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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 | P75T-E | Human | Esophagus | ESCC | 9.56e-08 | 1.95e-01 | 0.1125 |
5427 | POLE2 | P76T-E | Human | Esophagus | ESCC | 3.50e-02 | 9.53e-02 | 0.1207 |
5427 | POLE2 | P79T-E | Human | Esophagus | ESCC | 4.41e-07 | 1.90e-01 | 0.1154 |
5427 | POLE2 | P80T-E | Human | Esophagus | ESCC | 1.55e-04 | 1.48e-01 | 0.155 |
5427 | POLE2 | P83T-E | Human | Esophagus | ESCC | 6.53e-11 | 3.79e-01 | 0.1738 |
5427 | POLE2 | P91T-E | Human | Esophagus | ESCC | 3.27e-08 | 6.79e-01 | 0.1828 |
5427 | POLE2 | P107T-E | Human | Esophagus | ESCC | 1.75e-15 | 3.74e-01 | 0.171 |
5427 | POLE2 | P128T-E | Human | Esophagus | ESCC | 2.07e-17 | 4.91e-01 | 0.1241 |
5427 | POLE2 | P130T-E | Human | Esophagus | ESCC | 1.76e-12 | 2.48e-01 | 0.1676 |
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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 | rs767820176 | c.914N>A | p.Arg305His | p.R305H | P56282 | protein_coding | tolerated(0.6) | benign(0.006) | TCGA-A8-A08X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD |
POLE2 | SNV | Missense_Mutation | rs779259575 | c.503T>C | p.Ile168Thr | p.I168T | P56282 | protein_coding | deleterious(0) | benign(0.193) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POLE2 | insertion | Frame_Shift_Ins | novel | c.315_316insA | p.Phe106IlefsTer21 | p.F106Ifs*21 | P56282 | protein_coding | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | ||
POLE2 | SNV | Missense_Mutation | novel | c.1234A>C | p.Ile412Leu | p.I412L | P56282 | protein_coding | deleterious(0.04) | benign(0.011) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
POLE2 | SNV | Missense_Mutation | c.635A>G | p.Gln212Arg | p.Q212R | P56282 | protein_coding | tolerated(0.53) | benign(0.035) | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
POLE2 | SNV | Missense_Mutation | c.1268N>C | p.Met423Thr | p.M423T | P56282 | protein_coding | deleterious(0) | benign(0.292) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR | |
POLE2 | SNV | Missense_Mutation | c.47N>C | p.Leu16Ser | p.L16S | P56282 | protein_coding | deleterious(0) | possibly_damaging(0.857) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
POLE2 | SNV | Missense_Mutation | novel | c.1138C>T | p.Pro380Ser | p.P380S | P56282 | protein_coding | deleterious(0.01) | probably_damaging(0.981) | TCGA-AG-3887-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | irinotecan | SD |
POLE2 | SNV | Missense_Mutation | rs779836154 | c.524C>T | p.Thr175Ile | p.T175I | P56282 | protein_coding | deleterious(0.01) | benign(0.319) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
POLE2 | SNV | Missense_Mutation | novel | c.271G>T | p.Ala91Ser | p.A91S | P56282 | protein_coding | deleterious(0.03) | benign(0.163) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | 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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