GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00550883 | Liver | NAFLD | lipid homeostasis | 44/1882 | 167/18723 | 1.48e-09 | 2.54e-07 | 44 |
GO:00108765 | Liver | NAFLD | lipid localization | 79/1882 | 448/18723 | 4.75e-07 | 2.92e-05 | 79 |
GO:00303013 | Liver | NAFLD | cholesterol transport | 30/1882 | 117/18723 | 1.08e-06 | 5.40e-05 | 30 |
GO:00068694 | Liver | NAFLD | lipid transport | 71/1882 | 398/18723 | 1.16e-06 | 5.59e-05 | 71 |
GO:00159183 | Liver | NAFLD | sterol transport | 32/1882 | 130/18723 | 1.27e-06 | 6.01e-05 | 32 |
GO:0032373 | Liver | NAFLD | positive regulation of sterol transport | 15/1882 | 38/18723 | 1.68e-06 | 7.43e-05 | 15 |
GO:0032376 | Liver | NAFLD | positive regulation of cholesterol transport | 15/1882 | 38/18723 | 1.68e-06 | 7.43e-05 | 15 |
GO:0015850 | Liver | NAFLD | organic hydroxy compound transport | 50/1882 | 284/18723 | 6.01e-05 | 1.32e-03 | 50 |
GO:0032371 | Liver | NAFLD | regulation of sterol transport | 20/1882 | 78/18723 | 6.46e-05 | 1.39e-03 | 20 |
GO:0032374 | Liver | NAFLD | regulation of cholesterol transport | 20/1882 | 78/18723 | 6.46e-05 | 1.39e-03 | 20 |
GO:1905952 | Liver | NAFLD | regulation of lipid localization | 34/1882 | 181/18723 | 2.51e-04 | 4.12e-03 | 34 |
GO:1905954 | Liver | NAFLD | positive regulation of lipid localization | 23/1882 | 110/18723 | 5.16e-04 | 7.15e-03 | 23 |
GO:0032368 | Liver | NAFLD | regulation of lipid transport | 28/1882 | 149/18723 | 8.39e-04 | 1.03e-02 | 28 |
GO:19016547 | Liver | NAFLD | response to ketone | 34/1882 | 194/18723 | 9.22e-04 | 1.10e-02 | 34 |
GO:0032370 | Liver | NAFLD | positive regulation of lipid transport | 18/1882 | 84/18723 | 1.49e-03 | 1.64e-02 | 18 |
GO:0045472 | Liver | NAFLD | response to ether | 6/1882 | 14/18723 | 1.51e-03 | 1.64e-02 | 6 |
GO:190165412 | Liver | Cirrhotic | response to ketone | 86/4634 | 194/18723 | 1.82e-09 | 7.73e-08 | 86 |
GO:005508811 | Liver | Cirrhotic | lipid homeostasis | 74/4634 | 167/18723 | 2.46e-08 | 8.51e-07 | 74 |
GO:001087611 | Liver | Cirrhotic | lipid localization | 147/4634 | 448/18723 | 6.24e-05 | 7.12e-04 | 147 |
GO:000686911 | Liver | Cirrhotic | lipid transport | 128/4634 | 398/18723 | 4.54e-04 | 3.69e-03 | 128 |
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 |
ABCB4 | SNV | Missense_Mutation | | c.296N>T | p.Ser99Phe | p.S99F | P21439 | protein_coding | deleterious(0.02) | benign(0.006) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ABCB4 | SNV | Missense_Mutation | | c.2230N>A | p.Asp744Asn | p.D744N | P21439 | protein_coding | tolerated(0.38) | benign(0.048) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
ABCB4 | SNV | Missense_Mutation | | c.1537N>C | p.Glu513Gln | p.E513Q | P21439 | protein_coding | deleterious(0) | benign(0.219) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCB4 | SNV | Missense_Mutation | | c.2249N>G | p.Lys750Arg | p.K750R | P21439 | protein_coding | tolerated(0.36) | benign(0.02) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCB4 | SNV | Missense_Mutation | | c.2354N>A | p.Arg785Lys | p.R785K | P21439 | protein_coding | tolerated(1) | benign(0) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
ABCB4 | SNV | Missense_Mutation | | c.1537N>C | p.Glu513Gln | p.E513Q | P21439 | protein_coding | deleterious(0) | benign(0.219) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
ABCB4 | SNV | Missense_Mutation | | c.3262N>A | p.Pro1088Thr | p.P1088T | P21439 | protein_coding | deleterious(0.03) | possibly_damaging(0.768) | TCGA-D8-A27M-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate+5 | SD |
ABCB4 | SNV | Missense_Mutation | | c.1577T>G | p.Val526Gly | p.V526G | P21439 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ABCB4 | SNV | Missense_Mutation | | c.3461N>T | p.Ala1154Val | p.A1154V | P21439 | protein_coding | tolerated(0.13) | possibly_damaging(0.483) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
ABCB4 | insertion | Frame_Shift_Ins | novel | c.436_437insCTCCCAG | p.Ile146ThrfsTer7 | p.I146Tfs*7 | P21439 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | VINBLASTINE | VINBLASTINE | 7918493 |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | Ortataxel | ORTATAXEL | |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | VINCRISTINE | VINCRISTINE | 1673638 |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | CYCLOSPORINE | CYCLOSPORINE | 1972761 |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | MITOMYCIN-C | | 11167651 |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | anthracyclines and related substances | | 23441093,21900104 |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | Benzquinamide | BENZQUINAMIDE | |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | imatinib | IMATINIB | 30237583 |
5244 | ABCB4 | TRANSPORTER, DRUGGABLE GENOME, ENZYME, ABC TRANSPORTER | | Curcumin | CURCUMIN | |