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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for EDC3

check button Gene summary
Gene informationGene symbol

EDC3

Gene ID

80153

Gene nameenhancer of mRNA decapping 3
SynonymsLSM16|MRT50|YJDC|YJEFN2|hYjeF_N2-15q23
Cytomap

15q24.1

Type of geneprotein-coding
Descriptionenhancer of mRNA-decapping protein 3LSM16 homolog (EDC3, S. cerevisiae)enhancer of mRNA decapping 3 homologyjeF N-terminal domain-containing protein 2yjeF domain containingyjeF domain-containing protein 1
Modification date20200327
UniProtAcc

H3BMB8,

H3BNJ7,

H3BPN4,

H3BPW9,

H3BQ37,

H3BQA1,

H3BQP5,

H3BSQ0,

H3BTD6,

H3BTF8,

H3BTH0,

H3BU87,

Q96F86,

Context

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

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Gene structures and expression levels for EDC3

check buttonSkipped 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.
all structure

ENSG00000179151
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EDC3

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_125904chr1574675031:74675142:74676941:74677022:74695880:7469598774676941:74677022
exon_skip_130308chr1574675031:74675142:74687091:74687179:74695880:7469593674687091:74687179
exon_skip_15294chr1574640561:74640619:74655733:74656068:74671455:7467159974655733:74656068
exon_skip_172089chr1574675031:74675142:74676941:74677022:74687091:7468717974676941:74677022
exon_skip_192459chr1574656020:74656068:74674961:74675142:74695880:7469593674674961:74675142
exon_skip_204669chr1574675031:74675142:74676941:74677022:74695880:7469593674676941:74677022
exon_skip_219266chr1574676941:74677022:74687091:74687179:74695880:7469593674687091:74687179
exon_skip_50856chr1574671662:74671774:74674961:74675142:74687091:7468717974674961:74675142
exon_skip_60292chr1574632733:74632946:74635409:74635626:74640466:7464061974635409:74635626
exon_skip_7233chr1574676941:74677022:74687091:74687179:74695880:7469598774687091:74687179
exon_skip_87315chr1574656020:74656068:74671455:74671774:74674961:7467514274671455:74671774
exon_skip_9558chr1574655733:74656068:74671455:74671774:74674961:7467514274671455:74671774

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for EDC3

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000042679774676941746770223UTR-3UTR
ENST0000056817674687091746871793UTR-3UTR
ENST000003151277467145574671774Frame-shift
ENST000004267977467145574671774Frame-shift
ENST000005681767467145574671774Frame-shift
ENST000003151277465573374656068In-frame
ENST000004267977465573374656068In-frame
ENST000005681767465573374656068In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000056817674674961746751423UTR-3CDS
ENST0000042679774676941746770223UTR-3UTR
ENST0000056817674687091746871793UTR-3UTR

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000056817674674961746751423UTR-3CDS
ENST0000042679774676941746770223UTR-3UTR
ENST0000056817674687091746871793UTR-3UTR
ENST000003151277463540974635626Frame-shift
ENST000004267977463540974635626Frame-shift
ENST000005681767463540974635626Frame-shift
ENST000003151277467145574671774Frame-shift
ENST000004267977467145574671774Frame-shift
ENST000005681767467145574671774Frame-shift
ENST000003151277465573374656068In-frame
ENST000004267977465573374656068In-frame
ENST000005681767465573374656068In-frame

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Infer the effects of exon skipping event on protein functional features for EDC3

p-ENSG00000179151_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000315127378050874655733746560686671001161273
ENST00000426797211050874655733746560689481282161273
ENST00000568176184250874655733746560687131047161273

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000315127378050874655733746560686671001161273
ENST00000426797211050874655733746560689481282161273
ENST00000568176184250874655733746560687131047161273

check button 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 featureDescription of feature
Q96F86161273270272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D3K
Q96F86161273270272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D3K
Q96F86161273270272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D3K
Q96F861612731508ChainID=PRO_0000119054;Note=Enhancer of mRNA-decapping protein 3
Q96F861612731508ChainID=PRO_0000119054;Note=Enhancer of mRNA-decapping protein 3
Q96F861612731508ChainID=PRO_0000119054;Note=Enhancer of mRNA-decapping protein 3
Q96F86161273192228DomainNote=DFDF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00845
Q96F86161273192228DomainNote=DFDF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00845
Q96F86161273192228DomainNote=DFDF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00845
Q96F86161273206210HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273206210HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273206210HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273215225HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273215225HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273215225HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163
Q96F86161273161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163
Q96F86161273161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163
Q96F86161273204204MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-206. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273204204MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-206. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273204204MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-206. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273206206MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-204. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273206206MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-204. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273206206MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-204. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273191296RegionNote=Required for interaction with DDX6;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96F86161273191296RegionNote=Required for interaction with DDX6;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96F86161273191296RegionNote=Required for interaction with DDX6;Ontology_term=ECO:0000250;evidence=ECO:0000250

check button 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 featureDescription of feature

check button 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 featureDescription of feature
Q96F86161273270272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D3K
Q96F86161273270272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D3K
Q96F86161273270272Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D3K
Q96F861612731508ChainID=PRO_0000119054;Note=Enhancer of mRNA-decapping protein 3
Q96F861612731508ChainID=PRO_0000119054;Note=Enhancer of mRNA-decapping protein 3
Q96F861612731508ChainID=PRO_0000119054;Note=Enhancer of mRNA-decapping protein 3
Q96F86161273192228DomainNote=DFDF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00845
Q96F86161273192228DomainNote=DFDF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00845
Q96F86161273192228DomainNote=DFDF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00845
Q96F86161273206210HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273206210HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273206210HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273215225HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273215225HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273215225HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WAX
Q96F86161273161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163
Q96F86161273161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163
Q96F86161273161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:20068231,PMID:23186163
Q96F86161273204204MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-206. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273204204MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-206. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273204204MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-206. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273206206MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-204. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273206206MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-204. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273206206MutagenesisNote=Abolishes interaction with DDX6%3B when associated with A-204. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19285948;Dbxref=PMID:19285948
Q96F86161273191296RegionNote=Required for interaction with DDX6;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96F86161273191296RegionNote=Required for interaction with DDX6;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96F86161273191296RegionNote=Required for interaction with DDX6;Ontology_term=ECO:0000250;evidence=ECO:0000250


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3'-UTR located exon skipping events that lost miRNA binding sites in EDC3

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000005681767468709174687179hsa-miR-6747-3pchr15:74687120-746871278mer-1achr15:74687108-74687131164.00-23.50
MayoENST000004267977467694174677022hsa-miR-6755-3pchr15:74676969-746769768mer-1achr15:74676954-74676976161.00-15.89
MayoENST000004267977467694174677022hsa-miR-4697-3pchr15:74676966-746769738mer-1achr15:74676954-74676976161.00-15.89
MayoENST000004267977467694174677022hsa-miR-4310chr15:74676980-746769878mer-1achr15:74676976-74676996156.00-19.83
MayoENST000004267977467694174677022hsa-miR-7157-5pchr15:74676980-746769878mer-1achr15:74676976-74676996156.00-19.83
MayoENST000005681767468709174687179hsa-miR-4452chr15:74687145-746871528mer-1achr15:74687130-74687152189.00-31.72
MayoENST000004267977467694174677022hsa-miR-5004-3pchr15:74676957-746769648mer-1achr15:74676954-74676976161.00-15.89
MayoENST000005681767468709174687179hsa-miR-3690chr15:74687139-746871468mer-1achr15:74687130-74687152189.00-31.72
MSBBENST000005681767468709174687179hsa-miR-6747-3pchr15:74687120-746871278mer-1achr15:74687108-74687131164.00-23.50
MSBBENST000004267977467694174677022hsa-miR-6755-3pchr15:74676969-746769768mer-1achr15:74676954-74676976161.00-15.89
MSBBENST000004267977467694174677022hsa-miR-4697-3pchr15:74676966-746769738mer-1achr15:74676954-74676976161.00-15.89
MSBBENST000004267977467694174677022hsa-miR-4310chr15:74676980-746769878mer-1achr15:74676976-74676996156.00-19.83
MSBBENST000004267977467694174677022hsa-miR-7157-5pchr15:74676980-746769878mer-1achr15:74676976-74676996156.00-19.83
MSBBENST000005681767468709174687179hsa-miR-4452chr15:74687145-746871528mer-1achr15:74687130-74687152189.00-31.72
MSBBENST000004267977467694174677022hsa-miR-5004-3pchr15:74676957-746769648mer-1achr15:74676954-74676976161.00-15.89
MSBBENST000005681767468709174687179hsa-miR-3690chr15:74687139-746871468mer-1achr15:74687130-74687152189.00-31.72
ROSMAPENST000005681767468709174687179hsa-miR-6747-3pchr15:74687120-746871278mer-1achr15:74687108-74687131164.00-23.50
ROSMAPENST000004267977467694174677022hsa-miR-6755-3pchr15:74676969-746769768mer-1achr15:74676954-74676976161.00-15.89
ROSMAPENST000004267977467694174677022hsa-miR-4697-3pchr15:74676966-746769738mer-1achr15:74676954-74676976161.00-15.89
ROSMAPENST000004267977467694174677022hsa-miR-4310chr15:74676980-746769878mer-1achr15:74676976-74676996156.00-19.83
ROSMAPENST000004267977467694174677022hsa-miR-7157-5pchr15:74676980-746769878mer-1achr15:74676976-74676996156.00-19.83
ROSMAPENST000005681767468709174687179hsa-miR-4452chr15:74687145-746871528mer-1achr15:74687130-74687152189.00-31.72
ROSMAPENST000004267977467694174677022hsa-miR-5004-3pchr15:74676957-746769648mer-1achr15:74676954-74676976161.00-15.89
ROSMAPENST000005681767468709174687179hsa-miR-3690chr15:74687139-746871468mer-1achr15:74687130-74687152189.00-31.72

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SNVs in the skipped exons for EDC3

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for EDC3

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EDC3

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for EDC3

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for EDC3

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

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RelatedDiseases for EDC3

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource