RUNX1 Chromosome 21
RUNX family transcription factor 1
Upload your DNA to see your personal genotypes for variants in RUNX1.
What This Gene Does
Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Runt-related transcription factors
Locus Type
gene with protein product
Location
21q22.12
Ensembl
ENSG00000159216
Associated Conditions (24)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Acute myeloid leukemia
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Inborn genetic diseases
RUNX1-related disorder
Thrombocytopenia
Neoplasm
Abnormal bleeding
Pancytopenia
Clonal Cytopenia of Undetermined Significance
Uterine corpus endometrial carcinoma
Familial cancer of breast
Myelodysplasia
Thyroid cancer
nonmedullary
1
Atypical chronic myeloid leukemia
BCR-ABL1 negative
Abnormal platelet function
Inherited bleeding disorder
+4 more conditions
Key Variants
RS1057519749
Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
RS1057519750
Likely pathogenic
Acute myeloid leukemia, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
RS1057523598
Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Health Risk
RS1476276192
Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Health Risk
RS1476636108
Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, RUNX1-related disorder, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Health Risk
RS1555884790
Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Health Risk
RS1555884845
Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Health Risk
RS1555899735
Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
RS1569001972
Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
RS1569002077
Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
RS1569002159
Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
RS1569002296
Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Health Risk
All Variants (163)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517482498 | Health Risk | Pathogenic | RUNX1-related disorder, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, RUNX1-related disorder |
| RS2517483215 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS2517485238 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS2517486812 | Health Risk | Pathogenic | RUNX1-related disorder, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, RUNX1-related disorder |
| RS2517487922 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS2517488147 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Inborn genetic diseases |
| RS374341207 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS587776809 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS587776810 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS587776811 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS74315450 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS74315451 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| RS759068561 | Health Risk | Pathogenic | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Acute myeloid leukemia |