|
||||||
|
 | |
| |
| |
| 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 RABEP2 |
 Gene summary |
| Gene information | Gene symbol | RABEP2 | Gene ID | 79874 |
| Gene name | rabaptin, RAB GTPase binding effector protein 2 | |
| Synonyms | FRA | |
| Cytomap | 16p11.2 | |
| Type of gene | protein-coding | |
| Description | rab GTPase-binding effector protein 2Rabaptin-5 betarabaptin-5beta | |
| 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 |
Top |
Gene structures and expression levels for RABEP2 |
| 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. |
 |
ENSG00000177548
| 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. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RABEP2 |
| 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_185154 | chr16 | 28908609:28908764:28910888:28910986:28914236:28914586 | 28910888:28910986 |
| exon_skip_203793 | chr16 | 28919786:28919943:28924403:28924615:28925103:28925177 | 28924403:28924615 |
| exon_skip_206788 | chr16 | 28919929:28919943:28921063:28921213:28924403:28924615 | 28921063:28921213 |
| exon_skip_21279 | chr16 | 28905397:28905513:28905704:28905759:28905867:28905878 | 28905704:28905759 |
| exon_skip_218243 | chr16 | 28919786:28919943:28921063:28921213:28924403:28924682 | 28921063:28921213 |
| exon_skip_242423 | chr16 | 28910888:28910986:28911084:28911179:28914236:28914584 | 28911084:28911179 |
| exon_skip_249156 | chr16 | 28910888:28910986:28911084:28911179:28914236:28914586 | 28911084:28911179 |
| exon_skip_272350 | chr16 | 28919929:28919943:28924403:28924615:28925103:28925177 | 28924403:28924615 |
| exon_skip_281120 | chr16 | 28906019:28906196:28908609:28908764:28910888:28910986 | 28908609:28908764 |
| exon_skip_2897 | chr16 | 28919786:28919943:28921063:28921213:28924403:28924615 | 28921063:28921213 |
| exon_skip_5668 | chr16 | 28905704:28905759:28905867:28905878:28906019:28906196 | 28905867:28905878 |
| exon_skip_75266 | chr16 | 28904828:28905044:28905397:28905513:28905704:28905759 | 28905397:28905513 |
| 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 RABEP2 |
| 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 |
| ENST00000358201 | 28905704 | 28905759 | Frame-shift |
| ENST00000358201 | 28911084 | 28911179 | In-frame |
| ENST00000358201 | 28924403 | 28924615 | 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 |
| ENST00000358201 | 28924403 | 28924615 | 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 |
| ENST00000358201 | 28905704 | 28905759 | Frame-shift |
| ENST00000358201 | 28905397 | 28905513 | In-frame |
| ENST00000358201 | 28905867 | 28905878 | In-frame |
| ENST00000358201 | 28908609 | 28908764 | In-frame |
| ENST00000358201 | 28911084 | 28911179 | In-frame |
| ENST00000358201 | 28924403 | 28924615 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for RABEP2 |
p-ENSG00000177548_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 |
| ENST00000358201 | 2838 | 569 | 28924403 | 28924615 | 651 | 862 | 20 | 91 |
| ENST00000358201 | 2838 | 569 | 28911084 | 28911179 | 1484 | 1578 | 298 | 329 |
| 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 |
| ENST00000358201 | 2838 | 569 | 28924403 | 28924615 | 651 | 862 | 20 | 91 |
| 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 |
| ENST00000358201 | 2838 | 569 | 28924403 | 28924615 | 651 | 862 | 20 | 91 |
| ENST00000358201 | 2838 | 569 | 28911084 | 28911179 | 1484 | 1578 | 298 | 329 |
| ENST00000358201 | 2838 | 569 | 28908609 | 28908764 | 1679 | 1833 | 363 | 414 |
| ENST00000358201 | 2838 | 569 | 28905397 | 28905513 | 2081 | 2196 | 497 | 535 |
| 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 |
| Q9H5N1 | 20 | 91 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 20 | 91 | 34 | 187 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 298 | 329 | 299 | 330 | Alternative sequence | ID=VSP_010458;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H5N1 | 298 | 329 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 298 | 329 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9H5N1 | 20 | 91 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 20 | 91 | 34 | 187 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9H5N1 | 20 | 91 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 20 | 91 | 34 | 187 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 298 | 329 | 299 | 330 | Alternative sequence | ID=VSP_010458;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H5N1 | 298 | 329 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 298 | 329 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 363 | 414 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 363 | 414 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 497 | 535 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 497 | 535 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in RABEP2 |
| 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 RABEP2 |
| - 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 RABEP2 |
| 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 RABEP2 |
| 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 RABEP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for RABEP2 |
| 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 RABEP2 |
| 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)
|