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DHPS

Synonyms
DHS, DS, MIG13, NEDSSWI
External resources
Summary
This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
117
Likely pathogenic
0
VUS
2,887
Likely benign
657
Benign
0

Patient phenotypes

Proportions of phenotypes among 46 patients carrying pathogenic or likely pathogenic variants on DHPS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.6%
Abnormality of head or neck
21.7%
Abnormality of the musculoskeletal system
19.6%
Growth abnormality
15.2%
Abnormality of blood and blood-forming tissues
10.9%
Abnormality of the eye
8.7%
Abnormality of the cardiovascular system
6.5%
Abnormality of the ear
6.5%
Abnormality of the immune system
6.5%
Abnormality of limbs
4.3%
Abnormality of the integument
4.3%
Abnormality of the breast
2.2%
Abnormality of the digestive system
2.2%
Abnormality of the endocrine system
2.2%
Abnormality of the genitourinary system
2.2%
Neoplasm
2.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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