Overview

ZFP36L1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

Relevance tier by entity

Entity Tier Description
BL 2 Role of ZFP36L1 mutations in BL requires confirmation
DLBCL 1 High-confidence DLBCL gene
PMBL 1 High-confidence PMBL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 82 0.0753 [0.0596,0.091]
DLBCL GAMBL with Reddy 2,088 138 0.0661 [0.0554,0.0767]
DLBCL BC 231 9 0.0390 [0.014,0.0639]
DLBCL Dana-Farber 303 24 0.0792 [0.0488,0.1096]
DLBCL NCI 470 40 0.0851 [0.0599,0.1103]
DLBCL Reddy 999 56 0.0561 [0.0418,0.0703]
DLBCL DLBCL_ICGC 85 9 0.1059 [0.0405,0.1713]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 4 0.0034 [0,0.0098]
BL GAMBL without ICGC/Zhou 320 7 0.0208 [0.0052,0.0364]
BL GAMBL with Panea 410 7 0.0043 [0,0.0106]
BL BLGSP 219 4 0.0183 [5e-04,0.036]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 3 0.0297 [0,0.0628]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.4428 108.9442 0.0012
FL 3.0952 92.5587 0.0000
DLBCL 1.1243 15.4958 0.0000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr14 69257848 69259739 TSS active_promoter

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Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2011-07-27 : Morin : DLBCL 2015-02-12 : Reichel : PMBL 2017-05-01 : Albuquerque : DLBCL 2018-04-12 : Schmitz : DLBCL 2018-05-01 : Chapuy : DLBCL 2018-10-01 : Arthur : DLBCL 2019-09-26 : Panea : BL 2021-05-05 : Hubschmann : DLBCL

References

1.
Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298–303. PMCID: PMC3210554
2.
Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
3.
Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072.