Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
GO:20001169 | Breast | Precancer | regulation of cysteine-type endopeptidase activity | 43/1080 | 235/18723 | 1.30e-11 | 1.83e-09 | 43 |
GO:00458619 | Breast | Precancer | negative regulation of proteolysis | 50/1080 | 351/18723 | 2.99e-09 | 2.39e-07 | 50 |
GO:00513468 | Breast | Precancer | negative regulation of hydrolase activity | 50/1080 | 379/18723 | 3.85e-08 | 2.34e-06 | 50 |
GO:00104668 | Breast | Precancer | negative regulation of peptidase activity | 38/1080 | 262/18723 | 1.46e-07 | 7.82e-06 | 38 |
GO:00109519 | Breast | Precancer | negative regulation of endopeptidase activity | 37/1080 | 252/18723 | 1.55e-07 | 8.05e-06 | 37 |
GO:20001179 | Breast | Precancer | negative regulation of cysteine-type endopeptidase activity | 19/1080 | 86/18723 | 3.36e-07 | 1.58e-05 | 19 |
GO:19040193 | Breast | Precancer | epithelial cell apoptotic process | 17/1080 | 121/18723 | 5.76e-04 | 7.28e-03 | 17 |
GO:19040351 | Breast | Precancer | regulation of epithelial cell apoptotic process | 14/1080 | 96/18723 | 1.18e-03 | 1.28e-02 | 14 |
GO:00516047 | Breast | Precancer | protein maturation | 28/1080 | 294/18723 | 6.45e-03 | 4.50e-02 | 28 |
GO:005254714 | Breast | IDC | regulation of peptidase activity | 96/1434 | 461/18723 | 7.58e-20 | 6.15e-17 | 96 |
GO:005254814 | Breast | IDC | regulation of endopeptidase activity | 88/1434 | 432/18723 | 1.20e-17 | 4.85e-15 | 88 |
GO:200011614 | Breast | IDC | regulation of cysteine-type endopeptidase activity | 55/1434 | 235/18723 | 4.25e-14 | 1.21e-11 | 55 |
GO:004586114 | Breast | IDC | negative regulation of proteolysis | 70/1434 | 351/18723 | 8.21e-14 | 2.22e-11 | 70 |
GO:005134613 | Breast | IDC | negative regulation of hydrolase activity | 71/1434 | 379/18723 | 1.33e-12 | 2.90e-10 | 71 |
GO:001046613 | Breast | IDC | negative regulation of peptidase activity | 56/1434 | 262/18723 | 1.39e-12 | 2.92e-10 | 56 |
GO:001095112 | Breast | IDC | negative regulation of endopeptidase activity | 52/1434 | 252/18723 | 3.53e-11 | 5.57e-09 | 52 |
GO:200011713 | Breast | IDC | negative regulation of cysteine-type endopeptidase activity | 25/1434 | 86/18723 | 3.31e-09 | 2.77e-07 | 25 |
GO:005160413 | Breast | IDC | protein maturation | 35/1434 | 294/18723 | 6.18e-03 | 4.40e-02 | 35 |
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 |
CAST | SNV | Missense_Mutation | rs145309877 | c.1232T>C | p.Ile411Thr | p.I411T | P20810 | protein_coding | deleterious(0.01) | possibly_damaging(0.823) | TCGA-3C-AALK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
CAST | SNV | Missense_Mutation | novel | c.1102N>A | p.Glu368Lys | p.E368K | P20810 | protein_coding | tolerated(1) | benign(0.023) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
CAST | SNV | Missense_Mutation | novel | c.1522G>C | p.Asp508His | p.D508H | P20810 | protein_coding | tolerated(0.1) | probably_damaging(0.967) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
CAST | SNV | Missense_Mutation | | c.1363T>A | p.Cys455Ser | p.C455S | P20810 | protein_coding | tolerated(0.13) | probably_damaging(0.998) | TCGA-C8-A12Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CAST | SNV | Missense_Mutation | rs369732336 | c.925N>T | p.Thr309Ser | p.T309S | P20810 | protein_coding | tolerated(0.44) | benign(0.029) | TCGA-E2-A15O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | PD |
CAST | SNV | Missense_Mutation | novel | c.1417N>T | p.Asp473Tyr | p.D473Y | P20810 | protein_coding | deleterious(0) | probably_damaging(0.926) | TCGA-GM-A2DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
CAST | insertion | Frame_Shift_Ins | novel | c.1688_1689insAAGGCAAAAGTCAGTCATGAGGGAAACAGGTGATCCAAGT | p.Pro564ArgfsTer21 | p.P564Rfs*21 | P20810 | protein_coding | | | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
CAST | SNV | Missense_Mutation | novel | c.408G>T | p.Glu136Asp | p.E136D | P20810 | protein_coding | tolerated(0.09) | possibly_damaging(0.547) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CAST | SNV | Missense_Mutation | | c.488C>T | p.Ser163Phe | p.S163F | P20810 | protein_coding | deleterious(0) | possibly_damaging(0.704) | TCGA-EK-A3GJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CAST | SNV | Missense_Mutation | novel | c.365N>C | p.Asn122Thr | p.N122T | P20810 | protein_coding | tolerated(0.34) | benign(0.117) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |