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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for POLE |
 Gene summary |
| Gene information | Gene symbol | POLE | Gene ID | 5426 |
| Gene name | DNA polymerase epsilon, catalytic subunit | |
| Synonyms | CRCS12|FILS|IMAGEI|POLE1 | |
| Cytomap | 12q24.33 | |
| Type of gene | protein-coding | |
| Description | DNA polymerase epsilon catalytic subunit ADNA polymerase II subunit ADNA polymerase epsilon catalytic subunit proteinpolymerase (DNA directed), epsilon, catalytic subunitpolymerase (DNA) epsilon, catalytic subunit | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| POLE | GO:0006287 | base-excision repair, gap-filling | 10559260 |
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Gene structures and expression levels for POLE |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000177084
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000416953.2 | POLE-202:retained_intron:POLE | 1.455052e+00 | 1.085009e+00 | 4.389559e-03 | 4.170775e-02 |
| CB | DOWN | ENST00000541627.2 | POLE-217:retained_intron:POLE | 2.708905e+02 | -1.453082e+00 | 1.980505e-11 | 1.704953e-09 |
| TC | DOWN | ENST00000541627.2 | POLE-217:retained_intron:POLE | 5.200427e+01 | -8.453370e-01 | 9.405691e-05 | 1.538052e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for POLE |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_110446 | chr12 | 132657868:132657970:132658692:132658743:132659295:132659509 | 132658692:132658743 |
| exon_skip_116803 | chr12 | 132624706:132624810:132624905:132624994:132625645:132625770 | 132624905:132624994 |
| exon_skip_146796 | chr12 | 132657868:132657970:132658692:132658743:132659295:132659505 | 132658692:132658743 |
| exon_skip_163000 | chr12 | 132639125:132639298:132641647:132641851:132642177:132642258 | 132641647:132641851 |
| exon_skip_169218 | chr12 | 132680607:132680687:132681138:132681279:132687254:132687328 | 132681138:132681279 |
| exon_skip_20097 | chr12 | 132639125:132639298:132641018:132641851:132642177:132642258 | 132641018:132641851 |
| exon_skip_217208 | chr12 | 132660969:132661164:132661527:132661684:132664004:132664148 | 132661527:132661684 |
| exon_skip_239586 | chr12 | 132657934:132657970:132658692:132658743:132659295:132659509 | 132658692:132658743 |
| exon_skip_267165 | chr12 | 132677578:132677719:132678452:132678569:132679497:132679651 | 132678452:132678569 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for POLE |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000320574 | 132641647 | 132641851 | Frame-shift |
| ENST00000320574 | 132661527 | 132661684 | Frame-shift |
| ENST00000320574 | 132681138 | 132681279 | Frame-shift |
| ENST00000320574 | 132624905 | 132624994 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POLE |
p-ENSG00000177084_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000320574 | 7857 | 2286 | 132624905 | 132624994 | 6702 | 6790 | 2219 | 2248 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q07864 | 2219 | 2248 | 2219 | 2224 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| Q07864 | 2219 | 2248 | 2230 | 2232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| Q07864 | 2219 | 2248 | 2237 | 2239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| Q07864 | 2219 | 2248 | 2241 | 2246 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| Q07864 | 2219 | 2248 | 1 | 2286 | Chain | ID=PRO_0000046455;Note=DNA polymerase epsilon catalytic subunit A |
| Q07864 | 2219 | 2248 | 2248 | 2265 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| Q07864 | 2219 | 2248 | 2221 | 2221 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q07864 | 2219 | 2248 | 2224 | 2224 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q07864 | 2219 | 2248 | 2236 | 2236 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q07864 | 2219 | 2248 | 2238 | 2238 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q07864 | 2219 | 2248 | 2221 | 2238 | Motif | Note=CysB motif |
| Q07864 | 2219 | 2248 | 2237 | 2237 | Sequence conflict | Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q07864 | 2219 | 2248 | 2237 | 2237 | Sequence conflict | Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in POLE |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for POLE |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for POLE |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POLE |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_239586 | rs11147046 | chr12:132751222 | 7.484545e-11 | 7.753897e-08 |
| CB | exon_skip_239586 | rs7963858 | chr12:132630062 | 1.234256e-10 | 1.229784e-07 |
| CB | exon_skip_239586 | rs4883537 | chr12:132649610 | 1.966976e-08 | 1.148877e-05 |
| CB | exon_skip_239586 | rs5744844 | chr12:132661490 | 1.966976e-08 | 1.148877e-05 |
| CB | exon_skip_239586 | rs1132375 | chr12:132754951 | 1.457426e-06 | 4.947189e-04 |
| CB | exon_skip_239586 | rs10747081 | chr12:132735358 | 1.175491e-05 | 2.991875e-03 |
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Correlation with RNA binding proteins (RBPs) for POLE |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SAMD4A | exon_skip_20097 | -4.421802e-01 | 1.551621e-07 |
| CB | PCBP4 | exon_skip_20097 | 5.535318e-01 | 1.021533e-11 |
| CB | RBM45 | exon_skip_20097 | 6.308392e-01 | 1.123593e-15 |
| CB | RBM4 | exon_skip_20097 | -4.767172e-01 | 1.122744e-08 |
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RelatedDrugs for POLE |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q07864 | approved|investigational | DB00242 | Cladribine | small molecule | Q07864 |
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RelatedDiseases for POLE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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