|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for PARP8 |
 Gene summary |
| Gene information | Gene symbol | PARP8 | Gene ID | 79668 |
| Gene name | poly(ADP-ribose) polymerase family member 8 | |
| Synonyms | ARTD16|pART16 | |
| Cytomap | 5q11.1 | |
| Type of gene | protein-coding | |
| Description | poly [ADP-ribose] polymerase 8ADP-ribosyltransferase diphtheria toxin-like 16 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N3A8 | |
| Context | PubMed: PARP8 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PARP8 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. |
 |
Top |
Gene isoform structures and expression levels for PARP8 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PARP8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434691 | 5 | 49961823:49961903:49962918:49963020:50045984:50046022 | 49962918:49963020 | ENSG00000151883.12 | ENST00000503888.1 |
| exon_skip_434692 | 5 | 49962922:49963020:49963904:49963959:50045984:50046022 | 49963904:49963959 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000511363.2,ENST00000503750.2,ENST00000281631.5,ENST00000503790.2,ENST00000515166.1,ENST00000503707.2,ENST00000510303.2,ENST00000502524.1,ENST00000503046.1 |
| exon_skip_434693 | 5 | 49963390:49963435:49963904:49963959:50045984:50046022 | 49963904:49963959 | ENSG00000151883.12 | ENST00000505554.1 |
| exon_skip_434694 | 5 | 49963904:49963959:50034813:50034920:50037664:50037785 | 50034813:50034920 | ENSG00000151883.12 | ENST00000513738.1 |
| exon_skip_434697 | 5 | 49963904:49963959:50045984:50046022:50055476:50055524 | 50045984:50046022 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000505180.1,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3,ENST00000515166.1,ENST00000503707.2,ENST00000502524.1,ENST00000503046.1 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENSG00000151883.12 | ENST00000503888.1,ENST00000510303.2 |
| exon_skip_434699 | 5 | 50045984:50046022:50055476:50055566:50057654:50057721 | 50055476:50055566 | ENSG00000151883.12 | ENST00000503561.3,ENST00000503707.2 |
| exon_skip_434700 | 5 | 50055476:50055566:50056125:50056196:50057654:50057721 | 50056125:50056196 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000505180.1,ENST00000507812.1,ENST00000503888.1,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503193.1,ENST00000515166.1,ENST00000510303.2 |
| exon_skip_434701 | 5 | 50074393:50074484:50084356:50084423:50090040:50090166 | 50084356:50084423 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3 |
| exon_skip_434703 | 5 | 50084356:50084423:50090040:50090166:50090686:50091251 | 50090040:50090166 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3 |
| exon_skip_434706 | 5 | 50090040:50090166:50090686:50091251:50092815:50092866 | 50090686:50091251 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3,ENST00000515166.1 |
| exon_skip_434708 | 5 | 50111265:50111358:50117046:50117172:50118168:50118234 | 50117046:50117172 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000505554.1,ENST00000281631.5,ENST00000515166.1 |
| exon_skip_434710 | 5 | 50118168:50118234:50120741:50120809:50122588:50122637 | 50120741:50120809 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3,ENST00000515166.1 |
| exon_skip_434711 | 5 | 50122588:50122637:50123777:50123890:50124145:50124218 | 50123777:50123890 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514342.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3,ENST00000515166.1 |
| exon_skip_434713 | 5 | 50125725:50125795:50128614:50128688:50129812:50129882 | 50128614:50128688 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000503561.3,ENST00000515166.1 |
| exon_skip_434716 | 5 | 50129812:50129882:50130675:50130849:50137799:50137902 | 50130675:50130849 | ENSG00000151883.12 | ENST00000503561.3 |
| exon_skip_434717 | 5 | 50129812:50129882:50130764:50130849:50137799:50137902 | 50130764:50130849 | ENSG00000151883.12 | ENST00000505697.2,ENST00000514067.2,ENST00000511363.2,ENST00000505554.1,ENST00000503750.2,ENST00000281631.5,ENST00000515166.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PARP8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_434691 | 5 | 49961823:49961903:49962918:49963020:50045984:50046022 | 49962918:49963020 | ENSG00000151883.12 | ENST00000503888.1 |
| exon_skip_434692 | 5 | 49962922:49963020:49963904:49963959:50045984:50046022 | 49963904:49963959 | ENSG00000151883.12 | ENST00000503790.2,ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000514342.2,ENST00000510303.2,ENST00000502524.1,ENST00000281631.5,ENST00000503707.2,ENST00000514067.2,ENST00000503046.1,ENST00000515166.1 |
| exon_skip_434694 | 5 | 49963904:49963959:50034813:50034920:50037664:50037785 | 50034813:50034920 | ENSG00000151883.12 | ENST00000513738.1 |
| exon_skip_434697 | 5 | 49963904:49963959:50045984:50046022:50055476:50055524 | 50045984:50046022 | ENSG00000151883.12 | ENST00000505697.2,ENST00000503750.2,ENST00000514342.2,ENST00000502524.1,ENST00000281631.5,ENST00000503707.2,ENST00000514067.2,ENST00000503046.1,ENST00000515166.1,ENST00000505554.1,ENST00000505180.1,ENST00000503561.3 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENSG00000151883.12 | ENST00000503888.1,ENST00000510303.2 |
| exon_skip_434699 | 5 | 50045984:50046022:50055476:50055566:50057654:50057721 | 50055476:50055566 | ENSG00000151883.12 | ENST00000503707.2,ENST00000503561.3 |
| exon_skip_434700 | 5 | 50055476:50055566:50056125:50056196:50057654:50057721 | 50056125:50056196 | ENSG00000151883.12 | ENST00000505697.2,ENST00000503750.2,ENST00000514342.2,ENST00000507812.1,ENST00000503888.1,ENST00000510303.2,ENST00000281631.5,ENST00000514067.2,ENST00000503193.1,ENST00000515166.1,ENST00000505554.1,ENST00000505180.1 |
| exon_skip_434701 | 5 | 50074393:50074484:50084356:50084423:50090040:50090166 | 50084356:50084423 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000514342.2,ENST00000281631.5,ENST00000514067.2,ENST00000505554.1,ENST00000503561.3 |
| exon_skip_434703 | 5 | 50084356:50084423:50090040:50090166:50090686:50091251 | 50090040:50090166 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000514342.2,ENST00000281631.5,ENST00000514067.2,ENST00000505554.1,ENST00000503561.3 |
| exon_skip_434706 | 5 | 50090040:50090166:50090686:50091251:50092815:50092866 | 50090686:50091251 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000514342.2,ENST00000281631.5,ENST00000514067.2,ENST00000515166.1,ENST00000505554.1,ENST00000503561.3 |
| exon_skip_434708 | 5 | 50111265:50111358:50117046:50117172:50118168:50118234 | 50117046:50117172 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000281631.5,ENST00000515166.1,ENST00000505554.1 |
| exon_skip_434710 | 5 | 50118168:50118234:50120741:50120809:50122588:50122637 | 50120741:50120809 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000514342.2,ENST00000281631.5,ENST00000514067.2,ENST00000515166.1,ENST00000505554.1,ENST00000503561.3 |
| exon_skip_434711 | 5 | 50122588:50122637:50123777:50123890:50124145:50124218 | 50123777:50123890 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000514342.2,ENST00000281631.5,ENST00000514067.2,ENST00000515166.1,ENST00000505554.1,ENST00000503561.3 |
| exon_skip_434713 | 5 | 50125725:50125795:50128614:50128688:50129812:50129882 | 50128614:50128688 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000281631.5,ENST00000514067.2,ENST00000515166.1,ENST00000505554.1,ENST00000503561.3 |
| exon_skip_434716 | 5 | 50129812:50129882:50130675:50130849:50137799:50137902 | 50130675:50130849 | ENSG00000151883.12 | ENST00000503561.3 |
| exon_skip_434717 | 5 | 50129812:50129882:50130764:50130849:50137799:50137902 | 50130764:50130849 | ENSG00000151883.12 | ENST00000505697.2,ENST00000511363.2,ENST00000503750.2,ENST00000281631.5,ENST00000514067.2,ENST00000515166.1,ENST00000505554.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PARP8 |
| 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 |
| ENST00000281631 | 49963904 | 49963959 | Frame-shift |
| ENST00000505697 | 49963904 | 49963959 | Frame-shift |
| ENST00000281631 | 50045984 | 50046022 | Frame-shift |
| ENST00000505697 | 50045984 | 50046022 | Frame-shift |
| ENST00000281631 | 50056125 | 50056196 | Frame-shift |
| ENST00000505697 | 50056125 | 50056196 | Frame-shift |
| ENST00000281631 | 50084356 | 50084423 | Frame-shift |
| ENST00000505697 | 50084356 | 50084423 | Frame-shift |
| ENST00000281631 | 50090686 | 50091251 | Frame-shift |
| ENST00000505697 | 50090686 | 50091251 | Frame-shift |
| ENST00000281631 | 50120741 | 50120809 | Frame-shift |
| ENST00000505697 | 50120741 | 50120809 | Frame-shift |
| ENST00000281631 | 50123777 | 50123890 | Frame-shift |
| ENST00000505697 | 50123777 | 50123890 | Frame-shift |
| ENST00000281631 | 50128614 | 50128688 | Frame-shift |
| ENST00000505697 | 50128614 | 50128688 | Frame-shift |
| ENST00000281631 | 50130764 | 50130849 | Frame-shift |
| ENST00000505697 | 50130764 | 50130849 | Frame-shift |
| ENST00000281631 | 50090040 | 50090166 | In-frame |
| ENST00000505697 | 50090040 | 50090166 | In-frame |
| ENST00000281631 | 50117046 | 50117172 | In-frame |
| ENST00000505697 | 50117046 | 50117172 | 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 |
| ENST00000281631 | 49963904 | 49963959 | Frame-shift |
| ENST00000505697 | 49963904 | 49963959 | Frame-shift |
| ENST00000281631 | 50045984 | 50046022 | Frame-shift |
| ENST00000505697 | 50045984 | 50046022 | Frame-shift |
| ENST00000281631 | 50056125 | 50056196 | Frame-shift |
| ENST00000505697 | 50056125 | 50056196 | Frame-shift |
| ENST00000281631 | 50084356 | 50084423 | Frame-shift |
| ENST00000505697 | 50084356 | 50084423 | Frame-shift |
| ENST00000281631 | 50090686 | 50091251 | Frame-shift |
| ENST00000505697 | 50090686 | 50091251 | Frame-shift |
| ENST00000281631 | 50120741 | 50120809 | Frame-shift |
| ENST00000505697 | 50120741 | 50120809 | Frame-shift |
| ENST00000281631 | 50123777 | 50123890 | Frame-shift |
| ENST00000505697 | 50123777 | 50123890 | Frame-shift |
| ENST00000281631 | 50128614 | 50128688 | Frame-shift |
| ENST00000505697 | 50128614 | 50128688 | Frame-shift |
| ENST00000281631 | 50130764 | 50130849 | Frame-shift |
| ENST00000505697 | 50130764 | 50130849 | Frame-shift |
| ENST00000281631 | 50090040 | 50090166 | In-frame |
| ENST00000505697 | 50090040 | 50090166 | In-frame |
| ENST00000281631 | 50117046 | 50117172 | In-frame |
| ENST00000505697 | 50117046 | 50117172 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PARP8 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000281631 | 7194 | 854 | 50090040 | 50090166 | 896 | 1021 | 246 | 287 |
| ENST00000505697 | 2764 | 854 | 50090040 | 50090166 | 920 | 1045 | 246 | 287 |
| ENST00000281631 | 7194 | 854 | 50117046 | 50117172 | 1827 | 1952 | 556 | 598 |
| ENST00000505697 | 2764 | 854 | 50117046 | 50117172 | 1851 | 1976 | 556 | 598 |
| 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 |
| ENST00000281631 | 7194 | 854 | 50090040 | 50090166 | 896 | 1021 | 246 | 287 |
| ENST00000505697 | 2764 | 854 | 50090040 | 50090166 | 920 | 1045 | 246 | 287 |
| ENST00000281631 | 7194 | 854 | 50117046 | 50117172 | 1827 | 1952 | 556 | 598 |
| ENST00000505697 | 2764 | 854 | 50117046 | 50117172 | 1851 | 1976 | 556 | 598 |
| 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 |
| Q8N3A8 | 246 | 287 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| Q8N3A8 | 246 | 287 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| Q8N3A8 | 556 | 598 | 557 | 598 | Alternative sequence | ID=VSP_020970;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3A8 | 556 | 598 | 557 | 598 | Alternative sequence | ID=VSP_020970;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3A8 | 556 | 598 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| Q8N3A8 | 556 | 598 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| 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 |
| Q8N3A8 | 246 | 287 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| Q8N3A8 | 246 | 287 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| Q8N3A8 | 556 | 598 | 557 | 598 | Alternative sequence | ID=VSP_020970;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3A8 | 556 | 598 | 557 | 598 | Alternative sequence | ID=VSP_020970;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N3A8 | 556 | 598 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
| Q8N3A8 | 556 | 598 | 1 | 854 | Chain | ID=PRO_0000252433;Note=Poly [ADP-ribose] polymerase 8 |
Top |
SNVs in the skipped exons for PARP8 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_434693 exon_skip_434692 | 49963905 | 49963959 | 49963928 | 49963928 | Frame_Shift_Del | T | - | p.F39fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434700 | 50056126 | 50056196 | 50056149 | 50056149 | Frame_Shift_Del | A | - | p.N100fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434700 | 50056126 | 50056196 | 50056162 | 50056162 | Frame_Shift_Del | C | - | p.S104fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434700 | 50056126 | 50056196 | 50056180 | 50056180 | Frame_Shift_Del | A | - | p.Q110fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434701 | 50084357 | 50084423 | 50084388 | 50084388 | Frame_Shift_Del | A | - | p.T234fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434703 | 50090041 | 50090166 | 50090108 | 50090108 | Frame_Shift_Del | A | - | p.K270fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434703 | 50090041 | 50090166 | 50090126 | 50090126 | Frame_Shift_Del | A | - | p.K275fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434706 | 50090687 | 50091251 | 50090703 | 50090703 | Frame_Shift_Del | C | - | p.P295fs |
| LUAD | TCGA-55-8302-01 | exon_skip_434706 | 50090687 | 50091251 | 50090715 | 50090715 | Frame_Shift_Del | G | - | p.G298fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_434706 | 50090687 | 50091251 | 50091154 | 50091154 | Frame_Shift_Del | T | - | p.L444fs |
| UCEC | TCGA-D1-A17M-01 | exon_skip_434706 | 50090687 | 50091251 | 50091154 | 50091154 | Frame_Shift_Del | T | - | p.L444fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_434711 | 50123778 | 50123890 | 50123846 | 50123846 | Frame_Shift_Del | T | - | p.N682fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_434711 | 50123778 | 50123890 | 50123859 | 50123859 | Frame_Shift_Del | A | - | p.K688fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_434711 | 50123778 | 50123890 | 50123859 | 50123859 | Frame_Shift_Del | A | - | p.K688fs |
| STAD | TCGA-CG-5721-01 | exon_skip_434711 | 50123778 | 50123890 | 50123859 | 50123859 | Frame_Shift_Del | A | - | p.A686fs |
| CESC | TCGA-EK-A3GK-01 | exon_skip_434713 | 50128615 | 50128688 | 50128632 | 50128632 | Frame_Shift_Del | A | - | p.K751fs |
| COAD | TCGA-AU-6004-01 | exon_skip_434706 | 50090687 | 50091251 | 50091092 | 50091093 | Frame_Shift_Ins | - | A | p.L423fs |
| UCS | TCGA-N6-A4VG-01 | exon_skip_434697 | 50045985 | 50046022 | 50045994 | 50045994 | Nonsense_Mutation | C | A | p.Y52* |
| BRCA | TCGA-AR-A0U1-01 | exon_skip_434699 | 50055477 | 50055566 | 50055554 | 50055554 | Nonsense_Mutation | A | T | p.R88* |
| BLCA | TCGA-HQ-A5ND-01 | exon_skip_434703 | 50090041 | 50090166 | 50090120 | 50090120 | Nonsense_Mutation | G | T | p.E273* |
| UCEC | TCGA-AP-A059-01 | exon_skip_434706 | 50090687 | 50091251 | 50091162 | 50091162 | Nonsense_Mutation | G | T | p.E447* |
| LUAD | TCGA-55-7724-01 | exon_skip_434706 | 50090687 | 50091251 | 50091199 | 50091199 | Nonsense_Mutation | C | G | p.S459* |
| LUSC | TCGA-37-3789-01 | exon_skip_434711 | 50123778 | 50123890 | 50123778 | 50123778 | Nonsense_Mutation | C | T | p.Q660_splice |
| UCEC | TCGA-AP-A051-01 | exon_skip_434711 | 50123778 | 50123890 | 50123838 | 50123838 | Nonsense_Mutation | G | T | p.E680* |
| BRCA | TCGA-E9-A1N9-01 | exon_skip_434716 | 50130676 | 50130849 | 50130705 | 50130705 | Nonsense_Mutation | G | T | p.E514* |
| HNSC | TCGA-CR-6481-01 | exon_skip_434706 | 50090687 | 50091251 | 50091252 | 50091252 | Splice_Site | G | A | p.A476_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 |
| HEC108_ENDOMETRIUM | 50090687 | 50091251 | 50090703 | 50090703 | Frame_Shift_Del | C | - | p.P295fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 50120742 | 50120809 | 50120801 | 50120801 | Frame_Shift_Del | A | - | p.L641fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 50120742 | 50120809 | 50120797 | 50120798 | Frame_Shift_Ins | - | A | p.PL639fs |
| MDAMB231_BREAST | 49962919 | 49963020 | 49962985 | 49962985 | Missense_Mutation | A | G | p.Q19R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 49963905 | 49963959 | 49963956 | 49963956 | Missense_Mutation | G | A | p.R48K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49963905 | 49963959 | 49963956 | 49963956 | Missense_Mutation | G | A | p.R48K |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49963905 | 49963959 | 49963956 | 49963956 | Missense_Mutation | G | A | p.R48K |
| LB2518EBV_MATCHED_NORMAL_TISSUE | 50055477 | 50055566 | 50055481 | 50055481 | Missense_Mutation | T | A | p.N63K |
| NCIH513_PLEURA | 50055477 | 50055566 | 50055500 | 50055500 | Missense_Mutation | G | C | p.E70Q |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 50055477 | 50055566 | 50055525 | 50055525 | Missense_Mutation | C | T | p.T78I |
| ISTMEL1_SKIN | 50056126 | 50056196 | 50056162 | 50056162 | Missense_Mutation | C | T | p.S104F |
| PACADD137_PANCREAS | 50090687 | 50091251 | 50090704 | 50090704 | Missense_Mutation | C | A | p.P294H |
| EFO21_OVARY | 50090687 | 50091251 | 50090738 | 50090738 | Missense_Mutation | A | T | p.K305N |
| OV56_OVARY | 50090687 | 50091251 | 50090919 | 50090919 | Missense_Mutation | C | T | p.P366S |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50090687 | 50091251 | 50091022 | 50091022 | Missense_Mutation | A | T | p.N400I |
| JHUEM1_ENDOMETRIUM | 50090687 | 50091251 | 50091070 | 50091070 | Missense_Mutation | G | A | p.R416K |
| JHH7_LIVER | 50090687 | 50091251 | 50091104 | 50091104 | Missense_Mutation | A | C | p.K427N |
| JHOS3_OVARY | 50090687 | 50091251 | 50091107 | 50091107 | Missense_Mutation | G | C | p.L428F |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 50090687 | 50091251 | 50091128 | 50091128 | Missense_Mutation | T | G | p.S435R |
| NCIH1623_LUNG | 50090687 | 50091251 | 50091161 | 50091161 | Missense_Mutation | G | T | p.K446N |
| SNU324_PANCREAS | 50090687 | 50091251 | 50091171 | 50091171 | Missense_Mutation | G | A | p.A450T |
| 2313287_STOMACH | 50090687 | 50091251 | 50091171 | 50091171 | Missense_Mutation | G | A | p.A450T |
| NCIH630_LARGE_INTESTINE | 50090687 | 50091251 | 50091225 | 50091225 | Missense_Mutation | T | A | p.S468T |
| HT115_LARGE_INTESTINE | 50090687 | 50091251 | 50091245 | 50091245 | Missense_Mutation | G | T | p.Q474H |
| HEC108_ENDOMETRIUM | 50117047 | 50117172 | 50117170 | 50117170 | Missense_Mutation | A | G | p.R598G |
| NCIH748_LUNG | 50123778 | 50123890 | 50123802 | 50123802 | Missense_Mutation | C | T | p.H668Y |
| SISO_CERVIX | 50123778 | 50123890 | 50123862 | 50123862 | Missense_Mutation | A | G | p.K688E |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50123778 | 50123890 | 50123862 | 50123862 | Missense_Mutation | A | G | p.K688E |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 50128615 | 50128688 | 50128641 | 50128641 | Missense_Mutation | G | A | p.A754T |
| NCIH1793_LUNG | 50128615 | 50128688 | 50128647 | 50128647 | Missense_Mutation | G | T | p.D756Y |
| NCIH2126_LUNG | 50128615 | 50128688 | 50128647 | 50128647 | Missense_Mutation | G | C | p.D756H |
| HCT15_LARGE_INTESTINE | 50128615 | 50128688 | 50128653 | 50128653 | Missense_Mutation | C | A | p.P758T |
| LC1F_LUNG | 50130765 | 50130849 | 50130774 | 50130774 | Missense_Mutation | C | T | p.S796L |
| LC1F_LUNG | 50130676 | 50130849 | 50130774 | 50130774 | Missense_Mutation | C | T | p.S796L |
| LC1SQSF_LUNG | 50130765 | 50130849 | 50130774 | 50130774 | Missense_Mutation | C | T | p.S796L |
| LC1SQSF_LUNG | 50130676 | 50130849 | 50130774 | 50130774 | Missense_Mutation | C | T | p.S796L |
| LC1SQ_LUNG | 50130765 | 50130849 | 50130774 | 50130774 | Missense_Mutation | C | T | p.S796L |
| LC1SQ_LUNG | 50130676 | 50130849 | 50130774 | 50130774 | Missense_Mutation | C | T | p.S796L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 50130765 | 50130849 | 50130776 | 50130776 | Missense_Mutation | T | C | p.S797P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 50130676 | 50130849 | 50130776 | 50130776 | Missense_Mutation | T | C | p.S797P |
| HEC108_ENDOMETRIUM | 50130765 | 50130849 | 50130822 | 50130822 | Missense_Mutation | A | G | p.D812G |
| HEC108_ENDOMETRIUM | 50130676 | 50130849 | 50130822 | 50130822 | Missense_Mutation | A | G | p.D812G |
| A172_CENTRAL_NERVOUS_SYSTEM | 50090687 | 50091251 | 50091159 | 50091159 | Nonsense_Mutation | A | T | p.K446* |
| SNU81_LARGE_INTESTINE | 50123778 | 50123890 | 50123838 | 50123838 | Nonsense_Mutation | G | T | p.E680* |
| NCIH2135_LUNG | 50090041 | 50090166 | 50090166 | 50090166 | Splice_Site | G | T | p.R288M |
| COLO783_SKIN | 50128615 | 50128688 | 50128616 | 50128616 | Splice_Site | G | A | p.G745G |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PARP8 |
| 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_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | BLCA | rs282549 | chr5:50053015 | G/A | 2.19e-04 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | BLCA | rs282549 | chr5:50053015 | G/A | 9.74e-04 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | ESCA | rs282549 | chr5:50053015 | G/A | 2.74e-06 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | BRCA | rs282549 | chr5:50053015 | G/A | 1.45e-03 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | BRCA | rs282549 | chr5:50053015 | G/A | 3.82e-03 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | LGG | rs282549 | chr5:50053015 | G/A | 2.29e-08 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | LGG | rs282549 | chr5:50053015 | G/A | 1.13e-06 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | KIRC | rs282549 | chr5:50053015 | G/A | 5.06e-09 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | KIRC | rs282549 | chr5:50053015 | G/A | 8.67e-05 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | KIRC | rs282549 | chr5:50053015 | G/A | 1.32e-04 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | LUAD | rs282549 | chr5:50053015 | G/A | 2.68e-13 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | OV | rs282549 | chr5:50053015 | G/A | 1.68e-03 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | PAAD | rs282549 | chr5:50053015 | G/A | 7.61e-04 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | PRAD | rs282549 | chr5:50053015 | G/A | 1.53e-05 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | PRAD | rs282549 | chr5:50053015 | G/A | 3.71e-05 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | STAD | rs282549 | chr5:50053015 | G/A | 1.48e-05 |
| exon_skip_434698 | 5 | 50045984:50046022:50052952:50053049:50055476:50055524 | 50052952:50053049 | ENST00000503888.1,ENST00000510303.2 | THCA | rs282549 | chr5:50053015 | G/A | 2.47e-16 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARP8 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARP8 |
Top |
RelatedDrugs for PARP8 |
| 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 |
Top |
RelatedDiseases for PARP8 |
| 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)
|