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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 PABPC1 |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PABPC1 | GO:2000623 | negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 18447585 |
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Gene structures and expression levels for PABPC1 |
| 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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ENSG00000070756
| 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 |
| HCC | UP | ENST00000520868.5 | PABPC1-216:protein_coding:PABPC1 | 4.013992e+01 | 1.177239e+00 | 8.517520e-09 | 6.036870e-06 |
| STG | UP | ENST00000517403.5 | PABPC1-202:protein_coding:PABPC1 | 1.607424e+01 | 1.988226e+00 | 2.827200e-04 | 1.997477e-02 |
| STG | UP | ENST00000318607.10 | PABPC1-201:protein_coding:PABPC1 | 2.729175e+02 | 9.296053e-01 | 4.897870e-04 | 2.700416e-02 |
| CB | DOWN | ENST00000520868.5 | PABPC1-216:protein_coding:PABPC1 | 4.019404e+02 | -1.509516e+00 | 1.132059e-11 | 1.081710e-09 |
| CB | DOWN | ENST00000523636.5 | PABPC1-223:nonsense_mediated_decay:PABPC1 | 2.133805e+02 | -1.023242e+00 | 4.905492e-08 | 1.159942e-06 |
| CB | DOWN | ENST00000517990.5 | PABPC1-204:protein_coding:PABPC1 | 2.819019e+01 | -1.395764e+00 | 5.888556e-06 | 6.727998e-05 |
| TC | DOWN | ENST00000520868.5 | PABPC1-216:protein_coding:PABPC1 | 2.246115e+02 | -1.022651e+00 | 2.572861e-10 | 4.347819e-08 |
| 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 PABPC1 |
| 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_113711 | chr8 | 100712362:100712457:100712652:100712789:100713087:100713181 | 100712652:100712789 |
| exon_skip_2686 | chr8 | 100713142:100713181:100715462:100715601:100717773:100717888 | 100715462:100715601 |
| exon_skip_28803 | chr8 | 100706703:100706805:100706887:100706997:100709133:100709223 | 100706887:100706997 |
| exon_skip_46056 | chr8 | 100713142:100713181:100715471:100715601:100717773:100717888 | 100715471:100715601 |
| 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 PABPC1 |
| 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 |
| ENST00000318607 | 100715462 | 100715601 | Frame-shift |
| ENST00000318607 | 100706887 | 100706997 | In-frame |
| ENST00000318607 | 100712652 | 100712789 | 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 |
| ENST00000318607 | 100715462 | 100715601 | Frame-shift |
| ENST00000318607 | 100712652 | 100712789 | 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 |
| ENST00000318607 | 100715462 | 100715601 | Frame-shift |
| ENST00000318607 | 100706887 | 100706997 | In-frame |
| ENST00000318607 | 100712652 | 100712789 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PABPC1 |
p-ENSG00000070756_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 |
| ENST00000318607 | 3502 | 636 | 100712652 | 100712789 | 1868 | 2004 | 246 | 291 |
| ENST00000318607 | 3502 | 636 | 100706887 | 100706997 | 2466 | 2575 | 445 | 482 |
| 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 |
| ENST00000318607 | 3502 | 636 | 100712652 | 100712789 | 1868 | 2004 | 246 | 291 |
| 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 |
| ENST00000318607 | 3502 | 636 | 100712652 | 100712789 | 1868 | 2004 | 246 | 291 |
| ENST00000318607 | 3502 | 636 | 100706887 | 100706997 | 2466 | 2575 | 445 | 482 |
| 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 |
| P11940 | 246 | 291 | 1 | 636 | Chain | ID=PRO_0000081698;Note=Polyadenylate-binding protein 1 |
| P11940 | 246 | 291 | 191 | 268 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| P11940 | 246 | 291 | 166 | 289 | Region | Note=CSDE1-binding |
| P11940 | 445 | 482 | 447 | 535 | Alternative sequence | ID=VSP_009846;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| P11940 | 445 | 482 | 1 | 636 | Chain | ID=PRO_0000081698;Note=Polyadenylate-binding protein 1 |
| P11940 | 445 | 482 | 455 | 455 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1%3B partial;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11850402;Dbxref=PMID:11850402 |
| P11940 | 445 | 482 | 460 | 460 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1%3B partial;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11850402;Dbxref=PMID:11850402 |
| P11940 | 445 | 482 | 475 | 475 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P29341 |
| P11940 | 445 | 482 | 481 | 481 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| P11940 | 445 | 482 | 455 | 455 | Mutagenesis | Note=Greatly reduces methylation by CARM1 (in vitro)%3B when associated with A-460. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11850402;Dbxref=PMID:11850402 |
| P11940 | 445 | 482 | 460 | 460 | Mutagenesis | Note=Greatly reduces methylation by CARM1 (in vitro)%3B when associated with A-455. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11850402;Dbxref=PMID:11850402 |
| 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 |
| P11940 | 246 | 291 | 1 | 636 | Chain | ID=PRO_0000081698;Note=Polyadenylate-binding protein 1 |
| P11940 | 246 | 291 | 191 | 268 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| P11940 | 246 | 291 | 166 | 289 | Region | Note=CSDE1-binding |
| 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 |
| P11940 | 246 | 291 | 1 | 636 | Chain | ID=PRO_0000081698;Note=Polyadenylate-binding protein 1 |
| P11940 | 246 | 291 | 191 | 268 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| P11940 | 246 | 291 | 166 | 289 | Region | Note=CSDE1-binding |
| P11940 | 445 | 482 | 447 | 535 | Alternative sequence | ID=VSP_009846;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| P11940 | 445 | 482 | 1 | 636 | Chain | ID=PRO_0000081698;Note=Polyadenylate-binding protein 1 |
| P11940 | 445 | 482 | 455 | 455 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1%3B partial;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11850402;Dbxref=PMID:11850402 |
| P11940 | 445 | 482 | 460 | 460 | Modified residue | Note=Omega-N-methylated arginine%3B by CARM1%3B partial;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11850402;Dbxref=PMID:11850402 |
| P11940 | 445 | 482 | 475 | 475 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P29341 |
| P11940 | 445 | 482 | 481 | 481 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| P11940 | 445 | 482 | 455 | 455 | Mutagenesis | Note=Greatly reduces methylation by CARM1 (in vitro)%3B when associated with A-460. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11850402;Dbxref=PMID:11850402 |
| P11940 | 445 | 482 | 460 | 460 | Mutagenesis | Note=Greatly reduces methylation by CARM1 (in vitro)%3B when associated with A-455. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11850402;Dbxref=PMID:11850402 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PABPC1 |
| 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 PABPC1 |
| - 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 PABPC1 |
| 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 PABPC1 |
| 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 PABPC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PABPC1 |
| 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 PABPC1 |
| 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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