Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence MZL gene | |
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 2 | relevance in DLBCL not firmly established1 | |
| 1 | high-confidence FL gene |
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 | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.000 | 0.000 |
| DLBCL | No | No | 1.223 | 0.389 |
| FL | No | No | 0.000 | 0.000 |
PCLO Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr7 | 82585303 | G>T | L1656I |
| chr7 | 82585302 | A>G | L1656P |
| chr7 | 82544727 | T>C | K4192R |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PCLO Expression
Cannot include /mermaid_PCLO.md - does not exist yet
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


