GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0062197111 | Esophagus | ESCC | cellular response to chemical stress | 234/8552 | 337/18723 | 5.37e-19 | 5.97e-17 | 234 |
GO:0034599111 | Esophagus | ESCC | cellular response to oxidative stress | 197/8552 | 288/18723 | 3.76e-15 | 2.15e-13 | 197 |
GO:0000302111 | Esophagus | ESCC | response to reactive oxygen species | 150/8552 | 222/18723 | 3.06e-11 | 1.02e-09 | 150 |
GO:0042542111 | Esophagus | ESCC | response to hydrogen peroxide | 102/8552 | 146/18723 | 2.64e-09 | 5.81e-08 | 102 |
GO:0008631110 | Esophagus | ESCC | intrinsic apoptotic signaling pathway in response to oxidative stress | 38/8552 | 45/18723 | 8.42e-08 | 1.43e-06 | 38 |
GO:00066433 | Esophagus | ESCC | membrane lipid metabolic process | 130/8552 | 203/18723 | 9.29e-08 | 1.54e-06 | 130 |
GO:003461420 | Esophagus | ESCC | cellular response to reactive oxygen species | 103/8552 | 155/18723 | 1.34e-07 | 2.17e-06 | 103 |
GO:00510908 | Esophagus | ESCC | regulation of DNA-binding transcription factor activity | 252/8552 | 440/18723 | 5.22e-07 | 6.97e-06 | 252 |
GO:00703018 | Esophagus | ESCC | cellular response to hydrogen peroxide | 68/8552 | 98/18723 | 1.70e-06 | 2.03e-05 | 68 |
GO:200037718 | Esophagus | ESCC | regulation of reactive oxygen species metabolic process | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:000963620 | Esophagus | ESCC | response to toxic substance | 150/8552 | 262/18723 | 1.00e-04 | 7.12e-04 | 150 |
GO:007259318 | Esophagus | ESCC | reactive oxygen species metabolic process | 137/8552 | 239/18723 | 1.82e-04 | 1.16e-03 | 137 |
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 |
CYP1B1 | SNV | Missense_Mutation | novel | c.7A>C | p.Thr3Pro | p.T3P | Q16678 | protein_coding | deleterious_low_confidence(0.01) | benign(0.193) | TCGA-A2-A0ET-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
CYP1B1 | SNV | Missense_Mutation | novel | c.5G>C | p.Gly2Ala | p.G2A | Q16678 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-A2-A0ET-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
CYP1B1 | SNV | Missense_Mutation | | c.1444C>G | p.Leu482Val | p.L482V | Q16678 | protein_coding | deleterious(0.04) | possibly_damaging(0.744) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CYP1B1 | SNV | Missense_Mutation | rs201181935 | c.1290N>G | p.Asp430Glu | p.D430E | Q16678 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-B6-A0I1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CYP1B1 | SNV | Missense_Mutation | novel | c.191N>A | p.Ala64Glu | p.A64E | Q16678 | protein_coding | deleterious(0.04) | possibly_damaging(0.815) | TCGA-BH-A0DQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CYP1B1 | SNV | Missense_Mutation | novel | c.440N>T | p.Ala147Val | p.A147V | Q16678 | protein_coding | tolerated(0.92) | benign(0.006) | TCGA-UL-AAZ6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | herceptin | SD |
CYP1B1 | SNV | Missense_Mutation | novel | c.1250A>G | p.Asp417Gly | p.D417G | Q16678 | protein_coding | tolerated(0.12) | benign(0.229) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CYP1B1 | SNV | Missense_Mutation | novel | c.245G>A | p.Gly82Asp | p.G82D | Q16678 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CYP1B1 | SNV | Missense_Mutation | | c.776N>A | p.Arg259His | p.R259H | Q16678 | protein_coding | deleterious(0.01) | probably_damaging(0.952) | TCGA-A6-6654-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | oxaliplatin | SD |
CYP1B1 | SNV | Missense_Mutation | | c.312N>A | p.His104Gln | p.H104Q | Q16678 | protein_coding | deleterious(0.01) | benign(0.157) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | AMINOGLUTETHIMIDE | AMINOGLUTETHIMIDE | 18256205 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | ANASTROZOLE | ANASTROZOLE | 18256205 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | FORMESTANE | FORMESTANE | 18256205 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | paclitaxel | PACLITAXEL | 21151855,24599932 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | ADJUVANT | | 7787697 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | fluorouracil | FLUOROURACIL | 24958282 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | PINOCEMBRIN | PINOCEMBRIN | |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | docetaxel | DOCETAXEL | 21151855 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | FADROZOLE | FADROZOLE | 18256205 |
1545 | CYP1B1 | ENZYME, DRUGGABLE GENOME, CYTOCHROME P450, CLINICALLY ACTIONABLE | | TOREMIFENE | TOREMIFENE | 8262671 |