AutismKB 2.0

Evidence Details for BCL9L


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Basic Information Top
Gene Symbol:BCL9L ( BCL9-2,DLNB11 )
Gene Full Name: B-cell CLL/lymphoma 9-like
Band: 11q23.3
Quick LinksEntrez ID:283149; OMIM: 609004; Uniprot ID:BCL9L_HUMAN; ENSEMBL ID: ENSG00000186174; HGNC ID: 23688
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BCL9L|283149|nucleotide
ATGAGGATCCTGGCTAACAAGACAAGGTTACCCCACCCCAGGAGGAGAGAAGCTCCAGGGAGCCCGCCGCTGTCCCCCCGCGGTCATTGCCCCCCTGCCCCAGCC
AAGCCAATGCACCCAGAAAATAAATTGACCAATCATGGCAAGACAGGGAATGGCGGGGCCCAATCTCAGCACCAGAATGTGAACCAAGGACCCACCTGCAACGTG
GGCTCGAAGGGCGTGGGGGCGGGGAACCATGGGGCCAAGGCCAACCAGATCTCGCCTAGCAACTCAAGTCTGAAGAACCCCCAGGCAGGGGTGCCCCCTTTCAGC
TCGCTCAAGGGCAAGGTGAAGAGGGACCGGAGTGTGTCTGTGGACTCTGGAGAGCAGCGAGAGGCTGGGACCCCATCCCTGGATTCAGAGGCCAAAGAGGTGGCG
CCGCGGAGTAAGCGGCGCTGTGTGCTGGAGCGGAAGCAGCCGTACAGTGGGGACGAATGGTGCTCTGGACCGGACAGTGAGGAGGACGACAAGCCCATTGGGGCC
ACCCACAATTGTAATGTAGCAGACCCAGCCATGGCGGCCCCACAGCTGGGTCCCGGCCAAACCACCCAACTGCCCCTCAGCGAGAGCAGCGTGCCAGGCGCCCCG
CACGGCCCTCCTCCTGGCCTTCGGCCTGATGCCCCTGGGGGCGGGGGCGGGGGCGGGGGCGTCCCCGGAAAGCCTCCCTCGCAGTTCGTATATGTCTTCACCACC
CACCTGGCCAACACGGCTGCAGAGGCAGTGCTGCAGGGCCGGGCCGACTCCATCCTCGCCTACCACCAGCAGAACGTGCCCCGGGCCAAGCTTGACCAGGCCCCT
AAAGTGCCCCCCACCCCAGAACCGCTACCCCTGAGCACGCCGTCAGCAGGCACCCCGCAGTCCCAGCCACCTCCACTGCCGCCGCCGCCACCCCCGGCCCCTGGC
AGTGCCCCGCCTGCTCTGCCCCCAGAGGGGCCTCCTGAGGACAGCAGTCAGGACCTGGCCCCCAACTCGGTGGGAGCTGCCAGCACAGGTGGTGGGACTGGGGGC
ACCCACCCTAACACCCCGACGGCTACCACCGCCAACAACCCTCTGCCTCCTGGAGGAGACCCCAGCAGTGCCCCCGGCCCTGCCCTGCTGGGGGAGGCAGCCGCC
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>BCL9L|283149|protein
MRILANKTRLPHPRRREAPGSPPLSPRGHCPPAPAKPMHPENKLTNHGKTGNGGAQSQHQNVNQGPTCNVGSKGVGAGNHGAKANQISPSNSSLKNPQAGVPPFS
SLKGKVKRDRSVSVDSGEQREAGTPSLDSEAKEVAPRSKRRCVLERKQPYSGDEWCSGPDSEEDDKPIGATHNCNVADPAMAAPQLGPGQTTQLPLSESSVPGAP
HGPPPGLRPDAPGGGGGGGGVPGKPPSQFVYVFTTHLANTAAEAVLQGRADSILAYHQQNVPRAKLDQAPKVPPTPEPLPLSTPSAGTPQSQPPPLPPPPPPAPG
SAPPALPPEGPPEDSSQDLAPNSVGAASTGGGTGGTHPNTPTATTANNPLPPGGDPSSAPGPALLGEAAAPGNGQRSLVGSEGLSKEQLEHRERSLQTLRDIERL
LLRSGETEPFLKGPPGGAGEGGPPAQAPPPPQQPPTAPPSGLKKYEEPLQSMISQTQSLGGPPLEHEVPGHPPGGDMGQQMNMMIQRLGQDSLTPEQVAWRKLQE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top