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FLASH GENE
Symbol ETV6 contributors: mct - updated : 24-12-2013
HGNC name ets variant 6
HGNC id 3495
ASSOCIATED DISORDERS
corresponding disease(s) THC5
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion translocation   protein chimeric
chronic myelomonocytic leukemia (CMML) and malignant eosinophil proliferation with translocations t(5;12)(q33;p13), t(10;12)(q24;p13); in CML with translocation t(9;12)(q34;p13)
tumoral   translocation    
in ALL and in B cell precursor ALL with favorable outcome and translocations t(5;12)(q31-q33;p12), t(9;12) (p24;p13), t(12.21)(p13;q22) (see AML1), t(6;12)(q23;p13), (see STL)
tumoral fusion translocation    
fused with FGFR3 in t(4;12) (p16;p13) in peripheral T-cell lymphoma
tumoral fusion translocation    
fused with TTLM in t(12;13)(p13;q14) in lymphoblastic leukemia, with FRK in t(6;12) (q21;p13) in myelogenous leukemia
tumoral   translocation    
myelodysplasia and myeloproliferative disorders with translocation t(3;12)(q26;p13), t(1;12)(p36;p13), (1;12)(p13 or q31;p13) (14;12) (q11;p13) t(12;22) (p13;q11), t(12;15) (p13;q25), t(12;13)(p13-q12)
tumoral   translocation    
in acute myeloid leukemia (AML-M2) with translocation t(1;12) (q21;p13), t(7;12)(q36;p13) in myeloid malignancy with poor prognosis, in congenital fibrosarcoma (CFS), in congenital mesoblastic nephroma and in biphenotypic adult leukemia (BIPL)
tumoral fusion      
ETV6/PTPRR in acute myelogenous leukemia with inv(12)(p13q13)
tumoral fusion translocation    
ETV6/FLT3 (EF) fusion proteins in a patient with myeloproliferative disorder (MPD) and a t(12;13)(p13;q12) translocation (Vu 2009)
tumoral fusion      
ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome (Struski 2008)
tumoral somatic mutation      
in early immature human T cell leukemias
tumoral fusion      
fusion of ETV6 and BAZ2A, in pre-B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
miscelleaneousvascular 
potential targets for the development of therapeutic strategies to inhibit pathological angiogenesis
ANIMAL & CELL MODELS