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 RAB30
Gene summary
Basic gene Info.Gene symbolRAB30
Gene nameRAB30, member RAS oncogene family
CytomapUCSC genome browser: 11q12-q14
Type of geneprotein-coding
Descriptionras-related protein Rab-30
Modification date20141207
dbXrefs MIM : 605693
Ensembl : ENSG00000137502
HPRD : 05750
Vega : OTTHUMG00000166973
ProteinUniProt: Q15771
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAB30
BioGPS: 27314
PathwayNCI Pathway Interaction Database: RAB30
Pathway Commons: RAB30
ContextiHOP: RAB30
ligand binding site mutation search in PubMed: RAB30
UCL Cancer Institute: RAB30
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for RAB30
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 RAB30
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 RAB30 from PDB

Differential gene expression and gene-gene network for RAB30
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 RAB30 and the right PPI network was created from samples without mutations in the LBS of RAB30. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RAB30
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for RAB30
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 RAB30 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RAB30
Multiple alignments for Q15771 in multiple species
LBSAA sequence# speciesSpecies
A153YLETSAKESDN3Homo sapiens, Bos taurus, Mus musculus
A18VLIGNAGVGKT3Homo sapiens, Bos taurus, Mus musculus
A40PPGQGATIGVD3Homo sapiens, Bos taurus, Mus musculus
C24GVGKTCLVRRF3Homo sapiens, Bos taurus, Mus musculus
D125VGNKIDLAERR3Homo sapiens, Bos taurus, Mus musculus
F34FTQGLFPPGQG3Homo sapiens, Bos taurus, Mus musculus
G19LIGNAGVGKTC3Homo sapiens, Bos taurus, Mus musculus
G21GNAGVGKTCLV3Homo sapiens, Bos taurus, Mus musculus
G67IWDTAGQERFR3Homo sapiens, Bos taurus, Mus musculus
K123VLVGNKIDLAE3Homo sapiens, Bos taurus, Mus musculus
K154LETSAKESDNV3Homo sapiens, Bos taurus, Mus musculus
K22NAGVGKTCLVR3Homo sapiens, Bos taurus, Mus musculus
L126GNKIDLAERRE3Homo sapiens, Bos taurus, Mus musculus
N122TVLVGNKIDLA3Homo sapiens, Bos taurus, Mus musculus
Q38LFPPGQGATIG3Homo sapiens, Bos taurus, Mus musculus
S152YYLETSAKESD3Homo sapiens, Bos taurus, Mus musculus
T23AGVGKTCLVRR3Homo sapiens, Bos taurus, Mus musculus
T41PGQGATIGVDF3Homo sapiens, Bos taurus, Mus musculus
V20IGNAGVGKTCL3Homo sapiens, Bos taurus, Mus musculus

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