Associated Genetic Biomarkers
Associated Diseases

Overview

Gene Location [1]
21q22.12
Variant Type
Substitution - Missense
Affected Exon Number
4
Gene
RUNX1
Protein Domain [2]
Runt
SIFT Prediction [3]
Deleterious

RUNX1 R135K is present in 0.07% of AACR GENIE cases, with acute myeloid leukemia, myelodysplastic syndromes, acute myeloid leukemia with minimal differentiation, acute myelomonocytic leukemia, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with RUNX1 R135K

Significance of RUNX1 R135K in Diseases

Bladder Carcinoma +

Anaplastic Astrocytoma +

Breast Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Head And Neck Carcinoma +

Lymphoma +

Malignant Solid Tumor +

Melanoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Sarcoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.