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Gene: ATP6V1E1 |
Gene summary for ATP6V1E1 |
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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 |
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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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∗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:1902600 | Colorectum | AD | proton transmembrane transport | 66/3918 | 157/18723 | 1.59e-09 | 1.17e-07 | 66 |
GO:0010506 | Colorectum | AD | regulation of autophagy | 111/3918 | 317/18723 | 3.57e-09 | 2.35e-07 | 111 |
GO:0016236 | Colorectum | AD | macroautophagy | 103/3918 | 291/18723 | 6.76e-09 | 4.15e-07 | 103 |
GO:0016241 | Colorectum | AD | regulation of macroautophagy | 50/3918 | 141/18723 | 4.55e-05 | 7.92e-04 | 50 |
GO:19026001 | Colorectum | SER | proton transmembrane transport | 60/2897 | 157/18723 | 3.12e-12 | 7.08e-10 | 60 |
GO:00162361 | Colorectum | SER | macroautophagy | 79/2897 | 291/18723 | 1.97e-07 | 1.10e-05 | 79 |
GO:00105061 | Colorectum | SER | regulation of autophagy | 74/2897 | 317/18723 | 1.39e-04 | 2.77e-03 | 74 |
GO:00162411 | Colorectum | SER | regulation of macroautophagy | 34/2897 | 141/18723 | 4.74e-03 | 3.72e-02 | 34 |
GO:00162362 | Colorectum | MSS | macroautophagy | 93/3467 | 291/18723 | 2.08e-08 | 1.17e-06 | 93 |
GO:19026002 | Colorectum | MSS | proton transmembrane transport | 57/3467 | 157/18723 | 1.00e-07 | 4.81e-06 | 57 |
GO:00105062 | Colorectum | MSS | regulation of autophagy | 95/3467 | 317/18723 | 4.36e-07 | 1.71e-05 | 95 |
GO:00162412 | Colorectum | MSS | regulation of macroautophagy | 44/3467 | 141/18723 | 1.88e-04 | 2.64e-03 | 44 |
GO:00105063 | Colorectum | FAP | regulation of autophagy | 80/2622 | 317/18723 | 6.43e-08 | 4.54e-06 | 80 |
GO:00162363 | Colorectum | FAP | macroautophagy | 70/2622 | 291/18723 | 2.73e-06 | 1.02e-04 | 70 |
GO:00162413 | Colorectum | FAP | regulation of macroautophagy | 38/2622 | 141/18723 | 3.78e-05 | 8.13e-04 | 38 |
GO:19026004 | Colorectum | FAP | proton transmembrane transport | 39/2622 | 157/18723 | 2.03e-04 | 2.92e-03 | 39 |
GO:001050616 | Esophagus | HGIN | regulation of autophagy | 84/2587 | 317/18723 | 1.39e-09 | 1.08e-07 | 84 |
GO:001623616 | Esophagus | HGIN | macroautophagy | 77/2587 | 291/18723 | 7.15e-09 | 4.61e-07 | 77 |
GO:190260017 | Esophagus | HGIN | proton transmembrane transport | 43/2587 | 157/18723 | 5.51e-06 | 1.75e-04 | 43 |
GO:00162418 | Esophagus | HGIN | regulation of macroautophagy | 38/2587 | 141/18723 | 2.80e-05 | 7.21e-04 | 38 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516533 | Oral cavity | LP | Human papillomavirus infection | 121/2418 | 331/8465 | 8.00e-04 | 3.86e-03 | 2.49e-03 | 121 |
hsa0511036 | Oral cavity | LP | Vibrio cholerae infection | 25/2418 | 50/8465 | 1.07e-03 | 4.90e-03 | 3.16e-03 | 25 |
hsa051658 | Prostate | BPH | Human papillomavirus infection | 111/1718 | 331/8465 | 6.15e-09 | 7.81e-08 | 4.83e-08 | 111 |
hsa051209 | Prostate | BPH | Epithelial cell signaling in Helicobacter pylori infection | 29/1718 | 70/8465 | 4.25e-05 | 2.98e-04 | 1.85e-04 | 29 |
hsa0414526 | Prostate | BPH | Phagosome | 50/1718 | 152/8465 | 1.62e-04 | 9.40e-04 | 5.82e-04 | 50 |
hsa0516513 | Prostate | BPH | Human papillomavirus infection | 111/1718 | 331/8465 | 6.15e-09 | 7.81e-08 | 4.83e-08 | 111 |
hsa0512016 | Prostate | BPH | Epithelial cell signaling in Helicobacter pylori infection | 29/1718 | 70/8465 | 4.25e-05 | 2.98e-04 | 1.85e-04 | 29 |
hsa04145112 | Prostate | BPH | Phagosome | 50/1718 | 152/8465 | 1.62e-04 | 9.40e-04 | 5.82e-04 | 50 |
hsa0019027 | Prostate | Tumor | Oxidative phosphorylation | 83/1791 | 134/8465 | 7.47e-25 | 4.12e-23 | 2.55e-23 | 83 |
hsa0516522 | Prostate | Tumor | Human papillomavirus infection | 110/1791 | 331/8465 | 1.31e-07 | 1.51e-06 | 9.36e-07 | 110 |
hsa0414527 | Prostate | Tumor | Phagosome | 52/1791 | 152/8465 | 1.19e-04 | 7.42e-04 | 4.60e-04 | 52 |
hsa0512023 | Prostate | Tumor | Epithelial cell signaling in Helicobacter pylori infection | 28/1791 | 70/8465 | 2.52e-04 | 1.43e-03 | 8.87e-04 | 28 |
hsa0019036 | Prostate | Tumor | Oxidative phosphorylation | 83/1791 | 134/8465 | 7.47e-25 | 4.12e-23 | 2.55e-23 | 83 |
hsa0516532 | Prostate | Tumor | Human papillomavirus infection | 110/1791 | 331/8465 | 1.31e-07 | 1.51e-06 | 9.36e-07 | 110 |
hsa0414535 | Prostate | Tumor | Phagosome | 52/1791 | 152/8465 | 1.19e-04 | 7.42e-04 | 4.60e-04 | 52 |
hsa0512033 | Prostate | Tumor | Epithelial cell signaling in Helicobacter pylori infection | 28/1791 | 70/8465 | 2.52e-04 | 1.43e-03 | 8.87e-04 | 28 |
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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 |
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 |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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