Table of Contents

Overview

BIRC6, as a negative regulator of non-canonical NF-κB signaling, is implicated in lymphomagenesis. Mutations in the BIRC6 have been found in DLBCL and grey zone lymphoma (GZL).1,2

Relevance tier by entity

Entity Tier Description
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 2,088 146 0.0699 [0.059,0.0809]
DLBCL BC 231 14 0.0606 [0.0298,0.0914]
DLBCL Dana-Farber 303 17 0.0561 [0.0302,0.082]
DLBCL NCI 470 47 0.1000 [0.0729,0.1271]
DLBCL Reddy 999 64 0.0641 [0.0489,0.0792]
DLBCL DLBCL_ICGC 85 4 0.0471 [0.002,0.0921]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 22 0.0343 [0.0202,0.0483]
FL GAMBL with Crouch 1,189 22 0.0185 [0.0108,0.0262]
FL BC 379 14 0.0369 [0.018,0.0559]
FL Kalmbach 164 6 0.0366 [0.0079,0.0653]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 2 0.0202 [0,0.0479]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.7543 0.9135 1.0000
FL 2.0421 6.1517 1.0000
DLBCL 0.8364 1.8217 0.0184

BIRC6 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 32740138 T>A C3550*

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 2017-10-10 : Reddy : DLBCL 2021-04-01 : Sarkozy : PMBL 2018-10-01 : Arthur : DLBCL

References

1.
Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C. Mutational landscape of gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765–1776.
2.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481–494.e15. PMCID: PMC5659841
3.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.