Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PIK3IP1 (phosphoinositide-3-kinase interacting protein 1)

Identity

Alias_symbol (synonym)HGFL
MGC17330
Other aliashHGFL(S)
HGNC (Hugo) PIK3IP1
LocusID (NCBI) 113791
Atlas_Id 50366
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 31281593 and ends at 31292534 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)
FGA (4q31.3) / PIK3IP1 (22q12.2)HNRNPH1 (5q35.3) / PIK3IP1 (22q12.2)LINC00476 (9q22.32) / PIK3IP1 (22q12.2)
PIK3IP1 (22q12.2) / PIK3IP1 (22q12.2)

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)PIK3IP1   24942
Cards
Entrez_Gene (NCBI)PIK3IP1  113791  phosphoinositide-3-kinase interacting protein 1
AliasesHGFL; hHGFL(S)
GeneCards (Weizmann)PIK3IP1
Ensembl hg19 (Hinxton)ENSG00000100100 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100100 [Gene_View]  ENSG00000100100 [Sequence]  chr22:31281593-31292534 [Contig_View]  PIK3IP1 [Vega]
ICGC DataPortalENSG00000100100
TCGA cBioPortalPIK3IP1
AceView (NCBI)PIK3IP1
Genatlas (Paris)PIK3IP1
WikiGenes113791
SOURCE (Princeton)PIK3IP1
Genetics Home Reference (NIH)PIK3IP1
Genomic and cartography
GoldenPath hg38 (UCSC)PIK3IP1  -     chr22:31281593-31292534 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIK3IP1  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblPIK3IP1 - 22q12.2 [CytoView hg19]  PIK3IP1 - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBIPIK3IP1 [Mapview hg19]  PIK3IP1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF528079 AF528080 AK074688 AK093768 AK226089
RefSeq transcript (Entrez)NM_001135911 NM_052880
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIK3IP1
Cluster EST : UnigeneHs.26670 [ NCBI ]
CGAP (NCI)Hs.26670
Alternative Splicing GalleryENSG00000100100
Gene ExpressionPIK3IP1 [ NCBI-GEO ]   PIK3IP1 [ EBI - ARRAY_EXPRESS ]   PIK3IP1 [ SEEK ]   PIK3IP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PIK3IP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)113791
GTEX Portal (Tissue expression)PIK3IP1
Human Protein AtlasENSG00000100100-PIK3IP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96FE7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96FE7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96FE7
Splice isoforms : SwissVarQ96FE7
PhosPhoSitePlusQ96FE7
Domaine pattern : Prosite (Expaxy)KRINGLE_1 (PS00021)    KRINGLE_2 (PS50070)   
Domains : Interpro (EBI)Kringle    Kringle-like    Kringle_CS    Kringle_sf   
Domain families : Pfam (Sanger)Kringle (PF00051)   
Domain families : Pfam (NCBI)pfam00051   
Domain families : Smart (EMBL)KR (SM00130)  
Conserved Domain (NCBI)PIK3IP1
DMDM Disease mutations113791
Blocks (Seattle)PIK3IP1
SuperfamilyQ96FE7
Human Protein Atlas [tissue]ENSG00000100100-PIK3IP1 [tissue]
Peptide AtlasQ96FE7
HPRD17518
IPIIPI00298388   IPI00829813   IPI00829851   IPI01014371   IPI00893223   
Protein Interaction databases
DIP (DOE-UCLA)Q96FE7
IntAct (EBI)Q96FE7
FunCoupENSG00000100100
BioGRIDPIK3IP1
STRING (EMBL)PIK3IP1
ZODIACPIK3IP1
Ontologies - Pathways
QuickGOQ96FE7
Ontology : AmiGOprotein binding  plasma membrane  negative regulation of phosphatidylinositol 3-kinase signaling  integral component of membrane  phosphatidylinositol 3-kinase catalytic subunit binding  negative regulation of phosphatidylinositol 3-kinase activity  negative regulation of phosphatidylinositol 3-kinase activity  
Ontology : EGO-EBIprotein binding  plasma membrane  negative regulation of phosphatidylinositol 3-kinase signaling  integral component of membrane  phosphatidylinositol 3-kinase catalytic subunit binding  negative regulation of phosphatidylinositol 3-kinase activity  negative regulation of phosphatidylinositol 3-kinase activity  
NDEx NetworkPIK3IP1
Atlas of Cancer Signalling NetworkPIK3IP1
Wikipedia pathwaysPIK3IP1
Orthology - Evolution
OrthoDB113791
GeneTree (enSembl)ENSG00000100100
Phylogenetic Trees/Animal Genes : TreeFamPIK3IP1
HOGENOMQ96FE7
Homologs : HomoloGenePIK3IP1
Homology/Alignments : Family Browser (UCSC)PIK3IP1
Gene fusions - Rearrangements
Fusion : QuiverPIK3IP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIK3IP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIK3IP1
dbVarPIK3IP1
ClinVarPIK3IP1
1000_GenomesPIK3IP1 
Exome Variant ServerPIK3IP1
ExAC (Exome Aggregation Consortium)ENSG00000100100
GNOMAD BrowserENSG00000100100
Varsome BrowserPIK3IP1
Genetic variants : HAPMAP113791
Genomic Variants (DGV)PIK3IP1 [DGVbeta]
DECIPHERPIK3IP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIK3IP1 
Mutations
ICGC Data PortalPIK3IP1 
TCGA Data PortalPIK3IP1 
Broad Tumor PortalPIK3IP1
OASIS PortalPIK3IP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIK3IP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIK3IP1
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 PIK3IP1
DgiDB (Drug Gene Interaction Database)PIK3IP1
DoCM (Curated mutations)PIK3IP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIK3IP1 (select a term)
intoGenPIK3IP1
Cancer3DPIK3IP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPIK3IP1
MedgenPIK3IP1
Genetic Testing Registry PIK3IP1
NextProtQ96FE7 [Medical]
TSGene113791
GENETestsPIK3IP1
Target ValidationPIK3IP1
Huge Navigator PIK3IP1 [HugePedia]
snp3D : Map Gene to Disease113791
BioCentury BCIQPIK3IP1
ClinGenPIK3IP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD113791
Chemical/Pharm GKB GenePA162399553
Clinical trialPIK3IP1
Miscellaneous
canSAR (ICR)PIK3IP1 (select the gene name)
DataMed IndexPIK3IP1
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIK3IP1
EVEXPIK3IP1
GoPubMedPIK3IP1
iHOPPIK3IP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 16:49:47 CET 2019
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