Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:FACA
gptkb:FAA |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Fanconi_anemia
|
| gptkbp:discoveredIn |
1992
|
| gptkbp:Entrez_Gene_ID |
2175
ENSG00000187741 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
gptkb:Fanconi_anemia_complementation_group_A
|
| gptkbp:function |
DNA repair
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:3588
|
| https://www.w3.org/2000/01/rdf-schema#label |
FANCA
|
| gptkbp:involves |
Fanconi anemia pathway
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
|
| gptkbp:mutationAssociatedWith |
increased risk of cancer
|
| gptkbp:OMIM |
607139
|
| gptkbp:orthologInMouse |
gptkb:Fanca
|
| gptkbp:product |
gptkb:Fanconi_anemia_group_A_protein
|
| gptkbp:UniProtID |
Q00597
|
| gptkbp:bfsParent |
gptkb:Fanconi_anemia
|
| gptkbp:bfsLayer |
5
|