T Reddy_3592T Reddy_3600T Reddy_3625T Reddy_3628T Reddy_3653T Reddy_3655T Reddy_3660T Reddy_3663T Reddy_3666T Reddy_3669T Reddy_3675T Reddy_3730T Reddy_3742T Reddy_3743T Reddy_3775T Reddy_3776T Reddy_3786T Reddy_3831T Reddy_3883T Reddy_3906T Reddy_3923T Reddy_3932T Reddy_3942T Reddy_3957T Reddy_3967T Reddy_3973T Reddy_3976T Reddy_3991T Reddy_3992T Reddy_830T

References