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SMARCC1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1)

Identity

Alias_namesSWI/SNF related
Alias_symbol (synonym)BAF155
SRG3
Rsc8
CRACC1
Other aliasSWI3
HGNC (Hugo) SMARCC1
LocusID (NCBI) 6599
Atlas_Id 47173
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 47585888 and ends at 47781915 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)
ARPC1A (7q22.1) / SMARCC1 (3p21.31)DOCK3 (3p21.2) / SMARCC1 (3p21.31)EIF3A (10q26.11) / SMARCC1 (3p21.31)
FARP2 (2q37.3) / SMARCC1 (3p21.31)GUK1 (1q42.13) / SMARCC1 (3p21.31)MAP4 (3p21.31) / SMARCC1 (3p21.31)
OAZ2 (15q22.31) / SMARCC1 (3p21.31)SCAP (3p21.31) / SMARCC1 (3p21.31)SMARCC1 (3p21.31) / DOCK3 (3p21.2)
SMARCC1 (3p21.31) / MSN (Xq12)SMARCC1 (3p21.31) / PACS2 (14q32.33)SMARCC1 (3p21.31) / SHISA5 (3p21.31)
SMARCC1 (3p21.31) / SMARCC1 (3p21.31)SMARCC1 (3p21.31) / SPINK8 (3p21.31)UBA52 (19p13.11) / SMARCC1 (3p21.31)
UQCRC1 (3p21.31) / SMARCC1 (3p21.31)ZHX2 (8q24.13) / SMARCC1 (3p21.31)DOCK3 3p21.2 / SMARCC1 3p21.31
SCAP 3p21.31 / SMARCC1 3p21.31SMARCC1 3p21.31 / DOCK3 3p21.2SMARCC1 3p21.31 / SHISA5 3p21.31
SMARCC1 3p21.31 / SPINK8 3p21.31UQCRC1 3p21.31 / SMARCC1 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

 


External links

Nomenclature
HGNC (Hugo)SMARCC1   11104
Cards
Entrez_Gene (NCBI)SMARCC1  6599  SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
AliasesBAF155; CRACC1; Rsc8; SRG3; 
SWI3
GeneCards (Weizmann)SMARCC1
Ensembl hg19 (Hinxton)ENSG00000173473 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173473 [Gene_View]  chr3:47585888-47781915 [Contig_View]  SMARCC1 [Vega]
ICGC DataPortalENSG00000173473
TCGA cBioPortalSMARCC1
AceView (NCBI)SMARCC1
Genatlas (Paris)SMARCC1
WikiGenes6599
SOURCE (Princeton)SMARCC1
Genetics Home Reference (NIH)SMARCC1
Genomic and cartography
GoldenPath hg38 (UCSC)SMARCC1  -     chr3:47585888-47781915 -  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCC1  -     3p21.31   [Description]    (hg19-Feb_2009)
EnsemblSMARCC1 - 3p21.31 [CytoView hg19]  SMARCC1 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBISMARCC1 [Mapview hg19]  SMARCC1 [Mapview hg38]
OMIM601732   
Gene and transcription
Genbank (Entrez)AK302412 AK302541 BC012101 BC021862 BC032564
RefSeq transcript (Entrez)NM_003074
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMARCC1
Cluster EST : UnigeneHs.476179 [ NCBI ]
CGAP (NCI)Hs.476179
Alternative Splicing GalleryENSG00000173473
Gene ExpressionSMARCC1 [ NCBI-GEO ]   SMARCC1 [ EBI - ARRAY_EXPRESS ]   SMARCC1 [ SEEK ]   SMARCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6599
GTEX Portal (Tissue expression)SMARCC1
Human Protein AtlasENSG00000173473-SMARCC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92922   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92922  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92922
Splice isoforms : SwissVarQ92922
PhosPhoSitePlusQ92922
Domaine pattern : Prosite (Expaxy)SANT (PS51293)    SWIRM (PS50934)   
Domains : Interpro (EBI)BAF155    BRCT_dom    Chromo/chromo_shadow_dom    Homeobox-like    SANT/Myb    SANT_dom    SMARCC_C    SMARCC_N    SWIRM    SWIRM-assoc    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Myb_DNA-binding (PF00249)    SWIRM (PF04433)    SWIRM-assoc_1 (PF16495)    SWIRM-assoc_2 (PF16496)    SWIRM-assoc_3 (PF16498)   
Domain families : Pfam (NCBI)pfam00249    pfam04433    pfam16495    pfam16496    pfam16498   
Domain families : Smart (EMBL)CHROMO (SM00298)  SANT (SM00717)  
Conserved Domain (NCBI)SMARCC1
DMDM Disease mutations6599
Blocks (Seattle)SMARCC1
PDB (SRS)2YUS   
PDB (PDBSum)2YUS   
PDB (IMB)2YUS   
PDB (RSDB)2YUS   
Structural Biology KnowledgeBase2YUS   
SCOP (Structural Classification of Proteins)2YUS   
CATH (Classification of proteins structures)2YUS   
SuperfamilyQ92922
Human Protein Atlas [tissue]ENSG00000173473-SMARCC1 [tissue]
Peptide AtlasQ92922
HPRD03435
IPIIPI00234252   IPI00925226   
Protein Interaction databases
DIP (DOE-UCLA)Q92922
IntAct (EBI)Q92922
FunCoupENSG00000173473
BioGRIDSMARCC1
STRING (EMBL)SMARCC1
ZODIACSMARCC1
Ontologies - Pathways
QuickGOQ92922
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  XY body  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  nucleosome disassembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  insulin receptor signaling pathway  animal organ morphogenesis  SWI/SNF complex  covalent chromatin modification  prostate gland development  nucleosomal DNA binding  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  ATP-dependent chromatin remodeling  protein complex  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  npBAF complex  nBAF complex  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  XY body  transcription coactivator activity  protein binding  nucleoplasm  nucleoplasm  nucleosome disassembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  nervous system development  insulin receptor signaling pathway  animal organ morphogenesis  SWI/SNF complex  covalent chromatin modification  prostate gland development  nucleosomal DNA binding  negative regulation of proteasomal ubiquitin-dependent protein catabolic process  ATP-dependent chromatin remodeling  protein complex  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  npBAF complex  nBAF complex  
Pathways : BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]    Control of Gene Expression by Vitamin D Receptor [Genes]   
NDEx NetworkSMARCC1
Atlas of Cancer Signalling NetworkSMARCC1
Wikipedia pathwaysSMARCC1
Orthology - Evolution
OrthoDB6599
GeneTree (enSembl)ENSG00000173473
Phylogenetic Trees/Animal Genes : TreeFamSMARCC1
HOVERGENQ92922
HOGENOMQ92922
Homologs : HomoloGeneSMARCC1
Homology/Alignments : Family Browser (UCSC)SMARCC1
Gene fusions - Rearrangements
Fusion : MitelmanDOCK3/SMARCC1 [3p21.2/3p21.31]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSCAP/SMARCC1 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSMARCC1/DOCK3 [3p21.31/3p21.2]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSMARCC1/SHISA5 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSMARCC1/SPINK8 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion : MitelmanUQCRC1/SMARCC1 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion: TCGA_MDACCDOCK3 3p21.2 SMARCC1 3p21.31 LUAD
Fusion: TCGA_MDACCSCAP 3p21.31 SMARCC1 3p21.31 HNSC
Fusion: TCGA_MDACCSMARCC1 3p21.31 DOCK3 3p21.2 BLCA
Fusion: TCGA_MDACCSMARCC1 3p21.31 SHISA5 3p21.31 BLCA
Fusion: TCGA_MDACCSMARCC1 3p21.31 SPINK8 3p21.31 PRAD
Fusion: TCGA_MDACCUQCRC1 3p21.31 SMARCC1 3p21.31 LUAD
Tumor Fusion PortalSMARCC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCC1
dbVarSMARCC1
ClinVarSMARCC1
1000_GenomesSMARCC1 
Exome Variant ServerSMARCC1
ExAC (Exome Aggregation Consortium)ENSG00000173473
GNOMAD BrowserENSG00000173473
Genetic variants : HAPMAP6599
Genomic Variants (DGV)SMARCC1 [DGVbeta]
DECIPHERSMARCC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMARCC1 
Mutations
ICGC Data PortalSMARCC1 
TCGA Data PortalSMARCC1 
Broad Tumor PortalSMARCC1
OASIS PortalSMARCC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMARCC1
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 SMARCC1
DgiDB (Drug Gene Interaction Database)SMARCC1
DoCM (Curated mutations)SMARCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCC1 (select a term)
intoGenSMARCC1
Cancer3DSMARCC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601732   
Orphanet
DisGeNETSMARCC1
MedgenSMARCC1
Genetic Testing Registry SMARCC1
NextProtQ92922 [Medical]
TSGene6599
GENETestsSMARCC1
Target ValidationSMARCC1
Huge Navigator SMARCC1 [HugePedia]
snp3D : Map Gene to Disease6599
BioCentury BCIQSMARCC1
ClinGenSMARCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6599
Chemical/Pharm GKB GenePA35954
Clinical trialSMARCC1
Miscellaneous
canSAR (ICR)SMARCC1 (select the gene name)
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCC1
EVEXSMARCC1
GoPubMedSMARCC1
iHOPSMARCC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:35:34 CET 2017

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