|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Fanconi_anemia
gptkb:acute_myeloid_leukemia
bone marrow failure
solid tumors
congenital abnormalities
|
|
gptkbp:database
|
gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:ClinVar
gptkb:HGNC
gptkb:OMIM
gptkb:UniProt
gptkb:dbSNP
gptkb:Ensembl
gptkb:GenBank
gptkb:LOVD
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:FANCA_protein
|
|
gptkbp:Entrez_Gene_ID
|
2175
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
Strathdee et al.
|
|
gptkbp:fullName
|
gptkb:Fanconi_anemia_complementation_group_A
|
|
gptkbp:function
|
DNA repair
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
358
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:interactsWith
|
gptkb:FANCG_protein
gptkb:FANCB_protein
gptkb:FANCC_protein
gptkb:FANCD2_protein
gptkb:FANCF_protein
gptkb:FANCL_protein
gptkb:FANCM_protein
gptkb:BRCA2_protein
|
|
gptkbp:involves
|
Fanconi anemia pathway
|
|
gptkbp:length
|
~80 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:16q24.3
gptkb:chromosome_16
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
frameshift
increased risk of cancer
splice site
|
|
gptkbp:numberOfExons
|
43
|
|
gptkbp:OMIM
|
607139
|
|
gptkbp:orthologInMouse
|
gptkb:Fanca
|
|
gptkbp:orthologInZebrafish
|
fanca
|
|
gptkbp:UniProtID
|
Q00597
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_anemia_group_A_protein
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FANCA gene
|