SEL1L3 - morinlab/LLMPP GitHub Wiki
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SEL1L3
Relevance tier by entity
| 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 | 5.16 |
| DLBCL | Schmitz cohort | 4.04 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | NA |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.665 | 3.278 |
| DLBCL | Yes | No | 1.724 | 0.000 |
| FL | Yes | No | 2.299 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr4 | 25861094 | 25868788 | TSS | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
SEL1L3 Expression
