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VSIG1

Synonyms
1700062D20Rik, GPA34, dJ889N15.1
External resources
Summary
This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for 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
5
Likely pathogenic
0
VUS
655
Likely benign
55
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on VSIG1 gene are displayed below. The following symptoms were found in patients with a variant in VSIG1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of metabolism homeostasis
40%
Abnormality of the genitourinary system
40%
Abnormality of the nervous system
40%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the immune system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the respiratory system
20%
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 integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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