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Table 1 Gene fusions surrounding the RB1 locus at 13q14.1-q21.3

From: Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

Fusion

5′ gene partner

5′ gene partner coordinates (GRCh38), exon

Cytoband

3′ gene partner

3′ gene partner coordinates (GRCh38), exon

Cytoband

RB1-SIAH3

RB1 (NM_000321)

chr13:48,381,443, exon 17

13q14.2

SIAH3 (NM_198849)

chr13:45,784,057, exon 2

13q14.13

ZC3H13-KLHL1

ZC3H13 (NM_001076788)

chr13:46,003,139, exon 8

13q14.13

KLHL1 (NM_020866)

chr13:69,975,802, exon 2

13q21.33

DLEU1-DNAJC12

DLEU1 (NR_109974)

chr13:50,433,550, exon 4

13q14.3

DNAJC12 (NM_021800)

chr10:67,823,392, exon 2

10q21.3

RBP3-TPT1

RBP3 (NM_002900)

chr10:47,349,271, exon 1

10q11.22

TPT1 (NM_003295)

chr13:45,341,148, exon 1

13q14.13

  1. RB1, RB Transcriptional Corepressor 1; SIAH3, Siah E3 Ubiquitin Protein Ligase Family Member 3; ZC3H13, Zinc Finger CCCH-Type Containing 13; KLHL1, Kelch-like 1 gene; DLEU1, Deleted In Lymphocytic Leukemia 1; DNAJC12, DnaJ Heat Shock Protein Family (Hsp40) Member C12; RBP3, Retinol Binding Protein 3; TPT1, Tumor Protein, Translationally-Controlled 1