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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ESR1

check button Gene summary
Gene informationGene symbol

ESR1

Gene ID

2099

Gene nameestrogen receptor 1
SynonymsER|ESR|ESRA|ESTRR|Era|NR3A1
Cytomap

6q25.1-q25.2

Type of geneprotein-coding
Descriptionestrogen receptorE2 receptor alphaER-alphaestradiol receptorestrogen nuclear receptor alphaestrogen receptor alpha E1-E2-1-2estrogen receptor alpha E1-N2-E2-1-2nuclear receptor subfamily 3 group A member 1oestrogen receptor alpha
Modification date20180527
UniProtAcc

P03372

ContextPubMed: ESR1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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


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Exon skipping events across known transcript of Ensembl for ESR1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for ESR1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for ESR1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4548656152023009:152023140:152128977:152129499:152163731:152163922152128977:152129499ENSG00000091831.17ENST00000440973.1
exon_skip_4548726152129239:152129499:152163731:152163922:152201789:152201903152163731:152163922ENSG00000091831.17ENST00000206249.3,ENST00000440973.1,ENST00000443427.1,ENST00000338799.5,ENST00000456483.2
exon_skip_4548886152163731:152163922:152201789:152201906:152265307:152265643152201789:152201906ENSG00000091831.17ENST00000206249.3,ENST00000440973.1,ENST00000443427.1,ENST00000338799.5,ENST00000427531.2
exon_skip_4548896152163731:152163922:152201789:152201906:152332790:152332929152201789:152201906ENSG00000091831.17ENST00000456483.2
exon_skip_4549156152201791:152201906:152265307:152265643:152332790:152332929152265307:152265643ENSG00000091831.17ENST00000206249.3,ENST00000440973.1,ENST00000443427.1,ENST00000338799.5,ENST00000427531.2
exon_skip_4549236152265307:152265643:152332790:152332929:152382125:152382194152332790:152332929ENSG00000091831.17ENST00000206249.3,ENST00000440973.1,ENST00000443427.1,ENST00000338799.5,ENST00000427531.2
exon_skip_4549266152332790:152332929:152382125:152382259:152415519:152415703152382125:152382259ENSG00000091831.17ENST00000206249.3,ENST00000440973.1,ENST00000443427.1,ENST00000338799.5,ENST00000456483.2
exon_skip_4549346152382125:152382259:152415519:152415703:152419866:152420113152415519:152415703ENSG00000091831.17ENST00000206249.3,ENST00000440973.1,ENST00000406599.1,ENST00000443427.1,ENST00000338799.5,ENST00000456483.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for ESR1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4548656152023009:152023140:152128977:152129499:152163731:152163922152128977:152129499ENSG00000091831.17ENST00000440973.1
exon_skip_4548726152129239:152129499:152163731:152163922:152201789:152201903152163731:152163922ENSG00000091831.17ENST00000440973.1,ENST00000338799.5,ENST00000456483.2,ENST00000443427.1,ENST00000206249.3
exon_skip_4548886152163731:152163922:152201789:152201906:152265307:152265643152201789:152201906ENSG00000091831.17ENST00000440973.1,ENST00000338799.5,ENST00000443427.1,ENST00000206249.3,ENST00000427531.2
exon_skip_4549156152201791:152201906:152265307:152265643:152332790:152332929152265307:152265643ENSG00000091831.17ENST00000440973.1,ENST00000338799.5,ENST00000443427.1,ENST00000206249.3,ENST00000427531.2
exon_skip_4549236152265307:152265643:152332790:152332929:152382125:152382194152332790:152332929ENSG00000091831.17ENST00000440973.1,ENST00000338799.5,ENST00000443427.1,ENST00000206249.3,ENST00000427531.2
exon_skip_4549346152382125:152382259:152415519:152415703:152419866:152420113152415519:152415703ENSG00000091831.17ENST00000440973.1,ENST00000338799.5,ENST00000456483.2,ENST00000443427.1,ENST00000206249.3,ENST00000406599.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ESR1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004409731521289771521294995CDS-5UTR
ENST00000206249152163731152163922Frame-shift
ENST00000338799152163731152163922Frame-shift
ENST00000440973152163731152163922Frame-shift
ENST00000443427152163731152163922Frame-shift
ENST00000206249152332790152332929Frame-shift
ENST00000338799152332790152332929Frame-shift
ENST00000440973152332790152332929Frame-shift
ENST00000443427152332790152332929Frame-shift
ENST00000206249152382125152382259Frame-shift
ENST00000338799152382125152382259Frame-shift
ENST00000440973152382125152382259Frame-shift
ENST00000443427152382125152382259Frame-shift
ENST00000206249152415519152415703Frame-shift
ENST00000338799152415519152415703Frame-shift
ENST00000440973152415519152415703Frame-shift
ENST00000443427152415519152415703Frame-shift
ENST00000206249152201789152201906In-frame
ENST00000338799152201789152201906In-frame
ENST00000440973152201789152201906In-frame
ENST00000443427152201789152201906In-frame
ENST00000206249152265307152265643In-frame
ENST00000338799152265307152265643In-frame
ENST00000440973152265307152265643In-frame
ENST00000443427152265307152265643In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004409731521289771521294995CDS-5UTR
ENST00000206249152163731152163922Frame-shift
ENST00000338799152163731152163922Frame-shift
ENST00000440973152163731152163922Frame-shift
ENST00000443427152163731152163922Frame-shift
ENST00000206249152332790152332929Frame-shift
ENST00000338799152332790152332929Frame-shift
ENST00000440973152332790152332929Frame-shift
ENST00000443427152332790152332929Frame-shift
ENST00000206249152415519152415703Frame-shift
ENST00000338799152415519152415703Frame-shift
ENST00000440973152415519152415703Frame-shift
ENST00000443427152415519152415703Frame-shift
ENST00000206249152201789152201906In-frame
ENST00000338799152201789152201906In-frame
ENST00000440973152201789152201906In-frame
ENST00000443427152201789152201906In-frame
ENST00000206249152265307152265643In-frame
ENST00000338799152265307152265643In-frame
ENST00000440973152265307152265643In-frame
ENST00000443427152265307152265643In-frame

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Infer the effects of exon skipping event on protein functional features for ESR1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000206249647259515220178915220190610061122214253
ENST00000338799335259515220178915220190621042220214253
ENST00000440973648359515220178915220190610141130214253
ENST0000044342763745951522017891522019069051021214253
ENST00000206249647259515226530715226564311231458253365
ENST00000338799335259515226530715226564322212556253365
ENST00000440973648359515226530715226564311311466253365
ENST00000443427637459515226530715226564310221357253365

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000206249647259515220178915220190610061122214253
ENST00000338799335259515220178915220190621042220214253
ENST00000440973648359515220178915220190610141130214253
ENST0000044342763745951522017891522019069051021214253
ENST00000206249647259515226530715226564311231458253365
ENST00000338799335259515226530715226564322212556253365
ENST00000440973648359515226530715226564311311466253365
ENST00000443427637459515226530715226564310221357253365

check button 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 featureDescription of feature
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253251310RegionNote=Hinge
P03372214253251310RegionNote=Hinge
P03372214253251310RegionNote=Hinge
P03372214253251310RegionNote=Hinge
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365251310RegionNote=Hinge
P03372253365251310RegionNote=Hinge
P03372253365251310RegionNote=Hinge
P03372253365251310RegionNote=Hinge
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365264595RegionNote=Self-association
P03372253365264595RegionNote=Self-association
P03372253365264595RegionNote=Self-association
P03372253365264595RegionNote=Self-association
P03372253365311595RegionNote=Transactivation AF-2
P03372253365311595RegionNote=Transactivation AF-2
P03372253365311595RegionNote=Transactivation AF-2
P03372253365311595RegionNote=Transactivation AF-2


check button 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 featureDescription of feature
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253222225Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722142531595ChainID=PRO_0000053618;Note=Estrogen receptor
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253185250DNA bindingNote=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253238248HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372214253251310RegionNote=Hinge
P03372214253251310RegionNote=Hinge
P03372214253251310RegionNote=Hinge
P03372214253251310RegionNote=Hinge
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253231236TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCQ
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372214253221245Zinc fingerNote=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365255366Alternative sequenceID=VSP_003680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:3753802;Dbxref=PMID:3753802
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365330332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YJA
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P03372253365334336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QZO
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P033722533651595ChainID=PRO_0000053618;Note=Estrogen receptor
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365311547DomainNote=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365288291HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LLO
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365302304HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q95
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365307309HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UUD
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365312322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365339361HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXE
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260Modified residueNote=Asymmetric dimethylarginine%3B by PRMT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365260260MutagenesisNote=Loss of methylation. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18657504;Dbxref=PMID:18657504
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365364364MutagenesisNote=Has higher transcriptional activity in the absence of wild type ER. Inhibits transcriptional activity when coexpressed with the wild type receptor. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8961262;Dbxref=PMID:8961262
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365264264Natural variantID=VAR_033029;Note=In a breast cancer sample%3B somatic mutation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=PMID:17224074
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365185310RegionNote=Mediates interaction with DNTTIP2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15047147;Dbxref=PMID:15047147
P03372253365251310RegionNote=Hinge
P03372253365251310RegionNote=Hinge
P03372253365251310RegionNote=Hinge
P03372253365251310RegionNote=Hinge
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365262595RegionNote=Interaction with AKAP13;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9627117;Dbxref=PMID:9627117
P03372253365264595RegionNote=Self-association
P03372253365264595RegionNote=Self-association
P03372253365264595RegionNote=Self-association
P03372253365264595RegionNote=Self-association
P03372253365311595RegionNote=Transactivation AF-2
P03372253365311595RegionNote=Transactivation AF-2
P03372253365311595RegionNote=Transactivation AF-2
P03372253365311595RegionNote=Transactivation AF-2


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SNVs in the skipped exons for ESR1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BRCATCGA-E2-A10A-01exon_skip_454865
152128978152129499152129128152129131Frame_Shift_DelCCGT-p.P29fs
LIHCTCGA-DD-A39Y-01exon_skip_454865
152128978152129499152129164152129164Frame_Shift_DelG-p.L39fs
COADTCGA-A6-5665-01exon_skip_454865
152128978152129499152129287152129287Frame_Shift_DelC-p.Y80fs
LIHCTCGA-G3-A3CJ-01exon_skip_454915
152265308152265643152265517152265517Frame_Shift_DelC-p.P325fs
LIHCTCGA-DD-A3A0-01exon_skip_454915
152265308152265643152265522152265522Frame_Shift_DelG-p.P325fs
LUSCTCGA-22-5473-01exon_skip_454915
152265308152265643152265522152265522Frame_Shift_DelG-p.P327fs
LIHCTCGA-G3-A3CJ-01exon_skip_454915
152265308152265643152265576152265576Frame_Shift_DelG-p.M343fs
HNSCTCGA-DQ-7592-01exon_skip_454865
152128978152129499152129337152129338Frame_Shift_Ins-Cp.F97fs
HNSCTCGA-DQ-7592-01exon_skip_454865
152128978152129499152129337152129338Frame_Shift_Ins-Cp.S97fs
LIHCTCGA-CC-A7II-01exon_skip_454865
152128978152129499152129176152129176Nonsense_MutationCAp.Y43*
LIHCTCGA-CC-A7II-01exon_skip_454865
152128978152129499152129176152129176Nonsense_MutationCAp.Y43X
ESCATCGA-IG-A5S3-01exon_skip_454872
152163732152163922152163922152163922Nonsense_MutationGTp.G215X
LUADTCGA-55-8205-01exon_skip_454888
exon_skip_454889
152201790152201906152201857152201857Nonsense_MutationCAp.C237*
PRADTCGA-KK-A59X-01exon_skip_454915
152265308152265643152265313152265313Nonsense_MutationCTp.R256*
PRADTCGA-KK-A59X-01exon_skip_454915
152265308152265643152265313152265313Nonsense_MutationCTp.R256X
STADTCGA-BR-6452-01exon_skip_454934
152415520152415703152415579152415579Nonsense_MutationCTp.R477*
READTCGA-F5-6814-01exon_skip_454872
152163732152163922152163731152163731Splice_SiteGT.
LIHCTCGA-G3-A7M7-01exon_skip_454934
152415520152415703152415519152415519Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SNU398_LIVER152201790152201906152201836152201836Frame_Shift_DelT-p.D230fs
CW2_LARGE_INTESTINE152265308152265643152265516152265517Frame_Shift_Ins-Cp.P324fs
SW1271_LUNG152382126152382259152382234152382235Frame_Shift_Ins-Ap.K449fs
SNU81_LARGE_INTESTINE152128978152129499152129228152129228Missense_MutationGAp.E61K
HEC1A_ENDOMETRIUM152128978152129499152129268152129268Missense_MutationGAp.G74D
EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE152128978152129499152129337152129337Missense_MutationTCp.F97S
CAL27_UPPER_AERODIGESTIVE_TRACT152163732152163922152163752152163752Missense_MutationGAp.R158H
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE152163732152163922152163752152163752Missense_MutationGAp.R158H
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE152163732152163922152163770152163770Missense_MutationGTp.R164I
NCIH2172_LUNG152163732152163922152163821152163821Missense_MutationACp.E181A
GP2D_LARGE_INTESTINE152163732152163922152163823152163823Missense_MutationAGp.T182A
GP5D_LARGE_INTESTINE152163732152163922152163823152163823Missense_MutationAGp.T182A
HCC1359_LUNG152201790152201906152201860152201860Missense_MutationGTp.Q238H
HEC6_ENDOMETRIUM152201790152201906152201862152201862Missense_MutationCAp.A239D
KNS62_LUNG152201790152201906152201868152201868Missense_MutationGTp.R241L
CL14_LARGE_INTESTINE152201790152201906152201881152201881Missense_MutationCGp.C245W
HT115_LARGE_INTESTINE152201790152201906152201885152201885Missense_MutationGAp.E247K
TASK1_CENTRAL_NERVOUS_SYSTEM152265308152265643152265364152265364Missense_MutationGAp.D273N
SNUC2A_LARGE_INTESTINE152265308152265643152265374152265374Missense_MutationGAp.G276D
SNUC2B_LARGE_INTESTINE152265308152265643152265374152265374Missense_MutationGAp.G276D
MEWO_SKIN152265308152265643152265438152265438Missense_MutationGAp.M297I
2313287_STOMACH152265308152265643152265444152265444Missense_MutationATp.K299N
COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE152265308152265643152265445152265445Missense_MutationCTp.R300C
M14_SKIN152265308152265643152265508152265508Missense_MutationGAp.D321N
SNU81_LARGE_INTESTINE152265308152265643152265569152265569Missense_MutationCTp.S341L
OC316_OVARY152332791152332929152332868152332868Missense_MutationGAp.V392I
OC314_OVARY152332791152332929152332868152332868Missense_MutationGAp.V392I
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE152382126152382259152382167152382167Missense_MutationAGp.D426G
NCIH630_LARGE_INTESTINE152415520152415703152415523152415523Missense_MutationTCp.V458A
SNU81_LARGE_INTESTINE152415520152415703152415589152415589Missense_MutationAGp.D480G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ESR1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESR1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ESR1


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RelatedDrugs for ESR1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P03372DB00286Conjugated estrogensEstrogen receptorsmall moleculeapproved
P03372DB00304DesogestrelEstrogen receptorsmall moleculeapproved
P03372DB00648MitotaneEstrogen receptorsmall moleculeapproved
P03372DB00655EstroneEstrogen receptorsmall moleculeapproved
P03372DB00675TamoxifenEstrogen receptorsmall moleculeapproved
P03372DB00841DobutamineEstrogen receptorsmall moleculeapproved
P03372DB00977EthinylestradiolEstrogen receptorsmall moleculeapproved
P03372DB01406DanazolEstrogen receptorsmall moleculeapproved
P03372DB06710MethyltestosteroneEstrogen receptorsmall moleculeapproved
P03372DB09369Polyestradiol phosphateEstrogen receptorsmall moleculeapproved
P03372DB09371NorethynodrelEstrogen receptorsmall moleculeapproved
P03372DB11619GestrinoneEstrogen receptorsmall moleculeapproved
P03372DB01185FluoxymesteroneEstrogen receptorsmall moleculeapproved|illicit
P03372DB00255DiethylstilbestrolEstrogen receptorsmall moleculeapproved|investigational
P03372DB00294EtonogestrelEstrogen receptorsmall moleculeapproved|investigational
P03372DB00367LevonorgestrelEstrogen receptorsmall moleculeapproved|investigational
P03372DB00481RaloxifeneEstrogen receptorsmall moleculeapproved|investigational
P03372DB00539ToremifeneEstrogen receptorsmall moleculeapproved|investigational
P03372DB00603Medroxyprogesterone acetateEstrogen receptorsmall moleculeapproved|investigational
P03372DB00624TestosteroneEstrogen receptorsmall moleculeapproved|investigational
P03372DB00882ClomifeneEstrogen receptorsmall moleculeapproved|investigational
P03372DB00890DienestrolEstrogen receptorsmall moleculeapproved|investigational
P03372DB00947FulvestrantEstrogen receptorsmall moleculeapproved|investigational
P03372DB00957NorgestimateEstrogen receptorsmall moleculeapproved|investigational
P03372DB01196EstramustineEstrogen receptorsmall moleculeapproved|investigational
P03372DB01593ZincEstrogen receptorsmall moleculeapproved|investigational
P03372DB04930PermethrinEstrogen receptorsmall moleculeapproved|investigational
P03372DB04938OspemifeneEstrogen receptorsmall moleculeapproved|investigational
P03372DB06202LasofoxifeneEstrogen receptorsmall moleculeapproved|investigational
P03372DB06401BazedoxifeneEstrogen receptorsmall moleculeapproved|investigational
P03372DB09070TiboloneEstrogen receptorsmall moleculeapproved|investigational
P03372DB14487Zinc acetateEstrogen receptorsmall moleculeapproved|investigational
P03372DB14533Zinc chlorideEstrogen receptorsmall moleculeapproved|investigational
P03372DB01708PrasteroneEstrogen receptorsmall moleculeapproved|investigational|nutraceutical
P03372DB00783EstradiolEstrogen receptorsmall moleculeapproved|investigational|vet_approved
P03372DB04573EstriolEstrogen receptorsmall moleculeapproved|investigational|vet_approved
P03372DB01108TrilostaneEstrogen receptorsmall moleculeapproved|investigational|vet_approved|withdrawn
P03372DB01065MelatoninEstrogen receptorsmall moleculeapproved|nutraceutical|vet_approved
P03372DB00396ProgesteroneEstrogen receptorsmall moleculeapproved|vet_approved
P03372DB01183NaloxoneEstrogen receptorsmall moleculeapproved|vet_approved
P03372DB00431LindaneEstrogen receptorsmall moleculeapproved|withdrawn
P03372DB00756HexachloropheneEstrogen receptorsmall moleculeapproved|withdrawn
P03372DB04824PhenolphthaleinEstrogen receptorsmall moleculeapproved|withdrawn

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RelatedDiseases for ESR1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ESR1C1458155Mammary Neoplasms11CTD_human
ESR1C0005586Bipolar Disorder5PSYGENET
ESR1C0011570Mental Depression5PSYGENET
ESR1C0011581Depressive disorder5PSYGENET
ESR1C0036341Schizophrenia5PSYGENET
ESR1C0525045Mood Disorders4PSYGENET
ESR1C0001418Adenocarcinoma2CTD_human
ESR1C0021364Male infertility2CTD_human
ESR1C0024121Lung Neoplasms2CTD_human
ESR1C0024667Animal Mammary Neoplasms2CTD_human
ESR1C0025500Mesothelioma2CTD_human
ESR1C0033578Prostatic Neoplasms2CTD_human
ESR1C1956346Coronary Artery Disease2CTD_human
ESR1C3809250ESTROGEN RESISTANCE2ORPHANET;UNIPROT
ESR1C0002395Alzheimer's Disease1CTD_human
ESR1C0004114Astrocytoma1CTD_human
ESR1C0004153Atherosclerosis1CTD_human
ESR1C0005695Bladder Neoplasm1CTD_human
ESR1C0005944Metabolic Bone Disorder1CTD_human
ESR1C0007621Neoplastic Cell Transformation1CTD_human
ESR1C0014170Endometrial Neoplasms1CTD_human
ESR1C0015799Feminization1CTD_human
ESR1C0017658Glomerulonephritis1CTD_human
ESR1C0021361Female infertility1CTD_human
ESR1C0023267Fibroid Tumor1CTD_human
ESR1C0023418leukemia1CTD_human
ESR1C0023903Liver neoplasms1CTD_human
ESR1C0024668Mammary Neoplasms, Experimental1CTD_human
ESR1C0024809Marijuana Abuse1PSYGENET
ESR1C0026858Musculoskeletal Pain1CTD_human
ESR1C0027051Myocardial Infarction1CTD_human
ESR1C0027627Neoplasm Metastasis1CTD_human
ESR1C0027643Neoplasm Recurrence, Local1CTD_human
ESR1C0028754Obesity1CTD_human
ESR1C0028960Oligospermia1CTD_human
ESR1C0033941Psychoses, Substance-Induced1CTD_human
ESR1C0036939Shared Paranoid Disorder1PSYGENET
ESR1C0149931Migraine Disorders1CTD_human
ESR1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
ESR1C1720887Female Urogenital Diseases1CTD_human
ESR1C2239176Liver carcinoma1CTD_human