AutismKB 2.0

Evidence Details for ATAD3B


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Basic Information Top
Gene Symbol:ATAD3B ( AAA-TOB3,KIAA1273,TOB3 )
Gene Full Name: ATPase family, AAA domain containing 3B
Band: 1p36.33
Quick LinksEntrez ID:83858; OMIM: 612317; Uniprot ID:ATD3B_HUMAN; ENSEMBL ID: ENSG00000160072; HGNC ID: 24007
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATAD3B|83858|nucleotide
ATGTCGTGGCTCTTCGGCGTTAACAAGGGCCCCAAGGGTGAAGGCGCGGGGCCGCCGCCGCCTTTGCCGCCCGCGCAGCCCGGGGCCGAGGGCGGCGGGGACCGC
GGTTTGGGAGACCGGCCGGCGCCCAAGGACAAATGGAGCAACTTCGACCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCGAGCTGGAGCACTCGCGTTAC
GCCAAGGAGGCCCTGAATCTGGCGCAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAAGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGC
GAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCCAGGGCCCAGTATCAAGACAAGCTGGCCCGGCAGCGC
TACGAGGACCAACTGAAGCAGCAGCAACTTCTCAATGAGGAGAATTTACGGAAGCAGGAGGAGTCCGTGCAGAAGCAGGAAGCCATGCGGCGAGCCACCGTGGAG
CGGGAGATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGACCGAGGCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCATCCGCGAGCAG
ATCCGCCTGAAGGCGTCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGACGGCTGGCACCTTGTTTGGGGAAGGATTCCGTGCCTTTGTGACAGACCGGGAC
AAAGTGACAGCCACGGTGGCTGGGCTGACGCTGCTGGCTGTCGGGGTCTACTCAGCCAAGAATGCGACAGCCGTCACTGGCCGCTTCATCGAGGCTCGGCTGGGG
AAGCCGTCCCTAGTGAGGGAGACGTCCCGCATCACGGTGCTGGAGGCGCTGCGGCACCCCATCCAGGTCAGCCGGCGGCTCCTCAGTCGACCCCAGGACGTGCTG
GAGGGTGTTGTGCTTAGTCCCAGCCTGGAAGCACGGGTGCGCGACATCGCCATAGCAACCAGGAACACCAAGAAGAACCGGGGCCTGTACAGGCACATCCTGCTG
TATGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGG
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>ATAD3B|83858|protein
MSWLFGVNKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKEALNLAQMQEQTLQLEQQSKLKEYEAAVEQLKS
EQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVETEARARAKAERENADIIREQ
IRLKASEHRQTVLESIRTAGTLFGEGFRAFVTDRDKVTATVAGLTLLAVGVYSAKNATAVTGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDVL
EGVVLSPSLEARVRDIAIATRNTKKNRGLYRHILLYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFMDEADAFLRKR
ATEEISKDLRATLNAFLYHMGQHSNKFMLVLASNLPEQFDCAINSRIDVMVHFDLPQQEERERLVRLHFDNCVLKPATEGKRRLKLAQFDYGRKCSEVARLTEGM
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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) 0 (2) 0 (0) 0 (0) 0 (0) 2 (6)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top