OXSR1

oxidative stress responsive kinase 1

Basic information

Region (hg38): 3:38165089-38255484

Previous symbols: [ "OSR1" ]

Links

ENSG00000172939 ∙ NCBI:9943 ∙ OMIM:604046 ∙ HGNC:8508 ∙ Uniprot:O95747 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OXSR1 gene.

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.

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				1		1
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in OXSR1

This is a list of pathogenic ClinVar variants found in the OXSR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-38190837-G-A		not specified	Uncertain significance (Jul 27, 2021)
3-38198769-A-G		not specified	Uncertain significance (Feb 28, 2024)
3-38198789-A-G			Likely benign (Oct 01, 2022)
3-38216097-G-A		not specified	Uncertain significance (Oct 20, 2023)
3-38223863-A-G		not specified	Uncertain significance (Feb 26, 2024)
3-38224604-T-C		not specified	Uncertain significance (Mar 16, 2022)
3-38224636-G-A		not specified	Uncertain significance (Jul 06, 2021)
3-38224637-C-A		not specified	Uncertain significance (Jul 06, 2021)
3-38236887-G-A		not specified	Uncertain significance (Sep 22, 2022)
3-38246135-C-T		not specified	Uncertain significance (Mar 12, 2024)
3-38246186-C-T		not specified	Uncertain significance (Mar 19, 2024)
3-38247708-C-A		not specified	Uncertain significance (Jun 03, 2024)
3-38251450-G-A		not specified	Uncertain significance (Aug 30, 2021)
3-38251453-G-A		not specified	Uncertain significance (Apr 04, 2023)
3-38252351-G-A		not specified	Uncertain significance (Sep 27, 2021)
3-38252824-G-A		not specified	Uncertain significance (Jun 16, 2023)
3-38252842-T-C		not specified	Uncertain significance (Jul 27, 2021)

GnomAD

Source: gnomAD

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: dbNSFP

• 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