PAQR7

progestin and adipoQ receptor family member 7, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 1:25861484-25875708

Links

ENSG00000182749 ∙ NCBI:164091 ∙ OMIM:607779 ∙ HGNC:23146 ∙ Uniprot:Q86WK9 ∙ 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 PAQR7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAQR7 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			37			37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	0	0

Variants in PAQR7

This is a list of pathogenic ClinVar variants found in the PAQR7 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-25862825-G-A		not specified	Uncertain significance (Mar 17, 2023)
1-25862831-C-A		not specified	Uncertain significance (Feb 27, 2024)
1-25862845-A-G		not specified	Uncertain significance (May 24, 2023)
1-25862869-C-T		not specified	Uncertain significance (May 27, 2022)
1-25862914-G-A		not specified	Uncertain significance (Dec 18, 2023)
1-25862923-G-A		not specified	Uncertain significance (Jun 13, 2024)
1-25862939-G-A		not specified	Uncertain significance (Dec 03, 2024)
1-25862945-C-A		not specified	Uncertain significance (Jan 27, 2025)
1-25863020-C-T		not specified	Uncertain significance (Jun 27, 2023)
1-25863040-C-A		not specified	Uncertain significance (Jul 27, 2024)
1-25863055-C-T		not specified	Uncertain significance (Dec 12, 2024)
1-25863064-A-G		not specified	Uncertain significance (May 06, 2022)
1-25863170-G-A		not specified	Uncertain significance (Jan 22, 2024)
1-25863214-G-C		not specified	Uncertain significance (Mar 07, 2024)
1-25863232-C-T		not specified	Uncertain significance (Nov 28, 2023)
1-25863233-G-A		not specified	Uncertain significance (Jul 16, 2024)
1-25863347-C-T		not specified	Uncertain significance (Aug 22, 2022)
1-25863356-T-C		not specified	Uncertain significance (Dec 31, 2023)
1-25863373-G-C		not specified	Uncertain significance (Jul 05, 2024)
1-25863398-C-T		not specified	Uncertain significance (Aug 15, 2023)
1-25863430-C-T		not specified	Uncertain significance (Sep 11, 2024)
1-25863515-T-C		not specified	Uncertain significance (Nov 13, 2023)
1-25863518-A-G		not specified	Uncertain significance (Dec 16, 2023)
1-25863530-C-T		not specified	Uncertain significance (Jan 16, 2024)
1-25863535-G-A		not specified	Uncertain significance (Mar 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAQR7	protein_coding	protein_coding	ENST00000374296	1	10044

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000288	0.808	125722	0	25	125747	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.951	175	214	0.817	0.0000132	2245
Missense in Polyphen		46	60.419	0.76134		656
Synonymous	0.658	90	98.3	0.916	0.00000644	743
Loss of Function	1.16	7	11.2	0.626	6.37e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870). {ECO:0000269|PubMed:12601167, ECO:0000269|PubMed:23161870, ECO:0000303|PubMed:23763432}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.643
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.06

Haploinsufficiency Scores

• pHI: 0.156
• hipred: N
• hipred_score: 0.325
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.459

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paqr7

Gene ontology

• Biological process: multicellular organism development;oogenesis;response to steroid hormone
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: steroid hormone receptor activity;steroid binding;signaling receptor activity