STAT6 - morinlab/LLMPP GitHub Wiki
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STAT6
Overview
The STAT6 gene, which encodes a transcription factor involved in the JAK-STAT signaling pathway, plays a significant role in the pathogenesis of various lymphomas, including diffuse large B-cell lymphoma (DLBCL). Below is a summary of the common mutations in the STAT6 gene identified in DLBCL. Mutations in the DNA binding domain of STAT6 are common in PMBCL and more rare in DLBCL.
Experimental Evidence
Driver mutations affecting this gene in DLBCL/FL have been experimentally demonstrated to cause a gain of function (GOF).[@mentzPARP14NovelTarget2022]
Relevance tier by entity
include:tables/table1_STAT6.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
STAT6 Hotspots
Recurrent mutations at the D419 amino acid residue are a common feature in DLBCL, specifically affecting the germinal center B (GCB) cell subtype. These mutations lead to the activation of the JAK/STAT signaling pathway, contributing to lymphomagenesis [@morinGeneticLandscapesRelapsed2016].
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 57496671 | C>G | G416R |
| chr12 | 57496666 | G>T | N417K |
| chr12 | 57496662 | C>T | D419N |
| chr12 | 57496662 | C>G | D419H |
| chr12 | 57496662 | C>A | D419Y |
| chr12 | 57496661 | T>G | D419A |
| chr12 | 57496661 | T>C | D419G |
| chr12 | 57496661 | T>A | D419V |
| chr12 | 57496658 | T>G | N420T |
| chr12 | 57496658 | T>C | N420S |
| chr12 | 57496656 | T>C | N421D |
| chr12 | 57496654 | A>C | N421K |
include:tables/browser_STAT6.md
Expression
include:tables/mermaid_STAT6.md