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DHX40 (DEAH-box helicase 40)

Identity

Alias (NCBI)ARG147
DDX40
PAD
HGNC (Hugo) DHX40
HGNC Alias symbARG147
PAD
FLJ22060
HGNC Previous nameDDX40
HGNC Previous nameDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)
 DEAH (Asp-Glu-Ala-His) box polypeptide 40
LocusID (NCBI) 79665
Atlas_Id 46738
Location 17q23.1  [Link to chromosome band 17q23]
Location_base_pair Starts at 59565610 and ends at 59608343 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)
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    DEAH-box helicase 40
AliasesARG147; DDX40; PAD
GeneCards (Weizmann)DHX40
Ensembl hg19 (Hinxton)ENSG00000108406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108406 [Gene_View]  ENSG00000108406 [Sequence]  chr17:59565610-59608343 [Contig_View]  DHX40 [Vega]
ICGC DataPortalENSG00000108406
TCGA cBioPortalDHX40
AceView (NCBI)DHX40
Genatlas (Paris)DHX40
SOURCE (Princeton)DHX40
Genetics Home Reference (NIH)DHX40
Genomic and cartography
GoldenPath hg38 (UCSC)DHX40  -     chr17:59565610-59608343 +  17q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHX40  -     17q23.1   [Description]    (hg19-Feb_2009)
GoldenPathDHX40 - 17q23.1 [CytoView hg19]  DHX40 - 17q23.1 [CytoView hg38]
ImmunoBaseENSG00000108406
Genome Data Viewer NCBIDHX40 [Mapview hg19]  
OMIM607570   
Gene and transcription
Genbank (Entrez)AF260270 AF319521 AF461690 AK025713 AK091334
RefSeq transcript (Entrez)NM_001166301 NM_024612
Consensus coding sequences : CCDS (NCBI)DHX40
Gene ExpressionDHX40 [ NCBI-GEO ]   DHX40 [ EBI - ARRAY_EXPRESS ]   DHX40 [ SEEK ]   DHX40 [ MEM ]
Gene Expression Viewer (FireBrowse)DHX40 [ Firebrowse - Broad ]
GenevisibleExpression of DHX40 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79665
GTEX Portal (Tissue expression)DHX40
Human Protein AtlasENSG00000108406-DHX40 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
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
SuperfamilyQ8IX18
AlphaFold pdb e-kbQ8IX18   
Human Protein Atlas [tissue]ENSG00000108406-DHX40 [tissue]
HPRD06346
Protein Interaction databases
DIP (DOE-UCLA)Q8IX18
IntAct (EBI)Q8IX18
BioGRIDDHX40
STRING (EMBL)DHX40
ZODIACDHX40
Ontologies - Pathways
QuickGOQ8IX18
Ontology : AmiGORNA binding  RNA helicase activity  protein binding  ATP binding  intracellular anatomical structure  hydrolase activity  
Ontology : EGO-EBIRNA binding  RNA helicase activity  protein binding  ATP binding  intracellular anatomical structure  hydrolase activity  
NDEx NetworkDHX40
Atlas of Cancer Signalling NetworkDHX40
Wikipedia pathwaysDHX40
Orthology - Evolution
OrthoDB79665
GeneTree (enSembl)ENSG00000108406
Phylogenetic Trees/Animal Genes : TreeFamDHX40
Homologs : HomoloGeneDHX40
Homology/Alignments : Family Browser (UCSC)DHX40
Gene fusions - Rearrangements
Fusion : MitelmanDHX40/RNFT1 [17q23.1/17q23.1]  
Fusion : MitelmanDHX40/UNC5D [17q23.1/8p12]  
Fusion : MitelmanMSI2/DHX40 [17q22/17q23.1]  
Fusion : MitelmanPBX1/DHX40 [1q23.3/17q23.1]  
Fusion : MitelmanUSP32/DHX40 [17q23.1/17q23.1]  
Fusion : QuiverDHX40
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHX40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHX40
dbVarDHX40
ClinVarDHX40
MonarchDHX40
1000_GenomesDHX40 
Exome Variant ServerDHX40
GNOMAD BrowserENSG00000108406
Varsome BrowserDHX40
ACMGDHX40 variants
VarityQ8IX18
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]  
Somatic Mutations in Cancer : COSMIC3DDHX40
Mutations and Diseases : HGMDDHX40
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDHX40
DgiDB (Drug Gene Interaction Database)DHX40
DoCM (Curated mutations)DHX40
CIViC (Clinical Interpretations of Variants in Cancer)DHX40
Cancer3DDHX40
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607570   
Orphanet
DisGeNETDHX40
MedgenDHX40
Genetic Testing Registry DHX40
NextProtQ8IX18 [Medical]
GENETestsDHX40
Target ValidationDHX40
Huge Navigator DHX40 [HugePedia]
ClinGenDHX40
Clinical trials, drugs, therapy
MyCancerGenomeDHX40
Protein Interactions : CTDDHX40
Pharm GKB GenePA27227
PharosQ8IX18
Clinical trialDHX40
Miscellaneous
canSAR (ICR)DHX40
HarmonizomeDHX40
DataMed IndexDHX40
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDHX40
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 15:06:42 CEST 2021

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