AZGP1

alpha-2-glycoprotein 1, zinc-binding, the group of C1-set domain containing

Basic information

Region (hg38): 7:99966720-99976042

Links

ENSG00000160862 ∙ NCBI:563 ∙ OMIM:194460 ∙ HGNC:910 ∙ Uniprot:P25311 ∙ 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 AZGP1 gene.

• not_specified (41 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AZGP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001185.4. 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				3	1	4
missense			37	5		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	8	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AZGP1	protein_coding	protein_coding	ENST00000292401	4	9438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000415	0.396	125691	0	57	125748	0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.566	194	173	1.12	0.00000994	1945
Missense in Polyphen		50	46.841	1.0674		620
Synonymous	-0.0569	72	71.4	1.01	0.00000440	567
Loss of Function	0.451	9	10.6	0.850	4.50e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000930	0.000930
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.000381	0.000381
South Asian	0.000392	0.000392
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids.
• Pathway: Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.328
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.0599
• hipred: N
• hipred_score: 0.123
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.762

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Azgp1
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: detection of chemical stimulus involved in sensory perception of bitter taste;retina homeostasis;immune response;cell adhesion;negative regulation of cell population proliferation;transmembrane transport;protein transmembrane transport;RNA phosphodiester bond hydrolysis
• Cellular component: extracellular region;extracellular space;nucleus;plasma membrane;external side of plasma membrane;collagen-containing extracellular matrix;extracellular exosome
• Molecular function: ribonuclease activity;protein binding;protein transmembrane transporter activity