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Gene: ABCG8 |
Gene summary for ABCG8 |
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Gene information | Species | Human | Gene symbol | ABCG8 | Gene ID | 64241 |
Gene name | ATP binding cassette subfamily G member 8 | |
Gene Alias | GBD4 | |
Cytomap | 2p21 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q9H221 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
64241 | ABCG8 | NAFLD1 | Human | Liver | NAFLD | 9.90e-11 | 7.86e-01 | -0.04 |
64241 | ABCG8 | S41 | Human | Liver | Cirrhotic | 6.13e-03 | 3.25e-01 | -0.0343 |
64241 | ABCG8 | HCC1_Meng | Human | Liver | HCC | 4.33e-03 | -6.80e-02 | 0.0246 |
64241 | ABCG8 | cirrhotic1 | Human | Liver | Cirrhotic | 9.14e-03 | -6.58e-02 | 0.0202 |
64241 | ABCG8 | HCC1 | Human | Liver | HCC | 1.83e-02 | 1.35e+00 | 0.5336 |
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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:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00316677 | Liver | NAFLD | response to nutrient levels | 85/1882 | 474/18723 | 8.23e-08 | 7.09e-06 | 85 |
GO:0055090 | Liver | NAFLD | acylglycerol homeostasis | 17/1882 | 42/18723 | 2.22e-07 | 1.53e-05 | 17 |
GO:0070328 | Liver | NAFLD | triglyceride homeostasis | 17/1882 | 42/18723 | 2.22e-07 | 1.53e-05 | 17 |
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:00426323 | Liver | NAFLD | cholesterol homeostasis | 26/1882 | 96/18723 | 1.83e-06 | 7.86e-05 | 26 |
GO:00550923 | Liver | NAFLD | sterol homeostasis | 26/1882 | 97/18723 | 2.26e-06 | 9.51e-05 | 26 |
GO:0033344 | Liver | NAFLD | cholesterol efflux | 20/1882 | 69/18723 | 9.13e-06 | 2.98e-04 | 20 |
GO:00075844 | Liver | NAFLD | response to nutrient | 36/1882 | 174/18723 | 2.06e-05 | 5.78e-04 | 36 |
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:19044781 | Liver | NAFLD | regulation of intestinal absorption | 7/1882 | 13/18723 | 1.02e-04 | 2.02e-03 | 7 |
GO:0030300 | Liver | NAFLD | regulation of intestinal cholesterol absorption | 6/1882 | 10/18723 | 1.50e-04 | 2.78e-03 | 6 |
GO:1905952 | Liver | NAFLD | regulation of lipid localization | 34/1882 | 181/18723 | 2.51e-04 | 4.12e-03 | 34 |
GO:19047291 | Liver | NAFLD | regulation of intestinal lipid absorption | 6/1882 | 11/18723 | 3.03e-04 | 4.75e-03 | 6 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa049796 | Liver | NAFLD | Cholesterol metabolism | 20/1043 | 51/8465 | 9.73e-07 | 4.56e-05 | 3.67e-05 | 20 |
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 |
hsa0497911 | Liver | NAFLD | Cholesterol metabolism | 20/1043 | 51/8465 | 9.73e-07 | 4.56e-05 | 3.67e-05 | 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 |
hsa049792 | Liver | Cirrhotic | Cholesterol metabolism | 30/2530 | 51/8465 | 1.59e-05 | 1.39e-04 | 8.60e-05 | 30 |
hsa049793 | Liver | Cirrhotic | Cholesterol metabolism | 30/2530 | 51/8465 | 1.59e-05 | 1.39e-04 | 8.60e-05 | 30 |
hsa049794 | Liver | HCC | Cholesterol metabolism | 41/4020 | 51/8465 | 1.33e-06 | 1.35e-05 | 7.49e-06 | 41 |
hsa020102 | Liver | HCC | ABC transporters | 29/4020 | 45/8465 | 1.62e-02 | 3.88e-02 | 2.16e-02 | 29 |
hsa049795 | Liver | HCC | Cholesterol metabolism | 41/4020 | 51/8465 | 1.33e-06 | 1.35e-05 | 7.49e-06 | 41 |
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 |
ABCG8 | SNV | Missense_Mutation | c.1832N>A | p.Arg611Lys | p.R611K | Q9H221 | protein_coding | tolerated(0.29) | benign(0.021) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR | |
ABCG8 | SNV | Missense_Mutation | novel | c.1951N>G | p.Ser651Gly | p.S651G | Q9H221 | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ABCG8 | SNV | Missense_Mutation | rs766212636 | c.551N>A | p.Arg184His | p.R184H | Q9H221 | protein_coding | deleterious(0.03) | benign(0.284) | TCGA-F4-6459-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ABCG8 | SNV | Missense_Mutation | c.1739N>C | p.Leu580Ser | p.L580S | Q9H221 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ABCG8 | SNV | Missense_Mutation | rs762452685 | c.454N>T | p.Arg152Cys | p.R152C | Q9H221 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ABCG8 | SNV | Missense_Mutation | c.1832N>T | p.Arg611Ile | p.R611I | Q9H221 | protein_coding | tolerated(0.4) | benign(0.003) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ABCG8 | SNV | Missense_Mutation | rs776778929 | c.1789N>T | p.Arg597Trp | p.R597W | Q9H221 | protein_coding | deleterious(0.02) | probably_damaging(0.99) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCG8 | SNV | Missense_Mutation | novel | c.82T>C | p.Phe28Leu | p.F28L | Q9H221 | protein_coding | deleterious_low_confidence(0.04) | benign(0.105) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCG8 | SNV | Missense_Mutation | novel | c.480N>A | p.Asn160Lys | p.N160K | Q9H221 | protein_coding | deleterious(0.03) | possibly_damaging(0.734) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCG8 | SNV | Missense_Mutation | novel | c.1045N>C | p.Phe349Leu | p.F349L | Q9H221 | protein_coding | deleterious(0.03) | benign(0.113) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | 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 |
64241 | ABCG8 | DRUGGABLE GENOME, TRANSPORTER, ABC TRANSPORTER | atorvastatin | ATORVASTATIN | 16103896,15262185,20592455 |
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