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RFX1 (regulatory factor X1)

Identity

Alias_namesregulatory factor X
Alias_symbol (synonym)EF-C
Other aliasEFC
RFX
HGNC (Hugo) RFX1
LocusID (NCBI) 5989
Atlas_Id 46019
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 13961530 and ends at 14006322 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
RFX1 (19p13.12) / CCDC107 (9p13.3)RFX1 (19p13.12) / RFX1 (19p13.12)TNPO2 (19p13.2) / RFX1 (19p13.12)
ZSWIM4 (19p13.13) / RFX1 (19p13.12)RFX1 19p13.12 / CCDC107 9p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RFX1   9982
Cards
Entrez_Gene (NCBI)RFX1  5989  regulatory factor X1
AliasesEFC; RFX
GeneCards (Weizmann)RFX1
Ensembl hg19 (Hinxton)ENSG00000132005 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132005 [Gene_View]  chr19:13961530-14006322 [Contig_View]  RFX1 [Vega]
ICGC DataPortalENSG00000132005
TCGA cBioPortalRFX1
AceView (NCBI)RFX1
Genatlas (Paris)RFX1
WikiGenes5989
SOURCE (Princeton)RFX1
Genetics Home Reference (NIH)RFX1
Genomic and cartography
GoldenPath hg38 (UCSC)RFX1  -     chr19:13961530-14006322 -  19p13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFX1  -     19p13.12   [Description]    (hg19-Feb_2009)
EnsemblRFX1 - 19p13.12 [CytoView hg19]  RFX1 - 19p13.12 [CytoView hg38]
Mapping of homologs : NCBIRFX1 [Mapview hg19]  RFX1 [Mapview hg38]
OMIM600006   
Gene and transcription
Genbank (Entrez)A20498 AI917511 AK309824 BC049826 BM557928
RefSeq transcript (Entrez)NM_002918
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFX1
Cluster EST : UnigeneHs.655215 [ NCBI ]
CGAP (NCI)Hs.655215
Alternative Splicing GalleryENSG00000132005
Gene ExpressionRFX1 [ NCBI-GEO ]   RFX1 [ EBI - ARRAY_EXPRESS ]   RFX1 [ SEEK ]   RFX1 [ MEM ]
Gene Expression Viewer (FireBrowse)RFX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5989
GTEX Portal (Tissue expression)RFX1
Human Protein AtlasENSG00000132005-RFX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22670   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22670  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22670
Splice isoforms : SwissVarP22670
PhosPhoSitePlusP22670
Domaine pattern : Prosite (Expaxy)RFX_DBD (PS51526)   
Domains : Interpro (EBI)DNA-bd_RFX    RFX1_trans_act    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)RFX1_trans_act (PF04589)    RFX_DNA_binding (PF02257)   
Domain families : Pfam (NCBI)pfam04589    pfam02257   
Conserved Domain (NCBI)RFX1
DMDM Disease mutations5989
Blocks (Seattle)RFX1
PDB (SRS)1DP7   
PDB (PDBSum)1DP7   
PDB (IMB)1DP7   
PDB (RSDB)1DP7   
Structural Biology KnowledgeBase1DP7   
SCOP (Structural Classification of Proteins)1DP7   
CATH (Classification of proteins structures)1DP7   
SuperfamilyP22670
Human Protein Atlas [tissue]ENSG00000132005-RFX1 [tissue]
Peptide AtlasP22670
HPRD02476
IPIIPI00305337   
Protein Interaction databases
DIP (DOE-UCLA)P22670
IntAct (EBI)P22670
FunCoupENSG00000132005
BioGRIDRFX1
STRING (EMBL)RFX1
ZODIACRFX1
Ontologies - Pathways
QuickGOP22670
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  immune response  intracellular membrane-bounded organelle  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  immune response  intracellular membrane-bounded organelle  
NDEx NetworkRFX1
Atlas of Cancer Signalling NetworkRFX1
Wikipedia pathwaysRFX1
Orthology - Evolution
OrthoDB5989
GeneTree (enSembl)ENSG00000132005
Phylogenetic Trees/Animal Genes : TreeFamRFX1
HOVERGENP22670
HOGENOMP22670
Homologs : HomoloGeneRFX1
Homology/Alignments : Family Browser (UCSC)RFX1
Gene fusions - Rearrangements
Fusion : MitelmanRFX1/CCDC107 [19p13.12/9p13.3]  
Fusion: TCGA_MDACCRFX1 19p13.12 CCDC107 9p13.3 OV
Tumor Fusion PortalRFX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFX1
dbVarRFX1
ClinVarRFX1
1000_GenomesRFX1 
Exome Variant ServerRFX1
ExAC (Exome Aggregation Consortium)ENSG00000132005
GNOMAD BrowserENSG00000132005
Genetic variants : HAPMAP5989
Genomic Variants (DGV)RFX1 [DGVbeta]
DECIPHERRFX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRFX1 
Mutations
ICGC Data PortalRFX1 
TCGA Data PortalRFX1 
Broad Tumor PortalRFX1
OASIS PortalRFX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRFX1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RFX1
DgiDB (Drug Gene Interaction Database)RFX1
DoCM (Curated mutations)RFX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFX1 (select a term)
intoGenRFX1
Cancer3DRFX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600006   
Orphanet
DisGeNETRFX1
MedgenRFX1
Genetic Testing Registry RFX1
NextProtP22670 [Medical]
TSGene5989
GENETestsRFX1
Target ValidationRFX1
Huge Navigator RFX1 [HugePedia]
snp3D : Map Gene to Disease5989
BioCentury BCIQRFX1
ClinGenRFX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5989
Chemical/Pharm GKB GenePA34352
Clinical trialRFX1
Miscellaneous
canSAR (ICR)RFX1 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFX1
EVEXRFX1
GoPubMedRFX1
iHOPRFX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:32:13 CET 2017

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