AutismKB 2.0

Evidence Details for BAT2


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Basic Information Top
Gene Symbol:BAT2 ( D6S51,D6S51E,DKFZp686D09175,G2 )
Gene Full Name: HLA-B associated transcript 2
Band: 6p21.3
Quick LinksEntrez ID:7916; OMIM: 142580; Uniprot ID:BAT2_HUMAN; ENSEMBL ID: ENSG00000204469; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BAT2|7916|nucleotide
ATGTCCGATCGCTCGGGGCCGACTGCCAAGGGAAAGGATGGAAAGAAGTATTCCTCGCTCAACCTGTTTGATACGTATAAGGGCAAGTCCTTAGAGATCCAGAAA
CCCGCTGTTGCCCCTCGCCATGGCCTGCAGAGTCTCGGGAAAGTTGCCATTGCCCGGCGTATGCCACCTCCAGCCAACCTTCCAAGCCTGAAAGCCGAGAACAAA
GGCAATGACCCCAATGTCTCACTAGTGCCAAAAGACGGAACAGGATGGGCAAGCAAACAGGAGCAGTCCGACCCCAAGAGTTCCGATGCCTCAACCGCTCAGCCG
CCGGAATCGCAGCCACTGCCGGCTTCACAGACGCCTGCCTCCAACCAGCCGAAACGACCCCCAGCAGCCCCCGAGAACACTCCTTTGGTTCCAAGCGGGGTAAAG
TCCTGGGCACAAGCCAGCGTCACCCATGGAGCACATGGAGATGGTGGAAGGGCATCAAGCCTACTGTCACGATTCTCTCGAGAGGAATTTCCGACCCTGCAGGCG
GCTGGCGACCAGGACAAGGCTGCCAAGGAAAGGGAGTCTGCCGAACAGTCGTCTGGGCCCGGACCAAGCCTCCGCCCCCAAAATTCTACAACTTGGAGGGACGGA
GGTGGGCGTGGCCCTGATGAGCTGGAGGGCCCGGACTCCAAACTTCATCATGGTCATGATCCCCGGGGTGGGCTACAGCCTTCAGGCCCACCCCAGTTCCCTCCC
TACCGCGGAATGATGCCGCCTTTCATGTATCCCCCATATCTCCCGTTCCCTCCGCCCTATGGACCCCAGGGGCCTTACCGATACCCCACTCCTGATGGGCCCAGC
CGTTTTCCCCGTGTGGCGGGCCCCCGAGGCTCAGGGCCACCAATGCGCTTAGTAGAGCCTGTGGGTCGTCCCTCTATTCTCAAAGAGGATAATCTCAAAGAGTTT
GATCAGTTGGATCAGGAGAATGATGATGGTTGGGCAGGGGCCCATGAAGAGGTTGACTACACTGAAAAGCTCAAGTTCAGCGATGAGGAAGATGGGCGAGACTCT
GATGAGGAGGGTGCTGAGGGCCACAGGGATTCCCAATCAGCTTCTGGTGAGGAACGGCCCCCTGAAGCAGATGGCAAAAAGGGCAACTCCCCCAACAGCGAACCG
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>BAT2|7916|protein
MSDRSGPTAKGKDGKKYSSLNLFDTYKGKSLEIQKPAVAPRHGLQSLGKVAIARRMPPPANLPSLKAENKGNDPNVSLVPKDGTGWASKQEQSDPKSSDASTAQP
PESQPLPASQTPASNQPKRPPAAPENTPLVPSGVKSWAQASVTHGAHGDGGRASSLLSRFSREEFPTLQAAGDQDKAAKERESAEQSSGPGPSLRPQNSTTWRDG
GGRGPDELEGPDSKLHHGHDPRGGLQPSGPPQFPPYRGMMPPFMYPPYLPFPPPYGPQGPYRYPTPDGPSRFPRVAGPRGSGPPMRLVEPVGRPSILKEDNLKEF
DQLDQENDDGWAGAHEEVDYTEKLKFSDEEDGRDSDEEGAEGHRDSQSASGEERPPEADGKKGNSPNSEPPTPKTAWAETSRPPETEPGPPAPKPPLPPPHRGPA
GNWGPPGDYPDRGGPPCKPPAPEDEDEAWRQRRKQSSSEISLAVERARRRREEEERRMQEERRAACAEKLKRLDEKFGAPDKRLKAEPAAPPAAPSTPAPPPAVP
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top