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ING1

Synonyms
p24ING1c, p33, p33ING1, p33ING1b, p47, p47ING1a
External resources
Summary
This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.

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
10
Likely pathogenic
14
VUS
812
Likely benign
116
Benign
0

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on ING1 gene are displayed below. The following symptoms were found in patients with a variant in ING1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
69.6%
Abnormality of the nervous system
43.5%
Abnormality of head or neck
39.1%
Growth abnormality
39.1%
Abnormality of the eye
30.4%
Abnormality of limbs
21.7%
Abnormality of the genitourinary system
17.4%
Abnormality of metabolism homeostasis
13%
Abnormality of the cardiovascular system
8.7%
Abnormality of the digestive system
8.7%
Abnormality of the ear
4.3%
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 endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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