Home > Gene Browser > IK

IK

Synonyms
CSA2, RED, RER
External resources
Summary
The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2.

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
112
Likely pathogenic
172
VUS
9,637
Likely benign
624
Benign
0

Patient Phenotypes

Proportions of phenotypes among 282 patients carrying pathogenic or likely pathogenic variants on IK gene are displayed below. The following symptoms were found in patients with a variant in IK. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.2%
Abnormality of the eye
30.1%
Abnormality of the musculoskeletal system
29.8%
Abnormality of head or neck
20.9%
Abnormality of the cardiovascular system
15.2%
Abnormality of the ear
14.9%
Growth abnormality
11%
Abnormality of the genitourinary system
9.9%
Abnormality of limbs
8.5%
Abnormality of the immune system
7.8%
Abnormality of metabolism homeostasis
7.4%
Abnormality of the integument
6.7%
Abnormality of the digestive system
6%
Abnormality of blood and blood forming tissues
5%
Abnormality of the respiratory system
4.3%
Abnormality of the endocrine system
3.2%
Abnormality of prenatal development or birth
2.1%
Constitutional symptom
2.1%
Neoplasm
2.1%
Abnormal cellular phenotype
1.8%
Abnormality of the breast
1.1%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

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