Table of Contents

Experimental Evidence

Driver mutations affecting this gene in FL have been experimentally demonstrated to cause a gain of function (GOF).dheillyCathepsinRegulatesAntigen2020?

Relevance tier by entity

Entity Tier Description
FL 1 High-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 11 0.0101 [0.0042,0.016]
DLBCL GAMBL with Reddy 2,088 22 0.0105 [0.0062,0.0149]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 0 0.0003 [0,0.0024]
DLBCL NCI 470 7 0.0149 [0.0039,0.0258]
DLBCL Reddy 999 11 0.0110 [0.0045,0.0175]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 21 0.0327 [0.019,0.0465]
FL GAMBL with Crouch 1,189 21 0.0177 [0.0102,0.0251]
FL BC 379 16 0.0422 [0.022,0.0625]
FL Kalmbach 164 2 0.0122 [0,0.029]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 3 0.0303 [0,0.0641]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.0000 0.0000 1.0000
FL 23.2540 8.4219 0.0000
DLBCL 0.9995 1.8618 0.9986

CTSS Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 150727482 A>C Y132D
chr1 150727482 A>T Y132N

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2020-05-05 : Bararia : FL

References

1.
Bararia D, Hildebrand JA, Stolz S, Haebe S, Alig S, Trevisani CP, Osorio-Barrios F, Bartoschek MD, Mentz M, Pastore A, Gaitzsch E, Heide M, Jurinovic V, Rautter K, Gunawardana J, Sabdia MB, Szczepanowski M, Richter J, Klapper W, Louissaint A, Ludwig C, Bultmann S, Leonhardt H, Eustermann S, Hopfner KP, Hiddemann W, von Bergwelt-Baildon M, Steidl C, Kridel R, Tobin JWD, Gandhi MK, Weinstock DM, Schmidt-Supprian M, Sárosi MB, Rudelius M, Passerini V, Mautner J, Weigert O. Cathepsin S Alterations Induce a Tumor-Promoting Immune Microenvironment in Follicular Lymphoma. Cell Rep. 2020 May 5;31(5):107522.

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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