|
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 EXOC2 |
Gene summary |
Gene information | Gene symbol | EXOC2 | Gene ID | 55770 |
Gene name | exocyst complex component 2 | |
Synonyms | SEC5|SEC5L1|Sec5p | |
Cytomap | 6p25.3 | |
Type of gene | protein-coding | |
Description | exocyst complex component 2SEC5-like 1exocyst complex component Sec5 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 26949549(A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A 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 |
Top |
Gene structures and expression levels for EXOC2 |
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 |
TC | UP | ENST00000443083.5 | EXOC2-202:protein_coding:EXOC2 | 9.175720e-01 | 9.991827e-01 | 7.676613e-03 | 4.606169e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EXOC2 |
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_119152 | chr6 | 679143:679514:689139:689212:693019:693108 | 689139:689212 |
exon_skip_139835 | chr6 | 617711:617835:619430:619543:629835:629961 | 619430:619543 |
exon_skip_204800 | chr6 | 598021:598123:598860:598941:599080:599225 | 598860:598941 |
exon_skip_205127 | chr6 | 497367:497489:499645:499700:532469:532610 | 499645:499700 |
exon_skip_33385 | chr6 | 555954:556013:556484:556564:562784:562845 | 556484:556564 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EXOC2 |
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 |
ENST00000230449 | 598860 | 598941 | Frame-shift |
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 |
ENST00000230449 | 598860 | 598941 | Frame-shift |
ENST00000230449 | 619430 | 619543 | 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 |
ENST00000230449 | 499645 | 499700 | Frame-shift |
ENST00000230449 | 598860 | 598941 | Frame-shift |
ENST00000230449 | 556484 | 556564 | In-frame |
ENST00000230449 | 619430 | 619543 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EXOC2 |
p-ENSG00000112685_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 |
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 |
ENST00000230449 | 4466 | 924 | 619430 | 619543 | 559 | 671 | 141 | 178 |
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 |
ENST00000230449 | 4466 | 924 | 619430 | 619543 | 559 | 671 | 141 | 178 |
ENST00000230449 | 4466 | 924 | 556484 | 556564 | 1988 | 2067 | 617 | 643 |
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 |
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 |
Q96KP1 | 141 | 178 | 1 | 924 | Chain | ID=PRO_0000118918;Note=Exocyst complex component 2 |
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 |
Q96KP1 | 141 | 178 | 1 | 924 | Chain | ID=PRO_0000118918;Note=Exocyst complex component 2 |
Q96KP1 | 617 | 643 | 1 | 924 | Chain | ID=PRO_0000118918;Note=Exocyst complex component 2 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in EXOC2 |
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 |
Top |
SNVs in the skipped exons for EXOC2 |
- 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 |
Top |
AD stage-associated exon skippint events for EXOC2 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXOC2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for EXOC2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for EXOC2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for EXOC2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |