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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180519 | |
| UniProtAcc | P15498 | |
| Context | PubMed: VAV1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for VAV1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for VAV1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for VAV1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301275 | 19 | 6821632:6821691:6821801:6821870:6822231:6822340 | 6821801:6821870 | ENSG00000141968.3 | ENST00000602142.1,ENST00000539284.1,ENST00000304076.2,ENST00000599806.1,ENST00000596764.1 |
| exon_skip_301276 | 19 | 6822231:6822340:6822429:6822525:6825063:6825132 | 6822429:6822525 | ENSG00000141968.3 | ENST00000602142.1,ENST00000304076.2,ENST00000599806.1 |
| exon_skip_301277 | 19 | 6825313:6825417:6826622:6826722:6828086:6828182 | 6826622:6826722 | ENSG00000141968.3 | ENST00000602142.1,ENST00000539284.1,ENST00000304076.2,ENST00000599806.1,ENST00000596764.1 |
| exon_skip_301278 | 19 | 6833538:6833636:6833721:6833744:6833918:6833964 | 6833721:6833744 | ENSG00000141968.3 | ENST00000602142.1,ENST00000539284.1,ENST00000304076.2,ENST00000599806.1,ENST00000596764.1 |
| exon_skip_301279 | 19 | 6836442:6836579:6836995:6837061:6843145:6843177 | 6836995:6837061 | ENSG00000141968.3 | ENST00000602142.1,ENST00000539284.1,ENST00000599806.1,ENST00000596764.1 |
| exon_skip_301282 | 19 | 6843145:6843177:6848008:6848125:6850680:6850768 | 6848008:6848125 | ENSG00000141968.3 | ENST00000602142.1,ENST00000539284.1,ENST00000304076.2,ENST00000599806.1,ENST00000596764.1 |
| exon_skip_301283 | 19 | 6850680:6850768:6852975:6853090:6853957:6854109 | 6852975:6853090 | ENSG00000141968.3 | ENST00000602142.1,ENST00000539284.1,ENST00000304076.2,ENST00000599806.1,ENST00000596764.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VAV1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301275 | 19 | 6821632:6821691:6821801:6821870:6822231:6822340 | 6821801:6821870 | ENSG00000141968.3 | ENST00000304076.2,ENST00000602142.1,ENST00000596764.1,ENST00000539284.1,ENST00000599806.1 |
| exon_skip_301276 | 19 | 6822231:6822340:6822429:6822525:6825063:6825132 | 6822429:6822525 | ENSG00000141968.3 | ENST00000304076.2,ENST00000602142.1,ENST00000599806.1 |
| exon_skip_301277 | 19 | 6825313:6825417:6826622:6826722:6828086:6828182 | 6826622:6826722 | ENSG00000141968.3 | ENST00000304076.2,ENST00000602142.1,ENST00000596764.1,ENST00000539284.1,ENST00000599806.1 |
| exon_skip_301278 | 19 | 6833538:6833636:6833721:6833744:6833918:6833964 | 6833721:6833744 | ENSG00000141968.3 | ENST00000304076.2,ENST00000602142.1,ENST00000596764.1,ENST00000539284.1,ENST00000599806.1 |
| exon_skip_301279 | 19 | 6836442:6836579:6836995:6837061:6843145:6843177 | 6836995:6837061 | ENSG00000141968.3 | ENST00000602142.1,ENST00000596764.1,ENST00000539284.1,ENST00000599806.1 |
| exon_skip_301282 | 19 | 6843145:6843177:6848008:6848125:6850680:6850768 | 6848008:6848125 | ENSG00000141968.3 | ENST00000304076.2,ENST00000602142.1,ENST00000596764.1,ENST00000539284.1,ENST00000599806.1 |
| exon_skip_301283 | 19 | 6850680:6850768:6852975:6853090:6853957:6854109 | 6852975:6853090 | ENSG00000141968.3 | ENST00000304076.2,ENST00000602142.1,ENST00000596764.1,ENST00000539284.1,ENST00000599806.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000602142 | 6826622 | 6826722 | Frame-shift |
| ENST00000602142 | 6833721 | 6833744 | Frame-shift |
| ENST00000602142 | 6852975 | 6853090 | Frame-shift |
| ENST00000602142 | 6821801 | 6821870 | In-frame |
| ENST00000602142 | 6822429 | 6822525 | In-frame |
| ENST00000602142 | 6836995 | 6837061 | In-frame |
| ENST00000602142 | 6848008 | 6848125 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000602142 | 6826622 | 6826722 | Frame-shift |
| ENST00000602142 | 6833721 | 6833744 | Frame-shift |
| ENST00000602142 | 6852975 | 6853090 | Frame-shift |
| ENST00000602142 | 6821801 | 6821870 | In-frame |
| ENST00000602142 | 6822429 | 6822525 | In-frame |
| ENST00000602142 | 6836995 | 6837061 | In-frame |
| ENST00000602142 | 6848008 | 6848125 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VAV1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 6821801 | 6821870 | 463 | 531 | 127 | 149 |
| ENST00000602142 | 2637 | 845 | 6822429 | 6822525 | 641 | 736 | 186 | 218 |
| ENST00000602142 | 2637 | 845 | 6836995 | 6837061 | 1997 | 2062 | 638 | 660 |
| ENST00000602142 | 2637 | 845 | 6848008 | 6848125 | 2095 | 2211 | 671 | 709 |
| Loci of skipped exons in GTEx 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 | 6821801 | 6821870 | 463 | 531 | 127 | 149 |
| ENST00000602142 | 2637 | 845 | 6822429 | 6822525 | 641 | 736 | 186 | 218 |
| ENST00000602142 | 2637 | 845 | 6836995 | 6837061 | 1997 | 2062 | 638 | 660 |
| ENST00000602142 | 2637 | 845 | 6848008 | 6848125 | 2095 | 2211 | 671 | 709 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 | 127 | 149 | 1 | 845 | Chain | ID=PRO_0000080980;Note=Proto-oncogene vav |
| P15498 | 127 | 149 | 145 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KY9 |
| 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 |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 | 127 | 149 | 1 | 845 | Chain | ID=PRO_0000080980;Note=Proto-oncogene vav |
| P15498 | 127 | 149 | 145 | 149 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KY9 |
| 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 |
| 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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SNVs in the skipped exons for VAV1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_301275 | 6821802 | 6821870 | 6821817 | 6821817 | Frame_Shift_Del | G | - | p.E134fs |
| HNSC | TCGA-BA-A6DG-01 | exon_skip_301277 | 6826623 | 6826722 | 6826656 | 6826656 | Frame_Shift_Del | G | - | p.V287fs |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_301282 | 6848009 | 6848125 | 6848009 | 6848009 | Nonsense_Mutation | G | A | p.W671* |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_301282 | 6848009 | 6848125 | 6848009 | 6848009 | Nonsense_Mutation | G | A | p.W671X |
| PAAD | TCGA-IB-7651-01 | exon_skip_301282 | 6848009 | 6848125 | 6848025 | 6848025 | Nonsense_Mutation | G | T | p.E655* |
| PAAD | TCGA-IB-7651-01 | exon_skip_301282 | 6848009 | 6848125 | 6848025 | 6848025 | Nonsense_Mutation | G | T | p.E677* |
| PAAD | TCGA-IB-7651-01 | exon_skip_301282 | 6848009 | 6848125 | 6848025 | 6848025 | Nonsense_Mutation | G | T | p.E677X |
| STAD | TCGA-CD-5800-01 | exon_skip_301278 | 6833722 | 6833744 | 6833745 | 6833745 | Splice_Site | G | A | . |
| STAD | TCGA-CD-5800-01 | exon_skip_301278 | 6833722 | 6833744 | 6833745 | 6833745 | Splice_Site | G | A | p.K577_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC6_ENDOMETRIUM | 6848009 | 6848125 | 6848119 | 6848119 | Missense_Mutation | G | A | p.S708N |
| FU97_STOMACH | 6852976 | 6853090 | 6853022 | 6853022 | Missense_Mutation | A | C | p.K755T |
| NCIH2342_LUNG | 6852976 | 6853090 | 6853036 | 6853036 | Missense_Mutation | A | G | p.T760A |
| CL14_LARGE_INTESTINE | 6852976 | 6853090 | 6853061 | 6853061 | Missense_Mutation | C | T | p.P768L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VAV1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VAV1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VAV1 |
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RelatedDrugs for VAV1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| VAV1 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| VAV1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| VAV1 | C0025149 | Medulloblastoma | 1 | CTD_human |
| VAV1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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