AutismKB 2.0

Evidence Details for BRD3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BRD3 ( FLJ23227,FLJ41328,KIAA0043,ORFX,RING3L )
Gene Full Name: bromodomain containing 3
Band: 9q34.2
Quick LinksEntrez ID:8019; OMIM: 601541; Uniprot ID:BRD3_HUMAN; ENSEMBL ID: ENSG00000169925; HGNC ID: 1104
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BRD3|8019|nucleotide
ATGTCCACCGCCACGACAGTCGCCCCCGCGGGGATCCCGGCGACCCCGGGCCCTGTGAACCCACCCCCCCCGGAGGTCTCCAACCCCAGCAAGCCCGGCCGCAAG
ACCAACCAGCTGCAGTACATGCAGAATGTGGTGGTGAAGACGCTCTGGAAACACCAGTTCGCCTGGCCCTTCTACCAGCCCGTGGACGCAATCAAATTGAACCTG
CCGGATTATCATAAAATAATTAAAAACCCAATGGATATGGGGACTATTAAGAAGAGACTAGAAAATAATTATTATTGGAGTGCAAGCGAATGTATGCAGGACTTC
AACACCATGTTTACAAATTGTTACATTTATAACAAGCCCACAGATGACATAGTGCTAATGGCCCAAGCTTTAGAGAAAATTTTTCTACAAAAAGTGGCCCAGATG
CCCCAAGAGGAAGTTGAATTATTACCCCCTGCTCCAAAGGGCAAAGGTCGGAAGCCGGCTGCGGGAGCCCAGAGCGCAGGTACACAGCAAGTGGCGGCCGTGTCC
TCTGTCTCCCCAGCGACCCCCTTTCAGAGCGTGCCCCCCACCGTCTCCCAGACGCCCGTCATCGCTGCCACCCCTGTACCAACCATCACTGCAAACGTCACGTCG
GTCCCAGTCCCCCCAGCTGCCGCCCCACCTCCTCCTGCCACACCCATCGTCCCCGTGGTCCCTCCTACGCCGCCTGTCGTCAAGAAAAAGGGCGTGAAGCGGAAA
GCAGACACAACCACTCCCACGACGTCGGCCATCACTGCCAGCCGGAGTGAGTCGCCCCCGCCGTTGTCAGACCCCAAGCAGGCCAAAGTGGTGGCCCGGCGGGAG
AGTGGTGGCCGCCCCATCAAGCCTCCCAAGAAGGACCTGGAGGACGGCGAGGTGCCCCAGCACGCAGGCAAGAAGGGCAAGCTGTCGGAGCACCTACGCTACTGC
GACAGCATCCTCAGGGAGATGCTATCCAAGAAGCACGCGGCCTACGCCTGGCCCTTCTACAAGCCAGTGGATGCCGAGGCCCTGGAGCTGCACGACTACCACGAC
ATCATCAAGCACCCGATGGACCTCAGCACCGTGAAAAGGAAGATGGATGGCCGAGAGTACCCAGACGCACAGGGCTTTGCTGCTGATGTCCGGCTGATGTTCTCG
Show »

>BRD3|8019|protein
MSTATTVAPAGIPATPGPVNPPPPEVSNPSKPGRKTNQLQYMQNVVVKTLWKHQFAWPFYQPVDAIKLNLPDYHKIIKNPMDMGTIKKRLENNYYWSASECMQDF
NTMFTNCYIYNKPTDDIVLMAQALEKIFLQKVAQMPQEEVELLPPAPKGKGRKPAAGAQSAGTQQVAAVSSVSPATPFQSVPPTVSQTPVIAATPVPTITANVTS
VPVPPAAAPPPPATPIVPVVPPTPPVVKKKGVKRKADTTTPTTSAITASRSESPPPLSDPKQAKVVARRESGGRPIKPPKKDLEDGEVPQHAGKKGKLSEHLRYC
DSILREMLSKKHAAYAWPFYKPVDAEALELHDYHDIIKHPMDLSTVKRKMDGREYPDAQGFAADVRLMFSNCYKYNPPDHEVVAMARKLQDVFEMRFAKMPDEPV
EAPALPAPAAPMVSKGAESSRSSEESSSDSGSSDSEEERATRLAELQEQLKAVHEQLAALSQAPVNKPKKKKEKKEKEKKKKDKEKEKEKHKVKAEEEKKAKVAP
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 11 (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
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
Kuwano, 2011_2 Japan Mother with ASD children 21
(100.00%)
---- 21
(100.00%)
2.02 Up 0.00111
  • Platform: Agilent
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE26415
  • Statistic Method: unpaired t test with Benjamini-Hochberg corrrection for multiple comparisons at the 0.05 FDR
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
Li J, 2017 536 - 22 Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au
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