CDKAL1

Overview

CDKAL1 (CDK5 regulatory subunit associated protein 1-like 1) encodes a tRNA methylthiotransferase involved in translational fidelity. Germline variants in CDKAL1 are associated with type 2 diabetes risk. In SCLC, CDKAL1 harbors clustered chromosomal breakpoints on chromosome 6, identifying it as a recurrently rearranged locus in this cancer type.

Alterations observed in the corpus

  • Clustered chromosomal breakpoints on chromosome 6 in SCLC (110-tumor WGS cohort); identified alongside TTC28 (chromosome 22) as genes with recurrent structural variation in SCLC PMID:26168399

Cancer types (linked)

  • SCLC: recurrent chromosomal breakpoints at the CDKAL1 locus; functional consequences for SCLC biology not characterized PMID:26168399

Co-occurrence and mutual exclusivity

  • Co-occurs with TTC28 (chromosome 22 breakpoints) as recurrently rearranged chromosomal loci in SCLC PMID:26168399

Therapeutic relevance

  • No direct therapeutic associations identified in this corpus.

Open questions

  • Whether CDKAL1 chromosomal breakpoints disrupt gene function or activate regulatory elements in SCLC remains unknown PMID:26168399

Sources

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