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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ESRRG |
 Gene summary |
| Gene information | Gene symbol | ESRRG | Gene ID | 2104 |
| Gene name | estrogen related receptor gamma | |
| Synonyms | ERR-gamma|ERR3|ERRg|ERRgamma|NR3B3 | |
| Cytomap | 1q41 | |
| Type of gene | protein-coding | |
| Description | estrogen-related receptor gammaERR gamma-2estrogen receptor-related protein 3nuclear receptor subfamily 3 group B member 3 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ESRRG | GO:0006355 | regulation of transcription, DNA-templated | 23836911 |
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Gene structures and expression levels for ESRRG |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000196482
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ESRRG |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_113770 | chr1 | 216865117:216865178:216936662:216936699:216939582:216939670 | 216936662:216936699 |
| exon_skip_114609 | chr1 | 216865117:216865178:216939582:216939673:217089507:217089605 | 216939582:216939673 |
| exon_skip_115284 | chr1 | 216677328:216677491:216939582:216939673:217089507:217089605 | 216939582:216939673 |
| exon_skip_137920 | chr1 | 216677328:216677491:216865061:216865178:216939582:216939670 | 216865061:216865178 |
| exon_skip_171885 | chr1 | 216714516:216714634:216715074:216715249:216723244:216723416 | 216715074:216715249 |
| exon_skip_181128 | chr1 | 216677312:216677491:216714516:216714634:216715074:216715249 | 216714516:216714634 |
| exon_skip_199505 | chr1 | 216865061:216865178:216936662:216936699:216939582:216939670 | 216936662:216936699 |
| exon_skip_213892 | chr1 | 216677328:216677491:216715074:216715249:216723244:216723416 | 216715074:216715249 |
| exon_skip_230545 | chr1 | 216519152:216519421:216564219:216564380:216567988:216568098 | 216564219:216564380 |
| exon_skip_265306 | chr1 | 216677328:216677491:216714516:216714634:216715074:216715249 | 216714516:216714634 |
| exon_skip_277378 | chr1 | 216506788:216507183:216519152:216519421:216564219:216564380 | 216519152:216519421 |
| exon_skip_281137 | chr1 | 216519152:216519421:216564219:216564401:216567988:216568098 | 216564219:216564401 |
| exon_skip_290140 | chr1 | 216677312:216677491:216715074:216715249:216723244:216723429 | 216715074:216715249 |
| exon_skip_295198 | chr1 | 216677328:216677491:216714516:216714634:216723244:216723416 | 216714516:216714634 |
| exon_skip_295432 | chr1 | 216677312:216677491:216715074:216715249:216939582:216939673 | 216715074:216715249 |
| exon_skip_54984 | chr1 | 216567988:216568098:216650973:216651089:216677076:216677491 | 216650973:216651089 |
| exon_skip_65731 | chr1 | 216855042:216855125:216865061:216865178:216939582:216939670 | 216865061:216865178 |
| exon_skip_8798 | chr1 | 216677328:216677491:216715074:216715249:216939582:216939670 | 216715074:216715249 |
| exon_skip_91752 | chr1 | 216865117:216865178:216939582:216939673:217078136:217078288 | 216939582:216939673 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ESRRG |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000408911 | 216519152 | 216519421 | In-frame |
| ENST00000408911 | 216650973 | 216651089 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000408911 | 216519152 | 216519421 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000408911 | 216519152 | 216519421 | In-frame |
| ENST00000408911 | 216564219 | 216564380 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ESRRG |
p-ENSG00000196482_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000408911 | 5233 | 458 | 216650973 | 216651089 | 627 | 742 | 157 | 196 |
| ENST00000408911 | 5233 | 458 | 216519152 | 216519421 | 1017 | 1285 | 287 | 377 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000408911 | 5233 | 458 | 216519152 | 216519421 | 1017 | 1285 | 287 | 377 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000408911 | 5233 | 458 | 216564219 | 216564380 | 855 | 1015 | 233 | 287 |
| ENST00000408911 | 5233 | 458 | 216519152 | 216519421 | 1017 | 1285 | 287 | 377 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P62508 | 157 | 196 | 158 | 196 | Alternative sequence | ID=VSP_045980;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P62508 | 157 | 196 | 1 | 458 | Chain | ID=PRO_0000053665;Note=Estrogen-related receptor gamma |
| P62508 | 157 | 196 | 125 | 200 | DNA binding | Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| P62508 | 157 | 196 | 158 | 158 | Sequence conflict | Note=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P62508 | 157 | 196 | 164 | 188 | Zinc finger | Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| P62508 | 287 | 377 | 320 | 322 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 324 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 330 | 332 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 1 | 458 | Chain | ID=PRO_0000053665;Note=Estrogen-related receptor gamma |
| P62508 | 287 | 377 | 233 | 457 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P62508 | 287 | 377 | 289 | 291 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 294 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 334 | 339 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 343 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 363 | 375 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 313 | 313 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P62508 | 287 | 377 | 317 | 319 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P62508 | 287 | 377 | 320 | 322 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 324 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 330 | 332 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 1 | 458 | Chain | ID=PRO_0000053665;Note=Estrogen-related receptor gamma |
| P62508 | 287 | 377 | 233 | 457 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P62508 | 287 | 377 | 289 | 291 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 294 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 334 | 339 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 343 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 363 | 375 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 313 | 313 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P62508 | 287 | 377 | 317 | 319 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P62508 | 233 | 287 | 234 | 234 | Alternative sequence | ID=VSP_013301;Note=In isoform 3 and isoform 5. Y->LLWSDPAD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P62508 | 233 | 287 | 255 | 257 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TFC |
| P62508 | 233 | 287 | 1 | 458 | Chain | ID=PRO_0000053665;Note=Estrogen-related receptor gamma |
| P62508 | 233 | 287 | 233 | 457 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P62508 | 233 | 287 | 236 | 243 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 233 | 287 | 261 | 283 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 233 | 287 | 271 | 271 | Sequence conflict | Note=L->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P62508 | 287 | 377 | 320 | 322 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 324 | 327 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 330 | 332 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 1 | 458 | Chain | ID=PRO_0000053665;Note=Estrogen-related receptor gamma |
| P62508 | 287 | 377 | 233 | 457 | Domain | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 |
| P62508 | 287 | 377 | 289 | 291 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 294 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 334 | 339 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 343 | 359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 363 | 375 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
| P62508 | 287 | 377 | 313 | 313 | Sequence conflict | Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P62508 | 287 | 377 | 317 | 319 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E2R |
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3'-UTR located exon skipping events that lost miRNA binding sites in ESRRG |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ESRRG |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ESRRG |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESRRG |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ESRRG |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ESRRG |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P62508 | approved|investigational | DB00255 | Diethylstilbestrol | small molecule | P62508 |
| P62508 | approved | DB00675 | Tamoxifen | small molecule | P62508 |
| P62508 | approved|investigational|vet_approved | DB00783 | Estradiol | small molecule | P62508 |
| P62508 | approved | DB02659 | Cholic Acid | small molecule | P62508 |
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RelatedDiseases for ESRRG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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