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BRWD1 Gene

protein-coding   GIFtS: 55
GCID: GC21M040556

Bromodomain And WD Repeat Domain Containing 1

(Previous names: chromosome 21 open reading frame 107, WD repeat domain 9)
(Previous symbols: C21orf107, WDR9)
  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 11 2     WD Repeat Domain 91
C21orf1071 2 3     N1432
WDR91 2 3     Bromodomain And WD Repeat-Containing Protein 12
WD Repeat-Containing Protein 92 3     Transcriptional Unit N1432
Chromosome 21 Open Reading Frame 1071     WD Repeat Protein WDR9-Form22

External Ids:    HGNC: 127601   Entrez Gene: 540142   Ensembl: ENSG000001856587   UniProtKB: Q9NSI63   

Export aliases for BRWD1 gene to outside databases

Previous GC identifers: GC21M039480 GC21M026027


(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 BRWD1 Gene:
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of
approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate
formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of
cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This
protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2
on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct
isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions
as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component
of the SWI/SNF chromatin remodelling complex.(provided by RefSeq, Jun 2011)

GeneCards Summary for BRWD1 Gene:
BRWD1 (bromodomain and WD repeat domain containing 1) is a protein-coding gene. Diseases associated with BRWD1 include coronin-1a deficiency, and triple-a syndrome. An important paralog of this gene is PHIP.

UniProtKB/Swiss-Prot: BRWD1_HUMAN, Q9NSI6
Function: May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a
role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape

Gene Wiki entry for BRWD1 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_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRWD1 gene promoter:
         STAT1   Tal-1   STAT1beta   Tal-1beta   STAT1alpha   E47   STAT2   STAT3   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRWD1 promoter sequence
   Search Chromatin IP Primers for BRWD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRWD1


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

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.2   HGNC cytogenetic band: 21q22.2

BRWD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRWD1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M040556:  view genomic region     (about GC identifiers)

Start:
40,556,102 bp from pter      End:
40,693,485 bp from pter
Size:
137,384 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BRWD1_HUMAN, Q9NSI6 (See protein sequence)
Recommended Name: Bromodomain and WD repeat-containing protein 1  
Size: 2320 amino acids; 262936 Da
Subunit: Interacts with SMARCA4 (By similarity)
Sequence caution: Sequence=CAA10896.1; Type=Frameshift; Positions=1762, 1770;
1 PDB 3D structure from and Proteopedia for BRWD1:
3Q2E (3D)    
Secondary accessions: C9JK25 O43721 Q5R2V0 Q5R2V1 Q6P2D1 Q8TCV3 Q96QG9 Q96QH0 Q9NUK1
Alternative splicing: 4 isoforms:  Q9NSI6-1   Q9NSI6-2   Q9NSI6-3   Q9NSI6-4   (Contains a phosphoserine at position 2214)

Explore the universe of human proteins at neXtProt for BRWD1: NX_Q9NSI6

Explore proteomics data for BRWD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1037
  • Modification sites at PhosphoSitePlus

  • See BRWD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001007247.1  NP_061836.2  NP_387505.1  

    ENSEMBL proteins: 
     ENSP00000330753   ENSP00000391014   ENSP00000344333   ENSP00000370178   ENSP00000415066  
     ENSP00000395575   ENSP00000393702   ENSP00000390684   ENSP00000389882   ENSP00000398900  
     ENSP00000342106  

    BRWD1 Human Recombinant Protein Products:

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    Novus Biologicals BRWD1 Protein
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    Cloud-Clone Corp. Proteins for BRWD1

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    Cloud-Clone Corp. CLIAs for BRWD1


    (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

    Selected InterPro protein domains (see all 6):
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q9NSI6

    ProtoNet protein and cluster: Q9NSI6

    1 Blocks protein domain: IPB001487 Bromodomain signature

    UniProtKB/Swiss-Prot: BRWD1_HUMAN, Q9NSI6
    Similarity: Contains 2 bromo domains
    Similarity: Contains 8 WD repeats


    BRWD1 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: BRWD1_HUMAN, Q9NSI6
    Function: May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a
    role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    BRWD1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BRWD1:
     Increased cell death in breast  Increased circadian rhythm amp 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Brwd1):
     reproductive system 

    BRWD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BRWD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRWD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRWD1

    miRNA
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    miRTarBase miRNAs that target BRWD1:
    hsa-mir-192-5p (MIRT048284), hsa-mir-128-3p (MIRT045856), hsa-mir-15a-5p (MIRT051333), hsa-mir-33a-5p (MIRT028227), hsa-mir-130b-3p (MIRT020133), hsa-mir-106b-5p (MIRT044300), hsa-mir-124-3p (MIRT022230)

    Block miRNA regulation of human, mouse, rat BRWD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRWD1 (see all 131):
    hsa-miR-3938 hsa-miR-376b hsa-miR-605 hsa-miR-138-2* hsa-miR-519a hsa-miR-4275 hsa-miR-130b hsa-miR-374b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BRWD1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): BRWD1 (NM_018963)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRWD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRWD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRWD1


    (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 UniProtKB/Swiss-Prot
    BRWD1_HUMAN, Q9NSI6: Cytoplasm. Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    cytoskeleton2
    extracellular1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16780588
    GO:0005730nucleolus ----
    GO:0005737cytoplasm IEA--

    BRWD1 for ontologies           About GeneDecksing


    (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 Arrays including BRWD1: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BRWD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for BRWD1 (Q9NSI63 ENSP000003307534) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    ENSG00000233911Q018603I2D: score=2 
    ENSG00000235068Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0007010cytoskeleton organization IMP--
    GO:0008360regulation of cell shape IMP--

    BRWD1 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 BRWD1



    (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,
    Conferences by KenesGroup, 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 BRWD1 gene (3 alternative transcripts): 
    NM_001007246.2  NM_018963.4  NM_033656.3  

    Unigene Cluster for BRWD1:

    Bromodomain and WD repeat domain containing 1
    Hs.654740  [show with all ESTs]
    Unigene Representative Sequence: NM_033656
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333229(uc010goc.1 uc002yxk.2) ENST00000446924 ENST00000342449(uc021wjf.1)
    ENST00000380800(uc010god.1 uc010goe.1 uc010gof.1 uc010gog.1 uc010goh.1 uc010goi.1)
    ENST00000491564 ENST00000424441 ENST00000473813 ENST00000445668 ENST00000430093
    ENST00000445245 ENST00000455867 ENST00000412604 ENST00000496759 ENST00000341322(uc002yxm.3)
    ENST00000470108 ENST00000484090
    miRNA
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    Block miRNA regulation of human, mouse, rat BRWD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRWD1 (see all 131):
    hsa-miR-3938 hsa-miR-376b hsa-miR-605 hsa-miR-138-2* hsa-miR-519a hsa-miR-4275 hsa-miR-130b hsa-miR-374b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BRWD1
    Predesigned siRNA for gene silencing in human, mouse, rat BRWD1
    Clone
    Products:
         
    OriGene clones in human, mouse for BRWD1 (see all 16)
    OriGene ORF clones in mouse, rat for BRWD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BRWD1 (NM_018963)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRWD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRWD1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BRWD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRWD1
      QuantiTect SYBR Green Assays in human, mouse, rat BRWD1
      QuantiFast Probe-based Assays in human, mouse, rat BRWD1

    Additional mRNA sequence: 

    AB080586.1 AB080587.1 AB080588.1 AB080589.1 AB080590.1 AB080591.1 AB080592.1 AB080593.1 
    AJ002572.1 AJ002574.1 AJ222635.1 AJ222636.1 AJ238214.2 AJ238555.1 AJ238556.1 AJ238573.1 
    AJ292465.1 AJ292466.1 AK002177.1 AK125906.1 AL109785.1 AL109786.1 AL162036.1 BC031545.1 
    BC047058.1 BC064602.1 BC142986.1 

    23 DOTS entries:

    DT.210212  DT.454414  DT.70104438  DT.100752261  DT.95271805  DT.121134020  DT.100784228  DT.121134073 
    DT.121134088  DT.436907  DT.121134069  DT.121134103  DT.95120037  DT.95356061  DT.97764670  DT.99983705 
    DT.100752263  DT.121134082  DT.95266349  DT.427063  DT.91882943  DT.91952760  DT.95112507 

    Selected AceView cDNA sequences (see all 347):

    CB851258 AI301051 AA516132 T30919 AA459446 BE348426 AJ292465 BG168789 
    AI307190 AI004650 BX484866 AW183692 AK002177 BM674679 CR593840 AA463477 
    AI640519 AA948591 CK299995 AA767351 AA918556 AL705900 BM924529 AI693071 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BRWD1 (see all 9)    About this scheme

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

    ExUns: 23b ^ 24a · 24b · 24c · 24d ^ 25
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for BRWD1

    (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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    BRWD1 expression in normal human tissues (normalized intensities)      BRWD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BRWD1 Expression
    About this image


    BRWD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             Ureter
    BRWD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRWD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654740

    UniProtKB/Swiss-Prot: BRWD1_HUMAN, Q9NSI6
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BRWD1: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BRWD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BRWD1
    QuantiTect SYBR Green Assays in human, mouse, rat BRWD1
    QuantiFast Probe-based Assays in human, mouse, rat BRWD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRWD1

    (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 BRWD1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brwd11 , 5 bromodomain and WD repeat domain containing 11, 5 81.6(n)1
    80.86(a)1
      16 (56.77 cM)5
    938711  NM_145125.31  NP_660107.21 
     959924495 
    chicken
    (Gallus gallus)
    Aves BRWD11 bromodomain and WD repeat domain containing 1 69.04(n)
    67.06(a)
      418521  XM_416730.4  XP_416730.4 
    lizard
    (Anolis carolinensis)
    Reptilia BRWD16
    bromodomain and WD repeat domain containing 1
    51(a)
    1 ↔ 1
    3(139743736-139807241)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.151152 Transcribed sequence with weak similarity to protein more 75.07(n)    BX769945.1 
    zebrafish
    (Danio rerio)
    Actinopterygii brwd11 bromodomain and WD repeat domain containing 1 62.86(n)
    64.13(a)
      798858  XM_001920406.4  XP_001920441.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta BRWD36
    BRWD3
    32(a)
    1 → many
    3R(20144741-20154341)


    ENSEMBL Gene Tree for BRWD1 (if available)
    TreeFam Gene Tree for BRWD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BRWD1 gene
    PHIP2  BRWD32  
    5 SIMAP similar genes for BRWD1 using alignment to 10 protein entries:     BRWD1_HUMAN (see all proteins):
    WDR9    BRWD3    PHIP    GNB5    WDR83

    BRWD1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for BRWD1
    PGOHUM00000239542 PGOHUM00000244611 PGOHUM00000232603


    (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 BRWD1 (see all 3339)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs72781441,2
    C--31105416(+) ATTTTC/TTGCAA 2 -- ds5001 ese30--------
    rs767428421,2
    C--31105611(+) AAAAAG/TGATTT 2 -- ds50010--------
    rs781490631,2
    C,F--31105625(+) TATGCA/CAGACT 2 -- ds50011Minor allele frequency- C:0.07WA 118
    rs124817621,2
    C,H--31105642(+) ACAATC/TTCAAA 2 -- ds50010--------
    rs1488170711,2
    C--31105659(+) CAGAAA/GTTAAC 2 -- ds50010--------
    rs1912341761,2
    --31105662(+) AAATTA/CACCCC 2 -- ds50010--------
    rs72783611,2
    C,A--31105668(+) ACCCCA/CCCACA 2 -- ds50010--------
    rs1162370921,2
    F--31105812(+) GGACAT/CAATAT 2 -- ds50011Minor allele frequency- C:0.07WA 118
    rs65175231,2
    C,F,A,H--31105833(+) TATTAT/CAAATT 2 -- ds500118Minor allele frequency- C:0.22NS EA NA WA CSA 2342
    rs2012573561,2
    --31106130(+) TGTAT-/AACAAAAA 2 -- cds10--------

    HapMap Linkage Disequilibrium report for BRWD1 (40556102 - 40693485 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BRWD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv913744CNV Loss21882294

    Human Gene Mutation Database (HGMD): BRWD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BRWD1
    DNA2.0 Custom Variant and Variant Library Synthesis for BRWD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    8 diseases for BRWD1:    About MalaCards
    coronin-1a deficiency    triple-a syndrome    down syndrome    achalasia
    inflammatory bowel disease    bipolar disorder    cerebritis    malaria

    3 diseases from the University of Copenhagen DISEASES database for BRWD1:
    triple-A syndrome     coronin-1A deficiency     Achalasia

    BRWD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BRWD1
    Human Genome Epidemiology (HuGE) Navigator: BRWD1 (2 documents)

    Export disorders for BRWD1 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 BRWD1 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with BRWD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. (PubMed id 12359327)1, 2, 9 Ramos V.C.... Oliva R. (Biochim. Biophys. Acta 2002)
    2. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. (PubMed id 22365631)1, 4 Greenwood T.A....Kelsoe J.R. (Biol. Psychiatry 2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease. (PubMed id 20014019)1, 4 Dubinsky M.C....Rotter J.I. (Inflamm. Bowel Dis. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    7. High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. (PubMed id 9480850)1, 2 Vidal-Taboada J.M.... Oliva R. (Biochem. Biophys. Res. Commun. 1998)
    8. Histone recognition and large-scale structural analysis of the human bromodomain family. (PubMed id 22464331)2 Filippakopoulos P.... Knapp S. (Cell 2012)
    9. 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)
    10. 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)

    (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: 54014 HGNC: 12760 AceView: C21orf107 Ensembl:ENSG00000185658 euGenes: HUgn54014
    ECgene: BRWD1 H-InvDB: BRWD1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for BRWD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BRWD1 gene:
    Search GeneIP for patents involving BRWD1

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



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