Home > Gene Browser > DPH7

DPH7

Synonyms
C9orf112, RRT2, WDR85
External resources
Summary
Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide.

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
11
Likely pathogenic
0
VUS
5,322
Likely benign
27
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on DPH7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
27.3%
Abnormality of the eye
27.3%
Abnormality of the nervous system
27.3%
Abnormality of the ear
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of head or neck
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Neoplasm
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes