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MUS81

Synonyms
SLX3
External resources
Summary
This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks.

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
21
Likely pathogenic
0
VUS
3,585
Likely benign
354
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on MUS81 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
52.4%
Abnormality of head or neck
38.1%
Abnormality of the musculoskeletal system
38.1%
Abnormality of the nervous system
33.3%
Abnormality of the eye
28.6%
Abnormality of the cardiovascular system
19%
Abnormality of the integument
19%
Growth abnormality
14.3%
Abnormality of limbs
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the digestive system
4.8%
Abnormality of the immune system
4.8%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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