Overview

Location [1]
20q11.21
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Putative Polycomb group protein ASXL1
Synonyms [1]
BOPS, MDS

Additional sex combs like transcriptional regulator 1 (official symbol ASXL1) is a gene that encodes the putative Polycomb group protein ASXL1. Normal ASXL1 plays a role in embryonic development (Gene 2014). ASXL1 mutations are observed primarily in myelodysplastic syndromes, but they are also observed in colorectal and endometrial cancers (COSMIC).​

ASXL1 is altered in 4.03% of all cancers with colon adenocarcinoma, acute myeloid leukemia, myelodysplastic syndromes, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

ASXL1 GENIE Cases - Top Diseases

The most common alterations in ASXL1 are ASXL1 Mutation (4.47%), ASXL1 Frameshift (1.55%), ASXL1 G646Wfs*12 (0.82%), ASXL1 Amplification (0.68%), and ASXL1 Nonsense (0.57%) [3].

ASXL1 GENIE Cases - Top Alterations

Significance of ASXL1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Multiple Myeloma +

Secondary Acute Myeloid Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Chronic Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Myelofibrosis +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Secondary Myelodysplastic Syndrome +

Therapy-Related Myelodysplastic Syndrome +

Leukemia +

Myeloproliferative Neoplasm +

Melanoma +

Colorectal Carcinoma +

Peripheral T-Cell Lymphoma +

Bladder Carcinoma +

Anaplastic Astrocytoma +

T-Cell Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Glioblastoma +

Lymphoma +

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Ovarian Carcinoma +

Breast Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Aplastic Anemia +

Double-Hit Lymphoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Plasma Cell Leukemia +

Polycythemia Vera +

Primary Myelofibrosis +

Refractory Anemia +

Refractory Anemia With Excess Blasts +

Therapy-Related Chronic Myelomonocytic Leukemia +

Waldenstrom Macroglobulinemia +

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. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

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