Location [1]
RNA splicing
Protein [2]
Splicing factor U2AF 35 kDa subunit
Synonyms [1]
RNU2AF1, RN, U2AF35, FP793, U2AFBP

U2 small nuclear RNA auxiliary factor 1 (U2AF1) is a gene that encodes for a member of the spliceosome, splicing factor U2AF 35 kDa subunit. This protein is part of the U2 auxiliary factor, which plays an important role in RNA splicing (Gene 2014). Spliceosome mutations are observed in MDS, chronic lymphocytic leukemia (CLL), AML, and chronic myelomonocytic leukemia (CMML), and these mutations can cause abnormal expression patterns of some genes involved in cancer pathogenesis (PMID: 23327988).

U2AF1 is altered in 1.50% of all cancers with lung adenocarcinoma, myelodysplastic syndromes, acute myeloid leukemia, colon adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

U2AF1 GENIE Cases - Top Diseases

The most common alterations in U2AF1 are U2AF1 Mutation (1.32%), U2AF1 Exon 2 Mutation (0.74%), U2AF1 Codon 34 Missense (0.67%), U2AF1 S34F (0.59%), and U2AF1 Exon 6 Mutation (0.34%) [3].

U2AF1 GENIE Cases - Top Alterations

Significance of U2AF1 in Diseases

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Secondary Acute Myeloid Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloid Neoplasm +

Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Therapy-Related Acute Myeloid Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +


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 8. 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.