Overview

Location [1]
2q33.1
Pathway
RNA splicing
Protein [2]
Splicing factor 3B subunit 1
Synonyms [1]
PRPF10, SAP155, Hsh155, SF3b155, MDS, 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).

SF3B1 is altered in 2.59% of all cancers with breast carcinoma, melanoma, non-small cell lung carcinoma, colorectal adenocarcinoma, and leukemia having the greatest prevalence of alterations [3].

SF3B1 GENIE Cases - Top Diseases

The most common alterations in SF3B1 are SF3B1 Mutation (2.75%), SF3B1 Codon 700 Missense (0.51%), SF3B1 K700E (0.51%), SF3B1 Codon 625 Missense (0.26%), and SF3B1 Codon 666 Missense (0.17%) [3].

SF3B1 GENIE Cases - Top Alterations

Significance of SF3B1 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. 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.