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HIP1

Synonyms
HIP-I, ILWEQ, SHON, SHONbeta, SHONgamma
External resources
Summary
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants.

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
4
Likely pathogenic
42
VUS
14,346
Likely benign
5,791
Benign
0

Patient phenotypes

Proportions of phenotypes among 46 patients carrying pathogenic or likely pathogenic variants on HIP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
47.8%
Abnormality of the cardiovascular system
10.9%
Abnormality of the eye
10.9%
Abnormality of the musculoskeletal system
10.9%
Abnormality of the nervous system
10.9%
Abnormality of head or neck
6.5%
Abnormality of the ear
6.5%
Neoplasm
6.5%
Abnormality of the genitourinary system
4.3%
Abnormality of the immune system
4.3%
Constitutional symptom
4.3%
Growth abnormality
4.3%
Abnormality of limbs
2.2%
Abnormality of the digestive system
2.2%
Abnormal cellular phenotype
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 integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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