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NPIPA3::NPIPA2

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 NPIPA3::NPIPA2 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 16.2 kb apart chr16 NPIPA3 (+) ENST00000531598 · Ensembl canonical 14,726,162 breakpoint 14,703,411 14,726,342 10 exons · 22.9 kb chr16 NPIPA2 (+) ENST00000529166 · Ensembl canonical 14,765,157 breakpoint 14,742,533 14,765,462 10 exons · 22.9 kb
Canonical transcripts shown in genomic order on chr16 (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.

Left hand (primary)

Reportable 11 fragments (3 split, 8 discordant) · NPIPA3 exon 7 → NPIPA2 exon 4
All 2 candidate breakpoints in this sample
Breakpoint (up)Breakpoint (down)TypeJunction TotalSplit RealignedDiscordant
chr16:14,723,299 chr16:14,755,192 DEL KNOWN/KNOWN 11 3 0 8
chr16:14,720,076 chr16:14,758,966 DEL UNKNOWN/UNKNOWN 3 1 0 2

Lung metastasis

Reportable 58 fragments (49 split, 9 discordant) · NPIPA3 exon 10 → NPIPA2 exon 10
All 4 candidate breakpoints in this sample
Breakpoint (up)Breakpoint (down)TypeJunction TotalSplit RealignedDiscordant
chr16:14,726,162 chr16:14,765,157 DEL UNKNOWN/UNKNOWN 58 49 0 9
chr16:14,726,231 chr16:14,765,157 DEL UNKNOWN/UNKNOWN 25 5 0 20
chr16:14,726,167 chr16:14,765,231 DEL UNKNOWN/UNKNOWN 3 3 0 0
chr16:14,724,354 chr16:14,762,373 DEL CANONICAL/CANONICAL 2 1 0 1

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