Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CFAP73 (cilia and flagella associated protein 73)

Identity

Alias (NCBI)CCDC42B
MIA2
HGNC (Hugo) CFAP73
HGNC Alias symbMIA2
HGNC Previous nameCCDC42B
HGNC Previous namecoiled-coil domain containing 42B
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)
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)CFAP73   37100
Cards
Entrez_Gene (NCBI)CFAP73    cilia and flagella associated protein 73
AliasesCCDC42B; MIA2
GeneCards (Weizmann)CFAP73
Ensembl hg19 (Hinxton)ENSG00000186710 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186710 [Gene_View]  ENSG00000186710 [Sequence]  chr12:113149858-113159276 [Contig_View]  CFAP73 [Vega]
ICGC DataPortalENSG00000186710
TCGA cBioPortalCFAP73
AceView (NCBI)CFAP73
Genatlas (Paris)CFAP73
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)
GoldenPathCFAP73 - 12q24.13 [CytoView hg19]  CFAP73 - 12q24.13 [CytoView hg38]
ImmunoBaseENSG00000186710
genome Data Viewer NCBICFAP73 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)BM975869 DN831823 EG327787
RefSeq transcript (Entrez)NM_001144872
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP73
Alternative Splicing GalleryENSG00000186710
Gene ExpressionCFAP73 [ NCBI-GEO ]   CFAP73 [ EBI - ARRAY_EXPRESS ]   CFAP73 [ SEEK ]   CFAP73 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP73 [ Firebrowse - Broad ]
GenevisibleExpression of CFAP73 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)387885
GTEX Portal (Tissue expression)CFAP73
Human Protein AtlasENSG00000186710-CFAP73 [pathology]   [cell]   [tissue]
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
Blocks (Seattle)CFAP73
SuperfamilyA6NFT4
Human Protein Atlas [tissue]ENSG00000186710-CFAP73 [tissue]
Peptide AtlasA6NFT4
IPIIPI00374450   IPI01022290   
Protein Interaction databases
DIP (DOE-UCLA)A6NFT4
IntAct (EBI)A6NFT4
BioGRIDCFAP73
STRING (EMBL)CFAP73
ZODIACCFAP73
Ontologies - Pathways
QuickGOA6NFT4
Ontology : AmiGOcilium movement  motile cilium  inner dynein arm assembly  dynein complex binding  axonemal outer doublet  regulation of microtubule motor activity  
Ontology : EGO-EBIcilium movement  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
HOGENOMA6NFT4
Homologs : HomoloGeneCFAP73
Homology/Alignments : Family Browser (UCSC)CFAP73
Gene fusions - Rearrangements
Fusion : QuiverCFAP73
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP73 [hg38]
dbVarCFAP73
ClinVarCFAP73
MonarchCFAP73
1000_GenomesCFAP73 
Exome Variant ServerCFAP73
GNOMAD BrowserENSG00000186710
Varsome BrowserCFAP73
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]
Somatic Mutations in Cancer : COSMICCFAP73  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCFAP73
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETCFAP73
MedgenCFAP73
Genetic Testing Registry CFAP73
NextProtA6NFT4 [Medical]
GENETestsCFAP73
Target ValidationCFAP73
Huge Navigator CFAP73 [HugePedia]
ClinGenCFAP73
Clinical trials, drugs, therapy
MyCancerGenomeCFAP73
Protein Interactions : CTD
Pharm GKB GenePA165512456
Clinical trialCFAP73
Miscellaneous
canSAR (ICR)CFAP73 (select the gene name)
HarmonizomeCFAP73
DataMed IndexCFAP73
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP73
EVEXCFAP73
GoPubMedCFAP73
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:49:48 CET 2020
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