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 gene |
 |
2 | relevance in FL not firmly established |
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
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
SJ, 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. doi: 10.1038/nature10351. PMID: 21796119; PMCID:
PMC3210554. ## TMEM30A Expression
