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F5 (coagulation factor V)

Identity

Alias (NCBI)FVL
PCCF
RPRGL1
THPH2
HGNC (Hugo) F5
HGNC Previous namecoagulation factor V (proaccelerin, labile factor)
LocusID (NCBI) 2153
Atlas_Id 45563
Location 1q24.2  [Link to chromosome band 1q24]
Location_base_pair Starts at 169511951 and ends at 169586481 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)
ARNT (1q21.3) / F5 (1q24.2)NOS1AP (1q23.3) / F5 (1q24.2)SRF (6p21.1) / F5 (1q24.2)
ARNT 1q21.3 / F5 1q24.2NOS1AP 1q23.3 / F5 1q24.2SRF 6p21.1 / F5 1q24.2

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)F5   3542
LRG (Locus Reference Genomic)LRG_553
Cards
Entrez_Gene (NCBI)F5    coagulation factor V
AliasesFVL; PCCF; RPRGL1; THPH2
GeneCards (Weizmann)F5
Ensembl hg19 (Hinxton)ENSG00000198734 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198734 [Gene_View]  ENSG00000198734 [Sequence]  chr1:169511951-169586481 [Contig_View]  F5 [Vega]
ICGC DataPortalENSG00000198734
TCGA cBioPortalF5
AceView (NCBI)F5
Genatlas (Paris)F5
SOURCE (Princeton)F5
Genetics Home Reference (NIH)F5
Genomic and cartography
GoldenPath hg38 (UCSC)F5  -     chr1:169511951-169586481 -  1q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)F5  -     1q24.2   [Description]    (hg19-Feb_2009)
GoldenPathF5 - 1q24.2 [CytoView hg19]  F5 - 1q24.2 [CytoView hg38]
ImmunoBaseENSG00000198734
Genome Data Viewer NCBIF5 [Mapview hg19]  
OMIM188055   227400   600880   601367   612309   614389   
Gene and transcription
Genbank (Entrez)AJ297254 AJ297255 AK226079 AK291613 AK300469
RefSeq transcript (Entrez)NM_000130
Consensus coding sequences : CCDS (NCBI)F5
Gene ExpressionF5 [ NCBI-GEO ]   F5 [ EBI - ARRAY_EXPRESS ]   F5 [ SEEK ]   F5 [ MEM ]
Gene Expression Viewer (FireBrowse)F5 [ Firebrowse - Broad ]
GenevisibleExpression of F5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2153
GTEX Portal (Tissue expression)F5
Human Protein AtlasENSG00000198734-F5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12259   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12259  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12259
PhosPhoSitePlusP12259
Domaine pattern : Prosite (Expaxy)FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)    MULTICOPPER_OXIDASE1 (PS00079)   
Domains : Interpro (EBI)Coagulation_factor_V_LSPD    Cu-oxidase_3    Cu_oxidase_CS    Cupredoxin    FA58C    Factor_5/8-like    Galactose-bd-like_sf   
Domain families : Pfam (Sanger)Cu-oxidase_3 (PF07732)    F5_F8_type_C (PF00754)    LSPR (PF06049)   
Domain families : Pfam (NCBI)pfam07732    pfam00754    pfam06049   
Domain families : Smart (EMBL)FA58C (SM00231)  
Conserved Domain (NCBI)F5
PDB (RSDB)1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
PDB Europe1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
PDB (PDBSum)1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
PDB (IMB)1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
Structural Biology KnowledgeBase1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
SCOP (Structural Classification of Proteins)1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
CATH (Classification of proteins structures)1CZS    1CZT    1CZV    1FV4    1Y61    3P6Z    3P70    3S9C   
SuperfamilyP12259
AlphaFold pdb e-kbP12259   
Human Protein Atlas [tissue]ENSG00000198734-F5 [tissue]
HPRD01964
Protein Interaction databases
DIP (DOE-UCLA)P12259
IntAct (EBI)P12259
BioGRIDF5
STRING (EMBL)F5
ZODIACF5
Ontologies - Pathways
QuickGOP12259
Ontology : AmiGOplatelet degranulation  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  endoplasmic reticulum lumen  plasma membrane  endoplasmic reticulum to Golgi vesicle-mediated transport  blood coagulation  blood coagulation  blood circulation  membrane  COPII-coated ER to Golgi transport vesicle  platelet alpha granule  platelet alpha granule lumen  endoplasmic reticulum-Golgi intermediate compartment membrane  post-translational protein modification  cellular protein metabolic process  COPII vesicle coating  extracellular vesicle  
Ontology : EGO-EBIplatelet degranulation  copper ion binding  protein binding  extracellular region  extracellular region  extracellular space  endoplasmic reticulum lumen  plasma membrane  endoplasmic reticulum to Golgi vesicle-mediated transport  blood coagulation  blood coagulation  blood circulation  membrane  COPII-coated ER to Golgi transport vesicle  platelet alpha granule  platelet alpha granule lumen  endoplasmic reticulum-Golgi intermediate compartment membrane  post-translational protein modification  cellular protein metabolic process  COPII vesicle coating  extracellular vesicle  
Pathways : BIOCARTAIntrinsic Prothrombin Activation Pathway [Genes]    Extrinsic Prothrombin Activation Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkF5
Atlas of Cancer Signalling NetworkF5
Wikipedia pathwaysF5
Orthology - Evolution
OrthoDB2153
GeneTree (enSembl)ENSG00000198734
Phylogenetic Trees/Animal Genes : TreeFamF5
Homologs : HomoloGeneF5
Homology/Alignments : Family Browser (UCSC)F5
Gene fusions - Rearrangements
Fusion : MitelmanARNT/F5 [1q21.3/1q24.2]  
Fusion : MitelmanNOS1AP/F5 [1q23.3/1q24.2]  
Fusion : MitelmanSRF/F5 [6p21.1/1q24.2]  
Fusion : QuiverF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)F5
dbVarF5
ClinVarF5
MonarchF5
1000_GenomesF5 
Exome Variant ServerF5
GNOMAD BrowserENSG00000198734
Varsome BrowserF5
ACMGF5 variants
VarityP12259
Genomic Variants (DGV)F5 [DGVbeta]
DECIPHERF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisF5 
Mutations
ICGC Data PortalF5 
TCGA Data PortalF5 
Broad Tumor PortalF5
OASIS PortalF5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICF5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DF5
Mutations and Diseases : HGMDF5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaF5
DgiDB (Drug Gene Interaction Database)F5
DoCM (Curated mutations)F5
CIViC (Clinical Interpretations of Variants in Cancer)F5
Cancer3DF5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188055    227400    600880    601367    612309    614389   
Orphanet854    926    21909    22604   
DisGeNETF5
MedgenF5
Genetic Testing Registry F5
NextProtP12259 [Medical]
GENETestsF5
Target ValidationF5
Huge Navigator F5 [HugePedia]
ClinGenF5
Clinical trials, drugs, therapy
MyCancerGenomeF5
Protein Interactions : CTDF5
Pharm GKB GenePA159
PharosP12259
Clinical trialF5
Miscellaneous
canSAR (ICR)F5
HarmonizomeF5
DataMed IndexF5
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXF5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:08:45 CEST 2021

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