GPX8
Basic information
Region (hg38): 5:55160166-55167297
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 GPX8 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 | 8 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 8 | 0 | 1 |
Variants in GPX8
This is a list of pathogenic ClinVar variants found in the GPX8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-55160284-C-T | not specified | Likely benign (May 12, 2024) | ||
5-55160289-T-C | not specified | Uncertain significance (Sep 27, 2021) | ||
5-55160359-A-G | not specified | Uncertain significance (Feb 22, 2023) | ||
5-55161011-C-G | not specified | Uncertain significance (Apr 07, 2022) | ||
5-55161058-A-G | not specified | Uncertain significance (Jan 09, 2024) | ||
5-55161140-C-T | Benign (Jan 30, 2018) | |||
5-55161154-T-C | not specified | Uncertain significance (Jun 21, 2023) | ||
5-55161160-C-G | not specified | Uncertain significance (Dec 05, 2022) | ||
5-55161203-C-G | not specified | Uncertain significance (Jul 06, 2021) | ||
5-55164093-T-G | not specified | Uncertain significance (Jun 13, 2023) | ||
5-55164193-T-G | not specified | Uncertain significance (Apr 12, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GPX8 | protein_coding | protein_coding | ENST00000503787 | 3 | 6954 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0531 | 0.871 | 125710 | 0 | 32 | 125742 | 0.000127 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.615 | 84 | 101 | 0.828 | 0.00000432 | 1350 |
Missense in Polyphen | 28 | 35.789 | 0.78237 | 499 | ||
Synonymous | 0.252 | 37 | 39.0 | 0.949 | 0.00000169 | 410 |
Loss of Function | 1.47 | 3 | 7.30 | 0.411 | 3.03e-7 | 107 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.000139 | 0.000139 |
European (Non-Finnish) | 0.000150 | 0.000149 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000229 | 0.000229 |
Other | 0.000184 | 0.000163 |
dbNSFP
Source:
- Pathway
- Thyroid hormone synthesis - Homo sapiens (human);Glutathione metabolism - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Detoxification of Reactive Oxygen Species;glutathione redox reactions I;Cellular responses to stress;Cellular responses to external stimuli;reactive oxygen species degradation
(Consensus)
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- 0.792
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 53.19
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.303
- ghis
- 0.569
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.225
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Low | Low |
Primary Immunodeficiency | Medium | Low | Medium |
Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Gpx8
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype;
Gene ontology
- Biological process
- cellular response to oxidative stress;oxidation-reduction process;cellular oxidant detoxification
- Cellular component
- endoplasmic reticulum lumen;integral component of membrane
- Molecular function
- peroxidase activity;glutathione peroxidase activity