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DNAAF6 (dynein axonemal assembly factor 6)

Identity

Alias (NCBI)CILD36
CXorf41
NYSAR97
PIH1D3
TWISTER
HGNC (Hugo) DNAAF6
HGNC Alias symbMGC35261
NYSAR97
HGNC Alias namesarcoma antigen NY-SAR-97
HGNC Previous nameCXorf41
HGNC Previous namechromosome X open reading frame 41
LocusID (NCBI) 139212
Atlas_Id 71915
Location Xq22.3  [Link to chromosome band Xq22]
Location_base_pair Starts at 107206611 and ends at 107244246 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



External links

 

Nomenclature
HGNC (Hugo)DNAAF6   28570
Cards
Entrez_Gene (NCBI)DNAAF6    dynein axonemal assembly factor 6
AliasesCILD36; CXorf41; NYSAR97; PIH1D3; 
TWISTER
GeneCards (Weizmann)DNAAF6
Ensembl hg19 (Hinxton)ENSG00000080572 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000080572 [Gene_View]  ENSG00000080572 [Sequence]  chrX:107206611-107244246 [Contig_View]  DNAAF6 [Vega]
ICGC DataPortalENSG00000080572
TCGA cBioPortalDNAAF6
AceView (NCBI)DNAAF6
Genatlas (Paris)DNAAF6
SOURCE (Princeton)DNAAF6
Genetics Home Reference (NIH)DNAAF6
Genomic and cartography
GoldenPath hg38 (UCSC)DNAAF6  -     chrX:107206611-107244246 +  Xq22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAAF6  -     Xq22.3   [Description]    (hg19-Feb_2009)
GoldenPathDNAAF6 - Xq22.3 [CytoView hg19]  DNAAF6 - Xq22.3 [CytoView hg38]
ImmunoBaseENSG00000080572
Genome Data Viewer NCBIDNAAF6 [Mapview hg19]  
OMIM300933   300991   
Gene and transcription
Genbank (Entrez)AI147427 AY211928 BC033510
RefSeq transcript (Entrez)NM_001169154 NM_173494
Consensus coding sequences : CCDS (NCBI)DNAAF6
Gene ExpressionDNAAF6 [ NCBI-GEO ]   DNAAF6 [ EBI - ARRAY_EXPRESS ]   DNAAF6 [ SEEK ]   DNAAF6 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAAF6 [ Firebrowse - Broad ]
GenevisibleExpression of DNAAF6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)139212
GTEX Portal (Tissue expression)DNAAF6
Human Protein AtlasENSG00000080572-DNAAF6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQM4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQM4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQM4
PhosPhoSitePlusQ9NQM4
Domains : Interpro (EBI)PIH1D1/2/3_CS-like    PIH1D3   
Domain families : Pfam (Sanger)PIH1_CS (PF18201)   
Domain families : Pfam (NCBI)pfam18201   
Conserved Domain (NCBI)DNAAF6
SuperfamilyQ9NQM4
AlphaFold pdb e-kbQ9NQM4   
Human Protein Atlas [tissue]ENSG00000080572-DNAAF6 [tissue]
HPRD06650
Protein Interaction databases
DIP (DOE-UCLA)Q9NQM4
IntAct (EBI)Q9NQM4
BioGRIDDNAAF6
STRING (EMBL)DNAAF6
ZODIACDNAAF6
Ontologies - Pathways
QuickGOQ9NQM4
Ontology : AmiGOcilium movement  protein binding  cytoplasm  cytoplasm  trans-Golgi network  flagellated sperm motility  flagellated sperm motility  outer dynein arm assembly  inner dynein arm assembly  dynein intermediate chain binding  chaperone binding  axonemal dynein complex assembly  axonemal dynein complex assembly  
Ontology : EGO-EBIcilium movement  protein binding  cytoplasm  cytoplasm  trans-Golgi network  flagellated sperm motility  flagellated sperm motility  outer dynein arm assembly  inner dynein arm assembly  dynein intermediate chain binding  chaperone binding  axonemal dynein complex assembly  axonemal dynein complex assembly  
NDEx NetworkDNAAF6
Atlas of Cancer Signalling NetworkDNAAF6
Wikipedia pathwaysDNAAF6
Orthology - Evolution
OrthoDB139212
GeneTree (enSembl)ENSG00000080572
Phylogenetic Trees/Animal Genes : TreeFamDNAAF6
Homologs : HomoloGeneDNAAF6
Homology/Alignments : Family Browser (UCSC)DNAAF6
Gene fusions - Rearrangements
Fusion : QuiverDNAAF6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAAF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAAF6
dbVarDNAAF6
ClinVarDNAAF6
MonarchDNAAF6
1000_GenomesDNAAF6 
Exome Variant ServerDNAAF6
GNOMAD BrowserENSG00000080572
Varsome BrowserDNAAF6
ACMGDNAAF6 variants
VarityQ9NQM4
Genomic Variants (DGV)DNAAF6 [DGVbeta]
DECIPHERDNAAF6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAAF6 
Mutations
ICGC Data PortalDNAAF6 
TCGA Data PortalDNAAF6 
Broad Tumor PortalDNAAF6
OASIS PortalDNAAF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAAF6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDNAAF6
Mutations and Diseases : HGMDDNAAF6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDNAAF6
DgiDB (Drug Gene Interaction Database)DNAAF6
DoCM (Curated mutations)DNAAF6
CIViC (Clinical Interpretations of Variants in Cancer)DNAAF6
Cancer3DDNAAF6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300933    300991   
Orphanet
DisGeNETDNAAF6
MedgenDNAAF6
Genetic Testing Registry DNAAF6
NextProtQ9NQM4 [Medical]
GENETestsDNAAF6
Target ValidationDNAAF6
Huge Navigator DNAAF6 [HugePedia]
ClinGenDNAAF6
Clinical trials, drugs, therapy
MyCancerGenomeDNAAF6
Protein Interactions : CTDDNAAF6
Pharm GKB GenePA134882142
PharosQ9NQM4
Clinical trialDNAAF6
Miscellaneous
canSAR (ICR)DNAAF6
HarmonizomeDNAAF6
DataMed IndexDNAAF6
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDNAAF6
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 15:48:06 CEST 2021

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