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PPFIBP1 (PPFIA binding protein 1)

Identity

Alias_namesPTPRF interacting protein
Alias_symbol (synonym)L2
hSGT2
hSgt2p
SGT2
Other alias
HGNC (Hugo) PPFIBP1
LocusID (NCBI) 8496
Atlas_Id 41798
Location 12p11.23  [Link to chromosome band 12p11]
Location_base_pair Starts at 27677045 and ends at 27848497 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HLA-E (6p21.33) / PPFIBP1 (12p11.23)MRPS35 (12p11.22) / PPFIBP1 (12p11.23)MYH7B (20q11.22) / PPFIBP1 (12p11.23)
PIK3C2G (12p12.3) / PPFIBP1 (12p11.23)PPFIBP1 (12p11.23) / AKAP13 (15q25.3)PPFIBP1 (12p11.23) / ALK (2p23.2)
PPFIBP1 (12p11.23) / PPFIBP1 (12p11.23)PPFIBP1 (12p11.23) / ROS1 (6q22.1)PPFIBP1 (12p11.23) / SMCO2 (12p11.23)
PPFIBP1 12p11.23 / ALK 2p23.2PPFIBP1 12p11.23 / ROS1 6q22.1MRPS35 12p11.22 / PPFIBP1 12p11.23
PIK3C2G 12p12.3 / PPFIBP1 12p11.23PPFIBP1 12p11.23 C12orf70

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Inflammatory myofibroblastic tumor
Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)PPFIBP1   9249
Cards
Entrez_Gene (NCBI)PPFIBP1  8496  PPFIA binding protein 1
AliasesL2; SGT2; hSGT2; hSgt2p
GeneCards (Weizmann)PPFIBP1
Ensembl hg19 (Hinxton)ENSG00000110841 [Gene_View]  chr12:27677045-27848497 [Contig_View]  PPFIBP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000110841 [Gene_View]  chr12:27677045-27848497 [Contig_View]  PPFIBP1 [Vega]
ICGC DataPortalENSG00000110841
TCGA cBioPortalPPFIBP1
AceView (NCBI)PPFIBP1
Genatlas (Paris)PPFIBP1
WikiGenes8496
SOURCE (Princeton)PPFIBP1
Genetics Home Reference (NIH)PPFIBP1
Genomic and cartography
GoldenPath hg19 (UCSC)PPFIBP1  -     chr12:27677045-27848497 +  12p11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PPFIBP1  -     12p11.23   [Description]    (hg38-Dec_2013)
EnsemblPPFIBP1 - 12p11.23 [CytoView hg19]  PPFIBP1 - 12p11.23 [CytoView hg38]
Mapping of homologs : NCBIPPFIBP1 [Mapview hg19]  PPFIBP1 [Mapview hg38]
OMIM603141   
Gene and transcription
Genbank (Entrez)AB033056 AB049149 AF034802 AJ276680 AK000807
RefSeq transcript (Entrez)NM_001198915 NM_001198916 NM_003622 NM_177444
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)PPFIBP1
Cluster EST : UnigeneHs.172445 [ NCBI ]
CGAP (NCI)Hs.172445
Alternative Splicing GalleryENSG00000110841
Gene ExpressionPPFIBP1 [ NCBI-GEO ]   PPFIBP1 [ EBI - ARRAY_EXPRESS ]   PPFIBP1 [ SEEK ]   PPFIBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPFIBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8496
GTEX Portal (Tissue expression)PPFIBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86W92   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86W92  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86W92
Splice isoforms : SwissVarQ86W92
PhosPhoSitePlusQ86W92
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)Liprin    PPFIBP1    SAM    SAM/pointed   
Domain families : Pfam (Sanger)SAM_1 (PF00536)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam00536    pfam07647   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)PPFIBP1
DMDM Disease mutations8496
Blocks (Seattle)PPFIBP1
SuperfamilyQ86W92
Human Protein AtlasENSG00000110841
Peptide AtlasQ86W92
HPRD04390
IPIIPI00397366   IPI00179172   IPI00397367   IPI00397368   IPI00302158   IPI01011233   IPI01012269   IPI00794935   IPI01015907   IPI00871384   IPI01013867   IPI01012359   IPI01012812   
Protein Interaction databases
DIP (DOE-UCLA)Q86W92
IntAct (EBI)Q86W92
FunCoupENSG00000110841
BioGRIDPPFIBP1
STRING (EMBL)PPFIBP1
ZODIACPPFIBP1
Ontologies - Pathways
QuickGOQ86W92
Ontology : AmiGOplasma membrane  focal adhesion  cell adhesion  
Ontology : EGO-EBIplasma membrane  focal adhesion  cell adhesion  
NDEx NetworkPPFIBP1
Atlas of Cancer Signalling NetworkPPFIBP1
Wikipedia pathwaysPPFIBP1
Orthology - Evolution
OrthoDB8496
GeneTree (enSembl)ENSG00000110841
Phylogenetic Trees/Animal Genes : TreeFamPPFIBP1
HOVERGENQ86W92
HOGENOMQ86W92
Homologs : HomoloGenePPFIBP1
Homology/Alignments : Family Browser (UCSC)PPFIBP1
Gene fusions - Rearrangements
Fusion : MitelmanMRPS35/PPFIBP1 [12p11.22/12p11.23]  [t(12;12)(p11;p11)]  
Fusion : MitelmanPIK3C2G/PPFIBP1 [12p12.3/12p11.23]  [t(12;12)(p11;p12)]  
Fusion : MitelmanPPFIBP1/ALK [12p11.23/2p23.2]  [t(2;12)(p23;p11)]  
Fusion : MitelmanPPFIBP1/SMCO2 [12p11.23/12p11.23]  [t(12;12)(p11;p11)]  
Fusion: TCGAMRPS35 12p11.22 PPFIBP1 12p11.23 BRCA
Fusion: TCGAPIK3C2G 12p12.3 PPFIBP1 12p11.23 BRCA
Fusion: TCGAPPFIBP1 12p11.23 C12orf70 BRCA OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPFIBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPFIBP1
dbVarPPFIBP1
ClinVarPPFIBP1
1000_GenomesPPFIBP1 
Exome Variant ServerPPFIBP1
ExAC (Exome Aggregation Consortium)PPFIBP1 (select the gene name)
Genetic variants : HAPMAP8496
Genomic Variants (DGV)PPFIBP1 [DGVbeta]
DECIPHER (Syndromes)12:27677045-27848497  ENSG00000110841
CONAN: Copy Number AnalysisPPFIBP1 
Mutations
ICGC Data PortalPPFIBP1 
TCGA Data PortalPPFIBP1 
Broad Tumor PortalPPFIBP1
OASIS PortalPPFIBP1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPPFIBP1 
Somatic Mutations in Cancer : COSMICPPFIBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPFIBP1
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 PPFIBP1
DgiDB (Drug Gene Interaction Database)PPFIBP1
DoCM (Curated mutations)PPFIBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPFIBP1 (select a term)
intoGenPPFIBP1
Cancer3DPPFIBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603141   
Orphanet
MedgenPPFIBP1
Genetic Testing Registry PPFIBP1
NextProtQ86W92 [Medical]
TSGene8496
GENETestsPPFIBP1
Huge Navigator PPFIBP1 [HugePedia]
snp3D : Map Gene to Disease8496
BioCentury BCIQPPFIBP1
ClinGenPPFIBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8496
Chemical/Pharm GKB GenePA33570
Clinical trialPPFIBP1
Miscellaneous
canSAR (ICR)PPFIBP1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPFIBP1
EVEXPPFIBP1
GoPubMedPPFIBP1
iHOPPPFIBP1
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 15:15:12 CEST 2017

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