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Gene: POLG2 |
Gene summary for POLG2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | POLG2 | Gene ID | 11232 |
| Gene name | DNA polymerase gamma 2, accessory subunit | |
| Gene Alias | HP55 | |
| Cytomap | 17q23.3 | |
| Gene Type | protein-coding | GO ID | GO:0000002 | UniProtAcc | E5KS15 |
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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 |
| 11232 | POLG2 | AEH-subject4 | Human | Endometrium | AEH | 9.00e-04 | 3.22e-01 | -0.2657 |
| 11232 | POLG2 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 3.57e-05 | -8.06e-02 | -0.1883 |
| 11232 | POLG2 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.46e-04 | -4.81e-02 | -0.1917 |
| 11232 | POLG2 | LZE4T | Human | Esophagus | ESCC | 6.50e-05 | 1.19e-01 | 0.0811 |
| 11232 | POLG2 | LZE7T | Human | Esophagus | ESCC | 3.99e-04 | 1.78e-01 | 0.0667 |
| 11232 | POLG2 | LZE24T | Human | Esophagus | ESCC | 2.08e-08 | 1.52e-01 | 0.0596 |
| 11232 | POLG2 | P1T-E | Human | Esophagus | ESCC | 2.75e-22 | 1.09e+00 | 0.0875 |
| 11232 | POLG2 | P2T-E | Human | Esophagus | ESCC | 2.70e-19 | 2.68e-01 | 0.1177 |
| 11232 | POLG2 | P4T-E | Human | Esophagus | ESCC | 1.61e-10 | 1.10e-01 | 0.1323 |
| 11232 | POLG2 | P8T-E | Human | Esophagus | ESCC | 3.06e-12 | 1.93e-01 | 0.0889 |
| 11232 | POLG2 | P9T-E | Human | Esophagus | ESCC | 7.20e-06 | 1.02e-01 | 0.1131 |
| 11232 | POLG2 | P10T-E | Human | Esophagus | ESCC | 8.67e-21 | 2.35e-01 | 0.116 |
| 11232 | POLG2 | P11T-E | Human | Esophagus | ESCC | 1.15e-14 | 3.61e-01 | 0.1426 |
| 11232 | POLG2 | P12T-E | Human | Esophagus | ESCC | 5.02e-23 | 2.57e-01 | 0.1122 |
| 11232 | POLG2 | P15T-E | Human | Esophagus | ESCC | 1.07e-15 | 3.47e-01 | 0.1149 |
| 11232 | POLG2 | P16T-E | Human | Esophagus | ESCC | 1.56e-19 | 2.49e-01 | 0.1153 |
| 11232 | POLG2 | P20T-E | Human | Esophagus | ESCC | 5.42e-10 | 1.91e-01 | 0.1124 |
| 11232 | POLG2 | P21T-E | Human | Esophagus | ESCC | 1.81e-11 | 1.17e-01 | 0.1617 |
| 11232 | POLG2 | P22T-E | Human | Esophagus | ESCC | 9.03e-10 | 1.24e-01 | 0.1236 |
| 11232 | POLG2 | P23T-E | Human | Esophagus | ESCC | 1.43e-20 | 4.49e-01 | 0.108 |
| Page: 1 2 3 4 |
| 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 | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:005105412 | Endometrium | EEC | positive regulation of DNA metabolic process | 38/2168 | 201/18723 | 1.55e-03 | 1.24e-02 | 38 |
| GO:000627511 | Endometrium | EEC | regulation of DNA replication | 22/2168 | 107/18723 | 5.09e-03 | 3.20e-02 | 22 |
| GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
| GO:0045333110 | Esophagus | ESCC | cellular respiration | 173/8552 | 230/18723 | 4.53e-20 | 5.99e-18 | 173 |
| GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
| GO:0022900110 | Esophagus | ESCC | electron transport chain | 133/8552 | 175/18723 | 2.18e-16 | 1.67e-14 | 133 |
| GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
| GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
| GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
| GO:0022904110 | Esophagus | ESCC | respiratory electron transport chain | 89/8552 | 114/18723 | 1.36e-12 | 5.80e-11 | 89 |
| GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
| GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
| GO:200057319 | Esophagus | ESCC | positive regulation of DNA biosynthetic process | 56/8552 | 66/18723 | 4.51e-11 | 1.45e-09 | 56 |
| GO:2000278110 | Esophagus | ESCC | regulation of DNA biosynthetic process | 81/8552 | 106/18723 | 9.81e-11 | 2.96e-09 | 81 |
| GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
| GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
| GO:00705848 | Esophagus | ESCC | mitochondrion morphogenesis | 18/8552 | 21/18723 | 1.81e-04 | 1.16e-03 | 18 |
| GO:00000021 | Esophagus | ESCC | mitochondrial genome maintenance | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
| GO:0090329 | Esophagus | ESCC | regulation of DNA-dependent DNA replication | 30/8552 | 46/18723 | 5.91e-03 | 2.18e-02 | 30 |
| GO:00017016 | Lung | IAC | in utero embryonic development | 68/2061 | 367/18723 | 1.12e-05 | 3.45e-04 | 68 |
| Page: 1 2 3 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa034104 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
| hsa0341011 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
| 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 |
| POLG2 | SNV | Missense_Mutation | c.757N>A | p.Asp253Asn | p.D253N | Q9UHN1 | protein_coding | tolerated(0.1) | probably_damaging(0.997) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| POLG2 | SNV | Missense_Mutation | novel | c.915N>A | p.Asn305Lys | p.N305K | Q9UHN1 | protein_coding | deleterious(0.01) | benign(0.164) | TCGA-AC-A3TM-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
| POLG2 | SNV | Missense_Mutation | c.1301A>G | p.Glu434Gly | p.E434G | Q9UHN1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| POLG2 | deletion | Frame_Shift_Del | novel | c.756delN | p.Asp253IlefsTer16 | p.D253Ifs*16 | Q9UHN1 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| POLG2 | deletion | Frame_Shift_Del | novel | c.42delN | p.Cys14Ter | p.C14* | Q9UHN1 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| POLG2 | SNV | Missense_Mutation | c.1400N>T | p.His467Leu | p.H467L | Q9UHN1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EA-A3QD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR | |
| POLG2 | SNV | Missense_Mutation | novel | c.1213G>A | p.Glu405Lys | p.E405K | Q9UHN1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| POLG2 | SNV | Missense_Mutation | novel | c.899T>C | p.Ile300Thr | p.I300T | Q9UHN1 | protein_coding | deleterious(0) | possibly_damaging(0.878) | TCGA-VS-A94W-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| POLG2 | SNV | Missense_Mutation | novel | c.158N>G | p.Asn53Ser | p.N53S | Q9UHN1 | protein_coding | tolerated_low_confidence(0.08) | benign(0) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| POLG2 | SNV | Missense_Mutation | c.533C>A | p.Ser178Tyr | p.S178Y | Q9UHN1 | protein_coding | deleterious(0) | possibly_damaging(0.743) | TCGA-AA-3489-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| 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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