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rdmorin edited this page Jul 4, 2024 · 21 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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
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Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene
PMBL 1 high-confidence PMBL/cHL/GZL gene[@ritzRecurrentMutationsSTAT62009a]
DLBCL 1 high-confidence DLBCL gene [@yildizActivatingSTAT6Mutations2015c]
FL 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

References

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