Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:fragile_X-associated_primary_ovarian_insufficiency
gptkb:fragile_X-associated_tremor/ataxia_syndrome gptkb:fragile_X_syndrome |
| gptkbp:discoveredBy |
gptkb:Stephen_T._Warren
|
| gptkbp:encodes |
gptkb:FMRP
|
| gptkbp:Entrez_Gene_ID |
2332
|
| gptkbp:expressedIn |
gptkb:testis
brain |
| gptkbp:function |
RNA binding
regulation of synaptic plasticity |
| gptkbp:HGNC_ID |
gptkb:HGNC:3775
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fmr1
|
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:locusType |
Xq27.3
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
intellectual disability CGG trinucleotide repeat expansion |
| gptkbp:OMIM |
309550
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
|
| gptkbp:product |
gptkb:fragile_X_mental_retardation_protein
|
| gptkbp:proteinFamily |
fragile X gene family
|
| gptkbp:symbol |
gptkb:FMR1
|
| gptkbp:UniProtID |
gptkb:Q06787
|
| gptkbp:bfsParent |
gptkb:FMR1
|
| gptkbp:bfsLayer |
7
|