Gene Location [1]
Chromatin remodeling/DNA methylation

ASXL1 Mutation is present in 2.62% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with ASXL1 Mutation

Significance of ASXL1 Mutation in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Secondary Acute Myeloid Leukemia +

Multiple Myeloma +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Therapy-Related Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Myelofibrosis +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Myelodysplastic Syndrome +

Therapy-Related Myelodysplastic Syndrome +

B-Cell Non-Hodgkin Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Primary Myelofibrosis +

Chronic Myelomonocytic Leukemia-1 +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Chronic Myelomonocytic Leukemia-2 +

Myeloproliferative Neoplasm +

Melanoma +

Leukemia +

Acute Leukemia +

Refractory Anemia With Excess Blasts +

Chronic Myelomonocytic Leukemia-0 +

Myelodysplastic Syndrome With Excess Blasts-2 +

Bladder Carcinoma +

Polycythemia Vera +

Colorectal Carcinoma +

Anaplastic Astrocytoma +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Carcinoma +

Malignant Solid Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Mixed Phenotype Acute Leukemia +

Diffuse Large B-Cell Lymphoma +

Ovarian Carcinoma +

Mature T-Cell And NK-Cell Neoplasm +

Breast Carcinoma +

T-Cell Non-Hodgkin Lymphoma +

Indolent Non-Hodgkin Lymphoma +

Lymphoma +

Sarcoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Mantle Cell Lymphoma +

Pancreatic Carcinoma +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

Aplastic Anemia +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Peripheral T-Cell Lymphoma +

Plasma Cell Leukemia +

Refractory Anemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Waldenstrom Macroglobulinemia +


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.