|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
BAF250A
SMARCF1
|
|
gptkbp:associatedWith
|
gptkb:cancer
gastric cancer
ovarian clear cell carcinoma
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:domain
|
ARID domain
BAF250_C domain
DUF3518 domain
|
|
gptkbp:encodes
|
AT-rich interactive domain-containing protein 1A
|
|
gptkbp:Entrez_Gene_ID
|
8289
ENSG00000117713
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:function
|
transcription regulation
chromatin remodeling
|
|
gptkbp:HGNC_ID
|
HGNC:13158
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ARID1A
|
|
gptkbp:interactsWith
|
gptkb:ARID1B
gptkb:SMARCA4
gptkb:SMARCB1
gptkb:SMARCC1
gptkb:SMARCC2
|
|
gptkbp:length
|
2285 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p36.11
|
|
gptkbp:molecularWeight
|
242 kDa
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
tumor suppressor inactivation
|
|
gptkbp:mutationDetectedBy
|
PCR
sequencing
immunohistochemistry
|
|
gptkbp:mutationFrequencyInEndometrioidCarcinoma
|
~30%
|
|
gptkbp:mutationFrequencyInOvarianClearCellCarcinoma
|
~50%
|
|
gptkbp:OMIM
|
603024
|
|
gptkbp:orthologInFruitFly
|
osa
|
|
gptkbp:orthologInMouse
|
Arid1a
|
|
gptkbp:orthologInYeast
|
SWI1
|
|
gptkbp:orthologInZebrafish
|
arid1aa
|
|
gptkbp:partOf
|
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
DNA repair
gene expression
cell cycle
|
|
gptkbp:UniProtID
|
O14497
|
|
gptkbp:bfsParent
|
gptkb:cancer
|
|
gptkbp:bfsLayer
|
4
|