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Gene ETV6 RUNX1
Variant ETV6 - RUNX1
Impact List fusion
Protein Effect gain of function
Gene Variant Descriptions ETV6-RUNX1 results from the fusion of ETV6 and RUNX1, which leads to altered transcriptional regulation resulting in preleukemic cells (PMID: 17325341) and demonstrates upregulation of EPOR, leading to increased cell survival (PMID: 21900195).
Associated Drug Resistance

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ETV6 - RUNX1 gain of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 - RUNX1 acute lymphoblastic leukemia not applicable Copanlisib Preclinical - Cell culture Emerging In a preclinical study, knockout of ETV6-RUNX1 in acute lymphocytic leukemia cells combined with Aliqopa (copanlisib) resulted in greater decreased cell viability and phosphorylation of Akt and Mtor compared to knockdown alone in culture (PMID: 31952221). 31952221
ETV6 - RUNX1 acute lymphoblastic leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, the ETV6-RUNX1 fusion was associated with a favorable prognosis in acute lymphocytic leukemia patients (PMID: 8609706, PMID: 10086740, PMID: 11432885, Guidelines). 11432885 detail... 8609706 10086740
ETV6 - RUNX1 acute lymphoblastic leukemia not applicable N/A Clinical Study Diagnostic ETV6-RUNX1 is used in the diagnosis of acute lymphocytic leukemia (PMID: 26711002, PMID: 15704129, PMID: 8609706, Guidelines). 15704129 8609706 detail... 26711002