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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 PNPLA8 |
 Gene summary |
| Gene information | Gene symbol | PNPLA8 | Gene ID | 50640 |
| Gene name | patatin like phospholipase domain containing 8 | |
| Synonyms | IPLA2-2|IPLA2G|MMLA|PNPLA-gamma|iPLA2gamma | |
| Cytomap | 7q31.1 | |
| Type of gene | protein-coding | |
| Description | calcium-independent phospholipase A2-gammaintracellular membrane-associated calcium-independent phospholipase A2 gammamembrane-associated calcium-independent phospholipase A2 gamma | |
| 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 |
| PNPLA8 | GO:0001516 | prostaglandin biosynthetic process | 15695510 |
| PNPLA8 | GO:0006631 | fatty acid metabolic process | 10744668 |
| PNPLA8 | GO:0008219 | cell death | 15695510 |
| PNPLA8 | GO:0019369 | arachidonic acid metabolic process | 10833412|15695510 |
| PNPLA8 | GO:0034638 | phosphatidylcholine catabolic process | 15695510 |
| PNPLA8 | GO:0043651 | linoleic acid metabolic process | 15695510 |
| PNPLA8 | GO:0046338 | phosphatidylethanolamine catabolic process | 15695510 |
| PNPLA8 | GO:0050482 | arachidonic acid secretion | 10833412|15695510 |
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Gene structures and expression levels for PNPLA8 |
| 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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ENSG00000135241
| 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 |
| TC | UP | ENST00000453085.1 | PNPLA8-207:protein_coding:PNPLA8 | 1.883862e+01 | 1.394015e+00 | 6.019320e-03 | 3.845767e-02 |
| 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 PNPLA8 |
| 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_105867 | chr7 | 108502491:108502642:108514144:108514293:108526029:108526071 | 108514144:108514293 |
| exon_skip_168689 | chr7 | 108514144:108514293:108514436:108515447:108526029:108526120 | 108514436:108515447 |
| exon_skip_179250 | chr7 | 108514144:108514293:108514436:108515574:108526029:108526120 | 108514436:108515574 |
| exon_skip_194295 | chr7 | 108514144:108514293:108514436:108515447:108526029:108526071 | 108514436:108515447 |
| exon_skip_195716 | chr7 | 108479248:108479379:108487945:108487953:108491410:108491467 | 108487945:108487953 |
| exon_skip_243387 | chr7 | 108514144:108514293:108514436:108515574:108526029:108526071 | 108514436:108515574 |
| exon_skip_273539 | chr7 | 108487945:108487953:108491410:108491467:108496584:108496755 | 108491410:108491467 |
| exon_skip_279808 | chr7 | 108515327:108515574:108518190:108518301:108521476:108521521 | 108518190:108518301 |
| exon_skip_282477 | chr7 | 108479184:108479379:108487759:108487953:108491410:108491467 | 108487759:108487953 |
| exon_skip_296297 | chr7 | 108472531:108472675:108479184:108479379:108487759:108487953 | 108479184:108479379 |
| exon_skip_34218 | chr7 | 108514282:108514293:108514436:108515447:108526029:108526120 | 108514436:108515447 |
| exon_skip_55893 | chr7 | 108472531:108472675:108479184:108479379:108487759:108487949 | 108479184:108479379 |
| exon_skip_59477 | chr7 | 108515527:108515574:108518190:108518301:108521476:108521521 | 108518190:108518301 |
| exon_skip_61368 | chr7 | 108479184:108479379:108487945:108487953:108491410:108491467 | 108487945:108487953 |
| exon_skip_68712 | chr7 | 108479248:108479379:108487759:108487953:108491410:108491467 | 108487759:108487953 |
| exon_skip_71081 | chr7 | 108514282:108514293:108514436:108515574:108526029:108526120 | 108514436:108515574 |
| exon_skip_75685 | chr7 | 108502491:108502642:108514144:108514293:108526029:108526120 | 108514144:108514293 |
| exon_skip_79307 | chr7 | 108518190:108518301:108521476:108521521:108526029:108526071 | 108521476:108521521 |
| 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 PNPLA8 |
| 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 |
| ENST00000436062 | 108514436 | 108515574 | 3UTR-3CDS |
| ENST00000422087 | 108518190 | 108518301 | 3UTR-3UTR |
| ENST00000422087 | 108521476 | 108521521 | 3UTR-3UTR |
| ENST00000257694 | 108479184 | 108479379 | Frame-shift |
| ENST00000422087 | 108479184 | 108479379 | Frame-shift |
| ENST00000436062 | 108479184 | 108479379 | Frame-shift |
| ENST00000257694 | 108491410 | 108491467 | Frame-shift |
| ENST00000422087 | 108491410 | 108491467 | Frame-shift |
| ENST00000436062 | 108491410 | 108491467 | Frame-shift |
| ENST00000257694 | 108487759 | 108487953 | In-frame |
| ENST00000422087 | 108487759 | 108487953 | In-frame |
| ENST00000436062 | 108487759 | 108487953 | 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 |
| ENST00000422087 | 108518190 | 108518301 | 3UTR-3UTR |
| ENST00000422087 | 108521476 | 108521521 | 3UTR-3UTR |
| ENST00000257694 | 108479184 | 108479379 | Frame-shift |
| ENST00000422087 | 108479184 | 108479379 | Frame-shift |
| ENST00000436062 | 108479184 | 108479379 | Frame-shift |
| ENST00000257694 | 108487759 | 108487953 | In-frame |
| ENST00000422087 | 108487759 | 108487953 | In-frame |
| ENST00000436062 | 108487759 | 108487953 | 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 |
| ENST00000436062 | 108514436 | 108515574 | 3UTR-3CDS |
| ENST00000422087 | 108518190 | 108518301 | 3UTR-3UTR |
| ENST00000422087 | 108521476 | 108521521 | 3UTR-3UTR |
| ENST00000257694 | 108479184 | 108479379 | Frame-shift |
| ENST00000422087 | 108479184 | 108479379 | Frame-shift |
| ENST00000436062 | 108479184 | 108479379 | Frame-shift |
| ENST00000257694 | 108491410 | 108491467 | Frame-shift |
| ENST00000422087 | 108491410 | 108491467 | Frame-shift |
| ENST00000436062 | 108491410 | 108491467 | Frame-shift |
| ENST00000257694 | 108487759 | 108487953 | In-frame |
| ENST00000422087 | 108487759 | 108487953 | In-frame |
| ENST00000436062 | 108487759 | 108487953 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PNPLA8 |
p-ENSG00000135241_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 |
| ENST00000257694 | 3507 | 782 | 108487759 | 108487953 | 1979 | 2172 | 561 | 625 |
| ENST00000422087 | 3547 | 782 | 108487759 | 108487953 | 2091 | 2284 | 561 | 625 |
| ENST00000436062 | 3479 | 782 | 108487759 | 108487953 | 2057 | 2250 | 561 | 625 |
| 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 |
| ENST00000257694 | 3507 | 782 | 108487759 | 108487953 | 1979 | 2172 | 561 | 625 |
| ENST00000422087 | 3547 | 782 | 108487759 | 108487953 | 2091 | 2284 | 561 | 625 |
| ENST00000436062 | 3479 | 782 | 108487759 | 108487953 | 2057 | 2250 | 561 | 625 |
| 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 |
| ENST00000257694 | 3507 | 782 | 108487759 | 108487953 | 1979 | 2172 | 561 | 625 |
| ENST00000422087 | 3547 | 782 | 108487759 | 108487953 | 2091 | 2284 | 561 | 625 |
| ENST00000436062 | 3479 | 782 | 108487759 | 108487953 | 2057 | 2250 | 561 | 625 |
| 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 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;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 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;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 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 565 | 626 | Alternative sequence | ID=VSP_028005;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 1 | 782 | Chain | ID=PRO_0000303214;Note=Calcium-independent phospholipase A2-gamma |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 445 | 640 | Domain | Note=PNPLA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01161 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 575 | Sequence conflict | Note=NRGITP->IGGITH;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 570 | 571 | Sequence conflict | Note=NR->GI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 622 | 622 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NP80 | 561 | 625 | 623 | 623 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PNPLA8 |
| 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 |
| Mayo | ENST00000422087 | 108521476 | 108521521 | hsa-miR-6740-3p | chr7:108521512-108521519 | 8mer-1a | chr7:108521500-108521519 | 154.00 | -20.96 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-616-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-1185-1-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-1185-2-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519c-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519b-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-523-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518f-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-526a-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-520c-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518e-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518d-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-522-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519a-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-371b-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-373-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| Mayo | ENST00000422087 | 108521476 | 108521521 | hsa-miR-4279 | chr7:108521508-108521515 | 8mer-1a | chr7:108521500-108521519 | 154.00 | -20.96 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-miR-550b-2-5p | chr7:108518239-108518246 | 8mer-1a | chr7:108518227-108518248 | 146.00 | -14.61 |
| Mayo | ENST00000422087 | 108518190 | 108518301 | hsa-let-7f-2-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| MSBB | ENST00000422087 | 108521476 | 108521521 | hsa-miR-6740-3p | chr7:108521512-108521519 | 8mer-1a | chr7:108521500-108521519 | 154.00 | -20.96 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-616-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-1185-1-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-1185-2-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519c-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519b-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-523-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518f-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-526a-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-520c-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518e-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518d-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-522-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519a-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-371b-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-373-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| MSBB | ENST00000422087 | 108521476 | 108521521 | hsa-miR-4279 | chr7:108521508-108521515 | 8mer-1a | chr7:108521500-108521519 | 154.00 | -20.96 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-miR-550b-2-5p | chr7:108518239-108518246 | 8mer-1a | chr7:108518227-108518248 | 146.00 | -14.61 |
| MSBB | ENST00000422087 | 108518190 | 108518301 | hsa-let-7f-2-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| ROSMAP | ENST00000422087 | 108521476 | 108521521 | hsa-miR-6740-3p | chr7:108521512-108521519 | 8mer-1a | chr7:108521500-108521519 | 154.00 | -20.96 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-616-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-1185-1-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-1185-2-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519c-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519b-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-523-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518f-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-526a-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-520c-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518e-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-518d-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-522-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-519a-5p | chr7:108518286-108518293 | 8mer-1a | chr7:108518270-108518293 | 145.00 | -12.70 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-371b-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-373-5p | chr7:108518232-108518239 | 8mer-1a | chr7:108518220-108518239 | 149.00 | -12.11 |
| ROSMAP | ENST00000422087 | 108521476 | 108521521 | hsa-miR-4279 | chr7:108521508-108521515 | 8mer-1a | chr7:108521500-108521519 | 154.00 | -20.96 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-miR-550b-2-5p | chr7:108518239-108518246 | 8mer-1a | chr7:108518227-108518248 | 146.00 | -14.61 |
| ROSMAP | ENST00000422087 | 108518190 | 108518301 | hsa-let-7f-2-3p | chr7:108518276-108518283 | 8mer-1a | chr7:108518262-108518283 | 152.00 | -15.96 |
Top |
SNVs in the skipped exons for PNPLA8 |
| - 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 |
Top |
AD stage-associated exon skippint events for PNPLA8 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PNPLA8 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for PNPLA8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_209208 | -5.281886e-01 | 8.637591e-12 |
Top |
RelatedDrugs for PNPLA8 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PNPLA8 |
| 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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