|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
ASX-like 1
Additional sex combs-like protein 1
KIAA0978
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
myelodysplastic syndrome
Bohring-Opitz syndrome
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:domain
|
PHD finger
ASXH domain
plant homeodomain
|
|
gptkbp:Entrez_Gene_ID
|
171023
ENSG00000171456
|
|
gptkbp:expressedIn
|
bone marrow
hematopoietic cells
|
|
gptkbp:fullName
|
Additional sex combs like transcriptional regulator 1
|
|
gptkbp:function
|
epigenetic regulation
transcriptional regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:17021
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ASXL1
|
|
gptkbp:interactsWith
|
gptkb:BAP1
gptkb:EZH2
gptkb:PRC2_complex
|
|
gptkbp:length
|
1541 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 20
20q11
|
|
gptkbp:molecularWeight
|
170 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
loss-of-function
frameshift
developmental disorder
hematological malignancy
|
|
gptkbp:OMIM
|
612990
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Asxl1
|
|
gptkbp:orthologInZebrafish
|
asxl1
|
|
gptkbp:product
|
ASXL1 protein
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
chromatin structure
histone modification
HOXA gene cluster
|
|
gptkbp:symbol
|
gptkb:ASXL1
|
|
gptkbp:UniProtID
|
Q8IXJ9
|
|
gptkbp:bfsParent
|
gptkb:BAP1
gptkb:CMML
gptkb:chronic_myelomonocytic_leukemia
|
|
gptkbp:bfsLayer
|
7
|