ASGR1

asialoglycoprotein receptor 1, the group of C-type lectin domain containing

Basic information

Region (hg38): 17:7173431-7179564

Links

ENSG00000141505

∙ NCBI:432 ∙ OMIM:108360 ∙ HGNC:742 ∙ Uniprot:P07306 ∙ 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 ASGR1 gene.

not_specified (37 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASGR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001671.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			35 clinvar	2 clinvar		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ASGR1	protein_coding	protein_coding	ENST00000269299	8	6134

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.87e-15	0.00314	125683	0	65	125748	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.130	175	180	0.973	0.0000104	1913
Missense in Polyphen		51	61.759	0.8258		660
Synonymous	1.21	68	82.0	0.830	0.00000581	547
Loss of Function	-0.819	20	16.4	1.22	7.04e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000883	0.000881
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000163	0.000163
Finnish	0.0000962	0.0000924
European (Non-Finnish)	0.000215	0.000211
Middle Eastern	0.000163	0.000163
South Asian	0.000196	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface.;
Pathway: Thyroid hormone synthesis - Homo sapiens (human);Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Post-translational protein modification;Metabolism of proteins;Asparagine N-linked glycosylation (Consensus)

Recessive Scores

pRec: 0.385

Intolerance Scores

loftool: 0.812
rvis_EVS: -0.27
rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

pHI: 0.160
hipred: N
hipred_score: 0.131
ghis: 0.522

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.800

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Asgr1
Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: receptor-mediated endocytosis;viral process;protein N-linked glycosylation via asparagine;cellular response to extracellular stimulus
Cellular component: extracellular region;plasma membrane;integral component of plasma membrane
Molecular function: asialoglycoprotein receptor activity;protein binding;carbohydrate binding;protein homodimerization activity;metal ion binding