Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SERPINF1 (serpin family F member 1)

Identity

Alias_namesPEDF
serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
sserpin family F member 1
Alias_symbol (synonym)EPC-1
PIG35
Other aliasOI12
OI6
HGNC (Hugo) SERPINF1
LocusID (NCBI) 5176
Atlas_Id 42268
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1761925 and ends at 1777574 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)
SERPINF1 (17p13.3) / PSMB8 (6p21.32)SERPINF1 (17p13.3) / SERPINF1 (17p13.3)SERPINF1 (17p13.3) / WDR1 (4p16.1)
SERPINF1 (17p13.3) / YWHAG (7q11.23)TRBV20-1 () / SERPINF1 (17p13.3)

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)SERPINF1   8824
Cards
Entrez_Gene (NCBI)SERPINF1  5176  serpin family F member 1
AliasesEPC-1; OI12; OI6; PEDF; 
PIG35
GeneCards (Weizmann)SERPINF1
Ensembl hg19 (Hinxton)ENSG00000132386 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132386 [Gene_View]  ENSG00000132386 [Sequence]  chr17:1761925-1777574 [Contig_View]  SERPINF1 [Vega]
ICGC DataPortalENSG00000132386
TCGA cBioPortalSERPINF1
AceView (NCBI)SERPINF1
Genatlas (Paris)SERPINF1
WikiGenes5176
SOURCE (Princeton)SERPINF1
Genetics Home Reference (NIH)SERPINF1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINF1  -     chr17:1761925-1777574 +  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINF1  -     17p13.3   [Description]    (hg19-Feb_2009)
SERPINF1 - 17p13.3 [CytoView hg19]  SERPINF1 - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBISERPINF1 [Mapview hg19]  SERPINF1 [Mapview hg38]
OMIM172860   613982   
Gene and transcription
Genbank (Entrez)AA351026 AA658568 AB593011 AB593012 AB593013
RefSeq transcript (Entrez)NM_001329903 NM_001329904 NM_001329905 NM_002615
RefSeq genomic (Entrez)NC_000017 NG_028180 NT_187611
Consensus coding sequences : CCDS (NCBI)SERPINF1
Cluster EST : UnigeneHs.532768 [ NCBI ]
CGAP (NCI)Hs.532768
Alternative Splicing GalleryENSG00000132386
Gene ExpressionSERPINF1 [ NCBI-GEO ]   SERPINF1 [ EBI - ARRAY_EXPRESS ]   SERPINF1 [ SEEK ]   SERPINF1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5176
GTEX Portal (Tissue expression)SERPINF1
Human Protein AtlasENSG00000132386-SERPINF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36955   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36955  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36955
Splice isoforms : SwissVarP36955
PhosPhoSitePlusP36955
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)PEDF    Serpin_CS    Serpin_dom    Serpin_fam    Serpin_sf   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPINF1
DMDM Disease mutations5176
Blocks (Seattle)SERPINF1
PDB (RSDB)1IMV   
PDB Europe1IMV   
PDB (PDBSum)1IMV   
PDB (IMB)1IMV   
Structural Biology KnowledgeBase1IMV   
SCOP (Structural Classification of Proteins)1IMV   
CATH (Classification of proteins structures)1IMV   
SuperfamilyP36955
Human Protein Atlas [tissue]ENSG00000132386-SERPINF1 [tissue]
Peptide AtlasP36955
HPRD01408
IPIIPI00006114   
Protein Interaction databases
DIP (DOE-UCLA)P36955
IntAct (EBI)P36955
FunCoupENSG00000132386
BioGRIDSERPINF1
STRING (EMBL)SERPINF1
ZODIACSERPINF1
Ontologies - Pathways
QuickGOP36955
Ontology : AmiGOkidney development  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  basement membrane  extracellular space  extracellular space  multicellular organism development  aging  short-term memory  cell proliferation  response to acidic pH  negative regulation of endothelial cell migration  negative regulation of gene expression  negative regulation of endopeptidase activity  positive regulation of neuron projection development  negative regulation of angiogenesis  melanosome  ovulation cycle  axon hillock  response to arsenic-containing substance  perinuclear region of cytoplasm  negative regulation of inflammatory response  positive regulation of neurogenesis  retina development in camera-type eye  negative regulation of epithelial cell proliferation involved in prostate gland development  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  cellular response to cobalt ion  cellular response to retinoic acid  cellular response to glucose stimulus  cellular response to dexamethasone stimulus  negative regulation of neuron death  
Ontology : EGO-EBIkidney development  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  basement membrane  extracellular space  extracellular space  multicellular organism development  aging  short-term memory  cell proliferation  response to acidic pH  negative regulation of endothelial cell migration  negative regulation of gene expression  negative regulation of endopeptidase activity  positive regulation of neuron projection development  negative regulation of angiogenesis  melanosome  ovulation cycle  axon hillock  response to arsenic-containing substance  perinuclear region of cytoplasm  negative regulation of inflammatory response  positive regulation of neurogenesis  retina development in camera-type eye  negative regulation of epithelial cell proliferation involved in prostate gland development  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  cellular response to cobalt ion  cellular response to retinoic acid  cellular response to glucose stimulus  cellular response to dexamethasone stimulus  negative regulation of neuron death  
NDEx NetworkSERPINF1
Atlas of Cancer Signalling NetworkSERPINF1
Wikipedia pathwaysSERPINF1
Orthology - Evolution
OrthoDB5176
GeneTree (enSembl)ENSG00000132386
Phylogenetic Trees/Animal Genes : TreeFamSERPINF1
HOGENOMP36955
Homologs : HomoloGeneSERPINF1
Homology/Alignments : Family Browser (UCSC)SERPINF1
Gene fusions - Rearrangements
Fusion : QuiverSERPINF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPINF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINF1
dbVarSERPINF1
ClinVarSERPINF1
1000_GenomesSERPINF1 
Exome Variant ServerSERPINF1
ExAC (Exome Aggregation Consortium)ENSG00000132386
GNOMAD BrowserENSG00000132386
Varsome BrowserSERPINF1
Genetic variants : HAPMAP5176
Genomic Variants (DGV)SERPINF1 [DGVbeta]
DECIPHERSERPINF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPINF1 
Mutations
ICGC Data PortalSERPINF1 
TCGA Data PortalSERPINF1 
Broad Tumor PortalSERPINF1
OASIS PortalSERPINF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSERPINF1
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
LOVD (Leiden Open Variation Database)Osteogenesis Imperfecta Variant Database
BioMutasearch SERPINF1
DgiDB (Drug Gene Interaction Database)SERPINF1
DoCM (Curated mutations)SERPINF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPINF1 (select a term)
intoGenSERPINF1
Cancer3DSERPINF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172860    613982   
Orphanet18793    18794   
DisGeNETSERPINF1
MedgenSERPINF1
Genetic Testing Registry SERPINF1
NextProtP36955 [Medical]
TSGene5176
GENETestsSERPINF1
Target ValidationSERPINF1
Huge Navigator SERPINF1 [HugePedia]
snp3D : Map Gene to Disease5176
BioCentury BCIQSERPINF1
ClinGenSERPINF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5176
Chemical/Pharm GKB GenePA35508
Clinical trialSERPINF1
Miscellaneous
canSAR (ICR)SERPINF1 (select the gene name)
DataMed IndexSERPINF1
Probes
Litterature
PubMed294 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPINF1
EVEXSERPINF1
GoPubMedSERPINF1
iHOPSERPINF1
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 : Thu Mar 21 16:08:19 CET 2019
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