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CFAP46 (cilia and flagella associated protein 46)

Identity

Alias (NCBI)C10orf123
C10orf124
C10orf92
C10orf93
TTC40
bA288G11.4
bA288G11.5
bB137A17.2
bB137A17.3
HGNC (Hugo) CFAP46
HGNC Alias symbDKFZp434A1721
bA288G11.4
bA288G11.5
bB137A17.2
FLJ25954
bB137A17.3
HGNC Previous nameC10orf123
 C10orf124
 C10orf93
 C10orf92
 TTC40
HGNC Previous namechromosome 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
LocusID (NCBI) 54777
Atlas_Id 55413
Location 10q26.3  [Link to chromosome band 10q26]
Location_base_pair Starts at 132808392 and ends at 132942570 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;17)(q26;q22) CFAP46/MSI2


External links

 

Nomenclature
HGNC (Hugo)CFAP46   25247
Cards
Entrez_Gene (NCBI)CFAP46    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]  ENSG00000171811 [Sequence]  chr10:132808392-132942570 [Contig_View]  CFAP46 [Vega]
ICGC DataPortalENSG00000171811
TCGA cBioPortalCFAP46
AceView (NCBI)CFAP46
Genatlas (Paris)CFAP46
SOURCE (Princeton)CFAP46
Genetics Home Reference (NIH)CFAP46
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP46  -     chr10:132808392-132942570 -  10q26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP46  -     10q26.3   [Description]    (hg19-Feb_2009)
GoldenPathCFAP46 - 10q26.3 [CytoView hg19]  CFAP46 - 10q26.3 [CytoView hg38]
ImmunoBaseENSG00000171811
Genome Data Viewer NCBICFAP46 [Mapview hg19]  
OMIM618543   
Gene and transcription
Genbank (Entrez)AA813184 AK098820 AK128150 AL122111 BC034223
RefSeq transcript (Entrez)NM_001200049 NM_017609 NM_173572
Consensus coding sequences : CCDS (NCBI)CFAP46
Gene ExpressionCFAP46 [ NCBI-GEO ]   CFAP46 [ EBI - ARRAY_EXPRESS ]   CFAP46 [ SEEK ]   CFAP46 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP46 [ Firebrowse - Broad ]
GenevisibleExpression of CFAP46 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54777
GTEX Portal (Tissue expression)CFAP46
Human Protein AtlasENSG00000171811-CFAP46 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8IYW2
Domains : Interpro (EBI)CFAP46   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CFAP46
SuperfamilyQ8IYW2
AlphaFold pdb e-kbQ8IYW2   
Human Protein Atlas [tissue]ENSG00000171811-CFAP46 [tissue]
HPRD12596
Protein Interaction databases
DIP (DOE-UCLA)Q8IYW2
IntAct (EBI)Q8IYW2
BioGRIDCFAP46
STRING (EMBL)CFAP46
ZODIACCFAP46
Ontologies - Pathways
QuickGOQ8IYW2
Ontology : AmiGOaxoneme  axoneme assembly  cilium movement involved in cell motility  
Ontology : EGO-EBIaxoneme  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
Homologs : HomoloGeneCFAP46
Homology/Alignments : Family Browser (UCSC)CFAP46
Gene fusions - Rearrangements
Fusion : QuiverCFAP46
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP46 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP46
dbVarCFAP46
ClinVarCFAP46
MonarchCFAP46
1000_GenomesCFAP46 
Exome Variant ServerCFAP46
GNOMAD BrowserENSG00000171811
Varsome BrowserCFAP46
ACMGCFAP46 variants
VarityQ8IYW2
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]
Somatic Mutations in Cancer : COSMICCFAP46  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCFAP46
Mutations and Diseases : HGMDCFAP46
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCFAP46
DgiDB (Drug Gene Interaction Database)CFAP46
DoCM (Curated mutations)CFAP46
CIViC (Clinical Interpretations of Variants in Cancer)CFAP46
Cancer3DCFAP46
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618543   
Orphanet
DisGeNETCFAP46
MedgenCFAP46
Genetic Testing Registry CFAP46
NextProtQ8IYW2 [Medical]
GENETestsCFAP46
Target ValidationCFAP46
Huge Navigator CFAP46 [HugePedia]
ClinGenCFAP46
Clinical trials, drugs, therapy
MyCancerGenomeCFAP46
Protein Interactions : CTDCFAP46
Pharm GKB GenePA134884148
PharosQ8IYW2
Clinical trialCFAP46
Miscellaneous
canSAR (ICR)CFAP46
HarmonizomeCFAP46
DataMed IndexCFAP46
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCFAP46
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:03:41 CEST 2021

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