AutismKB 2.0

Evidence Details for ALDH1A2


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Basic Information Top
Gene Symbol:ALDH1A2 ( MGC26444,RALDH(II),RALDH2,RALDH2-T )
Gene Full Name: aldehyde dehydrogenase 1 family, member A2
Band: 15q21.3
Quick LinksEntrez ID:8854; OMIM: 603687; Uniprot ID:AL1A2_HUMAN; ENSEMBL ID: ENSG00000128918; HGNC ID: 15472
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ALDH1A2|8854|nucleotide
ATGACTTCCAGCAAGATAGAGATGCCCGGCGAGGTGAAGGCCGACCCCGCCGCCCTCATGGCGTCGCTGCACCTCCTGCCGTCGCCCACGCCCAATCTCGAAATT
AAGTACACCAAGATCTTTATAAACAACGAGTGGCAGAACTCAGAGAGTGGGAGAGTGTTCCCTGTCTATAATCCAGCCACAGGAGAACAGGTGTGTGAAGTTCAA
GAAGCAGACAAGGCAGATATAGACAAAGCAGTGCAGGCAGCCCGCCTGGCTTTCTCTCTTGGTTCAGTGTGGAGAAGGATGGATGCTTCAGAAAGGGGACGTCTG
TTGGATAAGCTTGCAGACTTGGTGGAACGGGACAGGGCAGTTCTTGCAACCATGGAATCCCTAAATGGTGGCAAACCATTCCTGCAAGCTTTTTATGTGGATTTG
CAGGGCGTCATCAAAACCTTTCGATATTACGCAGGCTGGGCTGATAAAATTCATGGGATGACCATTCCTGTAGATGGAGACTATTTTACCTTTACAAGACATGAA
CCCATTGGAGTGTGTGGACAGATCATCCCATGGAACTTCCCCCTGCTGATGTTTGCCTGGAAAATAGCTCCAGCTTTGTGCTGTGGCAATACAGTAGTTATTAAG
CCAGCAGAGCAAACACCACTCAGTGCACTCTACATGGGAGCCCTCATCAAGGAGGCTGGCTTTCCTCCCGGGGTCATCAATATTTTGCCAGGATATGGGCCAACG
GCTGGGGCAGCAATAGCTTCTCACATTGGCATAGACAAGATTGCATTCACAGGGTCTACTGAGGTTGGAAAGCTTATCCAAGAAGCAGCTGGAAGAAGTAATTTG
AAGAGAGTAACTCTGGAACTTGGAGGCAAAAGTCCTAATATTATTTTTGCTGATGCTGACTTGGACTATGCTGTGGAGCAGGCCCACCAGGGTGTGTTCTTCAAT
CAAGGTCAGTGCTGCACTGCAGGCTCTCGCATCTTCGTGGAGGAGTCCATCTATGAGGAGTTTGTGAGAAGAAGCGTGGAGCGGGCCAAGAGGCGCGTAGTGGGG
AGTCCCTTTGACCCCACCACTGAGCAGGGTCCCCAGATTGATAAGAAACAGTACAACAAGATCTTGGAACTCATCCAGAGTGGTGTGGCTGAGGGCGCCAAGCTG
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>ALDH1A2|8854|protein
MTSSKIEMPGEVKADPAALMASLHLLPSPTPNLEIKYTKIFINNEWQNSESGRVFPVYNPATGEQVCEVQEADKADIDKAVQAARLAFSLGSVWRRMDASERGRL
LDKLADLVERDRAVLATMESLNGGKPFLQAFYVDLQGVIKTFRYYAGWADKIHGMTIPVDGDYFTFTRHEPIGVCGQIIPWNFPLLMFAWKIAPALCCGNTVVIK
PAEQTPLSALYMGALIKEAGFPPGVINILPGYGPTAGAAIASHIGIDKIAFTGSTEVGKLIQEAAGRSNLKRVTLELGGKSPNIIFADADLDYAVEQAHQGVFFN
QGQCCTAGSRIFVEESIYEEFVRRSVERAKRRVVGSPFDPTTEQGPQIDKKQYNKILELIQSGVAEGAKLECGGKGLGRKGFFIEPTVFSNVTDDMRIAKEEIFG
PVQEILRFKTMDEVIERANNSDFGLVAAVFTNDINKALTVSSAMQAGTVWINCYNALNAQSPFGGFKMSGNGREMGEFGLREYSEVKTVTVKIPQKNS
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top