Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | Role of PCLO mutations in DLBCL requires confirmation |
 |
1 | High-confidence MZL gene |
 |
2 | Role of PCLO mutations in PMBL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 16.44 |
| DLBCL | Schmitz cohort | 21.28 |
| DLBCL | Reddy cohort | 15.12 |
| DLBCL | Chapuy cohort | 23.08 |
| FL | GAMBL genomes | 9.24 |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 4.0059 | 3.1731 | 1.0000 |
| FL | 1.0614 | 0.7042 | 1.0000 |
| DLBCL | 0.0000 | 0.0000 | 0.9986 |
PCLO Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr7 | 82585303 | G>T | L1656I |
| chr7 | 82585302 | A>G | L1656P |
| chr7 | 82544727 | T>C | K4192R |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
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timeline
title Publication timing
2012-03-06 : Lohr : DLBCL
References
1.
Lohr
JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C,
Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A,
Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N,
Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A,
Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A,
Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES,
Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and
prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by
whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar
6;109(10):3879–3884. PMCID: PMC3309757