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ABRAXAS1 (abraxas 1, BRCA1 A complex subunit)

Identity

Alias (NCBI)ABRA1
CCDC98
FAM175A
HGNC (Hugo) ABRAXAS1
HGNC Alias symbFLJ13614
ABRA1
ABRAXAS
HGNC Alias nameAbraxas protein
HGNC Previous nameCCDC98
 FAM175A
HGNC Previous namecoiled-coil domain containing 98
 family with sequence similarity 175, member A
 family with sequence similarity 175 member A
 Abraxas 1, BRCA1 A complex subunit
LocusID (NCBI) 84142
Atlas_Id 56899
Location 4q21.23  [Link to chromosome band 4q21]
Location_base_pair Starts at 83459517 and ends at 83485100 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    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]  chr4:83459517-83485100 [Contig_View]  ABRAXAS1 [Vega]
ICGC DataPortalENSG00000163322
TCGA cBioPortalABRAXAS1
AceView (NCBI)ABRAXAS1
Genatlas (Paris)ABRAXAS1
SOURCE (Princeton)ABRAXAS1
Genetics Home Reference (NIH)ABRAXAS1
Genomic and cartography
GoldenPath hg38 (UCSC)ABRAXAS1  -     chr4:83459517-83485100 -  4q21.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABRAXAS1  -     4q21.23   [Description]    (hg19-Feb_2009)
GoldenPathABRAXAS1 - 4q21.23 [CytoView hg19]  ABRAXAS1 - 4q21.23 [CytoView hg38]
ImmunoBaseENSG00000163322
Genome Data Viewer NCBIABRAXAS1 [Mapview hg19]  
OMIM611143   
Gene and transcription
Genbank (Entrez)AK021582 AK022704 AK023676 AY358576 BC016905
RefSeq transcript (Entrez)NM_001345962 NM_139076
Consensus coding sequences : CCDS (NCBI)ABRAXAS1
Gene ExpressionABRAXAS1 [ NCBI-GEO ]   ABRAXAS1 [ EBI - ARRAY_EXPRESS ]   ABRAXAS1 [ SEEK ]   ABRAXAS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABRAXAS1 [ Firebrowse - Broad ]
GenevisibleExpression of ABRAXAS1 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
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
PDB (RSDB)4JLU    4U4A    4Y18    4Y2G   
PDB Europe4JLU    4U4A    4Y18    4Y2G   
PDB (PDBSum)4JLU    4U4A    4Y18    4Y2G   
PDB (IMB)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
AlphaFold pdb e-kbQ6UWZ7   
Human Protein Atlas [tissue]ENSG00000163322-ABRAXAS1 [tissue]
HPRD08584
Protein Interaction databases
DIP (DOE-UCLA)Q6UWZ7
IntAct (EBI)Q6UWZ7
BioGRIDABRAXAS1
STRING (EMBL)ABRAXAS1
ZODIACABRAXAS1
Ontologies - Pathways
QuickGOQ6UWZ7
Ontology : AmiGOprotein binding  nucleus  nucleus  nucleoplasm  double-strand break repair  double-strand break repair  double-strand break repair via nonhomologous end joining  chromatin organization  mitotic G2 DNA damage checkpoint signaling  microtubule binding  attachment of spindle microtubules to kinetochore  response to ionizing radiation  protein deubiquitination  nuclear body  polyubiquitin modification-dependent protein binding  polyubiquitin modification-dependent protein binding  positive regulation of DNA repair  BRCA1-A complex  protein K63-linked deubiquitination  mitotic spindle assembly  
Ontology : EGO-EBIprotein binding  nucleus  nucleus  nucleoplasm  double-strand break repair  double-strand break repair  double-strand break repair via nonhomologous end joining  chromatin organization  mitotic G2 DNA damage checkpoint signaling  microtubule binding  attachment of spindle microtubules to kinetochore  response to ionizing radiation  protein deubiquitination  nuclear body  polyubiquitin modification-dependent protein binding  polyubiquitin modification-dependent protein binding  positive regulation of DNA repair  BRCA1-A complex  protein K63-linked deubiquitination  mitotic spindle assembly  
NDEx NetworkABRAXAS1
Atlas of Cancer Signalling NetworkABRAXAS1
Wikipedia pathwaysABRAXAS1
Orthology - Evolution
OrthoDB84142
GeneTree (enSembl)ENSG00000163322
Phylogenetic Trees/Animal Genes : TreeFamABRAXAS1
Homologs : HomoloGeneABRAXAS1
Homology/Alignments : Family Browser (UCSC)ABRAXAS1
Gene fusions - Rearrangements
Fusion : MitelmanPI4KA/FAM175A [22q11.21/4q21.23]  
Fusion : QuiverABRAXAS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABRAXAS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABRAXAS1
dbVarABRAXAS1
ClinVarABRAXAS1
MonarchABRAXAS1
1000_GenomesABRAXAS1 
Exome Variant ServerABRAXAS1
GNOMAD BrowserENSG00000163322
Varsome BrowserABRAXAS1
ACMGABRAXAS1 variants
VarityQ6UWZ7
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]
Somatic Mutations in Cancer : COSMICABRAXAS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DABRAXAS1
Mutations and Diseases : HGMDABRAXAS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaABRAXAS1
DgiDB (Drug Gene Interaction Database)ABRAXAS1
DoCM (Curated mutations)ABRAXAS1
CIViC (Clinical Interpretations of Variants in Cancer)ABRAXAS1
Cancer3DABRAXAS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611143   
Orphanet
DisGeNETABRAXAS1
MedgenABRAXAS1
Genetic Testing Registry ABRAXAS1
NextProtQ6UWZ7 [Medical]
GENETestsABRAXAS1
Target ValidationABRAXAS1
Huge Navigator ABRAXAS1 [HugePedia]
ClinGenABRAXAS1
Clinical trials, drugs, therapy
MyCancerGenomeABRAXAS1
Protein Interactions : CTDABRAXAS1
Pharm GKB GenePA162387308
PharosQ6UWZ7
Clinical trialABRAXAS1
Miscellaneous
canSAR (ICR)ABRAXAS1
HarmonizomeABRAXAS1
DataMed IndexABRAXAS1
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABRAXAS1
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 14:58:07 CEST 2021

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