OXSR1
Basic information
Region (hg38): 3:38165089-38255484
Previous symbols: [ "OSR1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (35 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OXSR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005109.3. 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 | 1 | |||||
| missense | 35 | 35 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 35 | 1 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| OXSR1 | protein_coding | protein_coding | ENST00000311806 | 18 | 90400 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.774 | 0.226 | 125727 | 0 | 14 | 125741 | 0.0000557 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.60 | 151 | 272 | 0.556 | 0.0000132 | 3407 |
| Missense in Polyphen | 29 | 89.436 | 0.32425 | 1129 | ||
| Synonymous | -0.758 | 104 | 94.6 | 1.10 | 0.00000467 | 1015 |
| Loss of Function | 4.45 | 7 | 35.7 | 0.196 | 0.00000190 | 410 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000668 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.0000891 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000696 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202). {ECO:0000269|PubMed:14707132, ECO:0000269|PubMed:16389068, ECO:0000269|PubMed:22052202, ECO:0000269|PubMed:28688764}.;
- Pathway
- Diuretics Pathway, Pharmacodynamics
(Consensus)
Recessive Scores
- pRec
- 0.144
Intolerance Scores
- loftool
- 0.505
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 32.94
Haploinsufficiency Scores
- pHI
- 0.526
- hipred
- Y
- hipred_score
- 0.717
- ghis
- 0.572
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.979
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Oxsr1
- Phenotype
- homeostasis/metabolism phenotype; immune system phenotype; renal/urinary 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); hematopoietic system phenotype;
Gene ontology
- Biological process
- protein phosphorylation;response to oxidative stress;osmosensory signaling pathway;positive regulation of T cell chemotaxis;peptidyl-threonine phosphorylation;signal transduction by protein phosphorylation;signal transduction by trans-phosphorylation;stress-activated protein kinase signaling cascade;activation of protein kinase activity;intracellular signal transduction;chemokine (C-C motif) ligand 21 signaling pathway;chemokine (C-X-C motif) ligand 12 signaling pathway;protein autophosphorylation;cellular hypotonic response;negative regulation of potassium ion transmembrane transporter activity;cellular response to chemokine
- Cellular component
- cytoplasm;cytosol;extracellular exosome
- Molecular function
- magnesium ion binding;protein serine/threonine kinase activity;protein binding;ATP binding;protein kinase binding;identical protein binding