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.
History
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timeline
title Publication timing
2009-08-06 : Ritz : PMBL
2015-01-22 : Yildiz : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2021-05-05 : Hubschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene |
 |
1 | high-confidence PMBL/cHL/GZL gene[@ritzRecurrentMutationsSTAT62009a] |
 |
1 | high-confidence DLBCL gene [@yildizActivatingSTAT6Mutations2015c] |
 |
1 | high-confidence FL gene [@yildizActivatingSTAT6Mutations2015c] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.74 |
| DLBCL | Schmitz cohort | 2.55 |
| DLBCL | Reddy cohort | 3.80 |
| DLBCL | Chapuy cohort | 4.70 |
| FL | GAMBL genomes | 15.94 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.301 | 0 |
| DLBCL | No | No | 11.582 | 0 |
| FL | No | Yes | 116.612 | 0 |
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 (Morin et al., 2015).
| 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
STAT6 Expression
