RUNX1
Primary Author(s)*
Brian Davis, PhD
Synonyms
"Runt-related transcription factor 1"; "Acute Myeloid Leukemia 1 Protein"; AML1; ; "Core-Binding Factor Subunit Alpha-2"; CBF2 alpha; CBFA2; "Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit"; PEBP2aB; PEBP2 alpha; EVI-1; AML1-EVI-1; AMLCR1;
Genomic Location
Cytoband: 21q22.12
Genomic Coordinates:
chr21:36,160,098-37,376,965 [hg19]
chr21:34,787,801-36,004,667 [hg38]
Cancer Category/Type
Acute Myeloid Leukemia (AML); Chromic Myeloid Leukemia (CML)
Gene Overview
Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization
Common Alteration Types
Put your text here and/or fill in the table with an X where applicable
| 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
Put your text here
EXAMPLE Germline Cancer Predisposition Genes
External Links
Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.
EXAMPLES
RUNX1 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
RUNX1 by COSMIC - sequence information, expression, catalogue of mutations
RUNX1 by CIViC - general knowledge and evidence-based variant specific information
RUNX1 by St. Jude ProteinPaint mutational landscape and matched expression data.
RUNX1 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
RUNX1 by Cancer Index - gene, pathway, publication information matched to cancer type
RUNX1 by OncoKB - mutational landscape, mutation effect, variant classification
RUNX1 by NCBI - brief gene overview
RUNX1 by My Cancer Genome - brief gene overview
RUNX1 by UniProt - protein and molecular structure and function
RUNX1 by Pfam - gene and protein structure and function information
RUNX1 by GeneCards - general gene information and summaries
"RUNX1" by VOVD(3) - Leiden Open Variation Database
References
EXAMPLE Book
- 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.
EXAMPLE Journal Article
- Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
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.