|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
TEL
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
leukemia
myelodysplastic syndrome
thrombocytopenia
|
|
gptkbp:biologicalProcess
|
DNA binding
transcription factor activity
|
|
gptkbp:discoveredBy
|
gptkb:Rabbitts_TH_et_al.
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:domain
|
gptkb:ETS_domain
PNT (pointed) domain
|
|
gptkbp:encodes
|
transcription factor ETV6
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000139083
2120
|
|
gptkbp:expressedIn
|
bone marrow
hematopoietic cells
|
|
gptkbp:formsFusionGeneWith
|
gptkb:JAK2
gptkb:PDGFRB
gptkb:ZNF198
gptkb:ARNT
gptkb:GOT1
gptkb:ABL1
gptkb:EPOR
gptkb:FLT3
gptkb:FRK
gptkb:SNRK
gptkb:RUNX1
gptkb:SLC44A1
gptkb:SLC9A3R1
gptkb:BCL2L1
gptkb:NTRK3
gptkb:MECOM
gptkb:ACSL6
gptkb:L3MBTL1
gptkb:MDS1
gptkb:MN1
gptkb:SYNJ2
gptkb:TRKC
SYK
|
|
gptkbp:fullName
|
gptkb:ETS_variant_transcription_factor_6
|
|
gptkbp:function
|
transcriptional repressor
regulation of hematopoiesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
3495
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ETV6
|
|
gptkbp:involvedIn
|
chromosomal translocations
|
|
gptkbp:length
|
8 exons
|
|
gptkbp:locatedOnChromosome
|
12
12p13.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_thrombocytopenia
predisposition to leukemia
|
|
gptkbp:OMIM
|
600618
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Etv6
|
|
gptkbp:orthologInZebrafish
|
etv6
|
|
gptkbp:proteinFamily
|
gptkb:ETS_family
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
cell proliferation
|
|
gptkbp:UniProtID
|
P41212
|
|
gptkbp:bfsParent
|
gptkb:TEL2-A
gptkb:12p13
|
|
gptkbp:bfsLayer
|
7
|