APLNR
Basic information
Region (hg38): 11:57233577-57237250
Previous symbols: [ "AGTRL1" ]
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 APLNR 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 | 2 | |||||
missense | 24 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 24 | 3 | 1 |
Variants in APLNR
This is a list of pathogenic ClinVar variants found in the APLNR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-57236016-C-G | not specified | Uncertain significance (Jun 13, 2024) | ||
11-57236033-G-A | Likely benign (Jul 10, 2018) | |||
11-57236065-G-T | not specified | Uncertain significance (Mar 31, 2024) | ||
11-57236083-G-C | not specified | Uncertain significance (Nov 05, 2021) | ||
11-57236107-C-T | Benign (Feb 08, 2018) | |||
11-57236121-G-T | not specified | Uncertain significance (Jul 08, 2022) | ||
11-57236176-G-C | not specified | Uncertain significance (Apr 24, 2024) | ||
11-57236194-A-C | not specified | Uncertain significance (Sep 28, 2021) | ||
11-57236233-C-A | not specified | Uncertain significance (Jun 16, 2024) | ||
11-57236275-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
11-57236284-G-A | not specified | Uncertain significance (Oct 17, 2023) | ||
11-57236308-G-A | not specified | Uncertain significance (Dec 09, 2023) | ||
11-57236323-T-C | not specified | Uncertain significance (Jun 17, 2024) | ||
11-57236336-G-T | not specified | Uncertain significance (Dec 20, 2022) | ||
11-57236374-C-A | not specified | Uncertain significance (Mar 29, 2023) | ||
11-57236383-C-A | not specified | Uncertain significance (Jul 19, 2023) | ||
11-57236394-G-A | not specified | Uncertain significance (Dec 18, 2023) | ||
11-57236465-C-A | not specified | Uncertain significance (Jan 06, 2023) | ||
11-57236475-G-A | not specified | Uncertain significance (Oct 12, 2021) | ||
11-57236494-C-T | not specified | Uncertain significance (Dec 27, 2023) | ||
11-57236553-G-T | not specified | Uncertain significance (Oct 12, 2021) | ||
11-57236556-G-A | not specified | Uncertain significance (May 13, 2024) | ||
11-57236563-C-T | not specified | Uncertain significance (Jul 17, 2023) | ||
11-57236577-C-T | not specified | Uncertain significance (Jul 20, 2022) | ||
11-57236647-G-T | not specified | Uncertain significance (Oct 27, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
APLNR | protein_coding | protein_coding | ENST00000606794 | 1 | 3659 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.789 | 0.210 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.802 | 216 | 252 | 0.858 | 0.0000163 | 2487 |
Missense in Polyphen | 76 | 99.308 | 0.7653 | 967 | ||
Synonymous | -2.27 | 137 | 107 | 1.28 | 0.00000717 | 788 |
Loss of Function | 2.56 | 1 | 9.50 | 0.105 | 4.04e-7 | 108 |
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: Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (PubMed:11090199, PubMed:25639753, PubMed:28137936). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)- derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936). {ECO:0000250|UniProtKB:P79960, ECO:0000250|UniProtKB:Q7SZP9, ECO:0000250|UniProtKB:Q9WV08, ECO:0000269|PubMed:11090199, ECO:0000269|PubMed:25639753, ECO:0000269|PubMed:28137936}.;
- Pathway
- Apelin signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.191
Intolerance Scores
- loftool
- rvis_EVS
- -0.62
- rvis_percentile_EVS
- 17.31
Haploinsufficiency Scores
- pHI
- 0.130
- hipred
- N
- hipred_score
- 0.418
- ghis
- 0.498
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.146
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aplnr
- Phenotype
- growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory 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; 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);
Zebrafish Information Network
- Gene name
- aplnra
- Affected structure
- thoracic duct
- Phenotype tag
- abnormal
- Phenotype quality
- has fewer parts of type
Gene ontology
- Biological process
- angiogenesis;vasculogenesis;G protein-coupled receptor signaling pathway;gastrulation;heart development;adult heart development;negative regulation of cAMP-mediated signaling;positive regulation of angiogenesis;regulation of body fluid levels;positive regulation of release of sequestered calcium ion into cytosol;coronary vasculature development;positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;positive regulation of inhibitory G protein-coupled receptor phosphorylation
- Cellular component
- plasma membrane;integral component of plasma membrane
- Molecular function
- G protein-coupled receptor activity;signaling receptor activity