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BPTF (bromodomain PHD finger transcription factor)

Identity

Alias_namesFALZ
fetal Alzheimer antigen
Alias_symbol (synonym)FAC1
NURF301
Other alias
HGNC (Hugo) BPTF
LocusID (NCBI) 2186
Atlas_Id 40526
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 65821780 and ends at 65980494 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BPTF (17q24.2) / ABCC3 (17q21.33)BPTF (17q24.2) / ARHGAP26 (5q31.3)BPTF (17q24.2) / BCAS3 (17q23.2)
BPTF (17q24.2) / BPTF (17q24.2)BPTF (17q24.2) / CCDC40 (17q25.3)BPTF (17q24.2) / EPB41L2 (6q23.1)
BPTF (17q24.2) / FAM117A (17q21.33)BPTF (17q24.2) / IL5RA (3p26.2)BPTF (17q24.2) / PIP4K2B (17q12)
BPTF (17q24.2) / PITPNC1 (17q24.2)BPTF (17q24.2) / RGS9 (17q24.1)BPTF (17q24.2) / SMG1 (16p12.3)
BPTF (17q24.2) / WTAP (6q25.3)GAK (4p16.3) / BPTF (17q24.2)IQCG (3q29) / BPTF (17q24.2)
PHF2 (9q22.31) / BPTF (17q24.2)BPTF 17q24.2 / ABCC3 17q21.33BPTF 17q24.2 / BCAS3 17q23.2
BPTF 17q24.2 / CCDC40 17q25.3BPTF 17q24.2 / FAM117A 17q21.33BPTF 17q24.2 / PIP4K2B 17q12
BPTF 17q24.2 / PITPNC1 17q24.2BPTF 17q24.2 / RGS9 17q24.1

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

 


External links

Nomenclature
HGNC (Hugo)BPTF   3581
Cards
Entrez_Gene (NCBI)BPTF  2186  bromodomain PHD finger transcription factor
AliasesFAC1; FALZ; NURF301
GeneCards (Weizmann)BPTF
Ensembl hg19 (Hinxton)ENSG00000171634 [Gene_View]  chr17:65821780-65980494 [Contig_View]  BPTF [Vega]
Ensembl hg38 (Hinxton)ENSG00000171634 [Gene_View]  chr17:65821780-65980494 [Contig_View]  BPTF [Vega]
ICGC DataPortalENSG00000171634
TCGA cBioPortalBPTF
AceView (NCBI)BPTF
Genatlas (Paris)BPTF
WikiGenes2186
SOURCE (Princeton)BPTF
Genetics Home Reference (NIH)BPTF
Genomic and cartography
GoldenPath hg19 (UCSC)BPTF  -     chr17:65821780-65980494 +  17q24.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BPTF  -     17q24.2   [Description]    (hg38-Dec_2013)
EnsemblBPTF - 17q24.2 [CytoView hg19]  BPTF - 17q24.2 [CytoView hg38]
Mapping of homologs : NCBIBPTF [Mapview hg19]  BPTF [Mapview hg38]
OMIM601819   
Gene and transcription
Genbank (Entrez)AB032251 AK022081 AK022570 AK025776 AK027184
RefSeq transcript (Entrez)NM_004459 NM_182641
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)BPTF
Cluster EST : UnigeneHs.444200 [ NCBI ]
CGAP (NCI)Hs.444200
Alternative Splicing GalleryENSG00000171634
Gene ExpressionBPTF [ NCBI-GEO ]   BPTF [ EBI - ARRAY_EXPRESS ]   BPTF [ SEEK ]   BPTF [ MEM ]
Gene Expression Viewer (FireBrowse)BPTF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2186
GTEX Portal (Tissue expression)BPTF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12830   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12830  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12830
Splice isoforms : SwissVarQ12830
PhosPhoSitePlusQ12830
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    DDT (PS50827)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)Bromodomain    Bromodomain_CS    DDT_dom    DDT_dom_subgr    DDT_dom_superfamily    WHIM1_dom    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Bromodomain (PF00439)    DDT (PF02791)    PHD (PF00628)    WHIM1 (PF15612)   
Domain families : Pfam (NCBI)pfam00439    pfam02791    pfam00628    pfam15612   
Domain families : Smart (EMBL)BROMO (SM00297)  DDT (SM00571)  PHD (SM00249)  
Conserved Domain (NCBI)BPTF
DMDM Disease mutations2186
Blocks (Seattle)BPTF
PDB (SRS)2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
PDB (PDBSum)2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
PDB (IMB)2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
PDB (RSDB)2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
Structural Biology KnowledgeBase2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
SCOP (Structural Classification of Proteins)2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
CATH (Classification of proteins structures)2F6J    2F6N    2FSA    2FUI    2FUU    2RI7    3QZS    3QZT    3QZV    3UV2   
SuperfamilyQ12830
Human Protein AtlasENSG00000171634
Peptide AtlasQ12830
HPRD03490
IPIIPI00785110   IPI00254408   IPI00376404   IPI00911006   IPI00384109   IPI01013558   IPI00024532   
Protein Interaction databases
DIP (DOE-UCLA)Q12830
IntAct (EBI)Q12830
FunCoupENSG00000171634
BioGRIDBPTF
STRING (EMBL)BPTF
ZODIACBPTF
Ontologies - Pathways
QuickGOQ12830
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  embryonic placenta development  protein binding  nucleus  nucleoplasm  cytoplasm  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  brain development  endoderm development  DNA-dependent ATPase activity  transcription factor binding  zinc ion binding  response to wounding  anterior/posterior pattern specification  NURF complex  dendrite  sequence-specific DNA binding  sequence-specific DNA binding  cell body  positive regulation of transcription, DNA-templated  perinuclear region of cytoplasm  extracellular exosome  cellular response to nerve growth factor stimulus  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  embryonic placenta development  protein binding  nucleus  nucleoplasm  cytoplasm  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  brain development  endoderm development  DNA-dependent ATPase activity  transcription factor binding  zinc ion binding  response to wounding  anterior/posterior pattern specification  NURF complex  dendrite  sequence-specific DNA binding  sequence-specific DNA binding  cell body  positive regulation of transcription, DNA-templated  perinuclear region of cytoplasm  extracellular exosome  cellular response to nerve growth factor stimulus  
NDEx NetworkBPTF
Atlas of Cancer Signalling NetworkBPTF
Wikipedia pathwaysBPTF
Orthology - Evolution
OrthoDB2186
GeneTree (enSembl)ENSG00000171634
Phylogenetic Trees/Animal Genes : TreeFamBPTF
HOVERGENQ12830
HOGENOMQ12830
Homologs : HomoloGeneBPTF
Homology/Alignments : Family Browser (UCSC)BPTF
Gene fusions - Rearrangements
Fusion : MitelmanBPTF/ABCC3 [17q24.2/17q21.33]  
Fusion : MitelmanBPTF/BCAS3 [17q24.2/17q23.2]  [t(17;17)(q23;q24)]  
Fusion : MitelmanBPTF/CCDC40 [17q24.2/17q25.3]  [t(17;17)(q24;q25)]  
Fusion : MitelmanBPTF/FAM117A [17q24.2/17q21.33]  [t(17;17)(q21;q24)]  
Fusion : MitelmanBPTF/PIP4K2B [17q24.2/17q12]  [t(17;17)(q12;q24)]  
Fusion : MitelmanBPTF/PITPNC1 [17q24.2/17q24.2]  [t(17;17)(q24;q24)]  
Fusion : MitelmanBPTF/RGS9 [17q24.2/17q24.1]  [t(17;17)(q24;q24)]  
Fusion: TCGABPTF 17q24.2 ABCC3 17q21.33 BRCA
Fusion: TCGABPTF 17q24.2 BCAS3 17q23.2 LUAD
Fusion: TCGABPTF 17q24.2 CCDC40 17q25.3 BRCA
Fusion: TCGABPTF 17q24.2 FAM117A 17q21.33 BRCA
Fusion: TCGABPTF 17q24.2 PIP4K2B 17q12 BRCA
Fusion: TCGABPTF 17q24.2 PITPNC1 17q24.2 BRCA
Fusion: TCGABPTF 17q24.2 RGS9 17q24.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBPTF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BPTF
dbVarBPTF
ClinVarBPTF
1000_GenomesBPTF 
Exome Variant ServerBPTF
ExAC (Exome Aggregation Consortium)BPTF (select the gene name)
Genetic variants : HAPMAP2186
Genomic Variants (DGV)BPTF [DGVbeta]
DECIPHER (Syndromes)17:65821780-65980494  ENSG00000171634
CONAN: Copy Number AnalysisBPTF 
Mutations
ICGC Data PortalBPTF 
TCGA Data PortalBPTF 
Broad Tumor PortalBPTF
OASIS PortalBPTF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBPTF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBPTF
intOGen PortalBPTF
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 BPTF
DgiDB (Drug Gene Interaction Database)BPTF
DoCM (Curated mutations)BPTF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BPTF (select a term)
intoGenBPTF
Cancer3DBPTF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601819   
Orphanet
MedgenBPTF
Genetic Testing Registry BPTF
NextProtQ12830 [Medical]
TSGene2186
GENETestsBPTF
Huge Navigator BPTF [HugePedia]
snp3D : Map Gene to Disease2186
BioCentury BCIQBPTF
ClinGenBPTF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2186
Chemical/Pharm GKB GenePA162377557
Clinical trialBPTF
Miscellaneous
canSAR (ICR)BPTF (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBPTF
EVEXBPTF
GoPubMedBPTF
iHOPBPTF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:54:10 CEST 2017

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