HRH1
histamine receptor H1, the group of Histamine receptors
Basic information
Region (hg38): 3:11137093-11263557
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 HRH1 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 | 12 | 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 | 12 | 0 | 4 |
Variants in HRH1
This is a list of pathogenic ClinVar variants found in the HRH1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-11259079-G-A | Benign (Jul 06, 2018) | |||
| 3-11259094-G-C | Benign (Jul 07, 2018) | |||
| 3-11259102-T-C | not specified | Uncertain significance (Nov 07, 2023) | ||
| 3-11259200-G-A | not specified | Uncertain significance (Jan 31, 2023) | ||
| 3-11259233-A-G | not specified | Uncertain significance (Aug 29, 2024) | ||
| 3-11259251-G-A | not specified | Uncertain significance (Apr 25, 2023) | ||
| 3-11259279-T-C | not specified | Uncertain significance (Feb 05, 2024) | ||
| 3-11259618-C-G | not specified | Uncertain significance (Feb 03, 2022) | ||
| 3-11259707-C-T | not specified | Uncertain significance (Feb 22, 2023) | ||
| 3-11259957-T-C | not specified | Uncertain significance (Aug 26, 2024) | ||
| 3-11260014-G-A | Benign (Aug 08, 2018) | |||
| 3-11260020-A-G | not specified | Uncertain significance (May 24, 2024) | ||
| 3-11260082-G-C | Benign (Jun 20, 2018) | |||
| 3-11260088-A-T | not specified | Uncertain significance (Oct 08, 2024) | ||
| 3-11260104-A-G | not specified | Uncertain significance (Mar 21, 2023) | ||
| 3-11260374-A-G | not specified | Uncertain significance (Oct 20, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HRH1 | protein_coding | protein_coding | ENST00000397056 | 1 | 126465 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000186 | 0.693 | 125730 | 0 | 17 | 125747 | 0.0000676 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.813 | 238 | 276 | 0.862 | 0.0000158 | 3206 |
| Missense in Polyphen | 76 | 101.64 | 0.74776 | 1207 | ||
| Synonymous | -0.610 | 118 | 110 | 1.07 | 0.00000624 | 966 |
| Loss of Function | 1.11 | 11 | 15.8 | 0.698 | 9.37e-7 | 171 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000181 | 0.000181 |
| Ashkenazi Jewish | 0.000199 | 0.000198 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000619 | 0.0000615 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.000489 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system.;
- Pathway
- Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);IL-4 Signaling Pathway;GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;Histamine receptors;Amine ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.144
Intolerance Scores
- loftool
- 0.609
- rvis_EVS
- 0.37
- rvis_percentile_EVS
- 75.43
Haploinsufficiency Scores
- pHI
- 0.130
- hipred
- N
- hipred_score
- 0.197
- ghis
- 0.439
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.508
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hrh1
- Phenotype
- adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism 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); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype;
Zebrafish Information Network
- Gene name
- hrh1
- Affected structure
- sleep
- Phenotype tag
- abnormal
- Phenotype quality
- behavioral quality of a process
Gene ontology
- Biological process
- inflammatory response;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;phospholipase C-activating G protein-coupled receptor signaling pathway;chemical synaptic transmission;memory;visual learning;positive regulation of inositol trisphosphate biosynthetic process;regulation of vascular permeability;positive regulation of vasoconstriction;inositol phosphate-mediated signaling;regulation of synaptic plasticity;eosinophil chemotaxis;cellular response to histamine;G protein-coupled serotonin receptor signaling pathway
- Cellular component
- cytosol;plasma membrane;integral component of plasma membrane;dendrite
- Molecular function
- G protein-coupled receptor activity;histamine receptor activity;G protein-coupled serotonin receptor activity;neurotransmitter receptor activity