Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of FAT4 mutations in DLBCL requires confirmation
MCL 2 Role of FAT4 mutations in MCL requires confirmation
MZL 2 Role of FAT4 mutations in MZL requires confirmation
PMBL 2 Role of FAT4 mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

MCL

pathology Collection N mutated Incidence CI
MCL GAMBL 160 6 0.0374 [0.008,0.0668]
MCL BC_MCL 103 4 0.0388 [0.0015,0.0761]
MCL Barcelona 57 2 0.0351 [0,0.0829]

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]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 45 0.0701 [0.0503,0.0898]
FL GAMBL with Crouch 1,189 105 0.0883 [0.0722,0.1044]
FL BC 379 25 0.0660 [0.041,0.091]
FL Kalmbach 164 14 0.0854 [0.0426,0.1281]
FL Crouch 547 60 0.1097 [0.0835,0.1359]
FL FL_ICGC 99 6 0.0606 [0.0136,0.1076]

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 184 0.1690 [0.1467,0.1912]
DLBCL GAMBL with Reddy 2,088 333 0.1595 [0.1438,0.1752]
DLBCL BC 231 23 0.0996 [0.061,0.1382]
DLBCL Dana-Farber 303 53 0.1749 [0.1321,0.2177]
DLBCL NCI 470 96 0.2043 [0.1678,0.2407]
DLBCL Reddy 999 149 0.1491 [0.1271,0.1712]
DLBCL DLBCL_ICGC 85 12 0.1412 [0.0672,0.2152]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.9231 0.9844 1.0000
FL 0.9681 1.1156 1.0000
DLBCL 0.0000 0.0000 0.9986

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

All Mutations

DLBCL

RG014 RG038 RG043 RG055 RG077 RG081 RG111

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-08-15 : Morin : DLBCL 2013-12-13 : Parry : MZL 2014-05-08 : Zhang : MCL

References

1.
Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
2.
Parry M, Rose-Zerilli MJJ, Gibson J, Ennis S, Walewska R, Forster J, Parker H, Davis Z, Gardiner A, Collins A, Oscier DG, Strefford JC. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS One. 2013;8(12):e83244. PMCID: PMC3862727
3.
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.