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MFNG

Synonyms
-
External resources
Summary
This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer.

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
62
Likely pathogenic
0
VUS
1,234
Likely benign
25
Benign
0

Patient phenotypes

Proportions of phenotypes among 62 patients carring pathogenic or likely pathogenic variants on MFNG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.9%
Abnormality of the eye
25.8%
Abnormality of the musculoskeletal system
19.4%
Abnormality of the cardiovascular system
16.1%
Abnormality of head or neck
8.1%
Abnormality of the digestive system
8.1%
Abnormality of the ear
8.1%
Abnormality of limbs
6.5%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the integument
4.8%
Abnormality of the respiratory system
4.8%
Growth abnormality
4.8%
Abnormality of the genitourinary system
3.2%
Abnormality of the immune system
3.2%
Abnormality of prenatal development or birth
1.6%
Abnormality of the endocrine system
1.6%
Neoplasm
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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