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 G3BP1
Gene summary
Basic gene Info.Gene symbolG3BP1
Gene nameGTPase activating protein (SH3 domain) binding protein 1
SynonymsG3BP|HDH-VIII
CytomapUCSC genome browser: 5q33.1
Type of geneprotein-coding
RefGenesNM_005754.2,
NM_198395.1,
DescriptionATP-dependent DNA helicase VIIIG3BP-1GAP SH3 domain-binding protein 1GAP binding proteinRas-GTPase-activating protein SH3-domain-binding proteinRasGAP-associated endoribonuclease G3BPras GTPase-activating protein-binding protein 1
Modification date20141207
dbXrefs MIM : 608431
HGNC : HGNC
Ensembl : ENSG00000145907
HPRD : 06569
Vega : OTTHUMG00000130123
ProteinUniProt: Q13283
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_G3BP1
BioGPS: 10146
PathwayNCI Pathway Interaction Database: G3BP1
KEGG: G3BP1
REACTOME: G3BP1
Pathway Commons: G3BP1
ContextiHOP: G3BP1
ligand binding site mutation search in PubMed: G3BP1
UCL Cancer Institute: G3BP1
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


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Ligand binding site mutations for G3BP1
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
E117G118WLUAD2
E117A115VCOAD1
Y34K36NCOAD1
K123K123TCOAD1
Q18Y20HKIRC1
V11V11FLUAD1
E117A115SLUAD1
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 G3BP1
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
Y34K36N-0.8024909
E117A115S-0.793688
E117G118W-0.55801966
V11V11F-0.55321754
K123K123T-0.38952381
E117A115V-0.30955208
Q18Y20H-0.1463621
(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 G3BP1 from PDB
PDB IDPDB titlePDB structure
3Q90Crystal structure of the NTF2 domain of Ras GTPase-activating protein-binding protein 1

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Differential gene expression and gene-gene network for G3BP1
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 G3BP1 and the right PPI network was created from samples without mutations in the LBS of G3BP1. 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 G3BP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

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

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Pharmacological information for G3BP1
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 G3BP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (SER,GLY,PHE,SER,PHE)4fcmAV11 Q18 K123
IIIPeptide ligand (SER,GLY,PHE,SER,PHE)4fcmBV11 Q18 Y34 E117 K123


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Conservation information for LBS of G3BP1
Multiple alignments for Q13283 in multiple species
LBSAA sequence# speciesSpecies
E117FVLAPEGSVAN3Homo sapiens, Mus musculus, Bos taurus
E14LLVGREFVRQY3Homo sapiens, Mus musculus, Bos taurus
F124SVANKFYVHND3Homo sapiens, Mus musculus, Bos taurus
F15LVGREFVRQYY3Homo sapiens, Mus musculus, Bos taurus
F33DMLHRFYGKNS3Homo sapiens, Mus musculus, Bos taurus
K123GSVANKFYVHN3Homo sapiens, Mus musculus, Bos taurus
L10KPSPLLVGREF3Homo sapiens, Mus musculus, Bos taurus
N122EGSVANKFYVH3Homo sapiens, Mus musculus, Bos taurus
P6MVMEKPSPLLV3Homo sapiens, Mus musculus, Bos taurus
Q18REFVRQYYTLL3Homo sapiens, Mus musculus, Bos taurus
R32PDMLHRFYGKN3Homo sapiens, Mus musculus, Bos taurus
V11PSPLLVGREFV3Homo sapiens, Mus musculus, Bos taurus
Y125VANKFYVHNDI3Homo sapiens, Mus musculus, Bos taurus
Y34MLHRFYGKNSS3Homo sapiens, Mus musculus, Bos taurus


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