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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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gptkb:FRAXA
Fragile X syndrome gene
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gptkbp:alternativeSplicing
|
yes
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gptkbp:associatedWith
|
gptkb:Fragile_X_syndrome
Fragile X-associated primary ovarian insufficiency
Fragile X-associated tremor/ataxia syndrome
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gptkbp:biologicalProcess
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regulates mRNA transport and translation
|
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gptkbp:discoveredBy
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gptkb:Stephen_T._Warren
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gptkbp:discoveredIn
|
1991
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gptkbp:encodes
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gptkb:FMRP
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gptkbp:Entrez_Gene_ID
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2332
|
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gptkbp:fullMutationCGGRepeatRange
|
>200 repeats
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gptkbp:fullName
|
Fragile X Mental Retardation 1
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gptkbp:function
|
RNA binding
translational repression
regulation of synaptic plasticity
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gptkbp:gene
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gptkb:FMR1
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gptkbp:geneType
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protein-coding
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gptkbp:HGNC_ID
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gptkb:HGNC:3775
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gptkbp:inheritance
|
X-linked dominant
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gptkbp:length
|
632 amino acids
|
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gptkbp:lengthOfGene
|
~38 kb
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gptkbp:locatedOnChromosome
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gptkb:X_chromosome
Xq27.3
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gptkbp:methylationStatus
|
hypermethylation in full mutation
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gptkbp:mutationAssociatedWith
|
gptkb:intellectual_disability
CGG trinucleotide repeat expansion
autism spectrum features
loss of FMRP expression
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gptkbp:normalCGGRepeatRange
|
5-44 repeats
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gptkbp:numberOfExons
|
17
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gptkbp:OMIM
|
309550
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gptkbp:orthologInMouse
|
gptkb:Fmr1
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gptkbp:orthologInZebrafish
|
fmr1
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gptkbp:pathway
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neurodevelopment
mRNA transport
synaptic signaling
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gptkbp:premutationCGGRepeatRange
|
55-200 repeats
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gptkbp:product
|
Fragile X Mental Retardation Protein
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gptkbp:repeatRegion
|
5' UTR
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gptkbp:subcellularLocation
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gptkb:cytoplasm
neuronal dendrites
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gptkbp:tissue_specificity
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gptkb:testis
brain
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gptkbp:UniProtID
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gptkb:Q06787
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gptkbp:bfsParent
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gptkb:CGG
gptkb:FMR1P
gptkb:FMR1_protein
gptkb:FMRP
gptkb:PPM-X_syndrome_gene
gptkb:fragile_X_mental_retardation_protein
gptkb:FMRP_protein
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gptkbp:bfsLayer
|
8
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https://www.w3.org/2000/01/rdf-schema#label
|
FMR1 gene
|