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DNAH8 (dynein axonemal heavy chain 8)

Identity

Alias (NCBI)ATPase
hdhc9
HGNC (Hugo) DNAH8
HGNC Alias symbhdhc9
HGNC Previous namedynein, axonemal, heavy polypeptide 8
LocusID (NCBI) 1769
Atlas_Id 57403
Location 6p21.2  [Link to chromosome band 6p21]
Location_base_pair Starts at 38715311 and ends at 39030792 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)
DNAH8 (6p21.2) / TMEM217 (6p21.2)DTNBP1 (6p22.3) / DNAH8 (6p21.2)FOXP4 (6p21.1) / DNAH8 (6p21.2)
GMDS (6p25.3) / DNAH8 (6p21.2)ZFAND3 (6p21.2) / DNAH8 (6p21.2)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  DNAH8/TMEM217 (6p21)
FOXP4/DNAH8 (6p21)
ZFAND3/DNAH8 (6p21)
t(6;6)(p21;p22) DTNBP1/DNAH8
t(6;6)(p21;p25) GMDS/DNAH8


External links

Nomenclature
HGNC (Hugo)DNAH8   2952
Cards
Entrez_Gene (NCBI)DNAH8  1769  dynein axonemal heavy chain 8
AliasesATPase; hdhc9
GeneCards (Weizmann)DNAH8
Ensembl hg19 (Hinxton)ENSG00000124721 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124721 [Gene_View]  ENSG00000124721 [Sequence]  chr6:38715311-39030792 [Contig_View]  DNAH8 [Vega]
ICGC DataPortalENSG00000124721
TCGA cBioPortalDNAH8
AceView (NCBI)DNAH8
Genatlas (Paris)DNAH8
WikiGenes1769
SOURCE (Princeton)DNAH8
Genetics Home Reference (NIH)DNAH8
Genomic and cartography
GoldenPath hg38 (UCSC)DNAH8  -     chr6:38715311-39030792 +  6p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAH8  -     6p21.2   [Description]    (hg19-Feb_2009)
GoldenPathDNAH8 - 6p21.2 [CytoView hg19]  DNAH8 - 6p21.2 [CytoView hg38]
ImmunoBaseENSG00000124721
genome Data Viewer NCBIDNAH8 [Mapview hg19]  
OMIM603337   
Gene and transcription
Genbank (Entrez)AF356519 AF527621 AF527622 AF527623 AJ132091
RefSeq transcript (Entrez)NM_001206927 NM_001371
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAH8
Alternative Splicing GalleryENSG00000124721
Gene ExpressionDNAH8 [ NCBI-GEO ]   DNAH8 [ EBI - ARRAY_EXPRESS ]   DNAH8 [ SEEK ]   DNAH8 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAH8 [ Firebrowse - Broad ]
GenevisibleExpression of DNAH8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1769
GTEX Portal (Tissue expression)DNAH8
Human Protein AtlasENSG00000124721-DNAH8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JB1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JB1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JB1
Splice isoforms : SwissVarQ96JB1
PhosPhoSitePlusQ96JB1
Domains : Interpro (EBI)AAA+_ATPase    AAA_6    AAA_9    AAA_lid_11    AAA_lid_11_sf    DHC_fam    DNAH3_AAA_lid_1    Dynein_2_C    Dynein_2_N    Dynein_AAA5_ext    Dynein_C    Dynein_HC_stalk    Dynein_heavy_chain_D4_dom    Dynein_heavy_D6_P-loop    Dynein_heavy_dom-1    Dynein_heavy_dom-2    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA_6 (PF12774)    AAA_8 (PF12780)    AAA_9 (PF12781)    AAA_lid_1 (PF17857)    AAA_lid_11 (PF18198)    DHC_N1 (PF08385)    DHC_N2 (PF08393)    Dynein_AAA_lid (PF17852)    Dynein_C (PF18199)    Dynein_heavy (PF03028)    MT (PF12777)   
Domain families : Pfam (NCBI)pfam12774    pfam12780    pfam12781    pfam17857    pfam18198    pfam08385    pfam08393    pfam17852    pfam18199    pfam03028    pfam12777   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)DNAH8
DMDM Disease mutations1769
Blocks (Seattle)DNAH8
SuperfamilyQ96JB1
Human Protein Atlas [tissue]ENSG00000124721-DNAH8 [tissue]
Peptide AtlasQ96JB1
IPIIPI00014845   IPI00478021   IPI00903184   IPI00873991   IPI00552749   
Protein Interaction databases
DIP (DOE-UCLA)Q96JB1
IntAct (EBI)Q96JB1
FunCoupENSG00000124721
BioGRIDDNAH8
STRING (EMBL)DNAH8
ZODIACDNAH8
Ontologies - Pathways
QuickGOQ96JB1
Ontology : AmiGOmicrotubule motor activity  ATP binding  axonemal dynein complex  microtubule  axoneme  microtubule-based movement  ATP-dependent microtubule motor activity, minus-end-directed  dynein complex  sperm flagellum  outer dynein arm  outer dynein arm assembly  dynein intermediate chain binding  dynein light intermediate chain binding  cilium-dependent cell motility  
Ontology : EGO-EBImicrotubule motor activity  ATP binding  axonemal dynein complex  microtubule  axoneme  microtubule-based movement  ATP-dependent microtubule motor activity, minus-end-directed  dynein complex  sperm flagellum  outer dynein arm  outer dynein arm assembly  dynein intermediate chain binding  dynein light intermediate chain binding  cilium-dependent cell motility  
NDEx NetworkDNAH8
Atlas of Cancer Signalling NetworkDNAH8
Wikipedia pathwaysDNAH8
Orthology - Evolution
OrthoDB1769
GeneTree (enSembl)ENSG00000124721
Phylogenetic Trees/Animal Genes : TreeFamDNAH8
HOGENOMQ96JB1
Homologs : HomoloGeneDNAH8
Homology/Alignments : Family Browser (UCSC)DNAH8
Gene fusions - Rearrangements
Fusion : QuiverDNAH8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAH8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAH8
dbVarDNAH8
ClinVarDNAH8
1000_GenomesDNAH8 
Exome Variant ServerDNAH8
GNOMAD BrowserENSG00000124721
Varsome BrowserDNAH8
Genetic variants : HAPMAP1769
Genomic Variants (DGV)DNAH8 [DGVbeta]
DECIPHERDNAH8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAH8 
Mutations
ICGC Data PortalDNAH8 
TCGA Data PortalDNAH8 
Broad Tumor PortalDNAH8
OASIS PortalDNAH8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAH8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDNAH8
Mutations and Diseases : HGMDDNAH8
BioMutasearch DNAH8
DgiDB (Drug Gene Interaction Database)DNAH8
DoCM (Curated mutations)DNAH8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAH8 (select a term)
intoGenDNAH8
Cancer3DDNAH8(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603337   
Orphanet
DisGeNETDNAH8
MedgenDNAH8
Genetic Testing Registry DNAH8
NextProtQ96JB1 [Medical]
TSGene1769
GENETestsDNAH8
Target ValidationDNAH8
Huge Navigator DNAH8 [HugePedia]
snp3D : Map Gene to Disease1769
BioCentury BCIQDNAH8
ClinGenDNAH8
Clinical trials, drugs, therapy
Protein Interactions : CTD1769
Pharm GKB GenePA27405
Clinical trialDNAH8
Miscellaneous
canSAR (ICR)DNAH8 (select the gene name)
HarmonizomeDNAH8
DataMed IndexDNAH8
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAH8
EVEXDNAH8
GoPubMedDNAH8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:10:52 CEST 2020

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