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Gene: POLQ |
Gene summary for POLQ |
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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 |
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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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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 |
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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: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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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
POLQ | SNV | Missense_Mutation | novel | c.1063N>T | p.Asp355Tyr | p.D355Y | O75417 | protein_coding | deleterious(0) | possibly_damaging(0.719) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POLQ | SNV | Missense_Mutation | c.4588N>A | p.Glu1530Lys | p.E1530K | O75417 | protein_coding | tolerated(0.1) | benign(0.015) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
POLQ | SNV | Missense_Mutation | c.4319N>T | p.Ser1440Leu | p.S1440L | O75417 | protein_coding | deleterious(0) | possibly_damaging(0.535) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
POLQ | SNV | Missense_Mutation | novel | c.3191G>T | p.Arg1064Ile | p.R1064I | O75417 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.641) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POLQ | SNV | Missense_Mutation | c.2340A>C | p.Gln780His | p.Q780H | O75417 | protein_coding | deleterious(0.01) | possibly_damaging(0.521) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
POLQ | SNV | Missense_Mutation | novel | c.6569N>C | p.Leu2190Ser | p.L2190S | O75417 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
POLQ | SNV | Missense_Mutation | rs771235928 | c.677G>A | p.Arg226Gln | p.R226Q | O75417 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A17M-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLQ | SNV | Missense_Mutation | c.6052N>A | p.Pro2018Thr | p.P2018T | O75417 | protein_coding | deleterious(0.03) | possibly_damaging(0.563) | TCGA-D1-A1NU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD | |
POLQ | SNV | Missense_Mutation | novel | c.4376N>C | p.Ile1459Thr | p.I1459T | O75417 | protein_coding | tolerated(0.53) | benign(0) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
POLQ | SNV | Missense_Mutation | rs746582878 | c.3659N>A | p.Cys1220Tyr | p.C1220Y | O75417 | protein_coding | tolerated_low_confidence(0.61) | benign(0) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | 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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