AutismKB 2.0

Evidence Details for BCL6


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Basic Information Top
Gene Symbol:BCL6 ( BCL5,BCL6A,LAZ3,ZBTB27,ZNF51 )
Gene Full Name: B-cell CLL/lymphoma 6
Band: 3q27.3
Quick LinksEntrez ID:604; OMIM: 109565; Uniprot ID:BCL6_HUMAN; ENSEMBL ID: ENSG00000113916; HGNC ID: 1001
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BCL6|604|nucleotide
ATGGCCTCGCCGGCTGACAGCTGTATCCAGTTCACCCGCCATGCCAGTGATGTTCTTCTCAACCTTAATCGTCTCCGGAGTCGAGACATCTTGACTGATGTTGTC
ATTGTTGTGAGCCGTGAGCAGTTTAGAGCCCATAAAACGGTCCTCATGGCCTGCAGTGGCCTGTTCTATAGCATCTTTACAGACCAGTTGAAATGCAACCTTAGT
GTGATCAATCTAGATCCTGAGATCAACCCTGAGGGATTCTGCATCCTCCTGGACTTCATGTACACATCTCGGCTCAATTTGCGGGAGGGCAACATCATGGCTGTG
ATGGCCACGGCTATGTACCTGCAGATGGAGCATGTTGTGGACACTTGCCGGAAGTTTATTAAGGCCAGTGAAGCAGAGATGGTTTCTGCCATCAAGCCTCCTCGT
GAAGAGTTCCTCAACAGCCGGATGCTGATGCCCCAAGACATCATGGCCTATCGGGGTCGTGAGGTGGTGGAGAACAACCTGCCACTGAGGAGCGCCCCTGGGTGT
GAGAGCAGAGCCTTTGCCCCCAGCCTGTACAGTGGCCTGTCCACACCGCCAGCCTCTTATTCCATGTACAGCCACCTCCCTGTCAGCAGCCTCCTCTTCTCCGAT
GAGGAGTTTCGGGATGTCCGGATGCCTGTGGCCAACCCCTTCCCCAAGGAGCGGGCACTCCCATGTGATAGTGCCAGGCCAGTCCCTGGTGAGTACAGCCGGCCG
ACTTTGGAGGTGTCCCCCAATGTGTGCCACAGCAATATCTATTCACCCAAGGAAACAATCCCAGAAGAGGCACGAAGTGATATGCACTACAGTGTGGCTGAGGGC
CTCAAACCTGCTGCCCCCTCAGCCCGAAATGCCCCCTACTTCCCTTGTGACAAGGCCAGCAAAGAAGAAGAGAGACCCTCCTCGGAAGATGAGATTGCCCTGCAT
TTCGAGCCCCCCAATGCACCCCTGAACCGGAAGGGTCTGGTTAGTCCACAGAGCCCCCAGAAATCTGACTGCCAGCCCAACTCGCCCACAGAGTCCTGCAGCAGT
AAGAATGCCTGCATCCTCCAGGCTTCTGGCTCCCCTCCAGCCAAGAGCCCCACTGACCCCAAAGCCTGCAACTGGAAGAAATACAAGTTCATCGTGCTCAACAGC
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>BCL6|604|protein
MASPADSCIQFTRHASDVLLNLNRLRSRDILTDVVIVVSREQFRAHKTVLMACSGLFYSIFTDQLKCNLSVINLDPEINPEGFCILLDFMYTSRLNLREGNIMAV
MATAMYLQMEHVVDTCRKFIKASEAEMVSAIKPPREEFLNSRMLMPQDIMAYRGREVVENNLPLRSAPGCESRAFAPSLYSGLSTPPASYSMYSHLPVSSLLFSD
EEFRDVRMPVANPFPKERALPCDSARPVPGEYSRPTLEVSPNVCHSNIYSPKETIPEEARSDMHYSVAEGLKPAAPSARNAPYFPCDKASKEEERPSSEDEIALH
FEPPNAPLNRKGLVSPQSPQKSDCQPNSPTESCSSKNACILQASGSPPAKSPTDPKACNWKKYKFIVLNSLNQNAKPEGPEQAELGRLSPRAYTAPPACQPPMEP
ENLDLQSPTKLSASGEDSTIPQASRLNNIVNRSMTGSPRSSSESHSPLYMHPPKCTSCGSQSPQHAEMCLHTAGPTFPEEMGETQSEYSDSSCENGAFFCNECDC
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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 (1) 0 (2) 1 (1) 0 (0) 1 (1) 0 (0) 0 (2) 0 (0) 0 (0) 3 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top