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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 ELF3

check button Gene summary
Gene informationGene symbol

ELF3

Gene ID

1999

Gene nameE74 like ETS transcription factor 3
SynonymsEPR-1|ERT|ESE-1|ESX
Cytomap

1q32.1

Type of geneprotein-coding
DescriptionETS-related transcription factor Elf-3E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific)E74-like factor 3 (ets domain transcription factor)E74-like factor 3 (ets domain transcription factor, epithelial-specific )epith
Modification date20180523
UniProtAcc

P78545

ContextPubMed: ELF3 [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
ELF3

GO:0045892

negative regulation of transcription, DNA-templated

10773884

ELF3

GO:0045893

positive regulation of transcription, DNA-templated

9234700


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Exon skipping events across known transcript of Ensembl for ELF3 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 ELF3

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 ELF3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_166391201979726:201979834:201980256:201980421:201981084:201981246201980256:201980421ENSG00000163435.11ENST00000446188.1
exon_skip_166411201979726:201979834:201980256:201980427:201981084:201981246201980256:201980427ENSG00000163435.11ENST00000495848.1,ENST00000367284.5
exon_skip_166511201979714:201979948:201980256:201980427:201981084:201981306201980256:201980427ENSG00000163435.11ENST00000367283.3
exon_skip_166561201980256:201980427:201981084:201981306:201981471:201981564201981084:201981306ENSG00000163435.11ENST00000367283.3,ENST00000367284.5
exon_skip_166631201981291:201981306:201981471:201981564:201981767:201981887201981471:201981564ENSG00000163435.11ENST00000359651.3,ENST00000367283.3,ENST00000446188.1,ENST00000367284.5
exon_skip_166711201981471:201981564:201981767:201981887:201982074:201982164201981767:201981887ENSG00000163435.11ENST00000359651.3,ENST00000367283.3,ENST00000490203.1,ENST00000446188.1,ENST00000367284.5
exon_skip_166741201981772:201981887:201982074:201982164:201982309:201982325201982074:201982164ENSG00000163435.11ENST00000359651.3,ENST00000367283.3,ENST00000470384.1,ENST00000490203.1,ENST00000446188.1,ENST00000367284.5
exon_skip_166911201982309:201982426:201982956:201983152:201984336:201984922201982956:201983152ENSG00000163435.11ENST00000359651.3,ENST00000367283.3,ENST00000367284.5

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

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Exon skipping events with PSIs in GTEx for ELF3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_166391201979726:201979834:201980256:201980421:201981084:201981246201980256:201980421ENSG00000163435.11ENST00000446188.1
exon_skip_166411201979726:201979834:201980256:201980427:201981084:201981246201980256:201980427ENSG00000163435.11ENST00000367284.5,ENST00000495848.1
exon_skip_166561201980256:201980427:201981084:201981306:201981471:201981564201981084:201981306ENSG00000163435.11ENST00000367284.5,ENST00000367283.3
exon_skip_166631201981291:201981306:201981471:201981564:201981767:201981887201981471:201981564ENSG00000163435.11ENST00000359651.3,ENST00000367284.5,ENST00000367283.3,ENST00000446188.1
exon_skip_166711201981471:201981564:201981767:201981887:201982074:201982164201981767:201981887ENSG00000163435.11ENST00000359651.3,ENST00000367284.5,ENST00000367283.3,ENST00000490203.1,ENST00000446188.1
exon_skip_166741201981772:201981887:201982074:201982164:201982309:201982325201982074:201982164ENSG00000163435.11ENST00000359651.3,ENST00000367284.5,ENST00000367283.3,ENST00000490203.1,ENST00000446188.1,ENST00000470384.1
exon_skip_166911201982309:201982426:201982956:201983152:201984336:201984922201982956:201983152ENSG00000163435.11ENST00000359651.3,ENST00000367284.5,ENST00000367283.3

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 ELF3

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
ENST000003672832019802562019804275CDS-5UTR
ENST000003672842019802562019804275CDS-5UTR
ENST00000359651201982956201983152Frame-shift
ENST00000367283201982956201983152Frame-shift
ENST00000367284201982956201983152Frame-shift
ENST00000367283201981084201981306In-frame
ENST00000367284201981084201981306In-frame
ENST00000359651201981471201981564In-frame
ENST00000367283201981471201981564In-frame
ENST00000367284201981471201981564In-frame
ENST00000359651201981767201981887In-frame
ENST00000367283201981767201981887In-frame
ENST00000367284201981767201981887In-frame
ENST00000359651201982074201982164In-frame
ENST00000367283201982074201982164In-frame
ENST00000367284201982074201982164In-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
ENST000003672842019802562019804275CDS-5UTR
ENST00000359651201982956201983152Frame-shift
ENST00000367283201982956201983152Frame-shift
ENST00000367284201982956201983152Frame-shift
ENST00000367283201981084201981306In-frame
ENST00000367284201981084201981306In-frame
ENST00000359651201981471201981564In-frame
ENST00000367283201981471201981564In-frame
ENST00000367284201981471201981564In-frame
ENST00000359651201981767201981887In-frame
ENST00000367283201981767201981887In-frame
ENST00000367284201981767201981887In-frame
ENST00000359651201982074201982164In-frame
ENST00000367283201982074201982164In-frame
ENST00000367284201982074201982164In-frame

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Infer the effects of exon skipping event on protein functional features for ELF3

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
ENST00000367283206137120198108420198130640662754128
ENST00000367284319637120198108420198130636258354128
ENST00000359651501137120198147120198156435783670128159
ENST000003672832061371201981471201981564628720128159
ENST000003672843196371201981471201981564584676128159
ENST00000359651501137120198176720198188736713790159199
ENST000003672832061371201981767201981887721840159199
ENST000003672843196371201981767201981887677796159199
ENST00000359651501137120198207420198216437913880199229
ENST000003672832061371201982074201982164841930199229
ENST000003672843196371201982074201982164797886199229

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
ENST00000367283206137120198108420198130640662754128
ENST00000367284319637120198108420198130636258354128
ENST00000359651501137120198147120198156435783670128159
ENST000003672832061371201981471201981564628720128159
ENST000003672843196371201981471201981564584676128159
ENST00000359651501137120198176720198188736713790159199
ENST000003672832061371201981767201981887721840159199
ENST000003672843196371201981767201981887677796159199
ENST00000359651501137120198207420198216437913880199229
ENST000003672832061371201982074201982164841930199229
ENST000003672843196371201982074201982164797886199229

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
P78545541286062Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286062Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541281371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P78545541281371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785455412846132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P785455412846132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P78545541286466HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286466HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286982HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286982HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128100104HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128100104HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128107113HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128107113HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128115117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128115117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541285556Sequence conflictNote=EK->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541285556Sequence conflictNote=EK->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541286868Sequence conflictNote=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541286868Sequence conflictNote=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541289294TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541289294TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P785451281591371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451281591371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451281591371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P7854512815946132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P7854512815946132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P7854512815946132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P78545128159118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545128159118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545128159118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545128159137145MotifNote=9aaTAD
P78545128159137145MotifNote=9aaTAD
P78545128159137145MotifNote=9aaTAD
P78545128159129130Sequence conflictNote=TS->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159129130Sequence conflictNote=TS->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159129130Sequence conflictNote=TS->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159134134Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159134134Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159134134Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545159199173195Alternative sequenceID=VSP_052433;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9234700;Dbxref=PMID:9234700
P78545159199173195Alternative sequenceID=VSP_052433;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9234700;Dbxref=PMID:9234700
P78545159199173195Alternative sequenceID=VSP_052433;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9234700;Dbxref=PMID:9234700
P785451591991371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451591991371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451591991371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P78545159199160161Sequence conflictNote=DQ->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545159199160161Sequence conflictNote=DQ->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545159199160161Sequence conflictNote=DQ->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P785451992291371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451992291371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451992291371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P78545199229201201Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545199229201201Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545199229201201Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
P78545541286062Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286062Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541281371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P78545541281371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785455412846132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P785455412846132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P78545541286466HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286466HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286982HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541286982HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128100104HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128100104HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128107113HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128107113HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128115117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128115117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P7854554128118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541285556Sequence conflictNote=EK->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541285556Sequence conflictNote=EK->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541286868Sequence conflictNote=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541286868Sequence conflictNote=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545541289294TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545541289294TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P785451281591371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451281591371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451281591371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P7854512815946132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P7854512815946132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P7854512815946132DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P78545128159118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545128159118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545128159118130HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E8P
P78545128159137145MotifNote=9aaTAD
P78545128159137145MotifNote=9aaTAD
P78545128159137145MotifNote=9aaTAD
P78545128159129130Sequence conflictNote=TS->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159129130Sequence conflictNote=TS->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159129130Sequence conflictNote=TS->SA;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159134134Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159134134Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545128159134134Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545159199173195Alternative sequenceID=VSP_052433;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9234700;Dbxref=PMID:9234700
P78545159199173195Alternative sequenceID=VSP_052433;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9234700;Dbxref=PMID:9234700
P78545159199173195Alternative sequenceID=VSP_052433;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9234700;Dbxref=PMID:9234700
P785451591991371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451591991371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451591991371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P78545159199160161Sequence conflictNote=DQ->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545159199160161Sequence conflictNote=DQ->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545159199160161Sequence conflictNote=DQ->GE;Ontology_term=ECO:0000305;evidence=ECO:0000305
P785451992291371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451992291371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P785451992291371ChainID=PRO_0000287681;Note=ETS-related transcription factor Elf-3
P78545199229201201Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545199229201201Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P78545199229201201Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for ELF3

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
KIRCTCGA-CW-6087-01exon_skip_16639
201980257201980421201980279201980279Frame_Shift_DelT-p.C5fs
KIRCTCGA-CW-6087-01exon_skip_16651
exon_skip_16641
201980257201980427201980279201980279Frame_Shift_DelT-p.C5fs
BLCATCGA-CU-A3YL-01exon_skip_16639
201980257201980421201980282201980282Frame_Shift_DelG-p.E6fs
BLCATCGA-CU-A3YL-01exon_skip_16651
exon_skip_16641
201980257201980427201980282201980282Frame_Shift_DelG-p.E6fs
STADTCGA-D7-A4YY-01exon_skip_16639
201980257201980421201980293201980293Frame_Shift_DelT-p.I10fs
STADTCGA-D7-A4YY-01exon_skip_16651
exon_skip_16641
201980257201980427201980293201980293Frame_Shift_DelT-p.I10fs
BLCATCGA-GD-A3OP-01exon_skip_16639
201980257201980421201980309201980309Frame_Shift_DelC-p.F15fs
BLCATCGA-GD-A3OP-01exon_skip_16651
exon_skip_16641
201980257201980427201980309201980309Frame_Shift_DelC-p.F15fs
CHOLTCGA-4G-AAZT-01exon_skip_16639
201980257201980421201980321201980334Frame_Shift_DelCAGCTCGGAGGACT-p.19_23del
CHOLTCGA-4G-AAZT-01exon_skip_16639
201980257201980421201980321201980334Frame_Shift_DelCAGCTCGGAGGACT-p.YSSEDS19fs
CHOLTCGA-4G-AAZT-01exon_skip_16651
exon_skip_16641
201980257201980427201980321201980334Frame_Shift_DelCAGCTCGGAGGACT-p.19_23del
CHOLTCGA-4G-AAZT-01exon_skip_16651
exon_skip_16641
201980257201980427201980321201980334Frame_Shift_DelCAGCTCGGAGGACT-p.YSSEDS19fs
COADTCGA-G4-6306-01exon_skip_16639
201980257201980421201980352201980352Frame_Shift_DelC-p.V29fs
COADTCGA-G4-6306-01exon_skip_16651
exon_skip_16641
201980257201980427201980352201980352Frame_Shift_DelC-p.V29fs
LUADTCGA-55-7227-01exon_skip_16656
201981085201981306201981157201981164Frame_Shift_DelAAGTGGAG-p.QVE79fs
BLCATCGA-GD-A3OP-01exon_skip_16663
201981472201981564201981483201981484Frame_Shift_DelTC-p.S133fs
BLCATCGA-GD-A2C5-01exon_skip_16663
201981472201981564201981484201981494Frame_Shift_DelCTGATGAGCTC-p.S133fs
BLCATCGA-GD-A2C5-01exon_skip_16663
201981472201981564201981484201981494Frame_Shift_DelCTGATGAGCTC-p.SDEL133fs
LIHCTCGA-DD-A3A0-01exon_skip_16671
201981768201981887201981852201981852Frame_Shift_DelC-p.A188fs
LIHCTCGA-DD-A39Y-01exon_skip_16671
201981768201981887201981862201981862Frame_Shift_DelT-p.P191fs
LUADTCGA-55-7573-01exon_skip_16691
201982957201983152201983060201983060Frame_Shift_DelC-p.F303fs
BLCATCGA-5N-A9KM-01exon_skip_16639
201980257201980421201980398201980399Frame_Shift_Ins-Cp.N46fs
BLCATCGA-5N-A9KM-01exon_skip_16651
exon_skip_16641
201980257201980427201980398201980399Frame_Shift_Ins-Cp.N46fs
KIRPTCGA-DW-7834-01exon_skip_16639
201980257201980421201980419201980420Frame_Shift_Ins-Gp.E52fs
KIRPTCGA-DW-7834-01exon_skip_16639
201980257201980421201980419201980420Frame_Shift_Ins-Gp.G52fs
KIRPTCGA-DW-7834-01exon_skip_16651
exon_skip_16641
201980257201980427201980419201980420Frame_Shift_Ins-Gp.E52fs
KIRPTCGA-DW-7834-01exon_skip_16651
exon_skip_16641
201980257201980427201980419201980420Frame_Shift_Ins-Gp.G52fs
LIHCTCGA-2Y-A9H5-01exon_skip_16656
201981085201981306201981100201981101Frame_Shift_Ins-Gp.L60fs
COADTCGA-G4-6293-01exon_skip_16656
201981085201981306201981118201981119Frame_Shift_Ins-Cp.F66fs
STADTCGA-B7-5816-01exon_skip_16656
201981085201981306201981267201981268Frame_Shift_Ins-CTp.P116fs
STADTCGA-B7-5816-01exon_skip_16656
201981085201981306201981268201981269Frame_Shift_Ins-CTp.P116fs
BLCATCGA-FD-A62O-01exon_skip_16656
201981085201981306201981271201981272Frame_Shift_Ins-Gp.LG117fs
BLCATCGA-GV-A3JV-01exon_skip_16663
201981472201981564201981520201981521Frame_Shift_Ins-Gp.D146fs
BLCATCGA-GV-A3JV-01exon_skip_16663
201981472201981564201981520201981521Frame_Shift_Ins-Gp.K145fs
BLCATCGA-ZF-AA56-01exon_skip_16663
201981472201981564201981535201981536Frame_Shift_Ins-Cp.Q151fs
STADTCGA-CG-4477-01exon_skip_16663
201981472201981564201981535201981536Frame_Shift_Ins-Cp.F150fs
STADTCGA-CG-4477-01exon_skip_16663
201981472201981564201981536201981537Frame_Shift_Ins-Cp.F150fs
READTCGA-EI-6514-01exon_skip_16671
201981768201981887201981773201981774Frame_Shift_Ins-GCp.G162fs
BLCATCGA-BT-A20Q-01exon_skip_16671
201981768201981887201981870201981871Frame_Shift_Ins-Tp.D195fs
BLCATCGA-BT-A20Q-01exon_skip_16671
201981768201981887201981870201981871Frame_Shift_Ins-Tp.S194fs
STADTCGA-CG-4469-01exon_skip_16674
201982075201982164201982111201982112Frame_Shift_Ins-CGGTGp.S212fs
STADTCGA-CG-4469-01exon_skip_16674
201982075201982164201982112201982113Frame_Shift_Ins-CGGTGp.S212fs
BLCATCGA-KQ-A41O-01exon_skip_16674
201982075201982164201982128201982129Frame_Shift_Ins-Ap.D218fs
COADTCGA-F4-6461-01exon_skip_16674
201982075201982164201982163201982164Frame_Shift_Ins-Gp.S229fs
READTCGA-AG-3599-01exon_skip_16691
201982957201983152201983015201983016Frame_Shift_Ins-AACGp.L288fs
READTCGA-AH-6643-01exon_skip_16691
201982957201983152201983018201983019Frame_Shift_Ins-Gp.N289fs
BLCATCGA-FD-A3SQ-01exon_skip_16691
201982957201983152201983027201983028Frame_Shift_Ins-Ap.L292fs
BLCATCGA-FD-A3SQ-01exon_skip_16691
201982957201983152201983027201983028Frame_Shift_Ins-Ap.M293fs
BLCATCGA-CF-A47X-01exon_skip_16639
201980257201980421201980326201980326Nonsense_MutationCAp.S21*
BLCATCGA-CF-A47X-01exon_skip_16651
exon_skip_16641
201980257201980427201980326201980326Nonsense_MutationCAp.S21*
CESCTCGA-C5-A3HE-01exon_skip_16656
201981085201981306201981105201981105Nonsense_MutationGTp.E62*
ESCATCGA-L5-A4OH-01exon_skip_16656
201981085201981306201981121201981121Nonsense_MutationGAp.W67*
ESCATCGA-L5-A4OH-01exon_skip_16656
201981085201981306201981121201981121Nonsense_MutationGAp.W67X
PAADTCGA-2J-AAB1-01exon_skip_16656
201981085201981306201981145201981145Nonsense_MutationGAp.W75*
PAADTCGA-2J-AAB1-01exon_skip_16656
201981085201981306201981145201981145Nonsense_MutationGAp.W75X
BLCATCGA-KQ-A41N-01exon_skip_16656
201981085201981306201981146201981146Nonsense_MutationGAp.W75*
BLCATCGA-G2-A2EO-01exon_skip_16671
201981768201981887201981809201981809Nonsense_MutationCTp.Q174*
BLCATCGA-GU-AATP-01exon_skip_16663
201981472201981564201981563201981565Splice_SiteTGG-p.159_160FG>L
BLCATCGA-ZF-A9R4-01exon_skip_16663
201981472201981564201981563201981565Splice_SiteTGG-p.159_160FG>L
BLCATCGA-E5-A2PC-01exon_skip_16691
201982957201983152201983137201983153Splice_SiteTGAGCCGGGCCATGAGG-p.LSRAMR329fs
BLCATCGA-E5-A2PC-01exon_skip_16691
201982957201983152201983137201983153Splice_SiteTGAGCCGGGCCATGAGG-p.R334_splice

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
HEC59_ENDOMETRIUM201980257201980427201980293201980293Frame_Shift_DelT-p.I10fs
HEC59_ENDOMETRIUM201980257201980421201980293201980293Frame_Shift_DelT-p.I10fs
SNU1040_LARGE_INTESTINE201980257201980427201980293201980293Frame_Shift_DelT-p.I10fs
SNU1040_LARGE_INTESTINE201980257201980421201980293201980293Frame_Shift_DelT-p.I10fs
AN3CA_ENDOMETRIUM201981768201981887201981852201981852Frame_Shift_DelC-p.A188fs
RT4_URINARY_TRACT201982075201982164201982124201982130Frame_Shift_DelCGTGGAC-p.DVD216fs
LS180_LARGE_INTESTINE201982957201983152201983110201983111Frame_Shift_DelAG-p.K320fs
MKN45_STOMACH201981472201981564201981481201981482Frame_Shift_Ins-Tp.S133fs
NCIN87_STOMACH201982957201983152201983068201983069Frame_Shift_Ins-GCp.LR306fs
SNU1196_BILIARY_TRACT201982957201983152201983126201983127Frame_Shift_Ins-Tp.Y326fs
SNGM_ENDOMETRIUM201980257201980427201980275201980275Missense_MutationCAp.T4N
SNGM_ENDOMETRIUM201980257201980421201980275201980275Missense_MutationCAp.T4N
HGC27_STOMACH201980257201980427201980323201980323Missense_MutationGAp.S20N
HGC27_STOMACH201980257201980421201980323201980323Missense_MutationGAp.S20N
HCT15_LARGE_INTESTINE201981085201981306201981111201981111Missense_MutationCAp.P64T
HCC515_LUNG201981085201981306201981133201981133Missense_MutationATp.Q71L
SNU81_LARGE_INTESTINE201981085201981306201981197201981197Missense_MutationCAp.F92L
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE201981085201981306201981219201981219Missense_MutationGAp.A100T
SW1116_LARGE_INTESTINE201981085201981306201981246201981246Missense_MutationGAp.E109K
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE201981085201981306201981255201981255Missense_MutationCAp.L112M
MEWO_SKIN201981085201981306201981268201981268Missense_MutationCTp.P116L
TCYIK_CERVIX201981472201981564201981484201981484Missense_MutationCAp.S133Y
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE201981768201981887201981785201981785Missense_MutationGTp.A166S
NCIH358_LUNG201981768201981887201981818201981818Missense_MutationACp.S177R
LS1034_LARGE_INTESTINE201981768201981887201981867201981867Missense_MutationGAp.S193N
LS1034_MATCHED_NORMAL_TISSUE201981768201981887201981867201981867Missense_MutationGAp.S193N
TE4_OESOPHAGUS201982075201982164201982078201982078Missense_MutationCTp.T201I
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE201982075201982164201982089201982089Missense_MutationCGp.R205G
TCYIK_CERVIX201982075201982164201982089201982089Missense_MutationCTp.R205W
CW2_LARGE_INTESTINE201982075201982164201982162201982162Missense_MutationGTp.S229I
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE201982957201983152201982959201982959Missense_MutationCTp.P270S
UMUC6_URINARY_TRACT201982957201983152201982963201982963Missense_MutationGCp.R271T
SNUC2A_LARGE_INTESTINE201982957201983152201982974201982974Missense_MutationCAp.L275M
SNUC2B_LARGE_INTESTINE201982957201983152201982974201982974Missense_MutationCAp.L275M
SNU1040_LARGE_INTESTINE201982957201983152201982983201982983Missense_MutationTCp.F278L
22RV1_PROSTATE201982957201983152201983098201983098Missense_MutationGAp.G316D
TCYIK_CERVIX201981085201981306201981199201981199Nonsense_MutationCGp.S93*
CAL29_URINARY_TRACT201982957201983152201982957201982957Splice_SiteCTp.A269V
HCT15_LARGE_INTESTINE201980257201980427201980265201980265Start_Codon_SNPAGp.M1V
HCT15_LARGE_INTESTINE201980257201980421201980265201980265Start_Codon_SNPAGp.M1V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELF3

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 ELF3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELF3


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RelatedDrugs for ELF3

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ELF3

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ELF3C0005426Biliary Tract Neoplasm1CTD_human
ELF3C0273115Lung Injury1CTD_human