Location [1]
Protein [2]
Transcription factor ETV6
Synonyms [1]

The gene ets variant 6 (ETV6) encodes for the transcription factor ETV6 protein. ETV6 is a DNA-binding protein involved in transcription regulation during embryonic development and hematopoiesis (Gene 2014Genetics Home Reference 2014). ETV6 variants—rearrangements, in particular—have been observed in myelodysplastic syndromes, other hematologic malignancies, and sarcomas.​

ETV6 is altered in 2.26% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, prostate adenocarcinoma, and acute myeloid leukemia having the greatest prevalence of alterations [3].

ETV6 GENIE Cases - Top Diseases

The most common alterations in ETV6 are ETV6 Mutation (0.95%), ETV6 Amplification (0.51%), ETV6 Fusion (0.24%), ETV6 Loss (0.22%), and ETV6-NTRK3 Fusion (0.13%) [3].

ETV6 GENIE Cases - Top Alterations

Significance of ETV6 in Diseases

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Secondary Acute Myeloid Leukemia +

Malignant Solid Tumor +

Congenital Mesoblastic Nephroma +

Infantile Fibrosarcoma +

Myelodysplastic Syndromes +

Non-Hodgkin Lymphoma +

Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Hodgkin Lymphoma +

Secretory Breast Carcinoma +

Acute Undifferentiated Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Central Nervous System Neoplasm +

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Chronic Myeloid Leukemia +

Juvenile Myelomonocytic Leukemia +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.