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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, sign... See more...
Aliases for BRWD1 Gene
Aliases for BRWD1 Gene
External Ids for BRWD1 Gene
- HGNC: 12760
- Entrez Gene: 54014
- Ensembl: ENSG00000185658
- OMIM: 617824
- UniProtKB: Q9NSI6
Previous HGNC Symbols for BRWD1 Gene
- C21orf107
- WDR9
Previous GeneCards Identifiers for BRWD1 Gene
- GC21M039480
- GC21M040556
- GC21M026027
Summaries 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 Down Syndrome and Chordoid Meningioma. Among its related pathways are Chromatin organization and Innate Immune System. An important paralog of this gene is BRWD3.
UniProtKB/Swiss-Prot Summary for BRWD1 Gene
-
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.
Additional gene information for BRWD1 Gene
- HGNC(12760)
- Entrez Gene(54014)
- Ensembl(ENSG00000185658)
- OMIM(617824)
- UniProtKB(Q9NSI6)
- Open Targets Platform(ENSG00000185658)
- Monarch Initiative
- Search for BRWD1 at DataMed
- Search for BRWD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRWD1 Gene
Genomics for BRWD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BRWD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BRWD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRWD1
- Top Transcription factor binding sites by QIAGEN in the BRWD1 gene promoter:
-
- E47
- ITF-2
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- Tal-1
- Tal-1beta
Genomic Locations for BRWD1 Gene
Genomic Locations for BRWD1 Gene
- chr21:39,184,176-39,321,595
- (GRCh38/hg38)
- Size:
- 137,420 bases
- Orientation:
- Minus strand
- chr21:40,556,102-40,693,485
- (GRCh37/hg19)
- Size:
- 137,384 bases
- Orientation:
- Minus strand
Genomic View for BRWD1 Gene
Genes around BRWD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.2 by HGNC
- 21q22.2 by Entrez Gene
- 21q22.2 by Ensembl
BRWD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BRWD1 Gene
Proteins for BRWD1 Gene
-
Protein details for BRWD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NSI6-BRWD1_HUMAN
- Recommended name:
- Bromodomain and WD repeat-containing protein 1
- Protein Accession:
- Q9NSI6
- C9JK25
- O43721
- Q5R2V0
- Q5R2V1
- Q6P2D1
- Q8TCV3
- Q96QG9
- Q96QH0
- Q9NUK1
Protein attributes for BRWD1 Gene
- Size:
- 2320 amino acids
- Molecular mass:
- 262936 Da
- Quaternary structure:
-
- Interacts with SMARCA4.
- SequenceCaution:
-
- Sequence=CAA10896.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for BRWD1 Gene
Post-translational modifications for BRWD1 Gene
Other Protein References for BRWD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for BRWD1
-
Abcam antibodies for BRWD1
- Invitrogen Antibodies for BRWD1 (AFLGC-Brwd1)
-
Boster Bio Antibodies for BRWD1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BRWD1
- Origene Custom Protein Services for BRWD1
- antibodies-online: Show 2 available BRWD1 Proteins ranked by validation data
- Compare Top BRWD1 Proteins
-
Quality Products:
-
Abcam proteins for BRWD1
Assay Products
- antibodies-online: Show 4 available BRWD1 Elisa Kits ranked by validation data
- Compare Top BRWD1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for BRWD1 Gene
Domains & Families for BRWD1 Gene
Gene Families for BRWD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for BRWD1 Gene
- InterPro:
- Blocks:
-
- Bromodomain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for BRWD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Bromodomain and WD repeat domain containing 1, isoform CRA_a (A5PLN2_HUMAN)
- WD repeat-containing protein 9 (BRWD1_HUMAN)
- WD repeat protein (Q5R2U4_HUMAN)
- WD repeat protein (Q5R2U5_HUMAN)
- WD repeat protein (Q5R2U6_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BRWD1 Gene
Function for BRWD1 Gene
Molecular function for BRWD1 Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for BRWD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005158 | insulin receptor binding | IEA | -- |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for BRWD1 Gene
- MGI mutant phenotypes for BRWD1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for BRWD1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased IL-8 secretion
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Weakly decreased NFAT1-GFP nuclear translocation
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased shRNA abundance (Z-score > 2)
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Decreased shRNA abundance (Z-score < -2)
- Increased G1 length
- Increased S length
- Decreased replication of vaccinia virus (VACV)
- Increased circadian rhythm amplitude
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BRWD1 - Select products 50% OFF >
- * BRWD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BRWD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BRWD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BRWD1
miRNA for BRWD1 Gene
- miRTarBase miRNAs that target BRWD1
-
- mmu-miR-17-5p (MIRT010146)
- mmu-miR-34b-5p (MIRT012828)
- mmu-miR-297a-5p (MIRT013086)
- hsa-miR-130b-3p (MIRT020133)
- hsa-miR-124-3p (MIRT022230)
- hsa-miR-33a-5p (MIRT028227)
- hsa-miR-106b-5p (MIRT044300)
- hsa-miR-128-3p (MIRT045856)
- hsa-miR-192-5p (MIRT048284)
- hsa-miR-15a-5p (MIRT051333)
- mmu-miR-155-5p (MIRT053269)
- hsa-miR-4501 (MIRT085465)
- hsa-miR-10b-3p (MIRT119141)
- hsa-miR-96-5p (MIRT203592)
- hsa-miR-182-5p (MIRT203593)
- hsa-miR-1271-5p (MIRT203594)
- hsa-miR-548c-3p (MIRT298567)
- hsa-miR-6804-3p (MIRT298570)
- hsa-miR-19a-3p (MIRT298581)
- hsa-miR-19b-3p (MIRT298582)
- hsa-miR-23a-3p (MIRT399755)
- hsa-miR-23b-3p (MIRT399756)
- hsa-miR-130a-5p (MIRT399757)
- hsa-miR-23c (MIRT399761)
- hsa-miR-634 (MIRT549134)
- hsa-miR-3666 (MIRT549135)
- hsa-miR-130a-3p (MIRT549136)
- hsa-miR-301a-3p (MIRT549137)
- hsa-miR-454-3p (MIRT549138)
- hsa-miR-301b-3p (MIRT549139)
- hsa-miR-4295 (MIRT549140)
- hsa-miR-132-3p (MIRT549141)
- hsa-miR-212-3p (MIRT549142)
- hsa-miR-433-3p (MIRT549143)
- hsa-miR-4762-3p (MIRT705208)
- hsa-miR-3942-3p (MIRT705209)
- hsa-miR-215-5p (MIRT705210)
- hsa-miR-4256 (MIRT705211)
- hsa-miR-5100 (MIRT705212)
- hsa-miR-331-5p (MIRT705213)
- hsa-miR-542-3p (MIRT705214)
- hsa-miR-4504 (MIRT705215)
- hsa-miR-642b-3p (MIRT705216)
- hsa-miR-642a-3p (MIRT705217)
- hsa-miR-4750-3p (MIRT705218)
- hsa-miR-16-1-3p (MIRT705219)
- hsa-miR-892c-5p (MIRT705220)
- hsa-miR-4678 (MIRT705221)
- hsa-miR-593-5p (MIRT705222)
- hsa-miR-548v (MIRT705223)
- hsa-miR-187-5p (MIRT705224)
- hsa-miR-7157-3p (MIRT705225)
- hsa-miR-6737-3p (MIRT705226)
- hsa-miR-5008-3p (MIRT705227)
- hsa-miR-1283 (MIRT705228)
- hsa-miR-183-5p (MIRT705229)
- hsa-miR-222-3p (MIRT705230)
- hsa-miR-221-3p (MIRT705231)
- hsa-miR-146a-5p (MIRT737641)
- hsa-miR-146b-5p (MIRT737648)
- hsa-miR-2467-3p (MIRT739246)
- hsa-miR-31-3p (MIRT740178)
- hsa-miR-3678-3p (MIRT742159)
- hsa-miR-4261 (MIRT743473)
- hsa-miR-4463 (MIRT744870)
- hsa-miR-4494 (MIRT745325)
- hsa-miR-4712-3p (MIRT747451)
- hsa-miR-589-5p (MIRT751568)
- hsa-miR-7153-5p (MIRT759205)
- hsa-miR-759 (MIRT759409)
- hsa-miR-875-3p (MIRT760348)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BRWD1
- Browse OriGene Inhibitory RNA Products For BRWD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRWD1
Clone Products
- Applied Biological Materials (abm): Clones for BRWD1 - Select products 50% OFF >
- * BRWD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BRWD1
- Addgene plasmids for BRWD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BRWD1
Cell Line Products
-
Horizon Cell Lines for BRWD1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BRWD1 Gene
Localization for BRWD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BRWD1 Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Nucleoli (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for BRWD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | Cytokine Signaling in Immune system | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Interleukin-7 signaling | ||
Pathways by source for BRWD1 Gene
6 Reactome pathways for BRWD1 Gene
Interacting Proteins for BRWD1 Gene
Selected Interacting proteins:
Q9NSI6-BRWD1_HUMAN
ENSP00000330753
for BRWD1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BRWD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | TAS | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0007010 | cytoskeleton organization | IMP | 21834987 |
| GO:0008286 | insulin receptor signaling pathway | IEA | -- |
| GO:0008360 | regulation of cell shape | IMP | 21834987 |
No data available for SIGNOR curated interactions for BRWD1 Gene
Transcripts for BRWD1 Gene
mRNA/cDNA for BRWD1 Gene
- 3 REFSEQ mRNAs :
- 36 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000333229 10141 nts (view in UCSC)
- ENST00000446924 4990 nts (view in UCSC)
- ENST00000342449 12929 nts (view in UCSC)
- ENST00000380800 7605 nts (view in UCSC)
- ENST00000491564 522 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BRWD1 - Select products 50% OFF >
- * BRWD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BRWD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BRWD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BRWD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BRWD1
- Browse OriGene Inhibitory RNA Products For BRWD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRWD1
Clone Products
- Applied Biological Materials (abm): Clones for BRWD1 - Select products 50% OFF >
- * BRWD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BRWD1
- Addgene plasmids for BRWD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BRWD1
| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 23b | ^ | 24a | · | 24b | · | 24c | · | 24d | ^ | 25 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: | |||||||||||
| SP7: | |||||||||||
| SP8: | |||||||||||
| SP9: |
Relevant External Links for BRWD1 Gene
- GeneLoc Exon Structure for
- BRWD1
Expression for BRWD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Lower Urinary Tract (Urinary System)
- Kidney (Urinary System)
This gene is overexpressed in Synovial fluid (55.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRWD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BRWD1
SOURCE GeneReport for Unigene cluster for BRWD1 Gene:
Hs.654740mRNA Expression by UniProt/SwissProt for BRWD1 Gene:
Q9NSI6-BRWD1_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for BRWD1 Gene
- Heart(4.4)
- Nervous system(4.3)
- Pancreas(4.2)
Primer Products
-
OriGene qPCR primer pairs for BRWD1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRWD1 Gene
Orthologs for BRWD1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BRWD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BRWD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BRWD1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Brwd1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Brwd1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BRWD1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BRWD1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BRWD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BRWD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | brwd1 30 |
|
||
| Str.15115 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | brwd1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | BRWD3 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for BRWD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for BRWD1 Gene
- ENSEMBL:
- Gene Tree for BRWD1 (if available)
- TreeFam:
- Gene Tree for BRWD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BRWD1: view image
Paralogs for BRWD1 Gene
(5) SIMAP similar genes for BRWD1 Gene using alignment to 10 proteins:
- BRWD1_HUMAN
- A5PLN2_HUMAN
- H0Y463_HUMAN
- H0Y4A7_HUMAN
- H0Y4R9_HUMAN
- H0Y500_HUMAN
- H0Y5I9_HUMAN
- H7BZR9_HUMAN
- H7C409_HUMAN
- L8E8H4_HUMAN
Pseudogenes.org Pseudogenes for BRWD1 Gene
Variants for BRWD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRWD1 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1555862207 | Likely Benign: not specified | 39,250,901(-) | A/C | INTRON_VARIANT | |
| rs377313924 | Not Provided: not provided | 39,210,926(-) | G/A | MISSENSE_VARIANT | |
| rs918131106 | Uncertain Significance: Autistic disorder of childhood onset | 39,247,830(-) | C/T | SYNONYMOUS_VARIANT | |
| rs1041439 | - | p.Leu1699Pro | |||
| rs2056844 | - | p.Gln83Glu |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3451153 | CNV | insertion | 20981092 |
| esv3568192 | CNV | loss | 25503493 |
| nsv1072606 | CNV | deletion | 25765185 |
| nsv1122043 | CNV | deletion | 24896259 |
| nsv1123560 | CNV | deletion | 24896259 |
| nsv1136636 | CNV | deletion | 24896259 |
| nsv587480 | CNV | loss | 21841781 |
| nsv587481 | CNV | loss | 21841781 |
| nsv587482 | CNV | loss | 21841781 |
| nsv953626 | CNV | duplication | 24416366 |
| nsv956785 | CNV | deletion | 24416366 |
| nsv962678 | CNV | duplication | 23825009 |
| nsv964495 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
3.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.54;
96.49% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BRWD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRWD1 Gene
Disorders for BRWD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| down syndrome |
|
|
| chordoid meningioma |
|
|
| clear cell meningioma |
|
|
| meningioma, familial |
|
|
Search BRWD1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BRWD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for BRWD1 Gene
Publications for BRWD1 Gene
- Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. (PMID: 12359327) Ramos VC … Oliva R (Biochimica et biophysica acta 2002) 3 4 23
- Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. (PMID: 22365631) Greenwood TA … Kelsoe JR (Biological psychiatry 2012) 3 41
- Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease. (PMID: 20014019) Dubinsky MC … Rotter JI (Inflammatory bowel diseases 2010) 3 41
ExternalLinks
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Sources for BRWD1 Gene
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