MOG

myelin oligodendrocyte glycoprotein, the group of V-set domain containing|Butyrophilins

Basic information

Region (hg38): 6:29657001-29672372

Links

ENSG00000204655 ∙ NCBI:4340 ∙ OMIM:159465 ∙ HGNC:7197 ∙ Uniprot:Q16653 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• narcolepsy 7 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Narcolepsy 7	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	21907016

ClinVar

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

• Inborn genetic diseases (8 variants)
• not provided (3 variants)
• Narcolepsy 7 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOG 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				1		1
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					3	3
Total	0	0	8	1	3

Variants in MOG

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

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

Position	Type	Phenotype	Significance	ClinVar
6-29657307-G-GT		Narcolepsy 7	Benign (Sep 25, 2018)
6-29659348-C-A		not specified	Uncertain significance (Jun 12, 2023)
6-29659361-T-C		not specified	Uncertain significance (Dec 12, 2023)
6-29659393-A-G		not specified	Uncertain significance (Aug 17, 2021)
6-29659411-G-A		not specified	Uncertain significance (Mar 29, 2023)
6-29659426-G-A		not specified	Uncertain significance (Feb 28, 2023)
6-29659441-C-G		not specified	Uncertain significance (Apr 08, 2022)
6-29659536-A-G		MOG-related disorder	Likely benign (Feb 14, 2020)
6-29659574-G-A		not specified	Uncertain significance (Dec 13, 2023)
6-29659619-G-A		not specified	Uncertain significance (Jul 20, 2021)
6-29659628-C-G		Narcolepsy 7	Pathogenic (Sep 09, 2011)
6-29666226-G-C		MOG-related disorder	Benign (Oct 28, 2019)
6-29666235-A-G		MOG-related disorder	Benign (Oct 17, 2019)
6-29667916-G-A		not specified	Uncertain significance (May 17, 2023)
6-29670324-T-A			Uncertain significance (-)
6-29670324-T-C			Likely benign (Nov 01, 2022)
6-29670386-G-A		not specified	Uncertain significance (Dec 11, 2023)
6-29670786-A-G		MOG-related disorder	Likely benign (May 15, 2020)
6-29670862-ACTC-A		MOG-related disorder	Benign (Apr 21, 2020)
6-29672244-T-C			Benign (Jun 19, 2021)
6-29672289-AAAAT-A			Benign (Jun 19, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOG	protein_coding	protein_coding	ENST00000376898	8	15392

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.137	0.859	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.513	121	138	0.877	0.00000792	1602
Missense in Polyphen		50	57.719	0.86626		647
Synonymous	0.239	51	53.2	0.958	0.00000270	526
Loss of Function	2.52	4	14.3	0.280	7.63e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000470	0.000453
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000176
Middle Eastern	0.000109	0.000109
South Asian	0.0000658	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell- cell communication. {ECO:0000250}.

Intolerance Scores

• loftool: 0.988
• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.62

Haploinsufficiency Scores

• pHI: 0.473
• hipred: N
• hipred_score: 0.435
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.600

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mog
• Phenotype: immune system phenotype; vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; muscle phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: cell adhesion;central nervous system development;viral entry into host cell;regulation of immune response;T cell receptor signaling pathway
• Cellular component: plasma membrane;external side of plasma membrane;integral component of membrane
• Molecular function: virus receptor activity;signaling receptor binding