mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 NR2F1
Gene summary
Basic gene Info.Gene symbolNR2F1
Gene namenuclear receptor subfamily 2, group F, member 1
SynonymsBBOAS|BBSOAS|COUP-TFI|EAR-3|EAR3|ERBAL3|NR2F2|SVP44|TCFCOUP1|TFCOUP1
CytomapUCSC genome browser: 5q14
Type of geneprotein-coding
RefGenesNM_005654.5,
DescriptionCOUP transcription factor 1COUP transcription factor ICOUP-TF ICOUP-TF1V-erbA-related protein 3chicken ovalbumin upstream promoter-transcription factor Itranscription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)
Modification date20141222
dbXrefs MIM : 132890
HGNC : HGNC
Ensembl : ENSG00000175745
HPRD : 00584
Vega : OTTHUMG00000119079
ProteinUniProt: P10589
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NR2F1
BioGPS: 7025
PathwayNCI Pathway Interaction Database: NR2F1
KEGG: NR2F1
REACTOME: NR2F1
Pathway Commons: NR2F1
ContextiHOP: NR2F1
ligand binding site mutation search in PubMed: NR2F1
UCL Cancer Institute: NR2F1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000122negative regulation of transcription from RNA polymerase II promoter10644740


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Ligand binding site mutations for NR2F1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C89G90RCOAD1
C103E104KLUAD1
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 NR2F1
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
C103E104K-0.83540918
C89G90R-0.79664316
(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 NR2F1 from PDB

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Differential gene expression and gene-gene network for NR2F1
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 NR2F1 and the right PPI network was created from samples without mutations in the LBS of NR2F1. 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 NR2F1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms4Biomarker
umls:C3810363BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME1GeneticVariation
umls:C0029927Ovarian Cysts1Biomarker

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

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Pharmacological information for NR2F1
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 NR2F1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of NR2F1
Multiple alignments for P10589 in multiple species
LBSAA sequence# speciesSpecies
C103YGQFTCEGCKS4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
C106FTCEGCKSFFK4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
C86QQHIECVVCGD4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
C89IECVVCGDKSS4Homo sapiens, Danio rerio, Bos taurus, Mus musculus


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