AutismKB 2.0

Evidence Details for CNOT1


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Basic Information Top
Gene Symbol:CNOT1 ( CDC39,DKFZp686E0722,DKFZp686O168,FLJ36492,FLJ90644,KIAA1007,NOT1,NOT1H )
Gene Full Name: CCR4-NOT transcription complex, subunit 1
Band: 16q21
Quick LinksEntrez ID:23019; OMIM: 604917; Uniprot ID:CNOT1_HUMAN; ENSEMBL ID: ENSG00000125107; HGNC ID: 7877
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNOT1|23019|nucleotide
ATGAATCTTGACTCGCTCTCGCTGGCCTTGTCTCAAATCAGCTACCTGGTGGACAATTTAACCAAGAAAAATTACCGAGCCAGCCAGCAGGAAATACAGCATATT
GTGAATCGGCACGGTCCTGAGGCAGACAGGCATTTATTACGCTGCCTATTTTCGCATGTGGATTTCAGTGGCGATGGTAAAAGCAGTGGCAAAGATTTCCATCAG
ACTCAGTTTCTGATTCAGGAGTGTGCGTTGCTGATTACAAAGCCAAATTTTATCTCGACGCTGTCCTATGCCATTGATAATCCATTGCACTATCAGAAGAGTTTA
AAGCCTGCACCCCACTTATTTGCCCAGCTGAGTAAAGTGCTCAAATTAAGCAAAGTACAAGAGGTAATTTTTGGCCTTGCCCTGTTGAATTCTTCCAGCTCAGAT
CTTAGAGGTTTCGCTGCCCAGTTTATCAAACAGAAGCTTCCAGATCTTCTGCGTTCTTACATTGACGCAGACGTCAGTGGAAATCAAGAAGGTGGCTTCCAAGAT
ATAGCAATAGAGGTCCTACACCTCCTCCTCTCCCATCTCCTCTTTGGGCAGAAGGGAGCCTTTGGAGTTGGACAAGAACAGATAGACGCTTTTCTTAAGACGCTG
CGCAGAGATTTTCCCCAAGAACGCTGTCCCGTGGTGCTCGCACCACTTTTATACCCTGAAAAACGGGACATTCTAATGGACAGGATCCTGCCTGATTCCGGAGGG
GTAGCTAAAACCATGATGGAGAGCTCTTTGGCTGATTTCATGCAAGAAGTAGGCTATGGCTTTTGTGCAAGTATTGAAGAATGTCGCAATATAATCGTGCAGTTT
GGTGTTCGGGAGGTCACAGCTGCCCAGGTTGCAAGGGTTTTGGGAATGATGGCTCGAACTCATTCAGGATTAACAGATGGCATTCCATTACAGAGTATTTCTGCT
CCGGGCAGTGGGATCTGGAGTGATGGGAAAGATAAAAGTGATGGAGCACAGGCACACACATGGAATGTAGAAGTCTTGATTGACGTTCTTAAAGAACTGAATCCA
AGTTTGAATTTCAAGGAAGTAACTTATGAACTGGACCATCCTGGATTTCAAATTCGTGACAGTAAAGGACTTCATAATGTGGTTTATGGCATTCAGAGGGGTTTG
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>CNOT1|23019|protein
MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSL
KPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTL
RRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISA
PGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFC
FADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAW
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top