|
gptkbp:instanceOf
|
gptkb:Ensembl_gene_ID
|
|
gptkbp:alternativeName
|
gptkb:BRCC1
gptkb:PPP1R53
gptkb:RNF53
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:encodes
|
gptkb:BRCA1
|
|
gptkbp:Entrez_Gene_ID
|
672
|
|
gptkbp:expressedIn
|
gptkb:testis
breast tissue
|
|
gptkbp:function
|
DNA repair
transcription regulation
cell cycle checkpoint control
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
ENSG00000249872
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
ENST00000357654
ENST00000471181
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
gptkbp:isTumorSuppressor
|
true
|
|
gptkbp:locatedOnChromosome
|
17
17q21.31
|
|
gptkbp:mutationAssociatedWith
|
increased cancer risk
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:partOf
|
human genome
|
|
gptkbp:pathway
|
Fanconi anemia pathway
Homologous recombination
|
|
gptkbp:product
|
gptkb:Breast_cancer_type_1_susceptibility_protein
|
|
gptkbp:startPoint
|
43044295
43125482
|
|
gptkbp:strand
|
negative
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:APOB_gene
gptkb:Ewing_sarcoma_breakpoint_region_1
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000084674
|