Gene
DPH5
diphthamide biosynthesis 5
- HGNC 24270↗(opens in a new tab)
- Ensembl gene ENSG00000117543↗(opens in a new tab)
- NCBI Gene 51611↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p21.2
- Coordinates
- Chromosome 1: 100,989,623–101,025,784 (GRCh38)
- Exons
- 8 exons across 36.2 kb
- Protein
- 285 amino acids
- Also known as
- CGI-30
- MANE Select transcript
- ENST00000370109.8NM_015958.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads DPH5 yet. The test sequences your whole genome, so your data includes it all the same.
How DPH5 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- 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 1.8 kb of the gene's 36.2 kb; 858 of those bases code for the protein.
How a genome test reads DPH5
2
positions in DPH5 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 36.2 kb of DPH5, introns included, not only the 1.8 kb of exons.
Traits linked to DPH5
The Human Phenotype Ontology lists these as features of the rare conditions DPH5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Global developmental delay
- IQ less than 20
- Cerebral palsy
- Grand mal seizures
- Brain degeneration
- Cerebellar vermis hypoplasia
- Difficulty sleeping
Show 3 more traits
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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DPH5 gene: diphthamide biosynthesis 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/dph5
Dante Labs. DPH5 gene: diphthamide biosynthesis 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dph5
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