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CIB1

Synonyms
CIB, CIBP, KIP1, PRKDCIP, SIP2-28
External resources
Summary
This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants.

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
14
Likely pathogenic
0
VUS
2,698
Likely benign
794
Benign
94

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on CIB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
44.4%
Abnormality of the nervous system
44.4%
Growth abnormality
44.4%
Abnormality of the eye
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Neoplasm
11.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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