Table of Contents

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 2 Role of TMEM30A mutations in FL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 67 0.0615 [0.0473,0.0758]
DLBCL GAMBL with Reddy 2,088 95 0.0455 [0.0366,0.0544]
DLBCL BC 231 8 0.0346 [0.0111,0.0582]
DLBCL Dana-Farber 303 16 0.0528 [0.0276,0.078]
DLBCL NCI 470 36 0.0766 [0.0526,0.1006]
DLBCL Reddy 999 28 0.0280 [0.0178,0.0383]
DLBCL DLBCL_ICGC 85 7 0.0824 [0.0239,0.1408]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 2 0.0031 [-0.0012,0.0074]
FL GAMBL with Crouch 1,189 3 0.0025 [-3e-04,0.0054]
FL BC 379 1 0.0026 [0,0.0078]
FL Kalmbach 164 0 0.0006 [0,0.0044]
FL Crouch 547 1 0.0018 [0,0.0054]
FL FL_ICGC 99 1 0.0101 [0,0.0298]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.9188 31.7390 1
FL 1.9312 0.0000 1
DLBCL 7.3133 278.3947 0

TMEM30A Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 75969072 G>A R226*
chr6 75965985 G>A R307*
chr6 75965975 A>T M310K

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 2011-07-27 : Morin : DLBCL 2013-01-01 : Zhang : DLBCL 2013-08-15 : Morin : DLBCL 2017-05-01 : Albuquerque : DLBCL 2017-10-10 : Reddy : DLBCL 2018-04-12 : Schmitz : DLBCL

References

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Ennishi D, Healy S, Bashashati A, Saberi S, Hother C, Mottok A, Chan FC, Chong L, Abraham L, Kridel R, Boyle M, Meissner B, Aoki T, Takata K, Woolcock BW, Viganò E, Gold M, Molday LL, Molday RS, Telenius A, Li MY, Wretham N, Dos Santos N, Wong M, Viller NN, Uger RA, Duns G, Baticados A, Madero A, Bristow BN, Farinha P, Slack GW, Ben-Neriah S, Lai D, Zhang AW, Salehi S, Shulha HP, Chiu DS, Mostafavi S, Gerrie AS, Huang DW, Rushton C, Villa D, Sehn LH, Savage KJ, Mungall AJ, Weng AP, Bally MB, Morin RD, Cohen Freue GV, Staudt LM, Connors JM, Marra MA, Shah SP, Gascoyne RD, Scott DW, Steidl C. TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. Nat Med. 2020 Apr;26(4):577–588. PMCID: PMC8480332
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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
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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
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Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proceedings of the National Academy of Sciences of the United States of America. 2013;110:1398–1403. PMCID: PMC3557051

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.

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