mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 RAC3
Gene summary
Basic gene Info.Gene symbolRAC3
Gene nameras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)
Synonyms-
CytomapUCSC genome browser: 17q25.3
Type of geneprotein-coding
RefGenesNM_005052.2,
Descriptionp21-Rac3ras-related C3 botulinum toxin substrate 3rho family, small GTP binding protein Rac3
Modification date20141222
dbXrefs MIM : 602050
HGNC : HGNC
Ensembl : ENSG00000169750
HPRD : 03629
Vega : OTTHUMG00000178455
ProteinUniProt: P60763
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAC3
BioGPS: 5881
PathwayNCI Pathway Interaction Database: RAC3
KEGG: RAC3
REACTOME: RAC3
Pathway Commons: RAC3
ContextiHOP: RAC3
ligand binding site mutation search in PubMed: RAC3
UCL Cancer Institute: RAC3
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 process11956649
GO:0030031cell projection assembly11956649
GO:0030036actin cytoskeleton organization11956649
GO:0033630positive regulation of cell adhesion mediated by integrin11756406
GO:1900026positive regulation of substrate adhesion-dependent cell spreading11756406


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Ligand binding site mutations for RAC3
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
Y64D65NBLCA1
V36P34LHNSC1
V44V44MSTAD1
E100E100DSTAD1
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 RAC3
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
V44V44M-0.92871419
Y64D65N-0.72814284
V36P34L-0.4787421
E100E100D-0.45294694
(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 RAC3 from PDB

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Differential gene expression and gene-gene network for RAC3
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 RAC3 and the right PPI network was created from samples without mutations in the LBS of RAC3. 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 RAC3
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 RAC3
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 RAC3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE2c2hAE100
GDPGUANOSINE-5'-DIPHOSPHATE2c2hBE100
IIIPeptide ligand (GLU,ILE,SER,LEU,PRO,SER,ASP,PHE,GLU,HIS,THR,ILE,HIS,VAL,GLY,PHE,ASP,ALA,VAL,THR,GLY,GLU,PHE,THR)2qmeAV36 V44 Y64


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Conservation information for LBS of RAC3
Multiple alignments for P60763 in multiple species
LBSAA sequence# speciesSpecies
A13VVGDGAVGKTC4Homo sapiens, Mus musculus, Caenorhabditis elegans, Caenorhabditis elegans
A13TVGDGAVGKTC2Arabidopsis thaliana, Oryza sativa subsp. japonica
A159YLECSALTQRG3Homo sapiens, Mus musculus, Caenorhabditis elegans
A159YLECSSKTQQN1Arabidopsis thaliana
A159YIECSSKTQQN1Oryza sativa subsp. japonica
A159YLECSALTQIG1Caenorhabditis elegans
A42FDNYSANVMVD3Homo sapiens, Mus musculus, Caenorhabditis elegans
A42FDNFSANVVVD2Arabidopsis thaliana, Oryza sativa subsp. japonica
A42FDTYSTNVMVD1Caenorhabditis elegans
C18AVGKTCLLISY3Homo sapiens, Mus musculus, Caenorhabditis elegans
C18AVGKTCMLISY2Arabidopsis thaliana, Oryza sativa subsp. japonica
C18AVGKTCLLLSY1Caenorhabditis elegans
D118VGTKLDLRDDK3Homo sapiens, Arabidopsis thaliana, Mus musculus
D118VGTKADLREDR2Caenorhabditis elegans, Caenorhabditis elegans
D118VGTKLDLREDK1Oryza sativa subsp. japonica
D170LKTVFDEAIRA2Homo sapiens, Mus musculus
D170VKAVFDTAIRV1Arabidopsis thaliana
D170VKSVFDSAIKV1Oryza sativa subsp. japonica
D170LKQVFDEAIRT1Caenorhabditis elegans
D170LKQVFDEAIRA1Caenorhabditis elegans
D38IPTVFDNYSAN3Homo sapiens, Mus musculus, Caenorhabditis elegans
D38VPTVFDNFSAN2Arabidopsis thaliana, Oryza sativa subsp. japonica
D38ILTVFDTYSTN1Caenorhabditis elegans
D47ANVMVDGKPVN2Homo sapiens, Mus musculus
D47ANVVVDGSTVN1Arabidopsis thaliana
D47ANVVVDGNTVN1Oryza sativa subsp. japonica
D47TNVMVDGRPIN1Caenorhabditis elegans
D47ANVMVDGRPIN1Caenorhabditis elegans
E100AKWYPEVRHHC2Homo sapiens, Mus musculus
E100AKWYPEVSHHC2Caenorhabditis elegans, Caenorhabditis elegans
E100KKWLPELKHYA1Arabidopsis thaliana
E100KKWIPELRHYA1Oryza sativa subsp. japonica
E156SVKYLECSALT2Homo sapiens, Mus musculus
E156AVKYLECSALT2Caenorhabditis elegans, Caenorhabditis elegans
E156AVRYLECSSKT1Arabidopsis thaliana
E156AAAYIECSSKT1Oryza sativa subsp. japonica
F28YTTNAFPGEYI4Homo sapiens, Mus musculus, Caenorhabditis elegans, Caenorhabditis elegans
F28YTSNTFPTDYV2Arabidopsis thaliana, Oryza sativa subsp. japonica
F37YIPTVFDNYSA3Homo sapiens, Mus musculus, Caenorhabditis elegans
F37YVPTVFDNFSA2Arabidopsis thaliana, Oryza sativa subsp. japonica
F37YILTVFDTYST1Caenorhabditis elegans
G12VVVGDGAVGKT4Homo sapiens, Mus musculus, Caenorhabditis elegans, Caenorhabditis elegans
G12VTVGDGAVGKT2Arabidopsis thaliana, Oryza sativa subsp. japonica
G15GDGAVGKTCLL4Homo sapiens, Mus musculus, Caenorhabditis elegans, Caenorhabditis elegans
G15GDGAVGKTCML2Arabidopsis thaliana, Oryza sativa subsp. japonica
G60LWDTAGQEDYD3Homo sapiens, Mus musculus, Caenorhabditis elegans
G60LWDTAGQEDYN2Arabidopsis thaliana, Oryza sativa subsp. japonica
G60LWDTAGQDDYD1Caenorhabditis elegans
H103YPEVRHHCPHT2Homo sapiens, Mus musculus
H103YPEVSHHCPNT2Caenorhabditis elegans, Caenorhabditis elegans
H103LPELKHYAPGI1Arabidopsis thaliana
H103IPELRHYAPNV1Oryza sativa subsp. japonica
H104PEVRHHCPHTP2Homo sapiens, Mus musculus
H104PEVSHHCPNTP2Caenorhabditis elegans, Caenorhabditis elegans
H104PELKHYAPGIP1Arabidopsis thaliana
H104PELRHYAPNVP1Oryza sativa subsp. japonica
H107RHHCPHTPILL2Homo sapiens, Mus musculus
H107SHHCPNTPIIL2Caenorhabditis elegans, Caenorhabditis elegans
H107KHYAPGIPIVL1Arabidopsis thaliana
H107RHYAPNVPIVL1Oryza sativa subsp. japonica
K116LLVGTKLDLRD2Homo sapiens, Mus musculus
K116ILVGTKADLRE2Caenorhabditis elegans, Caenorhabditis elegans
K116VLVGTKLDLRD1Arabidopsis thaliana
K116VLVGTKLDLRE1Oryza sativa subsp. japonica
K16DGAVGKTCLLI3Homo sapiens, Mus musculus, Caenorhabditis elegans
K16DGAVGKTCMLI2Arabidopsis thaliana, Oryza sativa subsp. japonica
K16DGAVGKTCLLL1Caenorhabditis elegans
K166TQRGLKTVFDE2Homo sapiens, Mus musculus
K166TQQNVKAVFDT1Arabidopsis thaliana
K166TQQNVKSVFDS1Oryza sativa subsp. japonica
K166TQIGLKQVFDE1Caenorhabditis elegans
K166TQRGLKQVFDE1Caenorhabditis elegans
L117LVGTKLDLRDD3Homo sapiens, Arabidopsis thaliana, Mus musculus
L117LVGTKADLRED2Caenorhabditis elegans, Caenorhabditis elegans
L117LVGTKLDLRED1Oryza sativa subsp. japonica
L119GTKLDLRDDKD2Homo sapiens, Mus musculus
L119GTKADLREDRD2Caenorhabditis elegans, Caenorhabditis elegans
L119GTKLDLRDDKQ1Arabidopsis thaliana
L119GTKLDLREDKQ1Oryza sativa subsp. japonica
L160LECSALTQRGL3Homo sapiens, Mus musculus, Caenorhabditis elegans
L160LECSSKTQQNV1Arabidopsis thaliana
L160IECSSKTQQNV1Oryza sativa subsp. japonica
L160LECSALTQIGL1Caenorhabditis elegans
M45YSANVMVDGKP2Homo sapiens, Mus musculus
M45FSANVVVDGST1Arabidopsis thaliana
M45FSANVVVDGNT1Oryza sativa subsp. japonica
M45YSTNVMVDGRP1Caenorhabditis elegans
M45YSANVMVDGRP1Caenorhabditis elegans
N39PTVFDNYSANV3Homo sapiens, Mus musculus, Caenorhabditis elegans
N39PTVFDNFSANV2Arabidopsis thaliana, Oryza sativa subsp. japonica
N39LTVFDTYSTNV1Caenorhabditis elegans
N43DNYSANVMVDG3Homo sapiens, Mus musculus, Caenorhabditis elegans
N43DNFSANVVVDG2Arabidopsis thaliana, Oryza sativa subsp. japonica
N43DTYSTNVMVDG1Caenorhabditis elegans
P106VRHHCPHTPIL2Homo sapiens, Mus musculus
P106VSHHCPNTPII2Caenorhabditis elegans, Caenorhabditis elegans
P106LKHYAPGIPIV1Arabidopsis thaliana
P106LRHYAPNVPIV1Oryza sativa subsp. japonica
P99RAKWYPEVRHH2Homo sapiens, Mus musculus
P99RAKWYPEVSHH2Caenorhabditis elegans, Caenorhabditis elegans
P99HKKWLPELKHY1Arabidopsis thaliana
P99HKKWIPELRHY1Oryza sativa subsp. japonica
Q61WDTAGQEDYDR3Homo sapiens, Mus musculus, Caenorhabditis elegans
Q61WDTAGQEDYNR2Arabidopsis thaliana, Oryza sativa subsp. japonica
Q61WDTAGQDDYDQ1Caenorhabditis elegans
R120TKLDLRDDKDT2Homo sapiens, Mus musculus
R120TKADLREDRDT2Caenorhabditis elegans, Caenorhabditis elegans
R120TKLDLRDDKQF1Arabidopsis thaliana
R120TKLDLREDKQF1Oryza sativa subsp. japonica
R163SALTQRGLKTV2Homo sapiens, Mus musculus
R163SSKTQQNVKAV1Arabidopsis thaliana
R163SSKTQQNVKSV1Oryza sativa subsp. japonica
R163SALTQIGLKQV1Caenorhabditis elegans
R163SALTQRGLKQV1Caenorhabditis elegans
S158KYLECSALTQR3Homo sapiens, Mus musculus, Caenorhabditis elegans
S158RYLECSSKTQQ1Arabidopsis thaliana
S158AYIECSSKTQQ1Oryza sativa subsp. japonica
S158KYLECSALTQI1Caenorhabditis elegans
S41VFDNYSANVMV3Homo sapiens, Mus musculus, Caenorhabditis elegans
S41VFDNFSANVVV2Arabidopsis thaliana, Oryza sativa subsp. japonica
S41VFDTYSTNVMV1Caenorhabditis elegans
T17GAVGKTCLLIS3Homo sapiens, Mus musculus, Caenorhabditis elegans
T17GAVGKTCMLIS2Arabidopsis thaliana, Oryza sativa subsp. japonica
T17GAVGKTCLLLS1Caenorhabditis elegans
T24LLISYTTNAFP3Homo sapiens, Mus musculus, Caenorhabditis elegans
T24MLISYTSNTFP2Arabidopsis thaliana, Oryza sativa subsp. japonica
T24LLLSYTTNAFP1Caenorhabditis elegans
T25LISYTTNAFPG3Homo sapiens, Mus musculus, Caenorhabditis elegans
T25LISYTSNTFPT2Arabidopsis thaliana, Oryza sativa subsp. japonica
T25LLSYTTNAFPG1Caenorhabditis elegans
V14VGDGAVGKTCL4Homo sapiens, Mus musculus, Caenorhabditis elegans, Caenorhabditis elegans
V14VGDGAVGKTCM2Arabidopsis thaliana, Oryza sativa subsp. japonica
V36EYIPTVFDNYS3Homo sapiens, Mus musculus, Caenorhabditis elegans
V36DYVPTVFDNFS2Arabidopsis thaliana, Oryza sativa subsp. japonica
V36EYILTVFDTYS1Caenorhabditis elegans
V44NYSANVMVDGK2Homo sapiens, Mus musculus
V44NFSANVVVDGS1Arabidopsis thaliana
V44NFSANVVVDGN1Oryza sativa subsp. japonica
V44TYSTNVMVDGR1Caenorhabditis elegans
V44NYSANVMVDGR1Caenorhabditis elegans
V46SANVMVDGKPV2Homo sapiens, Mus musculus
V46SANVVVDGSTV1Arabidopsis thaliana
V46SANVVVDGNTV1Oryza sativa subsp. japonica
V46STNVMVDGRPI1Caenorhabditis elegans
V46SANVMVDGRPI1Caenorhabditis elegans
Y139LAPITYPQGLA2Homo sapiens, Mus musculus
Y139AASITTAQGEE1Arabidopsis thaliana
Y139LAPISTAQGEE1Oryza sativa subsp. japonica
Y139LQPVSHTQGYV1Caenorhabditis elegans
Y139LQPVSQTQGYV1Caenorhabditis elegans
Y23CLLISYTTNAF3Homo sapiens, Mus musculus, Caenorhabditis elegans
Y23CMLISYTSNTF2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y23CLLLSYTTNAF1Caenorhabditis elegans
Y40TVFDNYSANVM3Homo sapiens, Mus musculus, Caenorhabditis elegans
Y40TVFDNFSANVV2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y40TVFDTYSTNVM1Caenorhabditis elegans
Y64AGQEDYDRLRP3Homo sapiens, Mus musculus, Caenorhabditis elegans
Y64AGQEDYNRLRP2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y64AGQDDYDQFRH1Caenorhabditis elegans


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