Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DNAH17 (dynein axonemal heavy chain 17)

Identity

Alias (NCBI)DNAHL1
DNEL2
SPGF39
HGNC (Hugo) DNAH17
HGNC Alias symbDNEL2
FLJ40457
HGNC Previous nameDNAHL1
HGNC Previous namedynein, axonemal, heavy polypeptide 17
 dynein, axonemal, heavy chain like 1
 dynein, axonemal, heavy like 1
LocusID (NCBI) 8632
Atlas_Id 62548
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 78423697 and ends at 78577394 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)
AGBL4 (1p33) / DNAH17 (17q25.3)APPBP2 (17q23.2) / DNAH17 (17q25.3)SEPT9 (17q25.2) / DNAH17 (17q25.3)
SKAP1 (17q21.32) / DNAH17 (17q25.3)TK1 (17q25.3) / DNAH17 (17q25.3)TMC6 (17q25.3) / DNAH17 (17q25.3)
TK1 DNAH17APPBP2 DNAH17SKAP1 DNAH17
TMC6 DNAH17SEPT9 DNAH17

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 ]
  t(17;17)(q21;q25) SKAP1/DNAH17
t(17;17)(q23;q25) APPBP2/DNAH17
SEPT9/DNAH17 (17q25)
TK1/DNAH17 (17q25)
TMC6/DNAH17 (17q25)

External links

Nomenclature
HGNC (Hugo)DNAH17   2946
Cards
Entrez_Gene (NCBI)DNAH17    dynein axonemal heavy chain 17
AliasesDNAHL1; DNEL2; SPGF39
GeneCards (Weizmann)DNAH17
Ensembl hg19 (Hinxton)ENSG00000187775 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187775 [Gene_View]  ENSG00000187775 [Sequence]  chr17:78423697-78577394 [Contig_View]  DNAH17 [Vega]
ICGC DataPortalENSG00000187775
TCGA cBioPortalDNAH17
AceView (NCBI)DNAH17
Genatlas (Paris)DNAH17
SOURCE (Princeton)DNAH17
Genetics Home Reference (NIH)DNAH17
Genomic and cartography
GoldenPath hg38 (UCSC)DNAH17  -     chr17:78423697-78577394 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAH17  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathDNAH17 - 17q25.3 [CytoView hg19]  DNAH17 - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000187775
genome Data Viewer NCBIDNAH17 [Mapview hg19]  
OMIM610063   618643   
Gene and transcription
Genbank (Entrez)AB290170 AJ000522 AK097776 AK126059 AK128065
RefSeq transcript (Entrez)NM_003727 NM_173628
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAH17
Alternative Splicing GalleryENSG00000187775
Gene ExpressionDNAH17 [ NCBI-GEO ]   DNAH17 [ EBI - ARRAY_EXPRESS ]   DNAH17 [ SEEK ]   DNAH17 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAH17 [ Firebrowse - Broad ]
GenevisibleExpression of DNAH17 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8632
GTEX Portal (Tissue expression)DNAH17
Human Protein AtlasENSG00000187775-DNAH17 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UFH2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UFH2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UFH2
Splice isoforms : SwissVarQ9UFH2
PhosPhoSitePlusQ9UFH2
Domains : Interpro (EBI)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   
Conserved Domain (NCBI)DNAH17
Blocks (Seattle)DNAH17
SuperfamilyQ9UFH2
Human Protein Atlas [tissue]ENSG00000187775-DNAH17 [tissue]
Peptide AtlasQ9UFH2
HPRD16830
IPIIPI00888430   IPI00943773   IPI00940591   IPI00872980   
Protein Interaction databases
DIP (DOE-UCLA)Q9UFH2
IntAct (EBI)Q9UFH2
BioGRIDDNAH17
STRING (EMBL)DNAH17
ZODIACDNAH17
Ontologies - Pathways
QuickGOQ9UFH2
Ontology : AmiGOcilium movement  microtubule motor activity  ATP binding  axonemal dynein complex  microtubule  axoneme  microtubule-based movement  ATP-dependent microtubule motor activity, minus-end-directed  dynein complex  motile cilium  dynein intermediate chain binding  dynein light intermediate chain binding  cilium-dependent cell motility  
Ontology : EGO-EBIcilium movement  microtubule motor activity  ATP binding  axonemal dynein complex  microtubule  axoneme  microtubule-based movement  ATP-dependent microtubule motor activity, minus-end-directed  dynein complex  motile cilium  dynein intermediate chain binding  dynein light intermediate chain binding  cilium-dependent cell motility  
NDEx NetworkDNAH17
Atlas of Cancer Signalling NetworkDNAH17
Wikipedia pathwaysDNAH17
Orthology - Evolution
OrthoDB8632
GeneTree (enSembl)ENSG00000187775
Phylogenetic Trees/Animal Genes : TreeFamDNAH17
HOGENOMQ9UFH2
Homologs : HomoloGeneDNAH17
Homology/Alignments : Family Browser (UCSC)DNAH17
Gene fusions - Rearrangements
Fusion PortalTK1 DNAH17
Fusion PortalAPPBP2 DNAH17
Fusion PortalSKAP1 DNAH17
Fusion PortalTMC6 DNAH17
Fusion PortalSEPT9 DNAH17
Fusion : QuiverDNAH17
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAH17 [hg38]
dbVarDNAH17
ClinVarDNAH17
MonarchDNAH17
1000_GenomesDNAH17 
Exome Variant ServerDNAH17
GNOMAD BrowserENSG00000187775
Varsome BrowserDNAH17
Genomic Variants (DGV)DNAH17 [DGVbeta]
DECIPHERDNAH17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAH17 
Mutations
ICGC Data PortalDNAH17 
TCGA Data PortalDNAH17 
Broad Tumor PortalDNAH17
OASIS PortalDNAH17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAH17  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDNAH17
Mutations and Diseases : HGMDDNAH17
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 DNAH17
DgiDB (Drug Gene Interaction Database)DNAH17
DoCM (Curated mutations)DNAH17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAH17 (select a term)
intoGenDNAH17
Cancer3DDNAH17(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610063    618643   
Orphanet
DisGeNETDNAH17
MedgenDNAH17
Genetic Testing Registry DNAH17
NextProtQ9UFH2 [Medical]
GENETestsDNAH17
Target ValidationDNAH17
Huge Navigator DNAH17 [HugePedia]
ClinGenDNAH17
Clinical trials, drugs, therapy
MyCancerGenomeDNAH17
Protein Interactions : CTD
Pharm GKB GenePA27400
Clinical trialDNAH17
Miscellaneous
canSAR (ICR)DNAH17 (select the gene name)
HarmonizomeDNAH17
DataMed IndexDNAH17
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAH17
EVEXDNAH17
GoPubMedDNAH17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:52:02 CET 2020
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