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Gene: ATP13A3 |
Gene summary for ATP13A3 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ATP13A3 | Gene ID | 79572 |
| Gene name | ATPase 13A3 | |
| Gene Alias | AFURS1 | |
| Cytomap | 3q29 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q9H7F0 |
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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 |
| 79572 | ATP13A3 | CCI_1 | Human | Cervix | CC | 6.64e-09 | 7.38e-01 | 0.528 |
| 79572 | ATP13A3 | CCI_2 | Human | Cervix | CC | 2.14e-17 | 1.74e+00 | 0.5249 |
| 79572 | ATP13A3 | CCI_3 | Human | Cervix | CC | 1.63e-09 | 7.80e-01 | 0.516 |
| 79572 | ATP13A3 | sample3 | Human | Cervix | CC | 5.68e-03 | 1.79e-01 | 0.1387 |
| 79572 | ATP13A3 | T1 | Human | Cervix | CC | 2.75e-16 | 5.36e-01 | 0.0918 |
| 79572 | ATP13A3 | AEH-subject1 | Human | Endometrium | AEH | 2.44e-10 | 3.44e-01 | -0.3059 |
| 79572 | ATP13A3 | AEH-subject4 | Human | Endometrium | AEH | 2.17e-11 | 5.03e-01 | -0.2657 |
| 79572 | ATP13A3 | AEH-subject5 | Human | Endometrium | AEH | 1.31e-07 | 3.73e-01 | -0.2953 |
| 79572 | ATP13A3 | EEC-subject1 | Human | Endometrium | EEC | 7.32e-10 | 4.05e-01 | -0.2682 |
| 79572 | ATP13A3 | EEC-subject3 | Human | Endometrium | EEC | 1.97e-03 | 3.19e-01 | -0.2525 |
| 79572 | ATP13A3 | EEC-subject5 | Human | Endometrium | EEC | 1.92e-02 | 2.68e-01 | -0.249 |
| 79572 | ATP13A3 | GSM5276934 | Human | Endometrium | EEC | 6.20e-17 | 5.25e-01 | -0.0913 |
| 79572 | ATP13A3 | GSM5276937 | Human | Endometrium | EEC | 6.08e-25 | 6.76e-01 | -0.0897 |
| 79572 | ATP13A3 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 5.75e-06 | 1.04e-01 | -0.1869 |
| 79572 | ATP13A3 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 1.92e-06 | 1.03e-01 | -0.1875 |
| 79572 | ATP13A3 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 6.64e-10 | 6.41e-02 | -0.1883 |
| 79572 | ATP13A3 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 2.38e-02 | 1.07e-01 | -0.1934 |
| 79572 | ATP13A3 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 6.45e-06 | 9.82e-03 | -0.1917 |
| 79572 | ATP13A3 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 6.78e-08 | 1.15e-02 | -0.1916 |
| 79572 | ATP13A3 | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 2.53e-03 | 2.75e-01 | -0.1269 |
| Page: 1 2 3 4 5 6 7 8 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| 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:00725032 | Oral cavity | EOLP | cellular divalent inorganic cation homeostasis | 75/2218 | 486/18723 | 9.77e-03 | 4.42e-02 | 75 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| ATP13A3 | SNV | Missense_Mutation | novel | c.2949G>A | p.Met983Ile | p.M983I | Q9H7F0 | protein_coding | deleterious(0.03) | benign(0.04) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| ATP13A3 | SNV | Missense_Mutation | novel | c.3428N>A | p.Arg1143His | p.R1143H | Q9H7F0 | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ATP13A3 | SNV | Missense_Mutation | novel | c.3065N>A | p.Ser1022Tyr | p.S1022Y | Q9H7F0 | protein_coding | deleterious(0) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ATP13A3 | SNV | Missense_Mutation | novel | c.601C>T | p.Pro201Ser | p.P201S | Q9H7F0 | protein_coding | tolerated(0.07) | benign(0.18) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
| ATP13A3 | SNV | Missense_Mutation | rs773074163 | c.1960G>A | p.Ala654Thr | p.A654T | Q9H7F0 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ATP13A3 | SNV | Missense_Mutation | novel | c.3343T>C | p.Tyr1115His | p.Y1115H | Q9H7F0 | protein_coding | deleterious(0.05) | benign(0.289) | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
| ATP13A3 | SNV | Missense_Mutation | rs773710020 | c.3572N>T | p.Ala1191Val | p.A1191V | Q9H7F0 | protein_coding | tolerated(0.13) | possibly_damaging(0.709) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ATP13A3 | SNV | Missense_Mutation | c.1262N>T | p.Ala421Val | p.A421V | Q9H7F0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ATP13A3 | SNV | Missense_Mutation | novel | c.3329C>T | p.Ser1110Phe | p.S1110F | Q9H7F0 | protein_coding | tolerated(0.71) | possibly_damaging(0.498) | TCGA-D8-A73U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
| ATP13A3 | SNV | Missense_Mutation | c.2573G>A | p.Arg858His | p.R858H | Q9H7F0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1RF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
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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 |
| Page: 1 |
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