Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of SMEK1 mutations in DLBCL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | NA |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 0.90 |
| DLBCL | Chapuy cohort | 2.99 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.000 | 5.691 |
| DLBCL | No | No | 1.264 | 0.000 |
| FL | No | No | 9.566 | 58.730 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2018-05-01 : Chapuy : DLBCL
References
1.
Zhang J, Grubor V, Love CL, Banerjee A,
Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G,
Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C,
Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A,
Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J,
Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse
large B-cell lymphoma. Proceedings of the
National Academy of Sciences of the United States of America.
2013;110:1398–1403. PMCID: PMC3557051


