AutismKB 2.0

Evidence Details for S100A1


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Basic Information Top
Gene Symbol:S100A1 ( S100,S100-alpha,S100A )
Gene Full Name: S100 calcium binding protein A1
Band: 1q21.3
Quick LinksEntrez ID:6271; OMIM: 176940; Uniprot ID:S10A1_HUMAN; ENSEMBL ID: ENSG00000160678; HGNC ID: 10486
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>S100A1|6271|nucleotide
ATGGGCTCTGAGCTGGAGACGGCGATGGAGACCCTCATCAACGTGTTCCACGCCCACTCGGGCAAAGAGGGGGACAAGTACAAGCTGAGCAAGAAGGAGCTGAAA
GAGCTGCTGCAGACGGAGCTCTCTGGCTTCCTGGATGCCCAGAAGGATGTGGATGCTGTGGACAAGGTGATGAAGGAGCTAGACGAGAATGGAGACGGGGAGGTG
GACTTCCAGGAGTATGTGGTGCTTGTGGCTGCTCTCACAGTGGCCTGTAACAATTTCTTCTGGGAGAACAGTTGA








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>S100A1|6271|protein
MGSELETAMETLINVFHAHSGKEGDKYKLSKKELKELLQTELSGFLDAQKDVDAVDKVMKELDENGDGEVDFQEYVVLVAALTVACNNFFWENS




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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top