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SMARCD3 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3)

Identity

Other namesBAF60C
CRACD3
Rsc6p
HGNC (Hugo) SMARCD3
LocusID (NCBI) 6604
Atlas_Id 42338
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 150936059 and ends at 150945749 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EPAS1 (2p21) / SMARCD3 (7q36.1)SMARCD3 (7q36.1) / LRP11 (6q25.1)SMARCD3 (7q36.1) / NPIPB7 (16q23.1)

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)SMARCD3   11108
Cards
Entrez_Gene (NCBI)SMARCD3  6604  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
AliasesBAF60C; CRACD3; Rsc6p
GeneCards (Weizmann)SMARCD3
Ensembl hg19 (Hinxton)ENSG00000082014 [Gene_View]  chr7:150936059-150945749 [Contig_View]  SMARCD3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000082014 [Gene_View]  chr7:150936059-150945749 [Contig_View]  SMARCD3 [Vega]
ICGC DataPortalENSG00000082014
TCGA cBioPortalSMARCD3
AceView (NCBI)SMARCD3
Genatlas (Paris)SMARCD3
WikiGenes6604
SOURCE (Princeton)SMARCD3
Genomic and cartography
GoldenPath hg19 (UCSC)SMARCD3  -     chr7:150936059-150945749 -  7q36.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMARCD3  -     7q36.1   [Description]    (hg38-Dec_2013)
EnsemblSMARCD3 - 7q36.1 [CytoView hg19]  SMARCD3 - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBISMARCD3 [Mapview hg19]  SMARCD3 [Mapview hg38]
OMIM601737   
Gene and transcription
Genbank (Entrez)AK127595 AK297876 AK309500 AK316173 AY450430
RefSeq transcript (Entrez)NM_001003801 NM_001003802 NM_003078
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_029468 NT_007933 NW_004929333
Consensus coding sequences : CCDS (NCBI)SMARCD3
Cluster EST : UnigeneHs.647067 [ NCBI ]
CGAP (NCI)Hs.647067
Alternative Splicing GalleryENSG00000082014
Gene ExpressionSMARCD3 [ NCBI-GEO ]   SMARCD3 [ EBI - ARRAY_EXPRESS ]   SMARCD3 [ SEEK ]   SMARCD3 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6604
GTEX Portal (Tissue expression)SMARCD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6STE5 (Uniprot)
NextProtQ6STE5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6STE5
Splice isoforms : SwissVarQ6STE5 (Swissvar)
PhosPhoSitePlusQ6STE5
Domains : Interpro (EBI)SWIB_domain    SWIB_MDM2_domain   
Domain families : Pfam (Sanger)SWIB (PF02201)   
Domain families : Pfam (NCBI)pfam02201   
Domain families : Smart (EMBL)SWIB (SM00151)  
DMDM Disease mutations6604
Blocks (Seattle)SMARCD3
SuperfamilyQ6STE5
Human Protein AtlasENSG00000082014
Peptide AtlasQ6STE5
HPRD03440
IPIIPI00456146   IPI00106988   IPI00903013   IPI00922828   IPI00945222   IPI00945076   IPI00945439   
Protein Interaction databases
DIP (DOE-UCLA)Q6STE5
IntAct (EBI)Q6STE5
FunCoupENSG00000082014
BioGRIDSMARCD3
STRING (EMBL)SMARCD3
ZODIACSMARCD3
Ontologies - Pathways
QuickGOQ6STE5
Ontology : AmiGOnuclear chromatin  positive regulation of neuroblast proliferation  secondary heart field specification  cardiac right ventricle formation  neural retina development  chromatin binding  transcription coactivator activity  receptor binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  nucleosome disassembly  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription factor binding  positive regulation of G2/M transition of mitotic cell cycle  SWI/SNF complex  SWI/SNF complex  ligand-dependent nuclear receptor binding  ligand-dependent nuclear receptor transcription coactivator activity  nuclear hormone receptor binding  muscle cell differentiation  regulation of protein binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of smooth muscle cell differentiation  npBAF complex  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromatin  positive regulation of neuroblast proliferation  secondary heart field specification  cardiac right ventricle formation  neural retina development  chromatin binding  transcription coactivator activity  receptor binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  nucleosome disassembly  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription factor binding  positive regulation of G2/M transition of mitotic cell cycle  SWI/SNF complex  SWI/SNF complex  ligand-dependent nuclear receptor binding  ligand-dependent nuclear receptor transcription coactivator activity  nuclear hormone receptor binding  muscle cell differentiation  regulation of protein binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of smooth muscle cell differentiation  npBAF complex  npBAF complex  nBAF complex  
NDEx Network
Atlas of Cancer Signalling NetworkSMARCD3
Wikipedia pathwaysSMARCD3
Orthology - Evolution
OrthoDB6604
GeneTree (enSembl)ENSG00000082014
Phylogenetic Trees/Animal Genes : TreeFamSMARCD3
Homologs : HomoloGeneSMARCD3
Homology/Alignments : Family Browser (UCSC)SMARCD3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSMARCD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCD3
dbVarSMARCD3
ClinVarSMARCD3
1000_GenomesSMARCD3 
Exome Variant ServerSMARCD3
ExAC (Exome Aggregation Consortium)SMARCD3 (select the gene name)
Genetic variants : HAPMAP6604
Genomic Variants (DGV)SMARCD3 [DGVbeta]
Mutations
ICGC Data PortalSMARCD3 
TCGA Data PortalSMARCD3 
Broad Tumor PortalSMARCD3
OASIS PortalSMARCD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCD3 
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 SMARCD3
DgiDB (Drug Gene Interaction Database)SMARCD3
DoCM (Curated mutations)SMARCD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCD3 (select a term)
intoGenSMARCD3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:150936059-150945749  ENSG00000082014
CONAN: Copy Number AnalysisSMARCD3 
Mutations and Diseases : HGMDSMARCD3
OMIM601737   
MedgenSMARCD3
Genetic Testing Registry SMARCD3
NextProtQ6STE5 [Medical]
TSGene6604
GENETestsSMARCD3
Huge Navigator SMARCD3 [HugePedia]
snp3D : Map Gene to Disease6604
BioCentury BCIQSMARCD3
ClinGenSMARCD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6604
Chemical/Pharm GKB GenePA35958
Clinical trialSMARCD3
Miscellaneous
canSAR (ICR)SMARCD3 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCD3
EVEXSMARCD3
GoPubMedSMARCD3
iHOPSMARCD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:09:30 CEST 2016

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