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).
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 | 165 | 0.1515 | [0.1302,0.1728] |
| DLBCL | GAMBL with Reddy | 2,088 | 262 | 0.1255 | [0.1113,0.1397] |
| DLBCL | BC | 231 | 36 | 0.1558 | [0.1091,0.2026] |
| DLBCL | Dana-Farber | 303 | 40 | 0.1320 | [0.0939,0.1701] |
| DLBCL | NCI | 470 | 79 | 0.1681 | [0.1343,0.2019] |
| DLBCL | Reddy | 999 | 97 | 0.0971 | [0.0787,0.1155] |
| DLBCL | DLBCL_ICGC | 85 | 10 | 0.1176 | [0.0492,0.1861] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 260 | 0.4050 | [0.367,0.443] |
| FL | GAMBL with Crouch | 1,189 | 524 | 0.4407 | [0.4125,0.4689] |
| FL | BC | 379 | 146 | 0.3852 | [0.3362,0.4342] |
| FL | Kalmbach | 164 | 77 | 0.4695 | [0.3931,0.5459] |
| FL | Crouch | 547 | 264 | 0.4826 | [0.4408,0.5245] |
| FL | FL_ICGC | 99 | 37 | 0.3737 | [0.2784,0.469] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.9974 | 24.5966 | 1 |
| FL | 37.0958 | 411.8990 | 0 |
| DLBCL | 3.8379 | 22.1471 | 0 |
TNFRSF14 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 2488104 | A>G | M1? |
| chr1 | 2488105 | T>C | M1? |
| chr1 | 2488105 | T>G | M1? |
| chr1 | 2488106 | G>A | M1? |
| chr1 | 2488107 | G>T | E2* |
| chr1 | 2488123 | G>A | W7* |
| chr1 | 2488124 | G>A | W7* |
| chr1 | 2488132 | C>A | P10H |
| chr1 | 2488138 | G>A | W12* |
| chr1 | 2488139 | G>A | W12* |
| chr1 | 2488152 | A>T | K17* |
| chr1 | 2488156 | C>A | T18N |
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Expression
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References
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