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UPK3B::PMS2P7

High support

Canonical-transcript structure of the two partner genes, and the read-level evidence supporting the fusion in each tumor sample.

Known studies

No published studies in the Mitelman database describe the UPK3B::PMS2P7 gene fusion. It may be novel, private to this case, or a technical artifact — absence from a curated database is not by itself evidence either way.

Canonical transcripts in genomic order spliced together in the fusion mRNA 3.49 Mb apart chr7 PMS2P7 (+) ENST00000506558 · Ensembl canonical 73,016,229 breakpoint 73,005,541 73,021,103 7 exons · 15.6 kb chr7 UPK3B (+) ENST00000334348 · Ensembl canonical 76,515,456 breakpoint 76,510,552 76,516,522 6 exons · 6.0 kb
Canonical transcripts shown in genomic order on chr7 (lower-coordinate gene on the left). Each gene is drawn at its own zoom level. Introns are compressed to 1% of their genomic length so the exons are easier to see — the pixel-space x-axis is therefore non-linear, but the labelled start and end coordinates of each transcript are exact. The gap shown between the two panels (when on the same chromosome) is the actual distance between gene bodies. Transcript IDs are MANE Select where available, else Ensembl_canonical, else the longest protein-coding transcript.

Lung metastasis

Reportable 46 fragments (36 split, 2 discordant)

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