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CFAP43 (cilia and flagella associated protein 43)

Identity

Alias (NCBI)C10orf79
HYDNP1
SPGF19
WDR96
bA373N18.2
HGNC (Hugo) CFAP43
HGNC Alias symbFLJ36006
bA373N18.2
FLJ22944
HGNC Previous nameC10orf79
 WDR96
HGNC Previous namechromosome 10 open reading frame 79
 WD repeat domain 96
LocusID (NCBI) 80217
Atlas_Id 61755
Location 10q25.1  [Link to chromosome band 10q25]
Location_base_pair Starts at 104129888 and ends at 104232364 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)CFAP43   26684
Cards
Entrez_Gene (NCBI)CFAP43    cilia and flagella associated protein 43
AliasesC10orf79; HYDNP1; SPGF19; WDR96; 
bA373N18.2
GeneCards (Weizmann)CFAP43
Ensembl hg19 (Hinxton)ENSG00000197748 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197748 [Gene_View]  ENSG00000197748 [Sequence]  chr10:104129888-104232364 [Contig_View]  CFAP43 [Vega]
ICGC DataPortalENSG00000197748
TCGA cBioPortalCFAP43
AceView (NCBI)CFAP43
Genatlas (Paris)CFAP43
SOURCE (Princeton)CFAP43
Genetics Home Reference (NIH)CFAP43
Genomic and cartography
GoldenPath hg38 (UCSC)CFAP43  -     chr10:104129888-104232364 -  10q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFAP43  -     10q25.1   [Description]    (hg19-Feb_2009)
GoldenPathCFAP43 - 10q25.1 [CytoView hg19]  CFAP43 - 10q25.1 [CytoView hg38]
ImmunoBaseENSG00000197748
Genome Data Viewer NCBICFAP43 [Mapview hg19]  
OMIM236690   617558   617592   
Gene and transcription
Genbank (Entrez)AK026597 AK093325 AK295018 AL136901 AL833836
RefSeq transcript (Entrez)NM_025145
Consensus coding sequences : CCDS (NCBI)CFAP43
Gene ExpressionCFAP43 [ NCBI-GEO ]   CFAP43 [ EBI - ARRAY_EXPRESS ]   CFAP43 [ SEEK ]   CFAP43 [ MEM ]
Gene Expression Viewer (FireBrowse)CFAP43 [ Firebrowse - Broad ]
GenevisibleExpression of CFAP43 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80217
GTEX Portal (Tissue expression)CFAP43
Human Protein AtlasENSG00000197748-CFAP43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDM7
PhosPhoSitePlusQ8NDM7
Domains : Interpro (EBI)CFAP43    WD40/YVTN_repeat-like_dom_sf    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CFAP43
SuperfamilyQ8NDM7
AlphaFold pdb e-kbQ8NDM7   
Human Protein Atlas [tissue]ENSG00000197748-CFAP43 [tissue]
HPRD07625
Protein Interaction databases
DIP (DOE-UCLA)Q8NDM7
IntAct (EBI)Q8NDM7
BioGRIDCFAP43
STRING (EMBL)CFAP43
ZODIACCFAP43
Ontologies - Pathways
QuickGOQ8NDM7
Ontology : AmiGOregulation of cilium beat frequency  extracellular region  axoneme  axoneme  sperm axoneme assembly  sperm axoneme assembly  sperm axoneme assembly  brain development  motile cilium assembly  cilium assembly  cerebrospinal fluid circulation  9+2 motile cilium  mucociliary clearance  
Ontology : EGO-EBIregulation of cilium beat frequency  extracellular region  axoneme  axoneme  sperm axoneme assembly  sperm axoneme assembly  sperm axoneme assembly  brain development  motile cilium assembly  cilium assembly  cerebrospinal fluid circulation  9+2 motile cilium  mucociliary clearance  
NDEx NetworkCFAP43
Atlas of Cancer Signalling NetworkCFAP43
Wikipedia pathwaysCFAP43
Orthology - Evolution
OrthoDB80217
GeneTree (enSembl)ENSG00000197748
Phylogenetic Trees/Animal Genes : TreeFamCFAP43
Homologs : HomoloGeneCFAP43
Homology/Alignments : Family Browser (UCSC)CFAP43
Gene fusions - Rearrangements
Fusion : QuiverCFAP43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFAP43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFAP43
dbVarCFAP43
ClinVarCFAP43
MonarchCFAP43
1000_GenomesCFAP43 
Exome Variant ServerCFAP43
GNOMAD BrowserENSG00000197748
Varsome BrowserCFAP43
ACMGCFAP43 variants
VarityQ8NDM7
Genomic Variants (DGV)CFAP43 [DGVbeta]
DECIPHERCFAP43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFAP43 
Mutations
ICGC Data PortalCFAP43 
TCGA Data PortalCFAP43 
Broad Tumor PortalCFAP43
OASIS PortalCFAP43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFAP43  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCFAP43
Mutations and Diseases : HGMDCFAP43
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCFAP43
DgiDB (Drug Gene Interaction Database)CFAP43
DoCM (Curated mutations)CFAP43
CIViC (Clinical Interpretations of Variants in Cancer)CFAP43
Cancer3DCFAP43
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236690    617558    617592   
Orphanet
DisGeNETCFAP43
MedgenCFAP43
Genetic Testing Registry CFAP43
NextProtQ8NDM7 [Medical]
GENETestsCFAP43
Target ValidationCFAP43
Huge Navigator CFAP43 [HugePedia]
ClinGenCFAP43
Clinical trials, drugs, therapy
MyCancerGenomeCFAP43
Protein Interactions : CTDCFAP43
Pharm GKB GenePA134981723
PharosQ8NDM7
Clinical trialCFAP43
Miscellaneous
canSAR (ICR)CFAP43
HarmonizomeCFAP43
DataMed IndexCFAP43
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCFAP43
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 15:45:54 CEST 2021

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