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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 PDE8B |
 Gene summary |
| Gene information | Gene symbol | PDE8B | Gene ID | 8622 |
| Gene name | phosphodiesterase 8B | |
| Synonyms | ADSD|PPNAD3 | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B3',5' cyclic nucleotide phosphodiesterase 8Bcell proliferation-inducing gene 22 protein | |
| Modification date | 20180519 | |
| UniProtAcc | O95263 | |
| Context | PubMed: PDE8B [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 PDE8B 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 PDE8B |
| 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 PDE8B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435841 | 5 | 76506783:76507089:76607818:76607878:76621363:76621554 | 76607818:76607878 | ENSG00000113231.9 | ENST00000340978.3,ENST00000333194.4,ENST00000346042.3,ENST00000505926.1,ENST00000264917.5 |
| exon_skip_435847 | 5 | 76640677:76640756:76645243:76645384:76646889:76646943 | 76645243:76645384 | ENSG00000113231.9 | ENST00000503963.1,ENST00000333194.4,ENST00000342343.4,ENST00000264917.5 |
| exon_skip_435849 | 5 | 76640677:76640756:76696072:76696115:76700544:76700622 | 76696072:76696115 | ENSG00000113231.9 | ENST00000346042.3 |
| exon_skip_435850 | 5 | 76645243:76645384:76646889:76646978:76649170:76649231 | 76646889:76646978 | ENSG00000113231.9 | ENST00000333194.4,ENST00000342343.4,ENST00000264917.5 |
| exon_skip_435853 | 5 | 76649170:76649231:76696072:76696115:76700544:76700622 | 76696072:76696115 | ENSG00000113231.9 | ENST00000340978.3,ENST00000333194.4,ENST00000342343.4,ENST00000264917.5 |
| exon_skip_435857 | 5 | 76703205:76703282:76704717:76704882:76707500:76707546 | 76704717:76704882 | ENSG00000113231.9 | ENST00000340978.3,ENST00000342343.4,ENST00000346042.3,ENST00000264917.5 |
| exon_skip_435859 | 5 | 76707500:76707546:76707924:76708060:76708935:76709134 | 76707924:76708060 | ENSG00000113231.9 | ENST00000340978.3,ENST00000333194.4,ENST00000505283.1,ENST00000342343.4,ENST00000346042.3,ENST00000264917.5 |
| exon_skip_435861 | 5 | 76708935:76709134:76714053:76714271:76715591:76715712 | 76714053:76714271 | ENSG00000113231.9 | ENST00000340978.3,ENST00000333194.4,ENST00000505283.1,ENST00000342343.4,ENST00000346042.3,ENST00000264917.5 |
| exon_skip_435864 | 5 | 76715591:76715712:76717645:76717813:76721591:76721721 | 76717645:76717813 | ENSG00000113231.9 | ENST00000340978.3,ENST00000333194.4,ENST00000505283.1,ENST00000342343.4,ENST00000346042.3,ENST00000264917.5 |
| exon_skip_435865 | 5 | 76717645:76717813:76721591:76721721:76722269:76722458 | 76721591:76721721 | ENSG00000113231.9 | ENST00000340978.3,ENST00000333194.4,ENST00000505283.1,ENST00000342343.4,ENST00000346042.3,ENST00000264917.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDE8B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435841 | 5 | 76506783:76507089:76607818:76607878:76621363:76621554 | 76607818:76607878 | ENSG00000113231.9 | ENST00000505926.1,ENST00000340978.3,ENST00000346042.3,ENST00000264917.5,ENST00000333194.4 |
| exon_skip_435847 | 5 | 76640677:76640756:76645243:76645384:76646889:76646943 | 76645243:76645384 | ENSG00000113231.9 | ENST00000264917.5,ENST00000342343.4,ENST00000333194.4,ENST00000503963.1 |
| exon_skip_435849 | 5 | 76640677:76640756:76696072:76696115:76700544:76700622 | 76696072:76696115 | ENSG00000113231.9 | ENST00000346042.3 |
| exon_skip_435850 | 5 | 76645243:76645384:76646889:76646978:76649170:76649231 | 76646889:76646978 | ENSG00000113231.9 | ENST00000264917.5,ENST00000342343.4,ENST00000333194.4 |
| exon_skip_435853 | 5 | 76649170:76649231:76696072:76696115:76700544:76700622 | 76696072:76696115 | ENSG00000113231.9 | ENST00000340978.3,ENST00000264917.5,ENST00000342343.4,ENST00000333194.4 |
| exon_skip_435857 | 5 | 76703205:76703282:76704717:76704882:76707500:76707546 | 76704717:76704882 | ENSG00000113231.9 | ENST00000340978.3,ENST00000346042.3,ENST00000264917.5,ENST00000342343.4 |
| exon_skip_435859 | 5 | 76707500:76707546:76707924:76708060:76708935:76709134 | 76707924:76708060 | ENSG00000113231.9 | ENST00000340978.3,ENST00000346042.3,ENST00000264917.5,ENST00000342343.4,ENST00000333194.4,ENST00000505283.1 |
| exon_skip_435861 | 5 | 76708935:76709134:76714053:76714271:76715591:76715712 | 76714053:76714271 | ENSG00000113231.9 | ENST00000340978.3,ENST00000346042.3,ENST00000264917.5,ENST00000342343.4,ENST00000333194.4,ENST00000505283.1 |
| exon_skip_435864 | 5 | 76715591:76715712:76717645:76717813:76721591:76721721 | 76717645:76717813 | ENSG00000113231.9 | ENST00000340978.3,ENST00000346042.3,ENST00000264917.5,ENST00000342343.4,ENST00000333194.4,ENST00000505283.1 |
| exon_skip_435865 | 5 | 76717645:76717813:76721591:76721721:76722269:76722458 | 76721591:76721721 | ENSG00000113231.9 | ENST00000340978.3,ENST00000346042.3,ENST00000264917.5,ENST00000342343.4,ENST00000333194.4,ENST00000505283.1 |
| 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 PDE8B |
| 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 |
| ENST00000264917 | 76646889 | 76646978 | Frame-shift |
| ENST00000264917 | 76696072 | 76696115 | Frame-shift |
| ENST00000264917 | 76707924 | 76708060 | Frame-shift |
| ENST00000264917 | 76714053 | 76714271 | Frame-shift |
| ENST00000264917 | 76721591 | 76721721 | Frame-shift |
| ENST00000264917 | 76607818 | 76607878 | In-frame |
| ENST00000264917 | 76645243 | 76645384 | In-frame |
| ENST00000264917 | 76704717 | 76704882 | In-frame |
| ENST00000264917 | 76717645 | 76717813 | 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 |
| ENST00000264917 | 76646889 | 76646978 | Frame-shift |
| ENST00000264917 | 76696072 | 76696115 | Frame-shift |
| ENST00000264917 | 76707924 | 76708060 | Frame-shift |
| ENST00000264917 | 76714053 | 76714271 | Frame-shift |
| ENST00000264917 | 76721591 | 76721721 | Frame-shift |
| ENST00000264917 | 76607818 | 76607878 | In-frame |
| ENST00000264917 | 76645243 | 76645384 | In-frame |
| ENST00000264917 | 76704717 | 76704882 | In-frame |
| ENST00000264917 | 76717645 | 76717813 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDE8B |
| 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 |
| ENST00000264917 | 5973 | 885 | 76607818 | 76607878 | 385 | 444 | 113 | 133 |
| ENST00000264917 | 5973 | 885 | 76645243 | 76645384 | 922 | 1062 | 292 | 339 |
| ENST00000264917 | 5973 | 885 | 76704717 | 76704882 | 1411 | 1575 | 455 | 510 |
| ENST00000264917 | 5973 | 885 | 76717645 | 76717813 | 2296 | 2463 | 750 | 806 |
| 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 |
| ENST00000264917 | 5973 | 885 | 76607818 | 76607878 | 385 | 444 | 113 | 133 |
| ENST00000264917 | 5973 | 885 | 76645243 | 76645384 | 922 | 1062 | 292 | 339 |
| ENST00000264917 | 5973 | 885 | 76704717 | 76704882 | 1411 | 1575 | 455 | 510 |
| ENST00000264917 | 5973 | 885 | 76717645 | 76717813 | 2296 | 2463 | 750 | 806 |
| 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 |
| O95263 | 113 | 133 | 1 | 535 | Alternative sequence | ID=VSP_008081;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| O95263 | 113 | 133 | 114 | 133 | Alternative sequence | ID=VSP_008082;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12681444;Dbxref=PMID:12681444 |
| O95263 | 113 | 133 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 292 | 339 | 1 | 535 | Alternative sequence | ID=VSP_008081;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| O95263 | 292 | 339 | 293 | 389 | Alternative sequence | ID=VSP_008084;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12372422,ECO:0000303|PubMed:12681444;Dbxref=PMID:12372422,PMID:12681444 |
| O95263 | 292 | 339 | 293 | 339 | Alternative sequence | ID=VSP_008083;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12372422;Dbxref=PMID:12372422 |
| O95263 | 292 | 339 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 292 | 339 | 267 | 338 | Domain | Note=PAS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140 |
| O95263 | 292 | 339 | 305 | 305 | Natural variant | ID=VAR_066503;Note=In PPNAD3%3B shows significantly higher cyclic AMP levels after transfection with the mutant protein than after transfection with the wild-type%2C indicating an impaired ability of the mutant protein to degrade cAMP. H->P;Ontology_term= |
| O95263 | 455 | 510 | 1 | 535 | Alternative sequence | ID=VSP_008081;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| O95263 | 455 | 510 | 456 | 510 | Alternative sequence | ID=VSP_008085;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12681444;Dbxref=PMID:12681444 |
| O95263 | 455 | 510 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 750 | 806 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 750 | 806 | 539 | 875 | Domain | Note=PDEase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01192 |
| O95263 | 750 | 806 | 781 | 781 | Metal binding | Note=Divalent metal cation 1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O60658 |
| O95263 | 750 | 806 | 754 | 754 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q4S1 |
| 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 |
| O95263 | 113 | 133 | 1 | 535 | Alternative sequence | ID=VSP_008081;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| O95263 | 113 | 133 | 114 | 133 | Alternative sequence | ID=VSP_008082;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12681444;Dbxref=PMID:12681444 |
| O95263 | 113 | 133 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 292 | 339 | 1 | 535 | Alternative sequence | ID=VSP_008081;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| O95263 | 292 | 339 | 293 | 389 | Alternative sequence | ID=VSP_008084;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12372422,ECO:0000303|PubMed:12681444;Dbxref=PMID:12372422,PMID:12681444 |
| O95263 | 292 | 339 | 293 | 339 | Alternative sequence | ID=VSP_008083;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12372422;Dbxref=PMID:12372422 |
| O95263 | 292 | 339 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 292 | 339 | 267 | 338 | Domain | Note=PAS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140 |
| O95263 | 292 | 339 | 305 | 305 | Natural variant | ID=VAR_066503;Note=In PPNAD3%3B shows significantly higher cyclic AMP levels after transfection with the mutant protein than after transfection with the wild-type%2C indicating an impaired ability of the mutant protein to degrade cAMP. H->P;Ontology_term= |
| O95263 | 455 | 510 | 1 | 535 | Alternative sequence | ID=VSP_008081;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 |
| O95263 | 455 | 510 | 456 | 510 | Alternative sequence | ID=VSP_008085;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12681444;Dbxref=PMID:12681444 |
| O95263 | 455 | 510 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 750 | 806 | 1 | 885 | Chain | ID=PRO_0000198840;Note=High affinity cAMP-specific and IBMX-insensitive 3'%2C5'-cyclic phosphodiesterase 8B |
| O95263 | 750 | 806 | 539 | 875 | Domain | Note=PDEase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01192 |
| O95263 | 750 | 806 | 781 | 781 | Metal binding | Note=Divalent metal cation 1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O60658 |
| O95263 | 750 | 806 | 754 | 754 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q4S1 |
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SNVs in the skipped exons for PDE8B |
| - 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-BC-A3KG-01 | exon_skip_435859 | 76707925 | 76708060 | 76708032 | 76708032 | Frame_Shift_Del | T | - | p.F562fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_435859 | 76707925 | 76708060 | 76708056 | 76708056 | Frame_Shift_Del | A | - | p.K570fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_435861 | 76714054 | 76714271 | 76714253 | 76714253 | Frame_Shift_Del | T | - | p.I704fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_435847 | 76645244 | 76645384 | 76645304 | 76645304 | Nonsense_Mutation | G | T | p.E313* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_435847 | 76645244 | 76645384 | 76645304 | 76645304 | Nonsense_Mutation | G | T | p.E313X |
| ESCA | TCGA-LN-A4A4-01 | exon_skip_435857 | 76704718 | 76704882 | 76704797 | 76704797 | Nonsense_Mutation | T | A | p.L482X |
| UCEC | TCGA-BG-A0MO-01 | exon_skip_435857 | 76704718 | 76704882 | 76704797 | 76704797 | Nonsense_Mutation | T | G | p.L482* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_435864 | 76717646 | 76717813 | 76717775 | 76717775 | Nonsense_Mutation | G | T | p.E794* |
| HNSC | TCGA-CN-5356-01 | exon_skip_435841 | 76607819 | 76607878 | 76607880 | 76607880 | Splice_Site | T | A | p.Q133_splice |
| LUAD | TCGA-05-4410-01 | exon_skip_435865 | 76721592 | 76721721 | 76721722 | 76721722 | Splice_Site | G | T | p.A850_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 |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 76646890 | 76646978 | 76646898 | 76646898 | Frame_Shift_Del | G | - | p.Q342fs |
| HEC108_ENDOMETRIUM | 76607819 | 76607878 | 76607832 | 76607832 | Missense_Mutation | C | T | p.A118V |
| HEC251_ENDOMETRIUM | 76607819 | 76607878 | 76607832 | 76607832 | Missense_Mutation | C | T | p.A118V |
| HCC2998_LARGE_INTESTINE | 76645244 | 76645384 | 76645262 | 76645262 | Missense_Mutation | G | A | p.E299K |
| HUH6_LIVER | 76645244 | 76645384 | 76645287 | 76645287 | Missense_Mutation | G | T | p.G307V |
| HUH6CLONE5_LIVER | 76645244 | 76645384 | 76645287 | 76645287 | Missense_Mutation | G | T | p.G307V |
| SNU81_LARGE_INTESTINE | 76645244 | 76645384 | 76645336 | 76645336 | Missense_Mutation | C | A | p.N323K |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76645244 | 76645384 | 76645358 | 76645358 | Missense_Mutation | A | C | p.I331L |
| NCIH2342_LUNG | 76646890 | 76646978 | 76646896 | 76646896 | Missense_Mutation | C | A | p.Q342K |
| COLO794_SKIN | 76646890 | 76646978 | 76646899 | 76646900 | Missense_Mutation | GG | AA | p.G343K |
| COLO800_SKIN | 76646890 | 76646978 | 76646899 | 76646900 | Missense_Mutation | GG | AA | p.G343K |
| SNU407_LARGE_INTESTINE | 76646890 | 76646978 | 76646911 | 76646911 | Missense_Mutation | G | A | p.A347T |
| HEC59_ENDOMETRIUM | 76646890 | 76646978 | 76646926 | 76646926 | Missense_Mutation | G | A | p.G352R |
| EN_ENDOMETRIUM | 76646890 | 76646978 | 76646942 | 76646942 | Missense_Mutation | A | G | p.Q357R |
| HEC6_ENDOMETRIUM | 76696073 | 76696115 | 76696088 | 76696088 | Missense_Mutation | C | T | p.R395C |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76714054 | 76714271 | 76714066 | 76714066 | Missense_Mutation | C | A | p.Q642K |
| NCIH2135_LUNG | 76714054 | 76714271 | 76714189 | 76714189 | Missense_Mutation | G | C | p.V683L |
| HCT15_LARGE_INTESTINE | 76714054 | 76714271 | 76714213 | 76714213 | Missense_Mutation | C | A | p.L691M |
| WM35_SKIN | 76714054 | 76714271 | 76714217 | 76714217 | Missense_Mutation | C | T | p.A692V |
| NB5_AUTONOMIC_GANGLIA | 76714054 | 76714271 | 76714260 | 76714260 | Missense_Mutation | G | T | p.K706N |
| NB7_AUTONOMIC_GANGLIA | 76714054 | 76714271 | 76714260 | 76714260 | Missense_Mutation | G | T | p.K706N |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76717646 | 76717813 | 76717755 | 76717755 | Missense_Mutation | G | A | p.R787H |
| CAL39_VULVA | 76721592 | 76721721 | 76721598 | 76721598 | Missense_Mutation | G | A | p.E809K |
| HEC251_ENDOMETRIUM | 76707925 | 76708060 | 76708035 | 76708035 | Nonsense_Mutation | G | T | p.E563* |
| NCIH838_LUNG | 76707925 | 76708060 | 76708060 | 76708060 | Splice_Site | G | A | p.R571K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDE8B |
| 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 PDE8B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDE8B |
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RelatedDrugs for PDE8B |
| 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 PDE8B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PDE8B | C0001627 | Congenital adrenal hyperplasia | 1 | CTD_human |
| PDE8B | C0004782 | Basal Ganglia Diseases | 1 | CTD_human |
| PDE8B | C0013362 | Dysarthria | 1 | CTD_human;HPO |
| PDE8B | C0026837 | Muscle Rigidity | 1 | CTD_human;HPO |
| PDE8B | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
| PDE8B | C3280094 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 | 1 | UNIPROT |
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