|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:BROVCA1
gptkb:IRIS
gptkb:FANCS
gptkb:BRCC1
gptkb:PPP1R53
gptkb:RNF53
gptkb:PSCP
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:BRCA1
|
|
gptkbp:Entrez_Gene_ID
|
672
|
|
gptkbp:function
|
DNA repair
transcription regulation
cell cycle checkpoint control
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
gptkb:ENST00000623083
ENST00000357654
ENST00000471181
ENST00000623084
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000157554
|
|
gptkbp:isClinicallyActionable
|
true
|
|
gptkbp:isHereditaryCancerGene
|
true
|
|
gptkbp:isInvolvedInPathway
|
apoptosis
cellular senescence
base excision repair
cell cycle
DNA damage response
Fanconi anemia pathway
homologous recombination
p53 signaling pathway
ubiquitin-mediated proteolysis
chromatin remodeling
transcriptional misregulation in cancer
|
|
gptkbp:isTumorSuppressor
|
true
|
|
gptkbp:length
|
81,189 bp
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q21.31
|
|
gptkbp:numberOfExons
|
24
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:strand
|
minus
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:COL1A2_gene
gptkb:ERG
|
|
gptkbp:bfsLayer
|
7
|