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mutLBSgeneDB |
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| Gene summary for VAV1 |
 Gene summary |
| Basic gene Info. | Gene symbol | VAV1 |
| Gene name | vav 1 guanine nucleotide exchange factor | |
| Synonyms | VAV | |
| Cytomap | UCSC genome browser: 19p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001258206.1, NM_001258207.1,NM_005428.3, | |
| Description | proto-oncogene vavvav 1 oncogene | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 164875 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000141968 | ||
| HPRD : 01284 | ||
| Vega : OTTHUMG00000181965 | ||
| Protein | UniProt: P15498 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_VAV1 | |
| BioGPS: 7409 | ||
| Pathway | NCI Pathway Interaction Database: VAV1 | |
| KEGG: VAV1 | ||
| REACTOME: VAV1 | ||
| Pathway Commons: VAV1 | ||
| Context | iHOP: VAV1 | |
| ligand binding site mutation search in PubMed: VAV1 | ||
| UCL Cancer Institute: VAV1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for VAV1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K716 | V715I | BRCA | 1 | R678 | R678Q | COAD | 1 | R696 | R696W | COAD | 1 | R678 | R678Q | LUAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for VAV1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | K716 | V715I | -1.4306204 | R678 | R678Q | -1.2441123 | R696 | R696W | -0.44829841 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for VAV1 from PDB |
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| Differential gene expression and gene-gene network for VAV1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for VAV1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025149 | Medulloblastoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for VAV1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of VAV1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,THR,GLU,VAL,TYR,GLU,SER,PRO,TYR,ALA,ASP,PRO,GLU) | 2lct | A | R678 R696 K716 | III | Peptide ligand (ASP,THR,GLU,VAL,TYR,GLU,SER,PRO,TYR,ALA,ASP,PRO,GLU) | 2mc1 | A | R678 R696 K716 |
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| Conservation information for LBS of VAV1 |
| Multiple alignments for P15498 in multiple species |
| LBS | AA sequence | # species | Species | A679 | GPMERAGAESI | 2 | Homo sapiens, Bos taurus | A679 | GNMDRETAAHR | 1 | Drosophila melanogaster | A679 | GPMERAGAEGI | 1 | Mus musculus | A706 | ----FAISIKY | 3 | Homo sapiens, Mus musculus, Bos taurus | A706 | HETMYALSLKT | 1 | Drosophila melanogaster | C753 | NSLKDCFKSLD | 3 | Homo sapiens, Mus musculus, Bos taurus | C753 | NDLGENFAGLN | 1 | Drosophila melanogaster | D752 | QNSLKDCFKSL | 3 | Homo sapiens, Mus musculus, Bos taurus | D752 | RNDLGENFAGL | 1 | Drosophila melanogaster | E677 | YAGPMERAGAE | 3 | Homo sapiens, Mus musculus, Bos taurus | E677 | FAGNMDRETAA | 1 | Drosophila melanogaster | E704 | VKDAAE----- | 2 | Homo sapiens, Bos taurus | E704 | PQGPSTAHETM | 1 | Drosophila melanogaster | E704 | VKDTAE----- | 1 | Mus musculus | E731 | LYRITEKKAFR | 3 | Homo sapiens, Mus musculus, Bos taurus | E731 | LYCLSSRRHFK | 1 | Drosophila melanogaster | F754 | SLKDCFKSLDT | 3 | Homo sapiens, Mus musculus, Bos taurus | F754 | DLGENFAGLNQ | 1 | Drosophila melanogaster | H717 | VEV-KHIKIMT | 3 | Homo sapiens, Mus musculus, Bos taurus | H717 | DNVIKHMKINQ | 1 | Drosophila melanogaster | I718 | EV-KHIKIMTA | 2 | Homo sapiens, Bos taurus | I718 | NVIKHMKINQE | 1 | Drosophila melanogaster | I718 | EV-KHIKIMTS | 1 | Mus musculus | K716 | NVEV-KHIKIM | 3 | Homo sapiens, Mus musculus, Bos taurus | K716 | DDNVIKHMKIN | 1 | Drosophila melanogaster | K719 | V-KHIKIMTAE | 2 | Homo sapiens, Bos taurus | K719 | VIKHMKINQEN | 1 | Drosophila melanogaster | K719 | V-KHIKIMTSE | 1 | Mus musculus | K732 | YRITEKKAFRG | 3 | Homo sapiens, Mus musculus, Bos taurus | K732 | YCLSSRRHFKT | 1 | Drosophila melanogaster | K751 | QQNSLKDCFKS | 3 | Homo sapiens, Mus musculus, Bos taurus | K751 | ERNDLGENFAG | 1 | Drosophila melanogaster | K755 | LKDCFKSLDTT | 3 | Homo sapiens, Mus musculus, Bos taurus | K755 | LGENFAGLNQS | 1 | Drosophila melanogaster | L757 | DCFKSLDTTLQ | 3 | Homo sapiens, Mus musculus, Bos taurus | L757 | ENFAGLNQSLQ | 1 | Drosophila melanogaster | Q697 | TFLVRQRVKDA | 2 | Homo sapiens, Bos taurus | Q697 | TYLLRVRPQGP | 1 | Drosophila melanogaster | Q697 | TYLVRQRVKDT | 1 | Mus musculus | R678 | AGPMERAGAES | 2 | Homo sapiens, Bos taurus | R678 | AGNMDRETAAH | 1 | Drosophila melanogaster | R678 | AGPMERAGAEG | 1 | Mus musculus | R696 | GTFLVRQRVKD | 2 | Homo sapiens, Bos taurus | R696 | GTYLLRVRPQG | 1 | Drosophila melanogaster | R696 | GTYLVRQRVKD | 1 | Mus musculus | R698 | FLVRQRVKDAA | 2 | Homo sapiens, Bos taurus | R698 | YLLRVRPQGPS | 1 | Drosophila melanogaster | R698 | YLVRQRVKDTA | 1 | Mus musculus | S756 | KDCFKSLDTTL | 3 | Homo sapiens, Mus musculus, Bos taurus | S756 | GENFAGLNQSL | 1 | Drosophila melanogaster | T730 | -LYRITEKKAF | 3 | Homo sapiens, Mus musculus, Bos taurus | T730 | MLYCLSSRRHF | 1 | Drosophila melanogaster | V699 | LVRQRVKDAAE | 2 | Homo sapiens, Bos taurus | V699 | LLRVRPQGPST | 1 | Drosophila melanogaster | V699 | LVRQRVKDTAE | 1 | Mus musculus |
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