|
||||||
|
 | |
| |
| |
| 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 AKAP13 |
 Gene summary |
| Gene information | Gene symbol | AKAP13 | Gene ID | 11214 |
| Gene name | A-kinase anchoring protein 13 | |
| Synonyms | AKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47 | |
| Cytomap | 15q25.3 | |
| Type of gene | protein-coding | |
| Description | A-kinase anchor protein 13A kinase (PRKA) anchor protein 13LBC oncogenebreast cancer nuclear receptor-binding auxiliary proteinguanine nucleotide exchange factor Lbchuman thyroid-anchoring protein 31lymphoid blast crisis oncogenenon-oncogenic Rho G | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WTD7, A0A087WX73, | |
| Context | - 20067632(High-content siRNA screening of the kinome identifies kinases involved in Alzheimer's disease-related tau hyperphosphorylation) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AKAP13 | GO:0007186 | G protein-coupled receptor signaling pathway | 11546812 |
| AKAP13 | GO:0035025 | positive regulation of Rho protein signal transduction | 11546812 |
Top |
Gene structures and expression levels for AKAP13 |
| 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. |
 |
ENSG00000170776
| 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 | ENST00000394518.6 | AKAP13-203:protein_coding:AKAP13 | 3.583384e+02 | 1.267350e+00 | 1.434647e-07 | 1.998127e-05 |
| CB | DOWN | ENST00000560185.1 | AKAP13-215:lncRNA:AKAP13 | 1.517244e+01 | -1.411369e+00 | 1.825536e-06 | 2.502618e-05 |
| CB | UP | ENST00000560676.5 | AKAP13-222:protein_coding:AKAP13 | 2.483556e+00 | 8.150923e-01 | 1.285545e-02 | 4.262821e-02 |
| TC | UP | ENST00000559486.2 | AKAP13-213:protein_coding:AKAP13 | 4.703167e+00 | 8.723119e-01 | 3.873415e-04 | 4.710143e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AKAP13 |
| 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_112918 | chr15 | 85655417:85655787:85658537:85658590:85662388:85662453 | 85658537:85658590 |
| exon_skip_118635 | chr15 | 85655578:85655787:85658537:85658590:85664563:85664755 | 85658537:85658590 |
| exon_skip_128555 | chr15 | 85655578:85655787:85662388:85662453:85664563:85664755 | 85662388:85662453 |
| exon_skip_164370 | chr15 | 85655578:85655787:85658537:85658590:85662388:85662453 | 85658537:85658590 |
| exon_skip_183159 | chr15 | 85655528:85655787:85658537:85658590:85662388:85662453 | 85658537:85658590 |
| exon_skip_189608 | chr15 | 85655417:85655787:85658537:85658590:85664563:85664755 | 85658537:85658590 |
| exon_skip_196747 | chr15 | 85658537:85658590:85662388:85662453:85664563:85664755 | 85662388:85662453 |
| exon_skip_221227 | chr15 | 85736090:85736134:85740222:85740272:85741046:85741495 | 85740222:85740272 |
| exon_skip_265908 | chr15 | 85655528:85655787:85662388:85662453:85664563:85664755 | 85662388:85662453 |
| exon_skip_269386 | chr15 | 85655417:85655787:85662388:85662453:85664563:85664755 | 85662388:85662453 |
| exon_skip_41525 | chr15 | 85727381:85727463:85730513:85730707:85734992:85735150 | 85730513:85730707 |
| exon_skip_54356 | chr15 | 85655528:85655787:85658537:85658590:85664563:85664755 | 85658537:85658590 |
| exon_skip_79452 | chr15 | 85734992:85735150:85735560:85735630:85736090:85736134 | 85735560:85735630 |
| 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 AKAP13 |
| 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 |
| ENST00000394518 | 85735560 | 85735630 | Frame-shift |
| ENST00000394518 | 85658537 | 85658590 | In-frame |
| ENST00000394518 | 85740222 | 85740272 | 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 |
| ENST00000394518 | 85658537 | 85658590 | 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 |
| ENST00000394518 | 85735560 | 85735630 | Frame-shift |
| ENST00000394518 | 85658537 | 85658590 | In-frame |
| ENST00000394518 | 85730513 | 85730707 | In-frame |
| ENST00000394518 | 85740222 | 85740272 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for AKAP13 |
p-ENSG00000170776_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 |
| ENST00000394518 | 13232 | 2813 | 85658537 | 85658590 | 4842 | 4894 | 1582 | 1599 |
| ENST00000394518 | 13232 | 2813 | 85740222 | 85740272 | 7654 | 7703 | 2519 | 2536 |
| 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 |
| ENST00000394518 | 13232 | 2813 | 85658537 | 85658590 | 4842 | 4894 | 1582 | 1599 |
| 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 |
| ENST00000394518 | 13232 | 2813 | 85658537 | 85658590 | 4842 | 4894 | 1582 | 1599 |
| ENST00000394518 | 13232 | 2813 | 85730513 | 85730707 | 7184 | 7377 | 2363 | 2427 |
| ENST00000394518 | 13232 | 2813 | 85740222 | 85740272 | 7654 | 7703 | 2519 | 2536 |
| 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 |
| Q12802 | 1582 | 1599 | 180 | 2813 | Alternative sequence | ID=VSP_023487;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q12802 | 1582 | 1599 | 1581 | 1598 | Alternative sequence | ID=VSP_023489;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:8290273,ECO:0000303|PubMed:9891067,ECO:0000303|Ref.10;Dbxref=PMID:8290273,PMID:9891067 |
| Q12802 | 1582 | 1599 | 1583 | 1598 | Alternative sequence | ID=VSP_023490;Note=In isoform 2. SMRVLGDVVRRPPIHR->MSWCPSGVQYSAGLSADFNY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11546812;Dbxref=PMID:11546812 |
| Q12802 | 1582 | 1599 | 1 | 2813 | Chain | ID=PRO_0000080963;Note=A-kinase anchor protein 13 |
| Q12802 | 1582 | 1599 | 1585 | 1715 | Region | Note=Important for interaction with MAP2K3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21224381;Dbxref=PMID:21224381 |
| Q12802 | 2519 | 2536 | 180 | 2813 | Alternative sequence | ID=VSP_023487;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q12802 | 2519 | 2536 | 1 | 2813 | Chain | ID=PRO_0000080963;Note=A-kinase anchor protein 13 |
| Q12802 | 2519 | 2536 | 1919 | 2813 | Region | Note=Interaction with ESR1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117 |
| 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 |
| Q12802 | 1582 | 1599 | 180 | 2813 | Alternative sequence | ID=VSP_023487;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q12802 | 1582 | 1599 | 1581 | 1598 | Alternative sequence | ID=VSP_023489;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:8290273,ECO:0000303|PubMed:9891067,ECO:0000303|Ref.10;Dbxref=PMID:8290273,PMID:9891067 |
| Q12802 | 1582 | 1599 | 1583 | 1598 | Alternative sequence | ID=VSP_023490;Note=In isoform 2. SMRVLGDVVRRPPIHR->MSWCPSGVQYSAGLSADFNY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11546812;Dbxref=PMID:11546812 |
| Q12802 | 1582 | 1599 | 1 | 2813 | Chain | ID=PRO_0000080963;Note=A-kinase anchor protein 13 |
| Q12802 | 1582 | 1599 | 1585 | 1715 | Region | Note=Important for interaction with MAP2K3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21224381;Dbxref=PMID:21224381 |
| 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 |
| Q12802 | 1582 | 1599 | 180 | 2813 | Alternative sequence | ID=VSP_023487;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q12802 | 1582 | 1599 | 1581 | 1598 | Alternative sequence | ID=VSP_023489;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:8290273,ECO:0000303|PubMed:9891067,ECO:0000303|Ref.10;Dbxref=PMID:8290273,PMID:9891067 |
| Q12802 | 1582 | 1599 | 1583 | 1598 | Alternative sequence | ID=VSP_023490;Note=In isoform 2. SMRVLGDVVRRPPIHR->MSWCPSGVQYSAGLSADFNY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11546812;Dbxref=PMID:11546812 |
| Q12802 | 1582 | 1599 | 1 | 2813 | Chain | ID=PRO_0000080963;Note=A-kinase anchor protein 13 |
| Q12802 | 1582 | 1599 | 1585 | 1715 | Region | Note=Important for interaction with MAP2K3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21224381;Dbxref=PMID:21224381 |
| Q12802 | 2363 | 2427 | 180 | 2813 | Alternative sequence | ID=VSP_023487;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q12802 | 2363 | 2427 | 1 | 2813 | Chain | ID=PRO_0000080963;Note=A-kinase anchor protein 13 |
| Q12802 | 2363 | 2427 | 2345 | 2381 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q12802 | 2363 | 2427 | 2398 | 2398 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q12802 | 2363 | 2427 | 1919 | 2813 | Region | Note=Interaction with ESR1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117 |
| Q12802 | 2519 | 2536 | 180 | 2813 | Alternative sequence | ID=VSP_023487;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q12802 | 2519 | 2536 | 1 | 2813 | Chain | ID=PRO_0000080963;Note=A-kinase anchor protein 13 |
| Q12802 | 2519 | 2536 | 1919 | 2813 | Region | Note=Interaction with ESR1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in AKAP13 |
| 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 AKAP13 |
| - 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 AKAP13 |
| 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 AKAP13 |
| 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 AKAP13 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | ESRP1 | exon_skip_69086 | -4.279475e-01 | 4.693878e-02 |
Top |
RelatedDrugs for AKAP13 |
| 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 AKAP13 |
| 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)
|