AutismKB 2.0

Evidence Details for CHD8


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Basic Information Top
Gene Symbol:CHD8 ( DKFZp686N17164,HELSNF1,KIAA1564 )
Gene Full Name: chromodomain helicase DNA binding protein 8
Band: 14q11.2
Quick LinksEntrez ID:57680; OMIM: 610528; Uniprot ID:CHD8_HUMAN; ENSEMBL ID: ENSG00000100888; HGNC ID: 20153
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHD8|57680|nucleotide
ATGGCAGACCCCATCATGGATCTGTTCGATGACCCAAATTTATTTGGCCTGGACTCTCTGACTGATGACAGCTTTAACCAGGTCACACAAGACCCCATTGAGGAA
GCCCTTGGACTGCCAAGCTCTCTGGACTCCTTGGATCAGATGAACCAGGATGGTGGAGGTGGTGATGTGGGGAATTCATCAGCAAGTGAACTGGTCCCTCCACCA
GAGGAAACAGCTCCCACAGAACTTTCCAAAGAATCCACAGCTCCAGCTCCAGAATCCATAACCTTGCATGATTATACCACTCAGCCTGCCAGCCAGGAGCAGCCA
GCCCAACCTGTCTTACAGACATCGACGCCAACATCAGGACTTTTGCAAGTCTCCAAGAGCCAGGAGATCCTGAGCCAAGGGAATCCTTTCATGGGTGTCTCTGCC
ACAGCTGTCTCCTCCAGTAGTGCTGGAGGGCAGCCACCTCAGTCAGCCCCTAAGATTGTTATCCTTAAGGCCCCACCAAGCTCCTCAGTCACTGGTGCCCATGTG
GCACAAATTCAGGCCCAAGGTATCACCAGCACAGCTCAGCCCCTGGTGGCAGGCACAGCCAATGGTGGAAAAGTCACTTTTACCAAAGTGCTAACCGGCACACCC
CTTCGACCAGGTGTTTCCATTGTCTCTGGTAATACAGTGTTGGCCGCCAAGGTCCCTGGGAACCAGGCTGCTGTTCAGCGCATTGTCCAGCCCAGCCGACCAGTA
AAGCAGCTGGTCCTCCAGCCAGTTAAGGGTTCAGCTCCTGCTGGAAACCCTGGGGCCACAGGGCCCCCACTGAAGCCTGCAGTTACACTGACCTCTACACCTACC
CAGGGTGAATCGAAACGCATCACCCTGGTCCTCCAGCAGCCACAGTCTGGAGGTCCCCAAGGACATCGGCATGTTGTGCTAGGGAGTCTACCAGGCAAGATAGTG
TTACAGGGCAACCAGCTGGCAGCCCTGACTCAAGCCAAGAATGCCCAAGGGCAGCCTGCCAAGGTAGTAACTATCCAGCTGCAGGTGCAGCAGCCACAGCAAAAA
ATCCAGATTGTACCACAACCACCATCATCGCAGCCACAGCCCCAGCAGCCACCCTCCACCCAGCCAGTGACTCTGTCCTCTGTACAGCAGGCTCAGATAATGGGA
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>CHD8|57680|protein
MADPIMDLFDDPNLFGLDSLTDDSFNQVTQDPIEEALGLPSSLDSLDQMNQDGGGGDVGNSSASELVPPPEETAPTELSKESTAPAPESITLHDYTTQPASQEQP
AQPVLQTSTPTSGLLQVSKSQEILSQGNPFMGVSATAVSSSSAGGQPPQSAPKIVILKAPPSSSVTGAHVAQIQAQGITSTAQPLVAGTANGGKVTFTKVLTGTP
LRPGVSIVSGNTVLAAKVPGNQAAVQRIVQPSRPVKQLVLQPVKGSAPAGNPGATGPPLKPAVTLTSTPTQGESKRITLVLQQPQSGGPQGHRHVVLGSLPGKIV
LQGNQLAALTQAKNAQGQPAKVVTIQLQVQQPQQKIQIVPQPPSSQPQPQQPPSTQPVTLSSVQQAQIMGPGQSPGQRLSVPVKVVLQPQAGSSQGASSGLSVVK
VLSASEVAALSSPASSAPHSGGKTGMEENRRLEHQKKQEKANRIVAEAIARARARGEQNIPRVLNEDELPSVRPEEEGEKKRRKKSAGERLKEEKPKKSKTSGAS
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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) 2 (5) 0 (0) 0 (0) 0 (0) 3 (12) 0 (0) 2 (3) 1 (1) 60 (21)
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
Prontera P, 2014 - aCGHASD - - - - 1 - 1
Pinto AM, 2015 - aCGH--autism - - - - 2 - 2
Drabova J, 2015 Czech aCGH--autistic - - - - 1 - 1
Biamino E, 2016 - aCGHASD 1 - 1 - 1 - 1
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top