AutismKB 2.0

Evidence Details for BAZ2B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BAZ2B ( DKFZp434H071,DKFZp762I0516,FLJ45644,WALp4 )
Gene Full Name: bromodomain adjacent to zinc finger domain, 2B
Band: 2q24.2
Quick LinksEntrez ID:29994; OMIM: 605683; Uniprot ID:BAZ2B_HUMAN; ENSEMBL ID: ENSG00000123636; HGNC ID: 963
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BAZ2B|29994|nucleotide
ATGGAGTCTGGAGAACGGTTACCATCCTCAGCAGCCTCCTCTACTACACCAACTTCATCTTCGACACCTTCTGTGGCTTCAGTAGTTTCAAAAGGTGGCCTTTCC
ACTGGAGTTGCTTCACTTAGCTCTACAATCAACCCATGTGGACATTTATTCAGAACAGCTGGGGATCAACCGTTTAACCTGTCCACAGTGTCGAGTGCCTTCCCA
ATGGTCAGCCACCCAGTCTTTGGTCTACATTCAGCCAGCTCAGGGCATTCAGAATTTGGTGGTTTGGGGACACTTGGTACACCCACAGCCTTAGCCGCACATCCC
CAACTAGCATCTTTTCCAGGTGCAGAATGGTGGCGAACAACTGATGCTCATACTCGTACAGGAGCAACCTTCTTTCCACCATTACTGGGAATTCCACCACTATTT
GCTCCCCCAGCCCAGAATCATGATTCTTCTTCATTCCATTCAAGGACTTCGGGAAAAAGTAATCGAAATGGTCCCGAAAAAGGTGTAAATGGGTCAATAAATGGA
AGTAATACATCATCTGTAATTGGTATCAACACATCTGTACTATCCACTACTGCTTCAAGTTCCATGGGACAAACTAAAAGTACAAGCTCAGGTGGAGGAAATCGA
AAATGTAATCAGGAACAAAGCAAAAACCAGCCTTTGGATGCTAGAGTTGACAAAATCAAAGATAAGAAACCAAGGAAGAAAGCAATGGAAAGTTCTAGCAACAGT
GATAGTGATTCAGGCACATCATCAGACACCTCAAGTGAAGGCATTAGTAGCAGTGATTCAGATGATCTAGAAGAAGATGAAGAAGAAGAAGATCAAAGTATTGAA
GAAAGTGAAGATGATGATTCTGATTCAGAGAGTGAAGCACAACATAAAAGTAACAACCAGGTGCTATTACATGGTATTTCAGACCCAAAAGCAGATGGACAGAAA
GCAACTGAAAAAGCCCAGGAAAAAAGAATACACCAGCCATTACCTCTTGCGTCTGAATCCCAGACTCACTCATTCCAATCCCAGCAGAAGCAGCCTCAGGTTTTG
TCACAGCAGCTTCCATTTATTTTCCAAAGCTCTCAGGCAAAGGAGGAATCTGTGAACAAACACACCAGTGTAATACAGTCTACGGGATTGGTGTCCAATGTGAAA
Show »

>BAZ2B|29994|protein
MESGERLPSSAASSTTPTSSSTPSVASVVSKGGLSTGVASLSSTINPCGHLFRTAGDQPFNLSTVSSAFPMVSHPVFGLHSASSGHSEFGGLGTLGTPTALAAHP
QLASFPGAEWWRTTDAHTRTGATFFPPLLGIPPLFAPPAQNHDSSSFHSRTSGKSNRNGPEKGVNGSINGSNTSSVIGINTSVLSTTASSSMGQTKSTSSGGGNR
KCNQEQSKNQPLDARVDKIKDKKPRKKAMESSSNSDSDSGTSSDTSSEGISSSDSDDLEEDEEEEDQSIEESEDDDSDSESEAQHKSNNQVLLHGISDPKADGQK
ATEKAQEKRIHQPLPLASESQTHSFQSQQKQPQVLSQQLPFIFQSSQAKEESVNKHTSVIQSTGLVSNVKPLSLVNQAKKETYMKLIVPSPDVLKAGNKNTSEES
SLLTSELRSKREQYKQAFPSQLKKQESSKSLKKVIAALSNPKATSSSPAHPKQTLENNHPNPFLTNALLGNHQPNGVIQSVIQEAPLALTTKTKMQSKINENIAA
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top