AutismKB 2.0

Evidence Details for ACO2


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Basic Information Top
Gene Symbol:ACO2 ( ACONM,MGC20605,MGC33908 )
Gene Full Name: aconitase 2, mitochondrial
Band: 22q13.2
Quick LinksEntrez ID:50; OMIM: 100850; Uniprot ID:ACON_HUMAN; ENSEMBL ID: ENSG00000100412; HGNC ID: 118
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACO2|50|nucleotide
ATGGCGCCCTACAGCCTACTGGTGACTCGGCTGCAGAAAGCTCTGGGTGTGCGGCAGTACCATGTGGCCTCAGTCCTGTGCCAACGGGCCAAGGTGGCGATGAGC
CACTTTGAGCCCAACGAGTACATCCATTATGACCTGCTAGAGAAGAACATTAACATTGTTCGCAAACGACTGAACCGGCCGCTGACACTCTCGGAGAAGATTGTG
TATGGACACCTGGATGACCCCGCCAGCCAGGAAATTGAGCGAGGCAAGTCGTACCTGCGGCTGCGGCCGGACCGTGTGGCCATGCAGGATGCGACGGCCCAGATG
GCCATGCTCCAGTTCATCAGCAGCGGGCTGTCCAAGGTGGCTGTGCCATCCACCATCCACTGTGACCATCTGATTGAAGCCCAGGTTGGGGGCGAGAAAGACCTG
CGCCGGGCCAAGGACATCAACCAGGAAGTTTATAATTTCCTGGCAACTGCAGGTGCCAAATATGGCGTGGGCTTCTGGAAGCCTGGATCTGGAATCATTCACCAG
ATTATTCTGGAAAACTATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGCCTTGGGGGCATCTGCATTGGAGTTGGGGGT
GCCGATGCTGTGGATGTCATGGCTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGTTGGTCCTCACCCAAA
GATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCATCTCCTGCACTGGCATG
GCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAACCACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAGACATT
GCCAATCTAGCTGATGAATTCAAGGATCACTTGGTGCCTGACCCTGGCTGCCATTATGACCAACTAATTGAAATTAACCTCAGTGAGCTGAAGCCACACATCAAT
GGGCCCTTCACCCCTGACCTGGCTCACCCTGTGGCAGAAGTGGGCAAGGTGGCAGAGAAGGAAGGATGGCCTCTGGACATCCGAGTGGGTCTAATTGGTAGCTGC
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>ACO2|50|protein
MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLNRPLTLSEKIVYGHLDDPASQEIERGKSYLRLRPDRVAMQDATAQM
AMLQFISSGLSKVAVPSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAKYGVGFWKPGSGIIHQIILENYAYPGVLLIGTDSHTPNGGGLGGICIGVGG
ADAVDVMAGIPWELKCPKVIGVKLTGSLSGWSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYNHRMKKYLSKTGREDI
ANLADEFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHPVAEVGKVAEKEGWPLDIRVGLIGSCTNSSYEDMGRSAAVAKQALAHGLKCKSQFTITPGS
EQIRATIERDGYAQILRDLGGIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRNDANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLE
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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) 0 (0) 0 (0) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top