AutismKB 2.0

Evidence Details for CNOT3


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Basic Information Top
Gene Symbol:CNOT3 ( KIAA0691,LENG2,NOT3,NOT3H )
Gene Full Name: CCR4-NOT transcription complex, subunit 3
Band: 19q13.42
Quick LinksEntrez ID:4849; OMIM: 604910; Uniprot ID:CNOT3_HUMAN; ENSEMBL ID: ENSG00000088038; HGNC ID: 7879
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNOT3|4849|nucleotide
ATGGCGGACAAGCGCAAACTCCAAGGTGAGATTGATCGCTGCCTCAAGAAGGTGTCCGAGGGCGTGGAGCAGTTTGAAGATATTTGGCAGAAGCTCCACAATGCA
GCCAACGCGAACCAGAAAGAAAAGTATGAGGCTGACCTAAAGAAGGAGATTAAGAAGCTACAACGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAG
ATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAA
GAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGAATACCATCGACACGCTCAACATGCAGGTGGAC
CAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAG
CACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTAT
GTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCCACAGGCGCTGGTCGCCACCTCCCCCCCCAGC
CACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCAACTGTACCACGGAA
AACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGTCTCCAGCCAAAAACGGCTCCAAGCCTGTCCACAGCAACCAGCACCCTCAG
TCCCCAGCTGTGCCGCCCACCTACCCCTCCGGCCCCCCGCCTGCTGCCTCTGCCTTGAGCACCACTCCTGGCAACAATGGGGTCCCCGCCCCCGCAGCACCCCCA
AGTGCCCTGGGCCCCAAGGCCAGTCCAGCTCCCAGCCACAACTCGGGCACCCCTGCTCCCTATGCCCAGGCTGTGGCCCCACCAGCTCCCAGTGGGCCCAGCACG
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>CNOT3|4849|protein
MADKRKLQGEIDRCLKKVSEGVEQFEDIWQKLHNAANANQKEKYEADLKKEIKKLQRLRDQIKTWVASNEIKDKRQLIDNRKLIETQMERFKVVERETKTKAYSK
EGLGLAQKVDPAQKEKEEVGQWLTNTIDTLNMQVDQFESEVESLSVQTRKKKGDKDKQDRIEGLKRHIEKHRYHVRMLETILRMLDNDSILVDAIRKIKDDVEYY
VDSSQDPDFEENEFLYDDLDLEDIPQALVATSPPSHSHMEDEIFNQSSSTPTSTTSSSPIPPSPANCTTENSEDDKKRGRSTDSEVSQSPAKNGSKPVHSNQHPQ
SPAVPPTYPSGPPPAASALSTTPGNNGVPAPAAPPSALGPKASPAPSHNSGTPAPYAQAVAPPAPSGPSTTQPRPPSVQPSGGGGGGSGGGGSSSSSNSSAGGGA
GKQNGATSYSSVVADSPAEVALSSSGGNNASSQALGPPSGPHNPPPSTSKEPSAAAPTGAGGVAPGSGNNSGGPSLLVPLPVNPPSSPTPSFSDAKAAGALLNGP
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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 (2) 1 (1) 0 (0) 0 (0) 0 (4) 0 (0) 0 (0) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top