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.

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.

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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in ASGR1

This is a list of pathogenic ClinVar variants found in the ASGR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7173667-G-A		not specified	Uncertain significance (Feb 27, 2025)
17-7173714-C-A		not specified	Uncertain significance (May 02, 2024)
17-7173729-C-A		not specified	Uncertain significance (Jun 07, 2024)
17-7173808-C-A		not specified	Uncertain significance (Dec 03, 2021)
17-7173813-G-C		not specified	Uncertain significance (Jan 01, 2025)
17-7173974-C-T		not specified	Uncertain significance (May 20, 2024)
17-7174015-T-G		not specified	Uncertain significance (Dec 03, 2024)
17-7174047-T-C		not specified	Likely benign (Jul 11, 2023)
17-7174158-C-T		not specified	Uncertain significance (Feb 28, 2023)
17-7174174-G-C		not specified	Uncertain significance (Jul 21, 2021)
17-7174249-G-C		not specified	Uncertain significance (Jan 16, 2024)
17-7174266-C-G		not specified	Uncertain significance (Feb 27, 2023)
17-7174269-G-A		not specified	Uncertain significance (Apr 22, 2024)
17-7174382-T-C		not specified	Uncertain significance (Aug 04, 2024)
17-7174430-T-C		not specified	Uncertain significance (Jun 30, 2023)
17-7174439-T-A		not specified	Uncertain significance (Nov 13, 2024)
17-7176851-G-T		not specified	Uncertain significance (Oct 09, 2024)
17-7176876-C-G		not specified	Uncertain significance (Aug 05, 2024)
17-7176991-C-G		not specified	Uncertain significance (Sep 13, 2023)
17-7177073-G-T		not specified	Uncertain significance (Dec 11, 2023)
17-7177315-G-A		not specified	Uncertain significance (Jan 26, 2023)
17-7178548-G-C		not specified	Uncertain significance (Oct 03, 2022)

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