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DCD

Synonyms
AIDD, DCD-1, DSEP, HCAP, PIF
External resources
Summary
This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
6
Likely pathogenic
9
VUS
1,941
Likely benign
571
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on DCD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the nervous system
53.3%
Abnormality of the eye
46.7%
Abnormality of the musculoskeletal system
46.7%
Abnormality of limbs
33.3%
Abnormality of the integument
26.7%
Abnormality of the digestive system
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
13.3%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the immune system
13.3%
Abnormality of the respiratory system
13.3%
Abnormality of the endocrine system
6.7%
Abnormality of the voice
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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