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DHX40 (DEAH-box helicase 40)

Identity

Alias_namesDDX40
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)
DEAH (Asp-Glu-Ala-His) box polypeptide 40
Alias_symbol (synonym)ARG147
PAD
FLJ22060
Other alias
HGNC (Hugo) DHX40
LocusID (NCBI) 79665
Atlas_Id 46738
Location 17q23.1  [Link to chromosome band 17q23]
Location_base_pair Starts at 59565525 and ends at 59608352 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C1orf115 (1q41) / DHX40 (17q23.1)DHX40 (17q23.1) / RNFT1 (17q23.1)DHX40 (17q23.1) / UNC5D (8p12)
MSI2 (17q22) / DHX40 (17q23.1)PBX1 (1q23.3) / DHX40 (17q23.1)USP32 (17q23.1) / DHX40 (17q23.1)
DHX40 17q23.1 / RNFT1 17q23.1DHX40 17q23.1 / UNC5D 8p12MSI2 17q22 / DHX40 17q23.1
PBX1 1q23.3 / DHX40 17q23.1USP32 17q23.1 / DHX40 17q23.1

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)DHX40   18018
Cards
Entrez_Gene (NCBI)DHX40  79665  DEAH-box helicase 40
AliasesARG147; DDX40; PAD
GeneCards (Weizmann)DHX40
Ensembl hg19 (Hinxton)ENSG00000108406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108406 [Gene_View]  chr17:59565525-59608352 [Contig_View]  DHX40 [Vega]
ICGC DataPortalENSG00000108406
TCGA cBioPortalDHX40
AceView (NCBI)DHX40
Genatlas (Paris)DHX40
WikiGenes79665
SOURCE (Princeton)DHX40
Genetics Home Reference (NIH)DHX40
Genomic and cartography
GoldenPath hg38 (UCSC)DHX40  -     chr17:59565525-59608352 +  17q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHX40  -     17q23.1   [Description]    (hg19-Feb_2009)
EnsemblDHX40 - 17q23.1 [CytoView hg19]  DHX40 - 17q23.1 [CytoView hg38]
Mapping of homologs : NCBIDHX40 [Mapview hg19]  DHX40 [Mapview hg38]
OMIM607570   
Gene and transcription
Genbank (Entrez)AF260270 AF319521 AF461690 AK025713 AK091334
RefSeq transcript (Entrez)NM_001166301 NM_024612
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DHX40
Cluster EST : UnigeneHs.29403 [ NCBI ]
CGAP (NCI)Hs.29403
Alternative Splicing GalleryENSG00000108406
Gene ExpressionDHX40 [ NCBI-GEO ]   DHX40 [ EBI - ARRAY_EXPRESS ]   DHX40 [ SEEK ]   DHX40 [ MEM ]
Gene Expression Viewer (FireBrowse)DHX40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79665
GTEX Portal (Tissue expression)DHX40
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IX18   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IX18  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IX18
Splice isoforms : SwissVarQ8IX18
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   
PhosPhoSitePlusQ8IX18
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    DNA/RNA_helicase_DEAH_CS    DUF1605    Helicase-assoc_dom    Helicase_ATP-bd    Helicase_C    P-loop_NTPase   
Domain families : Pfam (Sanger)DEAD (PF00270)    HA2 (PF04408)    Helicase_C (PF00271)    OB_NTP_bind (PF07717)   
Domain families : Pfam (NCBI)pfam00270    pfam04408    pfam00271    pfam07717   
Domain families : Smart (EMBL)DEXDc (SM00487)  HA2 (SM00847)  HELICc (SM00490)  
Conserved Domain (NCBI)DHX40
DMDM Disease mutations79665
Blocks (Seattle)DHX40
SuperfamilyQ8IX18
Human Protein AtlasENSG00000108406
Peptide AtlasQ8IX18
HPRD06346
IPIIPI00410110   IPI01010408   IPI00797226   IPI00789290   IPI00952676   
Protein Interaction databases
DIP (DOE-UCLA)Q8IX18
IntAct (EBI)Q8IX18
FunCoupENSG00000108406
BioGRIDDHX40
STRING (EMBL)DHX40
ZODIACDHX40
Ontologies - Pathways
QuickGOQ8IX18
Ontology : AmiGOmRNA splicing, via spliceosome  nucleic acid binding  ATP-dependent RNA helicase activity  ATP binding  spliceosomal complex  cytoplasm  
Ontology : EGO-EBImRNA splicing, via spliceosome  nucleic acid binding  ATP-dependent RNA helicase activity  ATP binding  spliceosomal complex  cytoplasm  
NDEx NetworkDHX40
Atlas of Cancer Signalling NetworkDHX40
Wikipedia pathwaysDHX40
Orthology - Evolution
OrthoDB79665
GeneTree (enSembl)ENSG00000108406
Phylogenetic Trees/Animal Genes : TreeFamDHX40
HOVERGENQ8IX18
HOGENOMQ8IX18
Homologs : HomoloGeneDHX40
Homology/Alignments : Family Browser (UCSC)DHX40
Gene fusions - Rearrangements
Fusion : MitelmanDHX40/RNFT1 [17q23.1/17q23.1]  
Fusion : MitelmanDHX40/UNC5D [17q23.1/8p12]  [t(8;17)(p12;q23)]  
Fusion : MitelmanMSI2/DHX40 [17q22/17q23.1]  [t(17;17)(q22;q23)]  
Fusion : MitelmanPBX1/DHX40 [1q23.3/17q23.1]  [t(1;17)(q23;q23)]  
Fusion : MitelmanUSP32/DHX40 [17q23.1/17q23.1]  [t(17;17)(q23;q23)]  
Fusion: TCGADHX40 17q23.1 RNFT1 17q23.1 BRCA LUAD LUSC
Fusion: TCGADHX40 17q23.1 UNC5D 8p12 LUAD
Fusion: TCGAMSI2 17q22 DHX40 17q23.1 BRCA
Fusion: TCGAPBX1 1q23.3 DHX40 17q23.1 BRCA
Fusion: TCGAUSP32 17q23.1 DHX40 17q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHX40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHX40
dbVarDHX40
ClinVarDHX40
1000_GenomesDHX40 
Exome Variant ServerDHX40
ExAC (Exome Aggregation Consortium)DHX40 (select the gene name)
Genetic variants : HAPMAP79665
Genomic Variants (DGV)DHX40 [DGVbeta]
DECIPHERDHX40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHX40 
Mutations
ICGC Data PortalDHX40 
TCGA Data PortalDHX40 
Broad Tumor PortalDHX40
OASIS PortalDHX40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHX40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDHX40
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 DHX40
DgiDB (Drug Gene Interaction Database)DHX40
DoCM (Curated mutations)DHX40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DHX40 (select a term)
intoGenDHX40
Cancer3DDHX40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607570   
Orphanet
MedgenDHX40
Genetic Testing Registry DHX40
NextProtQ8IX18 [Medical]
TSGene79665
GENETestsDHX40
Target ValidationDHX40
Huge Navigator DHX40 [HugePedia]
snp3D : Map Gene to Disease79665
BioCentury BCIQDHX40
ClinGenDHX40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79665
Chemical/Pharm GKB GenePA27227
Clinical trialDHX40
Miscellaneous
canSAR (ICR)DHX40 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDHX40
EVEXDHX40
GoPubMedDHX40
iHOPDHX40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:05:22 CEST 2017

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