Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CFAP44 (cilia and flagella associated protein 44)

Identity

Alias_namesWDR52
WD repeat domain 52
Alias_symbol (synonym)FLJ11142
Other aliasSPGF20
HGNC (Hugo) CFAP44
LocusID (NCBI) 55779
Atlas_Id 61756
Location 3q13.2  [Link to chromosome band 3q13]
Location_base_pair Starts at 113286930 and ends at 113441514 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)
CFAP44 (3q13.2) / TGFBR2 (3p24.1)

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)CFAP44   25631
Cards
Entrez_Gene (NCBI)CFAP44  55779  cilia and flagella associated protein 44
AliasesSPGF20; WDR52
GeneCards (Weizmann)CFAP44
Ensembl hg19 (Hinxton)ENSG00000206530 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000206530 [Gene_View]  ENSG00000206530 [Sequence]  chr3:113286930-113441514 [Contig_View]  CFAP44 [Vega]
ICGC DataPortalENSG00000206530
TCGA cBioPortalCFAP44
AceView (NCBI)CFAP44
Genatlas (Paris)CFAP44
WikiGenes55779
SOURCE (Princeton)CFAP44
Genetics Home Reference (NIH)CFAP44
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP44  -     chr3:113286930-113441514 -  3q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP44  -     3q13.2   [Description]    (hg19-Feb_2009)
GoldenPathCFAP44 - 3q13.2 [CytoView hg19]  CFAP44 - 3q13.2 [CytoView hg38]
ImmunoBaseENSG00000206530
Mapping of homologs : NCBICFAP44 [Mapview hg19]  CFAP44 [Mapview hg38]
OMIM617559   617593   
Gene and transcription
Genbank (Entrez)AK002004 AK056472 AK094398 AL133606 BC016799
RefSeq transcript (Entrez)NM_001164496 NM_018338
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP44
Cluster EST : UnigeneHs.584936 [ NCBI ]
CGAP (NCI)Hs.584936
Alternative Splicing GalleryENSG00000206530
Gene ExpressionCFAP44 [ NCBI-GEO ]   CFAP44 [ EBI - ARRAY_EXPRESS ]   CFAP44 [ SEEK ]   CFAP44 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP44 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55779
GTEX Portal (Tissue expression)CFAP44
Human Protein AtlasENSG00000206530-CFAP44 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MT7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96MT7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MT7
Splice isoforms : SwissVarQ96MT7
PhosPhoSitePlusQ96MT7
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)CFAP44
DMDM Disease mutations55779
Blocks (Seattle)CFAP44
SuperfamilyQ96MT7
Human Protein Atlas [tissue]ENSG00000206530-CFAP44 [tissue]
Peptide AtlasQ96MT7
HPRD07734
IPIIPI00043370   IPI00747180   IPI01008969   IPI00873609   IPI00946145   IPI00945966   IPI00945790   IPI00945009   IPI00945437   IPI00945272   
Protein Interaction databases
DIP (DOE-UCLA)Q96MT7
IntAct (EBI)Q96MT7
FunCoupENSG00000206530
BioGRIDCFAP44
STRING (EMBL)CFAP44
ZODIACCFAP44
Ontologies - Pathways
QuickGOQ96MT7
Ontology : AmiGOaxoneme  sperm axoneme assembly  sperm axoneme assembly  motile cilium  cilium assembly  cilium-dependent cell motility  
Ontology : EGO-EBIaxoneme  sperm axoneme assembly  sperm axoneme assembly  motile cilium  cilium assembly  cilium-dependent cell motility  
NDEx NetworkCFAP44
Atlas of Cancer Signalling NetworkCFAP44
Wikipedia pathwaysCFAP44
Orthology - Evolution
OrthoDB55779
GeneTree (enSembl)ENSG00000206530
Phylogenetic Trees/Animal Genes : TreeFamCFAP44
HOGENOMQ96MT7
Homologs : HomoloGeneCFAP44
Homology/Alignments : Family Browser (UCSC)CFAP44
Gene fusions - Rearrangements
Fusion : QuiverCFAP44
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP44 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP44
dbVarCFAP44
ClinVarCFAP44
1000_GenomesCFAP44 
Exome Variant ServerCFAP44
ExAC (Exome Aggregation Consortium)ENSG00000206530
GNOMAD BrowserENSG00000206530
Varsome BrowserCFAP44
Genetic variants : HAPMAP55779
Genomic Variants (DGV)CFAP44 [DGVbeta]
DECIPHERCFAP44 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP44 
Mutations
ICGC Data PortalCFAP44 
TCGA Data PortalCFAP44 
Broad Tumor PortalCFAP44
OASIS PortalCFAP44 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP44
BioMutasearch CFAP44
DgiDB (Drug Gene Interaction Database)CFAP44
DoCM (Curated mutations)CFAP44 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP44 (select a term)
intoGenCFAP44
Cancer3DCFAP44(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617559    617593   
Orphanet
DisGeNETCFAP44
MedgenCFAP44
Genetic Testing Registry CFAP44
NextProtQ96MT7 [Medical]
TSGene55779
GENETestsCFAP44
Target ValidationCFAP44
Huge Navigator CFAP44 [HugePedia]
snp3D : Map Gene to Disease55779
BioCentury BCIQCFAP44
ClinGenCFAP44
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55779
Chemical/Pharm GKB GenePA134928828
Clinical trialCFAP44
Miscellaneous
canSAR (ICR)CFAP44 (select the gene name)
DataMed IndexCFAP44
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP44
EVEXCFAP44
GoPubMedCFAP44
iHOPCFAP44
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:23:45 CEST 2019
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