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RFXAP (regulatory factor X associated protein)

Identity

Alias (NCBI)-
HGNC (Hugo) RFXAP
HGNC Previous nameregulatory factor X-associated protein
LocusID (NCBI) 5994
Atlas_Id 55873
Location 13q13.3  [Link to chromosome band 13q13]
Location_base_pair Starts at 36819222 and ends at 36829104 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)

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)RFXAP   9988
LRG (Locus Reference Genomic)LRG_103
Cards
Entrez_Gene (NCBI)RFXAP  5994  regulatory factor X associated protein
Aliases
GeneCards (Weizmann)RFXAP
Ensembl hg19 (Hinxton)ENSG00000133111 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133111 [Gene_View]  ENSG00000133111 [Sequence]  chr13:36819222-36829104 [Contig_View]  RFXAP [Vega]
ICGC DataPortalENSG00000133111
TCGA cBioPortalRFXAP
AceView (NCBI)RFXAP
Genatlas (Paris)RFXAP
WikiGenes5994
SOURCE (Princeton)RFXAP
Genetics Home Reference (NIH)RFXAP
Genomic and cartography
GoldenPath hg38 (UCSC)RFXAP  -     chr13:36819222-36829104 +  13q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFXAP  -     13q13.3   [Description]    (hg19-Feb_2009)
GoldenPathRFXAP - 13q13.3 [CytoView hg19]  RFXAP - 13q13.3 [CytoView hg38]
ImmunoBaseENSG00000133111
genome Data Viewer NCBIRFXAP [Mapview hg19]  
OMIM209920   601861   
Gene and transcription
Genbank (Entrez)AK313912 BC026088 BI823132
RefSeq transcript (Entrez)NM_000538
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFXAP
Alternative Splicing GalleryENSG00000133111
Gene ExpressionRFXAP [ NCBI-GEO ]   RFXAP [ EBI - ARRAY_EXPRESS ]   RFXAP [ SEEK ]   RFXAP [ MEM ]
Gene Expression Viewer (FireBrowse)RFXAP [ Firebrowse - Broad ]
GenevisibleExpression of RFXAP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5994
GTEX Portal (Tissue expression)RFXAP
Human Protein AtlasENSG00000133111-RFXAP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00287   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00287  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00287
Splice isoforms : SwissVarO00287
PhosPhoSitePlusO00287
Domains : Interpro (EBI)RFXAP_C_sf    RFXAP_RFXANK-bd   
Domain families : Pfam (Sanger)RFXA_RFXANK_bdg (PF15289)   
Domain families : Pfam (NCBI)pfam15289   
Conserved Domain (NCBI)RFXAP
DMDM Disease mutations5994
Blocks (Seattle)RFXAP
PDB (RSDB)2KW3   
PDB Europe2KW3   
PDB (PDBSum)2KW3   
PDB (IMB)2KW3   
Structural Biology KnowledgeBase2KW3   
SCOP (Structural Classification of Proteins)2KW3   
CATH (Classification of proteins structures)2KW3   
SuperfamilyO00287
Human Protein Atlas [tissue]ENSG00000133111-RFXAP [tissue]
Peptide AtlasO00287
HPRD03515
IPIIPI00010890   
Protein Interaction databases
DIP (DOE-UCLA)O00287
IntAct (EBI)O00287
FunCoupENSG00000133111
BioGRIDRFXAP
STRING (EMBL)RFXAP
ZODIACRFXAP
Ontologies - Pathways
QuickGOO00287
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  DNA binding  transcription coactivator activity  nucleus  transcription factor complex  nuclear speck  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  
Ontology : EGO-EBItranscription regulatory region sequence-specific DNA binding  DNA binding  transcription coactivator activity  nucleus  transcription factor complex  nuclear speck  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  
Pathways : KEGGAntigen processing and presentation    Tuberculosis    Primary immunodeficiency   
NDEx NetworkRFXAP
Atlas of Cancer Signalling NetworkRFXAP
Wikipedia pathwaysRFXAP
Orthology - Evolution
OrthoDB5994
GeneTree (enSembl)ENSG00000133111
Phylogenetic Trees/Animal Genes : TreeFamRFXAP
HOGENOMO00287
Homologs : HomoloGeneRFXAP
Homology/Alignments : Family Browser (UCSC)RFXAP
Gene fusions - Rearrangements
Fusion : QuiverRFXAP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFXAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFXAP
dbVarRFXAP
ClinVarRFXAP
MonarchRFXAP
1000_GenomesRFXAP 
Exome Variant ServerRFXAP
GNOMAD BrowserENSG00000133111
Varsome BrowserRFXAP
Genetic variants : HAPMAP5994
Genomic Variants (DGV)RFXAP [DGVbeta]
DECIPHERRFXAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRFXAP 
Mutations
ICGC Data PortalRFXAP 
TCGA Data PortalRFXAP 
Broad Tumor PortalRFXAP
OASIS PortalRFXAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFXAP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRFXAP
Mutations and Diseases : HGMDRFXAP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch RFXAP
DgiDB (Drug Gene Interaction Database)RFXAP
DoCM (Curated mutations)RFXAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFXAP (select a term)
intoGenRFXAP
Cancer3DRFXAP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM209920    601861   
Orphanet3279   
DisGeNETRFXAP
MedgenRFXAP
Genetic Testing Registry RFXAP
NextProtO00287 [Medical]
TSGene5994
GENETestsRFXAP
Target ValidationRFXAP
Huge Navigator RFXAP [HugePedia]
snp3D : Map Gene to Disease5994
BioCentury BCIQRFXAP
ClinGenRFXAP
Clinical trials, drugs, therapy
Protein Interactions : CTD5994
Pharm GKB GenePA34358
Clinical trialRFXAP
Miscellaneous
canSAR (ICR)RFXAP (select the gene name)
HarmonizomeRFXAP
DataMed IndexRFXAP
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFXAP
EVEXRFXAP
GoPubMedRFXAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:30:08 CEST 2020

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