Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0045861 | Colorectum | AD | negative regulation of proteolysis | 106/3918 | 351/18723 | 2.33e-05 | 4.57e-04 | 106 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
GO:00458611 | Colorectum | SER | negative regulation of proteolysis | 88/2897 | 351/18723 | 1.74e-06 | 7.50e-05 | 88 |
GO:00525481 | Colorectum | SER | regulation of endopeptidase activity | 103/2897 | 432/18723 | 2.86e-06 | 1.16e-04 | 103 |
GO:0051346 | Colorectum | SER | negative regulation of hydrolase activity | 82/2897 | 379/18723 | 8.19e-04 | 1.01e-02 | 82 |
GO:0010466 | Colorectum | SER | negative regulation of peptidase activity | 57/2897 | 262/18723 | 4.15e-03 | 3.38e-02 | 57 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
GO:00458612 | Colorectum | MSS | negative regulation of proteolysis | 97/3467 | 351/18723 | 1.57e-05 | 3.54e-04 | 97 |
GO:00513461 | Colorectum | MSS | negative regulation of hydrolase activity | 92/3467 | 379/18723 | 2.85e-03 | 2.22e-02 | 92 |
GO:00458613 | Colorectum | MSI-H | negative regulation of proteolysis | 55/1319 | 351/18723 | 1.75e-08 | 1.98e-06 | 55 |
GO:00525473 | Colorectum | MSI-H | regulation of peptidase activity | 66/1319 | 461/18723 | 2.63e-08 | 2.81e-06 | 66 |
GO:00525483 | Colorectum | MSI-H | regulation of endopeptidase activity | 60/1319 | 432/18723 | 3.29e-07 | 2.57e-05 | 60 |
GO:00513462 | Colorectum | MSI-H | negative regulation of hydrolase activity | 48/1319 | 379/18723 | 5.58e-05 | 1.92e-03 | 48 |
GO:00104661 | Colorectum | MSI-H | negative regulation of peptidase activity | 35/1319 | 262/18723 | 1.95e-04 | 5.30e-03 | 35 |
GO:0010951 | Colorectum | MSI-H | negative regulation of endopeptidase activity | 33/1319 | 252/18723 | 4.22e-04 | 9.23e-03 | 33 |
GO:00525474 | Colorectum | FAP | regulation of peptidase activity | 86/2622 | 461/18723 | 2.98e-03 | 2.27e-02 | 86 |
GO:00458614 | Colorectum | FAP | negative regulation of proteolysis | 68/2622 | 351/18723 | 3.07e-03 | 2.31e-02 | 68 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
APLP2 | SNV | Missense_Mutation | novel | c.1678N>A | p.Glu560Lys | p.E560K | Q06481 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
APLP2 | SNV | Missense_Mutation | | c.992N>G | p.Ser331Cys | p.S331C | Q06481 | protein_coding | tolerated(0.08) | possibly_damaging(0.806) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
APLP2 | insertion | In_Frame_Ins | novel | c.897_898insCTGGCT | p.Asp299_Lys300insLeuAla | p.D299_K300insLA | Q06481 | protein_coding | | | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
APLP2 | insertion | In_Frame_Ins | novel | c.899_900insCAT | p.Lys300delinsAsnMet | p.K300delinsNM | Q06481 | protein_coding | | | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
APLP2 | insertion | Frame_Shift_Ins | novel | c.887_888insTGCTAAACCATTTGAAAGTAAGTTGGGATATCACGACAGTT | p.Met297AlafsTer33 | p.M297Afs*33 | Q06481 | protein_coding | | | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
APLP2 | insertion | Frame_Shift_Ins | novel | c.1651_1652insTTCGCTCAAGTGATCCTGCTGT | p.Pro551LeufsTer19 | p.P551Lfs*19 | Q06481 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APLP2 | insertion | In_Frame_Ins | novel | c.1084_1085insTTCTGCTAGAGTTGATTAAGCTTGCATTTCATT | p.Ala362delinsValLeuLeuGluLeuIleLysLeuAlaPheHisSer | p.A362delinsVLLELIKLAFHS | Q06481 | protein_coding | | | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APLP2 | deletion | Frame_Shift_Del | | c.1613delN | p.Arg539GlyfsTer15 | p.R539Gfs*15 | Q06481 | protein_coding | | | TCGA-AR-A0TR-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
APLP2 | insertion | Frame_Shift_Ins | novel | c.1866_1867insA | p.Gly625ArgfsTer20 | p.G625Rfs*20 | Q06481 | protein_coding | | | TCGA-C8-A12X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APLP2 | SNV | Missense_Mutation | rs141638912 | c.974N>A | p.Arg325His | p.R325H | Q06481 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |