PAQR8

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

Basic information

Region (hg38): 6:52361421-52407777

Previous symbols: [ "C6orf33" ]

Links

ENSG00000170915NCBI:85315OMIM:607780HGNC:15708Uniprot:Q8TEZ7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

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
20
clinvar
1
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 20 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
6-52403345-G-C not specified Uncertain significance (Jun 05, 2024)3304308
6-52403386-C-T not specified Uncertain significance (Sep 16, 2021)3208566
6-52403532-A-G not specified Likely benign (Sep 01, 2021)2398745
6-52403571-A-G not specified Uncertain significance (May 09, 2022)2288045
6-52403595-C-G not specified Uncertain significance (Sep 26, 2023)3208567
6-52403620-C-T not specified Uncertain significance (Apr 03, 2023)2532249
6-52403656-A-G not specified Uncertain significance (Jun 21, 2023)2597116
6-52403728-A-G not specified Uncertain significance (Feb 28, 2024)3208568
6-52403733-C-T not specified Uncertain significance (Jul 20, 2022)2362813
6-52403754-C-T not specified Uncertain significance (Jul 20, 2022)2302606
6-52403769-T-C not specified Uncertain significance (Jul 06, 2021)2235171
6-52403788-C-T not specified Uncertain significance (Nov 23, 2022)2329557
6-52403826-T-C not specified Uncertain significance (Dec 31, 2023)3208570
6-52403919-C-T not specified Uncertain significance (Aug 16, 2021)3208571
6-52403922-C-G not specified Uncertain significance (Jun 06, 2023)2557696
6-52404028-C-T not specified Uncertain significance (Aug 24, 2022)2366580
6-52404052-A-G not specified Uncertain significance (Feb 14, 2023)2483578
6-52404172-T-C not specified Uncertain significance (Aug 08, 2022)2305562
6-52404225-G-A not specified Uncertain significance (Mar 28, 2023)2517894
6-52404225-G-T not specified Uncertain significance (Nov 09, 2022)2325072
6-52404262-C-A not specified Uncertain significance (Feb 16, 2023)2458596
6-52404270-G-T not specified Uncertain significance (Jun 05, 2023)2556399

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PAQR8protein_codingprotein_codingENST00000442253 146357
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1510.8331257230251257480.0000994
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8551712050.8320.00001312277
Missense in Polyphen6282.9320.7476942
Synonymous-0.08809290.91.010.00000606742
Loss of Function2.09310.20.2944.48e-7120

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002390.000239
Ashkenazi Jewish0.000.00
East Asian0.0002170.000217
Finnish0.00004620.0000462
European (Non-Finnish)0.0001060.000105
Middle Eastern0.0002170.000217
South Asian0.00006540.0000653
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Paqr8
Phenotype

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