AutismKB 2.0

Evidence Details for BSN


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Basic Information Top
Gene Symbol:BSN ( ZNF231 )
Gene Full Name: bassoon (presynaptic cytomatrix protein)
Band: 3p21.31
Quick LinksEntrez ID:8927; OMIM: 604020; Uniprot ID:BSN_HUMAN; ENSEMBL ID: ENSG00000164061; HGNC ID: 1117
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BSN|8927|nucleotide
ATGGGCAACGAGGTCAGCCTGGAGGGCGGCGCTGGCGACGGGCCGCTGCCGCCCGGCGGCGCCGGCCCCGGCCCGGGCCCCGGCCCCGGCCCCGGCGCAGGAAAG
CCGCCTTCAGCACCGGCCGGTGGCGGACAGCTCCCCGCGGCGGGAGCAGCGCGGTCGACCGCGGTACCACCGGTCCCTGGCCCCGGCCCCGGCCCCGGTCCCGGC
CCTGGCCCGGGCAGCACTTCCCGGAGACTGGACCCCAAGGAACCCCTGGGTAACCAGAGAGCAGCTTCCCCAACTCCGAAGCAGGCTTCTGCTACCACTCCTGGC
CATGAGAGCCCCCGAGAGACAAGGGCACAGGGACCAGCAGGCCAGGAGGCTGATGGTCCCCGCAGGACGCTGCAGGTAGACAGCAGGACACAGAGATCAGGGCGG
TCCCCCTCAGTGTCACCGGACAGAGGCAGCACCCCCACATCACCCTACTCCGTCCCTCAGATCGCCCCCCTTCCCAGCAGCACGCTGTGTCCCATATGCAAGACT
TCGGACCTCACGTCGACCCCCAGCCAGCCAAACTTCAACACCTGCACCCAGTGTCACAACAAGGTCTGCAACCAGTGTGGGTTCAACCCCAACCCTCATCTCACC
CAGGTGAAGGAGTGGCTCTGTCTGAACTGTCAGATGCAGAGGGCTCTGGGAATGGACATGACCACTGCACCTCGCTCCAAGAGCCAGCAGCAGCTGCACTCCCCA
GCCCTGTCTCCTGCCCACTCCCCGGCCAAACAGCCCCTGGGGAAGCCAGACCAAGAGAGATCTCGGGGCCCAGGAGGACCACAGCCTGGGTCCCGCCAGGCTGAG
ACAGCCAGGGCCACCTCAGTGCCGGGGCCTGCCCAAGCAGCTGCCCCTCCAGAGGTGGGGAGGGTGTCTCCTCAGCCCCCTCAACCCACCAAGCCTTCCACAGCT
GAGCCCAGGCCACCTGCAGGAGAGGCCCCGGCCAAAAGTGCCACCGCAGTGCCCGCTGGGCTTGGTGCCACTGAGCAGACCCAGGAGGGCCTCACTGGTAAGCTC
TTCGGCCTTGGCGCGTCACTGCTAACCCAGGCGAGCACCCTCATGTCTGTGCAGCCCGAGGCTGACACCCAGGGCCAGCCTGCCCCCAGCAAGGGGACACCTAAG
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>BSN|8927|protein
MGNEVSLEGGAGDGPLPPGGAGPGPGPGPGPGAGKPPSAPAGGGQLPAAGAARSTAVPPVPGPGPGPGPGPGPGSTSRRLDPKEPLGNQRAASPTPKQASATTPG
HESPRETRAQGPAGQEADGPRRTLQVDSRTQRSGRSPSVSPDRGSTPTSPYSVPQIAPLPSSTLCPICKTSDLTSTPSQPNFNTCTQCHNKVCNQCGFNPNPHLT
QVKEWLCLNCQMQRALGMDMTTAPRSKSQQQLHSPALSPAHSPAKQPLGKPDQERSRGPGGPQPGSRQAETARATSVPGPAQAAAPPEVGRVSPQPPQPTKPSTA
EPRPPAGEAPAKSATAVPAGLGATEQTQEGLTGKLFGLGASLLTQASTLMSVQPEADTQGQPAPSKGTPKIVFNDASKEAGPKPLGSGPGPGPAPGAKTEPGARM
GPGSGPGALPKTGGTTSPKHGRAEHQAASKAAAKPKTMPKERAICPLCQAELNVGSKSPANYNTCTTCRLQVCNLCGFNPTPHLVEKTEWLCLNCQTKRLLEGSL
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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) 0 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top