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 RLBP1
Gene summary
Basic gene Info.Gene symbolRLBP1
Gene nameretinaldehyde binding protein 1
CytomapUCSC genome browser: 15q26
Type of geneprotein-coding
Descriptioncellular retinaldehyde-binding proteincellular retinaldehyde-binding protein-1retinaldehyde-binding protein 1
Modification date20141219
dbXrefs MIM : 180090
Ensembl : ENSG00000140522
HPRD : 01572
Vega : OTTHUMG00000172884
ProteinUniProt: P12271
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RLBP1
BioGPS: 6017
PathwayNCI Pathway Interaction Database: RLBP1
Pathway Commons: RLBP1
ContextiHOP: RLBP1
ligand binding site mutation search in PubMed: RLBP1
UCL Cancer Institute: RLBP1
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 RLBP1
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 RLBP1
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 RLBP1 from PDB

Differential gene expression and gene-gene network for RLBP1
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 RLBP1 and the right PPI network was created from samples without mutations in the LBS of RLBP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RLBP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1405854Retinitis punctata albescens (disorder)11Biomarker, GeneticVariation
umls:C0035334Retinitis Pigmentosa5Biomarker, GeneticVariation
umls:C0311338Fundus Albipunctatus1Biomarker, GeneticVariation
umls:C0015398Eye Diseases, Hereditary1Biomarker

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

Pharmacological information for RLBP1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceutical|vet_approvedDB00162Vitamin ASmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RLBP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
RETRETINAL4cj6AF161 I163 M223

Conservation information for LBS of RLBP1
Multiple alignments for P12271 in multiple species
LBSAA sequence# speciesSpecies
E202GFCIIENFKGF2Homo sapiens, Bos taurus
E202GFCIVENFKGF1Mus musculus
F161RVVMLFNIENW3Homo sapiens, Mus musculus, Bos taurus
F173SQEITFDEILQ1Homo sapiens
F173CEEVTFDEILQ1Mus musculus
F173SEEITFDEILQ1Bos taurus
F204CIIENFKGFTM2Homo sapiens, Bos taurus
F204CIVENFKGFTM1Mus musculus
F240FKAIHFIHQPW2Homo sapiens, Mus musculus
F240FKAIHFIYQPW1Bos taurus
F247HQPWYFTTTYN2Homo sapiens, Mus musculus
F247YQPWYFTTTYN1Bos taurus
I163VMLFNIENWQS1Homo sapiens
I163VMLFNIENWHC1Mus musculus
I163VMLFNIENWDS1Bos taurus
I176ITFDEILQAYC2Homo sapiens, Bos taurus
I176VTFDEILQAYC1Mus musculus
I238ARFKAIHFIHQ2Homo sapiens, Mus musculus
I238ARFKAIHFIYQ1Bos taurus
L220LRTSDLRKMVD1Homo sapiens
L220LRPSDLKKMVD1Mus musculus
L220LRPSDLRKMVD1Bos taurus
L227KMVDMLQDSFP3Homo sapiens, Mus musculus, Bos taurus
L258VVKPFLKSKLL2Homo sapiens, Bos taurus
L258VVKPFLKNKLL1Mus musculus
M223SDLRKMVDMLQ2Homo sapiens, Bos taurus
M223SDLKKMVDMLQ1Mus musculus
T250WYFTTTYNVVK3Homo sapiens, Mus musculus, Bos taurus
V224DLRKMVDMLQD2Homo sapiens, Bos taurus
V224DLKKMVDMLQD1Mus musculus
V254TTYNVVKPFLK3Homo sapiens, Mus musculus, Bos taurus
V266KLLERVFVHGD1Homo sapiens
V266KLLQRVFVHGD1Mus musculus
V266KLLQRVFVHGE1Bos taurus
W166FNIENWQSQEI1Homo sapiens
W166FNIENWHCEEV1Mus musculus
W166FNIENWDSEEI1Bos taurus
Y180EILQAYCFILE2Homo sapiens, Mus musculus
Y180EILQAYCVILE1Bos taurus

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