Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BAZ2A (bromodomain adjacent to zinc finger domain 2A)

Identity

Alias_symbol (synonym)KIAA0314
TIP5
WALp3
Other alias
HGNC (Hugo) BAZ2A
LocusID (NCBI) 11176
Atlas_Id 53416
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 56989380 and ends at 57024115 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BAZ2A (12q13.3) / ACVR1B (12q13.13)BAZ2A (12q13.3) / BAZ2A (12q13.3)BAZ2A (12q13.3) / BIN2 (12q13.13)
BAZ2A (12q13.3) / CKAP5 (11p11.2)BAZ2A (12q13.3) / CSDE1 (1p13.2)BAZ2A (12q13.3) / ERGIC3 (20q11.22)
BAZ2A (12q13.3) / PRIM1 (12q13.3)BAZ2A (12q13.3) / TBC1D12 (10q23.33)ETV6 (12p13.2) / BAZ2A (12q13.3)
RBM6 (3p21.31) / BAZ2A (12q13.3)SNAP23 (15q15.1) / BAZ2A (12q13.3)TM4SF19 (3q29) / BAZ2A (12q13.3)
UBR5 (8q22.3) / BAZ2A (12q13.3)BAZ2A 12q13.3 / ACVR1B 12q13.13BAZ2A 12q13.3 / BIN2 12q13.13
BAZ2A 12q13.3 / PRIM1 12q13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;12)(p13;q13) ETV6/BAZ2A


External links

Nomenclature
HGNC (Hugo)BAZ2A   962
Cards
Entrez_Gene (NCBI)BAZ2A  11176  bromodomain adjacent to zinc finger domain 2A
AliasesTIP5; WALp3
GeneCards (Weizmann)BAZ2A
Ensembl hg19 (Hinxton)ENSG00000076108 [Gene_View]  chr12:56989380-57024115 [Contig_View]  BAZ2A [Vega]
Ensembl hg38 (Hinxton)ENSG00000076108 [Gene_View]  chr12:56989380-57024115 [Contig_View]  BAZ2A [Vega]
ICGC DataPortalENSG00000076108
TCGA cBioPortalBAZ2A
AceView (NCBI)BAZ2A
Genatlas (Paris)BAZ2A
WikiGenes11176
SOURCE (Princeton)BAZ2A
Genetics Home Reference (NIH)BAZ2A
Genomic and cartography
GoldenPath hg19 (UCSC)BAZ2A  -     chr12:56989380-57024115 -  12q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BAZ2A  -     12q13.3   [Description]    (hg38-Dec_2013)
EnsemblBAZ2A - 12q13.3 [CytoView hg19]  BAZ2A - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIBAZ2A [Mapview hg19]  BAZ2A [Mapview hg38]
OMIM605682   
Gene and transcription
Genbank (Entrez)AB002312 AF000422 AK023830 AK023842 AK127775
RefSeq transcript (Entrez)NM_001300905 NM_013449
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)BAZ2A
Cluster EST : UnigeneHs.314263 [ NCBI ]
CGAP (NCI)Hs.314263
Alternative Splicing GalleryENSG00000076108
Gene ExpressionBAZ2A [ NCBI-GEO ]   BAZ2A [ EBI - ARRAY_EXPRESS ]   BAZ2A [ SEEK ]   BAZ2A [ MEM ]
Gene Expression Viewer (FireBrowse)BAZ2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11176
GTEX Portal (Tissue expression)BAZ2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UIF9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UIF9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UIF9
Splice isoforms : SwissVarQ9UIF9
PhosPhoSitePlusQ9UIF9
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    DDT (PS50827)    MBD (PS50982)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)AT_hook_DNA-bd_motif    Bromodomain    Bromodomain_CS    DDT_dom    DDT_dom_subgr    DDT_dom_superfamily    DNA-bd_dom    Methyl_CpG_DNA-bd    TIP5    WHIM1_dom    WHIM3_domain    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Bromodomain (PF00439)    DDT (PF02791)    MBD (PF01429)    PHD (PF00628)    WHIM1 (PF15612)    WHIM3 (PF15614)   
Domain families : Pfam (NCBI)pfam00439    pfam02791    pfam01429    pfam00628    pfam15612    pfam15614   
Domain families : Smart (EMBL)AT_hook (SM00384)  BROMO (SM00297)  DDT (SM00571)  MBD (SM00391)  PHD (SM00249)  
Conserved Domain (NCBI)BAZ2A
DMDM Disease mutations11176
Blocks (Seattle)BAZ2A
PDB (SRS)4LZ2    4Q6F    4QBM    4QF2    5AGQ   
PDB (PDBSum)4LZ2    4Q6F    4QBM    4QF2    5AGQ   
PDB (IMB)4LZ2    4Q6F    4QBM    4QF2    5AGQ   
PDB (RSDB)4LZ2    4Q6F    4QBM    4QF2    5AGQ   
Structural Biology KnowledgeBase4LZ2    4Q6F    4QBM    4QF2    5AGQ   
SCOP (Structural Classification of Proteins)4LZ2    4Q6F    4QBM    4QF2    5AGQ   
CATH (Classification of proteins structures)4LZ2    4Q6F    4QBM    4QF2    5AGQ   
SuperfamilyQ9UIF9
Human Protein AtlasENSG00000076108
Peptide AtlasQ9UIF9
HPRD10417
IPIIPI00296388   IPI00943770   IPI00794774   IPI01020750   IPI01022697   IPI01021690   IPI01020928   IPI00759742   IPI01021196   IPI01022180   IPI01011513   
Protein Interaction databases
DIP (DOE-UCLA)Q9UIF9
IntAct (EBI)Q9UIF9
FunCoupENSG00000076108
BioGRIDBAZ2A
STRING (EMBL)BAZ2A
ZODIACBAZ2A
Ontologies - Pathways
QuickGOQ9UIF9
Ontology : AmiGOchromatin silencing at rDNA  RNA polymerase I CORE element sequence-specific DNA binding  RNA binding  protein binding  nucleoplasm  chromatin silencing complex  nucleolus  cytoplasm  DNA methylation  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  histone deacetylation  ligand-dependent nuclear receptor binding  rDNA heterochromatin  histone binding  lysine-acetylated histone binding  
Ontology : EGO-EBIchromatin silencing at rDNA  RNA polymerase I CORE element sequence-specific DNA binding  RNA binding  protein binding  nucleoplasm  chromatin silencing complex  nucleolus  cytoplasm  DNA methylation  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  zinc ion binding  histone deacetylation  ligand-dependent nuclear receptor binding  rDNA heterochromatin  histone binding  lysine-acetylated histone binding  
NDEx NetworkBAZ2A
Atlas of Cancer Signalling NetworkBAZ2A
Wikipedia pathwaysBAZ2A
Orthology - Evolution
OrthoDB11176
GeneTree (enSembl)ENSG00000076108
Phylogenetic Trees/Animal Genes : TreeFamBAZ2A
HOVERGENQ9UIF9
HOGENOMQ9UIF9
Homologs : HomoloGeneBAZ2A
Homology/Alignments : Family Browser (UCSC)BAZ2A
Gene fusions - Rearrangements
Fusion : MitelmanBAZ2A/ACVR1B [12q13.3/12q13.13]  
Fusion : MitelmanBAZ2A/BIN2 [12q13.3/12q13.13]  [t(12;12)(q13;q13)]  
Fusion : MitelmanBAZ2A/PRIM1 [12q13.3/12q13.3]  [t(12;12)(q13;q13)]  
Fusion : MitelmanETV6/BAZ2A [12p13.2/12q13.3]  [t(12;12)(p13;q13)]  
Fusion: TCGABAZ2A 12q13.3 ACVR1B 12q13.13 LUAD
Fusion: TCGABAZ2A 12q13.3 BIN2 12q13.13 LUAD
Fusion: TCGABAZ2A 12q13.3 PRIM1 12q13.3 BLCA BRCA LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBAZ2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BAZ2A
dbVarBAZ2A
ClinVarBAZ2A
1000_GenomesBAZ2A 
Exome Variant ServerBAZ2A
ExAC (Exome Aggregation Consortium)BAZ2A (select the gene name)
Genetic variants : HAPMAP11176
Genomic Variants (DGV)BAZ2A [DGVbeta]
DECIPHER (Syndromes)12:56989380-57024115  ENSG00000076108
CONAN: Copy Number AnalysisBAZ2A 
Mutations
ICGC Data PortalBAZ2A 
TCGA Data PortalBAZ2A 
Broad Tumor PortalBAZ2A
OASIS PortalBAZ2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBAZ2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBAZ2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BAZ2A
DgiDB (Drug Gene Interaction Database)BAZ2A
DoCM (Curated mutations)BAZ2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BAZ2A (select a term)
intoGenBAZ2A
Cancer3DBAZ2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605682   
Orphanet
MedgenBAZ2A
Genetic Testing Registry BAZ2A
NextProtQ9UIF9 [Medical]
TSGene11176
GENETestsBAZ2A
Huge Navigator BAZ2A [HugePedia]
snp3D : Map Gene to Disease11176
BioCentury BCIQBAZ2A
ClinGenBAZ2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11176
Chemical/Pharm GKB GenePA25272
Clinical trialBAZ2A
Miscellaneous
canSAR (ICR)BAZ2A (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBAZ2A
EVEXBAZ2A
GoPubMedBAZ2A
iHOPBAZ2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:53:46 CEST 2017

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