|
gptkbp:instanceOf
|
Ensembl gene ID
|
|
gptkbp:associatedWith
|
Developmental verbal dyspraxia
Speech-language disorder-1
|
|
gptkbp:biologicalProcess
|
nervous system development
regulation of transcription, DNA-templated
DNA-binding transcription factor activity
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
|
|
gptkbp:discoveredBy
|
gptkb:Simon_E._Fisher
|
|
gptkbp:encodes
|
gptkb:Forkhead_box_protein_P2
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:GRCh38.p13
gptkb:GRCh37.p13
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:testis
brain
heart
liver
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:gene
|
gptkb:FOXP2
|
|
gptkbp:geneType
|
protein_coding
|
|
gptkbp:hasTranscript
|
ENST00000366839
ENST00000540176
ENST00000540177
ENST00000541758
ENST00000541759
|
|
gptkbp:HGNC_ID
|
HGNC:3819
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000136717
|
|
gptkbp:locatedOnChromosome
|
7
7q31.1
|
|
gptkbp:mutationAssociatedWith
|
R328X
R553H
|
|
gptkbp:OMIM
|
605317
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
FOXP2 (Pan troglodytes)
Foxp2 (Mus musculus)
foxp2 (Danio rerio)
|
|
gptkbp:RefSeq
|
NM_014491
|
|
gptkbp:relatedTo
|
cognitive function
language development
speech production
|
|
gptkbp:startPoint
|
113726484
114043385
|
|
gptkbp:strand
|
minus
|
|
gptkbp:UniProtID
|
O15409
|
|
gptkbp:bfsParent
|
gptkb:BIN1
|
|
gptkbp:bfsLayer
|
8
|