ESRRG
estrogen related receptor gamma, the group of Estrogen related receptors
Basic information
Region (hg38): 1:216503246-217137755
Links
Phenotypes
GenCC
Source:
No genCC data.
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 ESRRG 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 | 12 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 12 | 0 | 2 |
Variants in ESRRG
This is a list of pathogenic ClinVar variants found in the ESRRG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-216507027-T-C | not specified | Uncertain significance (Jul 09, 2021) | ||
| 1-216507180-G-C | not specified | Uncertain significance (Aug 02, 2022) | ||
| 1-216519217-T-C | Premature ovarian insufficiency | Uncertain significance (Jan 10, 2018) | ||
| 1-216519344-C-T | not specified | Uncertain significance (Jul 26, 2021) | ||
| 1-216564306-C-T | not specified | Uncertain significance (May 13, 2024) | ||
| 1-216567988-A-T | not specified | Uncertain significance (Nov 28, 2023) | ||
| 1-216568054-G-A | not specified | Uncertain significance (Dec 27, 2022) | ||
| 1-216651070-G-A | Benign (Dec 31, 2019) | |||
| 1-216651075-T-C | not specified | Uncertain significance (Dec 21, 2023) | ||
| 1-216677067-G-A | Benign (Jul 16, 2018) | |||
| 1-216677148-T-C | not specified | Uncertain significance (Oct 26, 2022) | ||
| 1-216677186-T-C | not specified | Uncertain significance (Apr 16, 2024) | ||
| 1-216677298-G-C | not specified | Uncertain significance (May 20, 2024) | ||
| 1-216677391-C-T | not specified | Uncertain significance (Dec 23, 2022) | ||
| 1-216677421-G-A | not specified | Uncertain significance (Mar 18, 2024) | ||
| 1-216677444-C-T | not specified | Uncertain significance (Jun 16, 2024) | ||
| 1-216677462-C-T | not specified | Uncertain significance (Sep 28, 2022) | ||
| 1-216677475-A-G | not specified | Uncertain significance (Apr 08, 2022) | ||
| 1-216707373-A-AAC | Premature ovarian insufficiency | Uncertain significance (Jan 10, 2018) | ||
| 1-216723259-A-G | not specified | Uncertain significance (Dec 20, 2023) | ||
| 1-216723284-G-A | not specified | Uncertain significance (Apr 12, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ESRRG | protein_coding | protein_coding | ENST00000366937 | 7 | 634510 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0712 | 0.928 | 125739 | 0 | 7 | 125746 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.56 | 155 | 274 | 0.566 | 0.0000152 | 3084 |
| Missense in Polyphen | 52 | 124.19 | 0.41873 | 1414 | ||
| Synonymous | -0.672 | 115 | 106 | 1.08 | 0.00000642 | 902 |
| Loss of Function | 3.05 | 6 | 21.1 | 0.284 | 0.00000118 | 252 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000290 | 0.0000290 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000455 | 0.0000440 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle. {ECO:0000250, ECO:0000269|PubMed:11864604, ECO:0000269|PubMed:18063693, ECO:0000269|PubMed:19067653, ECO:0000269|PubMed:23836911}.;
- Pathway
- NHR;Gene expression (Transcription);Generic Transcription Pathway;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription
(Consensus)
Recessive Scores
- pRec
- 0.194
Intolerance Scores
- loftool
- 0.0338
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.423
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.513
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.975
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Esrrg
- Phenotype
- growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hearing/vestibular/ear phenotype;
Zebrafish Information Network
- Gene name
- esrrgb
- Affected structure
- otolith
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- regulation of transcription, DNA-templated;transcription initiation from RNA polymerase II promoter;steroid hormone mediated signaling pathway;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;retinoic acid receptor signaling pathway;positive regulation of cold-induced thermogenesis
- Cellular component
- nucleoplasm
- Molecular function
- RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;steroid hormone receptor activity;nuclear receptor activity;steroid binding;protein binding;zinc ion binding;AF-2 domain binding