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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for PREX1 |
Gene summary |
Gene information | Gene symbol | PREX1 | Gene ID | 57580 |
Gene name | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 | |
Synonyms | P-REX1 | |
Cytomap | 20q13.13 | |
Type of gene | protein-coding | |
Description | phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 proteinPIP3 dependent Rac exchange factor 1ptdIns(3,4,5)-dependent Rac exchanger 1 | |
Modification date | 20200313 | |
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 |
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Gene structures and expression levels for PREX1 |
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. |
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 |
PG | UP | ENST00000482556.5 | PREX1-202:nonsense_mediated_decay:PREX1 | 2.387353e+02 | 8.388560e-01 | 3.653270e-05 | 1.301734e-03 |
CB | DOWN | ENST00000482556.5 | PREX1-202:nonsense_mediated_decay:PREX1 | 1.165558e+03 | -1.136209e+00 | 9.165138e-08 | 1.969363e-06 |
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 PREX1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_103069 | chr20 | 48700753:48700886:48708260:48708421:48726290:48726391 | 48708260:48708421 |
exon_skip_169272 | chr20 | 48658136:48658228:48659919:48660061:48666283:48666355 | 48659919:48660061 |
exon_skip_170358 | chr20 | 48676193:48676268:48679360:48679409:48679651:48679754 | 48679360:48679409 |
exon_skip_172685 | chr20 | 48630728:48630794:48632277:48632391:48632496:48632639 | 48632277:48632391 |
exon_skip_195526 | chr20 | 48642407:48642489:48644409:48644497:48645851:48646057 | 48644409:48644497 |
exon_skip_206936 | chr20 | 48708260:48708421:48726290:48726391:48734546:48734650 | 48726290:48726391 |
exon_skip_210302 | chr20 | 48726290:48726391:48734546:48734650:48745025:48745147 | 48734546:48734650 |
exon_skip_21945 | chr20 | 48666283:48666355:48676193:48676268:48679360:48679409 | 48676193:48676268 |
exon_skip_227642 | chr20 | 48636463:48636683:48637711:48637752:48639766:48639894 | 48637711:48637752 |
exon_skip_288657 | chr20 | 48639766:48639894:48642168:48642258:48642407:48642489 | 48642168:48642258 |
exon_skip_78768 | chr20 | 48649996:48650206:48650894:48651055:48651396:48651583 | 48650894:48651055 |
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 PREX1 |
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 |
ENST00000371941 | 48632277 | 48632391 | Frame-shift |
ENST00000371941 | 48642168 | 48642258 | Frame-shift |
ENST00000371941 | 48644409 | 48644497 | Frame-shift |
ENST00000371941 | 48659919 | 48660061 | Frame-shift |
ENST00000371941 | 48679360 | 48679409 | Frame-shift |
ENST00000371941 | 48650894 | 48651055 | In-frame |
ENST00000371941 | 48708260 | 48708421 | In-frame |
ENST00000371941 | 48734546 | 48734650 | 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 |
ENST00000371941 | 48679360 | 48679409 | 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 |
ENST00000371941 | 48642168 | 48642258 | Frame-shift |
ENST00000371941 | 48644409 | 48644497 | Frame-shift |
ENST00000371941 | 48659919 | 48660061 | Frame-shift |
ENST00000371941 | 48676193 | 48676268 | Frame-shift |
ENST00000371941 | 48679360 | 48679409 | Frame-shift |
ENST00000371941 | 48637711 | 48637752 | In-frame |
ENST00000371941 | 48650894 | 48651055 | In-frame |
ENST00000371941 | 48726290 | 48726391 | In-frame |
ENST00000371941 | 48734546 | 48734650 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PREX1 |
p-ENSG00000124126_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 |
ENST00000371941 | 6653 | 1659 | 48734546 | 48734650 | 438 | 541 | 138 | 172 |
ENST00000371941 | 6653 | 1659 | 48708260 | 48708421 | 645 | 805 | 207 | 260 |
ENST00000371941 | 6653 | 1659 | 48650894 | 48651055 | 2679 | 2839 | 885 | 938 |
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 |
ENST00000371941 | 6653 | 1659 | 48734546 | 48734650 | 438 | 541 | 138 | 172 |
ENST00000371941 | 6653 | 1659 | 48726290 | 48726391 | 543 | 643 | 173 | 206 |
ENST00000371941 | 6653 | 1659 | 48650894 | 48651055 | 2679 | 2839 | 885 | 938 |
ENST00000371941 | 6653 | 1659 | 48637711 | 48637752 | 3928 | 3968 | 1301 | 1315 |
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 |
Q8TCU6 | 138 | 172 | 1 | 703 | Alternative sequence | ID=VSP_001818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
Q8TCU6 | 138 | 172 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
Q8TCU6 | 138 | 172 | 49 | 240 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
Q8TCU6 | 138 | 172 | 132 | 138 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 138 | 172 | 139 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 138 | 172 | 144 | 162 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 138 | 172 | 166 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 207 | 260 | 1 | 703 | Alternative sequence | ID=VSP_001818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
Q8TCU6 | 207 | 260 | 257 | 259 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FI0 |
Q8TCU6 | 207 | 260 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
Q8TCU6 | 207 | 260 | 49 | 240 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
Q8TCU6 | 207 | 260 | 202 | 211 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 207 | 260 | 245 | 254 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3X |
Q8TCU6 | 885 | 938 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
Q8TCU6 | 885 | 938 | 910 | 910 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
Q8TCU6 | 138 | 172 | 1 | 703 | Alternative sequence | ID=VSP_001818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
Q8TCU6 | 138 | 172 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
Q8TCU6 | 138 | 172 | 49 | 240 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
Q8TCU6 | 138 | 172 | 132 | 138 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 138 | 172 | 139 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 138 | 172 | 144 | 162 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 138 | 172 | 166 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 173 | 206 | 1 | 703 | Alternative sequence | ID=VSP_001818;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
Q8TCU6 | 173 | 206 | 183 | 185 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FI1 |
Q8TCU6 | 173 | 206 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
Q8TCU6 | 173 | 206 | 49 | 240 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
Q8TCU6 | 173 | 206 | 166 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 173 | 206 | 188 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 173 | 206 | 202 | 211 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YON |
Q8TCU6 | 885 | 938 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
Q8TCU6 | 885 | 938 | 910 | 910 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8TCU6 | 1301 | 1315 | 1 | 1659 | Chain | ID=PRO_0000080965;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 1 protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in PREX1 |
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 PREX1 |
- 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 PREX1 |
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 PREX1 |
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 PREX1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PREX1 |
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 PREX1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |