AutismKB 2.0

Evidence Details for SMARCD1


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Basic Information Top
Gene Symbol:SMARCD1 ( BAF60A,CRACD1,Rsc6p )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Band: 12q13.12
Quick LinksEntrez ID:6602; OMIM: 601735; Uniprot ID:SMRD1_HUMAN; ENSEMBL ID: ENSG00000066117; HGNC ID: 11106
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCD1|6602|nucleotide
ATGGCGGCCCGGGCGGGTTTCCAGTCTGTGGCTCCAAGCGGCGGCGCCGGAGCCTCAGGAGGGGCGGGCGCGGCTGCTGCCTTGGGCCCGGGCGGAACTCCGGGG
CCTCCTGTGCGAATGGGCCCGGCTCCGGGTCAAGGGCTGTACCGCTCCCCGATGCCCGGAGCGGCCTATCCGAGACCAGGTATGTTGCCAGGCAGCCGAATGACA
CCTCAGGGACCTTCCATGGGACCCCCTGGCTATGGGGGGAACCCTTCAGTCCGACCTGGCCTGGCCCAGTCAGGGATGGATCAGTCCCGCAAGAGACCTGCCCCT
CAGCAGATCCAGCAGGTCCAGCAGCAGGCGGTCCAAAATCGAAACCACAATGCAAAGAAAAAGAAGATGGCTGACAAAATTCTACCTCAAAGGATTCGTGAACTG
GTACCAGAATCCCAGGCCTATATGGATCTCTTGGCTTTTGAAAGGAAACTGGACCAGACTATCATGAGGAAACGGCTAGATATCCAAGAGGCCTTGAAACGTCCC
ATCAAGCAAAAACGGAAGCTGCGAATTTTCATTTCTAACACTTTCAATCCGGCTAAGTCAGATGCCGAGGATGGGGAAGGGACGGTGGCTTCCTGGGAGCTTCGG
GTAGAAGGACGGCTCCTGGAGGATTCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGAC
AAAGACCTGTATGGGCCAGACAACCATCTGGTAGAATGGCACAGGACCGCCACTACCCAGGAGACCGATGGCTTTCAGGTGAAGCGGCCGGGAGACGTGAATGTA
CGGTGTACTGTCCTACTGATGCTGGATTACCAGCCTCCCCAGTTTAAATTAGACCCCCGCCTAGCTCGACTCCTGGGCATCCATACCCAGACTCGTCCAGTGATC
ATCCAAGCACTGTGGCAATATATTAAGACACATAAGCTCCAGGACCCTCACGAGCGGGAGTTTGTCATCTGTGACAAGTACCTGCAGCAGATCTTTGAGTCTCAA
CGTATGAAGTTTTCAGAGATCCCTCAGCGGCTCCATGCCTTGCTTATGCCACCAGAACCTATCATCATTAATCATGTCATCAGTGTTGACCCGAATGATCAGAAA
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>SMARCD1|6602|protein
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPRPGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAP
QQIQQVQQQAVQNRNHNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKRKLRIFISNTFNPAKSDAEDGEGTVASWELR
VEGRLLEDSALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPRLARLLGIHTQTRPVI
IQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQRLHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATL
DNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Linkage Studies Top