AutismKB 2.0

Evidence Details for HAO2


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Basic Information Top
Gene Symbol:HAO2 ( GIG16,HAOX2 )
Gene Full Name: hydroxyacid oxidase 2 (long chain)
Band: 1p12
Quick LinksEntrez ID:51179; OMIM: 605176; Uniprot ID:HAOX2_HUMAN; ENSEMBL ID: ENSG00000116882; HGNC ID: 4810
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HAO2|51179|nucleotide
ATGTCCTTGGTGTGTTTGACAGACTTTCAGGCCCATGCGCGAGAGCAGCTGTCTAAGTCAACTCGGGATTTTATTGAAGGTGGAGCAGATGACAGCATCACGCGG
GATGACAACATTGCAGCATTTAAAAGAATTCGCCTCCGTCCGCGGTACCTGAGAGATGTGTCTGAGGTGGACACCAGAACCACAATCCAAGGGGAGGAGATCAGT
GCCCCTATTTGTATCGCACCCACAGGGTTCCACTGCCTTGTCTGGCCTGATGGGGAAATGAGCACAGCAAGAGCTGCCCAAGCGGCTGGTATCTGCTACATCACC
AGCACATTTGCCAGCTGTAGCCTTGAAGACATTGTCATTGCAGCTCCCGAAGGCCTCCGATGGTTCCAACTCTATGTGCATCCAGACCTGCAGCTGAACAAACAG
TTGATCCAGAGGGTAGAATCCCTAGGTTTCAAAGCTTTGGTAATAACTTTGGATACACCTGTATGTGGCAACAGGCGACATGACATTCGAAACCAGTTGAGGAGG
AACTTAACACTAACAGATCTTCAATCACCTAAAAAGGGAAATGCAATACCTTATTTCCAGATGACTCCTATCAGCACTTCTCTCTGCTGGAATGATCTCTCCTGG
TTTCAGAGCATAACTCGATTGCCCATCATCCTGAAAGGGATTTTGACAAAAGAGGATGCAGAGTTAGCTGTGAAGCACAATGTCCAGGGTATCATTGTTTCCAAC
CATGGTGGGAGGCAGCTTGATGAGGTTCTTGCTTCAATTGATGCTTTGACAGAAGTGGTGGCTGCTGTAAAGGGGAAAATTGAAGTCTACCTGGATGGCGGGGTC
CGAACTGGCAATGATGTGCTGAAGGCTCTGGCCCTTGGAGCTAAGTGCATTTTTCTTGGGAGACCAATCCTATGGGGCCTTGCCTGCAAGGGTGAACATGGTGTT
AAGGAAGTTTTGAACATTTTAACAAATGAGTTCCACACTTCCATGGCCCTTACAGGCTGCCGGTCGGTCGCTGAGATCAATCGAAACTTGGTCCAGTTTTCCAGG
CTGTAA
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>HAO2|51179|protein
MSLVCLTDFQAHAREQLSKSTRDFIEGGADDSITRDDNIAAFKRIRLRPRYLRDVSEVDTRTTIQGEEISAPICIAPTGFHCLVWPDGEMSTARAAQAAGICYIT
STFASCSLEDIVIAAPEGLRWFQLYVHPDLQLNKQLIQRVESLGFKALVITLDTPVCGNRRHDIRNQLRRNLTLTDLQSPKKGNAIPYFQMTPISTSLCWNDLSW
FQSITRLPIILKGILTKEDAELAVKHNVQGIIVSNHGGRQLDEVLASIDALTEVVAAVKGKIEVYLDGGVRTGNDVLKALALGAKCIFLGRPILWGLACKGEHGV
KEVLNILTNEFHTSMALTGCRSVAEINRNLVQFSRL

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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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top