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Gene: ATP13A2 |
Gene summary for ATP13A2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ATP13A2 | Gene ID | 23400 |
| Gene name | ATPase cation transporting 13A2 | |
| Gene Alias | CLN12 | |
| Cytomap | 1p36.13 | |
| Gene Type | protein-coding | GO ID | GO:0000296 | UniProtAcc | Q8N4D4 |
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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 |
| 23400 | ATP13A2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.64e-07 | 3.98e-01 | -0.1808 |
| 23400 | ATP13A2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.23e-10 | 4.57e-01 | -0.0811 |
| 23400 | ATP13A2 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.13e-02 | 1.87e-01 | -0.1954 |
| 23400 | ATP13A2 | HTA11_411_2000001011 | Human | Colorectum | SER | 9.55e-04 | 8.97e-01 | -0.2602 |
| 23400 | ATP13A2 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.81e-05 | 6.27e-01 | -0.2196 |
| 23400 | ATP13A2 | HTA11_696_2000001011 | Human | Colorectum | AD | 8.58e-06 | 3.09e-01 | -0.1464 |
| 23400 | ATP13A2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.16e-02 | 2.36e-01 | -0.059 |
| 23400 | ATP13A2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.89e-04 | 3.11e-01 | 0.3859 |
| 23400 | ATP13A2 | A002-C-016 | Human | Colorectum | FAP | 3.61e-02 | -5.41e-02 | 0.0521 |
| 23400 | ATP13A2 | LZE7T | Human | Esophagus | ESCC | 9.50e-06 | 2.56e-01 | 0.0667 |
| 23400 | ATP13A2 | LZE22T | Human | Esophagus | ESCC | 1.87e-04 | 3.08e-01 | 0.068 |
| 23400 | ATP13A2 | LZE24T | Human | Esophagus | ESCC | 1.44e-07 | 2.38e-01 | 0.0596 |
| 23400 | ATP13A2 | LZE21T | Human | Esophagus | ESCC | 5.05e-03 | 3.16e-01 | 0.0655 |
| 23400 | ATP13A2 | P1T-E | Human | Esophagus | ESCC | 5.02e-10 | 3.71e-01 | 0.0875 |
| 23400 | ATP13A2 | P2T-E | Human | Esophagus | ESCC | 3.91e-13 | 1.83e-01 | 0.1177 |
| 23400 | ATP13A2 | P4T-E | Human | Esophagus | ESCC | 1.09e-03 | 1.08e-01 | 0.1323 |
| 23400 | ATP13A2 | P5T-E | Human | Esophagus | ESCC | 1.04e-05 | 6.23e-02 | 0.1327 |
| 23400 | ATP13A2 | P8T-E | Human | Esophagus | ESCC | 2.57e-09 | 1.83e-01 | 0.0889 |
| 23400 | ATP13A2 | P9T-E | Human | Esophagus | ESCC | 4.46e-03 | 1.61e-01 | 0.1131 |
| 23400 | ATP13A2 | P10T-E | Human | Esophagus | ESCC | 4.23e-11 | 2.12e-01 | 0.116 |
| Page: 1 2 3 4 5 |
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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:0062197 | Colorectum | AD | cellular response to chemical stress | 109/3918 | 337/18723 | 5.33e-07 | 1.95e-05 | 109 |
| GO:0033157 | Colorectum | AD | regulation of intracellular protein transport | 80/3918 | 229/18723 | 5.81e-07 | 2.09e-05 | 80 |
| GO:0140112 | Colorectum | AD | extracellular vesicle biogenesis | 16/3918 | 23/18723 | 7.04e-07 | 2.49e-05 | 16 |
| GO:0070997 | Colorectum | AD | neuron death | 114/3918 | 361/18723 | 1.13e-06 | 3.72e-05 | 114 |
| GO:1903541 | Colorectum | AD | regulation of exosomal secretion | 13/3918 | 17/18723 | 1.46e-06 | 4.58e-05 | 13 |
| GO:1903008 | Colorectum | AD | organelle disassembly | 46/3918 | 114/18723 | 1.81e-06 | 5.48e-05 | 46 |
| GO:0055076 | Colorectum | AD | transition metal ion homeostasis | 53/3918 | 138/18723 | 1.89e-06 | 5.65e-05 | 53 |
| GO:0034599 | Colorectum | AD | cellular response to oxidative stress | 94/3918 | 288/18723 | 2.03e-06 | 6.02e-05 | 94 |
| GO:0034504 | Colorectum | AD | protein localization to nucleus | 94/3918 | 290/18723 | 2.83e-06 | 8.09e-05 | 94 |
| GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
| GO:1903146 | Colorectum | AD | regulation of autophagy of mitochondrion | 19/3918 | 33/18723 | 4.52e-06 | 1.21e-04 | 19 |
| GO:0000422 | Colorectum | AD | autophagy of mitochondrion | 35/3918 | 81/18723 | 4.94e-06 | 1.29e-04 | 35 |
| GO:0061726 | Colorectum | AD | mitochondrion disassembly | 35/3918 | 81/18723 | 4.94e-06 | 1.29e-04 | 35 |
| GO:1901214 | Colorectum | AD | regulation of neuron death | 99/3918 | 319/18723 | 1.26e-05 | 2.76e-04 | 99 |
| GO:1903543 | Colorectum | AD | positive regulation of exosomal secretion | 11/3918 | 15/18723 | 1.95e-05 | 4.01e-04 | 11 |
| GO:0046777 | Colorectum | AD | protein autophosphorylation | 74/3918 | 227/18723 | 2.48e-05 | 4.76e-04 | 74 |
| GO:0046916 | Colorectum | AD | cellular transition metal ion homeostasis | 43/3918 | 115/18723 | 3.62e-05 | 6.56e-04 | 43 |
| GO:0016241 | Colorectum | AD | regulation of macroautophagy | 50/3918 | 141/18723 | 4.55e-05 | 7.92e-04 | 50 |
| GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
| GO:0050708 | Colorectum | AD | regulation of protein secretion | 83/3918 | 268/18723 | 6.59e-05 | 1.07e-03 | 83 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 |
| 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 |
| ATP13A2 | SNV | Missense_Mutation | novel | c.833N>G | p.Thr278Ser | p.T278S | Q9NQ11 | protein_coding | tolerated(0.08) | probably_damaging(0.969) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
| ATP13A2 | SNV | Missense_Mutation | rs754208001 | c.2368G>A | p.Glu790Lys | p.E790K | Q9NQ11 | protein_coding | tolerated(0.94) | benign(0.007) | TCGA-D8-A27L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin+cuclophosphamide | SD |
| ATP13A2 | insertion | Frame_Shift_Ins | novel | c.2507_2508insGACTCCGTCTCAAAAAATAGTAATAGGCCAGGCGCGGT | p.His836GlnfsTer64 | p.H836Qfs*64 | Q9NQ11 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
| ATP13A2 | deletion | Frame_Shift_Del | novel | c.1750delG | p.Val584SerfsTer19 | p.V584Sfs*19 | Q9NQ11 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| ATP13A2 | SNV | Missense_Mutation | rs776601823 | c.515G>A | p.Arg172His | p.R172H | Q9NQ11 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ATP13A2 | SNV | Missense_Mutation | rs144701072 | c.2629N>A | p.Gly877Arg | p.G877R | Q9NQ11 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| ATP13A2 | SNV | Missense_Mutation | c.853N>G | p.Leu285Val | p.L285V | Q9NQ11 | protein_coding | deleterious(0) | possibly_damaging(0.856) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| ATP13A2 | SNV | Missense_Mutation | rs776601823 | c.515G>A | p.Arg172His | p.R172H | Q9NQ11 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-JW-AAVH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| ATP13A2 | SNV | Missense_Mutation | c.278G>A | p.Arg93Lys | p.R93K | Q9NQ11 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| ATP13A2 | SNV | Missense_Mutation | c.151C>T | p.His51Tyr | p.H51Y | Q9NQ11 | protein_coding | tolerated(0.27) | benign(0.023) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 |
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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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