|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for ESR1 |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ESR1 | GO:0006366 | transcription by RNA polymerase II | 15831516 |
| ESR1 | GO:0010629 | negative regulation of gene expression | 21695196 |
| ESR1 | GO:0030520 | intracellular estrogen receptor signaling pathway | 9841876 |
| ESR1 | GO:0032355 | response to estradiol | 15304487 |
| ESR1 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 7651415|16043358 |
| ESR1 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 10816575 |
| ESR1 | GO:0043627 | response to estrogen | 11581164 |
| ESR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9841876|20074560 |
| ESR1 | GO:0045899 | positive regulation of RNA polymerase II transcriptional preinitiation complex assembly | 9841876 |
| ESR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11544182|12047722|15345745|15831516|18563714 |
| ESR1 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 9328340|10681512 |
| ESR1 | GO:0071392 | cellular response to estradiol stimulus | 15831516 |
Top |
Gene structures and expression levels for ESR1 |
| 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. |
 |
ENSG00000091831
| 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. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ESR1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_58958 | chr6 | 152060991:152061124:152094385:152094568:152098732:152098920 | 152094385:152094568 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ESR1 |
| 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 |
| 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 |
| 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 |
| ENST00000206249 | 152094385 | 152094568 | Frame-shift |
| ENST00000338799 | 152094385 | 152094568 | Frame-shift |
| ENST00000440973 | 152094385 | 152094568 | Frame-shift |
| ENST00000443427 | 152094385 | 152094568 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for ESR1 |
p-ENSG00000091831_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in ESR1 |
| 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 |
Top |
SNVs in the skipped exons for ESR1 |
| - 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 |
Top |
AD stage-associated exon skippint events for ESR1 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESR1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for ESR1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for ESR1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P03372 | approved|investigational | DB00255 | Diethylstilbestrol | small molecule | P03372 |
| P03372 | approved | DB00286 | Conjugated estrogens | small molecule | P03372 |
| P03372 | approved|investigational | DB00294 | Etonogestrel | small molecule | P03372 |
| P03372 | approved | DB00304 | Desogestrel | small molecule | P03372 |
| P03372 | approved|investigational | DB00367 | Levonorgestrel | small molecule | P03372 |
| P03372 | approved|vet_approved | DB00396 | Progesterone | small molecule | P03372 |
| P03372 | approved|withdrawn | DB00431 | Lindane | small molecule | P03372 |
| P03372 | approved|investigational | DB00481 | Raloxifene | small molecule | P03372 |
| P03372 | approved|investigational | DB00539 | Toremifene | small molecule | P03372 |
| P03372 | approved|investigational | DB00603 | Medroxyprogesterone acetate | small molecule | P03372 |
| P03372 | approved|investigational | DB00624 | Testosterone | small molecule | P03372 |
| P03372 | approved | DB00648 | Mitotane | small molecule | P03372 |
| P03372 | approved | DB00655 | Estrone | small molecule | P03372 |
| P03372 | approved | DB00675 | Tamoxifen | small molecule | P03372 |
| P03372 | approved|withdrawn | DB00756 | Hexachlorophene | small molecule | P03372 |
| P03372 | approved|investigational|vet_approved | DB00783 | Estradiol | small molecule | P03372 |
| P03372 | approved | DB00841 | Dobutamine | small molecule | P03372 |
| P03372 | approved|investigational | DB00882 | Clomifene | small molecule | P03372 |
| P03372 | approved|investigational | DB00890 | Dienestrol | small molecule | P03372 |
| P03372 | approved|investigational | DB00947 | Fulvestrant | small molecule | P03372 |
| P03372 | approved|investigational | DB00957 | Norgestimate | small molecule | P03372 |
| P03372 | approved | DB00977 | Ethinylestradiol | small molecule | P03372 |
| P03372 | approved|nutraceutical|vet_approved | DB01065 | Melatonin | small molecule | P03372 |
| P03372 | approved|investigational|vet_approved|withdrawn | DB01108 | Trilostane | small molecule | P03372 |
| P03372 | approved|vet_approved | DB01183 | Naloxone | small molecule | P03372 |
| P03372 | approved|illicit | DB01185 | Fluoxymesterone | small molecule | P03372 |
| P03372 | approved|investigational | DB01196 | Estramustine | small molecule | P03372 |
| P03372 | approved | DB01406 | Danazol | small molecule | P03372 |
| P03372 | approved|investigational | DB01593 | Zinc | small molecule | P03372 |
| P03372 | approved|investigational|nutraceutical | DB01708 | Prasterone | small molecule | P03372 |
| P03372 | approved|investigational|vet_approved | DB04573 | Estriol | small molecule | P03372 |
| P03372 | approved|withdrawn | DB04824 | Phenolphthalein | small molecule | P03372 |
| P03372 | approved|investigational | DB04930 | Permethrin | small molecule | P03372 |
| P03372 | approved|investigational | DB04938 | Ospemifene | small molecule | P03372 |
| P03372 | approved|investigational | DB06202 | Lasofoxifene | small molecule | P03372 |
| P03372 | approved|investigational | DB06401 | Bazedoxifene | small molecule | P03372 |
| P03372 | approved | DB06710 | Methyltestosterone | small molecule | P03372 |
| P03372 | approved|investigational | DB09070 | Tibolone | small molecule | P03372 |
| P03372 | approved | DB09369 | Polyestradiol phosphate | small molecule | P03372 |
| P03372 | approved | DB09371 | Norethynodrel | small molecule | P03372 |
| P03372 | approved | DB11619 | Gestrinone | small molecule | P03372 |
| P03372 | approved|investigational | DB14487 | Zinc acetate | small molecule | P03372 |
| P03372 | approved|investigational | DB14533 | Zinc chloride | small molecule | P03372 |
Top |
RelatedDiseases for ESR1 |
| 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)
|