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 RAB18
Gene summary
Basic gene Info.Gene symbolRAB18
Gene nameRAB18, member RAS oncogene family
SynonymsRAB18LI1|WARBM3
CytomapUCSC genome browser: 10p12.1
Type of geneprotein-coding
RefGenesNM_001256410.1,
NM_001256411.1,NM_001256412.1,NM_001256415.1,NM_021252.4,
NR_046172.1,
DescriptionRAB18 small GTPaseras-related protein Rab-18
Modification date20141207
dbXrefs MIM : 602207
HGNC : HGNC
Ensembl : ENSG00000099246
HPRD : 03731
Vega : OTTHUMG00000017861
ProteinUniProt: Q9NP72
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAB18
BioGPS: 22931
PathwayNCI Pathway Interaction Database: RAB18
KEGG: RAB18
REACTOME: RAB18
Pathway Commons: RAB18
ContextiHOP: RAB18
ligand binding site mutation search in PubMed: RAB18
UCL Cancer Institute: RAB18
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 RAB18
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
F33T32RBRCA1
K123K123RCOAD1
G66E68DUCEC1
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 RAB18
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
F33T32R-1.1479226
G66E68D-0.5845218
K123K123R-0.083418872
(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 RAB18 from PDB

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Differential gene expression and gene-gene network for RAB18
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 RAB18 and the right PPI network was created from samples without mutations in the LBS of RAB18. 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 RAB18
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3280203WARBURG MICRO SYNDROME 31GeneticVariation

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

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Pharmacological information for RAB18
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 RAB18 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER1x3sAF33 G66 K123


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Conservation information for LBS of RAB18
Multiple alignments for Q9NP72 in multiple species
LBSAA sequence# speciesSpecies
A152FIEASAKTCDG4Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus
A152FLECSAKTRVN1Arabidopsis thaliana
A152FLECSARTRQN1Arabidopsis thaliana
A152FHECSARTREN1Arabidopsis thaliana
A152FIEASAKTKEG1Caenorhabditis elegans
A152FIEASAKTRDG1Danio rerio
A39DPELAATIGVD5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
A39E-DLAPTIGVD2Arabidopsis thaliana, Arabidopsis thaliana
A39D-DLSPTIGVD1Arabidopsis thaliana
A39DPEQAATIGVD1Caenorhabditis elegans
D125VGNKIDKEN-R4Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus
D125VGNKVDRESER2Arabidopsis thaliana, Arabidopsis thaliana
D125VGNKVDKESER1Arabidopsis thaliana
D125VANKIDMPN-R1Caenorhabditis elegans
D125VGNKIDKDN-R1Danio rerio
D34TDDTFDPELAA5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
D34ISSSVE-DLAP2Arabidopsis thaliana, Arabidopsis thaliana
D34TSNTFD-DLSP1Arabidopsis thaliana
D34VDDVFDPEQAA1Caenorhabditis elegans
F33FTDDTFDPELA5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
F33FISSSVE-DLA2Arabidopsis thaliana, Arabidopsis thaliana
F33FTSNTFD-DLS1Arabidopsis thaliana
F33FVDDVFDPEQA1Caenorhabditis elegans
G18IIGESGVGKSS6Homo sapiens, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
G18LIGDSGVGKSS3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G20GESGVGKSSLL5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
G20GDSGVGKSSLL3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G20GESGVGKSSLM1Caenorhabditis elegans
G66IWDTAGQERFR8Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
G66IWDTAGQEKFR1Arabidopsis thaliana
K123MLVGNKIDKEN4Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus
K123MLVGNKVDRES2Arabidopsis thaliana, Arabidopsis thaliana
K123MLVGNKVDKES1Arabidopsis thaliana
K123MMVANKIDMPN1Caenorhabditis elegans
K123MLVGNKIDKDN1Danio rerio
K126GNKIDKEN-RE4Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus
K126GNKVDKESERA1Arabidopsis thaliana
K126GNKVDRESERG1Arabidopsis thaliana
K126GNKVDRESERK1Arabidopsis thaliana
K126ANKIDMPN-RV1Caenorhabditis elegans
K126GNKIDKDN-RE1Danio rerio
K153IEASAKTCDGV4Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus
K153LECSAKTRVNV1Arabidopsis thaliana
K153LECSARTRQNV1Arabidopsis thaliana
K153HECSARTRENV1Arabidopsis thaliana
K153IEASAKTKEGV1Caenorhabditis elegans
K153IEASAKTRDGV1Danio rerio
K21ESGVGKSSLLL5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
K21DSGVGKSSLLL2Arabidopsis thaliana, Arabidopsis thaliana
K21DSGVGKSSLLV1Arabidopsis thaliana
K21ESGVGKSSLML1Caenorhabditis elegans
N122NMLVGNKIDKE3Homo sapiens, Bos taurus, Rattus norvegicus
N122KMLVGNKVDKE1Arabidopsis thaliana
N122RMLVGNKVDRE1Arabidopsis thaliana
N122KMLVGNKVDRE1Arabidopsis thaliana
N122KMMVANKIDMP1Caenorhabditis elegans
N122KMLVGNKIDKD1Danio rerio
N122KMLVGNKIDKE1Gallus gallus
P35DDTFDPELAAT5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
P35SSSVE-DLAPT2Arabidopsis thaliana, Arabidopsis thaliana
P35SNTFD-DLSPT1Arabidopsis thaliana
P35DDVFDPEQAAT1Caenorhabditis elegans
S151LFIEASAKTCD4Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus
S151LFLECSAKTRV1Arabidopsis thaliana
S151MFLECSARTRQ1Arabidopsis thaliana
S151LFHECSARTRE1Arabidopsis thaliana
S151LFIEASAKTKE1Caenorhabditis elegans
S151LFIEASAKTRD1Danio rerio
S17LIIGESGVGKS6Homo sapiens, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
S17LLIGDSGVGKS3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
S22SGVGKSSLLLR5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
S22SGVGKSSLLLS2Arabidopsis thaliana, Arabidopsis thaliana
S22SGVGKSSLLVS1Arabidopsis thaliana
S22SGVGKSSLMLR1Caenorhabditis elegans
S23GVGKSSLLLRF5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
S23GVGKSSLLLSF2Arabidopsis thaliana, Arabidopsis thaliana
S23GVGKSSLLVSF1Arabidopsis thaliana
S23GVGKSSLMLRF1Caenorhabditis elegans
T40PELAATIGVDF5Homo sapiens, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
T40-DLAPTIGVDF2Arabidopsis thaliana, Arabidopsis thaliana
T40-DLSPTIGVDF1Arabidopsis thaliana
T40PEQAATIGVDF1Caenorhabditis elegans
V19IGESGVGKSSL6Homo sapiens, Caenorhabditis elegans, Danio rerio, Gallus gallus, Bos taurus, Rattus norvegicus
V19IGDSGVGKSSL3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana


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