SLC6A19

Overview

SLC6A19 encodes the B(0)AT1 neutral amino acid transporter (solute carrier family 6 member 19), located at chromosomal position 5p15.33 near TERT. In neuroblastoma, SLC6A19 was identified as a bystander gene markedly upregulated specifically in TERT-rearranged tumors, reflecting directional spread of the hijacked enhancer chromatin landscape caused by structural rearrangements upstream of TERT.

Alterations observed in the corpus

  • Distal neighbour of TERT at 5p15.33 that becomes markedly upregulated only in TERT-rearranged neuroblastoma tumors, reflecting directional spread of the hijacked enhancer chromatin landscape; not upregulated in MYCN-amplified or ATRX-mutant tumors PMID:26466568

Cancer types (linked)

  • NBL (neuroblastoma) — Expression upregulation is a consequence of TERT-rearrangement-driven enhancer hijacking; co-upregulated with SLC6A18 as a marker of the TERT-rearranged molecular subtype PMID:26466568

Co-occurrence and mutual exclusivity

  • Co-upregulated with SLC6A18 in TERT-rearranged neuroblastoma; CLPTM1L (proximal TERT neighbour) is notably not upregulated PMID:26466568

Therapeutic relevance

  • No direct therapeutic target; upregulation reflects the enhancer hijacking mechanism of TERT activation PMID:26466568

Open questions

  • Whether SLC6A19 upregulation is purely a bystander effect or contributes functionally to neuroblastoma biology is unknown PMID:26466568

Sources

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