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 4.65% of all cancers with colorectal adenocarcinoma, leukemia, non-small cell lung carcinoma, breast carcinoma, and myelodysplastic syndromes 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

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. 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.

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