Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of S1PR1 mutations in DLBCL requires confirmation | |
| 1 | High-confidence MCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| MCL | GAMBL | 160 | 9 | 0.0358 | [0.0073,0.0642] |
| MCL | BC_MCL | 103 | 8 | 0.0777 | [0.026,0.1294] |
| MCL | Barcelona | 57 | 1 | 0.0175 | [0,0.0516] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.7834 | 0 | 1.0000 |
| FL | 0.4862 | 0 | 1.0000 |
| DLBCL | 0.0000 | 0 | 0.9986 |
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
2020-07-30 : Pararajalingam : MCL
References
1.
Lohr
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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
2.
Pararajalingam P, Coyle KM, Arthur SE, Thomas
N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C,
Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G,
Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE,
Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers
of mantle cell lymphoma identified through exome and genome sequencing.
Blood. 2020 Jul 30;136(5):572–584. PMCID: PMC7440974


