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DNAAF1 (dynein axonemal assembly factor 1)

Identity

Alias_namesLRRC50
leucine rich repeat containing 50
dynein, axonemal, assembly factor 1
dynein (axonemal) assembly factor 1
Alias_symbol (synonym)FLJ25330
ODA7
CILD13
swt
Other alias
HGNC (Hugo) DNAAF1
LocusID (NCBI) 123872
Atlas_Id 62540
Location 16q24.1  [Link to chromosome band 16q24]
Location_base_pair Starts at 84159040 and ends at 84177920 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)
DNAAF1 (16q23.3) / STK10 (5q35.1)RGS7 (1q43) / DNAAF1 (16q23.3)

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)DNAAF1   30539
Cards
Entrez_Gene (NCBI)DNAAF1  123872  dynein axonemal assembly factor 1
AliasesCILD13; LRRC50; ODA7; swt
GeneCards (Weizmann)DNAAF1
Ensembl hg19 (Hinxton)ENSG00000154099 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154099 [Gene_View]  chr16:84159040-84177920 [Contig_View]  DNAAF1 [Vega]
ICGC DataPortalENSG00000154099
TCGA cBioPortalDNAAF1
AceView (NCBI)DNAAF1
Genatlas (Paris)DNAAF1
WikiGenes123872
SOURCE (Princeton)DNAAF1
Genetics Home Reference (NIH)DNAAF1
Genomic and cartography
GoldenPath hg38 (UCSC)DNAAF1  -     chr16:84159040-84177920 +  16q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAAF1  -     16q24.1   [Description]    (hg19-Feb_2009)
EnsemblDNAAF1 - 16q24.1 [CytoView hg19]  DNAAF1 - 16q24.1 [CytoView hg38]
Mapping of homologs : NCBIDNAAF1 [Mapview hg19]  DNAAF1 [Mapview hg38]
OMIM613190   613193   
Gene and transcription
Genbank (Entrez)AA994895 AK057238 AK058059 AK295990 AK310961
RefSeq transcript (Entrez)NM_001318756 NM_178452
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAAF1
Cluster EST : UnigeneHs.310164 [ NCBI ]
CGAP (NCI)Hs.310164
Alternative Splicing GalleryENSG00000154099
Gene ExpressionDNAAF1 [ NCBI-GEO ]   DNAAF1 [ EBI - ARRAY_EXPRESS ]   DNAAF1 [ SEEK ]   DNAAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAAF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)123872
GTEX Portal (Tissue expression)DNAAF1
Human Protein AtlasENSG00000154099-DNAAF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEP3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEP3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEP3
Splice isoforms : SwissVarQ8NEP3
PhosPhoSitePlusQ8NEP3
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)DNAAF1    L_dom-like    Leu-rich_rpt   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DNAAF1
DMDM Disease mutations123872
Blocks (Seattle)DNAAF1
SuperfamilyQ8NEP3
Human Protein Atlas [tissue]ENSG00000154099-DNAAF1 [tissue]
Peptide AtlasQ8NEP3
HPRD14023
IPIIPI00065458   IPI00921305   IPI00549355   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEP3
IntAct (EBI)Q8NEP3
FunCoupENSG00000154099
BioGRIDDNAAF1
STRING (EMBL)DNAAF1
ZODIACDNAAF1
Ontologies - Pathways
QuickGOQ8NEP3
Ontology : AmiGOspindle pole  heart looping  cilium movement  regulation of cilium beat frequency  cytoplasm  cytosol  plasma membrane  axoneme  nuclear speck  lung development  determination of pancreatic left/right asymmetry  outer dynein arm assembly  inner dynein arm assembly  motile cilium assembly  cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  left/right pattern formation  axonemal dynein complex assembly  dynein complex binding  determination of digestive tract left/right asymmetry  determination of liver left/right asymmetry  
Ontology : EGO-EBIspindle pole  heart looping  cilium movement  regulation of cilium beat frequency  cytoplasm  cytosol  plasma membrane  axoneme  nuclear speck  lung development  determination of pancreatic left/right asymmetry  outer dynein arm assembly  inner dynein arm assembly  motile cilium assembly  cilium assembly  epithelial cilium movement involved in determination of left/right asymmetry  left/right pattern formation  axonemal dynein complex assembly  dynein complex binding  determination of digestive tract left/right asymmetry  determination of liver left/right asymmetry  
NDEx NetworkDNAAF1
Atlas of Cancer Signalling NetworkDNAAF1
Wikipedia pathwaysDNAAF1
Orthology - Evolution
OrthoDB123872
GeneTree (enSembl)ENSG00000154099
Phylogenetic Trees/Animal Genes : TreeFamDNAAF1
HOVERGENQ8NEP3
HOGENOMQ8NEP3
Homologs : HomoloGeneDNAAF1
Homology/Alignments : Family Browser (UCSC)DNAAF1
Gene fusions - Rearrangements
Fusion: Tumor Portal DNAAF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAAF1
dbVarDNAAF1
ClinVarDNAAF1
1000_GenomesDNAAF1 
Exome Variant ServerDNAAF1
ExAC (Exome Aggregation Consortium)ENSG00000154099
GNOMAD BrowserENSG00000154099
Genetic variants : HAPMAP123872
Genomic Variants (DGV)DNAAF1 [DGVbeta]
DECIPHERDNAAF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAAF1 
Mutations
ICGC Data PortalDNAAF1 
TCGA Data PortalDNAAF1 
Broad Tumor PortalDNAAF1
OASIS PortalDNAAF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAAF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAAF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DNAAF1
DgiDB (Drug Gene Interaction Database)DNAAF1
DoCM (Curated mutations)DNAAF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAAF1 (select a term)
intoGenDNAAF1
Cancer3DDNAAF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613190    613193   
Orphanet665   
MedgenDNAAF1
Genetic Testing Registry DNAAF1
NextProtQ8NEP3 [Medical]
TSGene123872
GENETestsDNAAF1
Target ValidationDNAAF1
Huge Navigator DNAAF1 [HugePedia]
snp3D : Map Gene to Disease123872
BioCentury BCIQDNAAF1
ClinGenDNAAF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD123872
Chemical/Pharm GKB GenePA142671510
Clinical trialDNAAF1
Miscellaneous
canSAR (ICR)DNAAF1 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAAF1
EVEXDNAAF1
GoPubMedDNAAF1
iHOPDNAAF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:44:49 CET 2017

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