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.

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.

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						0
missense			31			31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	0	0

Variants in MFNG

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

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

Position	Type	Phenotype	Significance	ClinVar
22-37469997-T-C		not specified	Uncertain significance (Jun 11, 2024)
22-37472471-G-A		not specified	Uncertain significance (Jul 26, 2021)
22-37472476-T-C		not specified	Uncertain significance (Jan 09, 2024)
22-37472482-T-C		not specified	Uncertain significance (Sep 02, 2024)
22-37474571-G-A		not specified	Uncertain significance (Sep 30, 2024)
22-37474643-G-A		not specified	Uncertain significance (Dec 10, 2024)
22-37476897-T-A		not specified	Uncertain significance (Dec 22, 2023)
22-37476936-T-C		not specified	Uncertain significance (Apr 09, 2024)
22-37476950-C-A		not specified	Uncertain significance (Sep 05, 2024)
22-37479385-C-T		not specified	Uncertain significance (Aug 12, 2021)
22-37479409-T-C		not specified	Uncertain significance (Sep 14, 2022)
22-37479414-G-T		not specified	Uncertain significance (Aug 03, 2022)
22-37479416-C-T		not specified	Uncertain significance (Sep 01, 2024)
22-37479454-G-A		not specified	Uncertain significance (Jun 05, 2024)
22-37479460-G-T		not specified	Uncertain significance (Oct 23, 2024)
22-37479472-T-C		not specified	Uncertain significance (Jun 10, 2022)
22-37480251-G-A		not specified	Uncertain significance (Dec 20, 2021)
22-37480270-C-T		not specified	Uncertain significance (Jun 04, 2024)
22-37480764-A-C		not specified	Uncertain significance (Mar 10, 2025)
22-37485976-G-A		not specified	Uncertain significance (Feb 01, 2023)
22-37486023-T-C		not specified	Uncertain significance (Nov 07, 2023)
22-37486035-G-C		not specified	Uncertain significance (Sep 30, 2024)
22-37486047-G-A		not specified	Uncertain significance (Jul 05, 2024)
22-37486056-A-G		not specified	Uncertain significance (Feb 22, 2024)
22-37486077-C-T		not specified	Uncertain significance (Jan 23, 2023)

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