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Gene: ABCB1 |
Gene summary for ABCB1 |
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Gene information | Species | Human | Gene symbol | ABCB1 | Gene ID | 5243 |
Gene name | ATP binding cassette subfamily B member 1 | |
Gene Alias | ABC20 | |
Cytomap | 7q21.12 | |
Gene Type | protein-coding | GO ID | GO:0000086 | UniProtAcc | A4D1D2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5243 | ABCB1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.22e-06 | 3.93e-01 | -0.0811 |
5243 | ABCB1 | HTA11_866_3004761011 | Human | Colorectum | AD | 6.56e-07 | 3.47e-01 | 0.096 |
5243 | ABCB1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.65e-03 | 2.07e-01 | 0.0588 |
5243 | ABCB1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.41e-20 | 5.60e-01 | 0.294 |
5243 | ABCB1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.29e-08 | 4.16e-01 | 0.281 |
5243 | ABCB1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.71e-10 | 4.40e-01 | 0.3859 |
5243 | ABCB1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.09e-13 | 4.15e-01 | 0.3005 |
5243 | ABCB1 | A002-C-010 | Human | Colorectum | FAP | 3.36e-10 | 4.38e-01 | 0.242 |
5243 | ABCB1 | A001-C-207 | Human | Colorectum | FAP | 7.74e-04 | 4.24e-01 | 0.1278 |
5243 | ABCB1 | A002-C-203 | Human | Colorectum | FAP | 1.25e-20 | 6.98e-01 | 0.2786 |
5243 | ABCB1 | A002-C-021 | Human | Colorectum | FAP | 1.28e-04 | 3.07e-01 | 0.1171 |
5243 | ABCB1 | A001-C-104 | Human | Colorectum | FAP | 4.40e-05 | 3.92e-01 | 0.0184 |
5243 | ABCB1 | A015-C-106 | Human | Colorectum | FAP | 1.32e-03 | 3.45e-01 | -0.0511 |
5243 | ABCB1 | A008-E-015 | Human | Colorectum | FAP | 1.46e-11 | 4.38e-01 | 0.0177 |
5243 | ABCB1 | NAFLD1 | Human | Liver | NAFLD | 1.45e-02 | 3.79e-01 | -0.04 |
5243 | ABCB1 | S43 | Human | Liver | Cirrhotic | 1.23e-08 | 3.55e-02 | -0.0187 |
5243 | ABCB1 | HCC1_Meng | Human | Liver | HCC | 4.02e-74 | 7.60e-03 | 0.0246 |
5243 | ABCB1 | HCC2_Meng | Human | Liver | HCC | 1.21e-08 | -3.04e-01 | 0.0107 |
5243 | ABCB1 | cirrhotic1 | Human | Liver | Cirrhotic | 5.03e-09 | 7.35e-02 | 0.0202 |
5243 | ABCB1 | cirrhotic2 | Human | Liver | Cirrhotic | 1.46e-08 | 1.18e-01 | 0.0201 |
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∗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:0009636 | Colorectum | AD | response to toxic substance | 88/3918 | 262/18723 | 1.12e-06 | 3.72e-05 | 88 |
GO:0098754 | Colorectum | AD | detoxification | 53/3918 | 152/18723 | 4.63e-05 | 7.98e-04 | 53 |
GO:0009410 | Colorectum | AD | response to xenobiotic stimulus | 128/3918 | 462/18723 | 2.69e-04 | 3.31e-03 | 128 |
GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
GO:0006869 | Colorectum | AD | lipid transport | 108/3918 | 398/18723 | 1.67e-03 | 1.39e-02 | 108 |
GO:0042886 | Colorectum | AD | amide transport | 83/3918 | 301/18723 | 3.37e-03 | 2.46e-02 | 83 |
GO:0032411 | Colorectum | AD | positive regulation of transporter activity | 37/3918 | 120/18723 | 6.82e-03 | 4.22e-02 | 37 |
GO:0015698 | Colorectum | AD | inorganic anion transport | 52/3918 | 180/18723 | 6.83e-03 | 4.22e-02 | 52 |
GO:0015748 | Colorectum | AD | organophosphate ester transport | 42/3918 | 140/18723 | 7.04e-03 | 4.31e-02 | 42 |
GO:00096362 | Colorectum | MSS | response to toxic substance | 73/3467 | 262/18723 | 1.26e-04 | 1.94e-03 | 73 |
GO:0150104 | Colorectum | MSS | transport across blood-brain barrier | 28/3467 | 87/18723 | 1.54e-03 | 1.41e-02 | 28 |
GO:0010232 | Colorectum | MSS | vascular transport | 28/3467 | 88/18723 | 1.87e-03 | 1.64e-02 | 28 |
GO:00324091 | Colorectum | MSS | regulation of transporter activity | 78/3467 | 310/18723 | 2.09e-03 | 1.78e-02 | 78 |
GO:0070633 | Colorectum | MSS | transepithelial transport | 13/3467 | 31/18723 | 2.14e-03 | 1.80e-02 | 13 |
GO:00428861 | Colorectum | MSS | amide transport | 76/3467 | 301/18723 | 2.14e-03 | 1.80e-02 | 76 |
GO:0034764 | Colorectum | MSS | positive regulation of transmembrane transport | 58/3467 | 219/18723 | 2.19e-03 | 1.83e-02 | 58 |
GO:00094101 | Colorectum | MSS | response to xenobiotic stimulus | 110/3467 | 462/18723 | 2.36e-03 | 1.92e-02 | 110 |
GO:00324112 | Colorectum | MSS | positive regulation of transporter activity | 35/3467 | 120/18723 | 2.95e-03 | 2.28e-02 | 35 |
GO:0022898 | Colorectum | MSS | regulation of transmembrane transporter activity | 70/3467 | 278/18723 | 3.36e-03 | 2.54e-02 | 70 |
GO:00987542 | Colorectum | MSS | detoxification | 41/3467 | 152/18723 | 6.41e-03 | 4.27e-02 | 41 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04976 | Colorectum | FAP | Bile secretion | 24/1404 | 89/8465 | 8.76e-03 | 3.21e-02 | 1.96e-02 | 24 |
hsa049761 | Colorectum | FAP | Bile secretion | 24/1404 | 89/8465 | 8.76e-03 | 3.21e-02 | 1.96e-02 | 24 |
hsa02010 | Liver | NAFLD | ABC transporters | 16/1043 | 45/8465 | 4.97e-05 | 1.16e-03 | 9.37e-04 | 16 |
hsa020101 | Liver | NAFLD | ABC transporters | 16/1043 | 45/8465 | 4.97e-05 | 1.16e-03 | 9.37e-04 | 16 |
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 |
ABCB1 | SNV | Missense_Mutation | c.3104N>C | p.Val1035Ala | p.V1035A | P08183 | protein_coding | deleterious(0) | benign(0.272) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ABCB1 | SNV | Missense_Mutation | c.36G>T | p.Lys12Asn | p.K12N | P08183 | protein_coding | tolerated(0.36) | benign(0.005) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ABCB1 | SNV | Missense_Mutation | rs199551851 | c.122N>A | p.Arg41His | p.R41H | P08183 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ABCB1 | SNV | Missense_Mutation | c.90N>T | p.Lys30Asn | p.K30N | P08183 | protein_coding | tolerated(0.12) | probably_damaging(0.987) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
ABCB1 | SNV | Missense_Mutation | c.1092N>C | p.Glu364Asp | p.E364D | P08183 | protein_coding | tolerated(0.51) | benign(0.034) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
ABCB1 | SNV | Missense_Mutation | rs779103120 | c.3674N>A | p.Arg1225His | p.R1225H | P08183 | protein_coding | deleterious(0.01) | probably_damaging(0.947) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | c.1790N>C | p.Val597Ala | p.V597A | P08183 | protein_coding | deleterious(0.04) | benign(0.071) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ABCB1 | SNV | Missense_Mutation | novel | c.2521N>A | p.Ala841Thr | p.A841T | P08183 | protein_coding | tolerated(0.79) | probably_damaging(0.999) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | novel | c.2191N>C | p.Ile731Leu | p.I731L | P08183 | protein_coding | tolerated(0.77) | benign(0.04) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ABCB1 | SNV | Missense_Mutation | c.42N>T | p.Lys14Asn | p.K14N | P08183 | protein_coding | tolerated(0.45) | benign(0.007) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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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 |
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 |
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