Overview

Gene Location [1]
20q11.21
Pathway
Chromatin remodeling/DNA methylation
Gene
ASXL1

ASXL1 Mutation is present in 4.01% of AACR GENIE cases, with leukemia, colorectal adenocarcinoma, non-small cell lung carcinoma, myelodysplastic syndromes, and breast carcinoma having the greatest prevalence [4].

Top Disease Cases with ASXL1 Mutation

Significance of ASXL1 Mutation in Diseases

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Multiple Myeloma +

Myelofibrosis +

Malignant Solid Tumor +

Melanoma +

Colorectal Carcinoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Mantle Cell Lymphoma +

Diffuse Large B-Cell Lymphoma +

Peripheral T-Cell Lymphoma +

Non-Small Cell Lung Carcinoma +

Lymphoma +

Ovarian Carcinoma +

Non-Hodgkin Lymphoma +

Breast Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Double-Hit Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Plasma Cell Leukemia +

Refractory Anemia With Excess Blasts-2 +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.