AutismKB 2.0

Evidence Details for BRD2


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Basic Information Top
Gene Symbol:BRD2 ( D6S113E,DKFZp686N0336,FLJ31942,FSH,FSRG1,KIAA9001,NAT,RING3,RNF3 )
Gene Full Name: bromodomain containing 2
Band: 6p21.32
Quick LinksEntrez ID:6046; OMIM: 601540; Uniprot ID:BRD2_HUMAN; ENSEMBL ID: ENSG00000204256; HGNC ID: 1103
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BRD2|6046|nucleotide
ATGCTGCAAAACGTGACTCCCCACAATAAGCTCCCTGGGGAAGGGAATGCAGGGTTGCTGGGGCTGGGCCCAGAAGCAGCAGCACCAGGGAAGAGGATTCGAAAA
CCCTCTCTCTTGTATGAGGGCTTTGAGAGCCCCACAATGGCTTCGGTGCCTGCTTTGCAACTTACCCCTGCCAACCCACCACCCCCGGAGGTGTCCAATCCCAAA
AAGCCAGGACGAGTTACCAACCAGCTGCAATACCTACACAAGGTAGTGATGAAGGCTCTGTGGAAACATCAGTTCGCATGGCCATTCCGGCAGCCTGTGGATGCT
GTCAAACTGGGTCTACCGGATTATCACAAAATTATAAAACAGCCTATGGACATGGGTACTATTAAGAGGAGACTTGAAAACAATTATTATTGGGCTGCTTCAGAG
TGTATGCAAGATTTTAATACCATGTTCACCAACTGTTACATTTACAACAAGCCCACTGATGATATTGTCCTAATGGCACAAACGCTGGAAAAGATATTCCTACAG
AAGGTTGCATCAATGCCACAAGAAGAACAAGAGCTGGTAGTGACCATCCCTAAGAACAGCCACAAGAAGGGGGCCAAGTTGGCAGCGCTCCAGGGCAGTGTTACC
AGTGCCCATCAGGTGCCTGCCGTCTCTTCTGTGTCACACACAGCCCTGTATACTCCTCCACCTGAGATACCTACCACTGTCCTCAACATTCCCCACCCATCAGTC
ATTTCCTCTCCACTTCTCAAGTCCTTGCACTCTGCTGGACCCCCGCTCCTTGCTGTTACTGCAGCTCCTCCAGCCCAGCCCCTTGCCAAGAAAAAAGGCGTAAAG
CGGAAAGCAGATACTACCACCCCTACACCTACAGCCATCTTGGCTCCTGGTTCTCCAGCTAGCCCTCCTGGGAGTCTTGAGCCTAAGGCAGCACGGCTTCCCCCT
ATGCGTAGAGAGAGTGGTCGCCCCATCAAGCCCCCACGCAAAGACTTGCCTGACTCTCAGCAACAACACCAGAGCTCTAAGAAAGGAAAGCTTTCAGAACAGTTA
AAACATTGCAATGGCATTTTGAAGGAGTTACTCTCTAAGAAGCATGCTGCCTATGCTTGGCCTTTCTATAAACCAGTGGATGCTTCTGCACTTGGCCTGCATGAC
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>BRD2|6046|protein
MLQNVTPHNKLPGEGNAGLLGLGPEAAAPGKRIRKPSLLYEGFESPTMASVPALQLTPANPPPPEVSNPKKPGRVTNQLQYLHKVVMKALWKHQFAWPFRQPVDA
VKLGLPDYHKIIKQPMDMGTIKRRLENNYYWAASECMQDFNTMFTNCYIYNKPTDDIVLMAQTLEKIFLQKVASMPQEEQELVVTIPKNSHKKGAKLAALQGSVT
SAHQVPAVSSVSHTALYTPPPEIPTTVLNIPHPSVISSPLLKSLHSAGPPLLAVTAAPPAQPLAKKKGVKRKADTTTPTPTAILAPGSPASPPGSLEPKAARLPP
MRRESGRPIKPPRKDLPDSQQQHQSSKKGKLSEQLKHCNGILKELLSKKHAAYAWPFYKPVDASALGLHDYHDIIKHPMDLSTVKRKMENRDYRDAQEFAADVRL
MFSNCYKYNPPDHDVVAMARKLQDVFEFRYAKMPDEPLEPGPLPVSTAMPPGLAKSSSESSSEESSSESSSEEEEEEDEEDEEEEESESSDSEEERAHRLAELQE
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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 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top