G0S2
Basic information
Region (hg38): 1:209675412-209676390
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 G0S2 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 | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 5 | 1 | 0 |
Variants in G0S2
This is a list of pathogenic ClinVar variants found in the G0S2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-209675700-G-A | not specified | Uncertain significance (Feb 14, 2023) | ||
| 1-209675729-G-A | not specified | Uncertain significance (Jun 13, 2024) | ||
| 1-209675815-A-T | not specified | Uncertain significance (Jan 30, 2024) | ||
| 1-209675841-G-A | not specified | Uncertain significance (Feb 16, 2023) | ||
| 1-209675858-C-A | not specified | Uncertain significance (Jun 23, 2021) | ||
| 1-209675958-G-A | not specified | Uncertain significance (Aug 01, 2022) | ||
| 1-209675961-G-A | not specified | Likely benign (Sep 01, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| G0S2 | protein_coding | protein_coding | ENST00000367029 | 1 | 969 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.378 | 0.488 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.297 | 46 | 52.0 | 0.884 | 0.00000235 | 635 |
| Missense in Polyphen | 9 | 13.532 | 0.66508 | 160 | ||
| Synonymous | 0.143 | 24 | 24.9 | 0.964 | 0.00000116 | 223 |
| Loss of Function | 0.863 | 0 | 0.868 | 0.00 | 3.65e-8 | 12 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers. {ECO:0000269|PubMed:19706769}.;
- Pathway
- Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Vitamin D Receptor Pathway;Exercise-induced Circadian Regulation
(Consensus)
Intolerance Scores
- loftool
- 0.206
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 62.74
Haploinsufficiency Scores
- pHI
- 0.0725
- hipred
- N
- hipred_score
- 0.231
- ghis
- 0.430
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.575
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- G0s2
- Phenotype
- renal/urinary system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- regulation of lipid metabolic process;extrinsic apoptotic signaling pathway;positive regulation of cold-induced thermogenesis;positive regulation of extrinsic apoptotic signaling pathway
- Cellular component
- mitochondrion;lipid droplet
- Molecular function
- molecular_function;protein binding