|
||||||
|
 | |
| |
| |
| 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 RRAGB |
 Gene summary |
| Gene information | Gene symbol | RRAGB | Gene ID | 10325 |
| Gene name | Ras related GTP binding B | |
| Synonyms | RAGB|bA465E19.1 | |
| Cytomap | Xp11.21 | |
| Type of gene | protein-coding | |
| Description | ras-related GTP-binding protein BGTP-binding protein ragBrag B | |
| Modification date | 20200313 | |
| UniProtAcc | Q5VZM0, Q5VZM2, | |
| 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 RRAGB |
| 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. |
 |
ENSG00000083750
| 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 RRAGB |
| 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_165585 | chrX | 55753434:55753514:55755841:55755932:55757216:55757331 | 55755841:55755932 |
| exon_skip_18046 | chrX | 55731401:55731586:55751101:55751196:55753392:55753475 | 55751101:55751196 |
| exon_skip_239665 | chrX | 55719314:55719347:55722186:55722285:55729294:55729360 | 55722186:55722285 |
| exon_skip_251822 | chrX | 55722191:55722285:55727307:55727390:55729294:55729360 | 55727307:55727390 |
| exon_skip_71408 | chrX | 55722206:55722285:55727307:55727390:55729294:55729360 | 55727307:55727390 |
| exon_skip_81787 | chrX | 55753392:55753514:55755841:55755932:55757216:55757331 | 55755841:55755932 |
| 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 |
| exon_skip_251822 | ROSMAP_DLPFC | 5.401775e-01 | 6.834021e-01 | -1.432245e-01 | 1.538824e-03 |
| exon_skip_251822 | ROSMAP_PCC | 5.860976e-01 | 6.909639e-01 | -1.048663e-01 | 4.523911e-03 |
| exon_skip_251822 | Mayo_CB | 2.370370e-01 | 4.184507e-01 | -1.814137e-01 | 8.673170e-09 |
| exon_skip_254808 | Mayo_CB | 7.684615e-01 | 8.859677e-01 | -1.175062e-01 | 1.752435e-06 |
| exon_skip_71408 | Mayo_TC | 4.762195e-01 | 6.126667e-01 | -1.364472e-01 | 7.676183e-06 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RRAGB |
| 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 |
| ENST00000262850 | 55755841 | 55755932 | Frame-shift |
| ENST00000262850 | 55727307 | 55727390 | 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 |
| ENST00000262850 | 55755841 | 55755932 | Frame-shift |
| ENST00000262850 | 55727307 | 55727390 | 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 |
| ENST00000262850 | 55755841 | 55755932 | Frame-shift |
| ENST00000262850 | 55727307 | 55727390 | In-frame |
| ENST00000262850 | 55751101 | 55751196 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for RRAGB |
p-ENSG00000083750_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 |
| ENST00000262850 | 1590 | 374 | 55727307 | 55727390 | 671 | 753 | 76 | 103 |
| 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 |
| ENST00000262850 | 1590 | 374 | 55727307 | 55727390 | 671 | 753 | 76 | 103 |
| 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 |
| ENST00000262850 | 1590 | 374 | 55727307 | 55727390 | 671 | 753 | 76 | 103 |
| ENST00000262850 | 1590 | 374 | 55751101 | 55751196 | 1045 | 1139 | 200 | 232 |
| 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 |
| Q5VZM2 | 76 | 103 | 77 | 104 | Alternative sequence | ID=VSP_052073;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|PubMed:7499430,ECO:0000303|PubMed:9 |
| Q5VZM2 | 76 | 103 | 1 | 374 | Chain | ID=PRO_0000239948;Note=Ras-related GTP-binding protein B |
| 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 |
| Q5VZM2 | 76 | 103 | 77 | 104 | Alternative sequence | ID=VSP_052073;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|PubMed:7499430,ECO:0000303|PubMed:9 |
| Q5VZM2 | 76 | 103 | 1 | 374 | Chain | ID=PRO_0000239948;Note=Ras-related GTP-binding protein B |
| 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 |
| Q5VZM2 | 76 | 103 | 77 | 104 | Alternative sequence | ID=VSP_052073;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|PubMed:7499430,ECO:0000303|PubMed:9 |
| Q5VZM2 | 76 | 103 | 1 | 374 | Chain | ID=PRO_0000239948;Note=Ras-related GTP-binding protein B |
| Q5VZM2 | 200 | 232 | 1 | 374 | Chain | ID=PRO_0000239948;Note=Ras-related GTP-binding protein B |
| Q5VZM2 | 200 | 232 | 203 | 203 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q7L523 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in RRAGB |
| 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 RRAGB |
| - 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 RRAGB |
| 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 RRAGB |
| 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 RRAGB |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_251822 | -4.716847e-01 | 8.573211e-10 |
| CB | RBM6 | exon_skip_251822 | -5.693690e-01 | 1.946639e-14 |
| CB | RBM3 | exon_skip_251822 | 5.498456e-01 | 2.189319e-13 |
| CB | RBM45 | exon_skip_251822 | 7.529094e-01 | 4.791260e-29 |
| CB | NUP42 | exon_skip_251822 | 5.460401e-01 | 3.446093e-13 |
| CB | SRSF4 | exon_skip_251822 | -5.063912e-01 | 2.817128e-11 |
| CB | PCBP1 | exon_skip_254808 | -4.952730e-01 | 4.942072e-10 |
| CB | FUBP1 | exon_skip_254808 | -4.451474e-01 | 3.573868e-08 |
| CB | PTBP1 | exon_skip_254808 | -4.504109e-01 | 2.353285e-08 |
| CB | SRSF4 | exon_skip_254808 | -4.961889e-01 | 4.540132e-10 |
| DLPFC | RBM3 | exon_skip_251822 | 4.853622e-01 | 3.977471e-17 |
| DLPFC | KHDRBS2 | exon_skip_251822 | 5.440766e-01 | 6.749650e-22 |
| DLPFC | EIF4B | exon_skip_251822 | 4.332521e-01 | 1.346595e-13 |
| HCC | DAZAP1 | exon_skip_251822 | -4.229450e-01 | 3.473948e-13 |
| HCC | RBM6 | exon_skip_251822 | -4.560055e-01 | 2.539045e-15 |
| HCC | RBM3 | exon_skip_251822 | 4.210987e-01 | 4.501996e-13 |
| HCC | SRSF4 | exon_skip_251822 | -4.642893e-01 | 6.794673e-16 |
| IFG | RBMS3 | exon_skip_251822 | -6.235472e-01 | 1.477702e-03 |
| IFG | PABPN1L | exon_skip_251822 | -4.873111e-01 | 1.834826e-02 |
| IFG | RBM6 | exon_skip_251822 | -5.591107e-01 | 5.545204e-03 |
| IFG | IGF2BP3 | exon_skip_251822 | -5.609639e-01 | 5.357681e-03 |
| IFG | SF1 | exon_skip_251822 | -4.902132e-01 | 1.756417e-02 |
| IFG | RBM45 | exon_skip_251822 | -5.682061e-01 | 4.674857e-03 |
| IFG | SRSF4 | exon_skip_251822 | -6.123531e-01 | 1.897310e-03 |
| IFG | RBM41 | exon_skip_251822 | -6.395665e-01 | 1.016095e-03 |
| PCC | RBM6 | exon_skip_251822 | -4.132725e-01 | 6.671431e-10 |
| PCC | RBM3 | exon_skip_251822 | 4.890702e-01 | 8.728720e-14 |
| TC | RBM6 | exon_skip_71408 | -4.470923e-01 | 4.357773e-09 |
| TC | RBM3 | exon_skip_71408 | 6.423188e-01 | 1.225662e-19 |
| TC | KHDRBS2 | exon_skip_71408 | 6.532764e-01 | 1.810620e-20 |
| TC | HNRNPDL | exon_skip_71408 | 5.050696e-01 | 1.523322e-11 |
| TC | RBM45 | exon_skip_71408 | 5.819821e-01 | 1.308104e-15 |
| TC | NUP42 | exon_skip_71408 | 5.777042e-01 | 2.351192e-15 |
| TC | NOVA1 | exon_skip_71408 | 6.821773e-01 | 7.824302e-23 |
Top |
RelatedDrugs for RRAGB |
| 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 RRAGB |
| 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)
|