Overview

Gene Location [1]
2q33.1
Pathway
RNA splicing
Gene
SF3B1

SF3B1 Mutation is present in 2.46% of AACR GENIE cases, with breast carcinoma, melanoma, non-small cell lung carcinoma, colorectal adenocarcinoma, and leukemia having the greatest prevalence [4].

Top Disease Cases with SF3B1 Mutation

Significance of SF3B1 Mutation in Diseases

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Lymphoma +

Acute Lymphoblastic Leukemia +

Multiple Myeloma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Prolymphocytic 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.