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CFAP52 (cilia and flagella associated protein 52)

Identity

Alias_namesWDR16
WD repeat domain 16
Alias_symbol (synonym)WDRPUH
FLJ37528
Other alias
HGNC (Hugo) CFAP52
LocusID (NCBI) 146845
Atlas_Id 54911
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 9576627 and ends at 9643461 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CFAP52 (17p13.1) / FAAP100 (17q25.3)CFAP52 (17p13.1) / RALGAPA2 (20p11.23)

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)CFAP52   16053
Cards
Entrez_Gene (NCBI)CFAP52  146845  cilia and flagella associated protein 52
AliasesWDR16; WDRPUH
GeneCards (Weizmann)CFAP52
Ensembl hg19 (Hinxton)ENSG00000166596 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166596 [Gene_View]  chr17:9576627-9643461 [Contig_View]  CFAP52 [Vega]
ICGC DataPortalENSG00000166596
TCGA cBioPortalCFAP52
AceView (NCBI)CFAP52
Genatlas (Paris)CFAP52
WikiGenes146845
SOURCE (Princeton)CFAP52
Genetics Home Reference (NIH)CFAP52
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP52  -     chr17:9576627-9643461 +  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP52  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblCFAP52 - 17p13.1 [CytoView hg19]  CFAP52 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBICFAP52 [Mapview hg19]  CFAP52 [Mapview hg38]
OMIM609804   
Gene and transcription
Genbank (Entrez)AB065281 AI553675 AK074435 AK094847 AK315679
RefSeq transcript (Entrez)NM_001080556 NM_145054
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP52
Cluster EST : UnigeneHs.232270 [ NCBI ]
CGAP (NCI)Hs.232270
Alternative Splicing GalleryENSG00000166596
Gene ExpressionCFAP52 [ NCBI-GEO ]   CFAP52 [ EBI - ARRAY_EXPRESS ]   CFAP52 [ SEEK ]   CFAP52 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146845
GTEX Portal (Tissue expression)CFAP52
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N1V2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N1V2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N1V2
Splice isoforms : SwissVarQ8N1V2
PhosPhoSitePlusQ8N1V2
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)CFAP52    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)CFAP52
DMDM Disease mutations146845
Blocks (Seattle)CFAP52
SuperfamilyQ8N1V2
Human Protein AtlasENSG00000166596
Peptide AtlasQ8N1V2
HPRD14072
IPIIPI00184719   IPI00170961   IPI00745344   
Protein Interaction databases
DIP (DOE-UCLA)Q8N1V2
IntAct (EBI)Q8N1V2
FunCoupENSG00000166596
BioGRIDCFAP52
STRING (EMBL)CFAP52
ZODIACCFAP52
Ontologies - Pathways
QuickGOQ8N1V2
Ontology : AmiGOprotein binding  cytoplasm  cell projection  
Ontology : EGO-EBIprotein binding  cytoplasm  cell projection  
NDEx NetworkCFAP52
Atlas of Cancer Signalling NetworkCFAP52
Wikipedia pathwaysCFAP52
Orthology - Evolution
OrthoDB146845
GeneTree (enSembl)ENSG00000166596
Phylogenetic Trees/Animal Genes : TreeFamCFAP52
HOVERGENQ8N1V2
HOGENOMQ8N1V2
Homologs : HomoloGeneCFAP52
Homology/Alignments : Family Browser (UCSC)CFAP52
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP52
dbVarCFAP52
ClinVarCFAP52
1000_GenomesCFAP52 
Exome Variant ServerCFAP52
ExAC (Exome Aggregation Consortium)CFAP52 (select the gene name)
Genetic variants : HAPMAP146845
Genomic Variants (DGV)CFAP52 [DGVbeta]
DECIPHERCFAP52 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP52 
Mutations
ICGC Data PortalCFAP52 
TCGA Data PortalCFAP52 
Broad Tumor PortalCFAP52
OASIS PortalCFAP52 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP52
BioMutasearch CFAP52
DgiDB (Drug Gene Interaction Database)CFAP52
DoCM (Curated mutations)CFAP52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP52 (select a term)
intoGenCFAP52
Cancer3DCFAP52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609804   
Orphanet14774   
MedgenCFAP52
Genetic Testing Registry CFAP52
NextProtQ8N1V2 [Medical]
TSGene146845
GENETestsCFAP52
Huge Navigator CFAP52 [HugePedia]
snp3D : Map Gene to Disease146845
BioCentury BCIQCFAP52
ClinGenCFAP52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD146845
Chemical/Pharm GKB GenePA38084
Clinical trialCFAP52
Miscellaneous
canSAR (ICR)CFAP52 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP52
EVEXCFAP52
GoPubMedCFAP52
iHOPCFAP52
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 12:10:19 CEST 2017

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