PLAUR

plasminogen activator, urokinase receptor, the group of CD molecules|LY6/PLAUR domain containing

Basic information

Region (hg38): 19:43646094-43670547

Links

ENSG00000011422 ∙ NCBI:5329 ∙ OMIM:173391 ∙ HGNC:9053 ∙ Uniprot:Q03405 ∙ 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 PLAUR gene.

• Inborn genetic diseases (14 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLAUR 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				3	1	4
missense			13	4		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding						0
Total	0	0	13	7	1

Variants in PLAUR

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

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

Position	Type	Phenotype	Significance	ClinVar
19-43648909-C-A		not specified	Uncertain significance (Oct 06, 2021)
19-43648936-A-C		not specified	Uncertain significance (Dec 12, 2023)
19-43649070-G-A			Likely benign (Mar 06, 2018)
19-43649096-T-C			Likely benign (Jan 01, 2023)
19-43652226-G-A			Likely benign (Jan 01, 2023)
19-43652235-G-A			Benign (Jun 10, 2018)
19-43652258-T-C		not specified	Uncertain significance (Jan 08, 2024)
19-43652339-G-A		not specified	Uncertain significance (Feb 03, 2022)
19-43652344-T-C		not specified	Uncertain significance (Aug 17, 2022)
19-43652368-A-G		not specified	Uncertain significance (Jan 16, 2024)
19-43655448-C-T		not specified	Uncertain significance (Oct 07, 2022)
19-43655510-T-C			Likely benign (Apr 20, 2018)
19-43655518-C-T			Likely benign (Dec 31, 2019)
19-43655547-G-A		not specified	Uncertain significance (Aug 17, 2021)
19-43655556-G-A		not specified	Uncertain significance (Oct 22, 2021)
19-43655570-C-T			Likely benign (Aug 01, 2018)
19-43665345-C-T		PLAUR-related disorder	Likely benign (Jul 28, 2023)
19-43665357-T-C		not specified	Uncertain significance (Jun 29, 2023)
19-43665358-C-T		not specified	Uncertain significance (Feb 24, 2022)
19-43665365-G-T		not specified	Uncertain significance (Sep 12, 2023)
19-43665387-C-G		not specified	Uncertain significance (Nov 17, 2023)
19-43665408-G-T		not specified	Uncertain significance (Nov 07, 2022)
19-43665450-T-A		not specified	Uncertain significance (Aug 13, 2021)
19-43665459-T-A		not specified	Uncertain significance (Dec 09, 2023)
19-43667626-G-C		not specified	Uncertain significance (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLAUR	protein_coding	protein_coding	ENST00000340093	7	24453

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00534	0.972	125031	0	716	125747	0.00285

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.406	192	208	0.921	0.0000123	2186
Missense in Polyphen		78	102.45	0.76138		1051
Synonymous	0.923	71	81.6	0.870	0.00000466	656
Loss of Function	2.00	6	14.1	0.426	6.75e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0129	0.0125
Ashkenazi Jewish	0.000998	0.000993
East Asian	0.00346	0.00343
Finnish	0.00497	0.00491
European (Non-Finnish)	0.00261	0.00257
Middle Eastern	0.00346	0.00343
South Asian	0.0000327	0.0000327
Other	0.00498	0.00490

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form.
• Pathway: Complement and coagulation cascades - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Primary Focal Segmental Glomerulosclerosis FSGS;Human Complement System;VEGFA-VEGFR2 Signaling Pathway;Dengue-2 Interactions with Complement and Coagulation Cascades;Complement and Coagulation Cascades;Neutrophil degranulation;Dissolution of Fibrin Clot;Attachment of GPI anchor to uPAR;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Beta3 integrin cell surface interactions;Hemostasis;Beta5 beta6 beta7 and beta8 integrin cell surface interactions;Beta1 integrin cell surface interactions;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling;Arf6 downstream pathway;Validated transcriptional targets of AP1 family members Fra1 and Fra2;FGF signaling pathway;Beta2 integrin cell surface interactions (Consensus)

Recessive Scores

• pRec: 0.558

Intolerance Scores

• loftool: 0.635
• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.7

Haploinsufficiency Scores

• pHI: 0.199
• hipred: Y
• hipred_score: 0.643
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.820

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Plaur
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; 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); hematopoietic system 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); liver/biliary system phenotype; respiratory system phenotype

Gene ontology

• Biological process: positive regulation of protein phosphorylation;chemotaxis;signal transduction;blood coagulation;regulation of proteolysis;urokinase plasminogen activator signaling pathway;fibrinolysis;negative regulation of apoptotic process;neutrophil degranulation;positive regulation of DNA binding;positive regulation of epidermal growth factor receptor signaling pathway;positive regulation of release of cytochrome c from mitochondria;negative regulation of intrinsic apoptotic signaling pathway;negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
• Cellular component: extracellular region;endoplasmic reticulum lumen;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;focal adhesion;cell surface;integral component of membrane;extrinsic component of membrane;anchored component of membrane;specific granule membrane;invadopodium membrane
• Molecular function: signaling receptor binding;protein binding;enzyme binding;protein domain specific binding;urokinase plasminogen activator receptor activity;signaling receptor activity