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gptkbp:instanceOf
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Ensembl gene ID
|
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gptkbp:alternativeName
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gptkb:FANCS
gptkb:BRCC1
gptkb:PPP1R53
gptkb:RNF53
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gptkbp:associatedWith
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gptkb:cancer
|
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gptkbp:encodes
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gptkb:Breast_cancer_type_1_susceptibility_protein
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gptkbp:Entrez_Gene_ID
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gptkb:ENSP00000418960
gptkb:ENSP00000493313
672
ENSP00000350283
|
|
gptkbp:gene
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gptkb:BRCA1
|
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gptkbp:geneType
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protein-coding
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gptkbp:GO_term
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gptkb:nucleus
DNA repair
protein binding
ubiquitin-protein transferase activity
cell cycle checkpoint
chromatin binding
double-strand break repair
tumor suppressor activity
|
|
gptkbp:hasRefSeqID
|
gptkb:NM_007294
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
gptkb:ENST00000623083
ENST00000357654
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gptkbp:HGNC_ID
|
HGNC:1100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000129757
|
|
gptkbp:isTumorSuppressor
|
true
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
43044295
43125482
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
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gptkbp:pathway
|
DNA damage response
Cell cycle
Fanconi anemia pathway
Homologous recombination
p53 signaling pathway
|
|
gptkbp:PDB
|
gptkb:1JM7
gptkb:1T15
gptkb:4IGK
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:ClinVar
gptkb:OMIM
gptkb:UniProt
|
|
gptkbp:strand
|
negative
|
|
gptkbp:UniProtID
|
P38398
|
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gptkbp:bfsParent
|
gptkb:CDKN1C
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gptkbp:bfsLayer
|
6
|