Gene
TRUB2
TruB pseudouridine synthase family member 2
- HGNC 17170↗(opens in a new tab)
- Ensembl gene ENSG00000167112↗(opens in a new tab)
- NCBI Gene 26995↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.11
- Coordinates
- Chromosome 9: 128,305,159–128,322,447 (GRCh38)
- Exons
- 8 exons across 17.3 kb
- Protein
- 331 amino acids
- Also known as
- CLONE24922
- MANE Select transcript
- ENST00000372890.6NM_015679.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/trub2.json"
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No Genome Test report reads TRUB2 yet. The test sequences your whole genome, so your data includes it all the same.
How TRUB2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 17.3 kb; 996 of those bases code for the protein.
Sequencing TRUB2
2Easy
How hard TRUB2 is to sequence with short reads, out of 100
0 · Easy100 · Hard
Almost all of TRUB2's exons sit where short reads map cleanly.
What adds to it: the share of TRUB2's exons in each kind of hard region
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.1.1%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.5.9%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.4.1%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scoredEach bar is the share of TRUB2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
1
position in TRUB2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 17.3 kb of TRUB2, introns included, not only the 5.4 kb of exons.
ClinVar pathogenic variants (1)
The TRUB2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Likely pathogenic 1
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_016035.5(COQ4):c.202+4A>C (opens in a new tab) | neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- Data release 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). TRUB2 gene: TruB pseudouridine synthase family member 2. Retrieved 18 October 2026, from https://dantelabs.com/genes/trub2
Dante Labs. TRUB2 gene: TruB pseudouridine synthase family member 2 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/trub2
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