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CFP (complement factor properdin)

Identity

Alias_namesPFC
properdin P factor, complement
Other aliasBFD
PFD
PROPERDIN
HGNC (Hugo) CFP
LocusID (NCBI) 5199
Atlas_Id 61777
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 47624213 and ends at 47629970 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CFP (Xp11.23) / LOC154092 ()

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)CFP   8864
LRG (Locus Reference Genomic)LRG_129
Cards
Entrez_Gene (NCBI)CFP  5199  complement factor properdin
AliasesBFD; PFC; PFD; PROPERDIN
GeneCards (Weizmann)CFP
Ensembl hg19 (Hinxton)ENSG00000126759 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126759 [Gene_View]  chrX:47624213-47629970 [Contig_View]  CFP [Vega]
ICGC DataPortalENSG00000126759
TCGA cBioPortalCFP
AceView (NCBI)CFP
Genatlas (Paris)CFP
WikiGenes5199
SOURCE (Princeton)CFP
Genetics Home Reference (NIH)CFP
Genomic and cartography
GoldenPath hg38 (UCSC)CFP  -     chrX:47624213-47629970 -  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFP  -     Xp11.23   [Description]    (hg19-Feb_2009)
EnsemblCFP - Xp11.23 [CytoView hg19]  CFP - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBICFP [Mapview hg19]  CFP [Mapview hg38]
OMIM300383   312060   
Gene and transcription
Genbank (Entrez)AK122955 AK310695 BC015756 DB146591 DQ893460
RefSeq transcript (Entrez)NM_001145252 NM_002621
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFP
Cluster EST : UnigeneHs.53155 [ NCBI ]
CGAP (NCI)Hs.53155
Alternative Splicing GalleryENSG00000126759
Gene ExpressionCFP [ NCBI-GEO ]   CFP [ EBI - ARRAY_EXPRESS ]   CFP [ SEEK ]   CFP [ MEM ]
Gene Expression Viewer (FireBrowse)CFP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5199
GTEX Portal (Tissue expression)CFP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27918   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27918  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27918
Splice isoforms : SwissVarP27918
PhosPhoSitePlusP27918
Domaine pattern : Prosite (Expaxy)TSP1 (PS50092)   
Domains : Interpro (EBI)TSP1_rpt   
Domain families : Pfam (Sanger)TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
Conserved Domain (NCBI)CFP
DMDM Disease mutations5199
Blocks (Seattle)CFP
PDB (SRS)1W0R    1W0S   
PDB (PDBSum)1W0R    1W0S   
PDB (IMB)1W0R    1W0S   
PDB (RSDB)1W0R    1W0S   
Structural Biology KnowledgeBase1W0R    1W0S   
SCOP (Structural Classification of Proteins)1W0R    1W0S   
CATH (Classification of proteins structures)1W0R    1W0S   
SuperfamilyP27918
Human Protein AtlasENSG00000126759
Peptide AtlasP27918
HPRD02308
IPIIPI00021364   IPI00946489   IPI00945671   IPI00946166   
Protein Interaction databases
DIP (DOE-UCLA)P27918
IntAct (EBI)P27918
FunCoupENSG00000126759
BioGRIDCFP
STRING (EMBL)CFP
ZODIACCFP
Ontologies - Pathways
QuickGOP27918
Ontology : AmiGOextracellular region  extracellular space  endoplasmic reticulum lumen  immune response  complement activation  complement activation, alternative pathway  regulation of complement activation  extracellular matrix  specific granule lumen  protein O-linked fucosylation  defense response to bacterium  neutrophil degranulation  tertiary granule lumen  
Ontology : EGO-EBIextracellular region  extracellular space  endoplasmic reticulum lumen  immune response  complement activation  complement activation, alternative pathway  regulation of complement activation  extracellular matrix  specific granule lumen  protein O-linked fucosylation  defense response to bacterium  neutrophil degranulation  tertiary granule lumen  
Pathways : BIOCARTAAlternative Complement Pathway [Genes]   
Pathways : KEGGHerpes simplex infection   
NDEx NetworkCFP
Atlas of Cancer Signalling NetworkCFP
Wikipedia pathwaysCFP
Orthology - Evolution
OrthoDB5199
GeneTree (enSembl)ENSG00000126759
Phylogenetic Trees/Animal Genes : TreeFamCFP
HOVERGENP27918
HOGENOMP27918
Homologs : HomoloGeneCFP
Homology/Alignments : Family Browser (UCSC)CFP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFP
dbVarCFP
ClinVarCFP
1000_GenomesCFP 
Exome Variant ServerCFP
ExAC (Exome Aggregation Consortium)CFP (select the gene name)
Genetic variants : HAPMAP5199
Genomic Variants (DGV)CFP [DGVbeta]
DECIPHERCFP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFP 
Mutations
ICGC Data PortalCFP 
TCGA Data PortalCFP 
Broad Tumor PortalCFP
OASIS PortalCFP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CFP
DgiDB (Drug Gene Interaction Database)CFP
DoCM (Curated mutations)CFP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFP (select a term)
intoGenCFP
Cancer3DCFP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300383    312060   
Orphanet3615   
MedgenCFP
Genetic Testing Registry CFP
NextProtP27918 [Medical]
TSGene5199
GENETestsCFP
Target ValidationCFP
Huge Navigator CFP [HugePedia]
snp3D : Map Gene to Disease5199
BioCentury BCIQCFP
ClinGenCFP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5199
Chemical/Pharm GKB GenePA33206
Clinical trialCFP
Miscellaneous
canSAR (ICR)CFP (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFP
EVEXCFP
GoPubMedCFP
iHOPCFP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:43:30 CEST 2017

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