GLP1R
Basic information
Region (hg38): 6:39048781-39091303
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLP1R 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 | 8 | |||||
missense | 17 | 19 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 17 | 2 | 8 |
Variants in GLP1R
This is a list of pathogenic ClinVar variants found in the GLP1R region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-39048854-C-T | not specified | Uncertain significance (Sep 20, 2024) | ||
6-39048872-C-A | not specified | Uncertain significance (Sep 16, 2021) | ||
6-39048886-G-T | not specified | Uncertain significance (Oct 11, 2024) | ||
6-39048890-T-C | not specified | Uncertain significance (Jul 02, 2024) | ||
6-39056448-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
6-39056449-G-A | Benign (Mar 29, 2018) | |||
6-39056455-G-A | not specified | Uncertain significance (Oct 12, 2022) | ||
6-39056462-C-G | Benign (Jul 06, 2018) | |||
6-39057526-C-T | not specified | Uncertain significance (Aug 01, 2024) | ||
6-39057533-G-A | Benign (Feb 09, 2018) | |||
6-39057537-G-A | not specified | Uncertain significance (Jun 29, 2022) | ||
6-39057543-G-A | not specified | Uncertain significance (Aug 08, 2023) | ||
6-39065724-C-T | Benign (Jul 04, 2018) | |||
6-39065754-C-T | Benign (Feb 09, 2018) | |||
6-39065791-G-T | not specified | Uncertain significance (Sep 26, 2022) | ||
6-39066235-C-G | not specified | Uncertain significance (Aug 30, 2021) | ||
6-39066264-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
6-39066295-C-T | Likely benign (Jun 08, 2018) | |||
6-39072870-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
6-39072917-C-T | Benign (Jul 18, 2018) | |||
6-39072925-A-G | Benign (Aug 16, 2018) | |||
6-39073720-G-A | Likely benign (Sep 01, 2024) | |||
6-39073748-C-T | not specified | Uncertain significance (Sep 15, 2021) | ||
6-39073752-A-G | not specified | Uncertain significance (Aug 30, 2021) | ||
6-39078354-A-G | not specified | Uncertain significance (Oct 06, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GLP1R | protein_coding | protein_coding | ENST00000373256 | 13 | 38946 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.293 | 0.707 | 125732 | 0 | 15 | 125747 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.68 | 193 | 271 | 0.713 | 0.0000159 | 2991 |
Missense in Polyphen | 71 | 105.25 | 0.67461 | 1179 | ||
Synonymous | -1.06 | 129 | 115 | 1.13 | 0.00000719 | 898 |
Loss of Function | 3.90 | 7 | 30.1 | 0.233 | 0.00000154 | 303 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000615 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000464 | 0.0000462 |
European (Non-Finnish) | 0.0000970 | 0.0000967 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000663 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: G-protein coupled receptor for glucagon-like peptide 1 (GLP-1) (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Plays a role in regulating insulin secretion in response to GLP-1 (By similarity). {ECO:0000250|UniProtKB:O35659, ECO:0000269|PubMed:19861722, ECO:0000269|PubMed:26308095, ECO:0000269|PubMed:27196125, ECO:0000269|PubMed:28514449, ECO:0000269|PubMed:7517895, ECO:0000269|PubMed:8216285, ECO:0000269|PubMed:8405712}.;
- Pathway
- cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Insulin secretion - Homo sapiens (human);GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;Metabolism;G alpha (s) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Regulation of insulin secretion;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;Integration of energy metabolism;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.257
Intolerance Scores
- loftool
- 0.648
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63.57
Haploinsufficiency Scores
- pHI
- 0.127
- hipred
- Y
- hipred_score
- 0.646
- ghis
- 0.413
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.759
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Glp1r
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;positive regulation of cytosolic calcium ion concentration;learning or memory;regulation of heart contraction;cAMP-mediated signaling;positive regulation of blood pressure;regulation of insulin secretion;cellular response to glucagon stimulus;response to psychosocial stress
- Cellular component
- plasma membrane;integral component of plasma membrane;integral component of membrane
- Molecular function
- transmembrane signaling receptor activity;glucagon receptor activity;protein binding;G protein-coupled peptide receptor activity;peptide hormone binding;glucagon-like peptide 1 receptor activity