SP140

Overview

SP140 encodes a lymphoid-restricted homolog of the nuclear body protein SP100. It contains a bromodomain and a PHD finger, suggesting roles in chromatin regulation and transcriptional control. SP140 has been identified as a candidate tumor suppressor in multiple myeloma, where missense, frameshift, and splice-site mutations occur with accompanying loss of heterozygosity.

Alterations observed in the corpus

  • Missense, frameshift, and splice-site alterations in 8 patients in a multiple myeloma (MM) genomic cohort, with 2 cases showing LOH; classified as a candidate tumor suppressor due to lymphoid-restricted expression pattern (SP100 homolog) PMID:24434212

Cancer types (linked)

  • MM: recurrently mutated (8 patients) with LOH in 2 cases in a comprehensive MM genomic analysis PMID:24434212

Co-occurrence and mutual exclusivity

  • No specific co-mutation exclusivity relationships reported in this corpus.

Therapeutic relevance

  • Bromodomain-containing protein; bromodomain inhibitors may be indirectly relevant but no direct targeting reported in this corpus.

Open questions

  • Functional validation of SP140 as a tumor suppressor in MM is lacking; the mechanism by which SP140 loss promotes myeloma pathogenesis is undefined.

Sources

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