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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 12.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_014623.4	NP_055438.1	4	yes	-
ENST00000244711.4	ENSP00000244711.3	4	yes	-
NM_001318942.1	NP_001305871.1	3	-	-
NM_001318943.1	NP_001305872.1	3	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MEA1 gene.

• not_specified (33 variants)
• not_provided (2 variants)
• PPP2R5D-related_disorder (1 variants)

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. These statistics are base on transcript: NM_014623.4. 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			34			34
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	38	0	0

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
		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

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

Gene ontology

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