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Gene: PTOV1 |
Gene summary for PTOV1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PTOV1 | Gene ID | 53635 |
| Gene name | PTOV1 extended AT-hook containing adaptor protein | |
| Gene Alias | ACID2 | |
| Cytomap | 19q13.33 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q86YD1 |
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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 |
| 53635 | PTOV1 | P126T-E | Human | Esophagus | ESCC | 1.29e-18 | 1.61e+00 | 0.1125 |
| 53635 | PTOV1 | P127T-E | Human | Esophagus | ESCC | 1.69e-35 | 7.25e-01 | 0.0826 |
| 53635 | PTOV1 | P128T-E | Human | Esophagus | ESCC | 1.02e-63 | 2.51e+00 | 0.1241 |
| 53635 | PTOV1 | P130T-E | Human | Esophagus | ESCC | 2.53e-94 | 2.12e+00 | 0.1676 |
| 53635 | PTOV1 | HCC1_Meng | Human | Liver | HCC | 4.34e-78 | 1.15e-01 | 0.0246 |
| 53635 | PTOV1 | HCC2_Meng | Human | Liver | HCC | 7.91e-32 | 4.90e-02 | 0.0107 |
| 53635 | PTOV1 | cirrhotic2 | Human | Liver | Cirrhotic | 3.25e-19 | 2.24e-01 | 0.0201 |
| 53635 | PTOV1 | cirrhotic3 | Human | Liver | Cirrhotic | 4.55e-16 | 3.03e-01 | 0.0215 |
| 53635 | PTOV1 | HCC2 | Human | Liver | HCC | 2.73e-10 | 2.73e+00 | 0.5341 |
| 53635 | PTOV1 | Pt13.b | Human | Liver | HCC | 2.45e-15 | 1.75e-01 | 0.0251 |
| 53635 | PTOV1 | Pt14.a | Human | Liver | HCC | 4.42e-06 | 4.26e-01 | 0.0169 |
| 53635 | PTOV1 | Pt14.b | Human | Liver | HCC | 1.76e-03 | 1.85e-01 | 0.018 |
| 53635 | PTOV1 | S014 | Human | Liver | HCC | 1.18e-35 | 1.51e+00 | 0.2254 |
| 53635 | PTOV1 | S015 | Human | Liver | HCC | 1.60e-31 | 1.92e+00 | 0.2375 |
| 53635 | PTOV1 | S016 | Human | Liver | HCC | 2.42e-42 | 1.52e+00 | 0.2243 |
| 53635 | PTOV1 | S027 | Human | Liver | HCC | 1.84e-16 | 1.52e+00 | 0.2446 |
| 53635 | PTOV1 | S028 | Human | Liver | HCC | 1.38e-27 | 1.66e+00 | 0.2503 |
| 53635 | PTOV1 | S029 | Human | Liver | HCC | 2.56e-30 | 1.69e+00 | 0.2581 |
| 53635 | PTOV1 | C04 | Human | Oral cavity | OSCC | 6.87e-24 | 1.32e+00 | 0.2633 |
| 53635 | PTOV1 | C21 | Human | Oral cavity | OSCC | 2.04e-44 | 1.37e+00 | 0.2678 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| 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 | ||
| 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 |
| Page: 1 |
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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 |
| PTOV1 | insertion | Frame_Shift_Ins | novel | c.850_851insTCCCTCCG | p.His284LeufsTer7 | p.H284Lfs*7 | Q86YD1 | protein_coding | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | ||
| PTOV1 | SNV | Missense_Mutation | rs771781769 | c.1208N>A | p.Arg403Gln | p.R403Q | Q86YD1 | protein_coding | tolerated_low_confidence(0.23) | benign(0.022) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| PTOV1 | SNV | Missense_Mutation | rs377067186 | c.1174N>T | p.Arg392Cys | p.R392C | Q86YD1 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AA-3818-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| PTOV1 | SNV | Missense_Mutation | novel | c.851A>G | p.His284Arg | p.H284R | Q86YD1 | protein_coding | deleterious(0.04) | benign(0.403) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| PTOV1 | SNV | Missense_Mutation | c.728N>A | p.Gly243Asp | p.G243D | Q86YD1 | protein_coding | deleterious(0.01) | benign(0.286) | TCGA-CK-4952-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| PTOV1 | SNV | Missense_Mutation | rs764053837 | c.350N>A | p.Arg117Gln | p.R117Q | Q86YD1 | protein_coding | tolerated(0.07) | benign(0.062) | TCGA-CM-4752-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| PTOV1 | SNV | Missense_Mutation | c.1021N>T | p.Arg341Trp | p.R341W | Q86YD1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CM-6167-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| PTOV1 | SNV | Missense_Mutation | rs770938530 | c.313C>T | p.Arg105Cys | p.R105C | Q86YD1 | protein_coding | tolerated(0.06) | probably_damaging(0.995) | TCGA-CM-6171-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PTOV1 | SNV | Missense_Mutation | rs764330906 | c.1085N>A | p.Arg362His | p.R362H | Q86YD1 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| PTOV1 | deletion | Frame_Shift_Del | c.239delG | p.Gly80ValfsTer4 | p.G80Vfs*4 | Q86YD1 | protein_coding | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 |
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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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