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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 PREX2 |
 Gene summary |
| Gene information | Gene symbol | PREX2 | Gene ID | 80243 |
| Gene name | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 | |
| Synonyms | DEP.2|DEPDC2|P-REX2|PPP1R129 | |
| Cytomap | 8q13.2 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 proteinDEP domain-containing protein 2PtdIns(3,4,5)-dependent Rac exchanger 2protein phosphatase 1, regulatory subunit 129 | |
| Modification date | 20200320 | |
| 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 |
| PREX2 | GO:0007186 | G protein-coupled receptor signaling pathway | 15304343 |
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Gene structures and expression levels for PREX2 |
| 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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ENSG00000046889
| 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 |
| 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 PREX2 |
| 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_103743 | chr8 | 68019549:68019671:68022036:68022140:68027222:68027323 | 68022036:68022140 |
| exon_skip_127234 | chr8 | 68115788:68115932:68118550:68118644:68119432:68119514 | 68118550:68118644 |
| exon_skip_132961 | chr8 | 67952489:67952535:68022036:68022140:68027222:68027323 | 68022036:68022140 |
| exon_skip_149109 | chr8 | 68072495:68072570:68077397:68077469:68080443:68080585 | 68077397:68077469 |
| exon_skip_201041 | chr8 | 68090579:68090715:68093605:68093722:68097017:68097201 | 68093605:68093722 |
| exon_skip_220660 | chr8 | 68120921:68121049:68127378:68127419:68134059:68134276 | 68127378:68127419 |
| exon_skip_224910 | chr8 | 68030497:68030658:68038159:68038292:68044487:68044590 | 68038159:68038292 |
| exon_skip_228139 | chr8 | 68115753:68115932:68118550:68118644:68119432:68119514 | 68118550:68118644 |
| exon_skip_235534 | chr8 | 67952489:67952535:68017846:68017917:68019549:68019671 | 68017846:68017917 |
| exon_skip_280443 | chr8 | 68217616:68217718:68224559:68224626:68231333:68237032 | 68224559:68224626 |
| exon_skip_39799 | chr8 | 68053097:68053246:68055830:68055974:68060679:68060779 | 68055830:68055974 |
| exon_skip_62227 | chr8 | 68118550:68118644:68119432:68119514:68120196:68120286 | 68119432:68119514 |
| exon_skip_63075 | chr8 | 68027222:68027323:68030497:68030658:68038159:68038292 | 68030497:68030658 |
| exon_skip_99024 | chr8 | 68017846:68017917:68019549:68019671:68022036:68022140 | 68019549:68019671 |
| 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 PREX2 |
| 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 |
| ENST00000288368 | 68038159 | 68038292 | Frame-shift |
| ENST00000288368 | 68055830 | 68055974 | Frame-shift |
| ENST00000288368 | 68093605 | 68093722 | Frame-shift |
| ENST00000288368 | 68118550 | 68118644 | Frame-shift |
| ENST00000288368 | 68119432 | 68119514 | Frame-shift |
| ENST00000288368 | 68224559 | 68224626 | Frame-shift |
| ENST00000288368 | 68030497 | 68030658 | In-frame |
| ENST00000288368 | 68127378 | 68127419 | 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 |
| ENST00000288368 | 68038159 | 68038292 | Frame-shift |
| ENST00000288368 | 68093605 | 68093722 | Frame-shift |
| ENST00000288368 | 68119432 | 68119514 | Frame-shift |
| ENST00000288368 | 68019549 | 68019671 | In-frame |
| ENST00000288368 | 68022036 | 68022140 | In-frame |
| ENST00000288368 | 68127378 | 68127419 | 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 |
| ENST00000288368 | 68077397 | 68077469 | Frame-shift |
| ENST00000288368 | 68093605 | 68093722 | Frame-shift |
| ENST00000288368 | 68118550 | 68118644 | Frame-shift |
| ENST00000288368 | 68119432 | 68119514 | Frame-shift |
| ENST00000288368 | 68127378 | 68127419 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PREX2 |
p-ENSG00000046889_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 |
| ENST00000288368 | 10767 | 1606 | 68030497 | 68030658 | 822 | 982 | 181 | 235 |
| ENST00000288368 | 10767 | 1606 | 68127378 | 68127419 | 4003 | 4043 | 1242 | 1255 |
| 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 |
| ENST00000288368 | 10767 | 1606 | 68019549 | 68019671 | 492 | 613 | 71 | 112 |
| ENST00000288368 | 10767 | 1606 | 68022036 | 68022140 | 615 | 718 | 112 | 147 |
| ENST00000288368 | 10767 | 1606 | 68127378 | 68127419 | 4003 | 4043 | 1242 | 1255 |
| 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 |
| ENST00000288368 | 10767 | 1606 | 68127378 | 68127419 | 4003 | 4043 | 1242 | 1255 |
| 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 |
| Q70Z35 | 181 | 235 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
| Q70Z35 | 181 | 235 | 23 | 214 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q70Z35 | 1242 | 1255 | 980 | 1606 | Alternative sequence | ID=VSP_025152;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q70Z35 | 1242 | 1255 | 1050 | 1606 | Alternative sequence | ID=VSP_055614;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 1242 | 1255 | 1242 | 1255 | Alternative sequence | ID=VSP_025157;Note=In isoform 2. EVKCRLLLALLEYS->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q70Z35 | 1242 | 1255 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
| 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 |
| Q70Z35 | 71 | 112 | 48 | 112 | Alternative sequence | ID=VSP_055612;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 71 | 112 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
| Q70Z35 | 71 | 112 | 23 | 214 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q70Z35 | 112 | 147 | 48 | 112 | Alternative sequence | ID=VSP_055612;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 112 | 147 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
| Q70Z35 | 112 | 147 | 23 | 214 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q70Z35 | 1242 | 1255 | 980 | 1606 | Alternative sequence | ID=VSP_025152;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q70Z35 | 1242 | 1255 | 1050 | 1606 | Alternative sequence | ID=VSP_055614;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 1242 | 1255 | 1242 | 1255 | Alternative sequence | ID=VSP_025157;Note=In isoform 2. EVKCRLLLALLEYS->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q70Z35 | 1242 | 1255 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
| 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 |
| Q70Z35 | 1242 | 1255 | 980 | 1606 | Alternative sequence | ID=VSP_025152;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q70Z35 | 1242 | 1255 | 1050 | 1606 | Alternative sequence | ID=VSP_055614;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 1242 | 1255 | 1242 | 1255 | Alternative sequence | ID=VSP_025157;Note=In isoform 2. EVKCRLLLALLEYS->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q70Z35 | 1242 | 1255 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in PREX2 |
| 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 PREX2 |
| - 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 PREX2 |
| 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 PREX2 |
| 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 PREX2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PREX2 |
| 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 PREX2 |
| 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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