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F8 (coagulation factor VIII)

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)
Fusion genes
(updated 2016)
DIAPH2 (Xq21.33) / F8 (Xq28)G6PD (Xq28) / F8 (Xq28)MECP2 (Xq28) / F8 (Xq28)
DIAPH2 Xq21.33 / F8 Xq28G6PD Xq28 / F8 Xq28

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
AliasesAHF; DXS1253E; F8B; F8C; 
FVIII; HEMA
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]
OMIM134500   300841   306700   
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 GalleryENSG00000185010
Gene ExpressionF8 [ NCBI-GEO ]   F8 [ EBI - ARRAY_EXPRESS ]   F8 [ SEEK ]   F8 [ MEM ]
Gene Expression Viewer (FireBrowse)F8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2157
GTEX Portal (Tissue expression)F8
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00451 (Uniprot)
NextProtP00451  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00451
Splice isoforms : SwissVarP00451 (Swissvar)
PhosPhoSitePlusP00451
Domaine pattern : Prosite (Expaxy)FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)    MULTICOPPER_OXIDASE1 (PS00079)   
Domains : Interpro (EBI)Cu-oxidase    Cu-oxidase_2    Cu-oxidase_3    Cu_oxidase_CS    Cupredoxin    FA58C    Factor_5/8    Factor_8    Galactose-bd-like   
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)F8
PDB (SRS)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
PDB (PDBSum)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
PDB (IMB)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
PDB (RSDB)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
Structural Biology KnowledgeBase1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
SCOP (Structural Classification of Proteins)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
CATH (Classification of proteins structures)1CFG    1D7P    1FAC    1IQD    2R7E    3CDZ    3HNB    3HNY    3HOB    3J2Q    3J2S    4BDV    4KI5    4PT6    4XZU   
SuperfamilyP00451
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
STRING (EMBL)F8
ZODIACF8
Ontologies - Pathways
QuickGOP00451
Ontology : AmiGOGolgi membrane  platelet degranulation  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  endoplasmic reticulum lumen  plasma membrane  ER to Golgi vesicle-mediated transport  acute-phase response  blood coagulation  blood coagulation, intrinsic pathway  oxidoreductase activity  ER to Golgi transport vesicle  platelet activation  platelet alpha granule lumen  endoplasmic reticulum-Golgi intermediate compartment membrane  COPII vesicle coating  oxidation-reduction process  
Ontology : EGO-EBIGolgi membrane  platelet degranulation  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  endoplasmic reticulum lumen  plasma membrane  ER to Golgi vesicle-mediated transport  acute-phase response  blood coagulation  blood coagulation, intrinsic pathway  oxidoreductase activity  ER to Golgi transport vesicle  platelet activation  platelet alpha granule lumen  endoplasmic reticulum-Golgi intermediate compartment membrane  COPII vesicle coating  oxidation-reduction process  
Pathways : BIOCARTAIntrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
NDEx Network
Atlas of Cancer Signalling NetworkF8
Wikipedia pathwaysF8
Orthology - Evolution
OrthoDB2157
GeneTree (enSembl)ENSG00000185010
Phylogenetic Trees/Animal Genes : TreeFamF8
Homologs : HomoloGeneF8
Homology/Alignments : Family Browser (UCSC)F8
Gene fusions - Rearrangements
Fusion: TCGADIAPH2 Xq21.33 F8 Xq28 LGG
Fusion: TCGAG6PD Xq28 F8 Xq28 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerF8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)F8
dbVarF8
ClinVarF8
1000_GenomesF8 
Exome Variant ServerF8
ExAC (Exome Aggregation Consortium)F8 (select the gene name)
Genetic variants : HAPMAP2157
Genomic Variants (DGV)F8 [DGVbeta]
Mutations
ICGC Data PortalF8 
TCGA Data PortalF8 
Broad Tumor PortalF8
OASIS PortalF8 [ Somatic mutations - Copy number]
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
BioMutasearch F8
DgiDB (Drug Gene Interaction Database)F8
DoCM (Curated mutations)F8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)F8 (select a term)
intoGenF8
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:154064064-154250998  ENSG00000185010
CONAN: Copy Number AnalysisF8 
Mutations and Diseases : HGMDF8
OMIM134500    300841    306700   
MedgenF8
Genetic Testing Registry F8
NextProtP00451 [Medical]
TSGene2157
GENETestsF8
Huge Navigator F8 [HugePedia]
snp3D : Map Gene to Disease2157
BioCentury BCIQF8
ClinGenF8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2157
Chemical/Pharm GKB GenePA27952
Clinical trialF8
Miscellaneous
canSAR (ICR)F8 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineF8
EVEXF8
GoPubMedF8
iHOPF8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:02:07 CEST 2016

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