PAQR6

progestin and adipoQ receptor family member 6, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 1:156243320-156248117

Links

ENSG00000160781 ∙ NCBI:79957 ∙ OMIM:614579 ∙ HGNC:30132 ∙ Uniprot:Q6TCH4 ∙ 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 PAQR6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAQR6 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						0
missense			18	1		19
nonsense				1		1
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3	2		5
Total	0	0	22	4	0

Variants in PAQR6

This is a list of pathogenic ClinVar variants found in the PAQR6 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-156243466-G-A		Nephrolithiasis, calcium oxalate	association (Mar 01, 2014)
1-156243889-C-G		not specified	Uncertain significance (Jun 02, 2023)
1-156243910-C-A		not specified	Uncertain significance (Feb 17, 2024)
1-156243961-C-T		not specified	Uncertain significance (May 30, 2024)
1-156244070-C-G		not specified	Uncertain significance (Dec 26, 2023)
1-156244082-T-C		not specified	Uncertain significance (Oct 12, 2021)
1-156244139-T-G		not specified	Uncertain significance (May 23, 2023)
1-156244140-T-A		not specified	Likely benign (May 23, 2023)
1-156244207-G-T		not specified	Uncertain significance (Oct 25, 2022)
1-156244334-G-A		not specified	Likely benign (Dec 20, 2023)
1-156244338-G-C		not specified	Uncertain significance (Dec 02, 2022)
1-156244698-T-C		not specified	Likely benign (Apr 24, 2024)
1-156244701-T-C		not specified	Uncertain significance (Jun 18, 2021)
1-156244704-G-A		not specified	Uncertain significance (Jun 29, 2022)
1-156244737-G-A		not specified	Likely benign (Apr 20, 2023)
1-156244742-G-A		not specified	Likely benign (Feb 22, 2023)
1-156244790-C-G		not specified	Uncertain significance (Dec 07, 2021)
1-156244799-A-G		not specified	Uncertain significance (Dec 07, 2023)
1-156244832-G-A		not specified	Uncertain significance (Apr 26, 2023)
1-156244851-C-T		not specified	Uncertain significance (Apr 12, 2022)
1-156244892-C-T		not specified	Uncertain significance (Oct 06, 2021)
1-156245176-G-C		not specified	Uncertain significance (Dec 13, 2023)
1-156245198-G-A		not specified	Uncertain significance (Nov 03, 2023)
1-156245201-G-A		not specified	Uncertain significance (Oct 20, 2023)
1-156245623-A-T		not specified	Uncertain significance (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAQR6	protein_coding	protein_coding	ENST00000335852	5	4676

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000655	0.501	125653	1	72	125726	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.751	180	211	0.854	0.0000119	2260
Missense in Polyphen		49	53.885	0.90934		544
Synonymous	0.431	84	89.2	0.942	0.00000544	709
Loss of Function	0.480	7	8.51	0.823	3.62e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000409	0.000408
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000415	0.000413
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.000494	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23763432, PubMed:23161870). {ECO:0000269|PubMed:23161870, ECO:0000303|PubMed:23763432}.

Recessive Scores

• pRec: 0.0731

Intolerance Scores

• loftool: 0.836
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.0627
• hipred: N
• hipred_score: 0.146
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.131

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paqr6
• 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)

Gene ontology

• Cellular component: plasma membrane;integral component of membrane
• Molecular function: steroid binding;signaling receptor activity