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
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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 | 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 |
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Expression
History
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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
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