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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for POLE2 |
 Gene summary |
| Gene information | Gene symbol | POLE2 | Gene ID | 5427 |
| Gene name | DNA polymerase epsilon 2, accessory subunit | |
| Synonyms | DPE2 | |
| Cytomap | 14q21.3 | |
| Type of gene | protein-coding | |
| Description | DNA polymerase epsilon subunit 2DNA polymerase II subunit 2DNA polymerase epsilon subunit Bpolymerase (DNA directed), epsilon 2 (p59 subunit)polymerase (DNA directed), epsilon 2, accessory subunitpolymerase (DNA) epsilon 2, accessory subunit | |
| Modification date | 20180523 | |
| UniProtAcc | P56282 | |
| Context | PubMed: POLE2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for POLE2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for POLE2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for POLE2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112992 | 14 | 50110303:50110388:50113287:50113412:50114010:50114078 | 50113287:50113412 | ENSG00000100479.8 | ENST00000554671.1 |
| exon_skip_112993 | 14 | 50110303:50110388:50113711:50113810:50114010:50114078 | 50113711:50113810 | ENSG00000100479.8 | ENST00000555724.1 |
| exon_skip_112995 | 14 | 50110303:50110388:50114010:50114078:50116982:50117159 | 50114010:50114078 | ENSG00000100479.8 | ENST00000539565.2,ENST00000556584.1,ENST00000216367.5,ENST00000556937.1 |
| exon_skip_113000 | 14 | 50120872:50120932:50121501:50121556:50121722:50121782 | 50121501:50121556 | ENSG00000100479.8 | ENST00000554396.1,ENST00000539565.2,ENST00000556584.1,ENST00000216367.5 |
| exon_skip_113004 | 14 | 50121722:50121812:50122388:50122561:50130032:50130105 | 50122388:50122561 | ENSG00000100479.8 | ENST00000554396.1,ENST00000539565.2,ENST00000556584.1,ENST00000216367.5 |
| exon_skip_113008 | 14 | 50122388:50122561:50130032:50130105:50131343:50131381 | 50130032:50130105 | ENSG00000100479.8 | ENST00000554396.1,ENST00000539565.2,ENST00000556584.1,ENST00000216367.5 |
| exon_skip_113009 | 14 | 50131824:50131881:50133047:50133131:50136241:50136316 | 50133047:50133131 | ENSG00000100479.8 | ENST00000554396.1,ENST00000539565.2,ENST00000556584.1,ENST00000216367.5 |
| exon_skip_113011 | 14 | 50133047:50133131:50136241:50136316:50140840:50140934 | 50136241:50136316 | ENSG00000100479.8 | ENST00000554396.1,ENST00000539565.2,ENST00000556584.1,ENST00000216367.5 |
| exon_skip_113014 | 14 | 50136241:50136316:50140840:50140934:50141067:50141145 | 50140840:50140934 | ENSG00000100479.8 | ENST00000554396.1,ENST00000216367.5 |
| exon_skip_113018 | 14 | 50140840:50140934:50141067:50141145:50146442:50146518 | 50141067:50141145 | ENSG00000100479.8 | ENST00000554396.1,ENST00000216367.5 |
| exon_skip_113022 | 14 | 50141067:50141145:50146442:50146518:50150310:50150411 | 50146442:50146518 | ENSG00000100479.8 | ENST00000554396.1,ENST00000216367.5 |
| exon_skip_113023 | 14 | 50146442:50146518:50150310:50150411:50154853:50154915 | 50150310:50150411 | ENSG00000100479.8 | ENST00000554396.1,ENST00000539565.2,ENST00000556584.1,ENST00000216367.5,ENST00000553805.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for POLE2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112992 | 14 | 50110303:50110388:50113287:50113412:50114010:50114078 | 50113287:50113412 | ENSG00000100479.8 | ENST00000554671.1 |
| exon_skip_112993 | 14 | 50110303:50110388:50113711:50113810:50114010:50114078 | 50113711:50113810 | ENSG00000100479.8 | ENST00000555724.1 |
| exon_skip_112995 | 14 | 50110303:50110388:50114010:50114078:50116982:50117159 | 50114010:50114078 | ENSG00000100479.8 | ENST00000556937.1,ENST00000216367.5,ENST00000539565.2,ENST00000556584.1 |
| exon_skip_113000 | 14 | 50120872:50120932:50121501:50121556:50121722:50121782 | 50121501:50121556 | ENSG00000100479.8 | ENST00000216367.5,ENST00000539565.2,ENST00000556584.1,ENST00000554396.1 |
| exon_skip_113004 | 14 | 50121722:50121812:50122388:50122561:50130032:50130105 | 50122388:50122561 | ENSG00000100479.8 | ENST00000216367.5,ENST00000539565.2,ENST00000556584.1,ENST00000554396.1 |
| exon_skip_113008 | 14 | 50122388:50122561:50130032:50130105:50131343:50131381 | 50130032:50130105 | ENSG00000100479.8 | ENST00000216367.5,ENST00000539565.2,ENST00000556584.1,ENST00000554396.1 |
| exon_skip_113009 | 14 | 50131824:50131881:50133047:50133131:50136241:50136316 | 50133047:50133131 | ENSG00000100479.8 | ENST00000216367.5,ENST00000539565.2,ENST00000556584.1,ENST00000554396.1 |
| exon_skip_113011 | 14 | 50133047:50133131:50136241:50136316:50140840:50140934 | 50136241:50136316 | ENSG00000100479.8 | ENST00000216367.5,ENST00000539565.2,ENST00000556584.1,ENST00000554396.1 |
| exon_skip_113014 | 14 | 50136241:50136316:50140840:50140934:50141067:50141145 | 50140840:50140934 | ENSG00000100479.8 | ENST00000216367.5,ENST00000554396.1 |
| exon_skip_113018 | 14 | 50140840:50140934:50141067:50141145:50146442:50146518 | 50141067:50141145 | ENSG00000100479.8 | ENST00000216367.5,ENST00000554396.1 |
| exon_skip_113022 | 14 | 50141067:50141145:50146442:50146518:50150310:50150411 | 50146442:50146518 | ENSG00000100479.8 | ENST00000216367.5,ENST00000554396.1 |
| exon_skip_113023 | 14 | 50146442:50146518:50150310:50150411:50154853:50154915 | 50150310:50150411 | ENSG00000100479.8 | ENST00000216367.5,ENST00000539565.2,ENST00000556584.1,ENST00000554396.1,ENST00000553805.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for POLE2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000216367 | 50114010 | 50114078 | Frame-shift |
| ENST00000216367 | 50121501 | 50121556 | Frame-shift |
| ENST00000216367 | 50122388 | 50122561 | Frame-shift |
| ENST00000216367 | 50130032 | 50130105 | Frame-shift |
| ENST00000216367 | 50140840 | 50140934 | Frame-shift |
| ENST00000216367 | 50146442 | 50146518 | Frame-shift |
| ENST00000216367 | 50150310 | 50150411 | Frame-shift |
| ENST00000216367 | 50133047 | 50133131 | In-frame |
| ENST00000216367 | 50136241 | 50136316 | In-frame |
| ENST00000216367 | 50141067 | 50141145 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000216367 | 50114010 | 50114078 | Frame-shift |
| ENST00000216367 | 50121501 | 50121556 | Frame-shift |
| ENST00000216367 | 50122388 | 50122561 | Frame-shift |
| ENST00000216367 | 50130032 | 50130105 | Frame-shift |
| ENST00000216367 | 50140840 | 50140934 | Frame-shift |
| ENST00000216367 | 50146442 | 50146518 | Frame-shift |
| ENST00000216367 | 50150310 | 50150411 | Frame-shift |
| ENST00000216367 | 50133047 | 50133131 | In-frame |
| ENST00000216367 | 50136241 | 50136316 | In-frame |
| ENST00000216367 | 50141067 | 50141145 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POLE2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000216367 | 1793 | 527 | 50141067 | 50141145 | 346 | 423 | 82 | 107 |
| ENST00000216367 | 1793 | 527 | 50136241 | 50136316 | 518 | 592 | 139 | 164 |
| ENST00000216367 | 1793 | 527 | 50133047 | 50133131 | 593 | 676 | 164 | 192 |
| Loci of skipped exons in GTEx 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 |
| ENST00000216367 | 1793 | 527 | 50141067 | 50141145 | 346 | 423 | 82 | 107 |
| ENST00000216367 | 1793 | 527 | 50136241 | 50136316 | 518 | 592 | 139 | 164 |
| ENST00000216367 | 1793 | 527 | 50133047 | 50133131 | 593 | 676 | 164 | 192 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| P56282 | 82 | 107 | 83 | 108 | Alternative sequence | ID=VSP_042551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P56282 | 82 | 107 | 86 | 90 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 97 | 100 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 105 | 108 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 1 | 527 | Chain | ID=PRO_0000071562;Note=DNA polymerase epsilon subunit 2 |
| P56282 | 82 | 107 | 91 | 93 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 84 | 84 | Natural variant | ID=VAR_044379;Note=H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs34857719 |
| P56282 | 82 | 107 | 101 | 104 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 139 | 164 | 1 | 527 | Chain | ID=PRO_0000071562;Note=DNA polymerase epsilon subunit 2 |
| P56282 | 139 | 164 | 123 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 164 | 192 | 178 | 191 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 164 | 192 | 1 | 527 | Chain | ID=PRO_0000071562;Note=DNA polymerase epsilon subunit 2 |
| P56282 | 164 | 192 | 168 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| P56282 | 82 | 107 | 83 | 108 | Alternative sequence | ID=VSP_042551;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P56282 | 82 | 107 | 86 | 90 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 97 | 100 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 105 | 108 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 1 | 527 | Chain | ID=PRO_0000071562;Note=DNA polymerase epsilon subunit 2 |
| P56282 | 82 | 107 | 91 | 93 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 82 | 107 | 84 | 84 | Natural variant | ID=VAR_044379;Note=H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs34857719 |
| P56282 | 82 | 107 | 101 | 104 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 139 | 164 | 1 | 527 | Chain | ID=PRO_0000071562;Note=DNA polymerase epsilon subunit 2 |
| P56282 | 139 | 164 | 123 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 164 | 192 | 178 | 191 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
| P56282 | 164 | 192 | 1 | 527 | Chain | ID=PRO_0000071562;Note=DNA polymerase epsilon subunit 2 |
| P56282 | 164 | 192 | 168 | 173 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VBN |
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SNVs in the skipped exons for POLE2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| UCEC | TCGA-BG-A0W1-01 | exon_skip_113000 | 50121502 | 50121556 | 50121527 | 50121531 | Frame_Shift_Del | ATATT | - | p.I348fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_113000 | 50121502 | 50121556 | 50121541 | 50121541 | Frame_Shift_Del | A | - | p.L319fs |
| STAD | TCGA-CG-4305-01 | exon_skip_113000 | 50121502 | 50121556 | 50121545 | 50121545 | Frame_Shift_Del | T | - | p.T344fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_113004 | 50122389 | 50122561 | 50122437 | 50122437 | Frame_Shift_Del | A | - | p.W268fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_113004 | 50122389 | 50122561 | 50122448 | 50122448 | Frame_Shift_Del | A | - | p.L264fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_113018 | 50141068 | 50141145 | 50141076 | 50141076 | Frame_Shift_Del | T | - | p.K105fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_113018 | 50141068 | 50141145 | 50141076 | 50141076 | Frame_Shift_Del | T | - | p.F106fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_113018 | 50141068 | 50141145 | 50141076 | 50141076 | Frame_Shift_Del | T | - | p.K105fs |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_113004 | 50122389 | 50122561 | 50122533 | 50122534 | Frame_Shift_Ins | - | A | p.F261fs |
| LUSC | TCGA-34-5234-01 | exon_skip_113008 | 50130033 | 50130105 | 50130032 | 50130032 | Splice_Site | C | G | p.R252_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| LS411N_LARGE_INTESTINE | 50141068 | 50141145 | 50141076 | 50141076 | Frame_Shift_Del | T | - | p.K105fs |
| MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50114011 | 50114078 | 50114060 | 50114060 | Missense_Mutation | C | T | p.G506R |
| SW1116_LARGE_INTESTINE | 50122389 | 50122561 | 50122404 | 50122404 | Missense_Mutation | G | A | p.R305C |
| LS411N_LARGE_INTESTINE | 50122389 | 50122561 | 50122499 | 50122499 | Missense_Mutation | G | A | p.A273V |
| KMRC1_KIDNEY | 50130033 | 50130105 | 50130094 | 50130094 | Missense_Mutation | C | G | p.D232H |
| DV90_LUNG | 50136242 | 50136316 | 50136286 | 50136286 | Missense_Mutation | G | T | p.P150T |
| SKNDZ_AUTONOMIC_GANGLIA | 50140841 | 50140934 | 50140860 | 50140860 | Missense_Mutation | C | T | p.R133Q |
| PEO1_OVARY | 50140841 | 50140934 | 50140932 | 50140932 | Missense_Mutation | A | G | p.L109P |
| HS939T_SKIN | 50141068 | 50141145 | 50141107 | 50141107 | Missense_Mutation | G | A | p.P95L |
| SNU1040_LARGE_INTESTINE | 50146443 | 50146518 | 50146497 | 50146497 | Missense_Mutation | C | T | p.R64Q |
| CHAGOK1_LUNG | 50150311 | 50150411 | 50150356 | 50150356 | Missense_Mutation | C | T | p.E42K |
| LNCAPCLONEFGC_PROSTATE | 50130033 | 50130105 | 50130102 | 50130102 | Nonsense_Mutation | C | T | p.W229* |
| NB14_AUTONOMIC_GANGLIA | 50136242 | 50136316 | 50136262 | 50136262 | Nonsense_Mutation | C | A | p.E158* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POLE2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_112992 | 14 | 50110303:50110388:50113287:50113412:50114010:50114078 | 50113287:50113412 | ENST00000554671.1 | BRCA | rs34486682 | chr14:50113382 | C/T | 4.12e-08 |
| exon_skip_112992 | 14 | 50110303:50110388:50113287:50113412:50114010:50114078 | 50113287:50113412 | ENST00000554671.1 | BRCA | rs34486682 | chr14:50113382 | C/T | 1.70e-06 |
| exon_skip_112992 | 14 | 50110303:50110388:50113287:50113412:50114010:50114078 | 50113287:50113412 | ENST00000554671.1 | BRCA | rs34486682 | chr14:50113382 | C/T | 1.41e-03 |
| exon_skip_112992 | 14 | 50110303:50110388:50113287:50113412:50114010:50114078 | 50113287:50113412 | ENST00000554671.1 | LUSC | rs34486682 | chr14:50113382 | C/T | 4.68e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLE2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POLE2 |
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RelatedDrugs for POLE2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P56282 | DB00242 | Cladribine | DNA polymerase epsilon subunit 2 | small molecule | approved|investigational |
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RelatedDiseases for POLE2 |
| 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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