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F8 (coagulation factor VIII, procoagulant component)

Identity

Other namesAHF
DXS1253E
F8B
F8C
FVIII
HEMA
HGNC (Hugo) F8
LocusID (NCBI) 2157
Atlas_Id 45656
Location Xq28
Location_base_pair Starts at 154064064 and ends at 154250998 bp from pter ( according to hg19-Feb_2009)

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)F8   3546
Cards
Entrez_Gene (NCBI)F8  2157  coagulation factor VIII, procoagulant component
GeneCards (Weizmann)F8
Ensembl hg19 (Hinxton)ENSG00000185010 [Gene_View]  chrX:154064064-154250998 [Contig_View]  F8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000185010 [Gene_View]  chrX:154064064-154250998 [Contig_View]  F8 [Vega]
ICGC DataPortalENSG00000185010
TCGA cBioPortalF8
AceView (NCBI)F8
Genatlas (Paris)F8
WikiGenes2157
SOURCE (Princeton)F8
Genomic and cartography
GoldenPath hg19 (UCSC)F8  -     chrX:154064064-154250998 -  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)F8  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblF8 - Xq28 [CytoView hg19]  F8 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIF8 [Mapview hg19]  F8 [Mapview hg38]
OMIM300841   
Gene and transcription
Genbank (Entrez)AK289947 AK292902 AK295164 AK307726 AK313707
RefSeq transcript (Entrez)NM_000132 NM_019863
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_011403 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)F8
Cluster EST : UnigeneHs.654450 [ NCBI ]
CGAP (NCI)Hs.654450
Alternative Splicing : Fast-db (Paris)GSHG0032446
Alternative Splicing GalleryENSG00000185010
Gene ExpressionF8 [ NCBI-GEO ]     F8 [ SEEK ]   F8 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00451 (Uniprot)
NextProtP00451  [Medical]
With graphics : InterProP00451
Splice isoforms : SwissVarP00451 (Swissvar)
Domaine pattern : Prosite (Expaxy)FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)    MULTICOPPER_OXIDASE1 (PS00079)   
Domains : Interpro (EBI)Coagulation_fac_5/8-C_type_dom    Cu-oxidase    Cu-oxidase_2    Cu-oxidase_3    Cu_oxidase_Cu_BS    Cupredoxin    Factor_5/8    Factor_8    Galactose-bd-like   
Related proteins : CluSTrP00451
Domain families : Pfam (Sanger)Cu-oxidase (PF00394)    Cu-oxidase_2 (PF07731)    Cu-oxidase_3 (PF07732)    F5_F8_type_C (PF00754)   
Domain families : Pfam (NCBI)pfam00394    pfam07731    pfam07732    pfam00754   
Domain families : Smart (EMBL)FA58C (SM00231)  
DMDM Disease mutations2157
Blocks (Seattle)P00451
PDB (SRS)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
PDB (PDBSum)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
PDB (IMB)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
PDB (RSDB)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5   
Human Protein AtlasENSG00000185010
Peptide AtlasP00451
HPRD02384
IPIIPI00017603   IPI00930595   IPI00969422   IPI00930468   IPI00657892   IPI00852817   IPI00925597   
Protein Interaction databases
DIP (DOE-UCLA)P00451
IntAct (EBI)P00451
FunCoupENSG00000185010
BioGRIDF8
IntegromeDBF8
STRING (EMBL)F8
Ontologies - Pathways
QuickGOP00451
Ontology : AmiGOplatelet degranulation  serine-type endopeptidase activity  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  plasma membrane  proteolysis  acute-phase response  blood coagulation  blood coagulation, intrinsic pathway  oxidoreductase activity  platelet activation  platelet alpha granule lumen  oxidation-reduction process  
Ontology : EGO-EBIplatelet degranulation  serine-type endopeptidase activity  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  plasma membrane  proteolysis  acute-phase response  blood coagulation  blood coagulation, intrinsic pathway  oxidoreductase activity  platelet activation  platelet alpha granule lumen  oxidation-reduction process  
Pathways : BIOCARTAIntrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
Protein Interaction DatabaseF8
DoCM (Curated mutations)F8
Wikipedia pathwaysF8
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerF8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)F8
dbVarF8
ClinVarF8
1000_GenomesF8 
Exome Variant ServerF8
SNP (GeneSNP Utah)F8
SNP : HGBaseF8
Genetic variants : HAPMAPF8
Genomic Variants (DGV)F8 [DGVbeta]
Mutations
ICGC Data PortalF8 
TCGA Data PortalF8 
Tumor PortalF8
Somatic Mutations in Cancer : COSMICF8 
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)EAHAD Coagulation Factor Variant Databases
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:154064064-154250998
CONAN: Copy Number AnalysisF8 
Mutations and Diseases : HGMDF8
OMIM300841   
MedgenF8
NextProtP00451 [Medical]
GENETestsF8
Disease Genetic AssociationF8
Huge Navigator F8 [HugePedia]  F8 [HugeCancerGEM]
snp3D : Map Gene to Disease2157
DGIdb (Drug Gene Interaction db)F8
General knowledge
Homologs : HomoloGeneF8
Homology/Alignments : Family Browser (UCSC)F8
Phylogenetic Trees/Animal Genes : TreeFamF8
Chemical/Protein Interactions : CTD2157
Chemical/Pharm GKB GenePA27952
Clinical trialF8
Cancer Resource (Charite)ENSG00000185010
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineF8
GoPubMedF8
iHOPF8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:14:49 CEST 2015

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