SETD1B - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
SETD1B
History
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timeline
title Publication timing
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene[@albuquerqueEnhancingKnowledgeDiscovery2017a; @reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.16 |
| DLBCL | Schmitz cohort | 12.77 |
| DLBCL | Reddy cohort | 5.81 |
| DLBCL | Chapuy cohort | NA |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.000 | 0.000 |
| DLBCL | No | No | 2.645 | 24.278 |
| FL | No | Yes | 4.979 | 128.132 |
SETD1B Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 122242755 | C>A | P38T |
| chr12 | 122243045 | G>A | E66K |
| chr12 | 122243058 | A>G | D70G |
| chr12 | 122243060 | C>T | P71S |
| chr12 | 122265950 | G>A | A1858T |
| chr12 | 122265953 | C>T | R1859C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
SETD1B Expression
All Mutations
Reddy_2079T Reddy_2101T Reddy_2103T Reddy_2120T Reddy_2145T Reddy_2146T Reddy_2152T Reddy_2159T Reddy_2203T Reddy_2259T Reddy_2270T Reddy_2461T Reddy_2479T Reddy_2488T Reddy_2522T Reddy_2550T Reddy_2554T Reddy_2613T Reddy_2634T Reddy_2684T Reddy_2698T Reddy_2707T Reddy_2788T Reddy_2790T Reddy_2792T Reddy_2830T Reddy_2834T Reddy_2840T Reddy_2871T Reddy_2921T Reddy_2922T Reddy_2931T Reddy_2933T Reddy_2955T Reddy_3385T Reddy_3423T Reddy_3455T Reddy_3461T Reddy_3462T Reddy_3529T Reddy_3532T Reddy_3545T Reddy_3582T Reddy_3607T Reddy_3609T Reddy_3610T Reddy_3613T Reddy_3620T Reddy_3627T Reddy_3631T Reddy_3647T Reddy_3665T Reddy_3675T Reddy_3682T Reddy_3701T Reddy_3716T Reddy_3724T Reddy_3732T Reddy_3740T Reddy_3742T Reddy_3756T Reddy_3781T Reddy_3837T Reddy_3852T Reddy_3867T Reddy_3893T Reddy_3905T Reddy_3916T Reddy_3930T Reddy_3932T Reddy_3980T Reddy_3990T Reddy_3998T Reddy_790T