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

The protein encoded by RUNX1 can bind the protein encoded by CBFB to form "Core Binding Factor", a heterodimeric transcription factor, which can bind to DNA as a monomer and through the Runt domain within the Runx1 protein. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia.

Common Alteration Types

Fusions wiht RUNX1T1

ETV6

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

1. Kamikubo, Y. (2018). Genetic compensation of RUNX family transcription factors in leukemia. Cancer Sci. (online version ahead of publication). PMID 29883054 doi.org/10.1111/cas.13664

2. Bellissimo, D.C. and Speck, N. A. (2017). RUNX1 Mutations in Inherited and Sporadic Leukemia. Front Cell Dev. Biol. 5: 111- PMID 29326930 10.3389/fcell.2017.00111

Notes

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