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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 POLR2E |
 Gene summary |
| Gene information | Gene symbol | POLR2E | Gene ID | 5434 |
| Gene name | RNA polymerase II subunit E | |
| Synonyms | RPABC1|RPB5|XAP4|hRPB25|hsRPB5 | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | DNA-directed RNA polymerases I, II, and III subunit RPABC1DNA directed RNA polymerase II 23 kda polypeptideDNA-directed RNA polymerase II 23 kDa polypeptideDNA-directed RNA polymerase II subunit EDNA-directed RNA polymerase subunit RPABC1RNA polymera | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WVN5, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| POLR2E | GO:0006366 | transcription by RNA polymerase II | 9852112 |
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Gene structures and expression levels for POLR2E |
| 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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ENSG00000099817
| 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 |
| CB | UP | ENST00000619917.4 | POLR2E-214:protein_coding:POLR2E | 2.185401e+01 | 1.391582e+00 | 1.973800e-03 | 9.122900e-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 POLR2E |
| 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_169816 | chr19 | 1090087:1090145:1091792:1091907:1093904:1093922 | 1091792:1091907 |
| exon_skip_17519 | chr19 | 1090087:1090141:1090908:1090988:1091792:1091907 | 1090908:1090988 |
| exon_skip_183369 | chr19 | 1090087:1090145:1090908:1090988:1091792:1091907 | 1090908:1090988 |
| exon_skip_209032 | chr19 | 1091792:1091907:1093904:1094078:1095259:1095261 | 1093904:1094078 |
| exon_skip_209446 | chr19 | 1090087:1090145:1091792:1091907:1093904:1094078 | 1091792:1091907 |
| exon_skip_233931 | chr19 | 1091792:1091907:1093756:1093903:1095259:1095261 | 1093756:1093903 |
| exon_skip_65013 | chr19 | 1086595:1086988:1088066:1088166:1088609:1088720 | 1088066:1088166 |
| 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 POLR2E |
| 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 |
| ENST00000586746 | 1093904 | 1094078 | Frame-shift |
| ENST00000612655 | 1093904 | 1094078 | Frame-shift |
| ENST00000586746 | 1090908 | 1090988 | In-frame |
| ENST00000612655 | 1090908 | 1090988 | In-frame |
| ENST00000615234 | 1090908 | 1090988 | In-frame |
| 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 |
| ENST00000586746 | 1093904 | 1094078 | Frame-shift |
| ENST00000612655 | 1093904 | 1094078 | Frame-shift |
| ENST00000586746 | 1090908 | 1090988 | In-frame |
| ENST00000612655 | 1090908 | 1090988 | In-frame |
| ENST00000615234 | 1090908 | 1090988 | In-frame |
| 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 |
| ENST00000586746 | 1093904 | 1094078 | Frame-shift |
| ENST00000612655 | 1093904 | 1094078 | Frame-shift |
| ENST00000586746 | 1090908 | 1090988 | In-frame |
| ENST00000612655 | 1090908 | 1090988 | In-frame |
| ENST00000615234 | 1090908 | 1090988 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POLR2E |
p-ENSG00000099817_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 |
| ENST00000586746 | 1113 | 210 | 1090908 | 1090988 | 388 | 467 | 116 | 142 |
| ENST00000612655 | 1766 | 210 | 1090908 | 1090988 | 414 | 493 | 116 | 142 |
| ENST00000615234 | 2848 | 210 | 1090908 | 1090988 | 391 | 470 | 116 | 142 |
| 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 |
| ENST00000586746 | 1113 | 210 | 1090908 | 1090988 | 388 | 467 | 116 | 142 |
| ENST00000612655 | 1766 | 210 | 1090908 | 1090988 | 414 | 493 | 116 | 142 |
| ENST00000615234 | 2848 | 210 | 1090908 | 1090988 | 391 | 470 | 116 | 142 |
| 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 |
| ENST00000586746 | 1113 | 210 | 1090908 | 1090988 | 388 | 467 | 116 | 142 |
| ENST00000612655 | 1766 | 210 | 1090908 | 1090988 | 414 | 493 | 116 | 142 |
| ENST00000615234 | 2848 | 210 | 1090908 | 1090988 | 391 | 470 | 116 | 142 |
| 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 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 1 | 210 | Chain | ID=PRO_0000146075;Note=DNA-directed RNA polymerases I%2C II%2C and III subunit RPABC1 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19388 | 116 | 142 | 132 | 132 | Sequence conflict | Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in POLR2E |
| 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 POLR2E |
| - 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 POLR2E |
| 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 |
| ADstage | MSBB | IFG | exon_skip_209032 | -3.949796e-01 | 3.750862e-02 | chr19 | - | 1091792 | 1091907 | 1093904 | 1094078 | 1095259 | 1095261 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POLR2E |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for POLR2E |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_191597 | 4.064673e-01 | 2.036136e-07 |
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RelatedDrugs for POLR2E |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for POLR2E |
| 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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