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.

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.

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				1		1
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in MEDAG

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

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

Position	Type	Phenotype	Significance	ClinVar
13-30906553-G-A		not specified	Uncertain significance (Nov 09, 2023)
13-30906588-C-A		not specified	Uncertain significance (Dec 13, 2022)
13-30906706-C-G		not specified	Uncertain significance (Jan 03, 2024)
13-30906740-C-A		not specified	Uncertain significance (Jan 17, 2024)
13-30906741-G-T		not specified	Uncertain significance (Mar 25, 2024)
13-30906748-T-A		not specified	Uncertain significance (May 15, 2023)
13-30906759-G-A		not specified	Uncertain significance (Jul 30, 2023)
13-30917428-G-T		not specified	Uncertain significance (Dec 09, 2023)
13-30921020-C-A		not specified	Uncertain significance (Dec 20, 2023)
13-30921021-G-A			Likely benign (Nov 01, 2022)
13-30921025-G-A		not specified	Uncertain significance (Feb 28, 2024)
13-30921026-C-T		not specified	Uncertain significance (Jan 24, 2024)
13-30921038-A-T		not specified	Uncertain significance (May 27, 2022)
13-30921104-T-C		not specified	Uncertain significance (Feb 10, 2022)
13-30921636-G-T		not specified	Uncertain significance (Mar 21, 2023)
13-30921681-T-C		not specified	Uncertain significance (Jan 19, 2024)
13-30921699-G-A		not specified	Likely benign (Oct 05, 2023)
13-30921709-T-C		not specified	Uncertain significance (Jul 21, 2021)
13-30921745-C-T		not specified	Uncertain significance (Nov 29, 2023)
13-30921792-C-G		not specified	Uncertain significance (Aug 10, 2021)
13-30921809-C-A		not specified	Uncertain significance (Aug 13, 2021)
13-30924334-T-C		not specified	Uncertain significance (Apr 26, 2024)

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