Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CFAP73 (cilia and flagella associated protein 73)

Identity

Alias_namesCCDC42B
coiled-coil domain containing 42B
Alias_symbol (synonym)MIA2
Other alias
HGNC (Hugo) CFAP73
LocusID (NCBI) 387885
Atlas_Id 77824
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 113149858 and ends at 113159276 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)CFAP73   37100
Cards
Entrez_Gene (NCBI)CFAP73  387885  cilia and flagella associated protein 73
AliasesCCDC42B; MIA2
GeneCards (Weizmann)CFAP73
Ensembl hg19 (Hinxton)ENSG00000186710 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186710 [Gene_View]  chr12:113149858-113159276 [Contig_View]  CFAP73 [Vega]
ICGC DataPortalENSG00000186710
TCGA cBioPortalCFAP73
AceView (NCBI)CFAP73
Genatlas (Paris)CFAP73
WikiGenes387885
SOURCE (Princeton)CFAP73
Genetics Home Reference (NIH)CFAP73
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP73  -     chr12:113149858-113159276 +  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP73  -     12q24.13   [Description]    (hg19-Feb_2009)
EnsemblCFAP73 - 12q24.13 [CytoView hg19]  CFAP73 - 12q24.13 [CytoView hg38]
Mapping of homologs : NCBICFAP73 [Mapview hg19]  CFAP73 [Mapview hg38]
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001144872
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP73
Cluster EST : UnigeneHs.486856 [ NCBI ]
CGAP (NCI)Hs.486856
Alternative Splicing GalleryENSG00000186710
Gene ExpressionCFAP73 [ NCBI-GEO ]   CFAP73 [ EBI - ARRAY_EXPRESS ]   CFAP73 [ SEEK ]   CFAP73 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP73 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)387885
GTEX Portal (Tissue expression)CFAP73
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NFT4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NFT4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NFT4
Splice isoforms : SwissVarA6NFT4
PhosPhoSitePlusA6NFT4
Domains : Interpro (EBI)DUF4200   
Domain families : Pfam (Sanger)DUF4200 (PF13863)   
Domain families : Pfam (NCBI)pfam13863   
Conserved Domain (NCBI)CFAP73
DMDM Disease mutations387885
Blocks (Seattle)CFAP73
SuperfamilyA6NFT4
Human Protein AtlasENSG00000186710
Peptide AtlasA6NFT4
IPIIPI00374450   IPI01022290   
Protein Interaction databases
DIP (DOE-UCLA)A6NFT4
IntAct (EBI)A6NFT4
FunCoupENSG00000186710
BioGRIDCFAP73
STRING (EMBL)CFAP73
ZODIACCFAP73
Ontologies - Pathways
QuickGOA6NFT4
Ontology : AmiGOcilium movement  cytoplasm  motile cilium  inner dynein arm assembly  dynein complex binding  axonemal outer doublet  regulation of microtubule motor activity  
Ontology : EGO-EBIcilium movement  cytoplasm  motile cilium  inner dynein arm assembly  dynein complex binding  axonemal outer doublet  regulation of microtubule motor activity  
NDEx NetworkCFAP73
Atlas of Cancer Signalling NetworkCFAP73
Wikipedia pathwaysCFAP73
Orthology - Evolution
OrthoDB387885
GeneTree (enSembl)ENSG00000186710
Phylogenetic Trees/Animal Genes : TreeFamCFAP73
HOVERGENA6NFT4
HOGENOMA6NFT4
Homologs : HomoloGeneCFAP73
Homology/Alignments : Family Browser (UCSC)CFAP73
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP73 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP73
dbVarCFAP73
ClinVarCFAP73
1000_GenomesCFAP73 
Exome Variant ServerCFAP73
ExAC (Exome Aggregation Consortium)CFAP73 (select the gene name)
Genetic variants : HAPMAP387885
Genomic Variants (DGV)CFAP73 [DGVbeta]
DECIPHERCFAP73 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP73 
Mutations
ICGC Data PortalCFAP73 
TCGA Data PortalCFAP73 
Broad Tumor PortalCFAP73
OASIS PortalCFAP73 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP73
BioMutasearch CFAP73
DgiDB (Drug Gene Interaction Database)CFAP73
DoCM (Curated mutations)CFAP73 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP73 (select a term)
intoGenCFAP73
Cancer3DCFAP73(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCFAP73
Genetic Testing Registry CFAP73
NextProtA6NFT4 [Medical]
TSGene387885
GENETestsCFAP73
Target ValidationCFAP73
Huge Navigator CFAP73 [HugePedia]
snp3D : Map Gene to Disease387885
BioCentury BCIQCFAP73
ClinGenCFAP73
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD387885
Chemical/Pharm GKB GenePA165512456
Clinical trialCFAP73
Miscellaneous
canSAR (ICR)CFAP73 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP73
EVEXCFAP73
GoPubMedCFAP73
iHOPCFAP73
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:43:27 CEST 2017

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