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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ESRRB |
 Gene summary |
| Gene information | Gene symbol | ESRRB | Gene ID | 2103 |
| Gene name | estrogen related receptor beta | |
| Synonyms | DFNB35|ERR2|ERRb|ESRL2|NR3B2 | |
| Cytomap | 14q24.3 | |
| Type of gene | protein-coding | |
| Description | steroid hormone receptor ERR2ERR beta-2ERR-betaERRbeta-2estrogen receptor-like 2estrogen-related nuclear receptor betanuclear receptor ERRB2nuclear receptor subfamily 3 group B member 2orphan nuclear receptor | |
| Modification date | 20180519 | |
| UniProtAcc | O95718 | |
| Context | PubMed: ESRRB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ESRRB | GO:0006355 | regulation of transcription, DNA-templated | 23836911 |
| ESRRB | GO:0019827 | stem cell population maintenance | 25522312 |
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Exon skipping events across known transcript of Ensembl for ESRRB from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ESRRB |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ESRRB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_108419 | 14 | 76905984:76906093:76928887:76929004:76948358:76948469 | 76928887:76929004 | ENSG00000119715.10 | ENST00000380887.2,ENST00000505752.1,ENST00000512784.1,ENST00000556177.1,ENST00000507951.1,ENST00000509242.1,ENST00000261532.7 |
| exon_skip_108420 | 14 | 76964556:76964795:76965068:76965255:76966205:76966409 | 76965068:76965255 | ENSG00000119715.10 | ENST00000505752.1,ENST00000261532.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ESRRB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_108419 | 14 | 76905984:76906093:76928887:76929004:76948358:76948469 | 76928887:76929004 | ENSG00000119715.10 | ENST00000512784.1,ENST00000505752.1,ENST00000507951.1,ENST00000509242.1,ENST00000556177.1,ENST00000380887.2,ENST00000261532.7 |
| exon_skip_108420 | 14 | 76964556:76964795:76965068:76965255:76966205:76966409 | 76965068:76965255 | ENSG00000119715.10 | ENST00000505752.1,ENST00000261532.7 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ESRRB |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380887 | 76928887 | 76929004 | In-frame |
| ENST00000509242 | 76928887 | 76929004 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380887 | 76928887 | 76929004 | In-frame |
| ENST00000509242 | 76928887 | 76929004 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ESRRB |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000380887 | 2730 | 433 | 76928887 | 76929004 | 470 | 586 | 132 | 171 |
| ENST00000509242 | 2161 | 433 | 76928887 | 76929004 | 496 | 612 | 132 | 171 |
| Loci of skipped exons in GTEx 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 |
| ENST00000380887 | 2730 | 433 | 76928887 | 76929004 | 470 | 586 | 132 | 171 |
| ENST00000509242 | 2161 | 433 | 76928887 | 76929004 | 496 | 612 | 132 | 171 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| O95718 | 132 | 171 | 1 | 433 | Chain | ID=PRO_0000053662;Note=Steroid hormone receptor ERR2 |
| O95718 | 132 | 171 | 1 | 433 | Chain | ID=PRO_0000053662;Note=Steroid hormone receptor ERR2 |
| O95718 | 132 | 171 | 100 | 186 | DNA binding | Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| O95718 | 132 | 171 | 100 | 186 | DNA binding | Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| O95718 | 132 | 171 | 121 | 132 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 121 | 132 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 149 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 149 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 156 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 156 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 170 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 170 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 93 | 211 | Region | Note=Interaction with NANOG;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61539 |
| O95718 | 132 | 171 | 93 | 211 | Region | Note=Interaction with NANOG;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61539 |
| O95718 | 132 | 171 | 139 | 163 | Zinc finger | Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| O95718 | 132 | 171 | 139 | 163 | Zinc finger | Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| O95718 | 132 | 171 | 1 | 433 | Chain | ID=PRO_0000053662;Note=Steroid hormone receptor ERR2 |
| O95718 | 132 | 171 | 1 | 433 | Chain | ID=PRO_0000053662;Note=Steroid hormone receptor ERR2 |
| O95718 | 132 | 171 | 100 | 186 | DNA binding | Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| O95718 | 132 | 171 | 100 | 186 | DNA binding | Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| O95718 | 132 | 171 | 121 | 132 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 121 | 132 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 149 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 149 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 156 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 156 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 170 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 170 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LO1 |
| O95718 | 132 | 171 | 93 | 211 | Region | Note=Interaction with NANOG;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61539 |
| O95718 | 132 | 171 | 93 | 211 | Region | Note=Interaction with NANOG;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q61539 |
| O95718 | 132 | 171 | 139 | 163 | Zinc finger | Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
| O95718 | 132 | 171 | 139 | 163 | Zinc finger | Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 |
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SNVs in the skipped exons for ESRRB |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_108420 | 76965069 | 76965255 | 76965177 | 76965177 | Frame_Shift_Del | C | - | p.P472fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_108420 | 76965069 | 76965255 | 76965183 | 76965183 | Frame_Shift_Del | C | - | p.P472fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_108419 | 76928888 | 76929004 | 76928979 | 76928979 | Nonsense_Mutation | C | A | p.C163* |
| LUAD | TCGA-44-7670-01 | exon_skip_108420 | 76965069 | 76965255 | 76965096 | 76965096 | Nonsense_Mutation | G | T | p.E442* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH1623_LUNG | 76928888 | 76929004 | 76928938 | 76928938 | Missense_Mutation | C | T | p.R150W |
| SNUC4_LARGE_INTESTINE | 76928888 | 76929004 | 76928944 | 76928944 | Missense_Mutation | C | T | p.R152C |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76928888 | 76929004 | 76928965 | 76928965 | Missense_Mutation | C | T | p.R159C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76928888 | 76929004 | 76928975 | 76928975 | Missense_Mutation | A | T | p.K162I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESRRB |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESRRB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESRRB |
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RelatedDrugs for ESRRB |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| O95718 | DB00255 | Diethylstilbestrol | Steroid hormone receptor ERR2 {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for ESRRB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ESRRB | C1837857 | DEAFNESS, AUTOSOMAL RECESSIVE 35 | 1 | CTD_human;UNIPROT |
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