CHRM4
cholinergic receptor muscarinic 4, the group of Cholinergic receptors muscarinic
Basic information
Region (hg38): 11:46383789-46391776
Links
Phenotypes
GenCC
Source:
No genCC data.
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 CHRM4 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 | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 0 |
Variants in CHRM4
This is a list of pathogenic ClinVar variants found in the CHRM4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-46385275-C-T | not specified | Uncertain significance (Sep 06, 2022) | ||
| 11-46385306-C-T | not specified | Uncertain significance (Aug 09, 2021) | ||
| 11-46385418-G-C | not specified | Uncertain significance (Oct 14, 2023) | ||
| 11-46385458-A-G | not specified | Uncertain significance (Mar 18, 2024) | ||
| 11-46385467-G-T | not specified | Uncertain significance (Feb 27, 2023) | ||
| 11-46385470-G-A | not specified | Uncertain significance (Nov 30, 2021) | ||
| 11-46385492-C-T | not specified | Uncertain significance (Sep 06, 2022) | ||
| 11-46385509-C-T | not specified | Uncertain significance (Dec 27, 2022) | ||
| 11-46385512-G-C | not specified | Uncertain significance (Jun 23, 2023) | ||
| 11-46385705-G-A | not specified | Uncertain significance (Jan 09, 2024) | ||
| 11-46385740-T-G | not specified | Uncertain significance (Jul 19, 2023) | ||
| 11-46385765-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
| 11-46385771-C-T | not specified | Uncertain significance (May 01, 2024) | ||
| 11-46385836-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
| 11-46385864-C-T | not specified | Uncertain significance (Apr 07, 2023) | ||
| 11-46386022-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 11-46386034-A-G | not specified | Uncertain significance (Jul 17, 2023) | ||
| 11-46386251-C-T | not specified | Uncertain significance (Jan 04, 2024) | ||
| 11-46386469-A-G | not specified | Uncertain significance (May 07, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CHRM4 | protein_coding | protein_coding | ENST00000433765 | 1 | 1468 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.974 | 0.0256 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.73 | 179 | 316 | 0.567 | 0.0000220 | 3081 |
| Missense in Polyphen | 41 | 133.13 | 0.30796 | 1421 | ||
| Synonymous | -0.577 | 149 | 140 | 1.06 | 0.0000105 | 1051 |
| Loss of Function | 3.11 | 0 | 11.3 | 0.00 | 5.87e-7 | 120 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase.;
- Pathway
- Regulation of actin cytoskeleton - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Regulation of Actin Cytoskeleton;Calcium Regulation in the Cardiac Cell;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;Muscarinic acetylcholine receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- 0.102
- rvis_EVS
- -0.96
- rvis_percentile_EVS
- 9.09
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.786
- ghis
- 0.588
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.194
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Chrm4
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- signal transduction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;G protein-coupled acetylcholine receptor signaling pathway;chemical synaptic transmission;cell population proliferation;regulation of locomotion;G protein-coupled serotonin receptor signaling pathway
- Cellular component
- plasma membrane;integral component of plasma membrane;cell junction;dendrite;postsynaptic membrane
- Molecular function
- G protein-coupled receptor activity;G protein-coupled serotonin receptor activity;G protein-coupled acetylcholine receptor activity;neurotransmitter receptor activity