GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00463953 | Liver | NAFLD | carboxylic acid catabolic process | 73/1882 | 236/18723 | 4.16e-19 | 1.22e-15 | 73 |
GO:00160544 | Liver | NAFLD | organic acid catabolic process | 73/1882 | 240/18723 | 1.20e-18 | 2.34e-15 | 73 |
GO:00442825 | Liver | NAFLD | small molecule catabolic process | 91/1882 | 376/18723 | 8.96e-16 | 1.31e-12 | 91 |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:00160535 | Liver | NAFLD | organic acid biosynthetic process | 77/1882 | 316/18723 | 1.03e-13 | 6.69e-11 | 77 |
GO:00463945 | Liver | NAFLD | carboxylic acid biosynthetic process | 75/1882 | 314/18723 | 6.37e-13 | 3.39e-10 | 75 |
GO:00723295 | Liver | NAFLD | monocarboxylic acid catabolic process | 39/1882 | 122/18723 | 2.40e-11 | 8.77e-09 | 39 |
GO:00090626 | Liver | NAFLD | fatty acid catabolic process | 34/1882 | 100/18723 | 6.81e-11 | 1.99e-08 | 34 |
GO:00082023 | Liver | NAFLD | steroid metabolic process | 69/1882 | 319/18723 | 5.90e-10 | 1.28e-07 | 69 |
GO:00193956 | Liver | NAFLD | fatty acid oxidation | 33/1882 | 103/18723 | 7.58e-10 | 1.53e-07 | 33 |
GO:00442425 | Liver | NAFLD | cellular lipid catabolic process | 52/1882 | 214/18723 | 1.15e-09 | 2.17e-07 | 52 |
GO:00550883 | Liver | NAFLD | lipid homeostasis | 44/1882 | 167/18723 | 1.48e-09 | 2.54e-07 | 44 |
GO:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00344405 | Liver | NAFLD | lipid oxidation | 33/1882 | 108/18723 | 2.96e-09 | 4.56e-07 | 33 |
GO:00302585 | Liver | NAFLD | lipid modification | 49/1882 | 212/18723 | 1.97e-08 | 2.17e-06 | 49 |
GO:0008206 | Liver | NAFLD | bile acid metabolic process | 19/1882 | 49/18723 | 9.82e-08 | 7.76e-06 | 19 |
GO:00160426 | Liver | NAFLD | lipid catabolic process | 63/1882 | 320/18723 | 1.35e-07 | 1.02e-05 | 63 |
GO:00108765 | Liver | NAFLD | lipid localization | 79/1882 | 448/18723 | 4.75e-07 | 2.92e-05 | 79 |
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 |
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 |
ABCB11 | SNV | Missense_Mutation | novel | c.505N>T | p.Arg169Cys | p.R169C | O95342 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-OL-A5DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCB11 | insertion | Frame_Shift_Ins | novel | c.3234_3235insCTTTCTCTTTTCTGTCCTTTTTTTCTTTCTTTAAAAG | p.Asp1079LeufsTer16 | p.D1079Lfs*16 | O95342 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
ABCB11 | insertion | Frame_Shift_Ins | novel | c.1769_1770insACATAGTAAAGAATTCTACTTGGATATGGTTCTGTTTATTGTATAT | p.Asp590GlufsTer18 | p.D590Efs*18 | O95342 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
ABCB11 | deletion | Frame_Shift_Del | novel | c.3390delN | p.Tyr1130Ter | p.Y1130* | O95342 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
ABCB11 | SNV | Missense_Mutation | novel | c.3454C>A | p.Leu1152Ile | p.L1152I | O95342 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ABCB11 | SNV | Missense_Mutation | | c.1999N>C | p.Glu667Gln | p.E667Q | O95342 | protein_coding | tolerated(0.14) | benign(0.021) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
ABCB11 | SNV | Missense_Mutation | | c.3289A>T | p.Asn1097Tyr | p.N1097Y | O95342 | protein_coding | deleterious(0) | possibly_damaging(0.851) | TCGA-C5-A7CM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
ABCB11 | SNV | Missense_Mutation | rs200912109 | c.2036N>T | p.Ala679Val | p.A679V | O95342 | protein_coding | tolerated(0.29) | benign(0.001) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCB11 | SNV | Missense_Mutation | | c.1870N>A | p.Asp624Asn | p.D624N | O95342 | protein_coding | tolerated(0.06) | benign(0.115) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ABCB11 | SNV | Missense_Mutation | | c.1915N>G | p.Thr639Ala | p.T639A | O95342 | protein_coding | deleterious(0.02) | benign(0.08) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | CHENODIOL | CHENODIOL | 19102680 |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | lapatinib | LAPATINIB | 23556451 |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | CHOLIC ACID | CHOLIC ACID | 22464344 |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | CYCLOSPORINE | CYCLOSPORINE | 23129211 |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | pravastatin | PRAVASTATIN | |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | rosuvastatin | ROSUVASTATIN | |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | HYDROXYPROGESTERONE CAPROATE | HYDROXYPROGESTERONE CAPROATE | 23129211 |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | 178101266 | | |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | GS-9256 | GS-9256 | 22244938 |
8647 | ABCB11 | TRANSPORTER, DRUGGABLE GENOME, ABC TRANSPORTER, CELL SURFACE | | hmg coa reductase inhibitors | | |