BIRC6
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
History
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timeline
title Publication timing
2017-10-10 : Reddy : DLBCL
2021-04-01 : Sarkozy : PMBL
2018-10-01 : Arthur : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene1 | |
| 1 | high-confidence DLBCL gene2,3 | |
| 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Cannot include /DLBCL_BIRC6.md - does not exist yet
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.862 | 1.339 |
| DLBCL | No | No | 1.795 | 5.011 |
| FL | No | No | 2.997 | 7.132 |
BIRC6 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 32740138 | T>A | C3550* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
BIRC6 Expression
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


