GPR85
Basic information
Region (hg38): 7:113078331-113087778
Links
Phenotypes
GenCC
Source:
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 GPR85 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 | 1 | |||||
missense | 18 | 18 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 18 | 0 | 1 |
Variants in GPR85
This is a list of pathogenic ClinVar variants found in the GPR85 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-113083651-G-T | Uncertain significance (May 01, 2022) | |||
7-113083733-G-A | not specified | Uncertain significance (Dec 03, 2021) | ||
7-113083767-C-T | not specified | Uncertain significance (Apr 19, 2023) | ||
7-113083815-C-T | not specified | Uncertain significance (Mar 29, 2022) | ||
7-113083923-C-T | not specified | Uncertain significance (Aug 11, 2022) | ||
7-113084092-G-A | Benign (Apr 16, 2018) | |||
7-113084130-T-A | not specified | Uncertain significance (Jun 18, 2021) | ||
7-113084192-C-T | not specified | Uncertain significance (Jan 05, 2022) | ||
7-113084225-A-G | not specified | Uncertain significance (Mar 02, 2023) | ||
7-113084274-C-T | not specified | Uncertain significance (Jun 11, 2024) | ||
7-113084319-A-C | not specified | Uncertain significance (Jan 20, 2023) | ||
7-113084342-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
7-113084352-C-T | not specified | Uncertain significance (Nov 09, 2021) | ||
7-113084361-A-T | not specified | Uncertain significance (Jul 19, 2022) | ||
7-113084379-T-C | not specified | Uncertain significance (Nov 15, 2021) | ||
7-113084417-A-C | not specified | Uncertain significance (May 02, 2024) | ||
7-113084516-C-A | not specified | Uncertain significance (Jan 22, 2024) | ||
7-113084531-C-G | not specified | Uncertain significance (Jul 12, 2023) | ||
7-113084546-A-T | Uncertain significance (Dec 07, 2020) | |||
7-113084559-G-C | not specified | Uncertain significance (Feb 03, 2022) | ||
7-113084669-A-G | not specified | Uncertain significance (May 27, 2022) | ||
7-113084675-G-A | not specified | Uncertain significance (Jan 22, 2024) | ||
7-113084691-T-C | not specified | Uncertain significance (Feb 16, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GPR85 | protein_coding | protein_coding | ENST00000297146 | 1 | 9448 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.773 | 0.226 | 125743 | 0 | 2 | 125745 | 0.00000795 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.05 | 117 | 198 | 0.591 | 0.00000988 | 2411 |
Missense in Polyphen | 17 | 40.024 | 0.42475 | 529 | ||
Synonymous | 0.0897 | 76 | 77.0 | 0.987 | 0.00000411 | 771 |
Loss of Function | 2.51 | 1 | 9.25 | 0.108 | 4.57e-7 | 122 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000616 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000879 | 0.00000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Orphan receptor.;
- Pathway
- GPCRs, Class A Rhodopsin-like
(Consensus)
Recessive Scores
- pRec
- 0.447
Intolerance Scores
- loftool
- 0.144
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.264
- hipred
- Y
- hipred_score
- 0.566
- ghis
- 0.633
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.349
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gpr85
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); growth/size/body region phenotype;
Gene ontology
- Biological process
- signal transduction;G protein-coupled receptor signaling pathway
- Cellular component
- endoplasmic reticulum;plasma membrane;integral component of membrane
- Molecular function
- G protein-coupled receptor activity;protein binding