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DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)

Identity

Alias_namesWBSCR18
Williams Beuren syndrome chromosome region 18
DnaJ (Hsp40) homolog, subfamily C, member 30
Other alias
HGNC (Hugo) DNAJC30
LocusID (NCBI) 84277
Atlas_Id 62569
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 73680918 and ends at 73683451 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)

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)DNAJC30   16410
Cards
Entrez_Gene (NCBI)DNAJC30  84277  DnaJ heat shock protein family (Hsp40) member C30
AliasesWBSCR18
GeneCards (Weizmann)DNAJC30
Ensembl hg19 (Hinxton)ENSG00000176410 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176410 [Gene_View]  chr7:73680918-73683451 [Contig_View]  DNAJC30 [Vega]
ICGC DataPortalENSG00000176410
TCGA cBioPortalDNAJC30
AceView (NCBI)DNAJC30
Genatlas (Paris)DNAJC30
WikiGenes84277
SOURCE (Princeton)DNAJC30
Genetics Home Reference (NIH)DNAJC30
Genomic and cartography
GoldenPath hg38 (UCSC)DNAJC30  -     chr7:73680918-73683451 -  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNAJC30  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblDNAJC30 - 7q11.23 [CytoView hg19]  DNAJC30 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIDNAJC30 [Mapview hg19]  DNAJC30 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF412025 AK058113 AK094305 BC005056 HQ448188
RefSeq transcript (Entrez)NM_032317
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNAJC30
Cluster EST : UnigeneHs.647046 [ NCBI ]
CGAP (NCI)Hs.647046
Alternative Splicing GalleryENSG00000176410
Gene ExpressionDNAJC30 [ NCBI-GEO ]   DNAJC30 [ EBI - ARRAY_EXPRESS ]   DNAJC30 [ SEEK ]   DNAJC30 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAJC30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84277
GTEX Portal (Tissue expression)DNAJC30
Human Protein AtlasENSG00000176410-DNAJC30 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96LL9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96LL9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96LL9
Splice isoforms : SwissVarQ96LL9
PhosPhoSitePlusQ96LL9
Domaine pattern : Prosite (Expaxy)DNAJ_2 (PS50076)   
Domains : Interpro (EBI)DnaJ_domain   
Domain families : Pfam (Sanger)DnaJ (PF00226)   
Domain families : Pfam (NCBI)pfam00226   
Domain families : Smart (EMBL)DnaJ (SM00271)  
Conserved Domain (NCBI)DNAJC30
DMDM Disease mutations84277
Blocks (Seattle)DNAJC30
PDB (SRS)2YUA   
PDB (PDBSum)2YUA   
PDB (IMB)2YUA   
PDB (RSDB)2YUA   
Structural Biology KnowledgeBase2YUA   
SCOP (Structural Classification of Proteins)2YUA   
CATH (Classification of proteins structures)2YUA   
SuperfamilyQ96LL9
Human Protein Atlas [tissue]ENSG00000176410-DNAJC30 [tissue]
Peptide AtlasQ96LL9
HPRD10303
IPIIPI00157375   IPI00910162   
Protein Interaction databases
DIP (DOE-UCLA)Q96LL9
IntAct (EBI)Q96LL9
FunCoupENSG00000176410
BioGRIDDNAJC30
STRING (EMBL)DNAJC30
ZODIACDNAJC30
Ontologies - Pathways
QuickGOQ96LL9
Ontology : AmiGOmitochondrion  cytosol  
Ontology : EGO-EBImitochondrion  cytosol  
NDEx NetworkDNAJC30
Atlas of Cancer Signalling NetworkDNAJC30
Wikipedia pathwaysDNAJC30
Orthology - Evolution
OrthoDB84277
GeneTree (enSembl)ENSG00000176410
Phylogenetic Trees/Animal Genes : TreeFamDNAJC30
HOVERGENQ96LL9
HOGENOMQ96LL9
Homologs : HomoloGeneDNAJC30
Homology/Alignments : Family Browser (UCSC)DNAJC30
Gene fusions - Rearrangements
Fusion: Tumor Portal DNAJC30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAJC30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAJC30
dbVarDNAJC30
ClinVarDNAJC30
1000_GenomesDNAJC30 
Exome Variant ServerDNAJC30
ExAC (Exome Aggregation Consortium)ENSG00000176410
GNOMAD BrowserENSG00000176410
Genetic variants : HAPMAP84277
Genomic Variants (DGV)DNAJC30 [DGVbeta]
DECIPHERDNAJC30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNAJC30 
Mutations
ICGC Data PortalDNAJC30 
TCGA Data PortalDNAJC30 
Broad Tumor PortalDNAJC30
OASIS PortalDNAJC30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAJC30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAJC30
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 DNAJC30
DgiDB (Drug Gene Interaction Database)DNAJC30
DoCM (Curated mutations)DNAJC30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAJC30 (select a term)
intoGenDNAJC30
Cancer3DDNAJC30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenDNAJC30
Genetic Testing Registry DNAJC30
NextProtQ96LL9 [Medical]
TSGene84277
GENETestsDNAJC30
Target ValidationDNAJC30
Huge Navigator DNAJC30 [HugePedia]
snp3D : Map Gene to Disease84277
BioCentury BCIQDNAJC30
ClinGenDNAJC30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84277
Chemical/Pharm GKB GenePA162383931
Clinical trialDNAJC30
Miscellaneous
canSAR (ICR)DNAJC30 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAJC30
EVEXDNAJC30
GoPubMedDNAJC30
iHOPDNAJC30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:44:55 CET 2017

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