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ST7L

Synonyms
FAM4B, ST7R, STLR
External resources
Summary
This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized.

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
6
Likely pathogenic
0
VUS
4,238
Likely benign
80
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on ST7L gene are displayed below. The following symptoms were found in patients with a variant in ST7L. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of limbs
66.7%
Abnormality of the musculoskeletal system
66.7%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
16.7%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of the integument
16.7%
Constitutional symptom
16.7%
Growth abnormality
16.7%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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