| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 23451 |
Name | SF3B1 |
Synonymous | splicing factor 3b, subunit 1, 155kDa;SF3B1;splicing factor 3b, subunit 1, 155kDa |
Definition | SAP 155|pre-mRNA processing 10|pre-mRNA splicing factor SF3b, 155 kDa subunit|spliceosome-associated protein 155|splicing factor 3B subunit 1|splicing factor 3b, subunit 1, 155kD |
Position | 2q33.1 |
Gene type | protein-coding |
Title | Abstract |
| melanoma | PURPOSE: Somatic mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1 have been identified in uveal melanoma (UM). The aim of this study was to determine whether mutations in these genes in primary tumors were associated with metastases in individuals diagnosed with UM. METHODS: A total of 63 UM cases who developed a metastasis within 48 months of primary treatment and 53 UM controls who were metastasis-free over a similar time period were selected for the study. Primary UM cases were screened for mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1. The association of these mutations with tumor characteristics, chromosome 3 copy number, and metastatic status was analyzed by logistic regression to estimate the odds of developing metastasis within 48 months. RESULTS: As expected, tumor diameter, thickness, cilio-choroidal location, and chromosome 3 monosomy were all significantly (P < 0.02) associated with the presence of metastasis. In univariate analysis, GNA11 (odds ratio [OR] 2.5, 95% confidence interval [CI] 1.1-5.5) and BAP1 (OR 6.3, 95% |