ADIG

adipogenin

Basic information

Region (hg38): 20:38581195-38588463

Links

ENSG00000182035 ∙ NCBI:149685 ∙ OMIM:611396 ∙ HGNC:28606 ∙ Uniprot:Q0VDE8 ∙ 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 ADIG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADIG 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	8	1	0

Variants in ADIG

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

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

Position	Type	Phenotype	Significance	ClinVar
20-38581270-C-T		not specified	Uncertain significance (Aug 01, 2022)
20-38581288-C-A		not specified	Uncertain significance (Dec 28, 2022)
20-38581320-C-T		not specified	Uncertain significance (Jan 04, 2024)
20-38581357-G-A		not specified	Uncertain significance (Aug 04, 2021)
20-38581364-A-T		not specified	Uncertain significance (Dec 21, 2023)
20-38581365-C-T		not specified	Uncertain significance (May 23, 2023)
20-38586049-A-C		not specified	Uncertain significance (Sep 22, 2023)
20-38586134-G-A		not specified	Uncertain significance (Sep 01, 2021)
20-38588437-A-G			Likely benign (Sep 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in stimulating adipocyte differentiation and development. {ECO:0000250|UniProtKB:Q8R400}.

Intolerance Scores

• loftool: 0.487
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.226
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adig
• Phenotype: endocrine/exocrine gland phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; limbs/digits/tail phenotype; skeleton phenotype

Gene ontology

• Biological process: spermatogenesis;positive regulation of fat cell differentiation;white fat cell differentiation;brown fat cell differentiation
• Cellular component: nucleus;cytoplasm;lipid droplet;integral component of membrane