TMEM30A

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2011-07-27 : Morin : DLBCL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence DLBCL gene¹
	2	relevance in FL not firmly established¹

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	4.78
DLBCL	Schmitz cohort	7.66
DLBCL	Reddy cohort	2.80
DLBCL	Chapuy cohort	5.56
FL	GAMBL genomes	0.92

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	4.270	46.360
DLBCL	No	Yes	0.000	221.848
FL	No	No	5.098	0.000

TMEM30A Hotspots

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

TMEM30A Expression

## References

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

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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