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RFX4 (regulatory factor X4)

Identity

Alias_namesregulatory factor X, 4 (influences HLA class II expression)
Other aliasNYD-SP10
HGNC (Hugo) RFX4
LocusID (NCBI) 5992
Atlas_Id 72602
Location 12q23.3  [Link to chromosome band 12q23]
Location_base_pair Starts at 106601137 and ends at 106762804 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHST11 (12q23.3) / RFX4 (12q23.3)RIC8B (12q23.3) / RFX4 (12q23.3)TMEM263 (12q23.3) / RFX4 (12q23.3)
RIC8B RFX4C12orf23 RFX4

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)RFX4   9985
Cards
Entrez_Gene (NCBI)RFX4  5992  regulatory factor X4
AliasesNYD-SP10
GeneCards (Weizmann)RFX4
Ensembl hg19 (Hinxton)ENSG00000111783 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111783 [Gene_View]  chr12:106601137-106762804 [Contig_View]  RFX4 [Vega]
ICGC DataPortalENSG00000111783
TCGA cBioPortalRFX4
AceView (NCBI)RFX4
Genatlas (Paris)RFX4
WikiGenes5992
SOURCE (Princeton)RFX4
Genetics Home Reference (NIH)RFX4
Genomic and cartography
GoldenPath hg38 (UCSC)RFX4  -     chr12:106601137-106762804 +  12q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFX4  -     12q23.3   [Description]    (hg19-Feb_2009)
EnsemblRFX4 - 12q23.3 [CytoView hg19]  RFX4 - 12q23.3 [CytoView hg38]
Mapping of homologs : NCBIRFX4 [Mapview hg19]  RFX4 [Mapview hg38]
OMIM603958   
Gene and transcription
Genbank (Entrez)AB044245 AB095365 AB095366 AB195784 AB195785
RefSeq transcript (Entrez)NM_001206691 NM_002920 NM_032491 NM_213594
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFX4
Cluster EST : UnigeneHs.388827 [ NCBI ]
CGAP (NCI)Hs.388827
Alternative Splicing GalleryENSG00000111783
Gene ExpressionRFX4 [ NCBI-GEO ]   RFX4 [ EBI - ARRAY_EXPRESS ]   RFX4 [ SEEK ]   RFX4 [ MEM ]
Gene Expression Viewer (FireBrowse)RFX4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5992
GTEX Portal (Tissue expression)RFX4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ33E94   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ33E94  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ33E94
Splice isoforms : SwissVarQ33E94
PhosPhoSitePlusQ33E94
Domaine pattern : Prosite (Expaxy)RFX_DBD (PS51526)   
Domains : Interpro (EBI)DNA-bd_RFX    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)RFX_DNA_binding (PF02257)   
Domain families : Pfam (NCBI)pfam02257   
Conserved Domain (NCBI)RFX4
DMDM Disease mutations5992
Blocks (Seattle)RFX4
SuperfamilyQ33E94
Human Protein AtlasENSG00000111783
Peptide AtlasQ33E94
HPRD04905
IPIIPI00878891   IPI00419901   IPI00719141   IPI00165990   IPI01022400   IPI01020994   IPI01020778   IPI01023053   IPI00910894   
Protein Interaction databases
DIP (DOE-UCLA)Q33E94
IntAct (EBI)Q33E94
FunCoupENSG00000111783
BioGRIDRFX4
STRING (EMBL)RFX4
ZODIACRFX4
Ontologies - Pathways
QuickGOQ33E94
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  chromatin binding  protein binding  nucleus  transcription from RNA polymerase II promoter  dorsal spinal cord development  telencephalon development  cerebellar cortex morphogenesis  negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning  midbrain development  positive regulation of transcription from RNA polymerase II promoter  cilium assembly  regulation of protein processing  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  chromatin binding  protein binding  nucleus  transcription from RNA polymerase II promoter  dorsal spinal cord development  telencephalon development  cerebellar cortex morphogenesis  negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning  midbrain development  positive regulation of transcription from RNA polymerase II promoter  cilium assembly  regulation of protein processing  
NDEx NetworkRFX4
Atlas of Cancer Signalling NetworkRFX4
Wikipedia pathwaysRFX4
Orthology - Evolution
OrthoDB5992
GeneTree (enSembl)ENSG00000111783
Phylogenetic Trees/Animal Genes : TreeFamRFX4
HOVERGENQ33E94
HOGENOMQ33E94
Homologs : HomoloGeneRFX4
Homology/Alignments : Family Browser (UCSC)RFX4
Gene fusions - Rearrangements
Fusion: TCGARIC8B RFX4
Fusion: TCGAC12orf23 RFX4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFX4
dbVarRFX4
ClinVarRFX4
1000_GenomesRFX4 
Exome Variant ServerRFX4
ExAC (Exome Aggregation Consortium)RFX4 (select the gene name)
Genetic variants : HAPMAP5992
Genomic Variants (DGV)RFX4 [DGVbeta]
DECIPHERRFX4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRFX4 
Mutations
ICGC Data PortalRFX4 
TCGA Data PortalRFX4 
Broad Tumor PortalRFX4
OASIS PortalRFX4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFX4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRFX4
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 RFX4
DgiDB (Drug Gene Interaction Database)RFX4
DoCM (Curated mutations)RFX4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFX4 (select a term)
intoGenRFX4
Cancer3DRFX4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603958   
Orphanet
MedgenRFX4
Genetic Testing Registry RFX4
NextProtQ33E94 [Medical]
TSGene5992
GENETestsRFX4
Huge Navigator RFX4 [HugePedia]
snp3D : Map Gene to Disease5992
BioCentury BCIQRFX4
ClinGenRFX4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5992
Chemical/Pharm GKB GenePA34355
Clinical trialRFX4
Miscellaneous
canSAR (ICR)RFX4 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFX4
EVEXRFX4
GoPubMedRFX4
iHOPRFX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:50:52 CEST 2017

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