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Gene: ABCA6 |
Gene summary for ABCA6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ABCA6 | Gene ID | 23460 |
| Gene name | ATP binding cassette subfamily A member 6 | |
| Gene Alias | EST155051 | |
| Cytomap | 17q24.2-q24.3 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q8N139 |
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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 |
| 23460 | ABCA6 | NAFLD1 | Human | Liver | NAFLD | 4.05e-14 | 1.20e+00 | -0.04 |
| 23460 | ABCA6 | S41 | Human | Liver | Cirrhotic | 5.86e-05 | 6.64e-01 | -0.0343 |
| 23460 | ABCA6 | HCC1_Meng | Human | Liver | HCC | 8.76e-12 | -2.40e-01 | 0.0246 |
| 23460 | ABCA6 | HCC2_Meng | Human | Liver | HCC | 1.41e-06 | -2.37e-01 | 0.0107 |
| 23460 | ABCA6 | cirrhotic1 | Human | Liver | Cirrhotic | 3.18e-05 | -2.06e-01 | 0.0202 |
| 23460 | ABCA6 | cirrhotic2 | Human | Liver | Cirrhotic | 3.50e-04 | -1.86e-01 | 0.0201 |
| 23460 | ABCA6 | Pt13.a | Human | Liver | HCC | 2.53e-04 | -2.01e-01 | 0.021 |
| 23460 | ABCA6 | Pt14.d | Human | Liver | HCC | 8.43e-03 | -1.84e-01 | 0.0143 |
| 23460 | ABCA6 | S014 | Human | Liver | HCC | 2.10e-02 | -2.49e-01 | 0.2254 |
| Page: 1 |
| Transcriptomic changes along malignancy continuum. |
| 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 |
| 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:00108765 | Liver | NAFLD | lipid localization | 79/1882 | 448/18723 | 4.75e-07 | 2.92e-05 | 79 |
| GO:00068694 | Liver | NAFLD | lipid transport | 71/1882 | 398/18723 | 1.16e-06 | 5.59e-05 | 71 |
| 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 |
| GO:001087621 | Liver | HCC | lipid localization | 228/7958 | 448/18723 | 1.80e-04 | 1.41e-03 | 228 |
| GO:000686921 | Liver | HCC | lipid transport | 198/7958 | 398/18723 | 1.92e-03 | 9.78e-03 | 198 |
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| 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 |
| ABCA6 | SNV | Missense_Mutation | c.3085N>G | p.Pro1029Ala | p.P1029A | Q8N139 | protein_coding | deleterious(0.01) | probably_damaging(0.951) | TCGA-A2-A0T0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD | |
| ABCA6 | SNV | Missense_Mutation | c.1692C>G | p.Phe564Leu | p.F564L | Q8N139 | protein_coding | tolerated(0.22) | benign(0.007) | TCGA-A8-A06T-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD | |
| ABCA6 | SNV | Missense_Mutation | c.4676N>T | p.Thr1559Ile | p.T1559I | Q8N139 | protein_coding | deleterious(0) | benign(0.019) | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | CR | ||
| ABCA6 | SNV | Missense_Mutation | c.906N>G | p.Ile302Met | p.I302M | Q8N139 | protein_coding | tolerated(0.25) | benign(0.043) | TCGA-A8-A07W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD | |
| ABCA6 | SNV | Missense_Mutation | novel | c.1706N>G | p.Asp569Gly | p.D569G | Q8N139 | protein_coding | tolerated(0.25) | benign(0.308) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ABCA6 | SNV | Missense_Mutation | rs772884126 | c.733N>C | p.Glu245Gln | p.E245Q | Q8N139 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| ABCA6 | SNV | Missense_Mutation | rs138416476 | c.2987N>A | p.Arg996Gln | p.R996Q | Q8N139 | protein_coding | tolerated(0.91) | benign(0.024) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ABCA6 | SNV | Missense_Mutation | c.1356N>C | p.Glu452Asp | p.E452D | Q8N139 | protein_coding | tolerated(0.07) | benign(0.026) | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ABCA6 | SNV | Missense_Mutation | novel | c.1415N>G | p.Phe472Cys | p.F472C | Q8N139 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-EW-A1PC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
| ABCA6 | insertion | Frame_Shift_Ins | novel | c.2776_2777insTTTGTGCCAGTTTTGGGAAATTACTTTGTCAGCTACTACGTTACAT | p.His926LeufsTer25 | p.H926Lfs*25 | Q8N139 | protein_coding | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 |
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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 |
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