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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for RAB3GAP1 |
 Gene summary |
| Gene information | Gene symbol | RAB3GAP1 | Gene ID | 22930 |
| Gene name | RAB3 GTPase activating protein catalytic subunit 1 | |
| Synonyms | P130|RAB3GAP|RAB3GAP130|WARBM1 | |
| Cytomap | 2q21.3 | |
| Type of gene | protein-coding | |
| Description | rab3 GTPase-activating protein catalytic subunitRAB3 GTPase activating protein subunit 1 (catalytic)RAB3 GTPase-activating protein 130 kDa subunitrab3-GAP p130 | |
| 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 |
| RAB3GAP1 | GO:0043087 | regulation of GTPase activity | 10859313 |
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Gene structures and expression levels for RAB3GAP1 |
| 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. |
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ENSG00000115839
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000497080.1 | RAB3GAP1-206:retained_intron:RAB3GAP1 | 9.725120e+00 | -1.585943e+00 | 6.138364e-08 | 1.406288e-06 |
| TC | DOWN | ENST00000497080.1 | RAB3GAP1-206:retained_intron:RAB3GAP1 | 1.681944e+01 | -1.102749e+00 | 2.172131e-05 | 4.766906e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RAB3GAP1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_147600 | chr2 | 135113151:135113270:135115216:135115381:135120819:135120918 | 135115216:135115381 |
| exon_skip_160806 | chr2 | 135164594:135164696:135167693:135167713:135168545:135168717 | 135167693:135167713 |
| exon_skip_180861 | chr2 | 135126181:135126249:135126583:135126656:135129995:135130087 | 135126583:135126656 |
| exon_skip_235363 | chr2 | 135164594:135164696:135167693:135167713:135168545:135168749 | 135167693:135167713 |
| exon_skip_54500 | chr2 | 135058011:135058086:135090998:135091130:135093615:135093693 | 135090998:135091130 |
| exon_skip_5766 | chr2 | 135052430:135052485:135058011:135058086:135090998:135091130 | 135058011:135058086 |
| exon_skip_6452 | chr2 | 135162555:135162651:135162748:135162851:135162986:135163101 | 135162748:135162851 |
| exon_skip_8595 | chr2 | 135058011:135058086:135090998:135091130:135093615:135093685 | 135090998:135091130 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_235363 | ROSMAP_PCC | 3.955814e-01 | 4.974118e-01 | -1.018304e-01 | 3.241883e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for RAB3GAP1 |
| 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 |
| ENST00000264158 | 135115216 | 135115381 | 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 |
| ENST00000264158 | 135115216 | 135115381 | 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 |
| ENST00000264158 | 135058011 | 135058086 | Frame-shift |
| ENST00000264158 | 135090998 | 135091130 | Frame-shift |
| ENST00000264158 | 135115216 | 135115381 | Frame-shift |
| ENST00000264158 | 135126583 | 135126656 | Frame-shift |
| ENST00000264158 | 135162748 | 135162851 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB3GAP1 |
p-ENSG00000115839_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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RAB3GAP1 |
| 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 |
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SNVs in the skipped exons for RAB3GAP1 |
| - 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 |
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AD stage-associated exon skippint events for RAB3GAP1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB3GAP1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for RAB3GAP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_147600 | -4.346185e-01 | 3.790293e-08 |
| CB | TRA2A | exon_skip_147600 | -5.975305e-01 | 1.355766e-15 |
| CB | KHSRP | exon_skip_147600 | -4.243396e-01 | 8.497324e-08 |
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RelatedDrugs for RAB3GAP1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RAB3GAP1 |
| 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)
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