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DPH3

Synonyms
DELGIP, DELGIP1, DESR1, DPH3A, KTI11, ZCSL2
External resources
Summary
This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
0
VUS
614
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on DPH3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the nervous system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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