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 RORA
Gene summary
Basic gene Info.Gene symbolRORA
Gene nameRAR-related orphan receptor A
CytomapUCSC genome browser: 15q22.2
Type of geneprotein-coding
DescriptionROR-alphanuclear receptor ROR-alphanuclear receptor RZR-alphanuclear receptor subfamily 1 group F member 1retinoic acid receptor-related orphan receptor alpharetinoid-related orphan receptor alphathyroid hormone nuclear receptor alpha variant 4tran
Modification date20141222
dbXrefs MIM : 600825
Ensembl : ENSG00000069667
HPRD : 02896
Vega : OTTHUMG00000132769
ProteinUniProt: P35398
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RORA
BioGPS: 6095
PathwayNCI Pathway Interaction Database: RORA
Pathway Commons: RORA
ContextiHOP: RORA
ligand binding site mutation search in PubMed: RORA
UCL Cancer Institute: RORA
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for RORA.1. "Doulazmi M, Capone F, Frederic F, Bakouche J, Lemaigre-Dubreuil Y, Mariani J. Cerebellar purkinje cell loss in heterozygous rora+/- mice: a longitudinal study.J Neurogenet. 2006 Jan-Jun;20(1-2):1-17. Erratum in: J Neurogenet. 2007 Jan-Jun;21(1-2):73." 16807193

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006355regulation of transcription, DNA-templated9328355
GO:0030522intracellular receptor signaling pathway19965867
GO:0036315cellular response to sterol19965867
GO:0045893positive regulation of transcription, DNA-templated7926749
GO:0045944positive regulation of transcription from RNA polymerase II promoter17545671

Ligand binding site mutations for RORA
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 RORA
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 RORA from PDB

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


Phenotype information for RORA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004352Autistic Disorder2Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

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

Pharmacological information for RORA
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
ExperimentalDB01990Cholesterol-SulfateSmall molecule
ExperimentalDB04540CholesterolSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RORA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RORA
Multiple alignments for P35398 in multiple species
LBSAA sequence# speciesSpecies

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