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NCKIPSD

Synonyms
AF3P21, DIP, DIP1, ORF1, SPIN90, VIP54, WASLBP, WISH
External resources
Summary
The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene.

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
9
Likely pathogenic
0
VUS
7,578
Likely benign
83
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on NCKIPSD gene are displayed below. The following symptoms were found in patients with a variant in NCKIPSD. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the ear
22.2%
Abnormality of head or neck
11.1%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the respiratory system
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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