B3GNT8

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8, the group of Beta 3-glycosyltransferases

Basic information

Region (hg38): 19:41425359-41428730

Previous symbols: [ "B3GALT7" ]

Links

ENSG00000177191 ∙ NCBI:374907 ∙ OMIM:615357 ∙ HGNC:24139 ∙ Uniprot:Q7Z7M8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the B3GNT8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the B3GNT8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					6	6
missense			50	5	1	56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					5	5
Total	0	0	50	5	12

Variants in B3GNT8

This is a list of pathogenic ClinVar variants found in the B3GNT8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-41425549-A-AGGCCAGGGCCGG			Benign (Jul 09, 2018)
19-41425578-A-G			Benign (Jul 09, 2018)
19-41425598-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-41425613-T-C		not specified	Uncertain significance (Feb 06, 2023)
19-41425613-T-G		not specified	Uncertain significance (Dec 28, 2022)
19-41425626-G-A		not specified	Uncertain significance (Sep 08, 2024)
19-41425652-C-T		not specified	Uncertain significance (Nov 18, 2022)
19-41425662-G-T		not specified	Uncertain significance (Jan 17, 2024)
19-41425670-C-T		not specified	Uncertain significance (Oct 31, 2024)
19-41425695-G-A		not specified	Uncertain significance (Dec 17, 2023)
19-41425700-G-T		not specified	Uncertain significance (Jan 23, 2023)
19-41425716-G-A		not specified	Uncertain significance (Dec 20, 2023)
19-41425736-G-A		not specified	Uncertain significance (Aug 17, 2022)
19-41425737-G-A		not specified	Uncertain significance (Mar 04, 2024)
19-41425791-A-G		not specified	Uncertain significance (Dec 13, 2023)
19-41425802-C-T		not specified	Uncertain significance (Jul 27, 2021)
19-41425803-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-41425815-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-41425836-G-A		not specified	Uncertain significance (May 31, 2023)
19-41425839-C-T		not specified	Uncertain significance (Sep 01, 2021)
19-41425849-G-A			Benign (Aug 15, 2018)
19-41425907-T-C		not specified	Uncertain significance (Oct 07, 2024)
19-41425940-G-A		not specified	Uncertain significance (Dec 03, 2024)
19-41425946-G-A		not specified	Uncertain significance (Dec 27, 2022)
19-41425973-C-T		not specified	Likely benign (May 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
B3GNT8	protein_coding	protein_coding	ENST00000321702	1	3372

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.81e-9	0.118	125673	0	50	125723	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.221	250	260	0.961	0.0000176	2470
Missense in Polyphen		90	98.414	0.91451		1034
Synonymous	-1.07	130	115	1.13	0.00000742	931
Loss of Function	0.0931	13	13.4	0.973	9.31e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000608	0.000605
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000963	0.0000924
European (Non-Finnish)	0.000212	0.000202
Middle Eastern	0.000109	0.000109
South Asian	0.000233	0.000229
Other	0.000170	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans. {ECO:0000269|PubMed:15620693, ECO:0000269|PubMed:15917431}.
• Pathway: Post-translational protein modification;Metabolism of proteins;O-linked glycosylation of mucins;O-linked glycosylation (Consensus)

Intolerance Scores

• loftool: 0.671
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.27

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.170
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0972

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: B3gnt8

Gene ontology

• Biological process: protein glycosylation;O-glycan processing;poly-N-acetyllactosamine biosynthetic process
• Cellular component: Golgi membrane;endoplasmic reticulum;Golgi apparatus;integral component of membrane;extracellular exosome
• Molecular function: protein binding;acetylgalactosaminyltransferase activity;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;protein N-acetylglucosaminyltransferase activity