SGK1

Relevance tier by entity

Entity Tier Description
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous
DLBCL 1-a aSHM target and high-confidence DLBCL gene
FL 1-a aSHM target and high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 2.08
BL Thomas cohort 2.50
BL Panea cohort 4.00
DLBCL GAMBL genomes 11.09
DLBCL Schmitz cohort 10.64
DLBCL Reddy cohort 11.21
DLBCL Chapuy cohort 12.82
FL GAMBL genomes 6.00

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 5.451 7.487
DLBCL Yes Yes 6.056 13.755
FL Yes Yes 23.198 134.356

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr6 134487960 134499859 TSS-1 active_promoter

[!NOTE] First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD

View coding variants in ProteinPaint hg19 or hg38

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View all variants in GenomePaint hg19 or hg38

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References

  1. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.

SGK1 Expression

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