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