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HACL1::COLQ

High support

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

Known studies

Recorded in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer in 1 publication (8 reported cases). Reported in: Nonneoplastic hematologic disorder/lesion; Nonneoplastic epithelial disorder/lesion.

Canonical transcripts in genomic order spliced together in the fusion mRNA 39.0 kb apart chr3 COLQ (-) ENST00000383788 · Ensembl canonical 15,489,637 breakpoint 15,450,133 15,521,706 17 exons · 71.6 kb chr3 HACL1 (-) ENST00000321169 · Ensembl canonical 15,563,358 breakpoint 15,560,699 15,601,569 17 exons · 40.9 kb
Canonical transcripts shown in genomic order on chr3 (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 59 fragments (27 split, 30 discordant) · HACL1 exon 16 → COLQ exon 2
All 2 candidate breakpoints in this sample
Breakpoint (up)Breakpoint (down)TypeJunction TotalSplit RealignedDiscordant
chr3:15,563,358 chr3:15,489,637 DEL KNOWN/KNOWN 59 27 2 30
chr3:15,563,358 chr3:15,502,765 DEL KNOWN/CANONICAL 1 1 0 0

Lung metastasis

Reportable 4 fragments (3 split, 1 discordant) · HACL1 exon 16 → COLQ exon 2

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