Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:BRCA1
|
| gptkbp:associatedWith |
gptkb:cancer
|
| gptkbp:clinicalTrialPhase |
genetic testing for cancer risk
|
| gptkbp:discoveredBy |
gptkb:Mary-Claire_King
|
| gptkbp:encodes |
gptkb:BRCA1_protein
|
| gptkbp:Entrez_Gene_ID |
672
|
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:firstDescribed |
1990
|
| gptkbp:function |
DNA repair
tumor suppression |
| gptkbp:HGNC_ID |
1100
|
| https://www.w3.org/2000/01/rdf-schema#label |
BROVCA1
|
| gptkbp:interactsWith |
gptkb:CHEK2
gptkb:BARD1 gptkb:PALB2 gptkb:p53 gptkb:BRCA2 gptkb:RAD51 ATM |
| gptkbp:involvedIn |
homologous recombination
cell cycle checkpoint control |
| gptkbp:locatedOnChromosome |
gptkb:17q21
|
| gptkbp:mutationAssociatedWith |
nonsense
missense increased cancer risk frameshift |
| gptkbp:OMIM |
113705
|
| gptkbp:orthologInMouse |
Brca1
|
| gptkbp:UniProtID |
P38398
|
| gptkbp:bfsParent |
gptkb:HGNC:746
gptkb:ENSG00000127616 gptkb:ENSG00000137098 |
| gptkbp:bfsLayer |
7
|