mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RASA1
Gene summary
Basic gene Info.Gene symbolRASA1
Gene nameRAS p21 protein activator (GTPase activating protein) 1
CytomapUCSC genome browser: 5q13.3
Type of geneprotein-coding
Descriptionras GTPase-activating protein 1triphosphatase-activating protein
Modification date20141221
dbXrefs MIM : 139150
Ensembl : ENSG00000145715
HPRD : 00745
Vega : OTTHUMG00000162605
ProteinUniProt: P20936
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RASA1
BioGPS: 5921
PathwayNCI Pathway Interaction Database: RASA1
Pathway Commons: RASA1
ContextiHOP: RASA1
ligand binding site mutation search in PubMed: RASA1
UCL Cancer Institute: RASA1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001953negative regulation of cell-matrix adhesion8344248
GO:0007162negative regulation of cell adhesion8344248
GO:0007165signal transduction1756860
GO:0030833regulation of actin filament polymerization8344248

Ligand binding site mutations for RASA1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for RASA1
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

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.
LBSAAchange of nsSNVRelative stability change
(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 RASA1 from PDB

Differential gene expression and gene-gene network for RASA1
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)
* Left PPI network was created from samples with mutations in the LBS of RASA1 and the right PPI network was created from samples without mutations in the LBS of RASA1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RASA1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1842180Capillary Malformation-Arteriovenous Malformation12Biomarker, GeneticVariation
umls:C0003857Arteriovenous Malformations9Biomarker
umls:C0038505Sturge-Weber Syndrome5Biomarker
umls:C0007097Carcinoma3AlteredExpression, Biomarker
umls:C0235752Port-Wine Stain2Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0024667Mammary Neoplasms, Animal1Biomarker
umls:C0024668Mammary Neoplasms, Experimental1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for RASA1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RASA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RASA1
Multiple alignments for P20936 in multiple species
LBSAA sequence# speciesSpecies
R789ATTLFRATTLA3Homo sapiens, Rattus norvegicus, Bos taurus
T785MEDEATTLFRA3Homo sapiens, Rattus norvegicus, Bos taurus

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