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 DIRAS2
Gene summary
Basic gene Info.Gene symbolDIRAS2
Gene nameDIRAS family, GTP-binding RAS-like 2
SynonymsDi-Ras2
CytomapUCSC genome browser: 9q22.2
Type of geneprotein-coding
RefGenesNM_017594.3,
DescriptionGTP-binding protein Di-Ras2distinct subgroup of the Ras family member 2
Modification date20141207
dbXrefs MIM : 607863
HGNC : HGNC
Ensembl : ENSG00000165023
HPRD : 09711
Vega : OTTHUMG00000020196
ProteinUniProt: Q96HU8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DIRAS2
BioGPS: 54769
PathwayNCI Pathway Interaction Database: DIRAS2
KEGG: DIRAS2
REACTOME: DIRAS2
Pathway Commons: DIRAS2
ContextiHOP: DIRAS2
ligand binding site mutation search in PubMed: DIRAS2
UCL Cancer Institute: DIRAS2
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:0043406positive regulation of MAP kinase activity12194967


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Ligand binding site mutations for DIRAS2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T39T39MBRCA1
R33R33WCOAD1
A152A152TCOAD1
T39T39MCOAD1
T39P38QLUAD1
R33R33LLUAD1
T39P38LSKCM1
R33R33WSTAD1
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 DIRAS2
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
T39P38Q-1.0034887
T39T39M-0.76613844
A152A152T-0.69944977
R33R33W-0.4717569
T39P38L-0.46381808
R33R33L-0.20018816
(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 DIRAS2 from PDB

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Differential gene expression and gene-gene network for DIRAS2
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 DIRAS2 and the right PPI network was created from samples without mutations in the LBS of DIRAS2. 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 DIRAS2
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 DIRAS2
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 DIRAS2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE2erxAR33 A152
GDPGUANOSINE-5'-DIPHOSPHATE2erxBR33 A152
PO4PHOSPHATE ION2erxAT39
MGMAGNESIUM(2+)2erxAT39
PO4PHOSPHATE ION2erxBT39
MGMAGNESIUM(2+)2erxBT39


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Conservation information for LBS of DIRAS2
Multiple alignments for Q96HU8 in multiple species
LBSAA sequence# speciesSpecies


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