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SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)

Identity

Alias_namesSNF2L1
SNF2L
Alias_symbol (synonym)SNF2LB
NURF140
ISWI
SWI
hSNF2L
HGNC (Hugo) SMARCA1
LocusID (NCBI) 6594
Atlas_Id 42330
Location Xq25  [Link to chromosome band Xq25]
Location_base_pair Starts at 128580478 and ends at 128657482 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAPN2 (1q41) / SMARCA1 (Xq25)SMARCA1 (Xq25) / ALG13 (Xq23)SMARCA1 (Xq25) / CNP (17q21.2)
SMARCA1 (Xq25) / SMARCA1 (Xq25)CAPN2 1q41 / SMARCA1 Xq25SMARCA1 Xq25 / ALG13 Xq23

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)SMARCA1   11097
Cards
Entrez_Gene (NCBI)SMARCA1  6594  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
AliasesISWI; NURF140; SNF2L; SNF2L1; 
SNF2LB; SNF2LT; SWI; SWI2; hSNF2L
GeneCards (Weizmann)SMARCA1
Ensembl hg19 (Hinxton)ENSG00000102038 [Gene_View]  chrX:128580478-128657482 [Contig_View]  SMARCA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102038 [Gene_View]  chrX:128580478-128657482 [Contig_View]  SMARCA1 [Vega]
ICGC DataPortalENSG00000102038
TCGA cBioPortalSMARCA1
AceView (NCBI)SMARCA1
Genatlas (Paris)SMARCA1
WikiGenes6594
SOURCE (Princeton)SMARCA1
Genetics Home Reference (NIH)SMARCA1
Genomic and cartography
GoldenPath hg19 (UCSC)SMARCA1  -     chrX:128580478-128657482 -  Xq25   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMARCA1  -     Xq25   [Description]    (hg38-Dec_2013)
EnsemblSMARCA1 - Xq25 [CytoView hg19]  SMARCA1 - Xq25 [CytoView hg38]
Mapping of homologs : NCBISMARCA1 [Mapview hg19]  SMARCA1 [Mapview hg38]
OMIM300012   
Gene and transcription
Genbank (Entrez)AK026426 AK123541 AW614102 BC051825 BC117447
RefSeq transcript (Entrez)NM_001282874 NM_001282875 NM_003069 NM_139035
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012526 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)SMARCA1
Cluster EST : UnigeneHs.152292 [ NCBI ]
CGAP (NCI)Hs.152292
Alternative Splicing GalleryENSG00000102038
Gene ExpressionSMARCA1 [ NCBI-GEO ]   SMARCA1 [ EBI - ARRAY_EXPRESS ]   SMARCA1 [ SEEK ]   SMARCA1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6594
GTEX Portal (Tissue expression)SMARCA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28370   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28370  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28370
Splice isoforms : SwissVarP28370
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
PhosPhoSitePlusP28370
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    SANT (PS51293)   
Domains : Interpro (EBI)DBINO    Helicase_ATP-bd    Helicase_C    Homeodomain-like    ISWI    ISWI_HAND-dom    P-loop_NTPase    SANT/Myb    SANT_dom    SLIDE    SNF2_N   
Domain families : Pfam (Sanger)DBINO (PF13892)    HAND (PF09110)    Helicase_C (PF00271)    SLIDE (PF09111)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam13892    pfam09110    pfam00271    pfam09111    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  SANT (SM00717)  
Conserved Domain (NCBI)SMARCA1
DMDM Disease mutations6594
Blocks (Seattle)SMARCA1
SuperfamilyP28370
Human Protein AtlasENSG00000102038
Peptide AtlasP28370
HPRD02055
IPIIPI00646130   IPI00216046   IPI00647510   
Protein Interaction databases
DIP (DOE-UCLA)P28370
IntAct (EBI)P28370
FunCoupENSG00000102038
BioGRIDSMARCA1
STRING (EMBL)SMARCA1
ZODIACSMARCA1
Ontologies - Pathways
QuickGOP28370
Ontology : AmiGODNA strand renaturation  DNA binding  helicase activity  protein binding  ATP binding  nucleus  chromatin remodeling  transcription, DNA-templated  brain development  DNA-dependent ATPase activity  NURF complex  neuron differentiation  nucleosome binding  annealing helicase activity  ATP-dependent chromatin remodeling  positive regulation of transcription, DNA-templated  nucleosome-dependent ATPase activity  CERF complex  
Ontology : EGO-EBIDNA strand renaturation  DNA binding  helicase activity  protein binding  ATP binding  nucleus  chromatin remodeling  transcription, DNA-templated  brain development  DNA-dependent ATPase activity  NURF complex  neuron differentiation  nucleosome binding  annealing helicase activity  ATP-dependent chromatin remodeling  positive regulation of transcription, DNA-templated  nucleosome-dependent ATPase activity  CERF complex  
NDEx NetworkSMARCA1
Atlas of Cancer Signalling NetworkSMARCA1
Wikipedia pathwaysSMARCA1
Orthology - Evolution
OrthoDB6594
GeneTree (enSembl)ENSG00000102038
Phylogenetic Trees/Animal Genes : TreeFamSMARCA1
HOVERGENP28370
HOGENOMP28370
Homologs : HomoloGeneSMARCA1
Homology/Alignments : Family Browser (UCSC)SMARCA1
Gene fusions - Rearrangements
Fusion: TCGACAPN2 1q41 SMARCA1 Xq25 PRAD
Fusion: TCGASMARCA1 Xq25 ALG13 Xq23 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCA1
dbVarSMARCA1
ClinVarSMARCA1
1000_GenomesSMARCA1 
Exome Variant ServerSMARCA1
ExAC (Exome Aggregation Consortium)SMARCA1 (select the gene name)
Genetic variants : HAPMAP6594
Genomic Variants (DGV)SMARCA1 [DGVbeta]
DECIPHER (Syndromes)X:128580478-128657482  ENSG00000102038
CONAN: Copy Number AnalysisSMARCA1 
Mutations
ICGC Data PortalSMARCA1 
TCGA Data PortalSMARCA1 
Broad Tumor PortalSMARCA1
OASIS PortalSMARCA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMARCA1
intOGen PortalSMARCA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch SMARCA1
DgiDB (Drug Gene Interaction Database)SMARCA1
DoCM (Curated mutations)SMARCA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMARCA1 (select a term)
intoGenSMARCA1
Cancer3DSMARCA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300012   
Orphanet
MedgenSMARCA1
Genetic Testing Registry SMARCA1
NextProtP28370 [Medical]
TSGene6594
GENETestsSMARCA1
Huge Navigator SMARCA1 [HugePedia]
snp3D : Map Gene to Disease6594
BioCentury BCIQSMARCA1
ClinGenSMARCA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6594
Chemical/Pharm GKB GenePA35947
Clinical trialSMARCA1
Miscellaneous
canSAR (ICR)SMARCA1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMARCA1
EVEXSMARCA1
GoPubMedSMARCA1
iHOPSMARCA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:51:57 CET 2016

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