Alias (NCBI) | hSNF5 |
| SNF5L1 |
| INI1 (integrase interactor 1) |
| BAF47 (BRG1-associated factor) |
HGNC (Hugo) |
SMARCB1 |
HGNC Alias symb | BAF47 |
| Ini1 |
| Snr1 |
| hSNFS |
| Sfh1p |
| RDT |
| PPP1R144 |
| SNF5 |
HGNC Alias name | "sucrose nonfermenting, yeast, homolog-like 1 |
| integrase interactor 1 |
| malignant rhabdoid tumor suppressor |
| protein phosphatase 1, regulatory subunit 144" |
HGNC Previous name | SNF5L1 |
LocusID (NCBI) |
6598 |
Atlas_Id |
169 |
Location |
22q11.23 [Link to chromosome band 22q11] |
Location_base_pair |
Starts at 23786966 and ends at 23838009 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping SMARCB1.png] |
Local_order |
distal to BCR |
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. |
Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B |
Cancer research. 1999 ; 59 (1) : 74-79. |
PMID 9892189 |
|
Paravertebral malignant rhabdoid tumor in infancy. In vitro studies of a familial tumor. |
Lynch HT, Shurin SB, Dahms BB, Izant RJ Jr, Lynch J, Danes BS |
Cancer. 1983 ; 52 (2) : 290-296. |
PMID 6861072 |
|
Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region. |
Morozov A, Yung E, Kalpana GV |
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (3) : 1120-1125. |
PMID 9448295 |
|
Components of the human SWI/SNF complex are enriched in active chromatin and are associated with the nuclear matrix. |
Reyes JC, Muchardt C, Yaniv M |
The Journal of cell biology. 1997 ; 137 (2) : 263-274. |
PMID 9128241 |
|
Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22. |
Rosty C, Peter M, Zucman J, Validire P, Delattre O, Aurias A |
Genes, chromosomes & cancer. 1998 ; 21 (2) : 82-89. |
PMID 9491318 |
|
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. |
Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O |
Nature. 1998 ; 394 (6689) : 203-206. |
PMID 9671307 |
|
Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center. |
Weeks DA, Beckwith JB, Mierau GW, Luckey DW |
The American journal of surgical pathology. 1989 ; 13 (6) : 439-458. |
PMID 2543225 |
|
Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. |
Wick MR, Ritter JH, Dehner LP |
Seminars in diagnostic pathology. 1995 ; 12 (3) : 233-248. |
PMID 8545590 |
|
| Nomenclature |
HGNC (Hugo) | SMARCB1 11103 |
LRG (Locus Reference Genomic) | LRG_520 |
| Cards |
Atlas | SMARCB1ID169 |
Entrez_Gene (NCBI) | SMARCB1 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1" |
Aliases | BAF47; CSS3; INI1; MRD15; |
| PPP1R144; RDT; RTPS1; SNF5; SNF5L1; SWNTS1; Sfh1p; Snr1; hSNFS |
GeneCards (Weizmann) | SMARCB1 |
Ensembl hg19 (Hinxton) | ENSG00000099956 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000099956 [Gene_View]  ENSG00000099956 [Sequence] chr22:23786966-23838009 [Contig_View] SMARCB1 [Vega] |
ICGC DataPortal | ENSG00000099956 |
TCGA cBioPortal | SMARCB1 |
AceView (NCBI) | SMARCB1 |
Genatlas (Paris) | SMARCB1 |
SOURCE (Princeton) | SMARCB1 |
Genetics Home Reference (NIH) | SMARCB1 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | SMARCB1 - chr22:23786966-23838009 + 22q11.23|22q11 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | SMARCB1 - 22q11.23|22q11 [Description] (hg19-Feb_2009) |
GoldenPath | SMARCB1 - 22q11.23|22q11 [CytoView hg19] SMARCB1 - 22q11.23|22q11 [CytoView hg38] |
ImmunoBase | ENSG00000099956 |
genome Data Viewer NCBI | SMARCB1 [Mapview hg19] |
OMIM | 162091 601607 609322 614608 |
| Gene and transcription |
Genbank (Entrez) | AB017523 AJ011737 AJ011738 AK021419 AK024025 |
RefSeq transcript (Entrez) | NM_001007468 NM_001317946 NM_001362877 NM_003073 |
RefSeq genomic (Entrez) | NC_000022 NG_009303 NT_187633 |
Consensus coding sequences : CCDS (NCBI) | SMARCB1 |
Alternative Splicing Gallery | ENSG00000099956 |
Gene Expression | SMARCB1 [ NCBI-GEO ] SMARCB1 [ EBI - ARRAY_EXPRESS ]
SMARCB1 [ SEEK ] SMARCB1 [ MEM ] |
Gene Expression Viewer (FireBrowse) | SMARCB1 [ Firebrowse - Broad ] |
Genevisible | Expression of SMARCB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 6598 |
GTEX Portal (Tissue expression) | SMARCB1 |
Human Protein Atlas | ENSG00000099956-SMARCB1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | Q12824 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | Q12824 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | Q12824 |
Splice isoforms : SwissVar | Q12824 |
PhosPhoSitePlus | Q12824 |
Domains : Interpro (EBI) | Sfh1/SNF5 SNF5 |
Domain families : Pfam (Sanger) | SNF5 (PF04855) |
Domain families : Pfam (NCBI) | pfam04855 |
Conserved Domain (NCBI) | SMARCB1 |
Blocks (Seattle) | SMARCB1 |
PDB (RSDB) | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
PDB Europe | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
PDB (PDBSum) | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
PDB (IMB) | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
Structural Biology KnowledgeBase | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
SCOP (Structural Classification of Proteins) | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
CATH (Classification of proteins structures) | 5AJ1 5GJK 5L7A 5L7B 6AX5 6UCH |
Superfamily | Q12824 |
Human Protein Atlas [tissue] | ENSG00000099956-SMARCB1 [tissue] |
Peptide Atlas | Q12824 |
HPRD | 03364 |
IPI | IPI00029695 IPI00745019 IPI01010351 IPI00879096 IPI00303439 IPI00879156 |
| Protein Interaction databases |
DIP (DOE-UCLA) | Q12824 |
IntAct (EBI) | Q12824 |
Complex Portal (EBI) | Q12824 "CPX-1196 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant |
| Q12824 CPX-1201 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant |
| Q12824 CPX-1194 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant |
| Q12824 CPX-1223 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant |
| Q12824 CPX-1226 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant |
| Q12824 CPX-1202 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant |
| Q12824 CPX-1203 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant |
| Q12824 CPX-1204 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant |
| Q12824 CPX-1205 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA2 variant |
| Q12824 CPX-1207 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant |
| Q12824 CPX-1210 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant |
| Q12824 CPX-1211 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
| Q12824 CPX-1213 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant |
| Q12824 CPX-1164 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA2 variant |
| Q12824 CPX-1199 Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A variant |
| Q12824 CPX-1206 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant |
| Q12824 CPX-1219 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| Q12824 CPX-1225 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant |
| Q12824 CPX-1195 Embryonic stem cell-specific SWI/SNF ATP-dependent chromatin remodeling complex |
| Q12824 CPX-1209 SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant |
| Q12824 CPX-1212 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| Q12824 CPX-1227 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant |
| Q12824 CPX-1228 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant |
| Q12824 CPX-1215 Neural progenitor-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| Q12824 CPX-1216 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant |
| Q12824 CPX-1217 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant |
| Q12824 CPX-1218 Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| Q12824 CPX-1220 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant |
| Q12824 CPX-1221 Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant |
| Q12824 CPX-1222 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1A-SMARCA4 variant |
| Q12824 CPX-1224 Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6A-ARID1B-SMARCA4 variant" |
BioGRID | SMARCB1 |
STRING (EMBL) | SMARCB1 |
ZODIAC | SMARCB1 |
| Ontologies - Pathways |
QuickGO | Q12824 |
Ontology : AmiGO | nuclear chromatin RNA polymerase II proximal promoter sequence-specific DNA binding RNA polymerase I CORE element sequence-specific DNA binding RNA polymerase I preinitiation complex assembly fibrillar center p53 binding DNA binding transcription coactivator activity transcription coactivator activity protein binding nucleus nucleus nucleoplasm nucleoplasm nucleolus DNA repair nucleosome disassembly nucleosome disassembly chromatin remodeling chromatin remodeling regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II cell cycle nervous system development DNA integration SWI/SNF complex SWI/SNF complex Tat protein binding nucleosomal DNA binding protein-containing complex brahma complex single stranded viral RNA replication via double stranded DNA intermediate ATP-dependent chromatin remodeling intracellular membrane-bounded organelle positive regulation by host of viral transcription positive regulation of transcription by RNA polymerase II positive regulation of DNA-binding transcription factor activity npBAF complex npBAF complex nBAF complex nBAF complex positive regulation of histone H4 acetylation negative regulation of histone H3-K9 dimethylation negative regulation of histone H3-K9 trimethylation positive regulation of transcription of nucleolar large rRNA by RNA polymerase I positive regulation of transcription of nucleolar large rRNA by RNA polymerase I positive regulation of glucose mediated signaling pathway positive regulation of histone H3-K9 acetylation regulation of histone H4-K16 acetylation |
Ontology : EGO-EBI | nuclear chromatin RNA polymerase II proximal promoter sequence-specific DNA binding RNA polymerase I CORE element sequence-specific DNA binding RNA polymerase I preinitiation complex assembly fibrillar center p53 binding DNA binding transcription coactivator activity transcription coactivator activity protein binding nucleus nucleus nucleoplasm nucleoplasm nucleolus DNA repair nucleosome disassembly nucleosome disassembly chromatin remodeling chromatin remodeling regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II cell cycle nervous system development DNA integration SWI/SNF complex SWI/SNF complex Tat protein binding nucleosomal DNA binding protein-containing complex brahma complex single stranded viral RNA replication via double stranded DNA intermediate ATP-dependent chromatin remodeling intracellular membrane-bounded organelle positive regulation by host of viral transcription positive regulation of transcription by RNA polymerase II positive regulation of DNA-binding transcription factor activity npBAF complex npBAF complex nBAF complex nBAF complex positive regulation of histone H4 acetylation negative regulation of histone H3-K9 dimethylation negative regulation of histone H3-K9 trimethylation positive regulation of transcription of nucleolar large rRNA by RNA polymerase I positive regulation of transcription of nucleolar large rRNA by RNA polymerase I positive regulation of glucose mediated signaling pathway positive regulation of histone H3-K9 acetylation regulation of histone H4-K16 acetylation |
REACTOME | Q12824 [protein] |
REACTOME Pathways | R-HSA-8939243 [pathway] |
NDEx Network | SMARCB1 |
Atlas of Cancer Signalling Network | SMARCB1 |
Wikipedia pathways | SMARCB1 |
| Orthology - Evolution |
OrthoDB | 6598 |
GeneTree (enSembl) | ENSG00000099956 |
Phylogenetic Trees/Animal Genes : TreeFam | SMARCB1 |
HOGENOM | Q12824 |
Homologs : HomoloGene | SMARCB1 |
Homology/Alignments : Family Browser (UCSC) | SMARCB1 |
| Gene fusions - Rearrangements |
Fusion : Mitelman | CABIN1/SMARCB1 [22q11.23/22q11.23]   |
Fusion : Mitelman | SMARCB1/MARK3 [22q11.23/14q32.32]   |
Fusion : Mitelman | SMARCB1/WASF2 [22q11.23/1p36.11]   |
Fusion Portal | CABIN1 22q11.23 SMARCB1 22q11.23 OV |
Fusion : Fusion_Hub | CABIN1--SMARCB1 CAPN2--SMARCB1 CNBP--SMARCB1 EDC3--SMARCB1 EDF1--SMARCB1 MALAT1--SMARCB1 MAML2--SMARCB1 MARK3--SMARCB1 RBBP7--SMARCB1 RBM39--SMARCB1 RORA--SMARCB1 SLC2A11--SMARCB1 SMARCB1--ANKRD28 SMARCB1--FTL SMARCB1--GNL1 |
| SMARCB1--HRASLS2 SMARCB1--LPCAT4 SMARCB1--ORM1 SMARCB1--SERTAD3 SMARCB1--SHE SMARCB1--SMARCB1 SMARCB1--SNW1 SMARCB1--SYN3 SMARCB1--TTC3 SMARCB1--TTC38 SPECC1L--SMARCB1 TBCB--SMARCB1 ZFP41--SMARCB1 |
Fusion : Quiver | SMARCB1 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | SMARCB1 [hg38] |
dbVar | SMARCB1 |
ClinVar | SMARCB1 |
Monarch | SMARCB1 |
1000_Genomes | SMARCB1 |
Exome Variant Server | SMARCB1 |
GNOMAD Browser | ENSG00000099956 |
Varsome Browser | SMARCB1 |
Genomic Variants (DGV) | SMARCB1 [DGVbeta] |
DECIPHER | SMARCB1 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | SMARCB1 |
| Mutations |
ICGC Data Portal | SMARCB1 |
TCGA Data Portal | SMARCB1 |
Broad Tumor Portal | SMARCB1 |
OASIS Portal | SMARCB1 [ Somatic mutations - Copy number] |
Cancer Gene: Census | SMARCB1 |
Somatic Mutations in Cancer : COSMIC | SMARCB1 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | SMARCB1 |
Mutations and Diseases : HGMD | SMARCB1 |
intOGen Portal | SMARCB1 |
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 |
LOVD (Leiden Open Variation Database) | Mendelian genes |
BioMuta | search SMARCB1 |
DgiDB (Drug Gene Interaction Database) | SMARCB1 |
DoCM (Curated mutations) | SMARCB1 (select the gene name) |
CIViC (Clinical Interpretations of Variants in Cancer) | SMARCB1 (select a term) |
intoGen | SMARCB1 |
OncoKB | SMARCB1 |
NCG6 (London) | select SMARCB1 |
Cancer3D | SMARCB1(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
---|
OMIM | 162091 601607 609322 614608 |
Orphanet | 321 20073 19153 12482 14539 |
DisGeNET | SMARCB1 |
Medgen | SMARCB1 |
Genetic Testing Registry | SMARCB1
|
NextProt | Q12824 [Medical] |
GENETests | SMARCB1 |
Target Validation | SMARCB1 |
Huge Navigator |
SMARCB1 [HugePedia] |
ClinGen | SMARCB1 (curated) |
| Clinical trials, drugs, therapy |
---|
MyCancerGenome | SMARCB1 |
Protein Interactions : CTD | |
Pharm GKB Gene | PA35953 |
Pharos | Q12824 |
Drug Sensitivity | SMARCB1 |
Clinical trial | SMARCB1 |
| Miscellaneous |
---|
canSAR (ICR) | SMARCB1 (select the gene name) |
Harmonizome | SMARCB1 |
DataMed Index | SMARCB1 |
Other database | http://cancergenome.broadinstitute.org/index.php?tgene=SMARCB1 |
| Probes |
---|
| Litterature |
---|
PubMed | 396 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | SMARCB1 |