Table of Contents
Relevance tier by entity
Cannot include /table1_TMEM30A.md - does not exist yet
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Cannot include /DLBCL_TMEM30A.md - does not exist yet
Cannot include /FL_TMEM30A.md - does not exist yet
Mutation pattern and selective pressure estimates
Cannot include /dnds_TMEM30A.md - does not exist yet
TMEM30A Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 75969072 | G>A | R226* |
| chr6 | 75965985 | G>A | R307* |
| chr6 | 75965975 | A>T | M310K |
Cannot include /browser_TMEM30A.md - does not exist yet
Expression
Cannot include /mermaid_TMEM30A.md - does not exist yet
References
1.
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
2.
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
3.
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


