ENSG00000156711

GPTKB entity

Statements (49)
Predicate Object
gptkbp:instanceOf 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
https://www.w3.org/2000/01/rdf-schema#label ENSG00000156711
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