Overview

Gene Location [1]
20q11.21
Pathway
Chromatin remodeling/DNA methylation
Variant Type
Substitution - Nonsense
Gene
ASXL1

ASXL1 Nonsense is present in 0.51% of AACR GENIE cases, with leukemia, colorectal adenocarcinoma, myelodysplastic syndromes, non-small cell lung carcinoma, and myelofibrosis having the greatest prevalence [4].

Top Disease Cases with ASXL1 Nonsense

Significance of ASXL1 Nonsense in Diseases

Chronic Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Colorectal Carcinoma +

Bladder Carcinoma +

Head And Neck Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Lymphoma +

Malignant Solid Tumor +

Glioblastoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Sarcoma +

Anaplastic Astrocytoma +

Ovarian Carcinoma +

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.