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BRWD3 Gene

protein-coding   GIFtS: 50
GCID: GC0XM079926

Bromodomain And WD Repeat Domain Containing 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bromodomain And WD Repeat Domain Containing 31 2
MRX932 5
BRODL2
Bromo Domain-Containing Protein Disrupted In Leukemia2
Bromodomain And WD Repeat-Containing Protein 32
Novel WD Repeat Domain Protein2

External Ids:    HGNC: 173421   Entrez Gene: 2540652   Ensembl: ENSG000001652887   OMIM: 3005535   UniProtKB: Q6RI453   

Export aliases for BRWD3 gene to outside databases

Previous GC identifers: GC0XM079738 GC0XM073504


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BRWD3 Gene:
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a
chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental
retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This
gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. (provided by
RefSeq, May 2010)

GeneCards Summary for BRWD3 Gene:
BRWD3 (bromodomain and WD repeat domain containing 3) is a protein-coding gene. Diseases associated with BRWD3 include chronic lymphocytic leukemia, and mental retardation, x-linked. An important paralog of this gene is PHIP.

UniProtKB/Swiss-Prot: BRWD3_HUMAN, Q6RI45
Function: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control
of cell shape

Gene Wiki entry for BRWD3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRWD3 gene promoter:
         Elk-1   GATA-3   Egr-1   NF-kappaB   Meis-1b   GATA-1   GATA-2   Meis-1a   NF-kappaB1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRWD3 promoter sequence
   Search Chromatin IP Primers for BRWD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRWD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.1   Ensembl cytogenetic band:  Xq21.1   HGNC cytogenetic band: Xq21.1

BRWD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRWD3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM079926:  view genomic region     (about GC identifiers)

Start:
79,924,987 bp from pter      End:
80,065,233 bp from pter
Size:
140,247 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BRWD3_HUMAN, Q6RI45 (See protein sequence)
Recommended Name: Bromodomain and WD repeat-containing protein 3  
Size: 1802 amino acids; 203598 Da
Developmental stage: Expressed in fetal liver
Caution: The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but
BRWD3 is localized to Xq21 and not to Xq13
Sequence caution: Sequence=BAC04641.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: C9IZ39 C9J3F3 Q2T9J6 Q5JRN1 Q6RI37 Q6RI42 Q6RI44 Q8N916
Alternative splicing: 5 isoforms:  Q6RI45-1   Q6RI45-2   Q6RI45-3   Q6RI45-4   Q6RI45-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRWD3: NX_Q6RI45

Explore proteomics data for BRWD3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys987
  • Modification sites at PhosphoSitePlus

  • See BRWD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_694984.4  
    ENSEMBL proteins: 
     ENSP00000362372  

    BRWD3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR001487 Bromodomain
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q6RI45

    ProtoNet protein and cluster: Q6RI45

    UniProtKB/Swiss-Prot: BRWD3_HUMAN, Q6RI45
    Similarity: Contains 2 bromo domains
    Similarity: Contains 9 WD repeats


    BRWD3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRWD3_HUMAN, Q6RI45
    Function: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control
    of cell shape

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BRWD3 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Brwd3):
     craniofacial  embryogenesis  growth/size/body  limbs/digits/tail 

    BRWD3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BRWD3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BRWD3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRWD3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRWD3

    miRNA
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    miRTarBase miRNAs that target BRWD3:
    hsa-mir-378a-3p (MIRT043868)

    Block miRNA regulation of human, mouse, rat BRWD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRWD3 (see all 209):
    hsa-miR-193a-3p hsa-miR-3938 hsa-miR-376b hsa-miR-199a-3p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidBRWD3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BRWD3

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    GenScript: all cDNA clones in your preferred vector: BRWD3 (NM_153252)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BRWD3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRWD3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including BRWD3: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BRWD3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for BRWD3 (Q6RI453 ENSP000003623724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBXN7O948883, ENSP000002963284I2D: score=2 STRING: ENSP00000296328
    CSNK2A1ENSP000002172444STRING: ENSP00000217244
    CSNK2A2ENSP000002625064STRING: ENSP00000262506
    PGK1ENSP000003624134STRING: ENSP00000362413
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization IMP--
    GO:0008360regulation of cell shape IMP--

    BRWD3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BRWD3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BRWD3 gene: 
    NM_153252.4  

    Unigene Cluster for BRWD3:

    Bromodomain and WD repeat domain containing 3
    Hs.147027  [show with all ESTs]
    Unigene Representative Sequence: NM_153252
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373275(uc010nmi.2 uc004edo.3 uc004edp.3 uc004edq.3 uc010nmj.2 uc004edr.3 uc004eds.3 uc004edt.3 uc004edu.3 uc004edv.3 uc004edw.3 uc004edx.3 uc004edy.3 uc004edz.3 uc004eea.3 uc004eeb.3)
    ENST00000473691 ENST00000497335 ENST00000487313 ENST00000478415
    miRNA
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    Block miRNA regulation of human, mouse, rat BRWD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRWD3 (see all 209):
    hsa-miR-193a-3p hsa-miR-3938 hsa-miR-376b hsa-miR-199a-3p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidBRWD3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BRWD3
    Predesigned siRNA for gene silencing in human, mouse, rat BRWD3
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    OriGene clones in human, mouse for BRWD3 (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BRWD3 (NM_153252)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRWD3
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BRWD3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BRWD3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRWD3
      QuantiTect SYBR Green Assays in human, mouse, rat BRWD3
      QuantiFast Probe-based Assays in human, mouse, rat BRWD3

    Additional mRNA sequence: 

    AK090573.1 AY497046.1 AY497047.1 AY497048.1 AY497049.1 AY497050.1 AY497051.1 AY497052.1 
    AY497053.1 AY497054.1 AY497055.1 AY497056.1 AY497057.1 AY497058.1 AY497059.1 AY497060.1 
    BC039508.2 BC111490.1 

    17 DOTS entries:

    DT.307039  DT.102831267  DT.101960142  DT.100747032  DT.102831265  DT.102831271  DT.40195162  DT.102831263 
    DT.102831266  DT.102831269  DT.102831272  DT.40239666  DT.75179219  DT.100722795  DT.91946409  DT.40200939 
    DT.97770183 

    Selected AceView cDNA sequences (see all 47):

    AY497060 NM_153252 AY497052 BU167659 AY497058 AY497051 AY497047 AI376789 
    AK095887 AY497053 AL699094 AY497049 BC039508 AY497050 AI091909 AY497046 
    AY497055 AY497057 AY497056 AY497059 AY497048 BM825209 AY497054 BE394143 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BRWD3 (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                    -                       -                                                                                                               
    SP2:                    -                       -                       -                       -                                                               
    SP3:                    -                       -     -                                         -                                                               
    SP4:                    -                       -     -                 -                                                                                       
    SP5:                    -           -           -     -                                                                                                         

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for BRWD3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BRWD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGAGAAG
    BRWD3 Expression
    About this image

    BRWD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRWD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147027

    UniProtKB/Swiss-Prot: BRWD3_HUMAN, Q6RI45
    Tissue specificity: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined

        Pathway & Disease-focused RT2 Profiler PCR Array including BRWD3: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRWD3
    QuantiTect SYBR Green Assays in human, mouse, rat BRWD3
    QuantiFast Probe-based Assays in human, mouse, rat BRWD3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRWD3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BRWD3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brwd31 , 5 bromodomain and WD repeat domain containing 31, 5 90.99(n)1
    94.83(a)1
      X (47.88 cM)5
    3822361  NM_001081477.11  NP_001074946.11 
     1087370165 
    chicken
    (Gallus gallus)
    Aves BRWD31 bromodomain and WD repeat domain containing 3 80.03(n)
    82.87(a)
      422281  XM_003641079.2  XP_003641127.2 
    lizard
    (Anolis carolinensis)
    Reptilia BRWD36
    bromodomain and WD repeat domain containing 3
    81(a)
    1 ↔ 1
    GL343826.1(128070-162230)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF150330.12   -- 72.09(n)    CF150330.1 
    zebrafish
    (Danio rerio)
    Actinopterygii brwd36
    bromodomain and WD repeat domain containing 3
    70(a)
    1 ↔ 1
    5(24757347-24779866) ENSDARG00000035540
    fruit fly
    (Drosophila melanogaster)
    Insecta BRWD36
    BRWD3
    31(a)
    1 → many
    3R(20144741-20154341)


    ENSEMBL Gene Tree for BRWD3 (if available)
    TreeFam Gene Tree for BRWD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BRWD3 gene
    PHIP2  BRWD12  
    4 SIMAP similar genes for BRWD3 using alignment to 1 protein entry:     BRWD3_HUMAN:
    WDR9    BRWD1    PHIP    WDR83

    BRWD3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BRWD3 (see all 1772)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0369404
    Mental retardation, X-linked 93 (MRX93)4--see VAR_0369402 K E mis40--------
    rs1923591291,2
    --79896430(+) TCTAGA/TCTTTT 1 -- ds50010--------
    rs66166961,2
    C,F,H--79896454(+) CATTTC/ATTATC 1 -- ds50014Minor allele frequency- A:0.01NS EA 400
    rs1877158031,2
    --79896753(+) CTAACC/TACATT 1 -- ds50010--------
    rs1926939591,2
    --79896839(+) GCATAA/TTTTTT 1 -- ds50010--------
    rs1849665311,2
    --79896916(+) TAAACA/GTACGG 1 -- ds50010--------
    rs1884989751,2
    --79897149(+) ATTAAC/TATGTT 1 -- ut310--------
    rs20635791,2
    C,F,A,H--79897189(+) ATGACG/AAAAAT 1 -- ut3121Minor allele frequency- A:0.48NA EA NS CSA 2575
    rs1922018251,2
    --79897411(+) TATCAA/TTTTGT 1 -- ut310--------
    rs1844108111,2
    --79897505(+) AGATAA/TGAACT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BRWD3 (79924987 - 80065233 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BRWD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740256CNV Deletion23290073
    esv2659332CNV Deletion23128226
    esv7232CNV Loss19470904
    esv33127CNV Loss17666407
    nsv524776CNV Gain19592680
    nsv528109CNV Gain19592680

    Human Gene Mutation Database (HGMD): BRWD3
    Locus Specific Mutation Databases (LSDB): BRWD3

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300553   
    OMIM disorders: 300659  
    UniProtKB/Swiss-Prot: BRWD3_HUMAN, Q6RI45
  • Note=A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic
    leukemia (B-CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts
    both genes
  • Mental retardation, X-linked 93 (MRX93) [MIM:300659]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. MRX93 is associated with macrocephaly. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for BRWD3:    
    About MalaCards
    chronic lymphocytic leukemia    mental retardation, x-linked    b-cell chronic lymphocytic leukemia    mental retardation
    leukemia    multiple myeloma    myeloma    breast cancer


    BRWD3 for disorders           About GeneDecksing


    Export disorders for BRWD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BRWD3 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with BRWD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. (PubMed id 15543602)1, 2, 3 Kalla C.... Lichter P. (Genes Chromosomes Cancer 2005)
    2. Identification of JAK/STAT signalling components by genome-wide RNA interference. (PubMed id 16094372)1, 3, 9 MA1ller P....Boutros M. (Nature 2005)
    3. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. (PubMed id 17668385)1, 2 Field M....Raymond F.L. (Am. J. Hum. Genet. 2007)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Comparative profiling of plasma proteome from breast cancer patients reveals thrombospondin-1 and BRWD3 as serological biomarkers. (PubMed id 22024541)1 Suh E.J....Lee C. (amp 2012)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PubMed id 21834987)2 Bai S.W.... Ridley A.J. (BMC Biol. 2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 254065 HGNC: 17342 AceView: BRODL Ensembl:ENSG00000165288 euGenes: HUgn254065
    ECgene: BRWD3 H-InvDB: BRWD3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BRWD3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BRWD3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BRWD3 gene:
    Search GeneIP for patents involving BRWD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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