Gene Report
Basic Info
Approved Symbol |
WBSCR17
|
Symbol Alias |
GALNTL3 |
Approved Name |
Williams-Beuren syndrome chromosome region 17 |
Location |
7q11.23 |
Position |
chr7:70597155-71178585, + |
External Links |
HGNC: 16347
Entrez Gene: 64409
Ensembl: ENSG00000185274
UCSC: uc003tvy.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by CNV |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 1)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 4)
Gene related KEGG pathways (count: 2)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa01100 |
Metabolic pathways |
237 |
|
hsa00512 |
Mucin type O-Glycan biosynthesis |
5 |
O-glycans are a class of glycans that modify serine or threo......
O-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The first GalNAc may be extended with sugars including galactose, N-acetylglucosamine, fucose, or sialic acid, but not mannose, glucose, or xylose. Depending on the sugars added, there are four common O-glycan core structures, cores 1 through 4, and an additional four, cores 5 though 8. Mucins are highly O-glycosylated glycoproteins ubiquitous in mucous secretions on cell surfaces and in body fluids. Mucin O-glycans can be branched, and many sugars or groups of sugars are antigenic. Important modifications of mucin O-glycans include O-acetylation of sialic acid and O-sulfation of galactose and N-acetylglucosamine.
More...
|
Genes shared at least 5 GO terms with WBSCR17 (count: 0)
Genes shared at least 2 KEGG pathways with WBSCR17 (count: 4)
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