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HUS1

Synonyms
hHUS1
External resources
Summary
The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. 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
13
Likely pathogenic
0
VUS
18,145
Likely benign
4,175
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on HUS1 gene are displayed below. The following symptoms were found in patients with a variant in HUS1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of head or neck
30.8%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the ear
23.1%
Abnormality of the genitourinary system
23.1%
Abnormality of the eye
15.4%
Growth abnormality
15.4%
Abnormality of limbs
7.7%
Abnormality of metabolism homeostasis
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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