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DNAAF4 (dynein axonemal assembly factor 4)

Identity

Other aliasCILD25
DYX1
DYX1C1
DYXC1
EKN1
RD
HGNC (Hugo) DNAAF4
LocusID (NCBI) 161582
Atlas_Id 56808
Location 15q21.3  [Link to chromosome band 15q21]
Location_base_pair Starts at 55430308 and ends at 55508234 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)
DYX1C1 15q21.3 / RFX7 15q21.3

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)DNAAF4   21493
Cards
Entrez_Gene (NCBI)DNAAF4  161582  dynein axonemal assembly factor 4
AliasesCILD25; DYX1; DYX1C1; DYXC1; 
EKN1; RD
GeneCards (Weizmann)DNAAF4
Ensembl hg19 (Hinxton)ENSG00000256061 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000256061 [Gene_View]  chr15:55430308-55508234 [Contig_View]  DNAAF4 [Vega]
ICGC DataPortalENSG00000256061
TCGA cBioPortalDNAAF4
AceView (NCBI)DNAAF4
Genatlas (Paris)DNAAF4
WikiGenes161582
SOURCE (Princeton)DNAAF4
Genetics Home Reference (NIH)DNAAF4
Genomic and cartography
GoldenPath hg38 (UCSC)DNAAF4  -     chr15:55430308-55508234 -  15q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAAF4  -     15q21.3   [Description]    (hg19-Feb_2009)
EnsemblDNAAF4 - 15q21.3 [CytoView hg19]  DNAAF4 - 15q21.3 [CytoView hg38]
Mapping of homologs : NCBIDNAAF4 [Mapview hg19]  DNAAF4 [Mapview hg38]
OMIM127700   608706   615482   
Gene and transcription
Genbank (Entrez)AF337549 AK095201 AK302316 BC017392 BC062564
RefSeq transcript (Entrez)NM_001033559 NM_001033560 NM_130810
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAAF4
Cluster EST : UnigeneHs.126403 [ NCBI ]
CGAP (NCI)Hs.126403
Alternative Splicing GalleryENSG00000256061
Gene ExpressionDNAAF4 [ NCBI-GEO ]   DNAAF4 [ EBI - ARRAY_EXPRESS ]   DNAAF4 [ SEEK ]   DNAAF4 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAAF4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)161582
GTEX Portal (Tissue expression)DNAAF4
Human Protein AtlasENSG00000256061-DNAAF4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXU2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXU2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXU2
Splice isoforms : SwissVarQ8WXU2
PhosPhoSitePlusQ8WXU2
Domaine pattern : Prosite (Expaxy)CS (PS51203)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)CS_dom    HSP20-like_chaperone    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)CS (PF04969)   
Domain families : Pfam (NCBI)pfam04969   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)DNAAF4
DMDM Disease mutations161582
Blocks (Seattle)DNAAF4
SuperfamilyQ8WXU2
Human Protein Atlas [tissue]ENSG00000256061-DNAAF4 [tissue]
Peptide AtlasQ8WXU2
HPRD10568
IPIIPI00103616   IPI00472826   IPI00166250   IPI00909491   IPI00980815   IPI00974534   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXU2
IntAct (EBI)Q8WXU2
FunCoupENSG00000256061
BioGRIDDNAAF4
STRING (EMBL)DNAAF4
ZODIACDNAAF4
Ontologies - Pathways
QuickGOQ8WXU2
Ontology : AmiGOneuron migration  cilium movement  protein binding  nucleus  cytoplasm  centrosome  cytosol  plasma membrane  determination of left/right symmetry  estrogen receptor binding  regulation of intracellular estrogen receptor signaling pathway  outer dynein arm assembly  inner dynein arm assembly  regulation of proteasomal protein catabolic process  non-motile cilium  
Ontology : EGO-EBIneuron migration  cilium movement  protein binding  nucleus  cytoplasm  centrosome  cytosol  plasma membrane  determination of left/right symmetry  estrogen receptor binding  regulation of intracellular estrogen receptor signaling pathway  outer dynein arm assembly  inner dynein arm assembly  regulation of proteasomal protein catabolic process  non-motile cilium  
NDEx NetworkDNAAF4
Atlas of Cancer Signalling NetworkDNAAF4
Wikipedia pathwaysDNAAF4
Orthology - Evolution
OrthoDB161582
GeneTree (enSembl)ENSG00000256061
Phylogenetic Trees/Animal Genes : TreeFamDNAAF4
HOVERGENQ8WXU2
HOGENOMQ8WXU2
Homologs : HomoloGeneDNAAF4
Homology/Alignments : Family Browser (UCSC)DNAAF4
Gene fusions - Rearrangements
Fusion : MitelmanDYX1C1/RFX7 [15q21.3/15q21.3]  
Fusion: TCGA_MDACCDYX1C1 15q21.3 RFX7 15q21.3 BRCA
Tumor Fusion PortalDNAAF4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAAF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAAF4
dbVarDNAAF4
ClinVarDNAAF4
1000_GenomesDNAAF4 
Exome Variant ServerDNAAF4
ExAC (Exome Aggregation Consortium)ENSG00000256061
GNOMAD BrowserENSG00000256061
Genetic variants : HAPMAP161582
Genomic Variants (DGV)DNAAF4 [DGVbeta]
DECIPHERDNAAF4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAAF4 
Mutations
ICGC Data PortalDNAAF4 
TCGA Data PortalDNAAF4 
Broad Tumor PortalDNAAF4
OASIS PortalDNAAF4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDNAAF4
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 DNAAF4
DgiDB (Drug Gene Interaction Database)DNAAF4
DoCM (Curated mutations)DNAAF4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAAF4 (select a term)
intoGenDNAAF4
Cancer3DDNAAF4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM127700    608706    615482   
Orphanet
DisGeNETDNAAF4
MedgenDNAAF4
Genetic Testing Registry DNAAF4
NextProtQ8WXU2 [Medical]
TSGene161582
GENETestsDNAAF4
Target ValidationDNAAF4
Huge Navigator DNAAF4 [HugePedia]
snp3D : Map Gene to Disease161582
BioCentury BCIQDNAAF4
ClinGenDNAAF4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD161582
Chemical/Pharm GKB GenePA134870600
Clinical trialDNAAF4
Miscellaneous
canSAR (ICR)DNAAF4 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAAF4
EVEXDNAAF4
GoPubMedDNAAF4
iHOPDNAAF4
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 : Tue Nov 21 14:10:47 CET 2017

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