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Gene: POLE2 |
Gene summary for POLE2 |
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Gene information | Species | Human | Gene symbol | POLE2 | Gene ID | 5427 |
Gene name | DNA polymerase epsilon 2, accessory subunit | |
Gene Alias | DPE2 | |
Cytomap | 14q21.3 | |
Gene Type | protein-coding | GO ID | GO:0000731 | UniProtAcc | P56282 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5427 | POLE2 | P2T-E | Human | Esophagus | ESCC | 1.96e-05 | 1.22e-01 | 0.1177 |
5427 | POLE2 | P4T-E | Human | Esophagus | ESCC | 3.03e-11 | 2.80e-01 | 0.1323 |
5427 | POLE2 | P5T-E | Human | Esophagus | ESCC | 1.77e-22 | 3.90e-01 | 0.1327 |
5427 | POLE2 | P8T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.05e-01 | 0.0889 |
5427 | POLE2 | P10T-E | Human | Esophagus | ESCC | 7.90e-03 | 1.07e-01 | 0.116 |
5427 | POLE2 | P15T-E | Human | Esophagus | ESCC | 3.58e-03 | 1.64e-01 | 0.1149 |
5427 | POLE2 | P21T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.18e-01 | 0.1617 |
5427 | POLE2 | P23T-E | Human | Esophagus | ESCC | 3.50e-07 | 1.13e-01 | 0.108 |
5427 | POLE2 | P24T-E | Human | Esophagus | ESCC | 4.44e-08 | 2.11e-01 | 0.1287 |
5427 | POLE2 | P26T-E | Human | Esophagus | ESCC | 1.96e-05 | 1.40e-01 | 0.1276 |
5427 | POLE2 | P27T-E | Human | Esophagus | ESCC | 9.53e-09 | 1.69e-01 | 0.1055 |
5427 | POLE2 | P31T-E | Human | Esophagus | ESCC | 3.97e-04 | 1.39e-01 | 0.1251 |
5427 | POLE2 | P37T-E | Human | Esophagus | ESCC | 8.36e-06 | 1.74e-01 | 0.1371 |
5427 | POLE2 | P49T-E | Human | Esophagus | ESCC | 1.11e-07 | 5.40e-01 | 0.1768 |
5427 | POLE2 | P52T-E | Human | Esophagus | ESCC | 8.56e-12 | 2.55e-01 | 0.1555 |
5427 | POLE2 | P54T-E | Human | Esophagus | ESCC | 5.66e-07 | 1.92e-01 | 0.0975 |
5427 | POLE2 | P61T-E | Human | Esophagus | ESCC | 5.29e-04 | 9.22e-02 | 0.099 |
5427 | POLE2 | P62T-E | Human | Esophagus | ESCC | 9.93e-03 | 1.14e-01 | 0.1302 |
5427 | POLE2 | P65T-E | Human | Esophagus | ESCC | 3.35e-03 | 1.20e-01 | 0.0978 |
5427 | POLE2 | P74T-E | Human | Esophagus | ESCC | 4.56e-05 | 2.42e-01 | 0.1479 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:00063012 | Esophagus | ESCC | postreplication repair | 26/8552 | 31/18723 | 1.32e-05 | 1.21e-04 | 26 |
GO:0019985 | Esophagus | ESCC | translesion synthesis | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0342022 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa034104 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa030304 | Esophagus | ESCC | DNA replication | 32/4205 | 36/8465 | 7.71e-07 | 5.06e-06 | 2.59e-06 | 32 |
hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa0341011 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa0303011 | Esophagus | ESCC | DNA replication | 32/4205 | 36/8465 | 7.71e-07 | 5.06e-06 | 2.59e-06 | 32 |
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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 |
POLE2 | SNV | Missense_Mutation | novel | c.859N>C | p.Phe287Leu | p.F287L | P56282 | protein_coding | tolerated(0.34) | benign(0.01) | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
POLE2 | SNV | Missense_Mutation | novel | c.230N>G | p.Ser77Cys | p.S77C | P56282 | protein_coding | deleterious(0.03) | benign(0.198) | TCGA-85-8276-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
POLE2 | insertion | Nonsense_Mutation | novel | c.1324_1325insCACTCTAATCTTGATAAA | p.Val442delinsAlaLeuTerSerTerTerIle | p.V442delinsAL*S**I | P56282 | protein_coding | TCGA-55-A4DG-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
POLE2 | SNV | Missense_Mutation | rs758265986 | c.221N>A | p.Cys74Tyr | p.C74Y | P56282 | protein_coding | deleterious(0.05) | probably_damaging(0.999) | TCGA-HF-7132-01 | Stomach | stomach adenocarcinoma | Male | Unknown | I/II | Chemotherapy | fluorouracil | SD |
POLE2 | SNV | Missense_Mutation | rs773570956 | c.398N>A | p.Arg133Gln | p.R133Q | P56282 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-HU-A4GN-01 | Stomach | stomach adenocarcinoma | Male | <65 | I/II | Chemotherapy | mitomycin | PD |
POLE2 | deletion | In_Frame_Del | novel | c.660_665delNNNNNN | p.Glu220_Cys222delinsAsp | p.E220_C222delinsD | P56282 | protein_coding | TCGA-EL-A3TB-01 | Thyroid | thyroid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
POLE2 | insertion | Frame_Shift_Ins | rs750109334 | c.1324_1325insATAAA | p.Val442AspfsTer3 | p.V442Dfs*3 | P56282 | protein_coding | TCGA-EL-A3ZG-01 | Thyroid | thyroid carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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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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