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Gene: ATP6V0A1 |
Gene summary for ATP6V0A1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ATP6V0A1 | Gene ID | 535 |
| Gene name | ATPase H+ transporting V0 subunit a1 | |
| Gene Alias | ATP6N1 | |
| Cytomap | 17q21.2 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q53ET5 |
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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 |
| 535 | ATP6V0A1 | LZE4T | Human | Esophagus | ESCC | 4.77e-08 | 2.63e-01 | 0.0811 |
| 535 | ATP6V0A1 | LZE7T | Human | Esophagus | ESCC | 7.50e-03 | 1.04e-01 | 0.0667 |
| 535 | ATP6V0A1 | LZE8T | Human | Esophagus | ESCC | 2.82e-02 | 5.50e-02 | 0.067 |
| 535 | ATP6V0A1 | LZE22T | Human | Esophagus | ESCC | 1.06e-06 | 2.54e-01 | 0.068 |
| 535 | ATP6V0A1 | LZE24T | Human | Esophagus | ESCC | 8.95e-16 | 3.31e-01 | 0.0596 |
| 535 | ATP6V0A1 | P1T-E | Human | Esophagus | ESCC | 9.53e-07 | 4.71e-01 | 0.0875 |
| 535 | ATP6V0A1 | P2T-E | Human | Esophagus | ESCC | 6.25e-11 | 1.57e-01 | 0.1177 |
| 535 | ATP6V0A1 | P4T-E | Human | Esophagus | ESCC | 1.53e-18 | 4.27e-01 | 0.1323 |
| 535 | ATP6V0A1 | P5T-E | Human | Esophagus | ESCC | 3.88e-29 | 5.00e-01 | 0.1327 |
| 535 | ATP6V0A1 | P8T-E | Human | Esophagus | ESCC | 2.15e-15 | 2.49e-01 | 0.0889 |
| 535 | ATP6V0A1 | P9T-E | Human | Esophagus | ESCC | 1.34e-12 | 1.60e-01 | 0.1131 |
| 535 | ATP6V0A1 | P10T-E | Human | Esophagus | ESCC | 2.09e-06 | 1.04e-01 | 0.116 |
| 535 | ATP6V0A1 | P11T-E | Human | Esophagus | ESCC | 7.27e-07 | 2.54e-01 | 0.1426 |
| 535 | ATP6V0A1 | P12T-E | Human | Esophagus | ESCC | 7.75e-24 | 4.20e-01 | 0.1122 |
| 535 | ATP6V0A1 | P15T-E | Human | Esophagus | ESCC | 1.65e-19 | 3.89e-01 | 0.1149 |
| 535 | ATP6V0A1 | P16T-E | Human | Esophagus | ESCC | 9.14e-07 | 1.36e-01 | 0.1153 |
| 535 | ATP6V0A1 | P19T-E | Human | Esophagus | ESCC | 1.45e-02 | 3.51e-01 | 0.1662 |
| 535 | ATP6V0A1 | P20T-E | Human | Esophagus | ESCC | 3.48e-16 | 3.20e-01 | 0.1124 |
| 535 | ATP6V0A1 | P21T-E | Human | Esophagus | ESCC | 3.19e-08 | 1.83e-01 | 0.1617 |
| 535 | ATP6V0A1 | P22T-E | Human | Esophagus | ESCC | 1.41e-09 | 1.63e-01 | 0.1236 |
| Page: 1 2 3 4 5 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
| GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
| GO:001624114 | Esophagus | ESCC | regulation of macroautophagy | 102/8552 | 141/18723 | 1.09e-10 | 3.27e-09 | 102 |
| GO:00070353 | Esophagus | ESCC | vacuolar acidification | 20/8552 | 24/18723 | 1.69e-04 | 1.11e-03 | 20 |
| GO:19019987 | Esophagus | ESCC | toxin transport | 28/8552 | 40/18723 | 1.61e-03 | 7.50e-03 | 28 |
| GO:00514521 | Esophagus | ESCC | intracellular pH reduction | 29/8552 | 42/18723 | 1.87e-03 | 8.46e-03 | 29 |
| GO:00458511 | Esophagus | ESCC | pH reduction | 31/8552 | 46/18723 | 2.42e-03 | 1.06e-02 | 31 |
| GO:190260018 | Esophagus | ESCC | proton transmembrane transport | 88/8552 | 157/18723 | 5.62e-03 | 2.10e-02 | 88 |
| GO:00105065 | Liver | NAFLD | regulation of autophagy | 57/1882 | 317/18723 | 1.00e-05 | 3.18e-04 | 57 |
| GO:00162365 | Liver | NAFLD | macroautophagy | 45/1882 | 291/18723 | 2.31e-03 | 2.19e-02 | 45 |
| GO:001623611 | Liver | Cirrhotic | macroautophagy | 129/4634 | 291/18723 | 1.75e-13 | 1.41e-11 | 129 |
| GO:001050611 | Liver | Cirrhotic | regulation of autophagy | 132/4634 | 317/18723 | 2.17e-11 | 1.33e-09 | 132 |
| GO:00162414 | Liver | Cirrhotic | regulation of macroautophagy | 60/4634 | 141/18723 | 2.57e-06 | 4.63e-05 | 60 |
| GO:0007035 | Liver | Cirrhotic | vacuolar acidification | 15/4634 | 24/18723 | 9.76e-05 | 1.03e-03 | 15 |
| GO:0051452 | Liver | Cirrhotic | intracellular pH reduction | 21/4634 | 42/18723 | 3.57e-04 | 3.03e-03 | 21 |
| GO:0045851 | Liver | Cirrhotic | pH reduction | 22/4634 | 46/18723 | 5.75e-04 | 4.48e-03 | 22 |
| GO:00300045 | Liver | Cirrhotic | cellular monovalent inorganic cation homeostasis | 38/4634 | 103/18723 | 4.02e-03 | 2.17e-02 | 38 |
| GO:00306415 | Liver | Cirrhotic | regulation of cellular pH | 31/4634 | 81/18723 | 4.76e-03 | 2.50e-02 | 31 |
| GO:00068853 | Liver | Cirrhotic | regulation of pH | 33/4634 | 91/18723 | 9.39e-03 | 4.29e-02 | 33 |
| GO:001623621 | Liver | HCC | macroautophagy | 204/7958 | 291/18723 | 8.66e-22 | 1.41e-19 | 204 |
| Page: 1 2 3 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa00190210 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
| hsa0414222 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
| hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
| hsa0512018 | Esophagus | ESCC | Epithelial cell signaling in Helicobacter pylori infection | 52/4205 | 70/8465 | 2.17e-05 | 1.07e-04 | 5.47e-05 | 52 |
| hsa0414530 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
| hsa051527 | Esophagus | ESCC | Tuberculosis | 111/4205 | 180/8465 | 7.14e-04 | 2.32e-03 | 1.19e-03 | 111 |
| hsa0532320 | Esophagus | ESCC | Rheumatoid arthritis | 59/4205 | 93/8465 | 4.98e-03 | 1.27e-02 | 6.52e-03 | 59 |
| hsa0511028 | Esophagus | ESCC | Vibrio cholerae infection | 34/4205 | 50/8465 | 6.62e-03 | 1.62e-02 | 8.30e-03 | 34 |
| hsa0019038 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
| hsa0414232 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
| hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
| hsa0512019 | Esophagus | ESCC | Epithelial cell signaling in Helicobacter pylori infection | 52/4205 | 70/8465 | 2.17e-05 | 1.07e-04 | 5.47e-05 | 52 |
| hsa04145114 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
| hsa0515212 | Esophagus | ESCC | Tuberculosis | 111/4205 | 180/8465 | 7.14e-04 | 2.32e-03 | 1.19e-03 | 111 |
| hsa05323110 | Esophagus | ESCC | Rheumatoid arthritis | 59/4205 | 93/8465 | 4.98e-03 | 1.27e-02 | 6.52e-03 | 59 |
| hsa05110112 | Esophagus | ESCC | Vibrio cholerae infection | 34/4205 | 50/8465 | 6.62e-03 | 1.62e-02 | 8.30e-03 | 34 |
| hsa0019014 | Liver | Cirrhotic | Oxidative phosphorylation | 83/2530 | 134/8465 | 1.03e-14 | 3.44e-13 | 2.12e-13 | 83 |
| hsa041424 | Liver | Cirrhotic | Lysosome | 68/2530 | 132/8465 | 1.34e-07 | 1.97e-06 | 1.21e-06 | 68 |
| hsa0414514 | Liver | Cirrhotic | Phagosome | 73/2530 | 152/8465 | 1.61e-06 | 1.78e-05 | 1.10e-05 | 73 |
| hsa0511010 | Liver | Cirrhotic | Vibrio cholerae infection | 29/2530 | 50/8465 | 3.19e-05 | 2.47e-04 | 1.52e-04 | 29 |
| Page: 1 2 3 |
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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 |
| ATP6V0A1 | SNV | Missense_Mutation | c.487N>A | p.Glu163Lys | p.E163K | Q93050 | protein_coding | tolerated(0.21) | benign(0.01) | TCGA-A7-A13D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| ATP6V0A1 | SNV | Missense_Mutation | novel | c.112N>T | p.Arg38Cys | p.R38C | Q93050 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ATP6V0A1 | SNV | Missense_Mutation | c.2393N>T | p.Ser798Leu | p.S798L | Q93050 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| ATP6V0A1 | SNV | Missense_Mutation | c.2345N>T | p.Ala782Val | p.A782V | Q93050 | protein_coding | tolerated(0.78) | benign(0.057) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ATP6V0A1 | SNV | Missense_Mutation | c.1427N>T | p.Ser476Phe | p.S476F | Q93050 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD | |
| ATP6V0A1 | SNV | Missense_Mutation | c.1813N>T | p.Asp605Tyr | p.D605Y | Q93050 | protein_coding | tolerated(0.08) | benign(0.005) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| ATP6V0A1 | insertion | Frame_Shift_Ins | novel | c.1023_1024insCTGCCTC | p.Phe342LeufsTer33 | p.F342Lfs*33 | Q93050 | protein_coding | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | ||
| ATP6V0A1 | insertion | In_Frame_Ins | novel | c.1025_1026insTCCACCCTCTCCTGATGC | p.Phe342_Ala343insProProSerProAspAla | p.F342_A343insPPSPDA | Q93050 | protein_coding | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | ||
| ATP6V0A1 | SNV | Missense_Mutation | novel | c.766N>A | p.Glu256Lys | p.E256K | Q93050 | protein_coding | deleterious(0.04) | benign(0.1) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
| ATP6V0A1 | SNV | Missense_Mutation | c.818N>C | p.Asp273Ala | p.D273A | Q93050 | protein_coding | tolerated(0.05) | benign(0.015) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 |
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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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