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Gene: POLQ |
Gene summary for POLQ |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | POLQ | Gene ID | 10721 |
| Gene name | DNA polymerase theta | |
| Gene Alias | PRO0327 | |
| Cytomap | 3q13.33 | |
| Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | O75417 |
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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 |
| 10721 | POLQ | CCI_1 | Human | Cervix | CC | 6.82e-09 | 4.91e-01 | 0.528 |
| 10721 | POLQ | CCI_2 | Human | Cervix | CC | 6.29e-17 | 1.22e+00 | 0.5249 |
| 10721 | POLQ | CCI_3 | Human | Cervix | CC | 2.28e-34 | 1.37e+00 | 0.516 |
| 10721 | POLQ | T3 | Human | Cervix | CC | 2.39e-02 | 9.19e-02 | 0.1389 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix |
| ∗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 |
| GO:20010209 | Cervix | CC | regulation of response to DNA damage stimulus | 46/2311 | 219/18723 | 1.92e-04 | 2.23e-03 | 46 |
| GO:00510528 | Cervix | CC | regulation of DNA metabolic process | 65/2311 | 359/18723 | 9.25e-04 | 7.84e-03 | 65 |
| GO:00062602 | Cervix | CC | DNA replication | 48/2311 | 260/18723 | 2.70e-03 | 1.85e-02 | 48 |
| GO:00323923 | Cervix | CC | DNA geometric change | 21/2311 | 90/18723 | 2.71e-03 | 1.85e-02 | 21 |
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| 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 |
| POLQ | SNV | Missense_Mutation | novel | c.2068N>A | p.Glu690Lys | p.E690K | O75417 | protein_coding | deleterious(0.03) | benign(0.118) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| POLQ | SNV | Missense_Mutation | c.4469N>C | p.Leu1490Pro | p.L1490P | O75417 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | SD | ||
| POLQ | SNV | Missense_Mutation | c.7334N>T | p.Gly2445Val | p.G2445V | O75417 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B6-A0RU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| POLQ | SNV | Missense_Mutation | c.4763C>T | p.Pro1588Leu | p.P1588L | O75417 | protein_coding | tolerated(0.7) | benign(0) | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | ||
| POLQ | SNV | Missense_Mutation | c.1343N>A | p.Ser448Tyr | p.S448Y | O75417 | protein_coding | deleterious(0) | possibly_damaging(0.89) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
| POLQ | SNV | Missense_Mutation | c.5923C>T | p.Leu1975Phe | p.L1975F | O75417 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-BH-A1EV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
| POLQ | SNV | Missense_Mutation | c.4979C>T | p.Ser1660Leu | p.S1660L | O75417 | protein_coding | tolerated(0.7) | benign(0) | TCGA-C8-A26X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
| POLQ | SNV | Missense_Mutation | c.987N>T | p.Leu329Phe | p.L329F | O75417 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| POLQ | SNV | Missense_Mutation | c.1988C>G | p.Thr663Ser | p.T663S | O75417 | protein_coding | tolerated(0.07) | benign(0.005) | TCGA-D8-A1XL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide+tamoxifen | SD | |
| POLQ | SNV | Missense_Mutation | novel | c.3110G>A | p.Arg1037Lys | p.R1037K | O75417 | protein_coding | tolerated_low_confidence(0.99) | benign(0) | TCGA-E2-A1B1-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Other, specify in notesbiphosphonate | zoledronic | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 |
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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 |
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