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 |
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:19021656 | Cervix | CC | regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 6/2311 | 16/18723 | 9.35e-03 | 4.66e-02 | 6 |
GO:00182054 | Cervix | CC | peptidyl-lysine modification | 62/2311 | 376/18723 | 1.04e-02 | 4.97e-02 | 62 |
GO:00448195 | Cervix | CC | mitotic G1/S transition checkpoint | 9/2311 | 31/18723 | 1.04e-02 | 4.97e-02 | 9 |
GO:009719315 | Cervix | HSIL_HPV | intrinsic apoptotic signaling pathway | 41/737 | 288/18723 | 8.91e-13 | 1.43e-09 | 41 |
GO:200123315 | Cervix | HSIL_HPV | regulation of apoptotic signaling pathway | 46/737 | 356/18723 | 1.23e-12 | 1.49e-09 | 46 |
GO:200124215 | Cervix | HSIL_HPV | regulation of intrinsic apoptotic signaling pathway | 27/737 | 164/18723 | 2.67e-10 | 7.02e-08 | 27 |
GO:200123415 | Cervix | HSIL_HPV | negative regulation of apoptotic signaling pathway | 27/737 | 224/18723 | 2.44e-07 | 1.45e-05 | 27 |
GO:007233215 | Cervix | HSIL_HPV | intrinsic apoptotic signaling pathway by p53 class mediator | 14/737 | 76/18723 | 1.35e-06 | 6.21e-05 | 14 |
GO:007233115 | Cervix | HSIL_HPV | signal transduction by p53 class mediator | 21/737 | 163/18723 | 1.78e-06 | 7.60e-05 | 21 |
GO:190179615 | Cervix | HSIL_HPV | regulation of signal transduction by p53 class mediator | 15/737 | 93/18723 | 3.28e-06 | 1.34e-04 | 15 |
GO:200124315 | Cervix | HSIL_HPV | negative regulation of intrinsic apoptotic signaling pathway | 15/737 | 98/18723 | 6.40e-06 | 2.30e-04 | 15 |
GO:190225315 | Cervix | HSIL_HPV | regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 8/737 | 29/18723 | 1.14e-05 | 3.77e-04 | 8 |
GO:000863014 | Cervix | HSIL_HPV | intrinsic apoptotic signaling pathway in response to DNA damage | 14/737 | 99/18723 | 3.25e-05 | 9.15e-04 | 14 |
GO:000716213 | Cervix | HSIL_HPV | negative regulation of cell adhesion | 27/737 | 303/18723 | 7.01e-05 | 1.62e-03 | 27 |
GO:004362015 | Cervix | HSIL_HPV | regulation of DNA-templated transcription in response to stress | 9/737 | 53/18723 | 2.02e-04 | 3.67e-03 | 9 |
GO:004277114 | Cervix | HSIL_HPV | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 8/737 | 43/18723 | 2.37e-04 | 4.15e-03 | 8 |
GO:190216514 | Cervix | HSIL_HPV | regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 5/737 | 16/18723 | 2.83e-04 | 4.69e-03 | 5 |
GO:190222913 | Cervix | HSIL_HPV | regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 7/737 | 36/18723 | 4.38e-04 | 6.51e-03 | 7 |
GO:004361815 | Cervix | HSIL_HPV | regulation of transcription from RNA polymerase II promoter in response to stress | 8/737 | 47/18723 | 4.47e-04 | 6.63e-03 | 8 |
GO:19021662 | Cervix | HSIL_HPV | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 4/737 | 14/18723 | 1.74e-03 | 1.86e-02 | 4 |
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 |
MUC1 | SNV | Missense_Mutation | novel | c.640C>A | p.Pro214Thr | p.P214T | | protein_coding | tolerated(0.08) | possibly_damaging(0.503) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
MUC1 | SNV | Missense_Mutation | | c.1102N>T | p.Val368Phe | p.V368F | | protein_coding | deleterious(0.05) | benign(0.186) | TCGA-D8-A13Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
MUC1 | SNV | Missense_Mutation | novel | c.998C>A | p.Thr333Asn | p.T333N | | protein_coding | deleterious(0) | probably_damaging(0.923) | TCGA-D8-A1XC-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
MUC1 | deletion | Frame_Shift_Del | novel | c.643_697delNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Ala215ProfsTer100 | p.A215Pfs*100 | | protein_coding | | | TCGA-E2-A15S-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MUC1 | SNV | Missense_Mutation | rs759820018 | c.247N>G | p.Gln83Glu | p.Q83E | | protein_coding | tolerated(0.8) | benign(0.101) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MUC1 | SNV | Missense_Mutation | novel | c.620N>G | p.Ser207Cys | p.S207C | | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-HM-A3JJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
MUC1 | SNV | Missense_Mutation | novel | c.701N>G | p.Leu234Arg | p.L234R | | protein_coding | tolerated(0.37) | benign(0.299) | TCGA-R2-A69V-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
MUC1 | SNV | Missense_Mutation | novel | c.1183N>A | p.Leu395Met | p.L395M | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MUC1 | SNV | Missense_Mutation | novel | c.854N>T | p.Ser285Phe | p.S285F | | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MUC1 | SNV | Missense_Mutation | novel | c.175G>A | p.Glu59Lys | p.E59K | | protein_coding | tolerated(0.48) | possibly_damaging(0.497) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | Anti-MUC1 mab | | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | G0-203-2c | | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | SODIUM BUTYRATE | | 2211839 |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | MUC-1 CART cell immunotherapy | | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | Pankomab-GEX | | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | BREVAREX MAB | | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | AS-1402 | HUHMFG1 | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | SAR-566658 | SAR-566658 | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | GO-203-2c | GO-203-2C | |
4582 | MUC1 | CLINICALLY ACTIONABLE, ENZYME, DRUGGABLE GENOME | | AS1402 | HUHMFG1 | |