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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 PDE1A |
 Gene summary |
| Gene information | Gene symbol | PDE1A | Gene ID | 5136 |
| Gene name | phosphodiesterase 1A | |
| Synonyms | CAM-PDE 1A|CAM-PDE-1A|HCAM-1|HCAM1|HSPDE1A | |
| Cytomap | 2q32.1 | |
| Type of gene | protein-coding | |
| Description | calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A61 kDa Cam-PDEcalcium/calmodulin-stimulated cyclic nucleotide phosphodiesterasephosphodiesterase 1A, calmodulin-dependent | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 24762948(Hidden risk genes with high-order intragenic epistasis in Alzheimer's disease) |
| 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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Gene structures and expression levels for PDE1A |
| 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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ENSG00000115252
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000358139.6 | PDE1A-202:protein_coding:PDE1A | 7.729331e+01 | -1.412515e+00 | 1.545730e-05 | 1.525516e-04 |
| CB | UP | ENST00000482782.5 | PDE1A-208:lncRNA:PDE1A | 2.192356e+00 | 1.016339e+00 | 4.222947e-03 | 1.713072e-02 |
| TC | UP | ENST00000351439.9 | PDE1A-201:protein_coding:PDE1A | 4.138685e+01 | 1.945290e+00 | 3.256598e-15 | 2.666456e-12 |
| TC | DOWN | ENST00000358139.6 | PDE1A-202:protein_coding:PDE1A | 9.373493e+01 | -9.518817e-01 | 1.946195e-03 | 1.644415e-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 PDE1A |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_147295 | chr2 | 182231063:182231131:182234432:182234498:182240110:182240292 | 182234432:182234498 |
| exon_skip_226166 | chr2 | 182234432:182234498:182240110:182240292:182264301:182264414 | 182240110:182240292 |
| exon_skip_246631 | chr2 | 182264301:182264414:182463598:182463659:182522276:182522312 | 182463598:182463659 |
| exon_skip_264779 | chr2 | 182186468:182186588:182188979:182189060:182201439:182201559 | 182188979:182189060 |
| exon_skip_267827 | chr2 | 182201439:182201559:182201688:182201789:182205940:182206065 | 182201688:182201789 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for PDE1A |
| 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 |
| ENST00000410103 | 182188979 | 182189060 | Frame-shift |
| ENST00000410103 | 182234432 | 182234498 | Frame-shift |
| ENST00000410103 | 182240110 | 182240292 | 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 |
| ENST00000410103 | 182234432 | 182234498 | Frame-shift |
| 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 |
| ENST00000410103 | 182234432 | 182234498 | Frame-shift |
| ENST00000410103 | 182201688 | 182201789 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDE1A |
p-ENSG00000115252_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 |
| ENST00000410103 | 2017 | 535 | 182240110 | 182240292 | 300 | 481 | 72 | 132 |
| 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 |
| 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 |
| ENST00000410103 | 2017 | 535 | 182201688 | 182201789 | 1035 | 1135 | 317 | 350 |
| 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 |
| P54750 | 72 | 132 | 1 | 72 | Alternative sequence | ID=VSP_004548;Note=In isoform 3%2C isoform 8 and isoform 9. MGSSATEIEELENTTFKYLTGEQTEKMWQRLKGILRCLVKQLERGDVNVVDLKKNIEYAASVLEAVYIDETR->MGKKINKLFCFNFLVQCFRGKSKPSKCQIRKKVKNHIE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:1548933 |
| P54750 | 72 | 132 | 1 | 535 | Chain | ID=PRO_0000198785;Note=Calcium/calmodulin-dependent 3'%2C5'-cyclic nucleotide phosphodiesterase 1A |
| 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 |
| 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 |
| P54750 | 317 | 350 | 1 | 535 | Chain | ID=PRO_0000198785;Note=Calcium/calmodulin-dependent 3'%2C5'-cyclic nucleotide phosphodiesterase 1A |
| P54750 | 317 | 350 | 142 | 522 | Domain | Note=PDEase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01192 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PDE1A |
| 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 PDE1A |
| - 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 PDE1A |
| 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 PDE1A |
| 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 PDE1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PDE1A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P54750 | approved | DB00201 | Caffeine | small molecule | P54750 |
| P54750 | approved|investigational | DB00622 | Nicardipine | small molecule | P54750 |
| P54750 | approved|investigational | DB01023 | Felodipine | small molecule | P54750 |
| P54750 | approved|withdrawn | DB01244 | Bepridil | small molecule | P54750 |
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RelatedDiseases for PDE1A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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