|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
TEL
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
leukemia
myelodysplastic syndrome
thrombocytopenia
|
|
gptkbp:discoveredBy
|
Golub et al.
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
ETV6 protein
|
|
gptkbp:Entrez_Gene_ID
|
2120
|
|
gptkbp:expressedIn
|
hematopoietic cells
endothelial cells
|
|
gptkbp:family
|
gptkb:ETS_family
|
|
gptkbp:fullName
|
gptkb:ETS_variant_transcription_factor_6
|
|
gptkbp:function
|
transcriptional repressor
|
|
gptkbp:HGNC_ID
|
gptkb:ETV6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ETV6 gene
|
|
gptkbp:involvedIn
|
chromosomal translocations
|
|
gptkbp:length
|
8 exons
|
|
gptkbp:locatedOnChromosome
|
12
12p13.2
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
600618
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Etv6
zebrafish etv6
|
|
gptkbp:proteinFamily
|
gptkb:ETS_domain
PNT domain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
cell proliferation
|
|
gptkbp:significance
|
germline mutations cause familial thrombocytopenia
somatic mutations found in leukemia
|
|
gptkbp:translocationPartner
|
gptkb:JAK2
gptkb:PDGFRB
gptkb:ABL1
gptkb:EPOR
gptkb:FLT3
gptkb:FRK
gptkb:SNRK
gptkb:RUNX1
gptkb:PAX5
gptkb:NTRK3
gptkb:LYN
gptkb:NCOA2
gptkb:MECOM
gptkb:ACSL6
gptkb:MDS1
gptkb:MN1
gptkb:TRKC
gptkb:ZNF384
SYK
SLC12A2
|
|
gptkbp:UniProtID
|
P41212
|
|
gptkbp:bfsParent
|
gptkb:12p13
|
|
gptkbp:bfsLayer
|
7
|