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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 VAV1 |
 Gene summary |
| Gene information | Gene symbol | VAV1 | Gene ID | 7409 |
| Gene name | vav guanine nucleotide exchange factor 1 | |
| Synonyms | VAV | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | proto-oncogene vavvav 1 guanine nucleotide exchange factorvav 1 oncogene | |
| 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 |
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Gene structures and expression levels for VAV1 |
| 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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ENSG00000141968
| 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. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for VAV1 |
| 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_110175 | chr19 | 6850670:6850757:6852965:6853079:6853947:6854098 | 6852965:6853079 |
| exon_skip_140072 | chr19 | 6822221:6822329:6822419:6822514:6825053:6825121 | 6822419:6822514 |
| exon_skip_219192 | chr19 | 6836432:6836568:6836985:6837050:6843135:6843166 | 6836985:6837050 |
| exon_skip_277821 | chr19 | 6825053:6825121:6825303:6825406:6826612:6826711 | 6825303:6825406 |
| exon_skip_46601 | chr19 | 6825303:6825406:6826612:6826711:6828076:6828171 | 6826612:6826711 |
| exon_skip_76795 | chr19 | 6843135:6843166:6847998:6848114:6850670:6850757 | 6847998:6848114 |
| 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 |
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Open reading frame (ORF) annotation in the exon skipping event for VAV1 |
| 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 |
| ENST00000602142 | 6825303 | 6825406 | Frame-shift |
| ENST00000602142 | 6826612 | 6826711 | Frame-shift |
| ENST00000602142 | 6852965 | 6853079 | Frame-shift |
| ENST00000602142 | 6822419 | 6822514 | In-frame |
| ENST00000602142 | 6836985 | 6837050 | 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 |
| 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 |
| ENST00000602142 | 6826612 | 6826711 | Frame-shift |
| ENST00000602142 | 6852965 | 6853079 | Frame-shift |
| ENST00000602142 | 6822419 | 6822514 | In-frame |
| ENST00000602142 | 6847998 | 6848114 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VAV1 |
p-ENSG00000141968_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 |
| ENST00000602142 | 2637 | 845 | 6822419 | 6822514 | 642 | 736 | 186 | 218 |
| ENST00000602142 | 2637 | 845 | 6836985 | 6837050 | 1998 | 2062 | 638 | 660 |
| 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 |
| ENST00000602142 | 2637 | 845 | 6822419 | 6822514 | 642 | 736 | 186 | 218 |
| ENST00000602142 | 2637 | 845 | 6847998 | 6848114 | 2096 | 2211 | 671 | 709 |
| 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 |
| P15498 | 186 | 218 | 187 | 218 | Alternative sequence | ID=VSP_047563;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P15498 | 186 | 218 | 1 | 845 | Chain | ID=PRO_0000080980;Note=Proto-oncogene vav |
| P15498 | 186 | 218 | 194 | 373 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P15498 | 186 | 218 | 191 | 218 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJI |
| P15498 | 638 | 660 | 1 | 845 | Chain | ID=PRO_0000080980;Note=Proto-oncogene vav |
| P15498 | 638 | 660 | 592 | 660 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| 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 |
| P15498 | 186 | 218 | 187 | 218 | Alternative sequence | ID=VSP_047563;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P15498 | 186 | 218 | 1 | 845 | Chain | ID=PRO_0000080980;Note=Proto-oncogene vav |
| P15498 | 186 | 218 | 194 | 373 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| P15498 | 186 | 218 | 191 | 218 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BJI |
| P15498 | 671 | 709 | 669 | 672 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CRH |
| P15498 | 671 | 709 | 692 | 696 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CRH |
| P15498 | 671 | 709 | 700 | 702 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LCT |
| P15498 | 671 | 709 | 706 | 711 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CRH |
| P15498 | 671 | 709 | 1 | 845 | Chain | ID=PRO_0000080980;Note=Proto-oncogene vav |
| P15498 | 671 | 709 | 671 | 765 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| P15498 | 671 | 709 | 678 | 684 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CRH |
| P15498 | 671 | 709 | 696 | 696 | Mutagenesis | Note=Loss of interaction with SYK. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8986718;Dbxref=PMID:8986718 |
| P15498 | 671 | 709 | 685 | 687 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CRH |
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3'-UTR located exon skipping events that lost miRNA binding sites in VAV1 |
| 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 VAV1 |
| - 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 VAV1 |
| 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 VAV1 |
| 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 VAV1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for VAV1 |
| 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 VAV1 |
| 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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