MEA1

male-enhanced antigen 1

Basic information

Region (hg38): 6:43011143-43016868

Previous symbols: [ "MEA" ]

Links

ENSG00000124733 ∙ NCBI:4201 ∙ OMIM:143170 ∙ HGNC:6986 ∙ Uniprot:Q16626 ∙ 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 MEA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEA1 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			19	11	1	31
Total	0	0	36	12	1

Variants in MEA1

This is a list of pathogenic ClinVar variants found in the MEA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-43011144-C-A		PPP2R5D-related disorder	Likely benign (Nov 03, 2024)
6-43011148-G-C			Uncertain significance (Mar 20, 2024)
6-43011150-T-C			Likely benign (Apr 20, 2024)
6-43011151-G-A			Uncertain significance (May 10, 2023)
6-43011171-A-G			Uncertain significance (Feb 15, 2024)
6-43011172-G-T		Inborn genetic diseases	Uncertain significance (Feb 20, 2025)
6-43011173-A-G			Uncertain significance (Feb 17, 2024)
6-43011175-A-G			Likely benign (Dec 04, 2022)
6-43011177-T-C			Uncertain significance (Apr 03, 2024)
6-43011185-C-T			Uncertain significance (Nov 27, 2023)
6-43011186-G-A			Uncertain significance (Nov 27, 2023)
6-43011195-C-T		not specified	Uncertain significance (Dec 20, 2023)
6-43011196-G-T			Likely benign (Mar 27, 2023)
6-43011199-G-C			Uncertain significance (Sep 23, 2024)
6-43011200-C-T			Likely benign (Apr 27, 2024)
6-43011205-C-G			Likely benign (Sep 28, 2023)
6-43011208-G-A			Likely benign (Oct 23, 2024)
6-43011211-C-T			Likely benign (Jun 04, 2024)
6-43011211-CG-C			Uncertain significance (May 26, 2024)
6-43011212-G-A			Conflicting classifications of pathogenicity (Jan 01, 2025)
6-43011215-T-TAC			Uncertain significance (Apr 17, 2023)
6-43011217-C-T			Likely benign (Aug 14, 2024)
6-43011230-C-G		Inborn genetic diseases	Uncertain significance (Feb 23, 2023)
6-43011230-C-T			Likely benign (Feb 22, 2024)
6-43011237-C-T			Uncertain significance (Apr 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEA1	protein_coding	protein_coding	ENST00000244711	4	1875

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000105	0.363	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.105	105	102	1.03	0.00000517	1191
Missense in Polyphen		20	24.689	0.81009		346
Synonymous	0.0839	38	38.7	0.983	0.00000196	374
Loss of Function	0.277	8	8.89	0.900	4.29e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000349	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in spermatogenesis and/or testis development.

Recessive Scores

• pRec: 0.278

Intolerance Scores

• loftool: 0.808
• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• pHI: 0.595
• hipred: N
• hipred_score: 0.325
• ghis: 0.501

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mea1

Gene ontology

• Biological process: spermatogenesis;male gonad development;cell differentiation
• Molecular function: protein binding