mutLBSgeneDB

mutLBSgeneDB
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 DIRAS1
Gene summary
Basic gene Info.Gene symbolDIRAS1
Gene nameDIRAS family, GTP-binding RAS-like 1
SynonymsDi-Ras1|GBTS1|RIG
CytomapUCSC genome browser: 19p13.3
Type of geneprotein-coding
RefGenesNM_145173.3,
DescriptionGTP-binding protein Di-Ras1distinct subgroup of the Ras family member 1ras-related inhibitor of cell growthsmall GTP-binding tumor suppressor 1
Modification date20141207
dbXrefs MIM : 607862
HGNC : HGNC
Ensembl : ENSG00000176490
HPRD : 09710
Vega : OTTHUMG00000180439
ProteinUniProt: O95057
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DIRAS1
BioGPS: 148252
PathwayNCI Pathway Interaction Database: DIRAS1
KEGG: DIRAS1
REACTOME: DIRAS1
Pathway Commons: DIRAS1
ContextiHOP: DIRAS1
ligand binding site mutation search in PubMed: DIRAS1
UCL Cancer Institute: DIRAS1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006184GTP catabolic process12194967
GO:0043406positive regulation of MAP kinase activity12194967


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Ligand binding site mutations for DIRAS1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V18V18MCOAD1
N121V119MLUSC1
S150S150LSKCM1
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 DIRAS1
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
S150S150L0.36564815
N121V119M-0.81028083
V18V18M-0.42467584
(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 DIRAS1 from PDB

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Differential gene expression and gene-gene network for DIRAS1
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 DIRAS1 and the right PPI network was created from samples without mutations in the LBS of DIRAS1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for DIRAS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for DIRAS1
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 DIRAS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE2gf0AV18 N121 S150
GDPGUANOSINE-5'-DIPHOSPHATE2gf0BV18 N121 S150
GDPGUANOSINE-5'-DIPHOSPHATE2gf0CV18 N121 S150
GDPGUANOSINE-5'-DIPHOSPHATE2gf0DV18 N121 S150


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Conservation information for LBS of DIRAS1
Multiple alignments for O95057 in multiple species
LBSAA sequence# speciesSpecies


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