IRF8
IRF8 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.
| 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 |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.31 |
| BL | Thomas cohort | 1.30 |
| BL | Panea cohort | 6.90 |
| DLBCL | GAMBL genomes | 8.03 |
| DLBCL | Schmitz cohort | 10.43 |
| DLBCL | Reddy cohort | 7.61 |
| DLBCL | Chapuy cohort | 10.26 |
| FL | GAMBL genomes | 12.01 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 1.360 | 0.000 |
| DLBCL | Yes | Yes | 6.806 | 0.000 |
| FL | Yes | Yes | 28.663 | 102.572 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr16 | 85931918 | 85933977 | TSS | active_promoter |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr16 | 85936688 | T>C | Y23H |
| chr16 | 85936701 | T>G | I27S |
| chr16 | 85936784 | T>G | S55A |
| chr16 | 85936788 | T>C | I56T |
| chr16 | 85942602 | G>T | A61S |
| chr16 | 85942618 | A>G | K66R |
| chr16 | 85942671 | T>C | C84R |
| chr16 | 85942692 | G>A | D91N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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