AutismKB 2.0

Evidence Details for AOX1


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Basic Information Top
Gene Symbol:AOX1 ( AO,AOH1 )
Gene Full Name: aldehyde oxidase 1
Band: 2q33.1
Quick LinksEntrez ID:316; OMIM: 602841; Uniprot ID:ADO_HUMAN; ENSEMBL ID: ENSG00000138356; HGNC ID: 553
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AOX1|316|nucleotide
ATGGACCGGGCGTCCGAGCTGCTCTTCTACGTGAACGGCCGCAAGGTGATAGAAAAAAATGTCGATCCTGAAACAATGCTGTTGCCTTATTTGAGGAAGAAGCTT
CGACTCACAGGAACTAAGTATGGCTGTGGAGGAGGAGGCTGTGGTGCTTGTACAGTGATGATATCACGATACAACCCCATCACCAAGAGGATAAGGCATCACCCA
GCCAATGCCTGTCTGATTCCCATCTGTTCTCTGTATGGTGCTGCCGTCACCACAGTAGAAGGCATAGGAAGCACCCACACCAGAATTCATCCTGTTCAGGAGAGG
ATTGCCAAGTGTCATGGCACCCAGTGTGGCTTCTGCACACCTGGGATGGTGATGTCCATCTACACGCTGCTCAGGAACCACCCAGAGCCCACTCTGGATCAGTTA
ACTGATGCCCTTGGTGGTAACCTGTGCCGTTGCACTGGATACAGGCCCATAATTGATGCATGCAAGACTTTCTGTAAAACTTCGGGCTGCTGTCAAAGTAAAGAA
AATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTG
GATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGATAATGGCTGAGAAACAGTCGCAAAGGACCAGGGTGTTTGGCAGTGAGAGAATGATGTGGTTTTCC
CCCGTGACCCTGAAGGAACTGCTGGAATTTAAATTCAAGTATCCCCAGGCTCCTGTTATCATGGGAAACACCTCTGTGGGGCCTGAAGTGAAATTTAAAGGCGTC
TTTCACCCAGTTATAATTTCTCCTGATAGAATTGAAGAACTGAGTGTTGTAAACCATGCATATAATGGACTCACCCTTGGTGCTGGTCTCAGCCTAGCCCAGGTG
AAGGACATTTTGGCTGATGTAGTCCAGAAGCTTCCAGAGGAGAAGACACAGATGTACCATGCTCTCCTGAAGCATTTGGGAACTCTGGCTGGGTCCCAGATCAGG
AACATGGCTTCTTTAGGGGGACACATCATTAGCAGGCATCCAGATTCAGATCTGAATCCCATCCTGGCTGTGGGTAACTGTACCCTCAACTTGCTATCAAAAGAA
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>AOX1|316|protein
MDRASELLFYVNGRKVIEKNVDPETMLLPYLRKKLRLTGTKYGCGGGGCGACTVMISRYNPITKRIRHHPANACLIPICSLYGAAVTTVEGIGSTHTRIHPVQER
IAKCHGTQCGFCTPGMVMSIYTLLRNHPEPTLDQLTDALGGNLCRCTGYRPIIDACKTFCKTSGCCQSKENGVCCLDQGINGLPEFEEGSKTSPKLFAEEEFLPL
DPTQELIFPPELMIMAEKQSQRTRVFGSERMMWFSPVTLKELLEFKFKYPQAPVIMGNTSVGPEVKFKGVFHPVIISPDRIEELSVVNHAYNGLTLGAGLSLAQV
KDILADVVQKLPEEKTQMYHALLKHLGTLAGSQIRNMASLGGHIISRHPDSDLNPILAVGNCTLNLLSKEGKRQIPLNEQFLSKCPNADLKPQEILVSVNIPYSR
KWEFVSAFRQAQRQENALAIVNSGMRVFFGEGDGIIRELCISYGGVGPATICAKNSCQKLIGRHWNEQMLDIACRLILNEVSLLGSAPGGKVEFKRTLIISFLFK
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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) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (2)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top