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:004217610 | Cervix | CC | regulation of protein catabolic process | 104/2311 | 391/18723 | 9.39e-15 | 9.36e-12 | 104 |
GO:004206010 | Cervix | CC | wound healing | 109/2311 | 422/18723 | 1.84e-14 | 1.57e-11 | 109 |
GO:001081010 | Cervix | CC | regulation of cell-substrate adhesion | 69/2311 | 221/18723 | 8.57e-14 | 5.69e-11 | 69 |
GO:00315898 | Cervix | CC | cell-substrate adhesion | 96/2311 | 363/18723 | 1.48e-13 | 8.85e-11 | 96 |
GO:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
GO:005254710 | Cervix | CC | regulation of peptidase activity | 112/2311 | 461/18723 | 6.70e-13 | 3.08e-10 | 112 |
GO:004586210 | Cervix | CC | positive regulation of proteolysis | 95/2311 | 372/18723 | 1.84e-12 | 6.86e-10 | 95 |
GO:005254810 | Cervix | CC | regulation of endopeptidase activity | 103/2311 | 432/18723 | 1.89e-11 | 5.14e-09 | 103 |
GO:003297010 | Cervix | CC | regulation of actin filament-based process | 96/2311 | 397/18723 | 4.00e-11 | 8.54e-09 | 96 |
GO:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:190290310 | Cervix | CC | regulation of supramolecular fiber organization | 92/2311 | 383/18723 | 1.49e-10 | 2.48e-08 | 92 |
GO:004578510 | Cervix | CC | positive regulation of cell adhesion | 101/2311 | 437/18723 | 1.96e-10 | 3.08e-08 | 101 |
GO:190382910 | Cervix | CC | positive regulation of cellular protein localization | 72/2311 | 276/18723 | 3.20e-10 | 4.46e-08 | 72 |
GO:01501159 | Cervix | CC | cell-substrate junction organization | 37/2311 | 101/18723 | 3.20e-10 | 4.46e-08 | 37 |
GO:003295610 | Cervix | CC | regulation of actin cytoskeleton organization | 86/2311 | 358/18723 | 5.90e-10 | 7.51e-08 | 86 |
GO:00421108 | Cervix | CC | T cell activation | 107/2311 | 487/18723 | 1.24e-09 | 1.46e-07 | 107 |
GO:00506737 | Cervix | CC | epithelial cell proliferation | 98/2311 | 437/18723 | 2.01e-09 | 2.15e-07 | 98 |
GO:00070448 | Cervix | CC | cell-substrate junction assembly | 34/2311 | 95/18723 | 3.35e-09 | 3.45e-07 | 34 |
GO:00160557 | Cervix | CC | Wnt signaling pathway | 98/2311 | 444/18723 | 4.82e-09 | 4.65e-07 | 98 |
GO:00321035 | Cervix | CC | positive regulation of response to external stimulus | 95/2311 | 427/18723 | 5.44e-09 | 5.03e-07 | 95 |
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 | | ANGUIDIN | ANGUIDIN | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | CHLORQUINALDOL | CHLORQUINALDOL | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | GNF-PF-2094 | CHEMBL578928 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | GNF-PF-2356 | CHEMBL601547 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | IBRUTINIB | IBRUTINIB | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | TCMDC-123808 | CHEMBL546493 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | DNDI1417400 | CHEMBL1362503 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | SJ000201788 | CHEMBL602923 | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | GEOPYXIN A | GEOPYXIN A | |
4088 | SMAD3 | DRUGGABLE GENOME, KINASE, CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR COMPLEX | | NSC-145669 | CHEMBL191611 | |