MEDAG

mesenteric estrogen dependent adipogenesis

Basic information

Region (hg38): 13:30906271-30925572

Previous symbols: [ "C13orf33" ]

Links

ENSG00000102802 ∙ NCBI:84935 ∙ ∙ HGNC:25926 ∙ Uniprot:Q5VYS4 ∙ 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 MEDAG gene.

• not_specified (50 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEDAG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032849.4. 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				1		1
missense			48	2		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEDAG	protein_coding	protein_coding	ENST00000380482	5	19382

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000161	0.679	125644	1	103	125748	0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.433	166	151	1.10	0.00000758	1954
Missense in Polyphen		75	65.871	1.1386		898
Synonymous	1.33	46	59.0	0.780	0.00000289	574
Loss of Function	0.977	9	12.8	0.705	7.10e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000488	0.000425
Ashkenazi Jewish	0.00	0.00
East Asian	0.000658	0.000653
Finnish	0.000364	0.000323
European (Non-Finnish)	0.000562	0.000475
Middle Eastern	0.000658	0.000653
South Asian	0.000699	0.000653
Other	0.000818	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.397
• hipred: N
• hipred_score: 0.208
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Medag
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: positive regulation of fat cell differentiation
• Cellular component: cytoplasm