AutismKB 2.0

Evidence Details for SMARCA4


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Basic Information Top
Gene Symbol:SMARCA4 ( BAF190,BRG1,FLJ39786,RTPS2,SNF2,SNF2-BETA,SNF2L4,SNF2LB,SWI2,hSNF2b )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Band: 19p13.2
Quick LinksEntrez ID:6597; OMIM: 603254; Uniprot ID:SMCA4_HUMAN; ENSEMBL ID: ENSG00000127616; HGNC ID: 11100
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCA4|6597|nucleotide
ATGTCCACTCCAGACCCACCCCTGGGCGGAACTCCTCGGCCAGGTCCTTCCCCGGGCCCTGGCCCTTCCCCTGGAGCCATGCTGGGCCCTAGCCCGGGTCCCTCG
CCGGGCTCCGCCCACAGCATGATGGGGCCCAGCCCAGGGCCGCCCTCAGCAGGACACCCCATCCCCACCCAGGGGCCTGGAGGGTACCCTCAGGACAACATGCAC
CAGATGCACAAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGG
ATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCT
TCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAAC
CAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATG
CCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCA
CCTCCAAATTACAGCAGGCCTCATGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCT
CCCAAGCCCTGGCCTGAAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCC
CCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGC
CGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGCTGCAGGCTCGCATCGCACACCGAATTCAGGAACTT
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>SMARCA4|6597|protein
MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQGPGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAG
MGPPPSPMDQHSQGYPSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQLRAQIMAYKMLARGQPLPDHLQMAVQGKRPM
PGMQQQMPTLPPPSVSATGPGPGPGPGPGPGPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQKLIPPQPTGRPSPAP
PAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRGLDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV
VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKE
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Evidence summary Top

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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 (1) 0 (0) 0 (0) 0 (0) 1 (2) 1 (1) 0 (0) 0 (0) 13 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top