FOXP1
History
| Entity | Tier | Description |
|---|---|---|
| 2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 0.57 |
| DLBCL | Schmitz cohort | 3.62 |
| DLBCL | Reddy cohort | 2.10 |
| DLBCL | Chapuy cohort | 2.99 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.218 | 9.469 |
| DLBCL | Yes | No | 7.387 | 17.777 |
| FL | Yes | No | 0.000 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 71104986 | 71119518 | TSS-4 | active_promoter |
| chr3 | 71176427 | 71180960 | TSS-3 | active_promoter |
| chr3 | 71350633 | 71357665 | TSS-2 | active_promoter |
| chr3 | 71503103 | 71504870 | intron-1b | intron |
| chr3 | 71550753 | 71551478 | intron-1a | intron |
| chr3 | 71626341 | 71635648 | TSS-1 | active_promoter |
[!NOTE] First described in DLBCL in 2017 by Reddy A
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## FOXP1
Expression
##
References 1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop
A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard
P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q,
Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff
JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear
A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E,
Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M,
Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel
R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS.
Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell.
2017 Oct;171(2):481-494.e15.


