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Gene: ATP6V1H |
Gene summary for ATP6V1H |
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Gene information | Species | Human | Gene symbol | ATP6V1H | Gene ID | 51606 |
Gene name | ATPase H+ transporting V1 subunit H | |
Gene Alias | CGI-11 | |
Cytomap | 8q11.23 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | A0A024R7U9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
51606 | ATP6V1H | CCI_1 | Human | Cervix | CC | 4.13e-04 | 4.15e-01 | 0.528 |
51606 | ATP6V1H | CCI_2 | Human | Cervix | CC | 3.29e-10 | 1.04e+00 | 0.5249 |
51606 | ATP6V1H | CCI_3 | Human | Cervix | CC | 3.33e-05 | 5.46e-01 | 0.516 |
51606 | ATP6V1H | LZE3D | Human | Esophagus | HGIN | 1.85e-05 | 8.96e-01 | 0.0668 |
51606 | ATP6V1H | LZE4T | Human | Esophagus | ESCC | 3.63e-17 | 4.65e-01 | 0.0811 |
51606 | ATP6V1H | LZE7T | Human | Esophagus | ESCC | 1.19e-05 | 3.26e-01 | 0.0667 |
51606 | ATP6V1H | LZE8T | Human | Esophagus | ESCC | 3.28e-10 | 2.43e-01 | 0.067 |
51606 | ATP6V1H | LZE20T | Human | Esophagus | ESCC | 1.10e-13 | 4.47e-01 | 0.0662 |
51606 | ATP6V1H | LZE22T | Human | Esophagus | ESCC | 1.28e-03 | 2.04e-01 | 0.068 |
51606 | ATP6V1H | LZE24T | Human | Esophagus | ESCC | 5.75e-21 | 4.41e-01 | 0.0596 |
51606 | ATP6V1H | LZE21T | Human | Esophagus | ESCC | 3.26e-05 | 2.40e-01 | 0.0655 |
51606 | ATP6V1H | LZE6T | Human | Esophagus | ESCC | 3.15e-05 | 1.92e-01 | 0.0845 |
51606 | ATP6V1H | P1T-E | Human | Esophagus | ESCC | 3.70e-12 | 5.24e-01 | 0.0875 |
51606 | ATP6V1H | P2T-E | Human | Esophagus | ESCC | 8.79e-31 | 6.63e-01 | 0.1177 |
51606 | ATP6V1H | P4T-E | Human | Esophagus | ESCC | 1.36e-27 | 5.44e-01 | 0.1323 |
51606 | ATP6V1H | P5T-E | Human | Esophagus | ESCC | 1.67e-14 | 1.08e-01 | 0.1327 |
51606 | ATP6V1H | P8T-E | Human | Esophagus | ESCC | 4.06e-30 | 3.81e-01 | 0.0889 |
51606 | ATP6V1H | P9T-E | Human | Esophagus | ESCC | 6.42e-13 | 2.16e-01 | 0.1131 |
51606 | ATP6V1H | P10T-E | Human | Esophagus | ESCC | 6.04e-28 | 4.91e-01 | 0.116 |
51606 | ATP6V1H | P11T-E | Human | Esophagus | ESCC | 4.17e-15 | 6.93e-01 | 0.1426 |
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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:19026009 | Cervix | CC | proton transmembrane transport | 39/2311 | 157/18723 | 1.23e-05 | 2.57e-04 | 39 |
GO:00162367 | Cervix | CC | macroautophagy | 58/2311 | 291/18723 | 1.40e-04 | 1.70e-03 | 58 |
GO:00105067 | Cervix | CC | regulation of autophagy | 61/2311 | 317/18723 | 2.61e-04 | 2.87e-03 | 61 |
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: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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa051659 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
hsa041425 | Oral cavity | OSCC | Lysosome | 87/3704 | 132/8465 | 1.97e-07 | 1.35e-06 | 6.86e-07 | 87 |
hsa0019028 | Oral cavity | OSCC | Oxidative phosphorylation | 88/3704 | 134/8465 | 2.15e-07 | 1.44e-06 | 7.32e-07 | 88 |
hsa0512010 | Oral cavity | OSCC | Epithelial cell signaling in Helicobacter pylori infection | 49/3704 | 70/8465 | 7.57e-06 | 3.59e-05 | 1.83e-05 | 49 |
hsa051526 | Oral cavity | OSCC | Tuberculosis | 105/3704 | 180/8465 | 5.00e-05 | 2.04e-04 | 1.04e-04 | 105 |
hsa0414528 | Oral cavity | OSCC | Phagosome | 88/3704 | 152/8465 | 2.83e-04 | 9.13e-04 | 4.65e-04 | 88 |
hsa041504 | Oral cavity | OSCC | mTOR signaling pathway | 90/3704 | 156/8465 | 2.87e-04 | 9.15e-04 | 4.66e-04 | 90 |
hsa0532318 | Oral cavity | OSCC | Rheumatoid arthritis | 56/3704 | 93/8465 | 9.72e-04 | 2.76e-03 | 1.40e-03 | 56 |
hsa0511026 | Oral cavity | OSCC | Vibrio cholerae infection | 32/3704 | 50/8465 | 3.05e-03 | 7.74e-03 | 3.94e-03 | 32 |
hsa0516514 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
hsa0414212 | Oral cavity | OSCC | Lysosome | 87/3704 | 132/8465 | 1.97e-07 | 1.35e-06 | 6.86e-07 | 87 |
hsa00190112 | Oral cavity | OSCC | Oxidative phosphorylation | 88/3704 | 134/8465 | 2.15e-07 | 1.44e-06 | 7.32e-07 | 88 |
hsa0512017 | Oral cavity | OSCC | Epithelial cell signaling in Helicobacter pylori infection | 49/3704 | 70/8465 | 7.57e-06 | 3.59e-05 | 1.83e-05 | 49 |
hsa0515211 | Oral cavity | OSCC | Tuberculosis | 105/3704 | 180/8465 | 5.00e-05 | 2.04e-04 | 1.04e-04 | 105 |
hsa04145113 | Oral cavity | OSCC | Phagosome | 88/3704 | 152/8465 | 2.83e-04 | 9.13e-04 | 4.65e-04 | 88 |
hsa0415012 | Oral cavity | OSCC | mTOR signaling pathway | 90/3704 | 156/8465 | 2.87e-04 | 9.15e-04 | 4.66e-04 | 90 |
hsa0532319 | Oral cavity | OSCC | Rheumatoid arthritis | 56/3704 | 93/8465 | 9.72e-04 | 2.76e-03 | 1.40e-03 | 56 |
hsa05110111 | Oral cavity | OSCC | Vibrio cholerae infection | 32/3704 | 50/8465 | 3.05e-03 | 7.74e-03 | 3.94e-03 | 32 |
hsa0019029 | Oral cavity | LP | Oxidative phosphorylation | 81/2418 | 134/8465 | 9.58e-15 | 2.45e-13 | 1.58e-13 | 81 |
hsa0414221 | Oral cavity | LP | Lysosome | 67/2418 | 132/8465 | 5.13e-08 | 7.77e-07 | 5.01e-07 | 67 |
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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 |
ATP6V1H | SNV | Missense_Mutation | rs371234673 | c.868C>T | p.Arg290Cys | p.R290C | Q9UI12 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-C8-A135-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
ATP6V1H | deletion | Frame_Shift_Del | novel | c.1088_1095delGGTTGGAA | p.Arg363MetfsTer8 | p.R363Mfs*8 | Q9UI12 | protein_coding | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR | ||
ATP6V1H | SNV | Missense_Mutation | rs770965453 | c.1277G>A | p.Arg426Gln | p.R426Q | Q9UI12 | protein_coding | tolerated(0.71) | benign(0.069) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
ATP6V1H | SNV | Missense_Mutation | c.935N>A | p.Cys312Tyr | p.C312Y | Q9UI12 | protein_coding | tolerated(0.08) | possibly_damaging(0.823) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ATP6V1H | SNV | Missense_Mutation | rs753497464 | c.997N>A | p.Glu333Lys | p.E333K | Q9UI12 | protein_coding | deleterious(0.03) | benign(0.364) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1H | SNV | Missense_Mutation | novel | c.143N>G | p.Glu48Gly | p.E48G | Q9UI12 | protein_coding | deleterious(0.03) | benign(0.326) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
ATP6V1H | SNV | Missense_Mutation | c.928N>G | p.Ile310Val | p.I310V | Q9UI12 | protein_coding | tolerated(1) | benign(0.169) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ATP6V1H | SNV | Missense_Mutation | rs562675599 | c.320N>A | p.Arg107His | p.R107H | Q9UI12 | protein_coding | deleterious(0.01) | possibly_damaging(0.828) | TCGA-EI-6514-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | 5-fu | SD |
ATP6V1H | SNV | Missense_Mutation | rs770394341 | c.584C>T | p.Ser195Leu | p.S195L | Q9UI12 | protein_coding | deleterious(0) | benign(0.422) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
ATP6V1H | SNV | Missense_Mutation | c.643N>T | p.Arg215Cys | p.R215C | Q9UI12 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0G9-01 | 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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