|
gptkbp:instanceOf
|
gptkb:Ensembl_gene_ID
|
|
gptkbp:alias
|
gptkb:BROVCA1
gptkb:IRIS
gptkb:FANCS
gptkb:BRCC1
gptkb:PPP1R53
gptkb:RNF53
gptkb:PSCP
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:encodes
|
gptkb:BRCA1
|
|
gptkbp:Ensembl_Release
|
gptkb:GRCh38
|
|
gptkbp:Entrez_Gene_ID
|
672
|
|
gptkbp:function
|
DNA repair
tumor suppression
cell cycle checkpoint control
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasBiomarker
|
hereditary breast and ovarian cancer
|
|
gptkbp:hasParalog
|
gptkb:BRCA2
|
|
gptkbp:hasProteinLength
|
1863
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
ENST00000357654
ENST00000471181
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
gptkbp:locatedOnChromosome
|
17
43044295
43125482
17q21.31
|
|
gptkbp:numberOfExons
|
24
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Brca1_(Mus_musculus)
|
|
gptkbp:pathway
|
Cell cycle
Fanconi anemia pathway
Homologous recombination
p53 signaling pathway
|
|
gptkbp:product
|
P38398
|
|
gptkbp:proteinFamily
|
gptkb:BRCA_family
|
|
gptkbp:RefSeq
|
gptkb:NM_007294
|
|
gptkbp:significance
|
benign variants
likely pathogenic variants
pathogenic variants
uncertain significance variants
|
|
gptkbp:strand
|
minus
|
|
gptkbp:target
|
PARP inhibitors
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:MAPK13
|
|
gptkbp:bfsLayer
|
7
|
|
http://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000156711
|