Table of Contents

Experimental Evidence

Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a gain of function (GOF).1

Relevance tier by entity

Cannot include /table1_SGK1.md - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 124 0.1139 [0.095,0.1327]
DLBCL GAMBL with Reddy 2,088 236 0.1130 [0.0994,0.1266]
DLBCL BC 231 20 0.0866 [0.0503,0.1228]
DLBCL Dana-Farber 303 39 0.1287 [0.091,0.1664]
DLBCL NCI 470 50 0.1064 [0.0785,0.1343]
DLBCL Reddy 999 112 0.1121 [0.0925,0.1317]
DLBCL DLBCL_ICGC 85 15 0.1765 [0.0954,0.2575]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 37 0.0576 [0.0396,0.0757]
FL GAMBL with Crouch 1,189 73 0.0614 [0.0478,0.075]
FL BC 379 21 0.0554 [0.0324,0.0784]
FL Kalmbach 164 12 0.0732 [0.0333,0.113]
FL Crouch 547 36 0.0658 [0.045,0.0866]
FL FL_ICGC 99 4 0.0404 [0.0016,0.0792]

Mutation pattern and selective pressure estimates

Failed to render page: conflicting chdir during another chdir block

aSHM regions

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

Expression

Cannot include /browser_SGK1.md - does not exist yet

References

1.
Gao J, Sidiropoulou E, Walker I, Krupka JA, Mizielinski K, Usheva Z, Samarajiwa SA, Hodson DJ. SGK1 mutations in DLBCL generate hyperstable protein neoisoforms that promote AKT independence. Blood. 2021 Sep 16;138(11):959–964. PMCID: PMC8701626
2.
Duns G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW, Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage KJ, Scott DW, Steidl C. Characterization of DLBCL with a PMBL gene expression signature. Blood. 2021 Jul 15;138(2):136–148.
3.
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 SJM, 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. PMCID: PMC3210554
4.
Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
5.
Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proceedings of the National Academy of Sciences of the United States of America. 2013;110:1398–1403. PMCID: PMC3557051

Failed to render page: conflicting chdir during another chdir block