| Entrez Gene ID | 861 |
|---|---|
| Official Gene Symbol | RUNX1 (GeneCards) |
| Full name | runt related transcription factor 1 |
| Location | 21q22.12 |
| Other ids | Vega : OTTHUMG00000086299 MIM : 151385 HGNC : HGNC:10471 Ensembl : ENSG00000159216 |
| Other names | AML1, CBFA2, EVI-1, AMLCR1, PEBP2aB, CBF2alpha, AML1-EVI-1, PEBP2alpha |
| Summary | 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] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21585 | 861 | RUNX1 | 21 | 36400589 | 36400589 | Asymptomatic | HiSeq X Ten |
| 21592 | 861 | RUNX1 | 21 | 36501958 | 36501958 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 28700 | 861 | RUNX1 | 21 | 36392807 | 36392807 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |