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Symbol ETV6 contributors: mct - updated : 24-12-2013
HGNC name ets variant 6
HGNC id 3495
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
Variant & Polymorphism
Candidate gene
Therapy target
potential targets for the development of therapeutic strategies to inhibit pathological angiogenesis