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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 PDE8A |
 Gene summary |
| Gene information | Gene symbol | PDE8A | Gene ID | 5151 |
| Gene name | phosphodiesterase 8A | |
| Synonyms | HsT19550 | |
| Cytomap | 15q25.3 | |
| Type of gene | protein-coding | |
| Description | high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8AcAMP-specific cyclic nucleotide phosphodiesterase 8A | |
| Modification date | 20180519 | |
| UniProtAcc | O60658 | |
| Context | PubMed: PDE8A [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 |
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Exon skipping events across known transcript of Ensembl for PDE8A 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 PDE8A |
| 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 PDE8A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_124543 | 15 | 85607600:85607657:85610244:85610435:85619092:85619149 | 85610244:85610435 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124544 | 15 | 85607600:85607657:85610244:85610435:85626786:85626875 | 85610244:85610435 | ENSG00000073417.10 | ENST00000559086.1 |
| exon_skip_124547 | 15 | 85619092:85619149:85619963:85620018:85626786:85626875 | 85619963:85620018 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000557819.2,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124549 | 15 | 85619963:85620018:85626786:85626875:85632568:85632647 | 85626786:85626875 | ENSG00000073417.10 | ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000557957.1 |
| exon_skip_124550 | 15 | 85619963:85620018:85626786:85626875:85641178:85641267 | 85626786:85626875 | ENSG00000073417.10 | ENST00000560789.1,ENST00000559742.1 |
| exon_skip_124555 | 15 | 85626786:85626875:85632568:85632647:85634274:85634412 | 85632568:85632647 | ENSG00000073417.10 | ENST00000310298.4,ENST00000394553.1,ENST00000557957.1 |
| exon_skip_124556 | 15 | 85626786:85626875:85632568:85632647:85641178:85641267 | 85632568:85632647 | ENSG00000073417.10 | ENST00000339708.5 |
| exon_skip_124557 | 15 | 85626786:85626875:85634274:85634412:85641178:85641267 | 85634274:85634412 | ENSG00000073417.10 | ENST00000478717.1 |
| exon_skip_124558 | 15 | 85626786:85626875:85641178:85641267:85643245:85643297 | 85641178:85641267 | ENSG00000073417.10 | ENST00000560789.1,ENST00000559742.1 |
| exon_skip_124560 | 15 | 85632568:85632647:85633948:85634146:85634274:85634412 | 85633948:85634146 | ENSG00000073417.10 | ENST00000485596.1 |
| exon_skip_124563 | 15 | 85632568:85632647:85634274:85634412:85641178:85641267 | 85634274:85634412 | ENSG00000073417.10 | ENST00000310298.4,ENST00000394553.1,ENST00000557957.1 |
| exon_skip_124564 | 15 | 85643386:85643429:85652283:85652361:85656607:85656631 | 85652283:85652361 | ENSG00000073417.10 | ENST00000478717.1,ENST00000557954.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000558543.1,ENST00000560789.1,ENST00000557819.2,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124565 | 15 | 85656607:85656678:85657103:85657268:85658669:85658718 | 85657103:85657268 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124568 | 15 | 85658669:85658718:85659214:85659350:85660871:85661063 | 85659214:85659350 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124570 | 15 | 85659280:85659350:85660871:85661070:85664027:85664245 | 85660871:85661070 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124586 | 15 | 85660871:85661070:85664027:85664245:85666291:85666424 | 85664027:85664245 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124593 | 15 | 85664027:85664245:85666291:85666424:85669437:85669605 | 85666291:85666424 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000561024.1,ENST00000557957.1,ENST00000559742.1 |
| exon_skip_124594 | 15 | 85669437:85669605:85679764:85679894:85681027:85681263 | 85679764:85679894 | ENSG00000073417.10 | ENST00000478717.1,ENST00000339708.5,ENST00000310298.4,ENST00000394553.1,ENST00000485596.1,ENST00000560789.1,ENST00000561024.1,ENST00000557957.1,ENST00000559742.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDE8A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_124543 | 15 | 85607600:85607657:85610244:85610435:85619092:85619149 | 85610244:85610435 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124544 | 15 | 85607600:85607657:85610244:85610435:85626786:85626875 | 85610244:85610435 | ENSG00000073417.10 | ENST00000559086.1 |
| exon_skip_124547 | 15 | 85619092:85619149:85619963:85620018:85626786:85626875 | 85619963:85620018 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1,ENST00000557819.2 |
| exon_skip_124549 | 15 | 85619963:85620018:85626786:85626875:85632568:85632647 | 85626786:85626875 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000485596.1 |
| exon_skip_124550 | 15 | 85619963:85620018:85626786:85626875:85641178:85641267 | 85626786:85626875 | ENSG00000073417.10 | ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124555 | 15 | 85626786:85626875:85632568:85632647:85634274:85634412 | 85632568:85632647 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1 |
| exon_skip_124556 | 15 | 85626786:85626875:85632568:85632647:85641178:85641267 | 85632568:85632647 | ENSG00000073417.10 | ENST00000339708.5 |
| exon_skip_124557 | 15 | 85626786:85626875:85634274:85634412:85641178:85641267 | 85634274:85634412 | ENSG00000073417.10 | ENST00000478717.1 |
| exon_skip_124558 | 15 | 85626786:85626875:85641178:85641267:85643245:85643297 | 85641178:85641267 | ENSG00000073417.10 | ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124560 | 15 | 85632568:85632647:85633948:85634146:85634274:85634412 | 85633948:85634146 | ENSG00000073417.10 | ENST00000485596.1 |
| exon_skip_124563 | 15 | 85632568:85632647:85634274:85634412:85641178:85641267 | 85634274:85634412 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1 |
| exon_skip_124564 | 15 | 85643386:85643429:85652283:85652361:85656607:85656631 | 85652283:85652361 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1,ENST00000557819.2,ENST00000558543.1,ENST00000557954.1 |
| exon_skip_124565 | 15 | 85656607:85656678:85657103:85657268:85658669:85658718 | 85657103:85657268 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124568 | 15 | 85658669:85658718:85659214:85659350:85660871:85661063 | 85659214:85659350 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124570 | 15 | 85659280:85659350:85660871:85661070:85664027:85664245 | 85660871:85661070 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124586 | 15 | 85660871:85661070:85664027:85664245:85666291:85666424 | 85664027:85664245 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1 |
| exon_skip_124593 | 15 | 85664027:85664245:85666291:85666424:85669437:85669605 | 85666291:85666424 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1,ENST00000561024.1 |
| exon_skip_124594 | 15 | 85669437:85669605:85679764:85679894:85681027:85681263 | 85679764:85679894 | ENSG00000073417.10 | ENST00000310298.4,ENST00000557957.1,ENST00000394553.1,ENST00000339708.5,ENST00000478717.1,ENST00000485596.1,ENST00000559742.1,ENST00000560789.1,ENST00000561024.1 |
| 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 PDE8A |
| 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 |
| ENST00000310298 | 85610244 | 85610435 | Frame-shift |
| ENST00000394553 | 85610244 | 85610435 | Frame-shift |
| ENST00000310298 | 85619963 | 85620018 | Frame-shift |
| ENST00000394553 | 85619963 | 85620018 | Frame-shift |
| ENST00000310298 | 85626786 | 85626875 | Frame-shift |
| ENST00000394553 | 85626786 | 85626875 | Frame-shift |
| ENST00000310298 | 85632568 | 85632647 | Frame-shift |
| ENST00000394553 | 85632568 | 85632647 | Frame-shift |
| ENST00000310298 | 85659214 | 85659350 | Frame-shift |
| ENST00000394553 | 85659214 | 85659350 | Frame-shift |
| ENST00000310298 | 85660871 | 85661070 | Frame-shift |
| ENST00000394553 | 85660871 | 85661070 | Frame-shift |
| ENST00000310298 | 85664027 | 85664245 | Frame-shift |
| ENST00000394553 | 85664027 | 85664245 | Frame-shift |
| ENST00000310298 | 85666291 | 85666424 | Frame-shift |
| ENST00000394553 | 85666291 | 85666424 | Frame-shift |
| ENST00000310298 | 85679764 | 85679894 | Frame-shift |
| ENST00000394553 | 85679764 | 85679894 | Frame-shift |
| ENST00000310298 | 85634274 | 85634412 | In-frame |
| ENST00000394553 | 85634274 | 85634412 | In-frame |
| ENST00000310298 | 85652283 | 85652361 | In-frame |
| ENST00000394553 | 85652283 | 85652361 | In-frame |
| ENST00000310298 | 85657103 | 85657268 | In-frame |
| ENST00000394553 | 85657103 | 85657268 | 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 |
| ENST00000310298 | 85610244 | 85610435 | Frame-shift |
| ENST00000394553 | 85610244 | 85610435 | Frame-shift |
| ENST00000310298 | 85619963 | 85620018 | Frame-shift |
| ENST00000394553 | 85619963 | 85620018 | Frame-shift |
| ENST00000310298 | 85626786 | 85626875 | Frame-shift |
| ENST00000394553 | 85626786 | 85626875 | Frame-shift |
| ENST00000310298 | 85632568 | 85632647 | Frame-shift |
| ENST00000394553 | 85632568 | 85632647 | Frame-shift |
| ENST00000310298 | 85659214 | 85659350 | Frame-shift |
| ENST00000394553 | 85659214 | 85659350 | Frame-shift |
| ENST00000310298 | 85660871 | 85661070 | Frame-shift |
| ENST00000394553 | 85660871 | 85661070 | Frame-shift |
| ENST00000310298 | 85664027 | 85664245 | Frame-shift |
| ENST00000394553 | 85664027 | 85664245 | Frame-shift |
| ENST00000310298 | 85666291 | 85666424 | Frame-shift |
| ENST00000394553 | 85666291 | 85666424 | Frame-shift |
| ENST00000310298 | 85679764 | 85679894 | Frame-shift |
| ENST00000394553 | 85679764 | 85679894 | Frame-shift |
| ENST00000310298 | 85634274 | 85634412 | In-frame |
| ENST00000394553 | 85634274 | 85634412 | In-frame |
| ENST00000310298 | 85652283 | 85652361 | In-frame |
| ENST00000394553 | 85652283 | 85652361 | In-frame |
| ENST00000310298 | 85657103 | 85657268 | In-frame |
| ENST00000394553 | 85657103 | 85657268 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDE8A |
| 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 |
| ENST00000310298 | 4001 | 829 | 85634274 | 85634412 | 967 | 1104 | 238 | 284 |
| ENST00000394553 | 3929 | 829 | 85634274 | 85634412 | 904 | 1041 | 238 | 284 |
| ENST00000310298 | 4001 | 829 | 85652283 | 85652361 | 1289 | 1366 | 345 | 371 |
| ENST00000394553 | 3929 | 829 | 85652283 | 85652361 | 1226 | 1303 | 345 | 371 |
| ENST00000310298 | 4001 | 829 | 85657103 | 85657268 | 1438 | 1602 | 395 | 450 |
| ENST00000394553 | 3929 | 829 | 85657103 | 85657268 | 1375 | 1539 | 395 | 450 |
| 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 |
| ENST00000310298 | 4001 | 829 | 85634274 | 85634412 | 967 | 1104 | 238 | 284 |
| ENST00000394553 | 3929 | 829 | 85634274 | 85634412 | 904 | 1041 | 238 | 284 |
| ENST00000310298 | 4001 | 829 | 85652283 | 85652361 | 1289 | 1366 | 345 | 371 |
| ENST00000394553 | 3929 | 829 | 85652283 | 85652361 | 1226 | 1303 | 345 | 371 |
| ENST00000310298 | 4001 | 829 | 85657103 | 85657268 | 1438 | 1602 | 395 | 450 |
| ENST00000394553 | 3929 | 829 | 85657103 | 85657268 | 1375 | 1539 | 395 | 450 |
| 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 PDE8A |
| - 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. |
PDE8A_ESCA_exon_skip_124564_psi_boxplot.png |
PDE8A_PAAD_exon_skip_124564_psi_boxplot.png |
PDE8A_STAD_exon_skip_124564_psi_boxplot.png |
| - 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_124543 exon_skip_124544 | 85610245 | 85610435 | 85610267 | 85610267 | Frame_Shift_Del | A | - | p.E89fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_124547 | 85619964 | 85620018 | 85620010 | 85620010 | Frame_Shift_Del | T | - | p.F180fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634360 | 85634360 | Frame_Shift_Del | A | - | p.E267fs |
| STAD | TCGA-BR-4292-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634360 | 85634360 | Frame_Shift_Del | A | - | p.E267fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634360 | 85634360 | Frame_Shift_Del | A | - | p.E267fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634360 | 85634360 | Frame_Shift_Del | A | - | p.E267fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_124558 | 85641179 | 85641267 | 85641209 | 85641209 | Frame_Shift_Del | A | - | p.K295fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_124558 | 85641179 | 85641267 | 85641231 | 85641231 | Frame_Shift_Del | A | - | p.Q302fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_124564 | 85652284 | 85652361 | 85652315 | 85652315 | Frame_Shift_Del | A | - | p.R356fs |
| ESCA | TCGA-LN-A5U6-01 | exon_skip_124564 | 85652284 | 85652361 | 85652346 | 85652346 | Frame_Shift_Del | T | - | p.S367fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_124568 | 85659215 | 85659350 | 85659293 | 85659293 | Frame_Shift_Del | A | - | p.E493fs |
| PRAD | TCGA-EJ-7782-01 | exon_skip_124568 | 85659215 | 85659350 | 85659319 | 85659325 | Frame_Shift_Del | ATTTTTG | - | p.455_457del |
| PRAD | TCGA-EJ-7782-01 | exon_skip_124568 | 85659215 | 85659350 | 85659319 | 85659325 | Frame_Shift_Del | ATTTTTG | - | p.IFE502fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_124568 | 85659215 | 85659350 | 85659320 | 85659320 | Frame_Shift_Del | T | - | p.I502fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_124568 | 85659215 | 85659350 | 85659320 | 85659320 | Frame_Shift_Del | T | - | p.I502fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_124568 | 85659215 | 85659350 | 85659320 | 85659320 | Frame_Shift_Del | T | - | p.I502fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_124568 | 85659215 | 85659350 | 85659320 | 85659320 | Frame_Shift_Del | T | - | p.I502fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_124570 | 85660872 | 85661070 | 85660894 | 85660894 | Frame_Shift_Del | A | - | p.K520fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_124570 | 85660872 | 85661070 | 85660964 | 85660964 | Frame_Shift_Del | A | - | p.Q543fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_124593 | 85666292 | 85666424 | 85666374 | 85666374 | Frame_Shift_Del | A | - | p.K679fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_124593 | 85666292 | 85666424 | 85666398 | 85666398 | Frame_Shift_Del | C | - | p.P687fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_124594 | 85679765 | 85679894 | 85679833 | 85679833 | Frame_Shift_Del | C | - | p.I774fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634393 | 85634393 | Nonsense_Mutation | C | A | p.S278* |
| COAD | TCGA-AA-3510-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634393 | 85634393 | Nonsense_Mutation | C | A | p.S206X |
| STAD | TCGA-BR-6452-01 | exon_skip_124568 | 85659215 | 85659350 | 85659309 | 85659309 | Nonsense_Mutation | G | A | p.W498* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_124593 | 85666292 | 85666424 | 85666344 | 85666344 | Nonsense_Mutation | G | T | p.E669* |
| THYM | TCGA-4X-A9FC-01 | exon_skip_124557 exon_skip_124563 | 85634275 | 85634412 | 85634413 | 85634413 | Splice_Site | G | T | . |
| PAAD | TCGA-IB-7651-01 | exon_skip_124564 | 85652284 | 85652361 | 85652283 | 85652283 | Splice_Site | G | A | . |
| UCEC | TCGA-B5-A11E-01 | exon_skip_124586 | 85664028 | 85664245 | 85664247 | 85664247 | Splice_Site | T | C | e18+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_124564 | |
| Skipped exon start: 85652284 | |
| Skipped exon end: 85652361 | |
| Mutation start: 85652283 | |
| Mutation end: 85652283 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
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exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
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exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.png | |
| - 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 |
| EFO27_OVARY | 85634275 | 85634412 | 85634360 | 85634360 | Frame_Shift_Del | A | - | p.E267fs |
| SKUT1_SOFT_TISSUE | 85634275 | 85634412 | 85634360 | 85634360 | Frame_Shift_Del | A | - | p.E267fs |
| KNS81_CENTRAL_NERVOUS_SYSTEM | 85610245 | 85610435 | 85610302 | 85610303 | Frame_Shift_Ins | - | A | p.E101fs |
| KNS81FD_CENTRAL_NERVOUS_SYSTEM | 85610245 | 85610435 | 85610302 | 85610303 | Frame_Shift_Ins | - | A | p.E101fs |
| HEC151_ENDOMETRIUM | 85610245 | 85610435 | 85610266 | 85610266 | Missense_Mutation | G | A | p.E89K |
| CP50EBV_MATCHED_NORMAL_TISSUE | 85610245 | 85610435 | 85610312 | 85610312 | Missense_Mutation | G | A | p.G104E |
| CP50MELB_SKIN | 85610245 | 85610435 | 85610312 | 85610312 | Missense_Mutation | G | A | p.G104E |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85619964 | 85620018 | 85619986 | 85619986 | Missense_Mutation | G | A | p.V172I |
| NCIBL2052_MATCHED_NORMAL_TISSUE | 85626787 | 85626875 | 85626814 | 85626814 | Missense_Mutation | G | A | p.A192T |
| GP2D_LARGE_INTESTINE | 85634275 | 85634412 | 85634350 | 85634350 | Missense_Mutation | C | T | p.P264S |
| GP5D_LARGE_INTESTINE | 85634275 | 85634412 | 85634350 | 85634350 | Missense_Mutation | C | T | p.P264S |
| OVK18_OVARY | 85634275 | 85634412 | 85634380 | 85634380 | Missense_Mutation | G | A | p.D274N |
| HEC59_ENDOMETRIUM | 85634275 | 85634412 | 85634386 | 85634386 | Missense_Mutation | A | G | p.I276V |
| HCC2108_LUNG | 85641179 | 85641267 | 85641188 | 85641188 | Missense_Mutation | G | A | p.G288R |
| MORCPR_LUNG | 85641179 | 85641267 | 85641188 | 85641188 | Missense_Mutation | G | A | p.G288R |
| MHHNB11_AUTONOMIC_GANGLIA | 85652284 | 85652361 | 85652291 | 85652291 | Missense_Mutation | G | C | p.Q348H |
| HEC59_ENDOMETRIUM | 85652284 | 85652361 | 85652293 | 85652293 | Missense_Mutation | C | T | p.T349I |
| JHUEM1_ENDOMETRIUM | 85652284 | 85652361 | 85652349 | 85652349 | Missense_Mutation | C | T | p.R368C |
| MDAMB361_BREAST | 85657104 | 85657268 | 85657118 | 85657118 | Missense_Mutation | C | G | p.I400M |
| ES4_BONE | 85657104 | 85657268 | 85657159 | 85657159 | Missense_Mutation | C | T | p.A414V |
| RH28_SOFT_TISSUE | 85657104 | 85657268 | 85657168 | 85657168 | Missense_Mutation | G | A | p.R417H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 85657104 | 85657268 | 85657195 | 85657195 | Missense_Mutation | A | C | p.E426A |
| GCT_SOFT_TISSUE | 85659215 | 85659350 | 85659283 | 85659283 | Missense_Mutation | C | T | p.R490W |
| HEC151_ENDOMETRIUM | 85659215 | 85659350 | 85659289 | 85659289 | Missense_Mutation | A | G | p.M492V |
| CAL148_BREAST | 85659215 | 85659350 | 85659344 | 85659344 | Missense_Mutation | A | G | p.H510R |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 85660872 | 85661070 | 85660946 | 85660946 | Missense_Mutation | C | T | p.T537M |
| SNU175_LARGE_INTESTINE | 85660872 | 85661070 | 85661036 | 85661036 | Missense_Mutation | C | T | p.A567V |
| RKO_LARGE_INTESTINE | 85664028 | 85664245 | 85664103 | 85664103 | Missense_Mutation | A | G | p.T604A |
| SNU81_LARGE_INTESTINE | 85664028 | 85664245 | 85664155 | 85664155 | Missense_Mutation | A | G | p.D621G |
| SLR20_KIDNEY | 85666292 | 85666424 | 85666302 | 85666302 | Missense_Mutation | C | T | p.R655W |
| TMK1_STOMACH | 85666292 | 85666424 | 85666311 | 85666311 | Missense_Mutation | C | T | p.R658C |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85666292 | 85666424 | 85666362 | 85666362 | Missense_Mutation | G | A | p.E675K |
| WM88_SKIN | 85666292 | 85666424 | 85666399 | 85666399 | Missense_Mutation | C | T | p.P687L |
| HEC108_ENDOMETRIUM | 85679765 | 85679894 | 85679826 | 85679826 | Missense_Mutation | G | A | p.C772Y |
| TGBC11TKB_STOMACH | 85679765 | 85679894 | 85679873 | 85679873 | Missense_Mutation | G | T | p.D788Y |
| SNU1040_LARGE_INTESTINE | 85679765 | 85679894 | 85679894 | 85679894 | Splice_Site | G | A | p.A795T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDE8A |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDE8A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDE8A |
Top |
RelatedDrugs for PDE8A |
| 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 PDE8A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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