PAQR8
Basic information
Region (hg38): 6:52361421-52407777
Previous symbols: [ "C6orf33" ]
Links
Phenotypes
GenCC
Source:
- schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
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:
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:
- 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
- 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