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:200011719 | Oral cavity | LP | negative regulation of cysteine-type endopeptidase activity | 46/4623 | 86/18723 | 9.22e-09 | 3.61e-07 | 46 |
GO:0045861110 | Oral cavity | LP | negative regulation of proteolysis | 122/4623 | 351/18723 | 1.32e-05 | 2.34e-04 | 122 |
GO:001648513 | Oral cavity | LP | protein processing | 83/4623 | 225/18723 | 2.87e-05 | 4.52e-04 | 83 |
GO:190331711 | Oral cavity | LP | regulation of protein maturation | 29/4623 | 67/18723 | 6.51e-04 | 5.90e-03 | 29 |
GO:007061311 | Oral cavity | LP | regulation of protein processing | 28/4623 | 65/18723 | 8.77e-04 | 7.59e-03 | 28 |
GO:001046619 | Oral cavity | LP | negative regulation of peptidase activity | 87/4623 | 262/18723 | 1.12e-03 | 9.19e-03 | 87 |
GO:005134619 | Oral cavity | LP | negative regulation of hydrolase activity | 120/4623 | 379/18723 | 1.16e-03 | 9.48e-03 | 120 |
GO:00109551 | Oral cavity | LP | negative regulation of protein processing | 15/4623 | 29/18723 | 1.55e-03 | 1.20e-02 | 15 |
GO:19033181 | Oral cavity | LP | negative regulation of protein maturation | 15/4623 | 29/18723 | 1.55e-03 | 1.20e-02 | 15 |
GO:001095118 | Oral cavity | LP | negative regulation of endopeptidase activity | 83/4623 | 252/18723 | 1.86e-03 | 1.39e-02 | 83 |
GO:005254733 | Oral cavity | NEOLP | regulation of peptidase activity | 98/2005 | 461/18723 | 1.77e-11 | 2.56e-09 | 98 |
GO:004586133 | Oral cavity | NEOLP | negative regulation of proteolysis | 76/2005 | 351/18723 | 1.40e-09 | 9.80e-08 | 76 |
GO:005254833 | Oral cavity | NEOLP | regulation of endopeptidase activity | 88/2005 | 432/18723 | 1.82e-09 | 1.18e-07 | 88 |
GO:200011632 | Oral cavity | NEOLP | regulation of cysteine-type endopeptidase activity | 55/2005 | 235/18723 | 1.59e-08 | 7.25e-07 | 55 |
GO:200011732 | Oral cavity | NEOLP | negative regulation of cysteine-type endopeptidase activity | 28/2005 | 86/18723 | 3.84e-08 | 1.60e-06 | 28 |
GO:005134631 | Oral cavity | NEOLP | negative regulation of hydrolase activity | 75/2005 | 379/18723 | 9.98e-08 | 3.66e-06 | 75 |
GO:001046632 | Oral cavity | NEOLP | negative regulation of peptidase activity | 57/2005 | 262/18723 | 1.32e-07 | 4.65e-06 | 57 |
GO:001095132 | Oral cavity | NEOLP | negative regulation of endopeptidase activity | 55/2005 | 252/18723 | 1.94e-07 | 6.52e-06 | 55 |
GO:005160432 | Oral cavity | NEOLP | protein maturation | 50/2005 | 294/18723 | 6.46e-04 | 5.47e-03 | 50 |
GO:001648521 | Oral cavity | NEOLP | protein processing | 39/2005 | 225/18723 | 1.68e-03 | 1.17e-02 | 39 |
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 |