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F8A1 (coagulation factor VIII-associated 1)

Identity

Alias_namesF8A
coagulation factor VIII-associated (intronic transcript) 1
Alias_symbol (synonym)DXS522E
Other aliasHAP40
HGNC (Hugo) F8A1
LocusID (NCBI) 8263
Atlas_Id 62962
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 154886360 and ends at 154888061 bp from pter ( according to hg38-Dec_2013)

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)F8A1   3547
Cards
Entrez_Gene (NCBI)F8A1  8263  coagulation factor VIII-associated 1
AliasesDXS522E; F8A; HAP40
GeneCards (Weizmann)F8A1
Ensembl hg19 (Hinxton)ENSG00000277203 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000277203 [Gene_View]  chrX:154886360-154888061 [Contig_View]  F8A1 [Vega]
ICGC DataPortalENSG00000277203
TCGA cBioPortalF8A1
AceView (NCBI)F8A1
Genatlas (Paris)F8A1
WikiGenes8263
SOURCE (Princeton)F8A1
Genetics Home Reference (NIH)F8A1
Genomic and cartography
GoldenPath hg38 (UCSC)F8A1  -     chrX:154886360-154888061 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)F8A1  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblF8A1 - Xq28 [CytoView hg19]  F8A1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIF8A1 [Mapview hg19]  F8A1 [Mapview hg38]
OMIM305423   
Gene and transcription
Genbank (Entrez)AL556125 AM393473 AM393736 BC039693 BC071963
RefSeq transcript (Entrez)NM_012151
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)F8A1
Cluster EST : UnigeneHs.533543 [ NCBI ]
CGAP (NCI)Hs.533543
Alternative Splicing GalleryENSG00000277203
Gene ExpressionF8A1 [ NCBI-GEO ]   F8A1 [ EBI - ARRAY_EXPRESS ]   F8A1 [ SEEK ]   F8A1 [ MEM ]
Gene Expression Viewer (FireBrowse)F8A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8263
GTEX Portal (Tissue expression)F8A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23610   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23610  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23610
Splice isoforms : SwissVarP23610
PhosPhoSitePlusP23610
Domains : Interpro (EBI)TPR-like_helical_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)F8A1
DMDM Disease mutations8263
Blocks (Seattle)F8A1
SuperfamilyP23610
Human Protein AtlasENSG00000277203
Peptide AtlasP23610
HPRD02374
Protein Interaction databases
DIP (DOE-UCLA)P23610
IntAct (EBI)P23610
FunCoupENSG00000277203
BioGRIDF8A1
STRING (EMBL)F8A1
ZODIACF8A1
Ontologies - Pathways
QuickGOP23610
Ontology : AmiGOmolecular_function  nucleus  biological_process  
Ontology : EGO-EBImolecular_function  nucleus  biological_process  
NDEx NetworkF8A1
Atlas of Cancer Signalling NetworkF8A1
Wikipedia pathwaysF8A1
Orthology - Evolution
OrthoDB8263
GeneTree (enSembl)ENSG00000277203
Phylogenetic Trees/Animal Genes : TreeFamF8A1
HOVERGENP23610
HOGENOMP23610
Homologs : HomoloGeneF8A1
Homology/Alignments : Family Browser (UCSC)F8A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerF8A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)F8A1
dbVarF8A1
ClinVarF8A1
1000_GenomesF8A1 
Exome Variant ServerF8A1
ExAC (Exome Aggregation Consortium)F8A1 (select the gene name)
Genetic variants : HAPMAP8263
Genomic Variants (DGV)F8A1 [DGVbeta]
DECIPHERF8A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisF8A1 
Mutations
ICGC Data PortalF8A1 
TCGA Data PortalF8A1 
Broad Tumor PortalF8A1
OASIS PortalF8A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICF8A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDF8A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch F8A1
DgiDB (Drug Gene Interaction Database)F8A1
DoCM (Curated mutations)F8A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)F8A1 (select a term)
intoGenF8A1
Cancer3DF8A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM305423   
Orphanet
MedgenF8A1
Genetic Testing Registry F8A1
NextProtP23610 [Medical]
TSGene8263
GENETestsF8A1
Target ValidationF8A1
Huge Navigator F8A1 [HugePedia]
snp3D : Map Gene to Disease8263
BioCentury BCIQF8A1
ClinGenF8A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8263
Chemical/Pharm GKB GenePA27953
Clinical trialF8A1
Miscellaneous
canSAR (ICR)F8A1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineF8A1
EVEXF8A1
GoPubMedF8A1
iHOPF8A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:14:33 CEST 2017

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