|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:breast_cancer_type_1_susceptibility_protein
gptkb:BRCC1
gptkb:RNF53
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:BRCA1_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000163394
672
|
|
gptkbp:function
|
DNA repair
tumor suppression
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
gptkb:ENST00000623083
ENST00000357654
ENST00000471181
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
43044295
43125482
|
|
gptkbp:mutationAssociatedWith
|
increased cancer risk
|
|
gptkbp:numberOfExons
|
24
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:partOf
|
human genome
|
|
gptkbp:pathway
|
Fanconi anemia pathway
homologous recombination
|
|
gptkbp:proteinFamily
|
gptkb:BRCT_domain
RING finger domain
|
|
gptkbp:reviewedBy
|
gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:OMIM
gptkb:UniProt
gptkb:Ensembl
|
|
gptkbp:strand
|
negative
|
|
gptkbp:target
|
PARP inhibitors
|
|
gptkbp:tissue_specificity
|
gptkb:breast
gptkb:testis
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:RAPGEF43
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000163394
|