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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.08269 Up 6.86719
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1758918
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018