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:0042772 | Oral cavity | OSCC | DNA damage response, signal transduction resulting in transcription | 12/7305 | 17/18723 | 8.40e-03 | 3.05e-02 | 12 |
GO:00069773 | Oral cavity | OSCC | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | 13/7305 | 19/18723 | 9.07e-03 | 3.26e-02 | 13 |
GO:0006978 | Oral cavity | OSCC | DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | 11/7305 | 16/18723 | 1.56e-02 | 4.99e-02 | 11 |
GO:0097193110 | Oral cavity | LP | intrinsic apoptotic signaling pathway | 146/4623 | 288/18723 | 9.76e-22 | 2.78e-19 | 146 |
GO:2001233110 | Oral cavity | LP | regulation of apoptotic signaling pathway | 168/4623 | 356/18723 | 1.35e-20 | 3.02e-18 | 168 |
GO:2001242110 | Oral cavity | LP | regulation of intrinsic apoptotic signaling pathway | 95/4623 | 164/18723 | 9.85e-20 | 1.99e-17 | 95 |
GO:2001243110 | Oral cavity | LP | negative regulation of intrinsic apoptotic signaling pathway | 56/4623 | 98/18723 | 6.93e-12 | 5.48e-10 | 56 |
GO:2001234110 | Oral cavity | LP | negative regulation of apoptotic signaling pathway | 102/4623 | 224/18723 | 7.22e-12 | 5.58e-10 | 102 |
GO:000863019 | Oral cavity | LP | intrinsic apoptotic signaling pathway in response to DNA damage | 51/4623 | 99/18723 | 8.01e-09 | 3.20e-07 | 51 |
GO:0072331110 | Oral cavity | LP | signal transduction by p53 class mediator | 72/4623 | 163/18723 | 3.99e-08 | 1.41e-06 | 72 |
GO:000734614 | Oral cavity | LP | regulation of mitotic cell cycle | 163/4623 | 457/18723 | 7.64e-08 | 2.56e-06 | 163 |
GO:001820513 | Oral cavity | LP | peptidyl-lysine modification | 136/4623 | 376/18723 | 3.64e-07 | 1.06e-05 | 136 |
GO:004477215 | Oral cavity | LP | mitotic cell cycle phase transition | 150/4623 | 424/18723 | 4.38e-07 | 1.23e-05 | 150 |
GO:0072332110 | Oral cavity | LP | intrinsic apoptotic signaling pathway by p53 class mediator | 39/4623 | 76/18723 | 5.10e-07 | 1.40e-05 | 39 |
GO:004354312 | Oral cavity | LP | protein acylation | 93/4623 | 243/18723 | 1.65e-06 | 3.86e-05 | 93 |
GO:004277119 | Oral cavity | LP | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 25/4623 | 43/18723 | 3.00e-06 | 6.47e-05 | 25 |
GO:001839412 | Oral cavity | LP | peptidyl-lysine acetylation | 68/4623 | 169/18723 | 5.60e-06 | 1.11e-04 | 68 |
GO:000647312 | Oral cavity | LP | protein acetylation | 78/4623 | 201/18723 | 6.06e-06 | 1.20e-04 | 78 |
GO:0043620110 | Oral cavity | LP | regulation of DNA-templated transcription in response to stress | 28/4623 | 53/18723 | 9.88e-06 | 1.80e-04 | 28 |
GO:1901796110 | Oral cavity | LP | regulation of signal transduction by p53 class mediator | 42/4623 | 93/18723 | 1.31e-05 | 2.33e-04 | 42 |
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 | |