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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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gptkb:KIAA0373
gptkb:NPHP6
gptkb:centrosomal_protein_290kDa
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gptkbp:associatedWith
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gptkb:Leber_congenital_amaurosis
gptkb:Bardet-Biedl_syndrome
gptkb:Joubert_syndrome
gptkb:Meckel_syndrome
gptkb:Senior-Loken_syndrome
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gptkbp:discoveredIn
|
2006
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gptkbp:encodes
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gptkb:centrosomal_protein_of_290_kDa
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gptkbp:Entrez_Gene_ID
|
80184
ENSG00000198707
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gptkbp:expressedIn
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gptkb:kidney
brain
retina
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gptkbp:foundIn
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gptkb:Homo_sapiens
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gptkbp:function
|
centrosome and cilia organization
ciliogenesis
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gptkbp:HGNC_ID
|
HGNC:29018
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|
https://www.w3.org/2000/01/rdf-schema#label
|
CEP290 gene
|
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gptkbp:length
|
2479 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 12q21.32
|
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gptkbp:mutationAssociatedWith
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missense mutation
nonsense mutation
ciliopathies
splice-site mutation
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gptkbp:OMIM
|
610142
|
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gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Mus_musculus
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gptkbp:proteinFamily
|
centrosomal proteins
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gptkbp:UniProtID
|
O15078
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gptkbp:bfsParent
|
gptkb:Leber_congenital_amaurosis
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gptkbp:bfsLayer
|
6
|