Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BPIFB1 (BPI fold containing family B member 1)

Identity

Alias_namesC20orf114
chromosome 20 open reading frame 114
Alias_symbol (synonym)dJ1187J4.1
MGC14597
bA49G10.6
LPLUNC1
VEMSGP
Other alias
HGNC (Hugo) BPIFB1
LocusID (NCBI) 92747
Atlas_Id 52308
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 33283135 and ends at 33309878 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BPIFB1 (20q11.21) / AGAP1 (2q37.2)BPIFB1 (20q11.21) / SNAPC5 (15q22.31)CTSD (11p15.5) / BPIFB1 (20q11.21)
FRMD6 (14q22.1) / BPIFB1 (20q11.21)PLCG1 (20q12) / BPIFB1 (20q11.21)BPIFB1 20q11.21 / SNAPC5 15q22.31
FRMD6 14q22.1 / BPIFB1 20q11.21PLCG1 20q12 / BPIFB1 20q11.21

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)BPIFB1   16108
Cards
Entrez_Gene (NCBI)BPIFB1  92747  BPI fold containing family B member 1
AliasesC20orf114; LPLUNC1
GeneCards (Weizmann)BPIFB1
Ensembl hg19 (Hinxton)ENSG00000125999 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125999 [Gene_View]  chr20:33283135-33309878 [Contig_View]  BPIFB1 [Vega]
ICGC DataPortalENSG00000125999
TCGA cBioPortalBPIFB1
AceView (NCBI)BPIFB1
Genatlas (Paris)BPIFB1
WikiGenes92747
SOURCE (Princeton)BPIFB1
Genetics Home Reference (NIH)BPIFB1
Genomic and cartography
GoldenPath hg38 (UCSC)BPIFB1  -     chr20:33283135-33309878 +  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BPIFB1  -     20q11.21   [Description]    (hg19-Feb_2009)
EnsemblBPIFB1 - 20q11.21 [CytoView hg19]  BPIFB1 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBIBPIFB1 [Mapview hg19]  BPIFB1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF364078 AK127971 AK290243 AK310964 AK313176
RefSeq transcript (Entrez)NM_033197
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BPIFB1
Cluster EST : UnigeneHs.65551 [ NCBI ]
CGAP (NCI)Hs.65551
Alternative Splicing GalleryENSG00000125999
Gene ExpressionBPIFB1 [ NCBI-GEO ]   BPIFB1 [ EBI - ARRAY_EXPRESS ]   BPIFB1 [ SEEK ]   BPIFB1 [ MEM ]
Gene Expression Viewer (FireBrowse)BPIFB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92747
GTEX Portal (Tissue expression)BPIFB1
Human Protein AtlasENSG00000125999-BPIFB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDL5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDL5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDL5
Splice isoforms : SwissVarQ8TDL5
PhosPhoSitePlusQ8TDL5
Domains : Interpro (EBI)Bactericidal_perm-incr_a/b_dom    BPI/LBP/Plunc    Bpifb1    Lipid-bd_serum_glycop_C    Lipid-bd_serum_glycop_N   
Domain families : Pfam (Sanger)LBP_BPI_CETP (PF01273)    LBP_BPI_CETP_C (PF02886)   
Domain families : Pfam (NCBI)pfam01273    pfam02886   
Domain families : Smart (EMBL)BPI1 (SM00328)  
Conserved Domain (NCBI)BPIFB1
DMDM Disease mutations92747
Blocks (Seattle)BPIFB1
SuperfamilyQ8TDL5
Human Protein Atlas [tissue]ENSG00000125999-BPIFB1 [tissue]
Peptide AtlasQ8TDL5
HPRD12740
IPIIPI00291410   IPI00444116   IPI00953019   IPI00791308   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDL5
IntAct (EBI)Q8TDL5
FunCoupENSG00000125999
BioGRIDBPIFB1
STRING (EMBL)BPIFB1
ZODIACBPIFB1
Ontologies - Pathways
QuickGOQ8TDL5
Ontology : AmiGOinnate immune response in mucosa  molecular_function  extracellular region  extracellular region  extracellular space  lipid binding  antimicrobial humoral response  negative regulation of toll-like receptor 4 signaling pathway  extracellular exosome  
Ontology : EGO-EBIinnate immune response in mucosa  molecular_function  extracellular region  extracellular region  extracellular space  lipid binding  antimicrobial humoral response  negative regulation of toll-like receptor 4 signaling pathway  extracellular exosome  
NDEx NetworkBPIFB1
Atlas of Cancer Signalling NetworkBPIFB1
Wikipedia pathwaysBPIFB1
Orthology - Evolution
OrthoDB92747
GeneTree (enSembl)ENSG00000125999
Phylogenetic Trees/Animal Genes : TreeFamBPIFB1
HOVERGENQ8TDL5
HOGENOMQ8TDL5
Homologs : HomoloGeneBPIFB1
Homology/Alignments : Family Browser (UCSC)BPIFB1
Gene fusions - Rearrangements
Fusion : MitelmanBPIFB1/SNAPC5 [20q11.21/15q22.31]  
Fusion : MitelmanFRMD6/BPIFB1 [14q22.1/20q11.21]  [t(14;20)(q22;q11)]  
Fusion : MitelmanPLCG1/BPIFB1 [20q12/20q11.21]  [t(20;20)(q11;q12)]  
Fusion: TCGA_MDACCBPIFB1 20q11.21 SNAPC5 15q22.31 BRCA
Fusion: TCGA_MDACCFRMD6 14q22.1 BPIFB1 20q11.21 HNSC
Fusion: TCGA_MDACCPLCG1 20q12 BPIFB1 20q11.21 BRCA
Tumor Fusion PortalBPIFB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBPIFB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BPIFB1
dbVarBPIFB1
ClinVarBPIFB1
1000_GenomesBPIFB1 
Exome Variant ServerBPIFB1
ExAC (Exome Aggregation Consortium)ENSG00000125999
GNOMAD BrowserENSG00000125999
Genetic variants : HAPMAP92747
Genomic Variants (DGV)BPIFB1 [DGVbeta]
DECIPHERBPIFB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBPIFB1 
Mutations
ICGC Data PortalBPIFB1 
TCGA Data PortalBPIFB1 
Broad Tumor PortalBPIFB1
OASIS PortalBPIFB1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBPIFB1
BioMutasearch BPIFB1
DgiDB (Drug Gene Interaction Database)BPIFB1
DoCM (Curated mutations)BPIFB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BPIFB1 (select a term)
intoGenBPIFB1
Cancer3DBPIFB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETBPIFB1
MedgenBPIFB1
Genetic Testing Registry BPIFB1
NextProtQ8TDL5 [Medical]
TSGene92747
GENETestsBPIFB1
Target ValidationBPIFB1
Huge Navigator BPIFB1 [HugePedia]
snp3D : Map Gene to Disease92747
BioCentury BCIQBPIFB1
ClinGenBPIFB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92747
Chemical/Pharm GKB GenePA25654
Clinical trialBPIFB1
Miscellaneous
canSAR (ICR)BPIFB1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBPIFB1
EVEXBPIFB1
GoPubMedBPIFB1
iHOPBPIFB1
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 : Tue Nov 21 14:05:03 CET 2017

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