Home > Gene Browser > MPHOSPH10

MPHOSPH10

Synonyms
CT90, MPP10, MPP10P, PPP1R106
External resources
Summary
This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing.

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
26
Likely pathogenic
0
VUS
2,240
Likely benign
216
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on MPHOSPH10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
26.9%
Abnormality of the nervous system
26.9%
Abnormality of the cardiovascular system
23.1%
Abnormality of the digestive system
19.2%
Abnormality of the eye
19.2%
Abnormality of the musculoskeletal system
15.4%
Abnormality of the endocrine system
11.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the immune system
11.5%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of head or neck
7.7%
Abnormality of prenatal development or birth
7.7%
Growth abnormality
7.7%
Abnormality of the integument
3.8%
Neoplasm
3.8%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes