MPEG1

macrophage expressed 1

Basic information

Region (hg38): 11:59208510-59212927

Links

ENSG00000197629 ∙ NCBI:219972 ∙ OMIM:610390 ∙ HGNC:29619 ∙ Uniprot:Q2M385 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• immunodeficiency 77 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Immunodeficiency 77	AD	Allergy/Immunology/Infectious	Individuals have been described with recurrent and severe polymicrobial infections, including involving with unusual organisms, and awareness may allow preventative measures and early and aggressive management of infections and related sequelae (eg, treatment with gamma-IFN has been suggested to be as a potentially effective therapeutic modality)	Allergy/Immunology/Infectious	28422754; 33224153

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MPEG1 gene.

• not_specified (99 variants)
• Immunodeficiency_77 (19 variants)
• not_provided (13 variants)
• MPEG1-related_disorder (2 variants)
• Primary_ciliary_dyskinesia_3 (1 variants)
• MPEG1-related_immunodeficiency (1 variants)
• Castleman-Kojima_disease (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPEG1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039396.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	4	3	8
missense	1		103	12		116
nonsense	1		4			5
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)						0
Total	2	0	110	16	3

Highest pathogenic variant AF is 0.000032836408

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPEG1	protein_coding	protein_coding	ENST00000361050	1	4442

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.59e-16	0.00287	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0528	390	387	1.01	0.0000214	4677
Missense in Polyphen		97	112.18	0.8647		1433
Synonymous	-2.21	199	163	1.22	0.00000986	1481
Loss of Function	-0.611	22	19.1	1.15	0.00000117	208

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Cell Cycle (Consensus)

Intolerance Scores

• loftool: 0.435
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.96

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.190
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.330

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mpeg1

Gene ontology

• Biological process: defense response to bacterium
• Cellular component: integral component of membrane