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mutLBSgeneDB |
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| Gene summary for RORA |
 Gene summary |
| Basic gene Info. | Gene symbol | RORA |
| Gene name | RAR-related orphan receptor A | |
| Synonyms | NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA | |
| Cytomap | UCSC genome browser: 15q22.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002943.3, NM_134260.2,NM_134261.2,NM_134262.2, | |
| Description | ROR-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 date | 20141222 | |
| dbXrefs | MIM : 600825 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000069667 | ||
| HPRD : 02896 | ||
| Vega : OTTHUMG00000132769 | ||
| Protein | UniProt: P35398 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RORA | |
| BioGPS: 6095 | ||
| Pathway | NCI Pathway Interaction Database: RORA | |
| KEGG: RORA | ||
| REACTOME: RORA | ||
| Pathway Commons: RORA | ||
| Context | iHOP: RORA | |
| ligand binding site mutation search in PubMed: RORA | ||
| UCL Cancer Institute: RORA | ||
| Assigned class in mutLBSgeneDB | A: 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 ID | GO Term | PubMed ID | GO:0006355 | regulation of transcription, DNA-templated | 9328355 | GO:0030522 | intracellular receptor signaling pathway | 19965867 | GO:0036315 | cellular response to sterol | 19965867 | GO:0045893 | positive regulation of transcription, DNA-templated | 7926749 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 17545671 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I400 | R400K | HNSC | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative 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 |
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| 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) |
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| Phenotype information for RORA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004352 | Autistic Disorder | 2 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB01990 | Cholesterol-Sulfate | Small molecule |  |
| Experimental | DB04540 | Cholesterol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RORA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 4D8 | 4ALPHA-CARBOXY-4BETA-METHYL-ZYMOSTEROL | (3BETA,4ALPHA,5BETA,14BETA)-3-HYDROXY-4-METHYLCHOLESTA- 8,24-DIENE-4-CARBOXYLIC ACID | 4s15 | B | I400 |
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| Conservation information for LBS of RORA |
| Multiple alignments for P35398 in multiple species |
| LBS | AA sequence | # species | Species |
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