Gene
PET117
PET117 cytochrome c oxidase chaperone
- HGNC 40045↗(opens in a new tab)
- Ensembl gene ENSG00000232838↗(opens in a new tab)
- NCBI Gene 100303755↗(opens in a new tab)
Summary
- Cytogenetic location
- 20p11.23
- Coordinates
- Chromosome 20: 18,137,863–18,143,169 (GRCh38)
- Exons
- 2 exons across 5.3 kb
- Protein
- 81 amino acids
- Also known as
- CSRP2BP
- MANE Select transcript
- ENST00000432901.4NM_001164811.2
- 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/pet117.json"
page <- fromJSON(url)
page$gene$nameRead PET117, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads PET117 yet. The test sequences your whole genome, so your data includes it all the same.
How PET117 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 1.2 kb of the gene's 5.3 kb; 246 of those bases code for the protein.
Sequencing PET117
1
position in PET117 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 5.3 kb of PET117, introns included, not only the 1.2 kb of exons.
Traits linked to PET117
The Human Phenotype Ontology lists these as features of the rare conditions PET117 can cause. Each trait's page lists the other genes linked to it.
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 Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). PET117 gene: PET117 cytochrome c oxidase chaperone. Retrieved 17 October 2026, from https://dantelabs.com/genes/pet117
Dante Labs. PET117 gene: PET117 cytochrome c oxidase chaperone [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pet117
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks