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Gene: ABCA9 |
Gene summary for ABCA9 |
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Gene information | Species | Human | Gene symbol | ABCA9 | Gene ID | 10350 |
Gene name | ATP binding cassette subfamily A member 9 | |
Gene Alias | EST640918 | |
Cytomap | 17q24.2 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q8IUA7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10350 | ABCA9 | NAFLD1 | Human | Liver | NAFLD | 1.15e-09 | 9.59e-01 | -0.04 |
10350 | ABCA9 | S41 | Human | Liver | Cirrhotic | 1.39e-05 | 5.97e-01 | -0.0343 |
10350 | ABCA9 | HCC1_Meng | Human | Liver | HCC | 2.55e-03 | -1.11e-01 | 0.0246 |
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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: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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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 |
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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 |
ABCA9 | SNV | Missense_Mutation | c.2401N>C | p.Asp801His | p.D801H | Q8IUA7 | protein_coding | deleterious(0.01) | possibly_damaging(0.853) | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD | |
ABCA9 | SNV | Missense_Mutation | c.4561N>G | p.Lys1521Glu | p.K1521E | Q8IUA7 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A25B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | PD | |
ABCA9 | SNV | Missense_Mutation | c.2201T>C | p.Ile734Thr | p.I734T | Q8IUA7 | protein_coding | deleterious(0) | possibly_damaging(0.852) | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
ABCA9 | SNV | Missense_Mutation | rs763208154 | c.4159G>A | p.Ala1387Thr | p.A1387T | Q8IUA7 | protein_coding | tolerated(0.06) | probably_damaging(0.957) | TCGA-A8-A06U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCA9 | SNV | Missense_Mutation | novel | c.2060N>G | p.Val687Gly | p.V687G | Q8IUA7 | protein_coding | deleterious(0) | benign(0.161) | TCGA-A8-A0A6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | CR |
ABCA9 | SNV | Missense_Mutation | c.4301N>T | p.Ser1434Ile | p.S1434I | Q8IUA7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ABCA9 | SNV | Missense_Mutation | novel | c.1516N>T | p.Asp506Tyr | p.D506Y | Q8IUA7 | protein_coding | deleterious(0) | possibly_damaging(0.872) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCA9 | SNV | Missense_Mutation | c.278A>C | p.Lys93Thr | p.K93T | Q8IUA7 | protein_coding | deleterious(0.03) | benign(0.395) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ABCA9 | SNV | Missense_Mutation | c.3960N>C | p.Glu1320Asp | p.E1320D | Q8IUA7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A1AO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
ABCA9 | SNV | Missense_Mutation | c.1171N>T | p.Asp391Tyr | p.D391Y | Q8IUA7 | protein_coding | tolerated(0.15) | benign(0.114) | TCGA-AR-A2LL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | 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 |
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