Tissue | Expression Dynamics | Abbreviation |
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 |
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 |
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:009010916 | Oral cavity | OSCC | regulation of cell-substrate junction assembly | 43/7305 | 66/18723 | 1.52e-05 | 1.52e-04 | 43 |
GO:003011110 | Oral cavity | OSCC | regulation of Wnt signaling pathway | 165/7305 | 328/18723 | 1.87e-05 | 1.80e-04 | 165 |
GO:001081120 | Oral cavity | OSCC | positive regulation of cell-substrate adhesion | 71/7305 | 123/18723 | 1.96e-05 | 1.87e-04 | 71 |
GO:00454448 | Oral cavity | OSCC | fat cell differentiation | 120/7305 | 229/18723 | 2.48e-05 | 2.32e-04 | 120 |
GO:00510917 | Oral cavity | OSCC | positive regulation of DNA-binding transcription factor activity | 134/7305 | 260/18723 | 2.52e-05 | 2.35e-04 | 134 |
GO:015011617 | Oral cavity | OSCC | regulation of cell-substrate junction organization | 45/7305 | 71/18723 | 2.76e-05 | 2.56e-04 | 45 |
GO:005067310 | Oral cavity | OSCC | epithelial cell proliferation | 212/7305 | 437/18723 | 2.82e-05 | 2.61e-04 | 212 |
GO:00303084 | Oral cavity | OSCC | negative regulation of cell growth | 101/7305 | 188/18723 | 2.85e-05 | 2.63e-04 | 101 |
GO:00107183 | Oral cavity | OSCC | positive regulation of epithelial to mesenchymal transition | 35/7305 | 52/18723 | 3.34e-05 | 3.00e-04 | 35 |
GO:00902639 | Oral cavity | OSCC | positive regulation of canonical Wnt signaling pathway | 62/7305 | 106/18723 | 3.72e-05 | 3.31e-04 | 62 |
GO:00423078 | Oral cavity | OSCC | positive regulation of protein import into nucleus | 29/7305 | 41/18723 | 3.81e-05 | 3.37e-04 | 29 |
GO:005101720 | Oral cavity | OSCC | actin filament bundle assembly | 86/7305 | 157/18723 | 4.28e-05 | 3.70e-04 | 86 |
GO:00455983 | Oral cavity | OSCC | regulation of fat cell differentiation | 77/7305 | 139/18723 | 6.36e-05 | 5.18e-04 | 77 |
GO:00072548 | Oral cavity | OSCC | JNK cascade | 90/7305 | 167/18723 | 6.49e-05 | 5.26e-04 | 90 |
GO:00074925 | Oral cavity | OSCC | endoderm development | 47/7305 | 77/18723 | 7.40e-05 | 5.81e-04 | 47 |
GO:006157220 | Oral cavity | OSCC | actin filament bundle organization | 87/7305 | 161/18723 | 7.49e-05 | 5.84e-04 | 87 |
GO:000164910 | Oral cavity | OSCC | osteoblast differentiation | 118/7305 | 229/18723 | 7.51e-05 | 5.85e-04 | 118 |
GO:006082810 | Oral cavity | OSCC | regulation of canonical Wnt signaling pathway | 128/7305 | 253/18723 | 1.11e-04 | 8.16e-04 | 128 |
GO:00170155 | Oral cavity | OSCC | regulation of transforming growth factor beta receptor signaling pathway | 71/7305 | 128/18723 | 1.14e-04 | 8.34e-04 | 71 |
GO:000195416 | Oral cavity | OSCC | positive regulation of cell-matrix adhesion | 37/7305 | 58/18723 | 1.15e-04 | 8.35e-04 | 37 |
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 |
SMAD3 | SNV | Missense_Mutation | novel | c.1094N>C | p.Gln365Pro | p.Q365P | P84022 | protein_coding | deleterious(0.01) | possibly_damaging(0.882) | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
SMAD3 | SNV | Missense_Mutation | rs779602560 | c.1145C>T | p.Ala382Val | p.A382V | P84022 | protein_coding | deleterious(0.04) | benign(0.167) | TCGA-A2-A0T6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SMAD3 | SNV | Missense_Mutation | rs863223765 | c.278N>A | p.Arg93Gln | p.R93Q | P84022 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A152-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | PD |
SMAD3 | SNV | Missense_Mutation | novel | c.611N>A | p.Ser204Tyr | p.S204Y | P84022 | protein_coding | tolerated(0.09) | benign(0) | TCGA-E9-A244-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SMAD3 | SNV | Missense_Mutation | | c.68N>G | p.Gln23Arg | p.Q23R | P84022 | protein_coding | deleterious(0.01) | benign(0.091) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
SMAD3 | insertion | Nonsense_Mutation | novel | c.263_264insTCTCTACTAAAAATACAAAAACAAAATTAG | p.Tyr88_Cys89insLeuTyrTerLysTyrLysAsnLysIleSer | p.Y88_C89insLY*KYKNKIS | P84022 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
SMAD3 | SNV | Missense_Mutation | rs863223736 | c.728N>A | p.Arg243His | p.R243H | P84022 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SMAD3 | SNV | Missense_Mutation | rs773543026 | c.730G>A | p.Val244Ile | p.V244I | P84022 | protein_coding | tolerated(0.12) | benign(0.395) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SMAD3 | SNV | Missense_Mutation | rs387906850 | c.859C>T | p.Arg287Trp | p.R287W | P84022 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SMAD3 | SNV | Missense_Mutation | | c.384G>C | p.Gln128His | p.Q128H | P84022 | protein_coding | deleterious(0.02) | possibly_damaging(0.528) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | GNF-PF-1295 | CHEMBL579837 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | HELENALIN | HELENALIN | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | TRICLOCARBAN | TRICLOCARBAN | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | DNDI1417601 | CHEMBL1503729 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | CID 663143 | CHEMBL1342336 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | BISINDOLYLMALEIMIDE IX | BISINDOLYLMALEIMIDE IX | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | MITOXANTRONE | MITOXANTRONE | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | NSC-724440 | CHEMBL515617 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | GNF-PF-1134 | CHEMBL600694 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | AZACITIDINE | AZACITIDINE | |