APLN
apelin, the group of Neuropeptides
Basic information
Region (hg38): X:129645259-129654956
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 APLN 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 | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 5 | |||||
| Total | 0 | 0 | 4 | 0 | 5 |
Variants in APLN
This is a list of pathogenic ClinVar variants found in the APLN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-129648435-C-G | Benign (Nov 10, 2018) | |||
| X-129648559-G-A | Benign (Jun 18, 2021) | |||
| X-129648658-G-A | not specified | Uncertain significance (Jul 20, 2022) | ||
| X-129648684-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
| X-129648697-A-G | not specified | Uncertain significance (Sep 04, 2024) | ||
| X-129648715-T-A | not specified | Uncertain significance (Apr 19, 2024) | ||
| X-129648771-T-C | not specified | Uncertain significance (Mar 20, 2023) | ||
| X-129654413-T-C | Benign (Nov 10, 2018) | |||
| X-129654584-G-T | not specified | Uncertain significance (Aug 23, 2021) | ||
| X-129654737-A-G | Benign (Nov 10, 2018) | |||
| X-129654944-A-G | Benign (Jun 18, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| APLN | protein_coding | protein_coding | ENST00000307484 | 2 | 9694 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.459 | 0.455 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.239 | 31 | 27.5 | 1.13 | 0.00000249 | 467 |
| Missense in Polyphen | 17 | 13.259 | 1.2821 | 189 | ||
| Synonymous | -0.400 | 13 | 11.3 | 1.15 | 9.04e-7 | 168 |
| Loss of Function | 1.16 | 0 | 1.57 | 0.00 | 1.00e-7 | 32 |
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: Endogenous ligand for the apelin receptor (APLNR) (PubMed:10525157). Drives internalization of the apelin receptor (By similarity). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Hormone involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early coronary blood vessels formation (By similarity). Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). May also have a role in the central control of body fluid homeostasis by influencing vasopressin release and drinking behavior (By similarity). {ECO:0000250|UniProtKB:Q4TTN8, ECO:0000250|UniProtKB:Q9R0R3, ECO:0000250|UniProtKB:Q9R0R4, ECO:0000269|PubMed:10525157}.;
- Pathway
- Apelin signaling pathway - Homo sapiens (human);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
- 0.0288
Haploinsufficiency Scores
- pHI
- 0.0117
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.450
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.00261
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Apln
- Phenotype
- homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye 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
- apln
- Affected structure
- lymph vessel endothelium
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- angiogenesis;regulation of the force of heart contraction;immune response;signal transduction;G protein-coupled receptor signaling pathway;gastrulation;lactation;regulation of signaling receptor activity;negative regulation of gene expression;positive regulation of heat generation;negative regulation of fibroblast growth factor receptor signaling pathway;positive regulation of phosphorylation;drinking behavior;regulation of respiratory gaseous exchange;negative regulation of blood pressure;positive regulation of heart contraction;negative regulation of vasoconstriction;positive regulation of corticotropin secretion;positive regulation of corticotropin-releasing hormone secretion;apelin receptor signaling pathway;coronary vasculature development;positive regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of G protein-coupled receptor internalization;negative regulation of vascular smooth muscle cell proliferation;positive regulation of vascular endothelial cell proliferation
- Cellular component
- extracellular region;extracellular space;perinuclear region of cytoplasm
- Molecular function
- signaling receptor binding;hormone activity;apelin receptor binding;protein homodimerization activity