IRF1 - morinlab/LLMPP GitHub Wiki
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1
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timeline
title Publication timing
2021-05-05 : Hübschmann : DLBCL
| Entity | Tier | Description |
|---|---|---|
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@hubschmannMutationalMechanismsShaping2021b] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.29 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 1.90 |
| DLBCL | Chapuy cohort | 2.56 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.409 | 0.000 |
| DLBCL | Yes | No | 2.468 | 39.294 |
| FL | Yes | No | 6.465 | 0.000 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr5 | 131823933 | 131826458 | TSS | active_promoter |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
