PAQR8

progestin and adipoQ receptor family member 8, the group of Progestin and adipoQ receptor family

Basic information

Region (hg38): 6:52361420-52407777

Previous symbols: [ "C6orf33" ]

Links

ENSG00000170915 ∙ NCBI:85315 ∙ OMIM:607780 ∙ HGNC:15708 ∙ Uniprot:Q8TEZ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PAQR8 gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAQR8 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			15	1		16
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 PAQR8

This is a list of pathogenic ClinVar variants found in the PAQR8 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-52403386-C-T		not specified	Uncertain significance (Sep 16, 2021)
6-52403532-A-G		not specified	Likely benign (Sep 01, 2021)
6-52403571-A-G		not specified	Uncertain significance (May 09, 2022)
6-52403595-C-G		not specified	Uncertain significance (Sep 26, 2023)
6-52403620-C-T		not specified	Uncertain significance (Apr 03, 2023)
6-52403656-A-G		not specified	Uncertain significance (Jun 21, 2023)
6-52403728-A-G		not specified	Uncertain significance (Feb 28, 2024)
6-52403733-C-T		not specified	Uncertain significance (Jul 20, 2022)
6-52403754-C-T		not specified	Uncertain significance (Jul 20, 2022)
6-52403769-T-C		not specified	Uncertain significance (Jul 06, 2021)
6-52403788-C-T		not specified	Uncertain significance (Nov 23, 2022)
6-52403826-T-C		not specified	Uncertain significance (Dec 31, 2023)
6-52403919-C-T		not specified	Uncertain significance (Aug 16, 2021)
6-52403922-C-G		not specified	Uncertain significance (Jun 06, 2023)
6-52404028-C-T		not specified	Uncertain significance (Aug 24, 2022)
6-52404052-A-G		not specified	Uncertain significance (Feb 14, 2023)
6-52404172-T-C		not specified	Uncertain significance (Aug 08, 2022)
6-52404225-G-A		not specified	Uncertain significance (Mar 28, 2023)
6-52404225-G-T		not specified	Uncertain significance (Nov 09, 2022)
6-52404262-C-A		not specified	Uncertain significance (Feb 16, 2023)
6-52404270-G-T		not specified	Uncertain significance (Jun 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAQR8	protein_coding	protein_coding	ENST00000442253	1	46357

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.151	0.833	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.855	171	205	0.832	0.0000131	2277
Missense in Polyphen		62	82.932	0.7476		942
Synonymous	-0.0880	92	90.9	1.01	0.00000606	742
Loss of Function	2.09	3	10.2	0.294	4.48e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000217	0.000217
South Asian	0.0000654	0.0000653
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 (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870). {ECO:0000250|UniProtKB:Q80ZE5, ECO:0000269|PubMed:23161870, ECO:0000303|PubMed:23763432}.

Recessive Scores

• pRec: 0.141

Intolerance Scores

• loftool: 0.423
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.75

Haploinsufficiency Scores

• pHI: 0.279
• hipred: Y
• hipred_score: 0.507
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.748

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Paqr8

Gene ontology

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