Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of PPP4C mutations in FL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| FL | GAMBL genomes | 2.08 |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.6886 | 20.14 | 1.0000 |
| FL | 18.9997 | 0.00 | 0.0146 |
| DLBCL | 0.0000 | 0.00 | 0.9986 |
PPP4C Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr16 | 30093814 | G>A | D54N |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
All Mutations
SP192997 SP116720 SP192997 SP59320
History
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timeline
title Publication timing
2021-05-05 : Hübschmann : FL
References
1.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart
SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M,
Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann
AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo
de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann
ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C,
Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA,
Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P,
Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero
JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A,
Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W,
Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining
consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R.
Mutational mechanisms shaping the coding and noncoding genome of
germinal center derived B-cell lymphomas.
Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491


