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PIK3AP1 (phosphoinositide-3-kinase adaptor protein 1)

Identity

Alias (NCBI)BCAP
HGNC (Hugo) PIK3AP1
HGNC Alias symbBCAP
FLJ35564
LocusID (NCBI) 118788
Atlas_Id 54535
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 96593315 and ends at 96720514 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)
BLNK (10q24.1) / PIK3AP1 (10q24.1)CRCP (7q11.21) / PIK3AP1 (10q24.1)TM9SF3 (10q24.1) / PIK3AP1 (10q24.1)
BLNK 10q24.1 / PIK3AP1 10q24.1TM9SF3 10q24.1 / PIK3AP1 10q24.1

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;10)(q11;q24) CRCP/PIK3AP1


External links

 

Nomenclature
HGNC (Hugo)PIK3AP1   30034
Cards
Entrez_Gene (NCBI)PIK3AP1    phosphoinositide-3-kinase adaptor protein 1
AliasesBCAP
GeneCards (Weizmann)PIK3AP1
Ensembl hg19 (Hinxton)ENSG00000155629 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155629 [Gene_View]  ENSG00000155629 [Sequence]  chr10:96593315-96720514 [Contig_View]  PIK3AP1 [Vega]
ICGC DataPortalENSG00000155629
TCGA cBioPortalPIK3AP1
AceView (NCBI)PIK3AP1
Genatlas (Paris)PIK3AP1
SOURCE (Princeton)PIK3AP1
Genetics Home Reference (NIH)PIK3AP1
Genomic and cartography
GoldenPath hg38 (UCSC)PIK3AP1  -     chr10:96593315-96720514 -  10q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIK3AP1  -     10q24.1   [Description]    (hg19-Feb_2009)
GoldenPathPIK3AP1 - 10q24.1 [CytoView hg19]  PIK3AP1 - 10q24.1 [CytoView hg38]
ImmunoBaseENSG00000155629
Genome Data Viewer NCBIPIK3AP1 [Mapview hg19]  
OMIM607942   
Gene and transcription
Genbank (Entrez)AI826732 AK092883 AK122584 AK125635 BC029917
RefSeq transcript (Entrez)NM_152309
Consensus coding sequences : CCDS (NCBI)PIK3AP1
Gene ExpressionPIK3AP1 [ NCBI-GEO ]   PIK3AP1 [ EBI - ARRAY_EXPRESS ]   PIK3AP1 [ SEEK ]   PIK3AP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIK3AP1 [ Firebrowse - Broad ]
GenevisibleExpression of PIK3AP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)118788
GTEX Portal (Tissue expression)PIK3AP1
Human Protein AtlasENSG00000155629-PIK3AP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZUJ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZUJ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZUJ8
PhosPhoSitePlusQ6ZUJ8
Domaine pattern : Prosite (Expaxy)DBB (PS51376)    TIR (PS50104)   
Domains : Interpro (EBI)DBB_domain    PIK3AP1_TIR    Toll_tir_struct_dom_sf   
Domain families : Pfam (Sanger)DBB (PF14545)    TIR_3 (PF18567)   
Domain families : Pfam (NCBI)pfam14545    pfam18567   
Domain families : Smart (EMBL)DBB (SM01282)  
Conserved Domain (NCBI)PIK3AP1
PDB (RSDB)5FOR    6SWS   
PDB Europe5FOR    6SWS   
PDB (PDBSum)5FOR    6SWS   
PDB (IMB)5FOR    6SWS   
Structural Biology KnowledgeBase5FOR    6SWS   
SCOP (Structural Classification of Proteins)5FOR    6SWS   
CATH (Classification of proteins structures)5FOR    6SWS   
SuperfamilyQ6ZUJ8
AlphaFold pdb e-kbQ6ZUJ8   
Human Protein Atlas [tissue]ENSG00000155629-PIK3AP1 [tissue]
HPRD06401
Protein Interaction databases
DIP (DOE-UCLA)Q6ZUJ8
IntAct (EBI)Q6ZUJ8
BioGRIDPIK3AP1
STRING (EMBL)PIK3AP1
ZODIACPIK3AP1
Ontologies - Pathways
QuickGOQ6ZUJ8
Ontology : AmiGOsignaling receptor binding  protein binding  cytosol  cytosol  plasma membrane  positive regulation of phosphatidylinositol 3-kinase signaling  membrane  toll-like receptor 2 signaling pathway  toll-like receptor 4 signaling pathway  toll-like receptor 7 signaling pathway  toll-like receptor 9 signaling pathway  phosphatidylinositol 3-kinase regulatory subunit binding  phosphatidylinositol 3-kinase regulatory subunit binding  identical protein binding  regulation of inflammatory response  positive regulation of protein kinase B signaling  
Ontology : EGO-EBIsignaling receptor binding  protein binding  cytosol  cytosol  plasma membrane  positive regulation of phosphatidylinositol 3-kinase signaling  membrane  toll-like receptor 2 signaling pathway  toll-like receptor 4 signaling pathway  toll-like receptor 7 signaling pathway  toll-like receptor 9 signaling pathway  phosphatidylinositol 3-kinase regulatory subunit binding  phosphatidylinositol 3-kinase regulatory subunit binding  identical protein binding  regulation of inflammatory response  positive regulation of protein kinase B signaling  
Pathways : KEGGPI3K-Akt signaling pathway    B cell receptor signaling pathway   
NDEx NetworkPIK3AP1
Atlas of Cancer Signalling NetworkPIK3AP1
Wikipedia pathwaysPIK3AP1
Orthology - Evolution
OrthoDB118788
GeneTree (enSembl)ENSG00000155629
Phylogenetic Trees/Animal Genes : TreeFamPIK3AP1
Homologs : HomoloGenePIK3AP1
Homology/Alignments : Family Browser (UCSC)PIK3AP1
Gene fusions - Rearrangements
Fusion : MitelmanBLNK/PIK3AP1 [10q24.1/10q24.1]  
Fusion : MitelmanCRCP/PIK3AP1 [7q11.21/10q24.1]  
Fusion : MitelmanTM9SF3/PIK3AP1 [10q24.1/10q24.1]  
Fusion : QuiverPIK3AP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIK3AP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIK3AP1
dbVarPIK3AP1
ClinVarPIK3AP1
MonarchPIK3AP1
1000_GenomesPIK3AP1 
Exome Variant ServerPIK3AP1
GNOMAD BrowserENSG00000155629
Varsome BrowserPIK3AP1
ACMGPIK3AP1 variants
VarityQ6ZUJ8
Genomic Variants (DGV)PIK3AP1 [DGVbeta]
DECIPHERPIK3AP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIK3AP1 
Mutations
ICGC Data PortalPIK3AP1 
TCGA Data PortalPIK3AP1 
Broad Tumor PortalPIK3AP1
OASIS PortalPIK3AP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIK3AP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPIK3AP1
Mutations and Diseases : HGMDPIK3AP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPIK3AP1
DgiDB (Drug Gene Interaction Database)PIK3AP1
DoCM (Curated mutations)PIK3AP1
CIViC (Clinical Interpretations of Variants in Cancer)PIK3AP1
Cancer3DPIK3AP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607942   
Orphanet
DisGeNETPIK3AP1
MedgenPIK3AP1
Genetic Testing Registry PIK3AP1
NextProtQ6ZUJ8 [Medical]
GENETestsPIK3AP1
Target ValidationPIK3AP1
Huge Navigator PIK3AP1 [HugePedia]
ClinGenPIK3AP1
Clinical trials, drugs, therapy
MyCancerGenomePIK3AP1
Protein Interactions : CTDPIK3AP1
Pharm GKB GenePA134979629
PharosQ6ZUJ8
Clinical trialPIK3AP1
Miscellaneous
canSAR (ICR)PIK3AP1
HarmonizomePIK3AP1
DataMed IndexPIK3AP1
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPIK3AP1
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 : Mon Oct 4 15:25:19 CEST 2021

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