AutismKB 2.0

Evidence Details for ACACB


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Basic Information Top
Gene Symbol:ACACB ( ACC2,ACCB,HACC275 )
Gene Full Name: acetyl-CoA carboxylase beta
Band: 12q24.11
Quick LinksEntrez ID:32; OMIM: 601557; Uniprot ID:ACACB_HUMAN; ENSEMBL ID: ENSG00000076555; HGNC ID: 85
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACACB|32|nucleotide
ATGGTCTTGCTTCTTTGTCTATCTTGTCTGATTTTCTCCTGTCTGACCTTTTCCTGGTTAAAAATCTGGGGGAAAATGACGGACTCCAAGCCGATCACCAAGAGT
AAATCAGAAGCAAACCTCATCCCGAGCCAGGAGCCCTTTCCAGCCTCTGATAACTCAGGGGAGACACCGCAGAGAAATGGGGAGGGCCACACTCTGCCCAAGACA
CCCAGCCAGGCCGAGCCAGCCTCCCACAAAGGCCCCAAAGATGCCGGTCGGCGGAGAAACTCCCTACCACCCTCCCACCAGAAGCCCCCAAGAAACCCCCTTTCT
TCCAGTGACGCAGCACCCTCCCCAGAGCTTCAAGCCAACGGGACTGGGACACAAGGTCTGGAGGCCACAGATACCAATGGCCTGTCCTCCTCAGCCAGGCCCCAG
GGCCAGCAAGCTGGCTCCCCCTCCAAAGAAGACAAGAAGCAGGCAAACATCAAGAGGCAGCTGATGACCAACTTCATCCTGGGCTCTTTTGATGACTACTCCTCC
GACGAGGACTCTGTTGCTGGCTCATCTCGTGAGTCTACCCGGAAGGGCAGCCGGGCCAGCTTGGGGGCCCTGTCCCTGGAGGCTTATCTGACCACAGGTGAAGCT
GAGACCCGCGTCCCCACTATGAGGCCGAGCATGTCGGGACTCCACCTGGTGAAGAGGGGACGGGAACACAAGAAGCTGGACCTGCACAGAGACTTTACCGTGGCT
TCTCCCGCTGAGTTTGTCACACGCTTTGGGGGGGATCGGGTCATCGAGAAGGTGCTTATTGCCAACAACGGGATTGCCGCCGTGAAGTGCATGCGCTCCATCCGC
AGGTGGGCCTATGAGATGTTCCGCAACGAGCGGGCCATCCGGTTTGTTGTGATGGTGACCCCCGAGGACCTTAAGGCCAACGCAGAGTACATCAAGATGGCGGAT
CATTACGTCCCCGTCCCAGGAGGGCCCAATAACAACAACTATGCCAACGTGGAGCTGATTGTGGACATTGCCAAGAGAATCCCCGTGCAGGCGGTGTGGGCTGGC
TGGGGCCATGCTTCAGAAAACCCTAAACTTCCGGAGCTGCTGTGCAAGAATGGAGTTGCTTTCTTAGGCCCTCCCAGTGAGGCCATGTGGGCCTTAGGAGATAAG
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>ACACB|32|protein
MVLLLCLSCLIFSCLTFSWLKIWGKMTDSKPITKSKSEANLIPSQEPFPASDNSGETPQRNGEGHTLPKTPSQAEPASHKGPKDAGRRRNSLPPSHQKPPRNPLS
SSDAAPSPELQANGTGTQGLEATDTNGLSSSARPQGQQAGSPSKEDKKQANIKRQLMTNFILGSFDDYSSDEDSVAGSSRESTRKGSRASLGALSLEAYLTTGEA
ETRVPTMRPSMSGLHLVKRGREHKKLDLHRDFTVASPAEFVTRFGGDRVIEKVLIANNGIAAVKCMRSIRRWAYEMFRNERAIRFVVMVTPEDLKANAEYIKMAD
HYVPVPGGPNNNNYANVELIVDIAKRIPVQAVWAGWGHASENPKLPELLCKNGVAFLGPPSEAMWALGDKIASTVVAQTLQVPTLPWSGSGLTVEWTEDDLQQGK
RISVPEDVYDKGCVKDVDEGLEAAERIGFPLMIKASEGGGGKGIRKAESAEDFPILFRQVQSEIPGSPIFLMKLAQHARHLEVQILADQYGNAVSLFGRDCSIQR
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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 (2) 0 (0) 0 (0) 0 (0) 2 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top