WNK1 - morinlab/LLMPP GitHub Wiki

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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
MZL 2 relevance in MZL not firmly established[@jalladesExomeSequencingIdentifies2017]
BL 1 high-confidence BL gene [@thomasGeneticSubgroupsInform2023]
DLBCL 2 relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b]

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

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