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CFAP53 (cilia and flagella associated protein 53)

Identity

Alias_namesCCDC11
coiled-coil domain containing 11
Alias_symbol (synonym)FLJ32743
Other aliasHTX6
HGNC (Hugo) CFAP53
LocusID (NCBI) 220136
Atlas_Id 61759
Location 18q21.1  [Link to chromosome band 18q21]
Location_base_pair Starts at 50227194 and ends at 50266522 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CFAP53 (18q21.1) / CCDC144CP (17p11.2)MYO5B (18q21.1) / CFAP53 (18q21.1)

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)CFAP53   26530
Cards
Entrez_Gene (NCBI)CFAP53  220136  cilia and flagella associated protein 53
AliasesCCDC11; HTX6
GeneCards (Weizmann)CFAP53
Ensembl hg19 (Hinxton)ENSG00000172361 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172361 [Gene_View]  chr18:50227194-50266522 [Contig_View]  CFAP53 [Vega]
ICGC DataPortalENSG00000172361
TCGA cBioPortalCFAP53
AceView (NCBI)CFAP53
Genatlas (Paris)CFAP53
WikiGenes220136
SOURCE (Princeton)CFAP53
Genetics Home Reference (NIH)CFAP53
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP53  -     chr18:50227194-50266522 -  18q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP53  -     18q21.1   [Description]    (hg19-Feb_2009)
EnsemblCFAP53 - 18q21.1 [CytoView hg19]  CFAP53 - 18q21.1 [CytoView hg38]
Mapping of homologs : NCBICFAP53 [Mapview hg19]  CFAP53 [Mapview hg38]
OMIM614759   614779   
Gene and transcription
Genbank (Entrez)AK057305 AK302114 BC030606
RefSeq transcript (Entrez)NM_145020
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP53
Cluster EST : UnigeneHs.658630 [ NCBI ]
CGAP (NCI)Hs.658630
Alternative Splicing GalleryENSG00000172361
Gene ExpressionCFAP53 [ NCBI-GEO ]   CFAP53 [ EBI - ARRAY_EXPRESS ]   CFAP53 [ SEEK ]   CFAP53 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)220136
GTEX Portal (Tissue expression)CFAP53
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96M91   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96M91  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96M91
Splice isoforms : SwissVarQ96M91
PhosPhoSitePlusQ96M91
Domains : Interpro (EBI)CFAP53   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CFAP53
DMDM Disease mutations220136
Blocks (Seattle)CFAP53
SuperfamilyQ96M91
Human Protein AtlasENSG00000172361
Peptide AtlasQ96M91
HPRD09958
IPIIPI00065428   
Protein Interaction databases
DIP (DOE-UCLA)Q96M91
IntAct (EBI)Q96M91
FunCoupENSG00000172361
BioGRIDCFAP53
STRING (EMBL)CFAP53
ZODIACCFAP53
Ontologies - Pathways
QuickGOQ96M91
Ontology : AmiGOcilium movement  protein binding  cellular_component  cilium  determination of left/right symmetry  cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  
Ontology : EGO-EBIcilium movement  protein binding  cellular_component  cilium  determination of left/right symmetry  cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  
NDEx NetworkCFAP53
Atlas of Cancer Signalling NetworkCFAP53
Wikipedia pathwaysCFAP53
Orthology - Evolution
OrthoDB220136
GeneTree (enSembl)ENSG00000172361
Phylogenetic Trees/Animal Genes : TreeFamCFAP53
HOVERGENQ96M91
HOGENOMQ96M91
Homologs : HomoloGeneCFAP53
Homology/Alignments : Family Browser (UCSC)CFAP53
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP53
dbVarCFAP53
ClinVarCFAP53
1000_GenomesCFAP53 
Exome Variant ServerCFAP53
ExAC (Exome Aggregation Consortium)CFAP53 (select the gene name)
Genetic variants : HAPMAP220136
Genomic Variants (DGV)CFAP53 [DGVbeta]
DECIPHERCFAP53 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP53 
Mutations
ICGC Data PortalCFAP53 
TCGA Data PortalCFAP53 
Broad Tumor PortalCFAP53
OASIS PortalCFAP53 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP53
BioMutasearch CFAP53
DgiDB (Drug Gene Interaction Database)CFAP53
DoCM (Curated mutations)CFAP53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP53 (select a term)
intoGenCFAP53
Cancer3DCFAP53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614759    614779   
Orphanet17142    14774   
MedgenCFAP53
Genetic Testing Registry CFAP53
NextProtQ96M91 [Medical]
TSGene220136
GENETestsCFAP53
Target ValidationCFAP53
Huge Navigator CFAP53 [HugePedia]
snp3D : Map Gene to Disease220136
BioCentury BCIQCFAP53
ClinGenCFAP53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD220136
Chemical/Pharm GKB GenePA134960690
Clinical trialCFAP53
Miscellaneous
canSAR (ICR)CFAP53 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP53
EVEXCFAP53
GoPubMedCFAP53
iHOPCFAP53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:04:41 CEST 2017

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