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CFAP46 (cilia and flagella associated protein 46)

Identity

Alias_namesC10orf123
C10orf124
C10orf93
C10orf92
TTC40
chromosome 10 open reading frame 123
chromosome 10 open reading frame 124
chromosome 10 open reading frame 93
chromosome 10 open reading frame 92
tetratricopeptide repeat domain 40
Alias_symbol (synonym)DKFZp434A1721
bA288G11.4
bA288G11.5
bB137A17.2
FLJ25954
bB137A17.3
Other alias
HGNC (Hugo) CFAP46
LocusID (NCBI) 54777
Atlas_Id 55413
Location 10q26.3  [Link to chromosome band 10q26]
Location_base_pair Starts at 132808392 and ends at 132942585 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CFAP46 (10q26.3) / KSR1 (17q11.1)DNAJB1 (19p13.12) / CFAP46 (10q26.3)INPP5A (10q26.3) / CFAP46 (10q26.3)
MRPS9 (2q12.1) / CFAP46 (10q26.3)SEC23IP (10q26.11) / CFAP46 (10q26.3)

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)CFAP46   25247
Cards
Entrez_Gene (NCBI)CFAP46  54777  cilia and flagella associated protein 46
AliasesC10orf123; C10orf124; C10orf92; C10orf93; 
TTC40; bA288G11.4; bA288G11.5; bB137A17.2; bB137A17.3
GeneCards (Weizmann)CFAP46
Ensembl hg19 (Hinxton)ENSG00000171811 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171811 [Gene_View]  chr10:132808392-132942585 [Contig_View]  CFAP46 [Vega]
ICGC DataPortalENSG00000171811
TCGA cBioPortalCFAP46
AceView (NCBI)CFAP46
Genatlas (Paris)CFAP46
WikiGenes54777
SOURCE (Princeton)CFAP46
Genetics Home Reference (NIH)CFAP46
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP46  -     chr10:132808392-132942585 -  10q26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP46  -     10q26.3   [Description]    (hg19-Feb_2009)
EnsemblCFAP46 - 10q26.3 [CytoView hg19]  CFAP46 - 10q26.3 [CytoView hg38]
Mapping of homologs : NCBICFAP46 [Mapview hg19]  CFAP46 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA813184 AK098820 AK128150 AL122111 BC034223
RefSeq transcript (Entrez)NM_001200049 NM_017609 NM_173572
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFAP46
Cluster EST : UnigeneHs.719815 [ NCBI ]
CGAP (NCI)Hs.719815
Alternative Splicing GalleryENSG00000171811
Gene ExpressionCFAP46 [ NCBI-GEO ]   CFAP46 [ EBI - ARRAY_EXPRESS ]   CFAP46 [ SEEK ]   CFAP46 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP46 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54777
GTEX Portal (Tissue expression)CFAP46
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYW2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYW2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYW2
Splice isoforms : SwissVarQ8IYW2
PhosPhoSitePlusQ8IYW2
Domains : Interpro (EBI)TPR-like_helical_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CFAP46
DMDM Disease mutations54777
Blocks (Seattle)CFAP46
SuperfamilyQ8IYW2
Human Protein AtlasENSG00000171811
Peptide AtlasQ8IYW2
HPRD12596
IPIIPI00217894   IPI01026017   IPI01025698   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYW2
IntAct (EBI)Q8IYW2
FunCoupENSG00000171811
BioGRIDCFAP46
STRING (EMBL)CFAP46
ZODIACCFAP46
Ontologies - Pathways
QuickGOQ8IYW2
Ontology : AmiGOcytoplasm  axoneme  axoneme  axoneme assembly  cilium movement involved in cell motility  
Ontology : EGO-EBIcytoplasm  axoneme  axoneme  axoneme assembly  cilium movement involved in cell motility  
NDEx NetworkCFAP46
Atlas of Cancer Signalling NetworkCFAP46
Wikipedia pathwaysCFAP46
Orthology - Evolution
OrthoDB54777
GeneTree (enSembl)ENSG00000171811
Phylogenetic Trees/Animal Genes : TreeFamCFAP46
HOVERGENQ8IYW2
HOGENOMQ8IYW2
Homologs : HomoloGeneCFAP46
Homology/Alignments : Family Browser (UCSC)CFAP46
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP46 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP46
dbVarCFAP46
ClinVarCFAP46
1000_GenomesCFAP46 
Exome Variant ServerCFAP46
ExAC (Exome Aggregation Consortium)CFAP46 (select the gene name)
Genetic variants : HAPMAP54777
Genomic Variants (DGV)CFAP46 [DGVbeta]
DECIPHERCFAP46 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP46 
Mutations
ICGC Data PortalCFAP46 
TCGA Data PortalCFAP46 
Broad Tumor PortalCFAP46
OASIS PortalCFAP46 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCFAP46
BioMutasearch CFAP46
DgiDB (Drug Gene Interaction Database)CFAP46
DoCM (Curated mutations)CFAP46 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFAP46 (select a term)
intoGenCFAP46
Cancer3DCFAP46(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCFAP46
Genetic Testing Registry CFAP46
NextProtQ8IYW2 [Medical]
TSGene54777
GENETestsCFAP46
Huge Navigator CFAP46 [HugePedia]
snp3D : Map Gene to Disease54777
BioCentury BCIQCFAP46
ClinGenCFAP46
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54777
Chemical/Pharm GKB GenePA134884148
Clinical trialCFAP46
Miscellaneous
canSAR (ICR)CFAP46 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFAP46
EVEXCFAP46
GoPubMedCFAP46
iHOPCFAP46
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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