Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa049616 | Colorectum | FAP | Endocrine and other factor-regulated calcium reabsorption | 18/1404 | 53/8465 | 1.52e-03 | 7.94e-03 | 4.83e-03 | 18 |
hsa049286 | Colorectum | FAP | Parathyroid hormone synthesis, secretion and action | 29/1404 | 106/8465 | 3.37e-03 | 1.44e-02 | 8.77e-03 | 29 |
hsa047286 | Colorectum | FAP | Dopaminergic synapse | 34/1404 | 132/8465 | 4.59e-03 | 1.89e-02 | 1.15e-02 | 34 |
hsa04611 | Colorectum | FAP | Platelet activation | 32/1404 | 124/8465 | 5.67e-03 | 2.18e-02 | 1.32e-02 | 32 |
hsa04261 | Colorectum | FAP | Adrenergic signaling in cardiomyocytes | 38/1404 | 154/8465 | 6.16e-03 | 2.34e-02 | 1.42e-02 | 38 |
hsa04976 | Colorectum | FAP | Bile secretion | 24/1404 | 89/8465 | 8.76e-03 | 3.21e-02 | 1.96e-02 | 24 |
hsa04024 | Colorectum | FAP | cAMP signaling pathway | 51/1404 | 225/8465 | 1.02e-02 | 3.68e-02 | 2.24e-02 | 51 |
hsa04270 | Colorectum | FAP | Vascular smooth muscle contraction | 33/1404 | 134/8465 | 1.05e-02 | 3.74e-02 | 2.28e-02 | 33 |
hsa04911 | Colorectum | FAP | Insulin secretion | 23/1404 | 86/8465 | 1.12e-02 | 3.92e-02 | 2.38e-02 | 23 |
hsa04970 | Colorectum | FAP | Salivary secretion | 24/1404 | 93/8465 | 1.52e-02 | 4.99e-02 | 3.03e-02 | 24 |
hsa04925 | Colorectum | FAP | Aldosterone synthesis and secretion | 25/1404 | 98/8465 | 1.55e-02 | 4.99e-02 | 3.04e-02 | 25 |
hsa050129 | Colorectum | FAP | Parkinson disease | 80/1404 | 266/8465 | 2.04e-08 | 6.20e-07 | 3.77e-07 | 80 |
hsa047149 | Colorectum | FAP | Thermogenesis | 70/1404 | 232/8465 | 1.38e-07 | 3.08e-06 | 1.87e-06 | 70 |
hsa049727 | Colorectum | FAP | Pancreatic secretion | 34/1404 | 102/8465 | 2.43e-05 | 2.78e-04 | 1.69e-04 | 34 |
hsa051109 | Colorectum | FAP | Vibrio cholerae infection | 19/1404 | 50/8465 | 2.24e-04 | 1.92e-03 | 1.17e-03 | 19 |
hsa049227 | Colorectum | FAP | Glucagon signaling pathway | 32/1404 | 107/8465 | 4.08e-04 | 3.10e-03 | 1.89e-03 | 32 |
hsa040157 | Colorectum | FAP | Rap1 signaling pathway | 53/1404 | 210/8465 | 7.93e-04 | 5.14e-03 | 3.13e-03 | 53 |
hsa049353 | Colorectum | FAP | Growth hormone synthesis, secretion and action | 34/1404 | 120/8465 | 8.12e-04 | 5.14e-03 | 3.13e-03 | 34 |
hsa049127 | Colorectum | FAP | GnRH signaling pathway | 28/1404 | 93/8465 | 8.16e-04 | 5.14e-03 | 3.13e-03 | 28 |
hsa049717 | Colorectum | FAP | Gastric acid secretion | 24/1404 | 76/8465 | 8.95e-04 | 5.20e-03 | 3.16e-03 | 24 |
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 |
GNAS | SNV | Missense_Mutation | rs11554273 | c.2530C>T | p.Arg844Cys | p.R844C | Q5JWF2 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-A8-A09T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
GNAS | SNV | Missense_Mutation | | c.437N>A | p.Gly146Asp | p.G146D | Q5JWF2 | protein_coding | tolerated_low_confidence(0.09) | benign(0.003) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GNAS | SNV | Missense_Mutation | | c.964C>G | p.Pro322Ala | p.P322A | Q5JWF2 | protein_coding | tolerated_low_confidence(0.08) | benign(0.013) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GNAS | SNV | Missense_Mutation | | c.3094N>T | p.Arg1032Cys | p.R1032C | Q5JWF2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GNAS | SNV | Missense_Mutation | | c.2782A>G | p.Ile928Val | p.I928V | Q5JWF2 | protein_coding | deleterious(0.04) | probably_damaging(0.935) | TCGA-AR-A1AW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
GNAS | SNV | Missense_Mutation | | c.1004C>T | p.Pro335Leu | p.P335L | Q5JWF2 | protein_coding | deleterious_low_confidence(0.03) | benign(0.02) | TCGA-E2-A570-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
GNAS | SNV | Missense_Mutation | | c.3057C>G | p.Phe1019Leu | p.F1019L | Q5JWF2 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
GNAS | SNV | Missense_Mutation | | c.513G>C | p.Gln171His | p.Q171H | Q5JWF2 | protein_coding | deleterious_low_confidence(0.04) | benign(0.01) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
GNAS | insertion | Frame_Shift_Ins | novel | c.2106_2107insA | p.Met703AsnfsTer7 | p.M703Nfs*7 | Q5JWF2 | protein_coding | | | TCGA-AN-A0FF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GNAS | insertion | Frame_Shift_Ins | novel | c.1827dupC | p.Asn610GlnfsTer15 | p.N610Qfs*15 | Q5JWF2 | protein_coding | | | TCGA-AO-A1KT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | GARCINONE E | GARCINONE E | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | BAS 01152706 | CHEMBL2002487 | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | N-(3,4-DICHLOROPHENYL)BENZAMIDE | CHEMBL560296 | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | TETRAETHYLAMMONIUM CHLORIDE | TETRAETHYLAMMONIUM CHLORIDE | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | TCMDC-125620 | CHEMBL530291 | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | CISPLATIN | CISPLATIN | 19274060 |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | TCMDC-124353 | CHEMBL529918 | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | FLUOROURACIL | FLUOROURACIL | 19274060 |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | NICLOSAMIDE | NICLOSAMIDE | |
2778 | GNAS | DRUGGABLE GENOME, CLINICALLY ACTIONABLE, G PROTEIN COUPLED RECEPTOR, DRUG RESISTANCE, TRANSPORTER | | 9,10-PHENANTHRENEQUINONE | 9,10-PHENANTHRENEQUINONE | |