SNCAIP
Overview
SNCAIP (synuclein alpha interacting protein) encodes a protein involved in dopamine regulation and synaptic function. In medulloblastoma, SNCAIP locus tandem duplications are the mechanism by which the adjacent PRDM6 gene is activated in Group 4 tumors, via super-enhancer hijacking.
Alterations observed in the corpus
- Group 4-restricted tandem duplications activate PRDM6 by repositioning a Group 4-specific super-enhancer into the PRDM6 TAD; SV breakpoints cluster near CTCF sites at the TAD boundary PMID:28726821
Cancer types (linked)
- Medulloblastoma (Group 4): SNCAIP tandem duplications are the most prevalent Group 4 driver event for PRDM6 activation (17% of Group 4) PMID:28726821
Co-occurrence and mutual exclusivity
- SNCAIP tandem duplications drive PRDM6 overexpression (≥20-fold in SV+ vs SV- cases, P=6.07×10⁻²⁴); the structural variant repositions a super-enhancer from the SNCAIP locus into the PRDM6 TAD PMID:28726821
Therapeutic relevance
- PRDM6 (activated by SNCAIP duplications) is nominated as a new actionable target in Group 3/4 medulloblastoma, but requires functional validation before clinical translation PMID:28726821
Open questions
- Oncogenic mechanism of PRDM6 methyltransferase activity and the downstream substrates affected by the SNCAIP-driven super-enhancer hijacking remain to be experimentally established PMID:28726821
Sources
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