AutismKB 2.0

Evidence Details for SMARCC2


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Basic Information Top
Gene Symbol:SMARCC2 ( BAF170,CRACC2,DKFZp313D0632,Rsc8 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Band: 12q13.2
Quick LinksEntrez ID:6601; OMIM: 601734; Uniprot ID:SMRC2_HUMAN; ENSEMBL ID: ENSG00000139613; HGNC ID: 11105
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCC2|6601|nucleotide
ATGGCGGTGCGGAAGAAGGACGGCGGCCCCAACGTGAAGTACTACGAGGCCGCGGACACCGTGACCCAGTTCGACAACGTGCGGCTGTGGCTCGGCAAGAACTAC
AAGAAGTATATACAAGCTGAACCACCCACCAACAAGTCCCTGTCTAGCCTGGTTGTACAGTTGCTACAATTTCAGGAAGAAGTTTTTGGCAAACATGTCAGCAAT
GCACCGCTCACTAAACTGCCGATCAAATGTTTCCTAGATTTCAAAGCGGGAGGCTCCTTGTGCCACATTCTTGCAGCTGCCTACAAATTCAAGAGTGACCAGGGA
TGGCGGCGTTACGATTTCCAGAATCCATCACGCATGGACCGCAATGTGGAAATGTTTATGACCATTGAGAAGTCCTTGGTGCAGAATAATTGCCTGTCTCGACCT
AACATTTTTCTGTGCCCAGAAATTGAGCCCAAACTACTAGGGAAATTAAAGGACATTATCAAGAGACACCAGGGAACAGTCACTGAGGATAAGAACAATGCCTCC
CATGTTGTGTATCCTGTCCCGGGGAATCTAGAAGAAGAGGAATGGGTACGACCAGTCATGAAGAGGGATAAGCAGGTTCTTCTGCACTGGGGCTACTATCCTGAC
AGTTACGACACGTGGATCCCAGCGAGTGAAATTGAGGCATCTGTGGAAGATGCTCCAACTCCTGAGAAACCTAGGAAGGTTCATGCAAAGTGGATCCTGGACACC
GACACCTTCAATGAATGGATGAATGAGGAAGACTATGAAGTAAATGATGACAAAAACCCTGTCTCCCGCCGAAAGAAGATTTCAGCCAAGACACTGACAGATGAG
GTGAACAGCCCAGATTCAGATCGACGGGACAAGAAGGGGGGAAACTATAAGAAGAGGAAGCGCTCCCCCTCTCCTTCACCAACCCCAGAAGCAAAGAAGAAAAAT
GCTAAGAAAGGTCCCTCAACACCTTACACTAAGTCAAAGCGTGGCCACAGAGAAGAGGAGCAAGAAGACCTGACAAAGGACATGGACGAGCCCTCACCAGTCCCC
AATGTAGAAGAGGTGACACTTCCCAAAACAGTCAACACAAAGAAAGACTCAGAGTCGGCCCCAGTCAAAGGCGGCACCATGACCGACCTGGATGAACAGGAAGAT
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>SMARCC2|6601|protein
MAVRKKDGGPNVKYYEAADTVTQFDNVRLWLGKNYKKYIQAEPPTNKSLSSLVVQLLQFQEEVFGKHVSNAPLTKLPIKCFLDFKAGGSLCHILAAAYKFKSDQG
WRRYDFQNPSRMDRNVEMFMTIEKSLVQNNCLSRPNIFLCPEIEPKLLGKLKDIIKRHQGTVTEDKNNASHVVYPVPGNLEEEEWVRPVMKRDKQVLLHWGYYPD
SYDTWIPASEIEASVEDAPTPEKPRKVHAKWILDTDTFNEWMNEEDYEVNDDKNPVSRRKKISAKTLTDEVNSPDSDRRDKKGGNYKKRKRSPSPSPTPEAKKKN
AKKGPSTPYTKSKRGHREEEQEDLTKDMDEPSPVPNVEEVTLPKTVNTKKDSESAPVKGGTMTDLDEQEDESMETTGKDEDENSTGNKGEQTKNPDLHEDNVTEQ
THHIIIPSYAAWFDYNSVHAIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLAGDVCAIMRVHAFLEQWGLINYQVDAESRPTPMGP
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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) 0 (3) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (6)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top