Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 3 | Mutations are unlikely to be relevant to BL | |
| 2 | Role of SALL3 mutations in MCL requires confirmation |
Warnings
The variants reported in this gene in BL failed QC
Mutation incidence in large patient cohorts (GAMBL reanalysis)
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 0 | 0 | [0,0] |
| BL | GAMBL without ICGC/Zhou | 320 | 0 | 0 | [0,0] |
| BL | GAMBL with Panea | 410 | 0 | 0 | [0,0] |
| BL | BLGSP | 219 | 0 | 0 | [0,0] |
| BL | Zhou/ICGC | 90 | 0 | 0 | [0,0] |
| BL | Panea | 101 | 0 | 0 | [0,0] |
MCL
[[include:tables/MCL_SALL3]
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.7043 | 0 | 1.0000 |
| FL | 1.2472 | 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
Representative Mutations
Rating ★ ★ ☆ ☆
☆
All Mutations
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2012-12-01 : Love : BL
2014-05-08 : Zhang : MCL
References
1.
Love
C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi
WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L,
Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader
MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A,
Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations
in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325.
PMCID: PMC3674561
2.
Zhang J, Jima D, Moffitt AB, Liu Q, Czader M,
Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C,
Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic
landscape of mantle cell lymphoma is related to the epigenetically
determined chromatin state of normal B cells. Blood.
2014 May 8;123(19):2988–2996.

