MFNG

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, the group of Beta 3-glycosyltransferases

Basic information

Region (hg38): 22:37469063-37486393

Links

ENSG00000100060

∙ NCBI:4242 ∙ OMIM:602577 ∙ HGNC:7038 ∙ Uniprot:O00587 ∙ 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 MFNG gene.

not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFNG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002405.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			43 clinvar			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFNG	protein_coding	protein_coding	ENST00000356998	8	17339

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.66e-10	0.0786	125641	2	99	125742	0.000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.301	187	199	0.940	0.0000123	2061
Missense in Polyphen		67	82.808	0.8091		942
Synonymous	0.0257	86	86.3	0.996	0.00000538	675
Loss of Function	-0.0102	14	14.0	1.00	5.95e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00165	0.00162
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000387	0.000369
Middle Eastern	0.000163	0.000163
South Asian	0.000132	0.000131
Other	0.000817	0.000815

dbNSFP

Source: dbNSFP

Function: FUNCTION: Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (PubMed:10935626). Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). {ECO:0000250|UniProtKB:O09008, ECO:0000269|PubMed:10935626}.;
Pathway: Other types of O-glycan biosynthesis - Homo sapiens (human);Notch signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);NOTCH-Ncore;Notch Signaling Pathway;Notch Signaling Pathway;Notch;Signal Transduction;Notch;Pre-NOTCH Processing in Golgi;Pre-NOTCH Expression and Processing;Signaling by NOTCH (Consensus)

Recessive Scores

pRec: 0.105

Intolerance Scores

loftool: 0.716
rvis_EVS: -0.42
rvis_percentile_EVS: 25.56

Haploinsufficiency Scores

pHI: 0.420
hipred: Y
hipred_score: 0.545
ghis: 0.645

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.683

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mfng
Phenotype: limbs/digits/tail phenotype; immune system phenotype; skeleton phenotype; embryo phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: blastocyst formation;marginal zone B cell differentiation;pattern specification process;regulation of Notch signaling pathway;positive regulation of protein binding;protein O-linked fucosylation;positive regulation of Notch signaling pathway
Cellular component: extracellular space;integral component of Golgi membrane
Molecular function: acetylglucosaminyltransferase activity;O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity;metal ion binding