OXT
oxytocin/neurophysin I prepropeptide, the group of Neuropeptides
Basic information
Region (hg38): 20:3071619-3072517
Previous symbols: [ "OT" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (3 variants)
- not provided (1 variants)
- Neurodevelopmental disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OXT 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 | 3 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 1 | 1 | ||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 4 | 0 | 0 |
Variants in OXT
This is a list of pathogenic ClinVar variants found in the OXT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-3071650-C-CGCACCATGGCCG | Neurodevelopmental disorder | Uncertain significance (Jan 01, 2019) | ||
| 20-3071681-G-T | not specified | Uncertain significance (Jul 20, 2021) | ||
| 20-3072099-G-A | not specified | Uncertain significance (Mar 16, 2022) | ||
| 20-3072246-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
| 20-3072358-T-C | Benign (Dec 31, 2019) | |||
| 20-3072363-A-G | not specified | Uncertain significance (Oct 27, 2022) | ||
| 20-3072364-C-G | not specified | Uncertain significance (Dec 27, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| OXT | protein_coding | protein_coding | ENST00000217386 | 3 | 898 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.712 | 0.275 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.787 | 54 | 72.9 | 0.741 | 0.00000359 | 775 |
| Missense in Polyphen | 15 | 28.888 | 0.51925 | 334 | ||
| Synonymous | 1.28 | 24 | 33.4 | 0.719 | 0.00000180 | 250 |
| Loss of Function | 1.88 | 0 | 4.10 | 0.00 | 1.74e-7 | 52 |
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: Neurophysin 1 specifically binds oxytocin.;
- Pathway
- Oxytocin signaling pathway - Homo sapiens (human);Myometrial Relaxation and Contraction Pathways;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Vasopressin-like receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.345
Haploinsufficiency Scores
- pHI
- 0.0892
- hipred
- Y
- hipred_score
- 0.547
- ghis
- 0.506
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.724
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Oxt
- Phenotype
- endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive 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); 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); 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); digestive/alimentary phenotype;
Zebrafish Information Network
- Gene name
- oxt
- Affected structure
- vH ionocyte
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- response to amphetamine;regulation of heart rate;maternal aggressive behavior;signal transduction;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;heart development;female pregnancy;memory;grooming behavior;response to sucrose;regulation of signaling receptor activity;positive regulation of norepinephrine secretion;response to activity;sleep;response to food;positive regulation of prostaglandin secretion;response to estradiol;response to retinoic acid;response to progesterone;response to prostaglandin E;social behavior;negative regulation of urine volume;positive regulation of renal sodium excretion;response to cocaine;hyperosmotic salinity response;maternal behavior;sperm ejaculation;eating behavior;drinking behavior;response to peptide hormone;response to ether;negative regulation of blood pressure;positive regulation of blood pressure;positive regulation of ossification;positive regulation of female receptivity;positive regulation of synaptic transmission;response to glucocorticoid;response to cAMP;response to electrical stimulus;regulation of sensory perception of pain;positive regulation of synapse assembly;male mating behavior;positive regulation of penile erection;positive regulation of hindgut contraction;negative regulation of gastric acid secretion;positive regulation of uterine smooth muscle contraction;positive regulation of cold-induced thermogenesis
- Cellular component
- extracellular region;extracellular space;secretory granule;terminal bouton
- Molecular function
- neurohypophyseal hormone activity;oxytocin receptor binding