| Nomenclature |
HGNC (Hugo) | SMARCA1 11097 |
| Cards |
Entrez_Gene (NCBI) | SMARCA1 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:129446506-129523490 [Contig_View] SMARCA1 [Vega] |
ICGC DataPortal | ENSG00000102038 |
TCGA cBioPortal | SMARCA1 |
AceView (NCBI) | SMARCA1 |
Genatlas (Paris) | SMARCA1 |
SOURCE (Princeton) | SMARCA1 |
Genetics Home Reference (NIH) | SMARCA1 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | SMARCA1 - chrX:129446506-129523490 - Xq25 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | SMARCA1 - Xq25 [Description] (hg19-Feb_2009) |
GoldenPath | SMARCA1 - Xq25 [CytoView hg19] SMARCA1 - Xq25 [CytoView hg38] |
ImmunoBase | ENSG00000102038 |
genome Data Viewer NCBI | SMARCA1 [Mapview hg19] |
OMIM | 300012 |
| Gene and transcription |
Genbank (Entrez) | AK026426 AK123541 AW614102 BC051825 BC117447 |
RefSeq transcript (Entrez) | NM_001282874 NM_001282875 NM_001378261 NM_001378262 NM_001378263 NM_001378264 NM_003069 NM_139035 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | SMARCA1 |
Alternative Splicing Gallery | ENSG00000102038 |
Gene Expression | SMARCA1 [ NCBI-GEO ] SMARCA1 [ EBI - ARRAY_EXPRESS ]
SMARCA1 [ SEEK ] SMARCA1 [ MEM ] |
Gene Expression Viewer (FireBrowse) | SMARCA1 [ Firebrowse - Broad ] |
Genevisible | Expression of SMARCA1 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 ] [ MEROPS ] |
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_HAND-dom ISWI_HAND-dom_sf ISWI_metazoa 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 |
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 |
BioGRID | SMARCA1 |
STRING (EMBL) | SMARCA1 |
ZODIAC | SMARCA1 |
| Ontologies - Pathways |
QuickGO | P28370 |
Ontology : AmiGO | DNA strand renaturation DNA binding helicase activity protein binding ATP binding nucleus 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 helicase activity protein binding ATP binding nucleus 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] |
dbVar | SMARCA1 |
ClinVar | SMARCA1 |
Monarch | SMARCA1 |
1000_Genomes | SMARCA1 |
Exome Variant Server | SMARCA1 |
GNOMAD Browser | ENSG00000102038 |
Varsome Browser | SMARCA1 |
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] |
Somatic Mutations in Cancer : COSMIC3D | SMARCA1 |
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] |
GENETests | SMARCA1 |
Target Validation | SMARCA1 |
Huge Navigator |
SMARCA1 [HugePedia] |
ClinGen | SMARCA1 |
| Clinical trials, drugs, therapy |
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MyCancerGenome | SMARCA1 |
Protein Interactions : CTD | |
Pharm GKB Gene | PA35947 |
Pharos | P28370 |
Clinical trial | SMARCA1 |
| Miscellaneous |
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canSAR (ICR) | SMARCA1 (select the gene name) |
Harmonizome | SMARCA1 |
DataMed Index | SMARCA1 |
| Probes |
---|
| Litterature |
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PubMed | 65 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | SMARCA1 |