GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00723303 | Liver | NAFLD | monocarboxylic acid biosynthetic process | 46/1882 | 214/18723 | 5.06e-07 | 3.07e-05 | 46 |
GO:00066356 | Liver | NAFLD | fatty acid beta-oxidation | 23/1882 | 74/18723 | 5.09e-07 | 3.07e-05 | 23 |
GO:00620125 | Liver | NAFLD | regulation of small molecule metabolic process | 63/1882 | 334/18723 | 6.55e-07 | 3.79e-05 | 63 |
GO:00068694 | Liver | NAFLD | lipid transport | 71/1882 | 398/18723 | 1.16e-06 | 5.59e-05 | 71 |
GO:00426323 | Liver | NAFLD | cholesterol homeostasis | 26/1882 | 96/18723 | 1.83e-06 | 7.86e-05 | 26 |
GO:00192163 | Liver | NAFLD | regulation of lipid metabolic process | 61/1882 | 331/18723 | 2.18e-06 | 9.24e-05 | 61 |
GO:00550923 | Liver | NAFLD | sterol homeostasis | 26/1882 | 97/18723 | 2.26e-06 | 9.51e-05 | 26 |
GO:0006699 | Liver | NAFLD | bile acid biosynthetic process | 14/1882 | 36/18723 | 4.59e-06 | 1.75e-04 | 14 |
GO:0015850 | Liver | NAFLD | organic hydroxy compound transport | 50/1882 | 284/18723 | 6.01e-05 | 1.32e-03 | 50 |
GO:00066943 | Liver | NAFLD | steroid biosynthetic process | 34/1882 | 173/18723 | 1.01e-04 | 2.02e-03 | 34 |
GO:0044772 | Liver | NAFLD | mitotic cell cycle phase transition | 67/1882 | 424/18723 | 1.25e-04 | 2.39e-03 | 67 |
GO:00030182 | Liver | NAFLD | vascular process in circulatory system | 46/1882 | 263/18723 | 1.36e-04 | 2.58e-03 | 46 |
GO:00069703 | Liver | NAFLD | response to osmotic stress | 20/1882 | 84/18723 | 1.95e-04 | 3.41e-03 | 20 |
GO:00192183 | Liver | NAFLD | regulation of steroid metabolic process | 22/1882 | 100/18723 | 3.22e-04 | 4.98e-03 | 22 |
GO:00714663 | Liver | NAFLD | cellular response to xenobiotic stimulus | 33/1882 | 177/18723 | 3.54e-04 | 5.36e-03 | 33 |
GO:0015721 | Liver | NAFLD | bile acid and bile salt transport | 10/1882 | 30/18723 | 4.67e-04 | 6.74e-03 | 10 |
GO:00068054 | Liver | NAFLD | xenobiotic metabolic process | 22/1882 | 111/18723 | 1.42e-03 | 1.58e-02 | 22 |
GO:00105653 | Liver | NAFLD | regulation of cellular ketone metabolic process | 25/1882 | 133/18723 | 1.54e-03 | 1.66e-02 | 25 |
GO:00421803 | Liver | NAFLD | cellular ketone metabolic process | 35/1882 | 211/18723 | 2.09e-03 | 2.06e-02 | 35 |
GO:0055091 | Liver | NAFLD | phospholipid homeostasis | 6/1882 | 15/18723 | 2.30e-03 | 2.19e-02 | 6 |
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 |
ABCB1 | SNV | Missense_Mutation | | c.2966N>A | p.Gly989Glu | p.G989E | P08183 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A04U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ABCB1 | SNV | Missense_Mutation | rs776877163 | c.3194C>T | p.Thr1065Met | p.T1065M | P08183 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | rs36105130 | c.2547N>G | p.Ile849Met | p.I849M | P08183 | protein_coding | deleterious(0.04) | possibly_damaging(0.626) | TCGA-AC-A6IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | rs201352027 | c.1211N>A | p.Arg404Gln | p.R404Q | P08183 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AQ-A54N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | | c.2320N>A | p.Gly774Ser | p.G774S | P08183 | protein_coding | tolerated(0.08) | probably_damaging(0.927) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ABCB1 | SNV | Missense_Mutation | | c.1561N>C | p.Asp521His | p.D521H | P08183 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | | c.2816N>C | p.Gly939Ala | p.G939A | P08183 | protein_coding | deleterious(0.03) | probably_damaging(0.981) | TCGA-BH-A1F0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ABCB1 | SNV | Missense_Mutation | rs139611979 | c.1342N>A | p.Glu448Lys | p.E448K | P08183 | protein_coding | tolerated(0.12) | possibly_damaging(0.61) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
ABCB1 | SNV | Missense_Mutation | novel | c.170N>G | p.Ala57Gly | p.A57G | P08183 | protein_coding | tolerated(0.24) | benign(0.269) | TCGA-EW-A1PC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ABCB1 | deletion | Frame_Shift_Del | novel | c.568delN | p.Ile190LeufsTer16 | p.I190Lfs*16 | P08183 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | antiepileptics | | 15452306,17125969,16386926,17306068,21747585,19450124,22630058,22188362,20417680,17521963,16004559,16542858,16753003,24300029,12686700,15857428,25458099,21391884,18812236 |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | CAROTENOIDS | | 16454745 |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | agomelatine | AGOMELATINE | |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | daptomycin | DAPTOMYCIN | 25239468 |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | nicardipine | NICARDIPINE | |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | VINBLASTINE | VINBLASTINE | 21348461,20363635 |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | DEXTROMETHORPHAN | DEXTROMETHORPHAN | 15582917 |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | ranolazine | RANOLAZINE | 24433361 |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | spironolactone | SPIRONOLACTONE | |
5243 | ABCB1 | CLINICALLY ACTIONABLE, TRANSPORTER, DRUGGABLE GENOME, ENZYME, CELL SURFACE, DRUG RESISTANCE, ABC TRANSPORTER | | propranolol | PROPRANOLOL | |