Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 165 0.1515 [0.1302,0.1728]
DLBCL GAMBL with Reddy 2,088 262 0.1255 [0.1113,0.1397]
DLBCL BC 231 36 0.1558 [0.1091,0.2026]
DLBCL Dana-Farber 303 40 0.1320 [0.0939,0.1701]
DLBCL NCI 470 79 0.1681 [0.1343,0.2019]
DLBCL Reddy 999 97 0.0971 [0.0787,0.1155]
DLBCL DLBCL_ICGC 85 10 0.1176 [0.0492,0.1861]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 260 0.4050 [0.367,0.443]
FL GAMBL with Crouch 1,189 524 0.4407 [0.4125,0.4689]
FL BC 379 146 0.3852 [0.3362,0.4342]
FL Kalmbach 164 77 0.4695 [0.3931,0.5459]
FL Crouch 547 264 0.4826 [0.4408,0.5245]
FL FL_ICGC 99 37 0.3737 [0.2784,0.469]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.9974 24.5966 1
FL 37.0958 411.8990 0
DLBCL 3.8379 22.1471 0

TNFRSF14 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 2488104 A>G M1?
chr1 2488105 T>C M1?
chr1 2488105 T>G M1?
chr1 2488106 G>A M1?
chr1 2488107 G>T E2*
chr1 2488123 G>A W7*
chr1 2488124 G>A W7*
chr1 2488132 C>A P10H
chr1 2488138 G>A W12*
chr1 2488139 G>A W12*
chr1 2488152 A>T K17*
chr1 2488156 C>A T18N

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Expression

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References

1.
Cheung KJJ, Johnson NA, Affleck JG, Severson T, Steidl C, Ben-Neriah S, Schein J, Morin RD, Moore R, Shah SP, Qian H, Paul JE, Telenius A, Relander T, Lam W, Savage K, Connors JM, Brown C, Marra MA, Gascoyne RD, Horsman DE. Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis. Cancer Res. 2010 Nov 15;70(22):9166–9174.
2.
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
3.
Spina V, Khiabanian H, Messina M, Monti S, Cascione L, Bruscaggin A, Spaccarotella E, Holmes AB, Arcaini L, Lucioni M, Tabbò F, Zairis S, Diop F, Cerri M, Chiaretti S, Marasca R, Ponzoni M, Deaglio S, Ramponi A, Tiacci E, Pasqualucci L, Paulli M, Falini B, Inghirami G, Bertoni F, Foà R, Rabadan R, Gaidano G, Rossi D. The genetics of nodal marginal zone lymphoma. Blood. 2016 Sep 8;128(10):1362–1373. PMCID: PMC5016706