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 RAB43
Gene summary
Basic gene Info.Gene symbolRAB43
Gene nameRAB43, member RAS oncogene family
CytomapUCSC genome browser: 3q21.3
Type of geneprotein-coding
Descriptionras-related protein Rab-41ras-related protein Rab-43
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000172780
HPRD : 17947
Vega : OTTHUMG00000137364
ProteinUniProt: Q86YS6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAB43
BioGPS: 339122
PathwayNCI Pathway Interaction Database: RAB43
Pathway Commons: RAB43
ContextiHOP: RAB43
ligand binding site mutation search in PubMed: RAB43
UCL Cancer Institute: RAB43
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006184GTP catabolic process24891604

Ligand binding site mutations for RAB43
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 RAB43
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 RAB43 from PDB

Differential gene expression and gene-gene network for RAB43
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 RAB43 and the right PPI network was created from samples without mutations in the LBS of RAB43. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RAB43
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RAB43
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 RAB43 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RAB43
Multiple alignments for Q86YS6 in multiple species
LBSAA sequence# speciesSpecies
A163AIETSAKDSSN3Homo sapiens, Mus musculus, Rattus norvegicus
C33SVGKTCVVQRF3Homo sapiens, Mus musculus, Rattus norvegicus
D134IGNKSDLSELR1Homo sapiens
D134IGNKSDLADFR1Mus musculus
D134IGNKSDLADLR1Rattus norvegicus
G30GDASVGKTCVV3Homo sapiens, Mus musculus, Rattus norvegicus
K132LLIGNKSDLAD2Mus musculus, Rattus norvegicus
K132LLIGNKSDLSE1Homo sapiens
K164IETSAKDSSNV3Homo sapiens, Mus musculus, Rattus norvegicus
K31DASVGKTCVVQ3Homo sapiens, Mus musculus, Rattus norvegicus
L135GNKSDLSELRE1Homo sapiens
L135GNKSDLADFRE1Mus musculus
L135GNKSDLADLRE1Rattus norvegicus
N131QLLIGNKSDLA2Mus musculus, Rattus norvegicus
N131QLLIGNKSDLS1Homo sapiens
S162CAIETSAKDSS3Homo sapiens, Mus musculus, Rattus norvegicus
S28LVGDASVGKTC3Homo sapiens, Mus musculus, Rattus norvegicus
T32ASVGKTCVVQR3Homo sapiens, Mus musculus, Rattus norvegicus
V29VGDASVGKTCV3Homo sapiens, Mus musculus, Rattus norvegicus

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