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
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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 |
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Expression
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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.


