|
||||||
|
 | |
| |
| |
| 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 CAV2 |
 Gene summary |
| Gene information | Gene symbol | CAV2 | Gene ID | 858 |
| Gene name | caveolin 2 | |
| Synonyms | CAV | |
| Cytomap | 7q31.2 | |
| Type of gene | protein-coding | |
| Description | caveolin-2caveolae protein, 20-kDcaveolin 2 isoform a and b | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context | - 17493012(Caveolin-1 and -2 and Their Relationship to Cerebral Amyloid Angiopathy 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 |
| CAV2 | GO:0006906 | vesicle fusion | 12743374 |
| CAV2 | GO:0008286 | insulin receptor signaling pathway | 20455999 |
| CAV2 | GO:0016050 | vesicle organization | 12743374 |
| CAV2 | GO:0043410 | positive regulation of MAPK cascade | 20455999 |
| CAV2 | GO:0043547 | positive regulation of GTPase activity | 8552590 |
| CAV2 | GO:0048278 | vesicle docking | 12743374 |
| CAV2 | GO:0070836 | caveola assembly | 12743374 |
Top |
Gene structures and expression levels for CAV2 |
| 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. |
 |
ENSG00000105971
| 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 | ENST00000495841.1 | CAV2-214:lncRNA:CAV2 | 6.071199e+00 | 9.147330e-01 | 4.573055e-03 | 4.294066e-02 |
| CB | UP | ENST00000495841.1 | CAV2-214:lncRNA:CAV2 | 4.056636e+00 | 1.077965e+00 | 6.329623e-03 | 2.388702e-02 |
| TC | UP | ENST00000343213.2 | CAV2-202:protein_coding:CAV2 | 2.182409e+01 | 1.046023e+00 | 6.366565e-07 | 2.795274e-05 |
| TC | UP | ENST00000495841.1 | CAV2-214:lncRNA:CAV2 | 1.986134e+01 | 9.137192e-01 | 3.082402e-05 | 6.308629e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CAV2 |
| 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_31203 | chr7 | 116499841:116499931:116500260:116500447:116505971:116506029 | 116500260:116500447 |
| 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 CAV2 |
| 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 |
| ENST00000222693 | 116500260 | 116500447 | 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 |
| ENST00000222693 | 116500260 | 116500447 | 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 |
| ENST00000222693 | 116500260 | 116500447 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for CAV2 |
p-ENSG00000105971_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 |
| 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 |
| 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 |
| 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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in CAV2 |
| 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 CAV2 |
| - 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 CAV2 |
| 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 CAV2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_31203 | rs1918923 | chr7:116404512 | 3.068440e-04 | 2.298480e-02 |
| HCC | exon_skip_31203 | rs1918924 | chr7:116404634 | 3.068440e-04 | 2.298480e-02 |
| HCC | exon_skip_31203 | rs10228039 | chr7:116427121 | 3.068440e-04 | 2.298480e-02 |
| HCC | exon_skip_31203 | rs10247800 | chr7:116407136 | 3.081110e-04 | 2.307041e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for CAV2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for CAV2 |
| 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 CAV2 |
| 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)
|