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CASP8

Synonyms
ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5
External resources
Summary
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
0
VUS
7,925
Likely benign
1,802
Benign
880

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on CASP8 gene are displayed below.

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

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