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Gene: POLA1 |
Gene summary for POLA1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | POLA1 | Gene ID | 5422 |
Gene name | DNA polymerase alpha 1, catalytic subunit | |
Gene Alias | NSX | |
Cytomap | Xp22.11-p21.3 | |
Gene Type | protein-coding | GO ID | GO:0000278 | UniProtAcc | A6NMQ1 |
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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 |
5422 | POLA1 | CCI_1 | Human | Cervix | CC | 6.23e-09 | 7.91e-01 | 0.528 |
5422 | POLA1 | CCI_2 | Human | Cervix | CC | 8.48e-09 | 9.55e-01 | 0.5249 |
5422 | POLA1 | CCI_3 | Human | Cervix | CC | 2.72e-13 | 7.89e-01 | 0.516 |
5422 | POLA1 | AEH-subject5 | Human | Endometrium | AEH | 7.32e-03 | 2.10e-01 | -0.2953 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00062602 | Cervix | CC | DNA replication | 48/2311 | 260/18723 | 2.70e-03 | 1.85e-02 | 48 |
GO:00324791 | Cervix | CC | regulation of type I interferon production | 21/2311 | 95/18723 | 5.32e-03 | 3.10e-02 | 21 |
GO:00326061 | Cervix | CC | type I interferon production | 21/2311 | 95/18723 | 5.32e-03 | 3.10e-02 | 21 |
GO:00718977 | Endometrium | AEH | DNA biosynthetic process | 37/2100 | 180/18723 | 1.87e-04 | 2.39e-03 | 37 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
POLA1 | SNV | Missense_Mutation | novel | c.3688N>A | p.Cys1230Ser | p.C1230S | protein_coding | deleterious(0) | probably_damaging(0.951) | TCGA-KU-A66S-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
POLA1 | SNV | Missense_Mutation | rs766311613 | c.1168N>A | p.Glu390Lys | p.E390K | protein_coding | deleterious(0.04) | probably_damaging(0.93) | TCGA-UF-A7JT-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
POLA1 | SNV | Missense_Mutation | rs756416451 | c.3955A>G | p.Ile1319Val | p.I1319V | protein_coding | tolerated(0.29) | benign(0.001) | TCGA-HC-8256-01 | Prostate | prostate adenocarcinoma | Male | <65 | 7 | Unknown | Unknown | SD | |
POLA1 | SNV | Missense_Mutation | c.1292N>G | p.Tyr431Cys | p.Y431C | protein_coding | deleterious(0.01) | probably_damaging(0.926) | TCGA-BR-4280-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | ||
POLA1 | SNV | Missense_Mutation | rs748968830 | c.365N>A | p.Arg122His | p.R122H | protein_coding | tolerated(0.33) | benign(0) | TCGA-BR-4368-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
POLA1 | SNV | Missense_Mutation | c.2270N>C | p.Phe757Ser | p.F757S | protein_coding | deleterious(0.02) | benign(0.25) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
POLA1 | SNV | Missense_Mutation | c.1765N>C | p.Phe589Leu | p.F589L | protein_coding | deleterious(0.02) | possibly_damaging(0.899) | TCGA-BR-A4QL-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | CR | ||
POLA1 | SNV | Missense_Mutation | novel | c.3332N>A | p.Arg1111Gln | p.R1111Q | protein_coding | tolerated(0.08) | probably_damaging(0.97) | TCGA-CG-4460-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | capecitabine | PD | |
POLA1 | SNV | Missense_Mutation | rs200756660 | c.617N>T | p.Thr206Met | p.T206M | protein_coding | tolerated(0.14) | benign(0.003) | TCGA-HJ-7597-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | CR | |
POLA1 | SNV | Missense_Mutation | c.4085N>A | p.Arg1362Gln | p.R1362Q | protein_coding | tolerated(0.08) | possibly_damaging(0.832) | TCGA-VQ-A8P8-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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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 |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | BROMOVINYL DEOXYURIDINE | |||
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | FLUDARABINE | FLUDARABINE | ||
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | CLOFARABINE | CLOFARABINE | ||
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | CLOFARABINE | CLOFARABINE | ||
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | DIGALLIC ACID | DIGALLIC ACID | 1705574 | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | NELARABINE | NELARABINE | ||
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | FLUDARABINE | FLUDARABINE | ||
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL803 | CYTARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1750 | CLOFARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1096882 | FLUDARABINE PHOSPHATE |
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