Evidence Details for SMARCB1
Basic Information Top
| Gene Symbol: | SMARCB1 ( BAF47,INI1,RDT,RTPS1,SNF5,SNF5L1,Sfh1p,Snr1,hSNFS ) |
|---|---|
| Gene Full Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
| Band: | 22q11.23 |
| Quick Links | Entrez ID:6598; OMIM: 601607; Uniprot ID:SNF5_HUMAN; ENSEMBL ID: ENSG00000099956; HGNC ID: 11103 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SMARCB1|6598|nucleotide
ATGATGATGATGGCGCTGAGCAAGACCTTCGGGCAGAAGCCCGTGAAGTTCCAGCTGGAGGACGACGGCGAGTTCTACATGATCGGCTCCGAGGTGGGAAACTAC
CTCCGTATGTTCCGAGGTTCTCTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGCCACTGTGGAAGAGAGGAAGAAAATAGTTGCATCGTCACATGATCAC
GGATACACGACTCTAGCCACCAGTGTGACCCTGTTAAAAGCCTCGGAAGTGGAAGAGATTCTGGATGGCAACGATGAGAAGTACAAGGCTGTGTCCATCAGCACA
GAGCCCCCCACCTACCTCAGGGAACAGAAGGCCAAGAGGAACAGCCAGTGGGTACCCACCCTGCCCAACAGCTCCCACCACTTAGATGCCGTGCCATGCTCCACA
ACCATCAACAGGAACCGCATGGGCCGAGACAAGAAGAGAACCTTCCCCCTTTGCTTTGATGACCATGACCCAGCTGTGATCCATGAGAACGCATCTCAGCCCGAG
GTGCTGGTCCCCATCCGGCTGGACATGGAGATCGATGGGCAGAAGCTGCGAGACGCCTTCACCTGGAACATGAATGAGAAGTTGATGACGCCTGAGATGTTTTCA
GAAATCCTCTGTGACGATCTGGATTTGAACCCGCTGACGTTTGTGCCAGCCATCGCCTCTGCCATCAGACAGCAGATCGAGTCCTACCCCACGGACAGCATCCTG
GAGGACCAGTCAGACCAGCGCGTCATCATCAAGCTGAACATCCATGTGGGAAACATTTCCCTGGTGGACCAGTTTGAGTGGGACATGTCAGAGAAGGAGAACTCA
CCAGAGAAGTTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAG
ACCTACGCCTTCAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCT
GAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAA
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ATGATGATGATGGCGCTGAGCAAGACCTTCGGGCAGAAGCCCGTGAAGTTCCAGCTGGAGGACGACGGCGAGTTCTACATGATCGGCTCCGAGGTGGGAAACTAC
CTCCGTATGTTCCGAGGTTCTCTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGCCACTGTGGAAGAGAGGAAGAAAATAGTTGCATCGTCACATGATCAC
GGATACACGACTCTAGCCACCAGTGTGACCCTGTTAAAAGCCTCGGAAGTGGAAGAGATTCTGGATGGCAACGATGAGAAGTACAAGGCTGTGTCCATCAGCACA
GAGCCCCCCACCTACCTCAGGGAACAGAAGGCCAAGAGGAACAGCCAGTGGGTACCCACCCTGCCCAACAGCTCCCACCACTTAGATGCCGTGCCATGCTCCACA
ACCATCAACAGGAACCGCATGGGCCGAGACAAGAAGAGAACCTTCCCCCTTTGCTTTGATGACCATGACCCAGCTGTGATCCATGAGAACGCATCTCAGCCCGAG
GTGCTGGTCCCCATCCGGCTGGACATGGAGATCGATGGGCAGAAGCTGCGAGACGCCTTCACCTGGAACATGAATGAGAAGTTGATGACGCCTGAGATGTTTTCA
GAAATCCTCTGTGACGATCTGGATTTGAACCCGCTGACGTTTGTGCCAGCCATCGCCTCTGCCATCAGACAGCAGATCGAGTCCTACCCCACGGACAGCATCCTG
GAGGACCAGTCAGACCAGCGCGTCATCATCAAGCTGAACATCCATGTGGGAAACATTTCCCTGGTGGACCAGTTTGAGTGGGACATGTCAGAGAAGGAGAACTCA
CCAGAGAAGTTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAG
ACCTACGCCTTCAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCT
GAGATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAGGCGGATGAGGCGTCTTGCCAACACGGCCCCGGCCTGGTAA
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>SMARCB1|6598|protein
MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSIST
EPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFS
EILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQK
TYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW
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MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSIST
EPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFS
EILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQK
TYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.