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Gene: ABCB4 |
Gene summary for ABCB4 |
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Gene information | Species | Human | Gene symbol | ABCB4 | Gene ID | 5244 |
Gene name | ATP binding cassette subfamily B member 4 | |
Gene Alias | ABC21 | |
Cytomap | 7q21.12 | |
Gene Type | protein-coding | GO ID | GO:0006629 | UniProtAcc | P21439 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5244 | ABCB4 | NAFLD1 | Human | Liver | NAFLD | 1.32e-16 | 1.26e+00 | -0.04 |
5244 | ABCB4 | S43 | Human | Liver | Cirrhotic | 8.67e-05 | -1.67e-01 | -0.0187 |
5244 | ABCB4 | HCC1_Meng | Human | Liver | HCC | 6.85e-51 | -2.50e-01 | 0.0246 |
5244 | ABCB4 | HCC2_Meng | Human | Liver | HCC | 4.41e-09 | -3.44e-01 | 0.0107 |
5244 | ABCB4 | cirrhotic1 | Human | Liver | Cirrhotic | 3.70e-09 | -3.42e-01 | 0.0202 |
5244 | ABCB4 | cirrhotic2 | Human | Liver | Cirrhotic | 1.33e-08 | -3.38e-01 | 0.0201 |
5244 | ABCB4 | cirrhotic3 | Human | Liver | Cirrhotic | 5.63e-03 | -3.41e-01 | 0.0215 |
5244 | ABCB4 | HCC5 | Human | Liver | HCC | 1.61e-08 | 2.56e+00 | 0.4932 |
5244 | ABCB4 | Pt13.a | Human | Liver | HCC | 3.00e-05 | -2.63e-01 | 0.021 |
5244 | ABCB4 | Pt13.b | Human | Liver | HCC | 4.04e-03 | -2.97e-01 | 0.0251 |
5244 | ABCB4 | Pt14.a | Human | Liver | HCC | 3.92e-02 | -8.34e-03 | 0.0169 |
5244 | ABCB4 | Pt14.b | Human | Liver | HCC | 1.41e-04 | -3.05e-05 | 0.018 |
5244 | ABCB4 | Pt14.d | Human | Liver | HCC | 2.02e-04 | -1.50e-01 | 0.0143 |
5244 | ABCB4 | S014 | Human | Liver | HCC | 5.36e-05 | -9.33e-02 | 0.2254 |
5244 | ABCB4 | S016 | Human | Liver | HCC | 9.20e-07 | -8.23e-02 | 0.2243 |
5244 | ABCB4 | S028 | Human | Liver | HCC | 5.06e-05 | -7.30e-03 | 0.2503 |
5244 | ABCB4 | S029 | Human | Liver | HCC | 2.47e-03 | 1.12e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa02010 | Liver | NAFLD | ABC transporters | 16/1043 | 45/8465 | 4.97e-05 | 1.16e-03 | 9.37e-04 | 16 |
hsa049762 | Liver | NAFLD | Bile secretion | 20/1043 | 89/8465 | 5.08e-03 | 4.43e-02 | 3.57e-02 | 20 |
hsa020101 | Liver | NAFLD | ABC transporters | 16/1043 | 45/8465 | 4.97e-05 | 1.16e-03 | 9.37e-04 | 16 |
hsa0497611 | Liver | NAFLD | Bile secretion | 20/1043 | 89/8465 | 5.08e-03 | 4.43e-02 | 3.57e-02 | 20 |
hsa020102 | Liver | HCC | ABC transporters | 29/4020 | 45/8465 | 1.62e-02 | 3.88e-02 | 2.16e-02 | 29 |
hsa020103 | Liver | HCC | ABC transporters | 29/4020 | 45/8465 | 1.62e-02 | 3.88e-02 | 2.16e-02 | 29 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 | rs753551693 | c.37N>T | p.Arg13Cys | p.R13C | P21439 | protein_coding | tolerated_low_confidence(0.07) | benign(0) | TCGA-D7-A4YY-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ABCB4 | SNV | Missense_Mutation | novel | c.3242T>G | p.Leu1081Arg | p.L1081R | P21439 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D7-A6EY-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
ABCB4 | SNV | Missense_Mutation | c.2369N>C | p.Met790Thr | p.M790T | P21439 | protein_coding | tolerated(0.07) | benign(0.102) | TCGA-F1-6874-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ABCB4 | SNV | Missense_Mutation | c.1801N>A | p.Ala601Thr | p.A601T | P21439 | protein_coding | tolerated(0.15) | possibly_damaging(0.499) | TCGA-HF-7132-01 | Stomach | stomach adenocarcinoma | Male | Unknown | I/II | Chemotherapy | fluorouracil | SD | |
ABCB4 | SNV | Missense_Mutation | rs143392573 | c.3269C>T | p.Ala1090Val | p.A1090V | P21439 | protein_coding | tolerated(0.08) | benign(0.273) | TCGA-HU-A4GX-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | taxol | SD |
ABCB4 | SNV | Missense_Mutation | novel | c.2318G>A | p.Gly773Asp | p.G773D | P21439 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-VQ-A8PO-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ABCB4 | SNV | Missense_Mutation | novel | c.49G>A | p.Ala17Thr | p.A17T | P21439 | protein_coding | tolerated_low_confidence(0.59) | benign(0.01) | TCGA-VQ-A8PP-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
ABCB4 | SNV | Missense_Mutation | rs141677867 | c.2177N>T | p.Pro726Leu | p.P726L | P21439 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-VQ-A91E-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | fluorouracil | CR |
ABCB4 | deletion | Frame_Shift_Del | rs753104429 | c.1015delN | p.Ser339GlnfsTer3 | p.S339Qfs*3 | P21439 | protein_coding | TCGA-CD-A4MG-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | ||
ABCB4 | deletion | Frame_Shift_Del | novel | c.1141delT | p.Ser381GlnfsTer32 | p.S381Qfs*32 | P21439 | protein_coding | TCGA-HU-A4H4-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Chemotherapy | ts-1 | CR |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
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 |
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