ST6GAL1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
ST6GAL1
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2018-10-01 : Arthur : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@arthurGenomewideDiscoverySomatic2018] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.15 |
| DLBCL | Schmitz cohort | 1.49 |
| DLBCL | Reddy cohort | 0.90 |
| DLBCL | Chapuy cohort | 0.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 4.123 | 0.000 |
| DLBCL | Yes | Yes | 2.511 | 33.311 |
| FL | Yes | No | 0.000 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 186647943 | 186650177 | TSS-2 | NA |
| chr3 | 186739628 | 186740875 | TSS-1 | active_promoter |
| chr3 | 186709494 | 186721749 | intron-2 | NA |
| chr3 | 186782522 | 186784438 | intron-1 | strong_enhancer |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
ST6GAL1 Expression
