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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 |
hsa0019018 | Cervix | CC | Oxidative phosphorylation | 64/1267 | 134/8465 | 1.25e-19 | 8.07e-18 | 4.77e-18 | 64 |
hsa0414520 | Cervix | CC | Phagosome | 47/1267 | 152/8465 | 3.95e-07 | 4.26e-06 | 2.52e-06 | 47 |
hsa051207 | Cervix | CC | Epithelial cell signaling in Helicobacter pylori infection | 24/1267 | 70/8465 | 4.35e-05 | 3.09e-04 | 1.83e-04 | 24 |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa0511016 | Cervix | CC | Vibrio cholerae infection | 18/1267 | 50/8465 | 1.91e-04 | 1.11e-03 | 6.55e-04 | 18 |
hsa0532314 | Cervix | CC | Rheumatoid arthritis | 27/1267 | 93/8465 | 3.64e-04 | 1.82e-03 | 1.07e-03 | 27 |
hsa05152 | Cervix | CC | Tuberculosis | 42/1267 | 180/8465 | 1.78e-03 | 7.21e-03 | 4.26e-03 | 42 |
hsa0019019 | Cervix | CC | Oxidative phosphorylation | 64/1267 | 134/8465 | 1.25e-19 | 8.07e-18 | 4.77e-18 | 64 |
hsa04145110 | Cervix | CC | Phagosome | 47/1267 | 152/8465 | 3.95e-07 | 4.26e-06 | 2.52e-06 | 47 |
hsa0512014 | Cervix | CC | Epithelial cell signaling in Helicobacter pylori infection | 24/1267 | 70/8465 | 4.35e-05 | 3.09e-04 | 1.83e-04 | 24 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa0511017 | Cervix | CC | Vibrio cholerae infection | 18/1267 | 50/8465 | 1.91e-04 | 1.11e-03 | 6.55e-04 | 18 |
hsa0532315 | Cervix | CC | Rheumatoid arthritis | 27/1267 | 93/8465 | 3.64e-04 | 1.82e-03 | 1.07e-03 | 27 |
hsa051521 | Cervix | CC | Tuberculosis | 42/1267 | 180/8465 | 1.78e-03 | 7.21e-03 | 4.26e-03 | 42 |
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 |
hsa041505 | Esophagus | ESCC | mTOR signaling pathway | 98/4205 | 156/8465 | 5.81e-04 | 1.95e-03 | 9.97e-04 | 98 |
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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 | novel | c.957G>T | p.Glu319Asp | p.E319D | Q9UI12 | protein_coding | tolerated(0.38) | benign(0.085) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ATP6V1H | SNV | Missense_Mutation | novel | c.333C>A | p.Phe111Leu | p.F111L | Q9UI12 | protein_coding | deleterious(0.02) | probably_damaging(0.986) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP6V1H | SNV | Missense_Mutation | novel | c.373N>C | p.Tyr125His | p.Y125H | Q9UI12 | protein_coding | tolerated(0.54) | benign(0.036) | TCGA-EY-A1H0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | SD |
ATP6V1H | SNV | Missense_Mutation | novel | c.597N>T | p.Gln199His | p.Q199H | Q9UI12 | protein_coding | tolerated(0.09) | benign(0.398) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP6V1H | SNV | Missense_Mutation | rs200328593 | c.785G>A | p.Arg262His | p.R262H | Q9UI12 | protein_coding | tolerated(0.13) | benign(0.014) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ATP6V1H | SNV | Missense_Mutation | novel | c.794N>C | p.Ile265Thr | p.I265T | Q9UI12 | protein_coding | deleterious(0.01) | benign(0.297) | TCGA-FI-A2D6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP6V1H | SNV | Missense_Mutation | novel | c.539N>C | p.Ser180Thr | p.S180T | Q9UI12 | protein_coding | tolerated(0.9) | benign(0) | TCGA-FI-A3PX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ATP6V1H | insertion | Frame_Shift_Ins | novel | c.736_737insT | p.Ser246PhefsTer13 | p.S246Ffs*13 | Q9UI12 | protein_coding | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
ATP6V1H | insertion | Frame_Shift_Ins | novel | c.736_737insT | p.Ser246PhefsTer13 | p.S246Ffs*13 | Q9UI12 | protein_coding | TCGA-D1-A17M-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
ATP6V1H | SNV | Missense_Mutation | novel | c.1190N>G | p.Leu397Arg | p.L397R | Q9UI12 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-DD-AACF-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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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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