| 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 |
| Aliases | ISWI; NURF140; SNF2L; SNF2L1; |
| SNF2LB; SNF2LT; SWI; SWI2; hSNF2L |
| GeneCards (Weizmann) | SMARCA1 |
| Ensembl hg19 (Hinxton) | ENSG00000102038 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000102038 [Gene_View] ENSG00000102038 [Sequence] chrX:129446501-129523505 [Contig_View] SMARCA1 [Vega] |
| ICGC DataPortal | ENSG00000102038 |
| TCGA cBioPortal | SMARCA1 |
| AceView (NCBI) | SMARCA1 |
| Genatlas (Paris) | SMARCA1 |
| WikiGenes | 6594 |
| SOURCE (Princeton) | SMARCA1 |
| Genetics Home Reference (NIH) | SMARCA1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SMARCA1 - chrX:129446501-129523505 - Xq25 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SMARCA1 - Xq25 [Description] (hg19-Feb_2009) |
SMARCA1 - Xq25 [CytoView hg19] SMARCA1 - Xq25 [CytoView hg38] |
| Mapping of homologs : NCBI | SMARCA1 [Mapview hg19] SMARCA1 [Mapview hg38] |
| OMIM | 300012 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK026426 AK123541 AW614102 BC051825 BC117447 |
| RefSeq transcript (Entrez) | NM_001282874 NM_001282875 NM_003069 NM_139035 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | SMARCA1 |
| Cluster EST : Unigene | Hs.152292 [ NCBI ] |
| CGAP (NCI) | Hs.152292 |
| Alternative Splicing Gallery | ENSG00000102038 |
| Gene Expression | SMARCA1 [ 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] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6594 |
| GTEX Portal (Tissue expression) | SMARCA1 |
| Human Protein Atlas | ENSG00000102038-SMARCA1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P28370 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P28370 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P28370 |
| Splice isoforms : SwissVar | P28370 |
| Catalytic activity : Enzyme | 3.6.4.- [ Enzyme-Expasy ] 3.6.4.-3.6.4.- [ IntEnz-EBI ] 3.6.4.- [ BRENDA ] 3.6.4.- [ KEGG ] |
| PhosPhoSitePlus | P28370 |
| Domaine pattern : Prosite (Expaxy) | HELICASE_ATP_BIND_1 (PS51192) HELICASE_CTER (PS51194) SANT (PS51293) |
| Domains : Interpro (EBI) | DBINO Helicase_ATP-bd Helicase_C Homeobox-like_sf ISWI ISWI_HAND-dom ISWI_HAND-dom_sf P-loop_NTPase SANT/Myb SANT_dom SLIDE SNF2-like_sf 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 mutations | 6594 |
| Blocks (Seattle) | SMARCA1 |
| Superfamily | P28370 |
| Human Protein Atlas [tissue] | ENSG00000102038-SMARCA1 [tissue] |
| Peptide Atlas | P28370 |
| HPRD | 02055 |
| IPI | IPI00646130 IPI00216046 IPI00647510 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P28370 |
| IntAct (EBI) | P28370 |
| FunCoup | ENSG00000102038 |
| BioGRID | SMARCA1 |
| STRING (EMBL) | SMARCA1 |
| ZODIAC | SMARCA1 |
| Ontologies - Pathways |
|---|
| QuickGO | P28370 |
| Ontology : AmiGO | DNA strand renaturation DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding helicase activity protein binding ATP binding nucleus nucleoplasm chromatin remodeling brain development DNA-dependent ATPase activity transcription factor binding NURF complex neuron differentiation nucleosome binding annealing helicase activity ATP-dependent chromatin remodeling intracellular membrane-bounded organelle positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II nucleosome-dependent ATPase activity CERF complex |
| Ontology : EGO-EBI | DNA strand renaturation DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding helicase activity protein binding ATP binding nucleus nucleoplasm chromatin remodeling brain development DNA-dependent ATPase activity transcription factor binding NURF complex neuron differentiation nucleosome binding annealing helicase activity ATP-dependent chromatin remodeling intracellular membrane-bounded organelle positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II nucleosome-dependent ATPase activity CERF complex |
| NDEx Network | SMARCA1 |
| Atlas of Cancer Signalling Network | SMARCA1 |
| Wikipedia pathways | SMARCA1 |
| Orthology - Evolution |
|---|
| OrthoDB | 6594 |
| GeneTree (enSembl) | ENSG00000102038 |
| Phylogenetic Trees/Animal Genes : TreeFam | SMARCA1 |
| HOGENOM | P28370 |
| Homologs : HomoloGene | SMARCA1 |
| Homology/Alignments : Family Browser (UCSC) | SMARCA1 |
| Gene fusions - Rearrangements |
|---|
| Fusion Portal | CAPN2 1q41 SMARCA1 Xq25 PRAD |
| Fusion Portal | SMARCA1 Xq25 ALG13 Xq23 PRAD |
| Fusion : Quiver | SMARCA1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SMARCA1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SMARCA1 |
| dbVar | SMARCA1 |
| ClinVar | SMARCA1 |
| 1000_Genomes | SMARCA1 |
| Exome Variant Server | SMARCA1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000102038 |
| GNOMAD Browser | ENSG00000102038 |
| Varsome Browser | SMARCA1 |
| Genetic variants : HAPMAP | 6594 |
| Genomic Variants (DGV) | SMARCA1 [DGVbeta] |
| DECIPHER | SMARCA1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SMARCA1 |
| Mutations |
|---|
| ICGC Data Portal | SMARCA1 |
| TCGA Data Portal | SMARCA1 |
| Broad Tumor Portal | SMARCA1 |
| OASIS Portal | SMARCA1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | SMARCA1 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SMARCA1 |
| intOGen Portal | SMARCA1 |
| 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 |
| BioMuta | search 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) |
| intoGen | SMARCA1 |
| Cancer3D | SMARCA1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 300012 |
| Orphanet | |
| DisGeNET | SMARCA1 |
| Medgen | SMARCA1 |
| Genetic Testing Registry | SMARCA1
|
| NextProt | P28370 [Medical] |
| TSGene | 6594 |
| GENETests | SMARCA1 |
| Target Validation | SMARCA1 |
| Huge Navigator |
SMARCA1 [HugePedia] |
| snp3D : Map Gene to Disease | 6594 |
| BioCentury BCIQ | SMARCA1 |
| ClinGen | SMARCA1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6594 |
| Chemical/Pharm GKB Gene | PA35947 |
| Clinical trial | SMARCA1 |
| Miscellaneous |
|---|
| canSAR (ICR) | SMARCA1 (select the gene name) |
| DataMed Index | SMARCA1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 47 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SMARCA1 |
| EVEX | SMARCA1 |
| GoPubMed | SMARCA1 |
| iHOP | SMARCA1 |
