TNFAIP3
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 1 | high-confidence MZL gene | |
| 1 | high-confidence DLBCL gene | |
| 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 6.69 |
| DLBCL | Schmitz cohort | 16.60 |
| DLBCL | Reddy cohort | 8.11 |
| DLBCL | Chapuy cohort | 12.39 |
| FL | GAMBL genomes | 4.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.168 | 16.846 |
| DLBCL | No | Yes | 1.550 | 30.319 |
| FL | No | No | 5.686 | 75.953 |
[!NOTE] First described in DLBCL in 2009 by Compagno M. First described in FL in 2011 by Morin RD
## TNFAIP3 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 138197303 | G>A | E269K |
| chr6 | 138198218 | C>T | R271* |
| chr6 | 138198246 | G>A | R280Q |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
TNFAIP3 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 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.

