TMSB4X
Overview
TMSB4X is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| FL | 1-a | aSHM target and high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 0.69 |
| BL | Thomas cohort | 0.00 |
| BL | Panea cohort | 2.00 |
| DLBCL | GAMBL genomes | 12.43 |
| DLBCL | Schmitz cohort | 20.85 |
| DLBCL | Reddy cohort | 13.11 |
| DLBCL | Chapuy cohort | 18.38 |
| FL | GAMBL genomes | 4.39 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.000 | 0.000 |
| DLBCL | Yes | Yes | 23.522 | 254.537 |
| FL | Yes | Yes | 60.545 | 310.498 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chrX | 12993308 | 12994511 | intron | active_promoter |
[!NOTE] First described in DLBCL in 2017 by Albuquerque MA
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
