Overview

Location [1]
2q33.1
Pathway
RNA splicing
Synonyms [1]
PRPF10, MDS, SF3b155, SAP155, Hsh155, PRP10

Splicing factor 3b, subunit 1, 155kDa (SF3B1) is a gene that codes for part of the splicing factor 3b protein complex, splicing factor 3B subunit 1 (Gene 2014). The complex is a member of the spliceosome and is involved in transcription and mRNA processing (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).

Significance of SF3B1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Secondary Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Lymphoma +

Multiple Myeloma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Neoplasm +

Prolymphocytic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

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 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.