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DPP6

Synonyms
DPL1, DPPX, MRD33, VF2
External resources
Summary
This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants.

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
4,213
Likely benign
8,200
Benign
5,469

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on DPP6 gene are displayed below. The following symptoms were found in patients with a variant in DPP6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the eye
60%
Abnormality of the musculoskeletal system
60%
Abnormality of the nervous system
60%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the genitourinary system
20%
Abnormality of the integument
20%
Neoplasm
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 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%
Growth abnormality
0%

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