CHD8
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 |
 |
2 | relevance in DLBCL not firmly established1 |
 |
1 | high-confidence BL gene2 |
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
References
1.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love
CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg
ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W,
Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y,
Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O,
Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB,
Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava
G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn
A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T,
Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional
Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017
Oct;171(2):481–494.e15. PMCID: PMC5659841
2.
Grande BM, Gerhard DS, Jiang A, Griner NB,
Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K,
Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA,
Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL,
He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE,
Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG,
Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J,
Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH,
Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery
of somatic coding and noncoding mutations in pediatric endemic and
sporadic Burkitt lymphoma. Blood. 2019;133(12):1313–1324.
PMCID: PMC6428665