AutismKB 2.0

Evidence Details for ALDH1A3


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Basic Information Top
Gene Symbol:ALDH1A3 ( ALDH1A6,ALDH6,RALDH3 )
Gene Full Name: aldehyde dehydrogenase 1 family, member A3
Band: 15q26.3
Quick LinksEntrez ID:220; OMIM: 600463; Uniprot ID:AL1A3_HUMAN; ENSEMBL ID: ENSG00000184254; HGNC ID: 409
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALDH1A3|220|nucleotide
ATGGCCACCGCTAACGGGGCCGTGGAAAACGGGCAGCCGGACAGGAAGCCGCCGGCCCTGCCGCGCCCCATCCGCAACCTGGAGGTCAAGTTCACCAAGATATTT
ATCAACAATGAATGGCACGAATCCAAGAGTGGGAAAAAGTTTGCTACATGTAACCCTTCAACTCGGGAGCAAATATGTGAAGTGGAAGAAGGAGATAAGCCCGAC
GTGGACAAGGCTGTGGAGGCTGCACAGGTTGCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTGCACCAGCTGGCTGAC
CTGGTGGAGAGGGACCGCGCCACCTTGGCCGCCCTGGAGACGATGGATACAGGGAAGCCATTTCTTCATGCTTTTTTCATCGACCTGGAGGGCTGTATTAGAACC
CTCAGATACTTTGCAGGGTGGGCAGACAAAATCCAGGGCAAGACCATCCCCACAGATGACAACGTCGTGTGCTTCACCAGGCATGAGCCCATTGGTGTCTGTGGG
GCCATCACTCCATGGAACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACCATGGTCCTGAAGCCTGCGGAGCAGACACCT
CTCACCGCCCTTTATCTCGGCTCTCTGATCAAAGAGGCCGGGTTCCCTCCAGGAGTGGTGAACATTGTGCCAGGATTCGGGCCCACAGTGGGAGCAGCAATTTCT
TCTCACCCTCAGATCAACAAGATCGCCTTCACCGGCTCCACAGAGGTTGGAAAACTGGTTAAAGAAGCTGCGTCCCGGAGCAATCTGAAGCGGGTGACGCTGGAG
CTGGGGGGGAAGAACCCCTGCATCGTGTGTGCGGACGCTGACTTGGACTTGGCAGTGGAGTGTGCCCATCAGGGAGTGTTCTTCAACCAAGGCCAGTGTTGCACG
GCAGCCTCCAGGGTGTTCGTGGAGGAGCAGGTCTACTCTGAGTTTGTCAGGCGGAGCGTGGAGTATGCCAAGAAACGGCCCGTGGGAGACCCCTTCGATGTCAAA
ACAGAACAGGGGCCTCAGATTGATCAAAAGCAGTTCGACAAAATCTTAGAGCTGATCGAGAGTGGGAAGAAGGAAGGGGCCAAGCTGGAATGCGGGGGCTCAGCC
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>ALDH1A3|220|protein
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLAD
LVERDRATLAALETMDTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTP
LTALYLGSLIKEAGFPPGVVNIVPGFGPTVGAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCT
AASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPIL
KFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGFKMSGNGRELGEYALAEYTEVKTVTIKLGDKNP
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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 (3) 0 (0) 0 (0) 2 (2) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top