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RFXAP (regulatory factor X associated protein)

Identity

Alias_namesregulatory factor X-associated protein
Other alias-
HGNC (Hugo) RFXAP
LocusID (NCBI) 5994
Atlas_Id 55873
Location 13q13.3  [Link to chromosome band 13q13]
Location_base_pair Starts at 36819202 and ends at 36829603 bp from pter ( according to hg38-Dec_2013)

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]  chr13:36819202-36829603 [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  -     chr13:36819202-36829603 +  13q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RFXAP  -     13q13.3   [Description]    (hg19-Feb_2009)
EnsemblRFXAP - 13q13.3 [CytoView hg19]  RFXAP - 13q13.3 [CytoView hg38]
Mapping of homologs : NCBIRFXAP [Mapview hg19]  RFXAP [Mapview hg38]
OMIM209920   601861   
Gene and transcription
Genbank (Entrez)AK313912 BC026088 BI823132 DQ891169 DQ893581
RefSeq transcript (Entrez)NM_000538
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RFXAP
Cluster EST : UnigeneHs.24422 [ NCBI ]
CGAP (NCI)Hs.24422
Alternative Splicing GalleryENSG00000133111
Gene ExpressionRFXAP [ NCBI-GEO ]   RFXAP [ EBI - ARRAY_EXPRESS ]   RFXAP [ SEEK ]   RFXAP [ MEM ]
Gene Expression Viewer (FireBrowse)RFXAP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5994
GTEX Portal (Tissue expression)RFXAP
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_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 (SRS)2KW3   
PDB (PDBSum)2KW3   
PDB (IMB)2KW3   
PDB (RSDB)2KW3   
Structural Biology KnowledgeBase2KW3   
SCOP (Structural Classification of Proteins)2KW3   
CATH (Classification of proteins structures)2KW3   
SuperfamilyO00287
Human Protein AtlasENSG00000133111
Peptide AtlasO00287
HPRD03515
IPIIPI00010890   
Protein Interaction databases
DIP (DOE-UCLA)O00287
IntAct (EBI)O00287
FunCoupENSG00000133111
BioGRIDRFXAP
STRING (EMBL)RFXAP
ZODIACRFXAP
Ontologies - Pathways
QuickGOO00287
Ontology : AmiGODNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  nucleus  nuclear speck  positive regulation of transcription, DNA-templated  
Ontology : EGO-EBIDNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  nucleus  nuclear speck  positive regulation of transcription, DNA-templated  
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
HOVERGENO00287
HOGENOMO00287
Homologs : HomoloGeneRFXAP
Homology/Alignments : Family Browser (UCSC)RFXAP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFXAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFXAP
dbVarRFXAP
ClinVarRFXAP
1000_GenomesRFXAP 
Exome Variant ServerRFXAP
ExAC (Exome Aggregation Consortium)RFXAP (select the gene name)
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM209920    601861   
Orphanet3279   
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
Chemical/Protein Interactions : CTD5994
Chemical/Pharm GKB GenePA34358
Clinical trialRFXAP
Miscellaneous
canSAR (ICR)RFXAP (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFXAP
EVEXRFXAP
GoPubMedRFXAP
iHOPRFXAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:12:54 CEST 2017

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