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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180520 | |
| UniProtAcc | Q5H9R7 | |
| Context | PubMed: PPP6R3 [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 |
| PPP6R3 | GO:0043666 | regulation of phosphoprotein phosphatase activity | 16716191 |
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Exon skipping events across known transcript of Ensembl for PPP6R3 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. |
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Gene isoform structures and expression levels for PPP6R3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PPP6R3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_62356 | 11 | 68228280:68228295:68272612:68272717:68286968:68287119 | 68272612:68272717 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265636.5,ENST00000530427.1 |
| exon_skip_62358 | 11 | 68228280:68228295:68272612:68272739:68282495:68282634 | 68272612:68272739 | ENSG00000110075.10 | ENST00000528635.1 |
| exon_skip_62359 | 11 | 68228280:68228295:68272612:68272739:68286968:68287119 | 68272612:68272739 | ENSG00000110075.10 | ENST00000529907.1 |
| exon_skip_62361 | 11 | 68228280:68228295:68282495:68282634:68286968:68287119 | 68282495:68282634 | ENSG00000110075.10 | ENST00000529344.1 |
| exon_skip_62362 | 11 | 68228280:68228295:68286968:68287119:68305126:68305137 | 68286968:68287119 | ENSG00000110075.10 | ENST00000524904.1,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3 |
| exon_skip_62363 | 11 | 68228280:68228295:68286968:68287119:68312305:68312492 | 68286968:68287119 | ENSG00000110075.10 | ENST00000534534.1 |
| exon_skip_62365 | 11 | 68228280:68228295:68305126:68305359:68312305:68312492 | 68305126:68305359 | ENSG00000110075.10 | ENST00000265637.4 |
| exon_skip_62384 | 11 | 68272612:68272717:68286968:68287119:68305126:68305137 | 68286968:68287119 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265636.5 |
| exon_skip_62385 | 11 | 68272612:68272739:68282495:68282634:68286968:68287119 | 68282495:68282634 | ENSG00000110075.10 | ENST00000528635.1 |
| exon_skip_62387 | 11 | 68287102:68287119:68289961:68290157:68305126:68305137 | 68289961:68290157 | ENSG00000110075.10 | ENST00000533127.1,ENST00000530427.1 |
| exon_skip_62390 | 11 | 68287102:68287119:68305126:68305359:68312305:68312492 | 68305126:68305359 | ENSG00000110075.10 | ENST00000529710.1,ENST00000524904.1,ENST00000265636.5,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62394 | 11 | 68287102:68287119:68312305:68312492:68315534:68315656 | 68312305:68312492 | ENSG00000110075.10 | ENST00000529907.1,ENST00000527069.1,ENST00000534534.1,ENST00000525050.1 |
| exon_skip_62413 | 11 | 68305283:68305359:68312305:68312492:68315534:68315672 | 68312305:68312492 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265637.4,ENST00000524904.1,ENST00000531244.1,ENST00000265636.5,ENST00000529172.1,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62418 | 11 | 68312305:68312492:68315534:68315672:68318588:68318595 | 68315534:68315672 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265637.4,ENST00000524904.1,ENST00000531244.1,ENST00000529907.1,ENST00000265636.5,ENST00000529172.1,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2,ENST00000525050.1 |
| exon_skip_62430 | 11 | 68315534:68315672:68318588:68318654:68321612:68321688 | 68318588:68318654 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265637.4,ENST00000524904.1,ENST00000529907.1,ENST00000265636.5,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62442 | 11 | 68315534:68315672:68334481:68334634:68337215:68337365 | 68334481:68334634 | ENSG00000110075.10 | ENST00000534534.1 |
| exon_skip_62445 | 11 | 68318588:68318654:68321612:68321725:68326033:68326147 | 68321612:68321725 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265637.4,ENST00000524904.1,ENST00000265636.5,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62458 | 11 | 68321612:68321725:68326033:68326147:68331770:68331875 | 68326033:68326147 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265637.4,ENST00000524904.1,ENST00000265636.5,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62460 | 11 | 68326109:68326147:68331770:68331900:68334481:68334634 | 68331770:68331900 | ENSG00000110075.10 | ENST00000265637.4,ENST00000524904.1,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62461 | 11 | 68326109:68326147:68331770:68331900:68337215:68337365 | 68331770:68331900 | ENSG00000110075.10 | ENST00000529710.1,ENST00000265636.5 |
| exon_skip_62463 | 11 | 68331891:68331900:68334466:68334634:68337215:68337365 | 68334466:68334634 | ENSG00000110075.10 | ENST00000534190.1 |
| exon_skip_62464 | 11 | 68331891:68331900:68334481:68334634:68337215:68337365 | 68334481:68334634 | ENSG00000110075.10 | ENST00000265637.4,ENST00000526574.1,ENST00000524904.1,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000393799.2,ENST00000527403.2 |
| exon_skip_62466 | 11 | 68341576:68341692:68343425:68343511:68350510:68350597 | 68343425:68343511 | ENSG00000110075.10 | ENST00000525421.1,ENST00000524904.1,ENST00000393800.2,ENST00000393801.3,ENST00000534534.1,ENST00000393799.2 |
| exon_skip_62476 | 11 | 68343425:68343511:68350510:68350597:68355265:68355492 | 68350510:68350597 | ENSG00000110075.10 | ENST00000525421.1 |
| exon_skip_62481 | 11 | 68343425:68343511:68350510:68350597:68355394:68355492 | 68350510:68350597 | ENSG00000110075.10 | ENST00000393800.2,ENST00000393801.3,ENST00000534534.1,ENST00000393799.2 |
| exon_skip_62482 | 11 | 68343425:68343511:68350510:68350597:68355412:68355492 | 68350510:68350597 | ENSG00000110075.10 | ENST00000524904.1 |
| exon_skip_62490 | 11 | 68343425:68343511:68355394:68355492:68358127:68358182 | 68355394:68355492 | ENSG00000110075.10 | ENST00000529710.1,ENST00000534190.1,ENST00000265636.5,ENST00000524845.1 |
| exon_skip_62491 | 11 | 68343425:68343511:68355412:68355492:68358127:68358182 | 68355412:68355492 | ENSG00000110075.10 | ENST00000527403.2 |
| exon_skip_62492 | 11 | 68343425:68343511:68355445:68355492:68358127:68358182 | 68355445:68355492 | ENSG00000110075.10 | ENST00000265637.4 |
| exon_skip_62498 | 11 | 68350510:68350597:68355265:68355492:68358127:68358182 | 68355265:68355492 | ENSG00000110075.10 | ENST00000525421.1 |
| exon_skip_62503 | 11 | 68350510:68350597:68355394:68355492:68358127:68358182 | 68355394:68355492 | ENSG00000110075.10 | ENST00000393800.2,ENST00000393801.3,ENST00000534534.1,ENST00000393799.2 |
| exon_skip_62504 | 11 | 68350510:68350597:68355412:68355492:68358127:68358182 | 68355412:68355492 | ENSG00000110075.10 | ENST00000524904.1 |
| exon_skip_62506 | 11 | 68358127:68358182:68359043:68359174:68363564:68363686 | 68359043:68359174 | ENSG00000110075.10 | ENST00000529710.1,ENST00000525421.1,ENST00000265637.4,ENST00000524904.1,ENST00000534190.1,ENST00000265636.5,ENST00000524845.1,ENST00000393800.2,ENST00000393801.3,ENST00000534534.1,ENST00000393799.2,ENST00000526307.1,ENST00000527403.2 |
| exon_skip_62511 | 11 | 68370815:68370960:68376940:68377096:68377371:68377491 | 68376940:68377096 | ENSG00000110075.10 | ENST00000526593.1 |
| exon_skip_62514 | 11 | 68370815:68370960:68377078:68377096:68377371:68377491 | 68377078:68377096 | ENSG00000110075.10 | ENST00000393801.3,ENST00000526307.1 |
| exon_skip_62520 | 11 | 68370815:68370960:68377371:68377491:68380533:68380585 | 68377371:68377491 | ENSG00000110075.10 | ENST00000265637.4,ENST00000524904.1,ENST00000534190.1,ENST00000265636.5,ENST00000524845.1,ENST00000393800.2,ENST00000534534.1,ENST00000527403.2 |
| exon_skip_62521 | 11 | 68370809:68370960:68377371:68377491:68382099:68382720 | 68377371:68377491 | ENSG00000110075.10 | ENST00000529710.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPP6R3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_62356 | 11 | 68228280:68228295:68272612:68272717:68286968:68287119 | 68272612:68272717 | ENSG00000110075.10 | ENST00000530427.1,ENST00000265636.5,ENST00000529710.1 |
| exon_skip_62358 | 11 | 68228280:68228295:68272612:68272739:68282495:68282634 | 68272612:68272739 | ENSG00000110075.10 | ENST00000528635.1 |
| exon_skip_62359 | 11 | 68228280:68228295:68272612:68272739:68286968:68287119 | 68272612:68272739 | ENSG00000110075.10 | ENST00000529907.1 |
| exon_skip_62361 | 11 | 68228280:68228295:68282495:68282634:68286968:68287119 | 68282495:68282634 | ENSG00000110075.10 | ENST00000529344.1 |
| exon_skip_62362 | 11 | 68228280:68228295:68286968:68287119:68305126:68305137 | 68286968:68287119 | ENSG00000110075.10 | ENST00000393800.2,ENST00000524845.1,ENST00000524904.1,ENST00000393801.3 |
| exon_skip_62363 | 11 | 68228280:68228295:68286968:68287119:68312305:68312492 | 68286968:68287119 | ENSG00000110075.10 | ENST00000534534.1 |
| exon_skip_62365 | 11 | 68228280:68228295:68305126:68305359:68312305:68312492 | 68305126:68305359 | ENSG00000110075.10 | ENST00000265637.4 |
| exon_skip_62385 | 11 | 68272612:68272739:68282495:68282634:68286968:68287119 | 68282495:68282634 | ENSG00000110075.10 | ENST00000528635.1 |
| exon_skip_62387 | 11 | 68287102:68287119:68289961:68290157:68305126:68305137 | 68289961:68290157 | ENSG00000110075.10 | ENST00000530427.1,ENST00000533127.1 |
| exon_skip_62390 | 11 | 68287102:68287119:68305126:68305359:68312305:68312492 | 68305126:68305359 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000524845.1,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2 |
| exon_skip_62394 | 11 | 68287102:68287119:68312305:68312492:68315534:68315656 | 68312305:68312492 | ENSG00000110075.10 | ENST00000529907.1,ENST00000534534.1,ENST00000525050.1,ENST00000527069.1 |
| exon_skip_62413 | 11 | 68305283:68305359:68312305:68312492:68315534:68315672 | 68312305:68312492 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2,ENST00000531244.1,ENST00000529172.1 |
| exon_skip_62418 | 11 | 68312305:68312492:68315534:68315672:68318588:68318595 | 68315534:68315672 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000529907.1,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2,ENST00000525050.1,ENST00000531244.1,ENST00000529172.1 |
| exon_skip_62430 | 11 | 68315534:68315672:68318588:68318654:68321612:68321688 | 68318588:68318654 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000529907.1,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2 |
| exon_skip_62442 | 11 | 68315534:68315672:68334481:68334634:68337215:68337365 | 68334481:68334634 | ENSG00000110075.10 | ENST00000534534.1 |
| exon_skip_62445 | 11 | 68318588:68318654:68321612:68321725:68326033:68326147 | 68321612:68321725 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2 |
| exon_skip_62458 | 11 | 68321612:68321725:68326033:68326147:68331770:68331875 | 68326033:68326147 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2 |
| exon_skip_62460 | 11 | 68326109:68326147:68331770:68331900:68334481:68334634 | 68331770:68331900 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000527403.2 |
| exon_skip_62461 | 11 | 68326109:68326147:68331770:68331900:68337215:68337365 | 68331770:68331900 | ENSG00000110075.10 | ENST00000265636.5,ENST00000529710.1 |
| exon_skip_62463 | 11 | 68331891:68331900:68334466:68334634:68337215:68337365 | 68334466:68334634 | ENSG00000110075.10 | ENST00000534190.1 |
| exon_skip_62464 | 11 | 68331891:68331900:68334481:68334634:68337215:68337365 | 68334481:68334634 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000527403.2,ENST00000526574.1 |
| exon_skip_62466 | 11 | 68341576:68341692:68343425:68343511:68350510:68350597 | 68343425:68343511 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000534534.1,ENST00000524904.1,ENST00000393801.3,ENST00000525421.1 |
| exon_skip_62476 | 11 | 68343425:68343511:68350510:68350597:68355265:68355492 | 68350510:68350597 | ENSG00000110075.10 | ENST00000525421.1 |
| exon_skip_62481 | 11 | 68343425:68343511:68350510:68350597:68355394:68355492 | 68350510:68350597 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000534534.1,ENST00000393801.3 |
| exon_skip_62482 | 11 | 68343425:68343511:68350510:68350597:68355412:68355492 | 68350510:68350597 | ENSG00000110075.10 | ENST00000524904.1 |
| exon_skip_62490 | 11 | 68343425:68343511:68355394:68355492:68358127:68358182 | 68355394:68355492 | ENSG00000110075.10 | ENST00000524845.1,ENST00000265636.5,ENST00000529710.1,ENST00000534190.1 |
| exon_skip_62491 | 11 | 68343425:68343511:68355412:68355492:68358127:68358182 | 68355412:68355492 | ENSG00000110075.10 | ENST00000527403.2 |
| exon_skip_62492 | 11 | 68343425:68343511:68355445:68355492:68358127:68358182 | 68355445:68355492 | ENSG00000110075.10 | ENST00000265637.4 |
| exon_skip_62498 | 11 | 68350510:68350597:68355265:68355492:68358127:68358182 | 68355265:68355492 | ENSG00000110075.10 | ENST00000525421.1 |
| exon_skip_62503 | 11 | 68350510:68350597:68355394:68355492:68358127:68358182 | 68355394:68355492 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000534534.1,ENST00000393801.3 |
| exon_skip_62504 | 11 | 68350510:68350597:68355412:68355492:68358127:68358182 | 68355412:68355492 | ENSG00000110075.10 | ENST00000524904.1 |
| exon_skip_62506 | 11 | 68358127:68358182:68359043:68359174:68363564:68363686 | 68359043:68359174 | ENSG00000110075.10 | ENST00000393799.2,ENST00000393800.2,ENST00000534534.1,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000393801.3,ENST00000265636.5,ENST00000529710.1,ENST00000527403.2,ENST00000534190.1,ENST00000525421.1,ENST00000526307.1 |
| exon_skip_62511 | 11 | 68370815:68370960:68376940:68377096:68377371:68377491 | 68376940:68377096 | ENSG00000110075.10 | ENST00000526593.1 |
| exon_skip_62514 | 11 | 68370815:68370960:68377078:68377096:68377371:68377491 | 68377078:68377096 | ENSG00000110075.10 | ENST00000393801.3,ENST00000526307.1 |
| exon_skip_62520 | 11 | 68370815:68370960:68377371:68377491:68380533:68380585 | 68377371:68377491 | ENSG00000110075.10 | ENST00000393800.2,ENST00000534534.1,ENST00000524845.1,ENST00000265637.4,ENST00000524904.1,ENST00000265636.5,ENST00000527403.2,ENST00000534190.1 |
| exon_skip_62521 | 11 | 68370809:68370960:68377371:68377491:68382099:68382720 | 68377371:68377491 | ENSG00000110075.10 | ENST00000529710.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000393800 | 68305126 | 68305359 | 5CDS-5UTR |
| ENST00000393800 | 68286968 | 68287119 | 5UTR-5UTR |
| ENST00000393800 | 68312305 | 68312492 | Frame-shift |
| ENST00000393800 | 68321612 | 68321725 | Frame-shift |
| ENST00000393800 | 68331770 | 68331900 | Frame-shift |
| ENST00000393800 | 68343425 | 68343511 | Frame-shift |
| ENST00000393800 | 68355394 | 68355492 | Frame-shift |
| ENST00000393800 | 68359043 | 68359174 | Frame-shift |
| ENST00000393800 | 68315534 | 68315672 | In-frame |
| ENST00000393800 | 68318588 | 68318654 | In-frame |
| ENST00000393800 | 68326033 | 68326147 | In-frame |
| ENST00000393800 | 68334481 | 68334634 | In-frame |
| ENST00000393800 | 68350510 | 68350597 | In-frame |
| ENST00000393800 | 68377371 | 68377491 | 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 |
| ENST00000393800 | 68305126 | 68305359 | 5CDS-5UTR |
| ENST00000393800 | 68286968 | 68287119 | 5UTR-5UTR |
| ENST00000393800 | 68312305 | 68312492 | Frame-shift |
| ENST00000393800 | 68321612 | 68321725 | Frame-shift |
| ENST00000393800 | 68331770 | 68331900 | Frame-shift |
| ENST00000393800 | 68343425 | 68343511 | Frame-shift |
| ENST00000393800 | 68355394 | 68355492 | Frame-shift |
| ENST00000393800 | 68359043 | 68359174 | Frame-shift |
| ENST00000393800 | 68315534 | 68315672 | In-frame |
| ENST00000393800 | 68318588 | 68318654 | In-frame |
| ENST00000393800 | 68326033 | 68326147 | In-frame |
| ENST00000393800 | 68334481 | 68334634 | In-frame |
| ENST00000393800 | 68350510 | 68350597 | In-frame |
| ENST00000393800 | 68377371 | 68377491 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPP6R3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000393800 | 5110 | 873 | 68315534 | 68315672 | 669 | 806 | 138 | 184 |
| ENST00000393800 | 5110 | 873 | 68318588 | 68318654 | 807 | 872 | 184 | 206 |
| ENST00000393800 | 5110 | 873 | 68326033 | 68326147 | 986 | 1099 | 244 | 281 |
| ENST00000393800 | 5110 | 873 | 68334481 | 68334634 | 1230 | 1382 | 325 | 376 |
| ENST00000393800 | 5110 | 873 | 68350510 | 68350597 | 1800 | 1886 | 515 | 544 |
| ENST00000393800 | 5110 | 873 | 68377371 | 68377491 | 2705 | 2824 | 817 | 856 |
| 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 |
| ENST00000393800 | 5110 | 873 | 68315534 | 68315672 | 669 | 806 | 138 | 184 |
| ENST00000393800 | 5110 | 873 | 68318588 | 68318654 | 807 | 872 | 184 | 206 |
| ENST00000393800 | 5110 | 873 | 68326033 | 68326147 | 986 | 1099 | 244 | 281 |
| ENST00000393800 | 5110 | 873 | 68334481 | 68334634 | 1230 | 1382 | 325 | 376 |
| ENST00000393800 | 5110 | 873 | 68350510 | 68350597 | 1800 | 1886 | 515 | 544 |
| ENST00000393800 | 5110 | 873 | 68377371 | 68377491 | 2705 | 2824 | 817 | 856 |
| 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 |
| 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 |
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SNVs in the skipped exons for PPP6R3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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_62394 exon_skip_62413 | 68312306 | 68312492 | 68312444 | 68312444 | Frame_Shift_Del | T | - | p.S122fs |
| KIRP | TCGA-DW-5560-01 | exon_skip_62430 | 68318589 | 68318654 | 68318634 | 68318637 | Frame_Shift_Del | CATC | - | p.199_200del |
| KIRP | TCGA-DW-5560-01 | exon_skip_62430 | 68318589 | 68318654 | 68318634 | 68318637 | Frame_Shift_Del | CATC | - | p.H200fs |
| KIRP | TCGA-DW-5560-01 | exon_skip_62430 | 68318589 | 68318654 | 68318634 | 68318637 | Frame_Shift_Del | CATC | - | p.HP200fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_62445 | 68321613 | 68321725 | 68321697 | 68321697 | Frame_Shift_Del | C | - | p.P235fs |
| THCA | TCGA-IM-A3U2-01 | exon_skip_62460 exon_skip_62461 | 68331771 | 68331900 | 68331877 | 68331877 | Frame_Shift_Del | G | - | p.E318fs |
| THCA | TCGA-IM-A3U2-01 | exon_skip_62460 exon_skip_62461 | 68331771 | 68331900 | 68331877 | 68331877 | Frame_Shift_Del | G | - | p.H317fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_62460 exon_skip_62461 | 68331771 | 68331900 | 68331895 | 68331895 | Frame_Shift_Del | C | - | p.P324fs |
| COAD | TCGA-AD-5900-01 | exon_skip_62464 exon_skip_62442 exon_skip_62463 | 68334467 | 68334634 | 68334504 | 68334504 | Frame_Shift_Del | G | - | p.W333fs |
| COAD | TCGA-AD-5900-01 | exon_skip_62464 exon_skip_62442 exon_skip_62463 | 68334482 | 68334634 | 68334504 | 68334504 | Frame_Shift_Del | G | - | p.W333fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_62466 | 68343426 | 68343511 | 68343484 | 68343487 | Frame_Shift_Del | AACT | - | p.506_507del |
| BLCA | TCGA-FD-A3SJ-01 | exon_skip_62460 exon_skip_62461 | 68331771 | 68331900 | 68331787 | 68331788 | Frame_Shift_Ins | - | A | p.E288fs |
| COAD | TCGA-CA-6717-01 | exon_skip_62390 exon_skip_62365 | 68305127 | 68305359 | 68305184 | 68305184 | Nonsense_Mutation | G | T | p.E18X |
| LUAD | TCGA-97-A4M0-01 | exon_skip_62390 exon_skip_62365 | 68305127 | 68305359 | 68305259 | 68305259 | Nonsense_Mutation | A | T | p.K43* |
| HNSC | TCGA-D6-A6EP-01 | exon_skip_62394 exon_skip_62413 | 68312306 | 68312492 | 68312325 | 68312325 | Nonsense_Mutation | G | T | p.E83* |
| READ | TCGA-EI-6882-01 | exon_skip_62445 | 68321613 | 68321725 | 68321613 | 68321613 | Nonsense_Mutation | C | T | p.R207X |
| COAD | TCGA-A6-5665-01 | exon_skip_62458 | 68326034 | 68326147 | 68326038 | 68326038 | Nonsense_Mutation | G | T | p.E246X |
| HNSC | TCGA-F7-A50J-01 | exon_skip_62458 | 68326034 | 68326147 | 68326137 | 68326137 | Nonsense_Mutation | C | T | p.R279* |
| LUAD | TCGA-44-2662-01 | exon_skip_62458 | 68326034 | 68326147 | 68326137 | 68326137 | Nonsense_Mutation | C | T | p.R279* |
| READ | TCGA-AG-3575-01 | exon_skip_62466 | 68343426 | 68343511 | 68343449 | 68343449 | Nonsense_Mutation | C | T | p.R495X |
| GBM | TCGA-12-0692-01 | exon_skip_62418 | 68315535 | 68315672 | 68315674 | 68315674 | Splice_Site | T | G | p.N184_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 |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68321613 | 68321725 | 68321646 | 68321647 | Frame_Shift_Ins | - | T | p.I218fs |
| DV90_LUNG | 68377372 | 68377491 | 68377471 | 68377473 | In_Frame_Del | CAG | - | p.S853del |
| GP2D_LARGE_INTESTINE | 68305127 | 68305359 | 68305158 | 68305158 | Missense_Mutation | C | T | p.S9L |
| GP5D_LARGE_INTESTINE | 68305127 | 68305359 | 68305158 | 68305158 | Missense_Mutation | C | T | p.S9L |
| NCIH1155_LUNG | 68305127 | 68305359 | 68305257 | 68305257 | Missense_Mutation | G | A | p.R42H |
| RH28_SOFT_TISSUE | 68305127 | 68305359 | 68305334 | 68305334 | Missense_Mutation | G | C | p.D68H |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68305127 | 68305359 | 68305354 | 68305354 | Missense_Mutation | A | T | p.R74S |
| K029AX_SKIN | 68315535 | 68315672 | 68315664 | 68315664 | Missense_Mutation | G | A | p.V182M |
| ISTSL1_LUNG | 68318589 | 68318654 | 68318637 | 68318637 | Missense_Mutation | C | G | p.P201A |
| JHOS2_OVARY | 68321613 | 68321725 | 68321619 | 68321619 | Missense_Mutation | T | G | p.S209A |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68321613 | 68321725 | 68321652 | 68321652 | Missense_Mutation | C | T | p.R220C |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68321613 | 68321725 | 68321652 | 68321652 | Missense_Mutation | C | T | p.R220C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 68321613 | 68321725 | 68321679 | 68321679 | Missense_Mutation | A | G | p.I229V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68321613 | 68321725 | 68321679 | 68321679 | Missense_Mutation | A | G | p.I229V |
| MM386_SKIN | 68326034 | 68326147 | 68326129 | 68326129 | Missense_Mutation | T | C | p.L276P |
| BT474_BREAST | 68326034 | 68326147 | 68326131 | 68326131 | Missense_Mutation | G | C | p.E277Q |
| SUM159PT_BREAST | 68334482 | 68334634 | 68334531 | 68334531 | Missense_Mutation | A | G | p.N342S |
| SUM159PT_BREAST | 68334467 | 68334634 | 68334531 | 68334531 | Missense_Mutation | A | G | p.N342S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68334482 | 68334634 | 68334537 | 68334537 | Missense_Mutation | G | A | p.R344Q |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68334467 | 68334634 | 68334537 | 68334537 | Missense_Mutation | G | A | p.R344Q |
| SNUC5_LARGE_INTESTINE | 68334482 | 68334634 | 68334581 | 68334581 | Missense_Mutation | A | G | p.T359A |
| SNUC5_LARGE_INTESTINE | 68334467 | 68334634 | 68334581 | 68334581 | Missense_Mutation | A | G | p.T359A |
| OC316_OVARY | 68343426 | 68343511 | 68343453 | 68343453 | Missense_Mutation | G | T | p.W496L |
| OC314_OVARY | 68343426 | 68343511 | 68343453 | 68343453 | Missense_Mutation | G | T | p.W496L |
| OVK18_OVARY | 68343426 | 68343511 | 68343459 | 68343459 | Missense_Mutation | C | T | p.T498M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68350511 | 68350597 | 68350564 | 68350564 | Missense_Mutation | A | C | p.E533D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 68350511 | 68350597 | 68350564 | 68350564 | Missense_Mutation | A | C | p.E533D |
| HEC251_ENDOMETRIUM | 68350511 | 68350597 | 68350587 | 68350587 | Missense_Mutation | C | A | p.S541Y |
| HEC251_ENDOMETRIUM | 68355446 | 68355492 | 68355456 | 68355456 | Missense_Mutation | A | T | p.N565I |
| HEC251_ENDOMETRIUM | 68355413 | 68355492 | 68355456 | 68355456 | Missense_Mutation | A | T | p.N565I |
| HEC251_ENDOMETRIUM | 68355395 | 68355492 | 68355456 | 68355456 | Missense_Mutation | A | T | p.N565I |
| HEC251_ENDOMETRIUM | 68355266 | 68355492 | 68355456 | 68355456 | Missense_Mutation | A | T | p.N565I |
| AM38_CENTRAL_NERVOUS_SYSTEM | 68359044 | 68359174 | 68359081 | 68359081 | Missense_Mutation | G | T | p.R608I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 68377372 | 68377491 | 68377380 | 68377380 | Missense_Mutation | G | A | p.G820E |
| MKN45_STOMACH | 68377372 | 68377491 | 68377436 | 68377436 | Missense_Mutation | A | G | p.T839A |
| A1207_CENTRAL_NERVOUS_SYSTEM | 68377372 | 68377491 | 68377453 | 68377453 | Missense_Mutation | C | G | p.C844W |
| HCT15_LARGE_INTESTINE | 68377372 | 68377491 | 68377454 | 68377454 | Missense_Mutation | G | A | p.A845T |
| 2313287_STOMACH | 68377372 | 68377491 | 68377455 | 68377455 | Missense_Mutation | C | T | p.A845V |
| SNU81_LARGE_INTESTINE | 68326034 | 68326147 | 68326140 | 68326140 | Nonsense_Mutation | C | T | p.R280* |
| 22RV1_PROSTATE | 68343426 | 68343511 | 68343449 | 68343449 | Nonsense_Mutation | C | T | p.R495* |
| LOVO_LARGE_INTESTINE | 68343426 | 68343511 | 68343449 | 68343449 | Nonsense_Mutation | C | T | p.R495* |
| CW2_LARGE_INTESTINE | 68359044 | 68359174 | 68359167 | 68359167 | Nonsense_Mutation | C | T | p.R637* |
| LU135_LUNG | 68377372 | 68377491 | 68377487 | 68377487 | Nonsense_Mutation | C | T | p.Q856* |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68343426 | 68343511 | 68343510 | 68343510 | Splice_Site | T | C | p.L515P |
| MEWO_SKIN | 68355395 | 68355492 | 68355396 | 68355396 | Splice_Site | C | T | p.A545V |
| MEWO_SKIN | 68355266 | 68355492 | 68355396 | 68355396 | Splice_Site | C | T | p.A545V |
| MEWO_SKIN | 68355395 | 68355492 | 68355396 | 68355397 | Splice_Site | CC | TT | p.A545V |
| MEWO_SKIN | 68355266 | 68355492 | 68355396 | 68355397 | Splice_Site | CC | TT | p.A545V |
| 2313287_STOMACH | 68377372 | 68377491 | 68377372 | 68377372 | Splice_Site | T | C | p.S817S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP6R3 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP6R3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP6R3 |
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RelatedDrugs for PPP6R3 |
| 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 |
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RelatedDiseases for PPP6R3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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