WNK1
History
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timeline
title Publication timing
2017-07-27 : Jallades : MZL
2021-05-05 : Hübschmann : DLBCL
2023-02-03 : Thomas : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in MZL not firmly established1 | |
| 1 | high-confidence BL gene2 | |
| 2 | relevance in DLBCL not firmly establishedhubschmannMutationalMechanismsShaping2021b? |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 6.70 |
| BL | Thomas cohort | 6.80 |
| BL | Panea cohort | 11.90 |
| DLBCL | GAMBL genomes | 4.59 |
| DLBCL | Schmitz cohort | 5.11 |
| DLBCL | Reddy cohort | 3.70 |
| DLBCL | Chapuy cohort | 2.14 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.429 | 0 |
| DLBCL | No | No | 1.812 | 0 |
| FL | No | No | 3.487 | 0 |
WNK1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 968467 | G>A | R486Q |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
WNK1 Expression
All Mutations
DLBCL2
SP192988 SP193025 SP193684 SP194228 SP59344 SP59452
References
1.
Jallades L, Baseggio L, Sujobert P, Huet S,
Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado
D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles
G, Traverse-Glehen A. Exome sequencing identifies recurrent
BCOR alterations and the absence of KLF2,
TNFAIP3 and MYD88 mutations in splenic diffuse
red pulp small B-cell lymphoma.
Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860
2.
Thomas N, Dreval K, Gerhard DS, Hilton LK,
Abramson JS, Ambinder RF, Barta S, Bartlett NL, Bethony J, Bhatia K,
Bowen J, Bryan AC, Cesarman E, Casper C, Chadburn A, Cruz M, Dittmer DP,
Dyer MA, Farinha P, Gastier-Foster JM, Gerrie AS, Grande BM, Greiner T,
Griner NB, Gross TG, Harris NL, Irvin JD, Jaffe ES, Henry D, Huppi R,
Leal FE, Lee MS, Martin JP, Martin MR, Mbulaiteye SM, Mitsuyasu R,
Morris V, Mullighan CG, Mungall AJ, Mungall K, Mutyaba I, Nokta M,
Namirembe C, Noy A, Ogwang MD, Omoding A, Orem J, Ott G, Petrello H,
Pittaluga S, Phelan JD, Ramos JC, Ratner L, Reynolds SJ, Rubinstein PG,
Sissolak G, Slack G, Soudi S, Swerdlow SH, Traverse-Glehen A, Wilson WH,
Wong J, Yarchoan R, ZenKlusen JC, Marra MA, Staudt LM, Scott DW, Morin
RD. Genetic subgroups inform on pathobiology in adult and pediatric
Burkitt lymphoma. Blood. 2023 Feb 23;141(8):904–916. PMCID:
PMC10023728


