AutismKB 2.0

Evidence Details for ACACA


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Basic Information Top
Gene Symbol:ACACA ( ACAC,ACC,ACC1,ACCA )
Gene Full Name: acetyl-CoA carboxylase alpha
Band: 17q12
Quick LinksEntrez ID:31; OMIM: 200350; Uniprot ID:ACACA_HUMAN; ENSEMBL ID: ENSG00000132142; HGNC ID: 84
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACACA|31|nucleotide
ATGTGGTGGTCTACTCTGATGTCAATCTTGAGGGCTAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATTTTGGA
GGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATC
AGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCTGATTTGGGGATCTCTAGCCTACAG
GATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCT
TCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGT
AGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGAT
CACTATGTGCCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGGCTGGC
TGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAG
ATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATC
TTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCA
GAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAGGTTCAAGCTGAAGTTCCTGGATCTCCCATATTTGTG
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>ACACA|31|protein
MWWSTLMSILRARSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQ
DGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMAD
HYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRI
LNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRR
HQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDS
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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 (4) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 1 (1) 22 (7)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Roberts JL, 2014 - aCGH;FISH--autism - - - - 1 - 1
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top