AutismKB 2.0

Evidence Details for BAZ1A


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Basic Information Top
Gene Symbol:BAZ1A ( ACF1,DKFZp586E0518,FLJ14383,WALp1,WCRF180,hACF1 )
Gene Full Name: bromodomain adjacent to zinc finger domain, 1A
Band: 14q13.1-q13.2
Quick LinksEntrez ID:11177; OMIM: 605680; Uniprot ID:BAZ1A_HUMAN; ENSEMBL ID: ENSG00000198604; HGNC ID: 960
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BAZ1A|11177|nucleotide
ATGCCGCTGCTACACCGAAAGCCGTTTGTGAGACAGAAGCCGCCCGCGGACCTGCGGCCCGACGAGGAAGTTTTCTACTGTAAAGTCACCAACGAGATCTTCCGC
CACTACGATGACTTTTTTGAACGAACCATTCTGTGCAACAGCCTTGTGTGGAGTTGTGCTGTGACGGGTAGACCTGGACTGACGTATCAGGAAGCACTTGAGTCA
GAAAAAAAAGCAAGACAGAATCTTCAGAGTTTTCCAGAACCACTAATTATTCCAGTTTTATACTTGACCAGCCTTACCCATCGTTCGCGCTTACATGAAATTTGT
GATGATATCTTTGCATATGTCAAGGATCGATATTTTGTCGAAGAAACTGTGGAAGTCATTAGGAACAATGGTGCAAGGTTGCAGTGTAGGATTTTGGAAGTCCTC
CCTCCATCACATCAAAATGGTTTTGCTAATGGACATGTTAACAGTGTGGATGGAGAAACTATTATCATCAGTGATAGTGATGATTCAGAAACACAAAGCTGTTCT
TTTCAAAATGGGAAGAAAAAAGATGCAATTGATCCCTTACTATTCAAGTATAAAGTGCAACCCACTAAAAAAGAATTACATGAGTCTGCTATTGTTAAAGCAACA
CAAATCAGCCGGAGAAAACACCTATTTTCTCGTGATAAACTAAAGCTTTTTCTGAAGCAACACTGTGAACCACAAGATGGAGTCATTAAAATAAAGGCATCATCT
CTTTCAACGTATAAAATAGCAGAACAAGATTTTTCTTATTTCTTCCCTGATGATCCACCCACATTTATCTTCAGTCCTGCTAACAGACGAAGAGGGAGACCTCCC
AAACGAATACATATTAGTCAAGAGGACAATGTTGCTAATAAACAGACTCTTGCAAGTTATAGGAGCAAAGCTACTAAAGAAAGAGATAAACTTTTGAAACAAGAA
GAAATGAAGTCACTGGCTTTTGAAAAGGCTAAATTAAAAAGAGAAAAAGCAGATGCCCTAGAAGCGAAGAAAAAAGAAAAAGAAGATAAAGAGAAAAAGAGGGAA
GAATTGAAAAAAATTGTTGAAGAAGAGAGACTAAAGAAAAAAGAAGAAAAAGAGAGGCTTAAAGTAGAAAGAGAAAAGGAAAGAGAGAAGTTACGTGAAGAAAAG
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>BAZ1A|11177|protein
MPLLHRKPFVRQKPPADLRPDEEVFYCKVTNEIFRHYDDFFERTILCNSLVWSCAVTGRPGLTYQEALESEKKARQNLQSFPEPLIIPVLYLTSLTHRSRLHEIC
DDIFAYVKDRYFVEETVEVIRNNGARLQCRILEVLPPSHQNGFANGHVNSVDGETIIISDSDDSETQSCSFQNGKKKDAIDPLLFKYKVQPTKKELHESAIVKAT
QISRRKHLFSRDKLKLFLKQHCEPQDGVIKIKASSLSTYKIAEQDFSYFFPDDPPTFIFSPANRRRGRPPKRIHISQEDNVANKQTLASYRSKATKERDKLLKQE
EMKSLAFEKAKLKREKADALEAKKKEKEDKEKKREELKKIVEEERLKKKEEKERLKVEREKEREKLREEKRKYVEYLKQWSKPREDMECDDLKELPEPTPVKTRL
PPEIFGDALMVLEFLNAFGELFDLQDEFPDGVTLEVLEEALVGNDSEGPLCELLFFFLTAIFQAIAEEEEEVAKEQLTDADTKDLTEALDEDADPTKSALSAVAS
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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) 0 (3) 0 (0) 0 (0) 0 (0) 0 (4)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top