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ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

Identity

Other aliasABRA1
CCDC98
FAM175A
HGNC (Hugo) ABRAXAS1
LocusID (NCBI) 84142
Atlas_Id 56899
Location 4q21.23  [Link to chromosome band 4q21]
Location_base_pair Starts at 83460941 and ends at 83485137 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)
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


External links

Nomenclature
HGNC (Hugo)ABRAXAS1   25829
Cards
Entrez_Gene (NCBI)ABRAXAS1  84142  abraxas 1, BRCA1 A complex subunit
AliasesABRA1; CCDC98; FAM175A
GeneCards (Weizmann)ABRAXAS1
Ensembl hg19 (Hinxton)ENSG00000163322 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163322 [Gene_View]  ENSG00000163322 [Sequence]  chr4:83460941-83485137 [Contig_View]  ABRAXAS1 [Vega]
ICGC DataPortalENSG00000163322
TCGA cBioPortalABRAXAS1
AceView (NCBI)ABRAXAS1
Genatlas (Paris)ABRAXAS1
WikiGenes84142
SOURCE (Princeton)ABRAXAS1
Genetics Home Reference (NIH)ABRAXAS1
Genomic and cartography
GoldenPath hg38 (UCSC)ABRAXAS1  -     chr4:83460941-83485137 -  4q21.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABRAXAS1  -     4q21.23   [Description]    (hg19-Feb_2009)
EnsemblABRAXAS1 - 4q21.23 [CytoView hg19]  ABRAXAS1 - 4q21.23 [CytoView hg38]
Mapping of homologs : NCBIABRAXAS1 [Mapview hg19]  ABRAXAS1 [Mapview hg38]
OMIM611143   
Gene and transcription
Genbank (Entrez)AK021582 AK022704 AK023676 AY358576 BC016905
RefSeq transcript (Entrez)NM_001345962 NM_139076
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABRAXAS1
Cluster EST : UnigeneHs.334772 [ NCBI ]
CGAP (NCI)Hs.334772
Alternative Splicing GalleryENSG00000163322
Gene ExpressionABRAXAS1 [ NCBI-GEO ]   ABRAXAS1 [ EBI - ARRAY_EXPRESS ]   ABRAXAS1 [ SEEK ]   ABRAXAS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABRAXAS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84142
GTEX Portal (Tissue expression)ABRAXAS1
Human Protein AtlasENSG00000163322-ABRAXAS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UWZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UWZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UWZ7
Splice isoforms : SwissVarQ6UWZ7
PhosPhoSitePlusQ6UWZ7
Domaine pattern : Prosite (Expaxy)MPN (PS50249)   
Domains : Interpro (EBI)FAM175    FAM175_Abraxas1    MPN   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ABRAXAS1
DMDM Disease mutations84142
Blocks (Seattle)ABRAXAS1
PDB (SRS)4JLU    4U4A    4Y18    4Y2G   
PDB (PDBSum)4JLU    4U4A    4Y18    4Y2G   
PDB (IMB)4JLU    4U4A    4Y18    4Y2G   
PDB (RSDB)4JLU    4U4A    4Y18    4Y2G   
Structural Biology KnowledgeBase4JLU    4U4A    4Y18    4Y2G   
SCOP (Structural Classification of Proteins)4JLU    4U4A    4Y18    4Y2G   
CATH (Classification of proteins structures)4JLU    4U4A    4Y18    4Y2G   
SuperfamilyQ6UWZ7
Human Protein Atlas [tissue]ENSG00000163322-ABRAXAS1 [tissue]
Peptide AtlasQ6UWZ7
HPRD08584
IPIIPI00030384   IPI00964056   IPI00386273   IPI00965417   IPI00964905   
Protein Interaction databases
DIP (DOE-UCLA)Q6UWZ7
IntAct (EBI)Q6UWZ7
FunCoupENSG00000163322
BioGRIDABRAXAS1
STRING (EMBL)ABRAXAS1
ZODIACABRAXAS1
Ontologies - Pathways
QuickGOQ6UWZ7
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  double-strand break repair  double-strand break repair via nonhomologous end joining  chromatin organization  response to ionizing radiation  protein deubiquitination  nuclear body  polyubiquitin modification-dependent protein binding  positive regulation of DNA repair  BRCA1-A complex  signal transduction involved in G2 DNA damage checkpoint  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  double-strand break repair  double-strand break repair via nonhomologous end joining  chromatin organization  response to ionizing radiation  protein deubiquitination  nuclear body  polyubiquitin modification-dependent protein binding  positive regulation of DNA repair  BRCA1-A complex  signal transduction involved in G2 DNA damage checkpoint  
NDEx NetworkABRAXAS1
Atlas of Cancer Signalling NetworkABRAXAS1
Wikipedia pathwaysABRAXAS1
Orthology - Evolution
OrthoDB84142
GeneTree (enSembl)ENSG00000163322
Phylogenetic Trees/Animal Genes : TreeFamABRAXAS1
HOVERGENQ6UWZ7
HOGENOMQ6UWZ7
Homologs : HomoloGeneABRAXAS1
Homology/Alignments : Family Browser (UCSC)ABRAXAS1
Gene fusions - Rearrangements
Fusion : MitelmanPI4KA/FAM175A [22q11.21/4q21.23]  [t(4;22)(q21;q11)]  
Fusion : QuiverABRAXAS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABRAXAS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABRAXAS1
dbVarABRAXAS1
ClinVarABRAXAS1
1000_GenomesABRAXAS1 
Exome Variant ServerABRAXAS1
ExAC (Exome Aggregation Consortium)ENSG00000163322
GNOMAD BrowserENSG00000163322
Varsome BrowserABRAXAS1
Genetic variants : HAPMAP84142
Genomic Variants (DGV)ABRAXAS1 [DGVbeta]
DECIPHERABRAXAS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABRAXAS1 
Mutations
ICGC Data PortalABRAXAS1 
TCGA Data PortalABRAXAS1 
Broad Tumor PortalABRAXAS1
OASIS PortalABRAXAS1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDABRAXAS1
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
BioMutasearch ABRAXAS1
DgiDB (Drug Gene Interaction Database)ABRAXAS1
DoCM (Curated mutations)ABRAXAS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABRAXAS1 (select a term)
intoGenABRAXAS1
Cancer3DABRAXAS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611143   
Orphanet
DisGeNETABRAXAS1
MedgenABRAXAS1
Genetic Testing Registry ABRAXAS1
NextProtQ6UWZ7 [Medical]
TSGene84142
GENETestsABRAXAS1
Target ValidationABRAXAS1
Huge Navigator ABRAXAS1 [HugePedia]
snp3D : Map Gene to Disease84142
BioCentury BCIQABRAXAS1
ClinGenABRAXAS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84142
Chemical/Pharm GKB GenePA162387308
Clinical trialABRAXAS1
Miscellaneous
canSAR (ICR)ABRAXAS1 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABRAXAS1
EVEXABRAXAS1
GoPubMedABRAXAS1
iHOPABRAXAS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:49:16 CET 2018

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