ETV6

Primary Author(s)*

Brian Davis PhD

Synonyms

ETS Variant 6; TEL; THC5; TEL/ABL

Genomic Location

Cytoband: 12p13.2

Genomic Coordinates:

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chr12:11,802,788-12,048,336(GRCh37/hg19)

chr12:11,649,854-11,895,402(GRCh38/hg38)

Cancer Category/Type

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Gene Overview

The ETV6 gene encodes one of 29 proteins in the ETS family of transcription factors ( "ETS" is from "E26 transformation-specific" or "E-twenty-six"). The Protein Etvs6 contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. The protein is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. (addapted form NCBI Gene description).

Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3. Plays a role in hematopoiesis and malignant transformation.

Common Alteration Types

ETV6/PDGFRB fusion ETV6/MN1 fusion ETV6/AML1 fusion ETV6/ARNT fusion ETV6/MDS2 fusion ETV6/ABL2 fusion ETV6/PER1 fusion ETV6/NTRK3 fusion ETV6/ACS2 fusion ETV6/BTL fusion ETV6/JAK2 fusion ETV6/RUNX1 fusion

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

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EXAMPLE Germline Cancer Predisposition Genes

External Links

ETV6 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

ETV6 by COSMIC - sequence information, expression, catalogue of mutations

ETV6 by St. Jude ProteinPaint mutational landscape and matched expression data.

ETV6 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

ETV6 by Cancer Index - gene, pathway, publication information matched to cancer type

ETV6 by OncoKB - mutational landscape, mutation effect, variant classification

ETV6 by My Cancer Genome - brief gene overview

ETV6 by UniProt - protein and molecular structure and function

ETV6 by Pfam - gene and protein structure and function information

ETV6 by GeneCards - general gene information and summaries

ETV6 by NCBI Gene - general gene information and summaries

ETV6 by OMIM - compendium of human genes and genetic phenotypes

ETV6 by LOVD(3) - Leiden Open Variation Database

ETV6 by TICdb - database of Translocation breakpoints In Cancer

References

1 .Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.