MEP1A

meprin A subunit alpha, the group of Astacins

Basic information

Region (hg38): 6:46793389-46839778

Links

ENSG00000112818 ∙ NCBI:4224 ∙ OMIM:600388 ∙ HGNC:7015 ∙ Uniprot:Q16819 ∙ 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 MEP1A gene.

• not_specified (99 variants)
• not_provided (2 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEP1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005588.3. 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				2		2
missense			95	5		100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEP1A	protein_coding	protein_coding	ENST00000230588	14	46389

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.15e-13	0.879	125694	0	54	125748	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.128	406	413	0.982	0.0000221	4944
Missense in Polyphen		143	161.38	0.88612		1983
Synonymous	-1.20	181	162	1.12	0.00000980	1362
Loss of Function	1.96	25	38.0	0.658	0.00000185	432

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000361	0.000361
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000219	0.000217
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000249	0.000246
Middle Eastern	0.000219	0.000217
South Asian	0.000277	0.000261
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Protein digestion and absorption - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.147

Intolerance Scores

• loftool: 0.626
• rvis_EVS: 1.34
• rvis_percentile_EVS: 94.29

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.294

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.565

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mep1a
• Phenotype: immune system phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; reproductive system phenotype; hematopoietic system phenotype; digestive/alimentary phenotype

Zebrafish Information Network

• Gene name: mep1a.1
• Affected structure: pericardium
• Phenotype tag: abnormal
• Phenotype quality: dilated

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular space;integral component of plasma membrane;meprin A complex;extracellular exosome
• Molecular function: metalloendopeptidase activity;protein binding;zinc ion binding