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Gene: ATP6V1E1 |
Gene summary for ATP6V1E1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | ATP6V1E1 | Gene ID | 529 |
Gene name | ATPase H+ transporting V1 subunit E1 | |
Gene Alias | ARCL2C | |
Cytomap | 22q11.21 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | P36543 |
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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 |
529 | ATP6V1E1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 3.29e-02 | 7.66e-02 | 0.0155 |
529 | ATP6V1E1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.00e-07 | 3.66e-01 | -0.1808 |
529 | ATP6V1E1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 3.03e-06 | 4.15e-01 | -0.0811 |
529 | ATP6V1E1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.40e-06 | 3.76e-01 | -0.1088 |
529 | ATP6V1E1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.21e-16 | 4.68e-01 | -0.1954 |
529 | ATP6V1E1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.05e-04 | 8.49e-01 | -0.2602 |
529 | ATP6V1E1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.88e-06 | 3.18e-01 | -0.1207 |
529 | ATP6V1E1 | HTA11_696_2000001011 | Human | Colorectum | AD | 6.94e-03 | 3.18e-01 | -0.1464 |
529 | ATP6V1E1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.16e-06 | 4.65e-01 | -0.059 |
529 | ATP6V1E1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.05e-02 | 4.45e-01 | -0.2061 |
529 | ATP6V1E1 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.24e-02 | 2.54e-01 | -0.0842 |
529 | ATP6V1E1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.12e-04 | 3.79e-01 | 0.294 |
529 | ATP6V1E1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.04e-10 | 4.89e-01 | 0.281 |
529 | ATP6V1E1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 5.93e-08 | 5.12e-01 | 0.3859 |
529 | ATP6V1E1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 7.37e-04 | 2.24e-01 | 0.2585 |
529 | ATP6V1E1 | A015-C-203 | Human | Colorectum | FAP | 3.66e-02 | -1.18e-01 | -0.1294 |
529 | ATP6V1E1 | A015-C-104 | Human | Colorectum | FAP | 4.01e-03 | -8.09e-02 | -0.1899 |
529 | ATP6V1E1 | A002-C-116 | Human | Colorectum | FAP | 1.95e-02 | -5.70e-02 | -0.0452 |
529 | ATP6V1E1 | LZE4T | Human | Esophagus | ESCC | 3.13e-16 | 4.84e-01 | 0.0811 |
529 | ATP6V1E1 | LZE5T | Human | Esophagus | ESCC | 2.66e-04 | 4.35e-01 | 0.0514 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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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:190260018 | Esophagus | ESCC | proton transmembrane transport | 88/8552 | 157/18723 | 5.62e-03 | 2.10e-02 | 88 |
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:001623621 | Liver | HCC | macroautophagy | 204/7958 | 291/18723 | 8.66e-22 | 1.41e-19 | 204 |
GO:001050621 | Liver | HCC | regulation of autophagy | 210/7958 | 317/18723 | 7.59e-18 | 8.45e-16 | 210 |
GO:001624111 | Liver | HCC | regulation of macroautophagy | 96/7958 | 141/18723 | 6.82e-10 | 2.14e-08 | 96 |
GO:19026007 | Liver | HCC | proton transmembrane transport | 87/7958 | 157/18723 | 7.27e-04 | 4.42e-03 | 87 |
GO:001623610 | Oral cavity | OSCC | macroautophagy | 192/7305 | 291/18723 | 7.01e-21 | 1.14e-18 | 192 |
GO:001050610 | Oral cavity | OSCC | regulation of autophagy | 198/7305 | 317/18723 | 1.63e-17 | 1.51e-15 | 198 |
GO:00162417 | Oral cavity | OSCC | regulation of macroautophagy | 96/7305 | 141/18723 | 2.33e-12 | 9.75e-11 | 96 |
GO:001623615 | Oral cavity | LP | macroautophagy | 135/4623 | 291/18723 | 4.71e-16 | 6.70e-14 | 135 |
GO:001050615 | Oral cavity | LP | regulation of autophagy | 132/4623 | 317/18723 | 1.82e-11 | 1.28e-09 | 132 |
GO:001624113 | Oral cavity | LP | regulation of macroautophagy | 61/4623 | 141/18723 | 1.00e-06 | 2.50e-05 | 61 |
GO:00162369 | Prostate | BPH | macroautophagy | 85/3107 | 291/18723 | 4.68e-08 | 1.29e-06 | 85 |
GO:190260015 | Prostate | BPH | proton transmembrane transport | 52/3107 | 157/18723 | 2.81e-07 | 6.06e-06 | 52 |
GO:00105069 | Prostate | BPH | regulation of autophagy | 86/3107 | 317/18723 | 1.29e-06 | 2.24e-05 | 86 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00190 | Colorectum | AD | Oxidative phosphorylation | 86/2092 | 134/8465 | 2.47e-22 | 2.76e-20 | 1.76e-20 | 86 |
hsa05110 | Colorectum | AD | Vibrio cholerae infection | 29/2092 | 50/8465 | 5.10e-07 | 7.12e-06 | 4.54e-06 | 29 |
hsa001901 | Colorectum | AD | Oxidative phosphorylation | 86/2092 | 134/8465 | 2.47e-22 | 2.76e-20 | 1.76e-20 | 86 |
hsa051101 | Colorectum | AD | Vibrio cholerae infection | 29/2092 | 50/8465 | 5.10e-07 | 7.12e-06 | 4.54e-06 | 29 |
hsa001902 | Colorectum | SER | Oxidative phosphorylation | 79/1580 | 134/8465 | 1.98e-25 | 1.64e-23 | 1.19e-23 | 79 |
hsa051102 | Colorectum | SER | Vibrio cholerae infection | 24/1580 | 50/8465 | 2.17e-06 | 3.13e-05 | 2.28e-05 | 24 |
hsa001903 | Colorectum | SER | Oxidative phosphorylation | 79/1580 | 134/8465 | 1.98e-25 | 1.64e-23 | 1.19e-23 | 79 |
hsa051103 | Colorectum | SER | Vibrio cholerae infection | 24/1580 | 50/8465 | 2.17e-06 | 3.13e-05 | 2.28e-05 | 24 |
hsa001904 | Colorectum | MSS | Oxidative phosphorylation | 79/1875 | 134/8465 | 1.89e-20 | 7.90e-19 | 4.84e-19 | 79 |
hsa051104 | Colorectum | MSS | Vibrio cholerae infection | 27/1875 | 50/8465 | 8.58e-07 | 1.20e-05 | 7.34e-06 | 27 |
hsa04150 | Colorectum | MSS | mTOR signaling pathway | 47/1875 | 156/8465 | 1.19e-02 | 3.99e-02 | 2.44e-02 | 47 |
hsa001905 | Colorectum | MSS | Oxidative phosphorylation | 79/1875 | 134/8465 | 1.89e-20 | 7.90e-19 | 4.84e-19 | 79 |
hsa051105 | Colorectum | MSS | Vibrio cholerae infection | 27/1875 | 50/8465 | 8.58e-07 | 1.20e-05 | 7.34e-06 | 27 |
hsa041501 | Colorectum | MSS | mTOR signaling pathway | 47/1875 | 156/8465 | 1.19e-02 | 3.99e-02 | 2.44e-02 | 47 |
hsa001908 | Colorectum | FAP | Oxidative phosphorylation | 44/1404 | 134/8465 | 2.56e-06 | 4.28e-05 | 2.60e-05 | 44 |
hsa051108 | Colorectum | FAP | Vibrio cholerae infection | 19/1404 | 50/8465 | 2.24e-04 | 1.92e-03 | 1.17e-03 | 19 |
hsa001909 | Colorectum | FAP | Oxidative phosphorylation | 44/1404 | 134/8465 | 2.56e-06 | 4.28e-05 | 2.60e-05 | 44 |
hsa051109 | Colorectum | FAP | Vibrio cholerae infection | 19/1404 | 50/8465 | 2.24e-04 | 1.92e-03 | 1.17e-03 | 19 |
hsa0019030 | Esophagus | HGIN | Oxidative phosphorylation | 68/1383 | 134/8465 | 1.73e-20 | 8.07e-19 | 6.41e-19 | 68 |
hsa00190113 | Esophagus | HGIN | Oxidative phosphorylation | 68/1383 | 134/8465 | 1.73e-20 | 8.07e-19 | 6.41e-19 | 68 |
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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 |
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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. |
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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 |
ATP6V1E1 | SNV | Missense_Mutation | novel | c.640G>T | p.Ala214Ser | p.A214S | P36543 | protein_coding | tolerated(0.12) | benign(0.014) | TCGA-D8-A27M-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate+5 | SD |
ATP6V1E1 | SNV | Missense_Mutation | novel | c.562N>T | p.Arg188Cys | p.R188C | P36543 | protein_coding | deleterious(0.03) | benign(0.022) | TCGA-E9-A22G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ATP6V1E1 | SNV | Missense_Mutation | novel | c.17N>T | p.Ala6Val | p.A6V | P36543 | protein_coding | tolerated(0.22) | benign(0.007) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ATP6V1E1 | SNV | Missense_Mutation | novel | c.562N>T | p.Arg188Cys | p.R188C | P36543 | protein_coding | deleterious(0.03) | benign(0.022) | TCGA-AA-3495-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ATP6V1E1 | SNV | Missense_Mutation | c.202N>G | p.Lys68Glu | p.K68E | P36543 | protein_coding | deleterious(0) | benign(0.394) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
ATP6V1E1 | SNV | Missense_Mutation | novel | c.562N>A | p.Arg188Ser | p.R188S | P36543 | protein_coding | tolerated(0.11) | benign(0.03) | TCGA-D5-6530-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ATP6V1E1 | SNV | Missense_Mutation | c.228G>A | p.Met76Ile | p.M76I | P36543 | protein_coding | tolerated(0.17) | benign(0.012) | TCGA-AJ-A23M-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | unknown | PD | |
ATP6V1E1 | SNV | Missense_Mutation | rs144829775 | c.392G>A | p.Arg131Gln | p.R131Q | P36543 | protein_coding | tolerated(0.48) | benign(0) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1E1 | SNV | Missense_Mutation | novel | c.545A>T | p.Glu182Val | p.E182V | P36543 | protein_coding | deleterious(0.04) | benign(0.145) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ATP6V1E1 | SNV | Missense_Mutation | c.27A>C | p.Gln9His | p.Q9H | P36543 | protein_coding | deleterious(0.02) | benign(0.443) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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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