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Gene Symbol RUNX1
Synonyms AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpha
Gene Description RUNX1, RUNX family transcription factor 1, is a transcription factor that binds to core binding factor beta (CBFB) and plays a role in hematopoiesis (PMID: 22150309, PMID: 23180629). Germline inactivating mutations in RUNX1 are common in familial platelet disorder with predisposition to leukemia (PMID: 32024352) and mutations and translocations have been implicated in several other hematologic cancers (PMID: 22150309, PMID: 30289875), including acute myeloid leukemia (PMID: 32208489) and the RUNX1-ETV6 fusion is common in pediatric B-cell acute leukemia (PMID: 32024352), while RUNX1 functions as an oncogene in T-cell leukemia (PMID: 32024352) and overexpression may associate with decreased survival in renal call carcinoma (PMID: 32156779).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
861 21 21q22.12 NM_001001890 Both: Oncogene and Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
fusion fusion unknown RUNX1 fusion indicates a fusion of the RUNX1 gene, but the fusion partner is unknown.
inact mut unknown loss of function RUNX1 inact mut indicates that this variant results in a loss of function of the Runx1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown RUNX1 mutant indicates an unspecified mutation in the RUNX1 gene.
rearrange unknown unknown RUNX1 rearrange indicates an unspecified rearrangement of the RUNX1 gene.
A122fs frameshift loss of function - predicted RUNX1 A122fs results in a change in the amino acid sequence of the Runx1 protein beginning at 122 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, A122fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
C72fs frameshift loss of function - predicted RUNX1 C72fs results in a change in the amino acid sequence of the Runx1 protein beginning at 72 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, C72fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
G143fs frameshift loss of function - predicted RUNX1 G143fs results in a change in the amino acid sequence of the Runx1 protein beginning at 143 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, G143fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
R135fs frameshift loss of function - predicted RUNX1 R135fs results in a change in the amino acid sequence of the Runx1 protein beginning at 135 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, R135fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S291fs frameshift loss of function - predicted RUNX1 S291fs results in a change in the amino acid sequence of the Runx1 protein beginning at aa 291 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). S291fs has not been biochemically characterized, but is predicted to confer a loss of function to the Runx1 protein as indicated by failure to induce myeloid differentiation in culture (PMID: 23979164).