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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 CDH1

check button Gene summary
Gene informationGene symbol

CDH1

Gene ID

999

Gene namecadherin 1
SynonymsArc-1|BCDS1|CD324|CDHE|ECAD|LCAM|UVO
Cytomap

16q22.1

Type of geneprotein-coding
Descriptioncadherin-1CAM 120/80E-cadherin 1cadherin 1, E-cadherin (epithelial)cadherin 1, type 1, E-cadherin (epithelial)calcium-dependent adhesion protein, epithelialcell-CAM 120/80epithelial cadherinuvomorulin
Modification date20180527
UniProtAcc

P12830

ContextPubMed: CDH1 [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
CDH1

GO:0042307

positive regulation of protein import into nucleus

16338932

CDH1

GO:0045893

positive regulation of transcription, DNA-templated

16338932

CDH1

GO:0071285

cellular response to lithium ion

12937339

CDH1

GO:0071681

cellular response to indole-3-methanol

10868478

CDH1

GO:0072659

protein localization to plasma membrane

17620337

CDH1

GO:0098609

cell-cell adhesion

16338932|18593713


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Exon skipping events across known transcript of Ensembl for CDH1 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 CDH1

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 CDH1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1380881668771254:68771366:68772199:68772314:68835572:6883579668772199:68772314ENSG00000039068.14ENST00000566510.1,ENST00000566612.1,ENST00000422392.2
exon_skip_1380911668842326:68842470:68842595:68842751:68844099:6884416568842595:68842751ENSG00000039068.14ENST00000562836.1,ENST00000261769.5,ENST00000566612.1,ENST00000422392.2
exon_skip_1380941668842595:68842751:68844099:68844244:68845586:6884576268844099:68844244ENSG00000039068.14ENST00000562836.1,ENST00000261769.5,ENST00000566612.1,ENST00000422392.2
exon_skip_1380951668846037:68846166:68847215:68847398:68849417:6884966268847215:68847398ENSG00000039068.14ENST00000562836.1,ENST00000261769.5,ENST00000566612.1
exon_skip_1380971668846037:68846166:68847215:68847465:68849417:6884966268847215:68847465ENSG00000039068.14ENST00000566510.1
exon_skip_1381001668849417:68849662:68853182:68853328:68855903:6885612868853182:68853328ENSG00000039068.14ENST00000566510.1,ENST00000562836.1,ENST00000261769.5,ENST00000422392.2
exon_skip_1381051668855903:68856128:68857301:68857529:68862076:6886220768857301:68857529ENSG00000039068.14ENST00000566510.1,ENST00000562836.1,ENST00000261769.5,ENST00000566612.1,ENST00000422392.2
exon_skip_1381071668857301:68857529:68862076:68862207:68863556:6886370068862076:68862207ENSG00000039068.14ENST00000566510.1,ENST00000562118.1,ENST00000562836.1,ENST00000261769.5,ENST00000566612.1,ENST00000422392.2

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

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Exon skipping events with PSIs in GTEx for CDH1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1380881668771254:68771366:68772199:68772314:68835572:6883579668772199:68772314ENSG00000039068.14ENST00000566612.1,ENST00000422392.2,ENST00000566510.1
exon_skip_1380911668842326:68842470:68842595:68842751:68844099:6884416568842595:68842751ENSG00000039068.14ENST00000261769.5,ENST00000566612.1,ENST00000422392.2,ENST00000562836.1
exon_skip_1380941668842595:68842751:68844099:68844244:68845586:6884576268844099:68844244ENSG00000039068.14ENST00000261769.5,ENST00000566612.1,ENST00000422392.2,ENST00000562836.1
exon_skip_1380951668846037:68846166:68847215:68847398:68849417:6884966268847215:68847398ENSG00000039068.14ENST00000261769.5,ENST00000566612.1,ENST00000562836.1
exon_skip_1380971668846037:68846166:68847215:68847465:68849417:6884966268847215:68847465ENSG00000039068.14ENST00000566510.1
exon_skip_1381001668849417:68849662:68853182:68853328:68855903:6885612868853182:68853328ENSG00000039068.14ENST00000261769.5,ENST00000422392.2,ENST00000566510.1,ENST00000562836.1
exon_skip_1381051668855903:68856128:68857301:68857529:68862076:6886220768857301:68857529ENSG00000039068.14ENST00000261769.5,ENST00000566612.1,ENST00000422392.2,ENST00000566510.1,ENST00000562836.1
exon_skip_1381071668857301:68857529:68862076:68862207:68863556:6886370068862076:68862207ENSG00000039068.14ENST00000261769.5,ENST00000566612.1,ENST00000422392.2,ENST00000566510.1,ENST00000562836.1,ENST00000562118.1

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 CDH1

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
ENST000002617696884409968844244Frame-shift
ENST000002617696885318268853328Frame-shift
ENST000002617696886207668862207Frame-shift
ENST000002617696884259568842751In-frame
ENST000002617696884721568847398In-frame
ENST000002617696885730168857529In-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
ENST000002617696884409968844244Frame-shift
ENST000002617696885318268853328Frame-shift
ENST000002617696886207668862207Frame-shift
ENST000002617696884259568842751In-frame
ENST000002617696884721568847398In-frame
ENST000002617696885730168857529In-frame

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Infer the effects of exon skipping event on protein functional features for CDH1

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
ENST0000026176949068826884259568842751723878177229
ENST000002617694906882688472156884739813291511379440
ENST000002617694906882688573016885752921282355645721

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
ENST0000026176949068826884259568842751723878177229
ENST000002617694906882688472156884739813291511379440
ENST000002617694906882688573016885752921282355645721

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
P12830177229169177Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229189195Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229199201Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229204207Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229213216Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229227235Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229155882ChainID=PRO_0000003716;Note=Cadherin-1
P12830177229155262DomainNote=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
P12830177229181184HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229193193Natural variantID=VAR_001307;Note=In a diffuse gastric cancer sample. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8797891;Dbxref=PMID:8797891
P12830177229155709Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P12830177229196198TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229209211TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229222224TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830379440380440Alternative sequenceID=VSP_055586;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
P12830379440155882ChainID=PRO_0000003716;Note=Cadherin-1
P12830379440376486DomainNote=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
P12830379440393393Natural variantID=VAR_048501;Note=I->N;Dbxref=dbSNP:rs34466743
P12830379440400400Natural variantID=VAR_001312;Note=In a gastric carcinoma sample%3B loss of heterozygosity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9045944;Dbxref=PMID:9045944
P12830379440418423Natural variantID=VAR_001313;Note=In a gastric carcinoma sample. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9045944;Dbxref=PMID:9045944
P12830379440155709Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P12830645721155882ChainID=PRO_0000003716;Note=Cadherin-1
P12830645721701882ChainID=PRO_0000236067;Note=E-Cad/CTF1
P12830645721594697DomainNote=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
P12830645721695695Natural variantID=VAR_021869;Note=C->R;Dbxref=dbSNP:rs9282655
P12830645721711711Natural variantID=VAR_001321;Note=Detected in an endometrial cancer sample. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8075649;Dbxref=dbSNP:rs121964871,PMID:8075649
P12830645721700701SiteNote=Cleavage%3B by a metalloproteinase
P12830645721155709Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P12830645721710730TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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
P12830177229169177Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229189195Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229199201Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229204207Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229213216Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229227235Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229155882ChainID=PRO_0000003716;Note=Cadherin-1
P12830177229155262DomainNote=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
P12830177229181184HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229193193Natural variantID=VAR_001307;Note=In a diffuse gastric cancer sample. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8797891;Dbxref=PMID:8797891
P12830177229155709Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P12830177229196198TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229209211TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830177229222224TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2OMZ
P12830379440380440Alternative sequenceID=VSP_055586;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5
P12830379440155882ChainID=PRO_0000003716;Note=Cadherin-1
P12830379440376486DomainNote=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
P12830379440393393Natural variantID=VAR_048501;Note=I->N;Dbxref=dbSNP:rs34466743
P12830379440400400Natural variantID=VAR_001312;Note=In a gastric carcinoma sample%3B loss of heterozygosity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9045944;Dbxref=PMID:9045944
P12830379440418423Natural variantID=VAR_001313;Note=In a gastric carcinoma sample. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9045944;Dbxref=PMID:9045944
P12830379440155709Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P12830645721155882ChainID=PRO_0000003716;Note=Cadherin-1
P12830645721701882ChainID=PRO_0000236067;Note=E-Cad/CTF1
P12830645721594697DomainNote=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043
P12830645721695695Natural variantID=VAR_021869;Note=C->R;Dbxref=dbSNP:rs9282655
P12830645721711711Natural variantID=VAR_001321;Note=Detected in an endometrial cancer sample. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8075649;Dbxref=dbSNP:rs121964871,PMID:8075649
P12830645721700701SiteNote=Cleavage%3B by a metalloproteinase
P12830645721155709Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P12830645721710730TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for CDH1

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.
CDH1_BRCA_exon_skip_138094_psi_boxplot.png
boxplot
CDH1_BRCA_exon_skip_138095_psi_boxplot.png
boxplot
CDH1_STAD_exon_skip_138094_psi_boxplot.png
boxplot
CDH1_STAD_exon_skip_138095_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
BRCATCGA-BH-A18P-0168772200687723146877225768772257Frame_Shift_DelA-p.S36fs
LIHCTCGA-G3-A3CJ-0168772200687723146877227568772275Frame_Shift_DelC-p.P42fs
LIHCTCGA-DD-A39Y-0168772200687723146877230768772307Frame_Shift_DelG-p.L52fs
BRCATCGA-B6-A0IP-0168844100688442446884410468844105Frame_Shift_DelTC-p.H233fs
LIHCTCGA-DD-A3A0-0168844100688442446884421168844211Frame_Shift_DelT-p.F267fs
LIHCTCGA-G3-A3CJ-0168844100688442446884421668844216Frame_Shift_DelG-p.K268fs
BRCATCGA-D8-A1X8-0168844100688442446884422368844232Frame_Shift_DelGTCATGGAAG-p.M272fs
UCECTCGA-A5-A0VO-01exon_skip_138100
68853183688533286885332868853328Frame_Shift_DelG-p.G571fs
UCECTCGA-A5-A0VO-01exon_skip_138100
68853183688533286885332868853328Frame_Shift_DelG-p.G571_splice
BRCATCGA-A8-A07F-01exon_skip_138105
68857302688575296885733168857337Frame_Shift_DelATGGCCT-p.M656fs
BRCATCGA-AO-A0J8-01exon_skip_138105
68857302688575296885748568857485Frame_Shift_DelT-p.P708fs
BRCATCGA-A2-A0SY-0168772200687723146877220368772204Frame_Shift_Ins-CAp.S19fs
BRCATCGA-A8-A0AB-01exon_skip_138095
68847216688473986884727868847279Frame_Shift_Ins-Ap.A400fs
BRCATCGA-A8-A0AB-01exon_skip_138097
68847216688474656884727868847279Frame_Shift_Ins-Ap.A400fs
BRCATCGA-AR-A24T-01exon_skip_138105
68857302688575296885731168857312Frame_Shift_Ins-Tp.I650fs
BRCATCGA-E2-A1IJ-01exon_skip_138105
68857302688575296885739768857398Frame_Shift_Ins-Tp.T679fs
KIRCTCGA-B4-5377-01exon_skip_138105
68857302688575296885748668857487Frame_Shift_Ins-Cp.I707fs
BRCATCGA-BH-A0E9-01exon_skip_138107
68862077688622076886217868862179Frame_Shift_Ins-ATp.E757fs
BRCATCGA-A2-A0T4-01exon_skip_138107
68862077688622076886217968862180Frame_Shift_Ins-Tp.E757fs
BRCATCGA-A8-A0A4-01exon_skip_138107
68862077688622076886220368862204Frame_Shift_Ins-Cp.Q765fs
BRCATCGA-B6-A0RQ-0168772200687723146877221868772218Nonsense_MutationCTp.Q23*
BRCATCGA-D8-A1XO-0168772200687723146877221868772218Nonsense_MutationCTp.Q23*
BRCATCGA-EW-A1J3-0168772200687723146877221868772218Nonsense_MutationCTp.Q23*
BRCATCGA-AO-A1KS-0168772200687723146877225468772254Nonsense_MutationGTp.E35*
READTCGA-F5-6814-01exon_skip_138091
68842596688427516884269268842692Nonsense_MutationGTp.E210X
BLCATCGA-KQ-A41S-01exon_skip_138091
68842596688427516884271668842716Nonsense_MutationGTp.E218*
BLCATCGA-DK-A6AW-01exon_skip_138105
68857302688575296885730768857307Nonsense_MutationGTp.E648*
BRCATCGA-EW-A1J2-01exon_skip_138105
68857302688575296885736768857367Nonsense_MutationATp.K668*
STADTCGA-D7-8574-01exon_skip_138091
68842596688427516884259568842595Splice_SiteGT.
STADTCGA-D7-8574-01exon_skip_138091
68842596688427516884259568842595Splice_SiteGTp.I178_splice
BRCATCGA-A2-A0EW-0168844100688442446884409868844098Splice_SiteAGe6-2
BRCATCGA-BH-A0HP-0168844100688442446884409968844099Splice_SiteGAe6-1
STADTCGA-BR-6566-0168844100688442446884409968844099Splice_SiteGA.
STADTCGA-BR-6566-0168844100688442446884409968844099Splice_SiteGAp.L230_splice
BRCATCGA-E2-A1L8-0168844100688442446884424568844245Splice_SiteGAe6+1
BRCATCGA-BH-A0C0-01exon_skip_138095
68847216688473986884739968847399Splice_SiteGCe9+1
STADTCGA-D7-6522-01exon_skip_138095
68847216688473986884739968847399Splice_SiteGT.
STADTCGA-D7-6522-01exon_skip_138095
68847216688473986884739968847399Splice_SiteGTp.K440_splice
BRCATCGA-AR-A24X-01exon_skip_138107
68862077688622076886207668862076Splice_SiteGTe14-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CDH1_68846037_68846166_68847215_68847398_68849417_68849662_TCGA-BH-A0C0-01Sample: TCGA-BH-A0C0-01
Cancer type: BRCA
ESID: exon_skip_138095
Skipped exon start: 68847216
Skipped exon end: 68847398
Mutation start: 68847399
Mutation end: 68847399
Mutation type: Splice_Site
Reference seq: G
Mutation seq: C
AAchange: e9+1
exon_skip_138095_BRCA_TCGA-BH-A0C0-01.png
boxplot
exon_skip_286384_BRCA_TCGA-BH-A0C0-01.png
boxplot
CDH1_68846037_68846166_68847215_68847398_68849417_68849662_TCGA-D7-6522-01Sample: TCGA-D7-6522-01
Cancer type: STAD
ESID: exon_skip_138095
Skipped exon start: 68847216
Skipped exon end: 68847398
Mutation start: 68847399
Mutation end: 68847399
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: .
CDH1_68846037_68846166_68847215_68847398_68849417_68849662_TCGA-D7-6522-01Sample: TCGA-D7-6522-01
Cancer type: STAD
ESID: exon_skip_138095
Skipped exon start: 68847216
Skipped exon end: 68847398
Mutation start: 68847399
Mutation end: 68847399
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: p.K440_splice
exon_skip_138095_STAD_TCGA-D7-6522-01.png
boxplot
CDH1_68842595_68842751_68844099_68844244_68845586_68845762_TCGA-E2-A1L8-01Sample: TCGA-E2-A1L8-01
Cancer type: BRCA
ESID:
Skipped exon start: 68844100
Skipped exon end: 68844244
Mutation start: 68844245
Mutation end: 68844245
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: e6+1
exon_skip_138094_BRCA_TCGA-E2-A1L8-01.png
boxplot
exon_skip_503284_BRCA_TCGA-E2-A1L8-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HKA1_SKIN68772200687723146877221968772219Missense_MutationAGp.Q23R
HEC108_ENDOMETRIUM68772200687723146877223368772233Missense_MutationTAp.C28S
NCIH2461_PLEURA68772200687723146877225768772257Missense_MutationATp.S36C
PC9_LUNG68772200687723146877226868772268Missense_MutationCAp.F39L
PC9_LUNG68772200687723146877227068772270Missense_MutationCAp.T40K
A253_SALIVARY_GLAND68772200687723146877227368772273Missense_MutationTAp.V41E
NCIH82_LUNG68772200687723146877228568772285Missense_MutationATp.H45L
SKLU1_LUNG68772200687723146877231268772312Missense_MutationGAp.R54K
OCUM1_STOMACH68842596688427516884269968842699Missense_MutationGAp.G212E
HCC2998_LARGE_INTESTINE68842596688427516884272968842729Missense_MutationGTp.R222I
RERFGC1B_STOMACH68844100688442446884416168844161Missense_MutationTAp.I250N
NUGC4_STOMACH68844100688442446884418268844182Missense_MutationATp.D257V
LN428_CENTRAL_NERVOUS_SYSTEM68844100688442446884421168844211Missense_MutationTCp.F267L
SW780_URINARY_TRACT68844100688442446884422968844229Missense_MutationGAp.E273K
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68844100688442446884423968844239Missense_MutationTCp.L276P
SNUC2A_LARGE_INTESTINE68847216688474656884727768847277Missense_MutationACp.D400A
SNUC2A_LARGE_INTESTINE68847216688473986884727768847277Missense_MutationACp.D400A
CAL148_BREAST68847216688474656884728268847282Missense_MutationGAp.D402N
CAL148_BREAST68847216688473986884728268847282Missense_MutationGAp.D402N
SCC15_UPPER_AERODIGESTIVE_TRACT68847216688474656884729268847292Missense_MutationAGp.N405S
SCC15_UPPER_AERODIGESTIVE_TRACT68847216688473986884729268847292Missense_MutationAGp.N405S
HEC108_ENDOMETRIUM68847216688474656884729468847294Missense_MutationAGp.T406A
HEC108_ENDOMETRIUM68847216688473986884729468847294Missense_MutationAGp.T406A
TOV21G_OVARY68847216688474656884730468847304Missense_MutationGTp.W409L
TOV21G_OVARY68847216688473986884730468847304Missense_MutationGTp.W409L
NCIH513_PLEURA68847216688474656884732268847322Missense_MutationTCp.I415T
NCIH513_PLEURA68847216688473986884732268847322Missense_MutationTCp.I415T
KYSE510_OESOPHAGUS68847216688474656884735868847358Missense_MutationCAp.T427K
KYSE510_OESOPHAGUS68847216688473986884735868847358Missense_MutationCAp.T427K
UMUC3_URINARY_TRACT68853183688533286885326268853262Missense_MutationGCp.D549H
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68857302688575296885735368857353Missense_MutationAGp.Y663C
KP4_PANCREAS68857302688575296885745768857457Missense_MutationGCp.A698P
LNCAPCLONEFGC_PROSTATE68857302688575296885746368857463Missense_MutationCTp.P700S
SISO_CERVIX68857302688575296885746468857464Missense_MutationCAp.P700H
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68857302688575296885746468857464Missense_MutationCAp.P700H
HCC2998_LARGE_INTESTINE68862077688622076886219868862198Missense_MutationACp.E762D
ZR7530_BREAST68844100688442446884413968844139Nonsense_MutationGTp.E243*
HT115_LARGE_INTESTINE68857302688575296885730768857307Nonsense_MutationGTp.E648*
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68862077688622076886214568862145Nonsense_MutationGTp.E745*
GCIY_STOMACH68842596688427516884275168842752Splice_SiteTG-p.T229fs
EVSAT_BREAST68842596688427516884275168842752Splice_SiteTG-p.T229fs
MKN45_STOMACH68844100688442446884423568844252Splice_SiteGCTCTTCCAGGTATATCC-p.ALPG275del

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDH1

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 CDH1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDH1


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RelatedDrugs for CDH1

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 CDH1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CDH1C0038356Stomach Neoplasms6CTD_human
CDH1C1458155Mammary Neoplasms4CTD_human
CDH1C0005695Bladder Neoplasm2CTD_human
CDH1C0009404Colorectal Neoplasms2CTD_human
CDH1C0023904Liver Neoplasms, Experimental2CTD_human
CDH1C0027626Neoplasm Invasiveness2CTD_human
CDH1C0027627Neoplasm Metastasis2CTD_human
CDH1C0033578Prostatic Neoplasms2CTD_human
CDH1C0206692Carcinoma, Lobular2CTD_human
CDH1C1134719Invasive Ductal Breast Carcinoma2CTD_human
CDH1C1708349Hereditary Diffuse Gastric Cancer2ORPHANET;UNIPROT
CDH1C2931456Prostate cancer, familial2CTD_human
CDH1C0007137Squamous cell carcinoma1CTD_human
CDH1C0007621Neoplastic Cell Transformation1CTD_human
CDH1C0009324Ulcerative Colitis1CTD_human
CDH1C0010606Adenoid Cystic Carcinoma1CTD_human
CDH1C0014170Endometrial Neoplasms1CTD_human
CDH1C0024667Animal Mammary Neoplasms1CTD_human
CDH1C0024668Mammary Neoplasms, Experimental1CTD_human
CDH1C0025500Mesothelioma1CTD_human
CDH1C0026936Mycoplasma Infections1CTD_human
CDH1C0027746Nerve Degeneration1CTD_human
CDH1C0030297Pancreatic Neoplasm1CTD_human
CDH1C0032927Precancerous Conditions1CTD_human
CDH1C0036095Salivary Gland Neoplasms1CTD_human
CDH1C0079487Helicobacter Infections1CTD_human
CDH1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
CDH1C0919267ovarian neoplasm1CTD_human