OXT
Basic information
Region (hg38): 20:3071620-3072517
Previous symbols: [ "OT" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (10 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. These statistics are base on transcript: NM_000000915.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 10 | 0 | 0 |
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 | 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
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 |
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