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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 EXOC1 |
 Gene summary |
| Gene information | Gene symbol | EXOC1 | Gene ID | 55763 |
| Gene name | exocyst complex component 1 | |
| Synonyms | BM-102|SEC3|SEC3L1|SEC3P | |
| Cytomap | 4q12 | |
| Type of gene | protein-coding | |
| Description | exocyst complex component 1SEC3-like 1exocyst complex component Sec3 | |
| 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 |
| EXOC1 | GO:0048015 | phosphatidylinositol-mediated signaling | 25591774 |
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Gene structures and expression levels for EXOC1 |
| 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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ENSG00000090989
| 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 EXOC1 |
| 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_121020 | chr4 | 55890223:55890386:55891315:55891422:55892635:55892711 | 55891315:55891422 |
| exon_skip_130908 | chr4 | 55892635:55892711:55893552:55893780:55896717:55896900 | 55893552:55893780 |
| exon_skip_180367 | chr4 | 55896717:55896900:55899685:55899884:55902344:55902426 | 55899685:55899884 |
| exon_skip_190905 | chr4 | 55896717:55896900:55899685:55899884:55902344:55902538 | 55899685:55899884 |
| exon_skip_228021 | chr4 | 55883823:55883928:55888888:55888932:55890223:55890386 | 55888888:55888932 |
| exon_skip_240243 | chr4 | 55896802:55896900:55899685:55899884:55902344:55902538 | 55899685:55899884 |
| exon_skip_250478 | chr4 | 55891315:55891422:55892635:55892711:55893552:55893627 | 55892635:55892711 |
| exon_skip_274587 | chr4 | 55891396:55891422:55892635:55892711:55893552:55893627 | 55892635:55892711 |
| exon_skip_8784 | chr4 | 55858339:55858447:55860411:55860541:55864227:55864386 | 55860411:55860541 |
| exon_skip_95805 | chr4 | 55871101:55871233:55871849:55871958:55877917:55878066 | 55871849:55871958 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_160402 | MSBB_PG | 4.057364e-01 | 5.645455e-01 | -1.588090e-01 | 3.370978e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for EXOC1 |
| 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 |
| ENST00000346134 | 55871849 | 55871958 | Frame-shift |
| ENST00000381295 | 55871849 | 55871958 | Frame-shift |
| ENST00000346134 | 55892635 | 55892711 | Frame-shift |
| ENST00000381295 | 55892635 | 55892711 | Frame-shift |
| ENST00000346134 | 55893552 | 55893780 | Frame-shift |
| ENST00000381295 | 55893552 | 55893780 | Frame-shift |
| ENST00000346134 | 55899685 | 55899884 | Frame-shift |
| ENST00000381295 | 55899685 | 55899884 | Frame-shift |
| ENST00000346134 | 55888888 | 55888932 | In-frame |
| ENST00000381295 | 55888888 | 55888932 | In-frame |
| ENST00000346134 | 55891315 | 55891422 | In-frame |
| ENST00000381295 | 55891315 | 55891422 | 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 |
| ENST00000346134 | 55899685 | 55899884 | Frame-shift |
| ENST00000381295 | 55899685 | 55899884 | Frame-shift |
| ENST00000346134 | 55888888 | 55888932 | In-frame |
| ENST00000381295 | 55888888 | 55888932 | In-frame |
| ENST00000346134 | 55891315 | 55891422 | In-frame |
| ENST00000381295 | 55891315 | 55891422 | 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 |
| ENST00000346134 | 55860411 | 55860541 | Frame-shift |
| ENST00000381295 | 55860411 | 55860541 | Frame-shift |
| ENST00000346134 | 55871849 | 55871958 | Frame-shift |
| ENST00000381295 | 55871849 | 55871958 | Frame-shift |
| ENST00000346134 | 55892635 | 55892711 | Frame-shift |
| ENST00000381295 | 55892635 | 55892711 | Frame-shift |
| ENST00000346134 | 55893552 | 55893780 | Frame-shift |
| ENST00000381295 | 55893552 | 55893780 | Frame-shift |
| ENST00000346134 | 55899685 | 55899884 | Frame-shift |
| ENST00000381295 | 55899685 | 55899884 | Frame-shift |
| ENST00000346134 | 55888888 | 55888932 | In-frame |
| ENST00000381295 | 55888888 | 55888932 | In-frame |
| ENST00000346134 | 55891315 | 55891422 | In-frame |
| ENST00000381295 | 55891315 | 55891422 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EXOC1 |
p-ENSG00000090989_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 |
| ENST00000346134 | 3374 | 894 | 55888888 | 55888932 | 1465 | 1508 | 444 | 458 |
| ENST00000381295 | 3568 | 894 | 55888888 | 55888932 | 1680 | 1723 | 444 | 458 |
| ENST00000346134 | 3374 | 894 | 55891315 | 55891422 | 1674 | 1780 | 513 | 549 |
| ENST00000381295 | 3568 | 894 | 55891315 | 55891422 | 1889 | 1995 | 513 | 549 |
| 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 |
| ENST00000346134 | 3374 | 894 | 55888888 | 55888932 | 1465 | 1508 | 444 | 458 |
| ENST00000381295 | 3568 | 894 | 55888888 | 55888932 | 1680 | 1723 | 444 | 458 |
| ENST00000346134 | 3374 | 894 | 55891315 | 55891422 | 1674 | 1780 | 513 | 549 |
| ENST00000381295 | 3568 | 894 | 55891315 | 55891422 | 1889 | 1995 | 513 | 549 |
| 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 |
| ENST00000346134 | 3374 | 894 | 55888888 | 55888932 | 1465 | 1508 | 444 | 458 |
| ENST00000381295 | 3568 | 894 | 55888888 | 55888932 | 1680 | 1723 | 444 | 458 |
| ENST00000346134 | 3374 | 894 | 55891315 | 55891422 | 1674 | 1780 | 513 | 549 |
| ENST00000381295 | 3568 | 894 | 55891315 | 55891422 | 1889 | 1995 | 513 | 549 |
| 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 |
| Q9NV70 | 444 | 458 | 444 | 459 | Alternative sequence | ID=VSP_001481;Note=In isoform 2. ATLPRKESAVKQETES->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334 |
| Q9NV70 | 444 | 458 | 444 | 459 | Alternative sequence | ID=VSP_001481;Note=In isoform 2. ATLPRKESAVKQETES->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334 |
| Q9NV70 | 444 | 458 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 444 | 458 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 513 | 549 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 513 | 549 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| 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 |
| Q9NV70 | 444 | 458 | 444 | 459 | Alternative sequence | ID=VSP_001481;Note=In isoform 2. ATLPRKESAVKQETES->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334 |
| Q9NV70 | 444 | 458 | 444 | 459 | Alternative sequence | ID=VSP_001481;Note=In isoform 2. ATLPRKESAVKQETES->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334 |
| Q9NV70 | 444 | 458 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 444 | 458 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 513 | 549 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 513 | 549 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| 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 |
| Q9NV70 | 444 | 458 | 444 | 459 | Alternative sequence | ID=VSP_001481;Note=In isoform 2. ATLPRKESAVKQETES->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334 |
| Q9NV70 | 444 | 458 | 444 | 459 | Alternative sequence | ID=VSP_001481;Note=In isoform 2. ATLPRKESAVKQETES->G;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:11042152,PMID:14702039,PMID:15489334 |
| Q9NV70 | 444 | 458 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 444 | 458 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 513 | 549 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
| Q9NV70 | 513 | 549 | 2 | 894 | Chain | ID=PRO_0000118913;Note=Exocyst complex component 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EXOC1 |
| 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 EXOC1 |
| - 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 EXOC1 |
| 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 EXOC1 |
| 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 EXOC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_121020 | -4.635405e-01 | 8.600380e-10 |
| CB | RC3H1 | exon_skip_121020 | -4.323106e-01 | 1.409912e-08 |
| CB | RBM6 | exon_skip_240243 | -4.428469e-01 | 5.061446e-09 |
| CB | TRA2A | exon_skip_240243 | -5.153539e-01 | 3.631901e-12 |
| CB | HNRNPDL | exon_skip_240243 | 4.707888e-01 | 3.792547e-10 |
| CB | NUP42 | exon_skip_240243 | 4.096813e-01 | 8.213115e-08 |
| IFG | PABPN1L | exon_skip_228021 | 5.579448e-01 | 2.493944e-03 |
| IFG | PABPC5 | exon_skip_228021 | 4.179954e-01 | 3.003452e-02 |
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RelatedDrugs for EXOC1 |
| 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 EXOC1 |
| 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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