AutismKB 2.0

Evidence Details for BZW1


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Basic Information Top
Gene Symbol:BZW1 ( BZAP45,KIAA0005,Nbla10236 )
Gene Full Name: basic leucine zipper and W2 domains 1
Band: 2q33.1
Quick LinksEntrez ID:9689; OMIM: NA; Uniprot ID:BZW1_HUMAN; ENSEMBL ID: ENSG00000082153; HGNC ID: 18380
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BZW1|9689|nucleotide
ATGAATAATCAAAAGCAGCAAAAGCCAACGCTATCAGGCCAGCGTTTTAAAACTAGAAAAAGAGATGAAAAAGAGAGGTTTGACCCTACTCAGTTTCAAGACTGT
ATTATTCAAGGCTTAACTGAAACCGGTACTGATTTGGAAGCAGTAGCTAAGTTTCTTGATGCTTCTGGAGCAAAACTTGATTACCGTCGATATGCAGAAACACTC
TTTGACATTCTGGTGGCTGGTGGAATGCTGGCCCCAGGTGGTACACTGGCAGATGACATGATGCGTACAGATGTCTGCGTGTTTGCAGCCCAAGAAGATCTAGAG
ACCATGCAAGCATTTGCTCAGGTTTTTAACAAGTTAATCAGGCGCTACAAATACCTGGAGAAAGGTTTTGAAGATGAAGTAAAAAAGCTGCTGCTGTTCTTGAAG
GGTTTTTCAGAGTCGGAGAGGAACAAGCTAGCTATGTTGACTGGTGTTCTTCTGGCTAATGGAACACTTAATGCATCCATTCTTAATAGCCTTTATAATGAAAAT
TTGGTTAAAGAAGGAGTTTCAGCAGCTTTTGCTGTGAAGCTCTTTAAATCATGGATAAATGAAAAAGATATCAATGCAGTAGCTGCAAGTCTTCGGAAAGTCAGC
ATGGATAACAGACTGATGGAACTCTTTCCTGCCAATAAGCAAAGTGTTGAACACTTCACAAAATATTTTACTGAGGCAGGCTTGAAAGAGCTTTCAGAATATGTT
CGGAATCAGCAAACCATCGGAGCTCGTAAGGAGCTCCAGAAAGAACTTCAAGAACAGATGTCCCGTGGTGATCCATTTAAGGATATAATTTTATATGTCAAGGAG
GAGATGAAAAAAAACAACATTCATTTCATGAAAGCCTTCCAGAAAATAGTGGTGCTTTTTTATAAAGCTGAAGTCCTGAGCGAGGAGCCCATTTTGAAGTGGTAT
AAAGATGCACATGTTGCAAAGGGGAAGAGTGTTTTCCTTGAGCAAATGAAAAAGTTTGTAGAATGGCTCAAAAATGCTGAAGAAGAATCTGAATCTGAAGCTGAA
GAAGGTGACTGA
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>BZW1|9689|protein
MNNQKQQKPTLSGQRFKTRKRDEKERFDPTQFQDCIIQGLTETGTDLEAVAKFLDASGAKLDYRRYAETLFDILVAGGMLAPGGTLADDMMRTDVCVFAAQEDLE
TMQAFAQVFNKLIRRYKYLEKGFEDEVKKLLLFLKGFSESERNKLAMLTGVLLANGTLNASILNSLYNENLVKEGVSAAFAVKLFKSWINEKDINAVAASLRKVS
MDNRLMELFPANKQSVEHFTKYFTEAGLKELSEYVRNQQTIGARKELQKELQEQMSRGDPFKDIILYVKEEMKKNNIHFMKAFQKIVVLFYKAEVLSEEPILKWY
KDAHVAKGKSVFLEQMKKFVEWLKNAEEESESEAEEGD

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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (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