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Gene: ABCA5 |
Gene summary for ABCA5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ABCA5 | Gene ID | 23461 |
| Gene name | ATP binding cassette subfamily A member 5 | |
| Gene Alias | ABC13 | |
| Cytomap | 17q24.3 | |
| Gene Type | protein-coding | GO ID | GO:0006066 | UniProtAcc | Q8WWZ7 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 23461 | ABCA5 | HTA11_3410_2000001011 | Human | Colorectum | AD | 6.01e-16 | -5.70e-01 | 0.0155 |
| 23461 | ABCA5 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.74e-03 | -5.82e-01 | -0.0179 |
| 23461 | ABCA5 | HTA11_866_3004761011 | Human | Colorectum | AD | 3.03e-09 | -5.15e-01 | 0.096 |
| 23461 | ABCA5 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.64e-04 | -5.09e-01 | 0.0338 |
| 23461 | ABCA5 | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.97e-15 | -5.27e-01 | 0.0674 |
| 23461 | ABCA5 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.05e-06 | -4.08e-01 | 0.294 |
| 23461 | ABCA5 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 7.86e-10 | -4.54e-01 | 0.3859 |
| 23461 | ABCA5 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 2.34e-03 | -5.39e-01 | 0.2585 |
| 23461 | ABCA5 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 3.49e-17 | -5.28e-01 | 0.3005 |
| 23461 | ABCA5 | A002-C-010 | Human | Colorectum | FAP | 2.46e-05 | -2.88e-01 | 0.242 |
| 23461 | ABCA5 | A015-C-203 | Human | Colorectum | FAP | 1.24e-18 | -1.75e-01 | -0.1294 |
| 23461 | ABCA5 | A002-C-201 | Human | Colorectum | FAP | 6.06e-09 | -1.89e-01 | 0.0324 |
| 23461 | ABCA5 | A001-C-119 | Human | Colorectum | FAP | 5.10e-05 | -3.36e-01 | -0.1557 |
| 23461 | ABCA5 | A001-C-108 | Human | Colorectum | FAP | 5.64e-10 | -2.24e-01 | -0.0272 |
| 23461 | ABCA5 | A002-C-205 | Human | Colorectum | FAP | 3.50e-15 | -3.96e-01 | -0.1236 |
| 23461 | ABCA5 | A015-C-006 | Human | Colorectum | FAP | 5.01e-12 | -5.27e-01 | -0.0994 |
| 23461 | ABCA5 | A015-C-106 | Human | Colorectum | FAP | 1.39e-07 | -1.77e-01 | -0.0511 |
| 23461 | ABCA5 | A002-C-114 | Human | Colorectum | FAP | 5.26e-10 | -2.32e-01 | -0.1561 |
| 23461 | ABCA5 | A015-C-104 | Human | Colorectum | FAP | 1.73e-16 | -2.27e-01 | -0.1899 |
| 23461 | ABCA5 | A001-C-014 | Human | Colorectum | FAP | 2.10e-05 | -7.88e-02 | 0.0135 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| 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: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:00718252 | Liver | NAFLD | protein-lipid complex subunit organization | 17/1882 | 50/18723 | 3.92e-06 | 1.54e-04 | 17 |
| GO:0008203 | Liver | NAFLD | cholesterol metabolic process | 32/1882 | 137/18723 | 4.28e-06 | 1.66e-04 | 32 |
| GO:00718272 | Liver | NAFLD | plasma lipoprotein particle organization | 16/1882 | 46/18723 | 5.37e-06 | 1.95e-04 | 16 |
| GO:0016125 | Liver | NAFLD | sterol metabolic process | 34/1882 | 152/18723 | 6.02e-06 | 2.11e-04 | 34 |
| GO:00436912 | Liver | NAFLD | reverse cholesterol transport | 10/1882 | 20/18723 | 7.37e-06 | 2.55e-04 | 10 |
| GO:1902652 | Liver | NAFLD | secondary alcohol metabolic process | 33/1882 | 147/18723 | 7.57e-06 | 2.56e-04 | 33 |
| GO:00060666 | Liver | NAFLD | alcohol metabolic process | 62/1882 | 353/18723 | 9.01e-06 | 2.96e-04 | 62 |
| GO:0033344 | Liver | NAFLD | cholesterol efflux | 20/1882 | 69/18723 | 9.13e-06 | 2.98e-04 | 20 |
| GO:00343682 | Liver | NAFLD | protein-lipid complex remodeling | 12/1882 | 30/18723 | 1.58e-05 | 4.56e-04 | 12 |
| GO:00343692 | Liver | NAFLD | plasma lipoprotein particle remodeling | 12/1882 | 30/18723 | 1.58e-05 | 4.56e-04 | 12 |
| GO:00343672 | Liver | NAFLD | protein-containing complex remodeling | 12/1882 | 32/18723 | 3.40e-05 | 8.80e-04 | 12 |
| 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 |
| Page: 1 2 3 4 5 |
| Enriched KEGG pathways. |
| 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 |
| 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 |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| ABCA5 | SNV | Missense_Mutation | novel | c.3905A>G | p.Lys1302Arg | p.K1302R | Q8WWZ7 | protein_coding | tolerated(0.25) | benign(0) | TCGA-A2-A0CO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
| ABCA5 | SNV | Missense_Mutation | novel | c.1603N>A | p.Asp535Asn | p.D535N | Q8WWZ7 | protein_coding | tolerated(0.19) | benign(0.152) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| ABCA5 | SNV | Missense_Mutation | rs369202022 | c.4316N>A | p.Arg1439Gln | p.R1439Q | Q8WWZ7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ABCA5 | SNV | Missense_Mutation | novel | c.1436N>A | p.Arg479Lys | p.R479K | Q8WWZ7 | protein_coding | deleterious(0.01) | probably_damaging(0.91) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ABCA5 | SNV | Missense_Mutation | c.4715C>T | p.Pro1572Leu | p.P1572L | Q8WWZ7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-B6-A1KI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ABCA5 | SNV | Missense_Mutation | c.119N>C | p.Leu40Pro | p.L40P | Q8WWZ7 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ABCA5 | SNV | Missense_Mutation | c.2150N>G | p.Tyr717Cys | p.Y717C | Q8WWZ7 | protein_coding | tolerated(0.18) | possibly_damaging(0.619) | TCGA-C8-A12M-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ABCA5 | SNV | Missense_Mutation | c.3053A>G | p.Lys1018Arg | p.K1018R | Q8WWZ7 | protein_coding | tolerated(0.4) | benign(0.007) | TCGA-C8-A1HI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| ABCA5 | SNV | Missense_Mutation | c.1657G>A | p.Glu553Lys | p.E553K | Q8WWZ7 | protein_coding | tolerated(0.06) | possibly_damaging(0.908) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| ABCA5 | SNV | Missense_Mutation | novel | c.983G>A | p.Gly328Glu | p.G328E | Q8WWZ7 | protein_coding | deleterious(0.04) | probably_damaging(0.991) | TCGA-D8-A73U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 23461 | ABCA5 | TRANSPORTER, ABC TRANSPORTER, DRUGGABLE GENOME | LIM-0705 | QUERCETIN-3'-O-PHOSPHATE |
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