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Gene: ATP5H |
Gene summary for ATP5H |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ATP5H | Gene ID | 10476 |
| Gene name | ATP synthase peripheral stalk subunit d | |
| Gene Alias | APT5H | |
| Cytomap | 17q25.1 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | O75947 |
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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 |
| 10476 | ATP5H | GSM4909281 | Human | Breast | IDC | 6.58e-19 | -2.93e-01 | 0.21 |
| 10476 | ATP5H | GSM4909282 | Human | Breast | IDC | 1.81e-17 | -2.93e-01 | -0.0288 |
| 10476 | ATP5H | GSM4909285 | Human | Breast | IDC | 6.58e-19 | -2.93e-01 | 0.21 |
| 10476 | ATP5H | GSM4909286 | Human | Breast | IDC | 5.35e-20 | -2.93e-01 | 0.1081 |
| 10476 | ATP5H | GSM4909287 | Human | Breast | IDC | 5.13e-15 | -2.93e-01 | 0.2057 |
| 10476 | ATP5H | GSM4909288 | Human | Breast | IDC | 9.46e-03 | -2.93e-01 | 0.0988 |
| 10476 | ATP5H | GSM4909290 | Human | Breast | IDC | 1.80e-10 | -2.93e-01 | 0.2096 |
| 10476 | ATP5H | GSM4909291 | Human | Breast | IDC | 2.68e-08 | -2.93e-01 | 0.1753 |
| 10476 | ATP5H | GSM4909293 | Human | Breast | IDC | 3.47e-18 | -2.93e-01 | 0.1581 |
| 10476 | ATP5H | GSM4909294 | Human | Breast | IDC | 6.58e-19 | -2.93e-01 | 0.2022 |
| 10476 | ATP5H | GSM4909295 | Human | Breast | IDC | 2.63e-06 | -2.93e-01 | 0.0898 |
| 10476 | ATP5H | GSM4909296 | Human | Breast | IDC | 1.51e-18 | -2.93e-01 | 0.1524 |
| 10476 | ATP5H | GSM4909297 | Human | Breast | IDC | 5.35e-20 | -2.93e-01 | 0.1517 |
| 10476 | ATP5H | GSM4909298 | Human | Breast | IDC | 6.58e-19 | -2.93e-01 | 0.1551 |
| 10476 | ATP5H | GSM4909299 | Human | Breast | IDC | 1.51e-18 | -2.93e-01 | 0.035 |
| 10476 | ATP5H | GSM4909300 | Human | Breast | IDC | 1.90e-05 | -2.93e-01 | 0.0334 |
| 10476 | ATP5H | GSM4909301 | Human | Breast | IDC | 6.58e-19 | -2.93e-01 | 0.1577 |
| 10476 | ATP5H | GSM4909302 | Human | Breast | IDC | 8.70e-15 | -2.93e-01 | 0.1545 |
| 10476 | ATP5H | GSM4909303 | Human | Breast | IDC | 2.85e-03 | -2.93e-01 | 0.0438 |
| 10476 | ATP5H | GSM4909304 | Human | Breast | IDC | 3.47e-18 | -2.93e-01 | 0.1636 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0501218 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
| hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
| hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0019016 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0501016 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
| hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
| hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
| hsa0520818 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
| hsa0471418 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
| hsa0541518 | Breast | Precancer | Diabetic cardiomyopathy | 63/684 | 203/8465 | 5.63e-22 | 1.48e-20 | 1.14e-20 | 63 |
| hsa0501219 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
| hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
| hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0019017 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0501017 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
| hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
| hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
| hsa0520819 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
| hsa0471419 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
| hsa0541519 | Breast | Precancer | Diabetic cardiomyopathy | 63/684 | 203/8465 | 5.63e-22 | 1.48e-20 | 1.14e-20 | 63 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 |
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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 |
| ATP5H | SNV | Missense_Mutation | c.299N>A | p.Ser100Tyr | p.S100Y | O75947 | protein_coding | deleterious(0.03) | possibly_damaging(0.59) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| ATP5H | SNV | Missense_Mutation | novel | c.275N>T | p.Ala92Val | p.A92V | O75947 | protein_coding | deleterious(0.02) | benign(0.015) | TCGA-AG-A014-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| ATP5H | SNV | Missense_Mutation | rs149411955 | c.11N>A | p.Arg4Gln | p.R4Q | O75947 | protein_coding | tolerated(0.12) | benign(0.029) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| ATP5H | SNV | Missense_Mutation | novel | c.103N>G | p.Asn35Asp | p.N35D | O75947 | protein_coding | deleterious(0.04) | benign(0.11) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ATP5H | SNV | Missense_Mutation | c.157G>A | p.Asp53Asn | p.D53N | O75947 | protein_coding | tolerated(0.24) | benign(0.073) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| ATP5H | SNV | Missense_Mutation | novel | c.35A>T | p.Asp12Val | p.D12V | O75947 | protein_coding | deleterious(0) | probably_damaging(0.957) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
| ATP5H | SNV | Missense_Mutation | c.157N>A | p.Asp53Asn | p.D53N | O75947 | protein_coding | tolerated(0.24) | benign(0.073) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| ATP5H | SNV | Missense_Mutation | novel | c.461N>T | p.Pro154Leu | p.P154L | O75947 | protein_coding | deleterious(0.01) | probably_damaging(0.956) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
| ATP5H | SNV | Missense_Mutation | novel | c.170A>G | p.Tyr57Cys | p.Y57C | O75947 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-77-8148-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
| ATP5H | deletion | Frame_Shift_Del | novel | c.28delA | p.Thr10ProfsTer5 | p.T10Pfs*5 | O75947 | protein_coding | TCGA-F7-A624-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 |
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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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