MRC1
Basic information
Region (hg38): 10:17809348-17911164
Previous symbols: [ "MRC1L1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002438.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 0 | 2 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains.; FUNCTION: (Microbial infection) Acts as a receptor for Dengue virus envelope protein E. {ECO:0000269|PubMed:18266465}.;
- Pathway
- Phagosome - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Immune System;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Cross-presentation of soluble exogenous antigens (endosomes)
(Consensus)
Recessive Scores
- pRec
- 0.210
Haploinsufficiency Scores
- pHI
- 0.198
- hipred
- N
- hipred_score
- 0.431
- ghis
- 0.394
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.262
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mrc1
- Phenotype
- hematopoietic 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); reproductive system phenotype; immune system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- receptor-mediated endocytosis;viral entry into host cell;cellular response to lipopolysaccharide;cellular response to interferon-gamma;cellular response to interleukin-4
- Cellular component
- plasma membrane;integral component of plasma membrane;cell surface;endosome membrane
- Molecular function
- virus receptor activity;transmembrane signaling receptor activity;protein binding;mannose binding;cargo receptor activity