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mutLBSgeneDB |
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| Gene summary for NR2F1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NR2F1 |
| Gene name | nuclear receptor subfamily 2, group F, member 1 | |
| Synonyms | BBOAS|BBSOAS|COUP-TFI|EAR-3|EAR3|ERBAL3|NR2F2|SVP44|TCFCOUP1|TFCOUP1 | |
| Cytomap | UCSC genome browser: 5q14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005654.5, | |
| Description | COUP 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 date | 20141222 | |
| dbXrefs | MIM : 132890 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000175745 | ||
| HPRD : 00584 | ||
| Vega : OTTHUMG00000119079 | ||
| Protein | UniProt: P10589 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NR2F1 | |
| BioGPS: 7025 | ||
| Pathway | NCI Pathway Interaction Database: NR2F1 | |
| KEGG: NR2F1 | ||
| REACTOME: NR2F1 | ||
| Pathway Commons: NR2F1 | ||
| Context | iHOP: NR2F1 | |
| ligand binding site mutation search in PubMed: NR2F1 | ||
| UCL Cancer Institute: NR2F1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 10644740 |
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| Ligand binding site mutations for NR2F1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C89 | G90R | COAD | 1 | C103 | E104K | LUAD | 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 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 |
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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 | C103 | E104K | -0.83540918 | C89 | G90R | -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) |
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| Phenotype information for NR2F1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1458155 | Breast Neoplasms | 4 | Biomarker |
| umls:C3810363 | BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME | 1 | GeneticVariation |
| umls:C0029927 | Ovarian Cysts | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NR2F1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of NR2F1 |
| Multiple alignments for P10589 in multiple species |
| LBS | AA sequence | # species | Species | C103 | YGQFTCEGCKS | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | C106 | FTCEGCKSFFK | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | C86 | QQHIECVVCGD | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | C89 | IECVVCGDKSS | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus |
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