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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 PAPOLA |
 Gene summary |
| Gene information | Gene symbol | PAPOLA | Gene ID | 10914 |
| Gene name | poly(A) polymerase alpha | |
| Synonyms | PAP|PAP-alpha | |
| Cytomap | 14q32.2 | |
| Type of gene | protein-coding | |
| Description | poly(A) polymerase alphapolynucleotide adenylyltransferase alpha | |
| 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 |
| PAPOLA | GO:0006378 | mRNA polyadenylation | 7590244|19224921 |
| PAPOLA | GO:0031440 | regulation of mRNA 3'-end processing | 19224921 |
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Gene structures and expression levels for PAPOLA |
| 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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ENSG00000090060
| 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 | ENST00000557406.5 | PAPOLA-224:retained_intron:PAPOLA | 1.090702e+00 | 2.355453e+00 | 4.248198e-04 | 7.860892e-03 |
| CB | UP | ENST00000556459.1 | PAPOLA-220:protein_coding:PAPOLA | 2.496167e+02 | 1.088431e+00 | 3.740511e-11 | 2.814275e-09 |
| CB | UP | ENST00000553689.5 | PAPOLA-205:nonsense_mediated_decay:PAPOLA | 1.076226e+01 | 1.226342e+00 | 7.603135e-10 | 3.474259e-08 |
| CB | UP | ENST00000555912.1 | PAPOLA-217:retained_intron:PAPOLA | 4.096873e+01 | 8.586179e-01 | 1.006931e-09 | 4.398545e-08 |
| CB | UP | ENST00000392990.6 | PAPOLA-202:protein_coding:PAPOLA | 1.882861e+02 | 8.178484e-01 | 8.301095e-07 | 1.279660e-05 |
| CB | UP | ENST00000555224.1 | PAPOLA-213:retained_intron:PAPOLA | 9.312070e+00 | 1.608575e+00 | 1.346166e-06 | 1.929754e-05 |
| CB | UP | ENST00000557406.5 | PAPOLA-224:retained_intron:PAPOLA | 1.976456e+01 | 1.221880e+00 | 1.868135e-06 | 2.551254e-05 |
| CB | UP | ENST00000554130.5 | PAPOLA-207:lncRNA:PAPOLA | 2.825028e+00 | 1.284265e+00 | 5.631384e-05 | 4.546716e-04 |
| CB | DOWN | ENST00000555131.1 | PAPOLA-212:retained_intron:PAPOLA | 1.146060e+01 | -1.325315e+00 | 2.408169e-04 | 1.557895e-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 PAPOLA |
| 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_10044 | chr14 | 96531475:96531586:96532331:96532420:96532511:96532649 | 96532331:96532420 |
| exon_skip_10327 | chr14 | 96560649:96560711:96562819:96562893:96564955:96564988 | 96562819:96562893 |
| exon_skip_109709 | chr14 | 96531475:96531586:96532331:96532420:96532511:96532617 | 96532331:96532420 |
| exon_skip_130131 | chr14 | 96536976:96537060:96542243:96542296:96542774:96542893 | 96542243:96542296 |
| exon_skip_16068 | chr14 | 96532538:96532649:96534491:96534563:96535879:96535999 | 96534491:96534563 |
| exon_skip_166576 | chr14 | 96521006:96521072:96525310:96525391:96527430:96527539 | 96525310:96525391 |
| exon_skip_192072 | chr14 | 96525310:96525391:96527953:96528006:96531475:96531586 | 96527953:96528006 |
| exon_skip_196506 | chr14 | 96534491:96534563:96535879:96535999:96536976:96537047 | 96535879:96535999 |
| exon_skip_197626 | chr14 | 96521063:96521072:96527430:96527539:96527953:96528002 | 96527430:96527539 |
| exon_skip_206899 | chr14 | 96556175:96556413:96562819:96562893:96564955:96564988 | 96562819:96562893 |
| exon_skip_228392 | chr14 | 96544149:96544258:96547797:96547918:96552480:96552543 | 96547797:96547918 |
| exon_skip_232314 | chr14 | 96535879:96535999:96536976:96537060:96542243:96542296 | 96536976:96537060 |
| exon_skip_278160 | chr14 | 96525348:96525391:96527430:96527539:96527953:96528006 | 96527430:96527539 |
| exon_skip_28244 | chr14 | 96525348:96525391:96527953:96528006:96531475:96531586 | 96527953:96528006 |
| exon_skip_292471 | chr14 | 96525310:96525391:96527430:96527539:96527953:96528002 | 96527430:96527539 |
| exon_skip_53195 | chr14 | 96521063:96521072:96525310:96525391:96527953:96528002 | 96525310:96525391 |
| exon_skip_58605 | chr14 | 96532511:96532649:96534491:96534563:96535879:96535999 | 96534491:96534563 |
| exon_skip_60280 | chr14 | 96521063:96521072:96525310:96525391:96527430:96527496 | 96525310:96525391 |
| exon_skip_66456 | chr14 | 96502558:96502600:96520055:96520228:96521006:96521072 | 96520055:96520228 |
| exon_skip_83892 | chr14 | 96556175:96556413:96560649:96560711:96562819:96562893 | 96560649:96560711 |
| exon_skip_95484 | chr14 | 96544243:96544258:96547797:96547918:96552480:96552543 | 96547797:96547918 |
| 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 PAPOLA |
| 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 |
| ENST00000216277 | 96525310 | 96525391 | Frame-shift |
| ENST00000216277 | 96527430 | 96527539 | Frame-shift |
| ENST00000216277 | 96534491 | 96534563 | Frame-shift |
| ENST00000216277 | 96536976 | 96537060 | Frame-shift |
| ENST00000216277 | 96547797 | 96547918 | Frame-shift |
| ENST00000216277 | 96520055 | 96520228 | In-frame |
| ENST00000216277 | 96532331 | 96532420 | In-frame |
| ENST00000216277 | 96560649 | 96560711 | In-frame |
| ENST00000216277 | 96562819 | 96562893 | 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 |
| ENST00000216277 | 96525310 | 96525391 | Frame-shift |
| ENST00000216277 | 96527430 | 96527539 | Frame-shift |
| ENST00000216277 | 96534491 | 96534563 | Frame-shift |
| ENST00000216277 | 96547797 | 96547918 | Frame-shift |
| ENST00000216277 | 96532331 | 96532420 | In-frame |
| ENST00000216277 | 96560649 | 96560711 | 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 |
| ENST00000216277 | 96525310 | 96525391 | Frame-shift |
| ENST00000216277 | 96527430 | 96527539 | Frame-shift |
| ENST00000216277 | 96534491 | 96534563 | Frame-shift |
| ENST00000216277 | 96535879 | 96535999 | Frame-shift |
| ENST00000216277 | 96536976 | 96537060 | Frame-shift |
| ENST00000216277 | 96547797 | 96547918 | Frame-shift |
| ENST00000216277 | 96532331 | 96532420 | In-frame |
| ENST00000216277 | 96542243 | 96542296 | In-frame |
| ENST00000216277 | 96560649 | 96560711 | In-frame |
| ENST00000216277 | 96562819 | 96562893 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAPOLA |
p-ENSG00000090060_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 |
| ENST00000216277 | 4536 | 745 | 96520055 | 96520228 | 230 | 402 | 3 | 60 |
| ENST00000216277 | 4536 | 745 | 96532331 | 96532420 | 829 | 917 | 203 | 232 |
| ENST00000216277 | 4536 | 745 | 96560649 | 96560711 | 2226 | 2287 | 668 | 689 |
| ENST00000216277 | 4536 | 745 | 96562819 | 96562893 | 2289 | 2362 | 689 | 714 |
| 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 |
| ENST00000216277 | 4536 | 745 | 96532331 | 96532420 | 829 | 917 | 203 | 232 |
| ENST00000216277 | 4536 | 745 | 96560649 | 96560711 | 2226 | 2287 | 668 | 689 |
| 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 |
| ENST00000216277 | 4536 | 745 | 96532331 | 96532420 | 829 | 917 | 203 | 232 |
| ENST00000216277 | 4536 | 745 | 96542243 | 96542296 | 1337 | 1389 | 372 | 389 |
| ENST00000216277 | 4536 | 745 | 96560649 | 96560711 | 2226 | 2287 | 668 | 689 |
| ENST00000216277 | 4536 | 745 | 96562819 | 96562893 | 2289 | 2362 | 689 | 714 |
| 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 |
| P51003 | 3 | 60 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 3 | 60 | 53 | 57 | Compositional bias | Note=Poly-Glu |
| P51003 | 3 | 60 | 10 | 10 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P51003 | 3 | 60 | 24 | 24 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 |
| P51003 | 3 | 60 | 2 | 3 | Sequence conflict | Note=PF->GTSNSPGHSSFSAPSTKKIKTTRKQNIAWC;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P51003 | 203 | 232 | 228 | 228 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P51003 | 203 | 232 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 203 | 232 | 204 | 238 | Sequence conflict | Note=CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS->MRKPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P51003 | 668 | 689 | 286 | 745 | Alternative sequence | ID=VSP_012896;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P51003 | 668 | 689 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 668 | 689 | 677 | 745 | Region | Note=Required for interaction with NUDT21 |
| P51003 | 689 | 714 | 286 | 745 | Alternative sequence | ID=VSP_012896;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P51003 | 689 | 714 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 689 | 714 | 677 | 745 | Region | Note=Required for interaction with NUDT21 |
| 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 |
| P51003 | 203 | 232 | 228 | 228 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P51003 | 203 | 232 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 203 | 232 | 204 | 238 | Sequence conflict | Note=CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS->MRKPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P51003 | 668 | 689 | 286 | 745 | Alternative sequence | ID=VSP_012896;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P51003 | 668 | 689 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 668 | 689 | 677 | 745 | Region | Note=Required for interaction with NUDT21 |
| 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 |
| P51003 | 203 | 232 | 228 | 228 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P51003 | 203 | 232 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 203 | 232 | 204 | 238 | Sequence conflict | Note=CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS->MRKPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P51003 | 372 | 389 | 286 | 745 | Alternative sequence | ID=VSP_012896;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P51003 | 372 | 389 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 668 | 689 | 286 | 745 | Alternative sequence | ID=VSP_012896;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P51003 | 668 | 689 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 668 | 689 | 677 | 745 | Region | Note=Required for interaction with NUDT21 |
| P51003 | 689 | 714 | 286 | 745 | Alternative sequence | ID=VSP_012896;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| P51003 | 689 | 714 | 2 | 745 | Chain | ID=PRO_0000051612;Note=Poly(A) polymerase alpha |
| P51003 | 689 | 714 | 677 | 745 | Region | Note=Required for interaction with NUDT21 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PAPOLA |
| 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 PAPOLA |
| - 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 PAPOLA |
| 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 PAPOLA |
| 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 PAPOLA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_292471 | -4.683372e-01 | 4.805946e-10 |
| CB | RBM6 | exon_skip_292471 | -4.591244e-01 | 1.150982e-09 |
| CB | TRA2A | exon_skip_292471 | -5.260632e-01 | 1.071240e-12 |
| CB | RBM45 | exon_skip_292471 | 6.611277e-01 | 2.449242e-21 |
| CB | PTBP1 | exon_skip_292471 | -4.351992e-01 | 9.885481e-09 |
| CB | MATR3 | exon_skip_58605 | -4.335945e-01 | 1.565794e-08 |
| CB | TRA2A | exon_skip_58605 | -4.698009e-01 | 6.122590e-10 |
| CB | HNRNPA2B1 | exon_skip_58605 | -5.109850e-01 | 9.383278e-12 |
| CB | TRA2A | exon_skip_95484 | -5.034108e-01 | 1.566208e-11 |
| CB | ZNF638 | exon_skip_205080 | -4.707081e-01 | 3.822342e-10 |
| CB | TRA2A | exon_skip_205080 | -4.078124e-01 | 9.525743e-08 |
| CB | NUP42 | exon_skip_205080 | 4.495261e-01 | 2.782443e-09 |
| CB | PTBP1 | exon_skip_205080 | -4.161706e-01 | 4.873670e-08 |
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RelatedDrugs for PAPOLA |
| 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 PAPOLA |
| 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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