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ST6GALNAC1

Synonyms
HSY11339, SIAT7A, ST6GalNAcI, STYI
External resources
Summary
Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999

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
15
Likely pathogenic
0
VUS
4,002
Likely benign
474
Benign
0

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on ST6GALNAC1 gene are displayed below. The following symptoms were found in patients with a variant in ST6GALNAC1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
73.3%
Abnormality of head or neck
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the ear
26.7%
Abnormality of the eye
26.7%
Abnormality of limbs
13.3%
Abnormality of the integument
13.3%
Abnormality of the cardiovascular system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the genitourinary system
6.7%
Growth abnormality
6.7%
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 digestive 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%
Constitutional symptom
0%
Neoplasm
0%

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