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SEPTIN7::SEPTIN7P3

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 SEPTIN7::SEPTIN7P3 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 39.2 kb apart chr7 SEPTIN7 (+) ENST00000350320 · Ensembl canonical 35,904,260 breakpoint 35,801,057 35,907,110 14 exons · 106.1 kb chr7 SEPTIN7P3 (+) ENST00000455017 · Ensembl canonical 35,972,470 breakpoint 35,946,294 35,972,587 6 exons · 26.3 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.

Left hand (primary)

Reportable 41 fragments (1 split, 40 discordant) · SEPTIN7 exon 12 → SEPTIN7P3 exon 5

Lung metastasis

Reportable 123 fragments (1 split, 122 discordant) · SEPTIN7 exon 13 → SEPTIN7P3 exon 6
All 8 candidate breakpoints in this sample
Breakpoint (up)Breakpoint (down)TypeJunction TotalSplit RealignedDiscordant
chr7:35,904,260 chr7:35,972,470 DEL UNKNOWN/UNKNOWN 123 1 0 122
chr7:35,904,258 chr7:35,972,469 DEL UNKNOWN/UNKNOWN 121 1 0 120
chr7:35,903,122 chr7:35,966,487 DEL UNKNOWN/UNKNOWN 116 1 0 115
chr7:35,903,119 chr7:35,966,401 DEL CANONICAL/UNKNOWN 115 1 0 114
chr7:35,903,164 chr7:35,972,463 DEL UNKNOWN/UNKNOWN 91 1 0 90
chr7:35,903,101 chr7:35,966,488 DEL UNKNOWN/UNKNOWN 64 1 0 63
chr7:35,898,383 chr7:35,972,447 DEL KNOWN/KNOWN 59 30 0 29
chr7:35,903,098 chr7:35,966,491 DEL UNKNOWN/UNKNOWN 54 1 0 53

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