AutismKB 2.0

Evidence Details for SMARCC1


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Basic Information Top
Gene Symbol:SMARCC1 ( BAF155,CRACC1,Rsc8,SRG3,SWI3 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
Band: 3p21.31
Quick LinksEntrez ID:6599; OMIM: 601732; Uniprot ID:SMRC1_HUMAN; ENSEMBL ID: ENSG00000173473; HGNC ID: 11104
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCC1|6599|nucleotide
ATGGCCGCAGCGGCGGGCGGCGGCGGGCCGGGGACAGCGGTAGGCGCCACGGGCTCGGGGATTGCGGCGGCAGCCGCAGGCCTAGCTGTTTATCGACGGAAGGAT
GGGGGCCCGGCCACCAAGTTTTGGGAGAGCCCGGAGACGGTGTCCCAGCTGGATTCGGTGCGGGTCTGGCTGGGCAAGCACTACAAGAAGTATGTTCATGCGGAT
GCTCCTACCAATAAAACACTGGCTGGGCTGGTGGTGCAGCTTCTTCAGTTCCAGGAAGATGCCTTTGGGAAGCATGTCACCAACCCGGCCTTCACCAAACTCCCT
GCAAAGTGTTTCATGGATTTCAAAGCTGGAGGCGCCTTATGTCACATTCTTGGGGCTGCTTACAAGTATAAAAATGAACAGGGATGGCGGAGGTTTGACCTACAG
AACCCATCTCGAATGGATCGTAATGTGGAAATGTTTATGAACATTGAAAAAACATTGGTGCAGAACAATTGTTTGACCAGACCCAACATCTACCTCATTCCAGAC
ATTGATCTGAAGTTGGCTAACAAATTGAAAGATATCATCAAACGACATCAGGGAACATTTACGGATGAGAAGTCAAAAGCTTCCCACCACATTTACCCATATTCT
TCCTCACAAGACGATGAAGAATGGTTGAGACCGGTGATGAGAAAAGAGAAGCAAGTGTTAGTGCATTGGGGCTTTTACCCAGACAGCTATGATACTTGGGTCCAT
AGTAATGATGTTGATGCTGAAATTGAAGATCCACCAATTCCAGAAAAACCATGGAAGGTTCATGTGAAATGGATTTTGGACACTGATATTTTCAATGAATGGATG
AATGAGGAGGATTATGAGGTGGATGAAAATAGGAAGCCTGTGAGTTTTCGTCAGCGGATTTCAACCAAGAATGAAGAGCCAGTCAGAAGTCCAGAAAGAAGAGAT
AGAAAAGCATCAGCTAATGCTCGAAAGAGGAAACATTCGCCTTCGCCTCCCCCTCCGACACCAACAGAATCACGGAAGAAGAGTGGGAAGAAAGGCCAAGCTAGC
CTTTATGGGAAGCGCAGAAGTCAGAAAGAGGAAGATGAGCAAGAAGATCTAACCAAGGATATGGAAGACCCAACACCTGTACCCAATATAGAAGAAGTAGTACTT
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>SMARCC1|6599|protein
MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLP
AKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYS
SSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRD
RKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGG
KEDEDPAKGDQSRSVDLGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRV
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top