Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DHX30 (DExH-box helicase 30)

Identity

Alias_namesDDX30
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30
DEAH-box helicase 30
Alias_symbol (synonym)KIAA0890
FLJ11214
Other aliasNEDMIAL
RETCOR
HGNC (Hugo) DHX30
LocusID (NCBI) 22907
Atlas_Id 47105
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 47802909 and ends at 47850196 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)
ARIH2 (3p21.31) / DHX30 (3p21.31)ARPC1B (7q22.1) / DHX30 (3p21.31)TMA7 (3p21.31) / DHX30 (3p21.31)
ARIH2 3p21.31 / DHX30 3p21.31

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) [ 1 ]
  ARIH2/DHX30 (3p21)

External links

Nomenclature
HGNC (Hugo)DHX30   16716
Cards
Entrez_Gene (NCBI)DHX30  22907  DExH-box helicase 30
AliasesDDX30; NEDMIAL; RETCOR
GeneCards (Weizmann)DHX30
Ensembl hg19 (Hinxton)ENSG00000132153 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132153 [Gene_View]  ENSG00000132153 [Sequence]  chr3:47802909-47850196 [Contig_View]  DHX30 [Vega]
ICGC DataPortalENSG00000132153
TCGA cBioPortalDHX30
AceView (NCBI)DHX30
Genatlas (Paris)DHX30
WikiGenes22907
SOURCE (Princeton)DHX30
Genetics Home Reference (NIH)DHX30
Genomic and cartography
GoldenPath hg38 (UCSC)DHX30  -     chr3:47802909-47850196 +  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHX30  -     3p21.31   [Description]    (hg19-Feb_2009)
GoldenPathDHX30 - 3p21.31 [CytoView hg19]  DHX30 - 3p21.31 [CytoView hg38]
ImmunoBaseENSG00000132153
Mapping of homologs : NCBIDHX30 [Mapview hg19]  DHX30 [Mapview hg38]
OMIM616423   617804   
Gene and transcription
Genbank (Entrez)AB020697 AK002076 AK096791 AK291266 BC014237
RefSeq transcript (Entrez)NM_001330990 NM_014966 NM_138614 NM_138615
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DHX30
Cluster EST : UnigeneHs.517948 [ NCBI ]
CGAP (NCI)Hs.517948
Alternative Splicing GalleryENSG00000132153
Gene ExpressionDHX30 [ NCBI-GEO ]   DHX30 [ EBI - ARRAY_EXPRESS ]   DHX30 [ SEEK ]   DHX30 [ MEM ]
Gene Expression Viewer (FireBrowse)DHX30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22907
GTEX Portal (Tissue expression)DHX30
Human Protein AtlasENSG00000132153-DHX30 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L2E3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L2E3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L2E3
Splice isoforms : SwissVarQ7L2E3
PhosPhoSitePlusQ7L2E3
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)DHX30
DMDM Disease mutations22907
Blocks (Seattle)DHX30
PDB (RSDB)2DB2   
PDB Europe2DB2   
PDB (PDBSum)2DB2   
PDB (IMB)2DB2   
Structural Biology KnowledgeBase2DB2   
SCOP (Structural Classification of Proteins)2DB2   
CATH (Classification of proteins structures)2DB2   
SuperfamilyQ7L2E3
Human Protein Atlas [tissue]ENSG00000132153-DHX30 [tissue]
Peptide AtlasQ7L2E3
HPRD13142
IPIIPI00411733   IPI00926109   IPI00926295   IPI00927809   
Protein Interaction databases
DIP (DOE-UCLA)Q7L2E3
IntAct (EBI)Q7L2E3
FunCoupENSG00000132153
BioGRIDDHX30
STRING (EMBL)DHX30
ZODIACDHX30
Ontologies - Pathways
QuickGOQ7L2E3
Ontology : AmiGOG-quadruplex RNA binding  DNA helicase activity  chromatin binding  RNA binding  RNA binding  RNA binding  RNA helicase activity  double-stranded RNA binding  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  cytosol  central nervous system development  DNA duplex unwinding  3'-5' RNA helicase activity  ribonucleoprotein granule  mitochondrial nucleoid  mitochondrial large ribosomal subunit assembly  
Ontology : EGO-EBIG-quadruplex RNA binding  DNA helicase activity  chromatin binding  RNA binding  RNA binding  RNA binding  RNA helicase activity  double-stranded RNA binding  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  cytosol  central nervous system development  DNA duplex unwinding  3'-5' RNA helicase activity  ribonucleoprotein granule  mitochondrial nucleoid  mitochondrial large ribosomal subunit assembly  
NDEx NetworkDHX30
Atlas of Cancer Signalling NetworkDHX30
Wikipedia pathwaysDHX30
Orthology - Evolution
OrthoDB22907
GeneTree (enSembl)ENSG00000132153
Phylogenetic Trees/Animal Genes : TreeFamDHX30
HOGENOMQ7L2E3
Homologs : HomoloGeneDHX30
Homology/Alignments : Family Browser (UCSC)DHX30
Gene fusions - Rearrangements
Fusion : MitelmanARIH2/DHX30 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion PortalARIH2 3p21.31 DHX30 3p21.31 BRCA
Fusion : QuiverDHX30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHX30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHX30
dbVarDHX30
ClinVarDHX30
1000_GenomesDHX30 
Exome Variant ServerDHX30
ExAC (Exome Aggregation Consortium)ENSG00000132153
GNOMAD BrowserENSG00000132153
Varsome BrowserDHX30
Genetic variants : HAPMAP22907
Genomic Variants (DGV)DHX30 [DGVbeta]
DECIPHERDHX30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHX30 
Mutations
ICGC Data PortalDHX30 
TCGA Data PortalDHX30 
Broad Tumor PortalDHX30
OASIS PortalDHX30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHX30  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDHX30
Mutations and Diseases : HGMDDHX30
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 DHX30
DgiDB (Drug Gene Interaction Database)DHX30
DoCM (Curated mutations)DHX30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DHX30 (select a term)
intoGenDHX30
Cancer3DDHX30(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616423    617804   
Orphanet
DisGeNETDHX30
MedgenDHX30
Genetic Testing Registry DHX30
NextProtQ7L2E3 [Medical]
TSGene22907
GENETestsDHX30
Target ValidationDHX30
Huge Navigator DHX30 [HugePedia]
snp3D : Map Gene to Disease22907
BioCentury BCIQDHX30
ClinGenDHX30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22907
Chemical/Pharm GKB GenePA27217
Clinical trialDHX30
Miscellaneous
canSAR (ICR)DHX30 (select the gene name)
DataMed IndexDHX30
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDHX30
EVEXDHX30
GoPubMedDHX30
iHOPDHX30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:40:21 CET 2019
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