AutismKB 2.0

Evidence Details for CHD2


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Basic Information Top
Gene Symbol:CHD2 ( DKFZp547I1315,DKFZp686E01200,DKFZp781D1727,FLJ38614 )
Gene Full Name: chromodomain helicase DNA binding protein 2
Band: 15q26.1
Quick LinksEntrez ID:1106; OMIM: 602119; Uniprot ID:CHD2_HUMAN; ENSEMBL ID: ENSG00000173575; HGNC ID: 1917
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHD2|1106|nucleotide
ATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAGTCACTCAGCCTCTGAAGAAGCTTCGGGTTCAGACTCAGGCAGT
CAGTCGGAAAGTGAGCAGGGAAGTGATCCAGGAAGTGGACATGGCAGCGAGTCGAACAGCAGCTCTGAATCTTCTGAGAGTCAGTCGGAATCTGAGAGCGAATCA
GCAGGTTCCAAATCCCAGCCAGTCCTCCCAGAAGCCAAAGAGAAGCCAGCCTCTAAGAAGGAACGGATAGCTGATGTGAAGAAGATGTGGGAAGAATATCCTGAT
GTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGCAAGTAGCGGGTCTGAGAGTGGGAGCCCAAAAAGAAGA
GGCCAGAGGCAGCTGAAAAAACAAGAAAAATGGAAACAGGAACCCTCAGAAGATGAACAGGAACAAGGCACCAGTGCAGAGAGTGAGCCAGAACAAAAAAAAGTA
AAAGCCAGAAGACCTGTCCCCAGAAGAACAGTGCCCAAACCTCGTGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAAAGCAAGATTCTTCTGATGAG
GATGATGATGATGACGAAGCTCCCAAAAGGCAGACTCGTCGAAGAGCGGCTAAAAACGTTAGTTACAAAGAAGATGATGACTTTGAGACTGACTCAGATGATCTC
ATTGAAATGACTGGAGAAGGAGTTGATGAACAGCAAGATAATAGTGAAACTATTGAAAAGGTCTTAGATTCAAGACTGGGAAAGAAAGGAGCCACTGGAGCATCT
ACTACTGTATATGCGATTGAAGCTAATGGCGACCCTAGTGGTGACTTTGACACTGAAAAGGATGAAGGTGAAATCCAGTACCTCATCAAGTGGAAGGGTTGGTCT
TACATCCACAGCACATGGGAGAGTGAAGAATCCTTACAGCAACAGAAAGTGAAGGGCCTAAAAAAACTAGAGAACTTCAAGAAAAAAGAGGACGAAATCAAACAA
TGGTTAGGGAAAGTTTCTCCTGAAGATGTAGAATATTTCAATTGCCAACAGGAGCTGGCTTCAGAGTTGAATAAACAGTATCAGATAGTAGAAAGAGTAATAGCT
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>CHD2|1106|protein
MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPD
VYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRPVPRRTVPKPRVKKQPKTQRGKRKKQDSSDE
DDDDDEAPKRQTRRRAAKNVSYKEDDDFETDSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEKDEGEIQYLIKWKGWS
YIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQWLGKVSPEDVEYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGL
PYSECSWEDEALIGKKFQNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGENLELRDYQLEGLNWLAHSWCK
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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 (5) 1 (1) 0 (0) 0 (0) 3 (9) 0 (2) 1 (2) 1 (1) 52 (20)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top