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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 PPP6R3 |
Gene summary |
| Gene information | Gene symbol | PPP6R3 | Gene ID | 55291 |
| Gene name | protein phosphatase 6 regulatory subunit 3 | |
| Synonyms | C11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3 | |
| Cytomap | 11q13.2 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPL | |
| 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 |
| PPP6R3 | GO:0043666 | regulation of phosphoprotein phosphatase activity | 16716191 |
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Gene structures and expression levels for PPP6R3 |
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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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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000265637.8 | PPP6R3-202:protein_coding:PPP6R3 | 7.271076e+01 | 9.826604e-01 | 2.224265e-03 | 4.172121e-02 |
| PG | UP | ENST00000524904.5 | PPP6R3-206:protein_coding:PPP6R3 | 2.829152e+01 | 1.780286e+00 | 4.938042e-03 | 4.528226e-02 |
| CB | UP | ENST00000530734.1 | PPP6R3-221:protein_coding:PPP6R3 | 2.286092e+01 | 8.332766e-01 | 1.789934e-08 | 4.950600e-07 |
| CB | DOWN | ENST00000265637.8 | PPP6R3-202:protein_coding:PPP6R3 | 1.126256e+03 | -1.205778e+00 | 2.496832e-07 | 4.600361e-06 |
| CB | UP | ENST00000525421.5 | PPP6R3-209:nonsense_mediated_decay:PPP6R3 | 1.223747e+01 | 8.445786e-01 | 2.311151e-05 | 2.139862e-04 |
| CB | UP | ENST00000534534.5 | PPP6R3-226:protein_coding:PPP6R3 | 5.543067e+00 | 1.000691e+00 | 7.459083e-03 | 2.734097e-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 PPP6R3 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_100730 | chr11 | 68460813:68460827:68505145:68505249:68519501:68519651 | 68505145:68505249 |
| exon_skip_100929 | chr11 | 68460752:68460827:68519501:68519651:68537659:68537891 | 68519501:68519651 |
| exon_skip_109289 | chr11 | 68558642:68558679:68564303:68564432:68567014:68567166 | 68564303:68564432 |
| exon_skip_112385 | chr11 | 68575973:68576043:68583043:68583129:68587945:68588024 | 68583043:68583129 |
| exon_skip_126638 | chr11 | 68574109:68574224:68575958:68576043:68587978:68588024 | 68575958:68576043 |
| exon_skip_140704 | chr11 | 68603342:68603492:68609473:68609628:68609904:68610023 | 68609473:68609628 |
| exon_skip_141018 | chr11 | 68583043:68583129:68587945:68588024:68590660:68590714 | 68587945:68588024 |
| exon_skip_141203 | chr11 | 68575958:68576043:68587945:68588024:68590660:68590714 | 68587945:68588024 |
| exon_skip_147387 | chr11 | 68505145:68505271:68515028:68515166:68519501:68519651 | 68515028:68515166 |
| exon_skip_148971 | chr11 | 68603348:68603492:68609611:68609628:68609904:68610023 | 68609611:68609628 |
| exon_skip_173569 | chr11 | 68603348:68603492:68609473:68609628:68609904:68610023 | 68609473:68609628 |
| exon_skip_17874 | chr11 | 68575958:68576043:68583043:68583129:68587945:68588024 | 68583043:68583129 |
| exon_skip_185482 | chr11 | 68574109:68574224:68575958:68576043:68587927:68588024 | 68575958:68576043 |
| exon_skip_196815 | chr11 | 68460813:68460827:68519501:68519651:68544838:68545024 | 68519501:68519651 |
| exon_skip_219021 | chr11 | 68519635:68519651:68537659:68537891:68544838:68545024 | 68537659:68537891 |
| exon_skip_23223 | chr11 | 68575958:68576043:68587927:68588024:68590660:68590714 | 68587927:68588024 |
| exon_skip_232278 | chr11 | 68583043:68583129:68587798:68588024:68590660:68590714 | 68587798:68588024 |
| exon_skip_23902 | chr11 | 68574109:68574224:68575958:68576043:68583043:68583129 | 68575958:68576043 |
| exon_skip_241676 | chr11 | 68583043:68583129:68587927:68588024:68590660:68590714 | 68587927:68588024 |
| exon_skip_254009 | chr11 | 68460813:68460827:68519501:68519651:68537659:68537669 | 68519501:68519651 |
| exon_skip_256699 | chr11 | 68564303:68564432:68566999:68567166:68569748:68569897 | 68566999:68567166 |
| exon_skip_259942 | chr11 | 68564424:68564432:68567014:68567166:68569748:68569897 | 68567014:68567166 |
| exon_skip_272291 | chr11 | 68575958:68576043:68583043:68583129:68587798:68588024 | 68583043:68583129 |
| exon_skip_280143 | chr11 | 68575973:68576043:68583043:68583129:68587798:68588024 | 68583043:68583129 |
| exon_skip_289799 | chr11 | 68460813:68460827:68505145:68505271:68519501:68519651 | 68505145:68505271 |
| exon_skip_38109 | chr11 | 68609611:68609628:68609904:68610023:68613066:68613117 | 68609904:68610023 |
| exon_skip_40441 | chr11 | 68603342:68603492:68609611:68609628:68609904:68610023 | 68609611:68609628 |
| exon_skip_64370 | chr11 | 68460813:68460827:68515028:68515166:68519501:68519651 | 68515028:68515166 |
| exon_skip_65307 | chr11 | 68548067:68548204:68551121:68551186:68554145:68554220 | 68551121:68551186 |
| exon_skip_66142 | chr11 | 68575973:68576043:68583043:68583129:68587927:68588024 | 68583043:68583129 |
| exon_skip_67741 | chr11 | 68460752:68460827:68537659:68537891:68544838:68545024 | 68537659:68537891 |
| exon_skip_7157 | chr11 | 68603342:68603492:68609904:68610023:68613066:68613117 | 68609904:68610023 |
| exon_skip_74249 | chr11 | 68519635:68519651:68522494:68522689:68537659:68537669 | 68522494:68522689 |
| exon_skip_7998 | chr11 | 68575958:68576043:68587978:68588024:68590660:68590714 | 68587978:68588024 |
| exon_skip_86204 | chr11 | 68590660:68590714:68591576:68591706:68596097:68596218 | 68591576:68591706 |
| exon_skip_86362 | chr11 | 68519635:68519651:68544838:68545024:68548067:68548204 | 68544838:68545024 |
| exon_skip_87175 | chr11 | 68575958:68576043:68583043:68583129:68587927:68588024 | 68583043:68583129 |
| exon_skip_89426 | chr11 | 68460813:68460827:68505145:68505271:68515028:68515166 | 68505145:68505271 |
| exon_skip_89612 | chr11 | 68548067:68548204:68567014:68567166:68569748:68569897 | 68567014:68567166 |
| exon_skip_95613 | chr11 | 68551121:68551186:68554145:68554257:68558566:68558679 | 68554145:68554257 |
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 |
| exon_skip_40441 | MSBB_STG | 3.869355e-01 | 5.479167e-01 | -1.609812e-01 | 2.409942e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for PPP6R3 |
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 |
| ENST00000393800 | 68537659 | 68537891 | 5CDS-5UTR |
| ENST00000393800 | 68519501 | 68519651 | 5UTR-5UTR |
| ENST00000393800 | 68554145 | 68554257 | Frame-shift |
| ENST00000393800 | 68575958 | 68576043 | Frame-shift |
| ENST00000393800 | 68587927 | 68588024 | Frame-shift |
| ENST00000393800 | 68567014 | 68567166 | In-frame |
| ENST00000393800 | 68583043 | 68583129 | In-frame |
| ENST00000393800 | 68609904 | 68610023 | 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 |
| ENST00000393800 | 68537659 | 68537891 | 5CDS-5UTR |
| ENST00000393800 | 68519501 | 68519651 | 5UTR-5UTR |
| ENST00000393800 | 68554145 | 68554257 | Frame-shift |
| ENST00000393800 | 68575958 | 68576043 | Frame-shift |
| ENST00000393800 | 68587927 | 68588024 | Frame-shift |
| ENST00000393800 | 68591576 | 68591706 | Frame-shift |
| ENST00000393800 | 68567014 | 68567166 | In-frame |
| ENST00000393800 | 68583043 | 68583129 | 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 |
| ENST00000393800 | 68537659 | 68537891 | 5CDS-5UTR |
| ENST00000393800 | 68519501 | 68519651 | 5UTR-5UTR |
| ENST00000393800 | 68554145 | 68554257 | Frame-shift |
| ENST00000393800 | 68564303 | 68564432 | Frame-shift |
| ENST00000393800 | 68575958 | 68576043 | Frame-shift |
| ENST00000393800 | 68587927 | 68588024 | Frame-shift |
| ENST00000393800 | 68591576 | 68591706 | Frame-shift |
| ENST00000393800 | 68551121 | 68551186 | In-frame |
| ENST00000393800 | 68567014 | 68567166 | In-frame |
| ENST00000393800 | 68583043 | 68583129 | In-frame |
| ENST00000393800 | 68609904 | 68610023 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPP6R3 |
p-ENSG00000110075_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 |
| ENST00000393800 | 5110 | 873 | 68567014 | 68567166 | 1231 | 1382 | 325 | 376 |
| ENST00000393800 | 5110 | 873 | 68583043 | 68583129 | 1801 | 1886 | 515 | 544 |
| ENST00000393800 | 5110 | 873 | 68609904 | 68610023 | 2706 | 2824 | 817 | 856 |
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 |
| ENST00000393800 | 5110 | 873 | 68567014 | 68567166 | 1231 | 1382 | 325 | 376 |
| ENST00000393800 | 5110 | 873 | 68583043 | 68583129 | 1801 | 1886 | 515 | 544 |
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 |
| ENST00000393800 | 5110 | 873 | 68551121 | 68551186 | 808 | 872 | 184 | 206 |
| ENST00000393800 | 5110 | 873 | 68567014 | 68567166 | 1231 | 1382 | 325 | 376 |
| ENST00000393800 | 5110 | 873 | 68583043 | 68583129 | 1801 | 1886 | 515 | 544 |
| ENST00000393800 | 5110 | 873 | 68609904 | 68610023 | 2706 | 2824 | 817 | 856 |
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 |
| Q5H9R7 | 325 | 376 | 326 | 376 | Alternative sequence | ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 |
| Q5H9R7 | 325 | 376 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 515 | 544 | 516 | 544 | Alternative sequence | ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 |
| Q5H9R7 | 515 | 544 | 544 | 549 | Alternative sequence | ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5H9R7 | 515 | 544 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 817 | 856 | 817 | 817 | Alternative sequence | ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 |
| Q5H9R7 | 817 | 856 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 817 | 856 | 853 | 853 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q5H9R7 | 817 | 856 | 842 | 842 | Natural variant | ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 |
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 |
| Q5H9R7 | 325 | 376 | 326 | 376 | Alternative sequence | ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 |
| Q5H9R7 | 325 | 376 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 515 | 544 | 516 | 544 | Alternative sequence | ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 |
| Q5H9R7 | 515 | 544 | 544 | 549 | Alternative sequence | ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5H9R7 | 515 | 544 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
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 |
| Q5H9R7 | 184 | 206 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 325 | 376 | 326 | 376 | Alternative sequence | ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 |
| Q5H9R7 | 325 | 376 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 515 | 544 | 516 | 544 | Alternative sequence | ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 |
| Q5H9R7 | 515 | 544 | 544 | 549 | Alternative sequence | ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q5H9R7 | 515 | 544 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 817 | 856 | 817 | 817 | Alternative sequence | ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 |
| Q5H9R7 | 817 | 856 | 1 | 873 | Chain | ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 |
| Q5H9R7 | 817 | 856 | 853 | 853 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q5H9R7 | 817 | 856 | 842 | 842 | Natural variant | ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PPP6R3 |
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 PPP6R3 |
- 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 PPP6R3 |
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 PPP6R3 |
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 PPP6R3 |
Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_194782 | -5.254736e-01 | 1.889832e-11 |
| CB | CNOT4 | exon_skip_194782 | -5.187210e-01 | 3.771041e-11 |
| CB | TRA2A | exon_skip_194782 | -5.209153e-01 | 3.017759e-11 |
| CB | NUP42 | exon_skip_194782 | 4.238540e-01 | 1.471444e-07 |
| CB | SRSF1 | exon_skip_194782 | -4.421500e-01 | 3.611514e-08 |
| CB | PCBP4 | exon_skip_23902 | 5.278546e-01 | 5.429147e-12 |
| CB | FUBP1 | exon_skip_23902 | -4.784909e-01 | 7.702734e-10 |
| CB | RBM45 | exon_skip_23902 | 6.486162e-01 | 4.953054e-19 |
| CB | TRA2A | exon_skip_87175 | -5.270051e-01 | 5.042825e-12 |
| CB | RC3H1 | exon_skip_241676 | -4.026840e-01 | 4.273707e-07 |
| CB | FUBP1 | exon_skip_241676 | -5.097884e-01 | 4.258904e-11 |
| CB | PTBP1 | exon_skip_241676 | -4.654493e-01 | 2.848459e-09 |
| CB | PCBP2 | exon_skip_173569 | 4.350346e-01 | 3.290532e-08 |
| CB | PUM1 | exon_skip_173569 | 4.251518e-01 | 7.199441e-08 |
| CB | RALYL | exon_skip_173569 | 4.250696e-01 | 7.245753e-08 |
| CB | NOVA1 | exon_skip_173569 | 4.185120e-01 | 1.201496e-07 |
| HCC | TARDBP | exon_skip_40441 | -4.012278e-01 | 6.074434e-12 |
| HCC | RBM6 | exon_skip_40441 | -6.348735e-01 | 4.276122e-32 |
| HCC | PCBP4 | exon_skip_40441 | -5.483605e-01 | 9.392834e-23 |
| IFG | TRA2A | exon_skip_100730 | -4.060977e-01 | 3.953965e-02 |
| IFG | NUP42 | exon_skip_289799 | 5.720417e-01 | 1.823502e-03 |
| IFG | IGF2BP3 | exon_skip_87175 | -4.073452e-01 | 3.495182e-02 |
| IFG | KHDRBS2 | exon_skip_87175 | -5.343724e-01 | 4.087612e-03 |
| IFG | HNRNPA0 | exon_skip_87175 | -4.227593e-01 | 2.802365e-02 |
| IFG | RALYL | exon_skip_87175 | -5.025972e-01 | 7.544917e-03 |
| IFG | NOVA1 | exon_skip_87175 | -5.702064e-01 | 1.900863e-03 |
| PCC | ELAVL4 | exon_skip_173569 | 4.155199e-01 | 4.788425e-10 |
| PCC | RBM6 | exon_skip_148971 | -4.490429e-01 | 1.025132e-11 |
| PCC | PCBP4 | exon_skip_148971 | -4.831777e-01 | 1.448152e-13 |
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RelatedDrugs for PPP6R3 |
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 PPP6R3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |