PAQR4

progestin and adipoQ receptor family member 4, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 16:2969269-2973484

Links

ENSG00000162073 ∙ NCBI:124222 ∙ OMIM:614578 ∙ HGNC:26386 ∙ Uniprot:Q8N4S7 ∙ 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 PAQR4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAQR4 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				2		2
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	28	2	0

Variants in PAQR4

This is a list of pathogenic ClinVar variants found in the PAQR4 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2969682-T-A		not specified	Uncertain significance (Oct 26, 2021)
16-2969739-A-G		not specified	Uncertain significance (Oct 03, 2022)
16-2969768-G-A		not specified	Uncertain significance (Dec 01, 2022)
16-2969783-G-A		not specified	Uncertain significance (May 15, 2024)
16-2971202-C-T		not specified	Uncertain significance (Jan 09, 2024)
16-2971216-G-C		not specified	Uncertain significance (Oct 27, 2022)
16-2971222-G-T		not specified	Uncertain significance (Dec 21, 2023)
16-2971330-C-T		not specified	Uncertain significance (Oct 02, 2023)
16-2971360-T-C		not specified	Uncertain significance (Dec 13, 2023)
16-2971373-C-T		not specified	Uncertain significance (Jun 29, 2023)
16-2971566-C-T		not specified	Uncertain significance (Apr 04, 2023)
16-2971607-G-T		not specified	Uncertain significance (Oct 12, 2021)
16-2971613-C-T		not specified	Uncertain significance (Jul 22, 2022)
16-2971628-C-T		not specified	Uncertain significance (Apr 18, 2023)
16-2971650-G-A		not specified	Uncertain significance (Oct 05, 2023)
16-2971673-G-A		not specified	Uncertain significance (Feb 15, 2023)
16-2971677-G-A		not specified	Uncertain significance (Mar 15, 2024)
16-2971749-G-A		not specified	Uncertain significance (May 07, 2024)
16-2971753-G-A		not specified	Uncertain significance (Feb 23, 2023)
16-2971757-G-A		not specified	Uncertain significance (Jun 02, 2023)
16-2971764-C-T		not specified	Uncertain significance (Aug 15, 2023)
16-2971793-C-T		not specified	Uncertain significance (Sep 16, 2021)
16-2971794-G-A		not specified	Uncertain significance (Jan 02, 2024)
16-2971820-C-T		not specified	Uncertain significance (Feb 01, 2023)
16-2971867-C-T		not specified	Likely benign (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAQR4	protein_coding	protein_coding	ENST00000318782	3	4245

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000118	0.210	125542	0	64	125606	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.412	196	180	1.09	0.0000114	1692
Missense in Polyphen		74	72.229	1.0245		700
Synonymous	-1.50	101	83.6	1.21	0.00000527	642
Loss of Function	-0.0289	9	8.91	1.01	3.83e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000336	0.000302
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000419	0.000416
European (Non-Finnish)	0.000153	0.000150
Middle Eastern	0.0000544	0.0000544
South Asian	0.000917	0.000915
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.708
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.25

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.339
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.409

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paqr4

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: signaling receptor activity