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DPP3

Synonyms
DPPIII
External resources
Summary
This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene.

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
12
Likely pathogenic
0
VUS
2,446
Likely benign
339
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on DPP3 gene are displayed below. The following symptoms were found in patients with a variant in DPP3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the genitourinary system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the integument
25%
Abnormality of limbs
16.7%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the eye
16.7%
Abnormal cellular phenotype
8.3%
Abnormality of blood and blood forming tissues
8.3%
Abnormality of head or neck
8.3%
Abnormality of the cardiovascular system
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the ear
8.3%
Growth abnormality
8.3%
Neoplasm
8.3%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
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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