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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 ECD

check button Gene summary
Gene informationGene symbol

ECD

Gene ID

11319

Gene nameecdysoneless cell cycle regulator
SynonymsGCR2|HSGT1|SGT1
Cytomap

10q22.2

Type of geneprotein-coding
Descriptionprotein ecdysoneless homologecdysoneless homologhuman suppressor of GCR twoprotein SGT1suppressor of GCR2suppressor of S. cerevisiae gcr2
Modification date20180523
UniProtAcc

O95905

ContextPubMed: ECD [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
ECD

GO:0045944

positive regulation of transcription by RNA polymerase II

19919181


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Exon skipping events across known transcript of Ensembl for ECD 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 ECD

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 ECD

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENSG00000122882.6ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2
exon_skip_509251074899388:74899495:74901144:74901243:74906033:7490610974901144:74901243ENSG00000122882.6ENST00000430082.2
exon_skip_509271074899388:74899495:74906033:74906119:74908033:7490816274906033:74906119ENSG00000122882.6ENST00000454759.2,ENST00000372979.4,ENST00000484976.2
exon_skip_509281074908033:74908162:74912050:74912179:74914013:7491415374912050:74912179ENSG00000122882.6ENST00000430082.2,ENST00000372979.4
exon_skip_509301074912103:74912179:74914013:74914206:74916032:7491621174914013:74914206ENSG00000122882.6ENST00000453402.1,ENST00000430082.2,ENST00000372979.4
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENSG00000122882.6ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1
exon_skip_509341074916346:74916413:74920191:74920309:74927623:7492770674920191:74920309ENSG00000122882.6ENST00000453402.1,ENST00000484976.2
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENSG00000122882.6ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1

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

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Exon skipping events with PSIs in GTEx for ECD

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENSG00000122882.6ENST00000372979.4,ENST00000484976.2,ENST00000454759.2,ENST00000430082.2
exon_skip_509251074899388:74899495:74901144:74901243:74906033:7490610974901144:74901243ENSG00000122882.6ENST00000430082.2
exon_skip_509271074899388:74899495:74906033:74906119:74908033:7490816274906033:74906119ENSG00000122882.6ENST00000372979.4,ENST00000484976.2,ENST00000454759.2
exon_skip_509281074908033:74908162:74912050:74912179:74914013:7491415374912050:74912179ENSG00000122882.6ENST00000372979.4,ENST00000430082.2
exon_skip_509301074912103:74912179:74914013:74914206:74916032:7491621174914013:74914206ENSG00000122882.6ENST00000372979.4,ENST00000430082.2,ENST00000453402.1
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENSG00000122882.6ENST00000372979.4,ENST00000454759.2,ENST00000430082.2,ENST00000453402.1,ENST00000413026.1
exon_skip_509341074916346:74916413:74920191:74920309:74927623:7492770674920191:74920309ENSG00000122882.6ENST00000484976.2,ENST00000453402.1
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENSG00000122882.6ENST00000372979.4,ENST00000454759.2,ENST00000430082.2,ENST00000413026.1

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 ECD

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
ENST0000037297974923490749237083UTR-3CDS
ENST000003729797489776074897828Frame-shift
ENST000003729797490603374906119Frame-shift
ENST000003729797491401374914206Frame-shift
ENST000003729797491603274916211Frame-shift
ENST000003729797491205074912179In-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
ENST0000037297974923490749237083UTR-3CDS
ENST000003729797489776074897828Frame-shift
ENST000003729797490603374906119Frame-shift
ENST000003729797491401374914206Frame-shift
ENST000003729797491603274916211Frame-shift
ENST000003729797491205074912179In-frame

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

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
ENST00000372979308664474912050749121799911119261304

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
ENST00000372979308664474912050749121799911119261304

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
O95905261304262304Alternative sequenceID=VSP_045670;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
O959052613041644ChainID=PRO_0000220844;Note=Protein ecdysoneless homolog
O95905261304281281Natural variantID=VAR_012191;Note=Could be a rare polymorphism. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11090341;Dbxref=dbSNP:rs151023501,PMID:11090341


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
O95905261304262304Alternative sequenceID=VSP_045670;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
O959052613041644ChainID=PRO_0000220844;Note=Protein ecdysoneless homolog
O95905261304281281Natural variantID=VAR_012191;Note=Could be a rare polymorphism. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11090341;Dbxref=dbSNP:rs151023501,PMID:11090341


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SNVs in the skipped exons for ECD

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.
ECD_STAD_exon_skip_50930_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_50921
74897761748978287489778674897786Frame_Shift_DelA-p.F488fs
LIHCTCGA-G3-A3CJ-01exon_skip_50932
74916033749162117491608274916082Frame_Shift_DelT-p.I181fs
KIRPTCGA-5P-A9K6-01exon_skip_50934
74920192749203097492030474920308Frame_Shift_DelCACCT-p.70_71del
LIHCTCGA-G3-A3CJ-01exon_skip_50937
74923491749237087492368674923686Frame_Shift_DelT-p.T4fs
STADTCGA-FP-8631-01exon_skip_50930
74914014749142067491419274914193Frame_Shift_Ins-Tp.I202fs
STADTCGA-BR-6565-01exon_skip_50927
74906034749061197490605274906052Nonsense_MutationGCp.S370*
STADTCGA-BR-6565-01exon_skip_50927
74906034749061197490605274906052Nonsense_MutationGCp.S370X
HNSCTCGA-CN-A6V1-01exon_skip_50930
74914014749142067491417574914175Nonsense_MutationGAp.R208*
KIRPTCGA-5P-A9K6-01exon_skip_50934
74920192749203097492031174920311Splice_SiteTG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ECD_74912103_74912179_74914013_74914206_74916032_74916211_TCGA-FP-8631-01Sample: TCGA-FP-8631-01
Cancer type: STAD
ESID: exon_skip_50930
Skipped exon start: 74914014
Skipped exon end: 74914206
Mutation start: 74914192
Mutation end: 74914193
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I202fs
exon_skip_50930_STAD_TCGA-FP-8631-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MDAMB453_BREAST74906034749061197490608474906105Frame_Shift_DelCCTTTCCCGGTACTGAGCAGAA-p.GSAQYRER352fs
HCC2998_LARGE_INTESTINE74897761748978287489779074897790Missense_MutationGTp.S487Y
SNGM_ENDOMETRIUM74897761748978287489779674897796Missense_MutationGAp.A485V
KM12_LARGE_INTESTINE74914014749142067491410674914106Missense_MutationCTp.A231T
HEC265_ENDOMETRIUM74914014749142067491413874914138Missense_MutationAGp.V220A
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74916033749162117491604374916043Missense_MutationGAp.R194C
SNU1040_LARGE_INTESTINE74916033749162117491604374916043Missense_MutationGAp.R194C
253JBV_URINARY_TRACT74916033749162117491618674916186Missense_MutationCTp.C146Y
HCC2998_LARGE_INTESTINE74916033749162117491620674916206Missense_MutationACp.F139L
MFE319_ENDOMETRIUM74920192749203097492023874920238Missense_MutationATp.Y93N
KMRC3_KIDNEY74920192749203097492028374920283Missense_MutationCTp.V78M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74920192749203097492030474920304Missense_MutationCTp.V71I
AM38_CENTRAL_NERVOUS_SYSTEM74923491749237087492352574923525Missense_MutationACp.N57K
HCT116_LARGE_INTESTINE74923491749237087492360874923608Missense_MutationTCp.K30E
KM12_LARGE_INTESTINE74912051749121797491207774912077Nonsense_MutationGAp.R296*
JHUEM7_ENDOMETRIUM74923491749237087492369474923694Start_Codon_SNPAGp.M1T

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1CESCrs3812619chr10:74923562C/T1.53e-04
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1HNSCrs3812619chr10:74923562C/T8.19e-04
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1KIRPrs3812619chr10:74923562C/T2.32e-04
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1LGGrs3812619chr10:74923562C/T5.14e-04
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1KIRCrs3812619chr10:74923562C/T2.59e-04
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1LUADrs3812619chr10:74923562C/T2.67e-03
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1LIHCrs3812619chr10:74923562C/T5.65e-05
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1OVrs3812619chr10:74923562C/T2.62e-06
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1PRADrs3812619chr10:74923562C/T1.09e-04
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1STADrs3812619chr10:74923562C/T1.18e-03
exon_skip_509371074920203:74920309:74923490:74923708:74927623:7492770674923490:74923708ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1THCArs3812619chr10:74923562C/T2.74e-07
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1CESCrs12241093chr10:74916173T/A6.90e-04
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1HNSCrs12241093chr10:74916173T/A9.88e-04
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1BRCArs12241093chr10:74916173T/A2.79e-05
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1KIRPrs12241093chr10:74916173T/A1.87e-04
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1LGGrs12241093chr10:74916173T/A2.26e-03
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1KIRCrs12241093chr10:74916173T/A4.32e-04
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1LUADrs12241093chr10:74916173T/A1.09e-03
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1LIHCrs12241093chr10:74916173T/A9.82e-05
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1OVrs12241093chr10:74916173T/A5.01e-05
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1PRADrs12241093chr10:74916173T/A2.49e-03
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1STADrs12241093chr10:74916173T/A6.34e-04
exon_skip_509321074914067:74914206:74916032:74916211:74916325:7491633574916032:74916211ENST00000453402.1,ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000413026.1THCArs12241093chr10:74916173T/A2.15e-06
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2CESCrs2271905chr10:74897816C/T2.52e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2HNSCrs2271905chr10:74897816C/T6.08e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2KIRPrs2271905chr10:74897816C/T2.32e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2LGGrs2271905chr10:74897816C/T5.98e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2KIRCrs2271905chr10:74897816C/T3.12e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2LUADrs2271905chr10:74897816C/T2.29e-03
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2LIHCrs2271905chr10:74897816C/T7.24e-05
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2PRADrs2271905chr10:74897816C/T1.09e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2STADrs2271905chr10:74897816C/T8.62e-04
exon_skip_509211074896461:74896676:74897760:74897828:74899066:7489925374897760:74897828ENST00000430082.2,ENST00000454759.2,ENST00000372979.4,ENST00000484976.2THCArs2271905chr10:74897816C/T2.74e-07

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


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


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RelatedDrugs for ECD

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 ECD

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