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MIB1

Synonyms
DIP-1, DIP1, LVNC7, MIB, ZZANK2, ZZZ6
External resources
Summary
This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1).

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
52
Likely pathogenic
2
VUS
1,247
Likely benign
1,301
Benign
1,976

Patient phenotypes

Proportions of phenotypes among 48 patients carrying pathogenic or likely pathogenic variants on MIB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.6%
Abnormality of the cardiovascular system
22.9%
Abnormality of the musculoskeletal system
20.8%
Abnormality of the genitourinary system
18.8%
Abnormality of head or neck
16.7%
Abnormality of the endocrine system
12.5%
Abnormality of the eye
12.5%
Growth abnormality
12.5%
Abnormality of the immune system
10.4%
Abnormality of the digestive system
8.3%
Abnormality of the ear
8.3%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of limbs
6.3%
Abnormality of prenatal development or birth
6.3%
Neoplasm
6.3%
Abnormality of the integument
4.2%
Abnormality of the respiratory system
4.2%
Abnormal cellular phenotype
2.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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