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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CDH1-YWHAH (FusionGDB2 ID:15049)

Fusion Gene Summary for CDH1-YWHAH

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH1-YWHAH
Fusion gene ID: 15049
HgeneTgene
Gene symbol

CDH1

YWHAH

Gene ID

51343

7533

Gene namefizzy and cell division cycle 20 related 1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta
SynonymsCDC20C|CDH1|FZR|FZR2|HCDH|HCDH1YWHA1
Cytomap

19p13.3

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionfizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 114-3-3 protein eta14-3-3 etatyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide
Modification date2020031320200327
UniProtAcc

P12830

.
Ensembl transtripts involved in fusion geneENST00000261769, ENST00000422392, 
ENST00000562836, 
ENST00000471374, 
ENST00000248975, ENST00000397492, 
Fusion gene scores* DoF score21 X 16 X 8=26889 X 7 X 6=378
# samples 2913
** MAII scorelog2(29/2688*10)=-3.21240833276383
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/378*10)=-1.53987461119262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDH1 [Title/Abstract] AND YWHAH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDH1(68772314)-YWHAH(32352126), # samples:1
Anticipated loss of major functional domain due to fusion event.CDH1-YWHAH seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CDH1-YWHAH seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCDH1

GO:0031145

anaphase-promoting complex-dependent catabolic process

18662541|21596315

HgeneCDH1

GO:0072425

signal transduction involved in G2 DNA damage checkpoint

18662541

HgeneCDH1

GO:1904668

positive regulation of ubiquitin protein ligase activity

11459826

TgeneYWHAH

GO:0002028

regulation of sodium ion transport

16728661

TgeneYWHAH

GO:0006713

glucocorticoid catabolic process

15790729

TgeneYWHAH

GO:0042921

glucocorticoid receptor signaling pathway

15790729

TgeneYWHAH

GO:0045893

positive regulation of transcription, DNA-templated

15790729

TgeneYWHAH

GO:0086010

membrane depolarization during action potential

16728661

TgeneYWHAH

GO:2000649

regulation of sodium ion transmembrane transporter activity

16728661


check buttonFusion gene breakpoints across CDH1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across YWHAH (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CD-5799-01ACDH1chr16

68772314

+YWHAHchr22

32352126

+


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Fusion Gene ORF analysis for CDH1-YWHAH

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000261769ENST00000471374CDH1chr16

68772314

+YWHAHchr22

32352126

+
5CDS-3UTRENST00000422392ENST00000471374CDH1chr16

68772314

+YWHAHchr22

32352126

+
Frame-shiftENST00000261769ENST00000248975CDH1chr16

68772314

+YWHAHchr22

32352126

+
Frame-shiftENST00000422392ENST00000248975CDH1chr16

68772314

+YWHAHchr22

32352126

+
In-frameENST00000261769ENST00000397492CDH1chr16

68772314

+YWHAHchr22

32352126

+
In-frameENST00000422392ENST00000397492CDH1chr16

68772314

+YWHAHchr22

32352126

+
intron-3CDSENST00000562836ENST00000248975CDH1chr16

68772314

+YWHAHchr22

32352126

+
intron-3CDSENST00000562836ENST00000397492CDH1chr16

68772314

+YWHAHchr22

32352126

+
intron-3UTRENST00000562836ENST00000471374CDH1chr16

68772314

+YWHAHchr22

32352126

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000261769CDH1chr1668772314+ENST00000397492YWHAHchr2232352126+1819354451007320
ENST00000422392CDH1chr1668772314+ENST00000397492YWHAHchr2232352126+169222735880281

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000261769ENST00000397492CDH1chr1668772314+YWHAHchr2232352126+0.0016050610.9983949
ENST00000422392ENST00000397492CDH1chr1668772314+YWHAHchr2232352126+0.0010977390.9989022

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Fusion Genomic Features for CDH1-YWHAH


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CDH1chr1668772314+YWHAHchr2232352125+2.41E-141
CDH1chr1668772314+YWHAHchr2232352125+2.41E-141

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for CDH1-YWHAH


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:68772314/chr22:32352126)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDH1

P12830

.
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7. {ECO:0000269|PubMed:11976333, ECO:0000269|PubMed:16417575}.; FUNCTION: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production. {ECO:0000269|PubMed:16417575}.; FUNCTION: (Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria. {ECO:0000269|PubMed:10406800, ECO:0000269|PubMed:17540170, ECO:0000269|PubMed:8601315}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216838_85154883.0Compositional biasNote=Ser-rich
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216155_26254883.0DomainCadherin 1
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216263_37554883.0DomainCadherin 2
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216376_48654883.0DomainCadherin 3
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216487_59354883.0DomainCadherin 4
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216594_69754883.0DomainCadherin 5
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216758_76954883.0RegionNote=Required for binding CTNND1 and PSEN1
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216811_88254883.0RegionNote=Required for binding alpha%2C beta and gamma catenins
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216155_70954883.0Topological domainExtracellular
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216731_88254883.0Topological domainCytoplasmic
HgeneCDH1chr16:68772314chr22:32352126ENST00000261769+216710_73054883.0TransmembraneHelical


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Fusion Gene Sequence for CDH1-YWHAH


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>15049_15049_1_CDH1-YWHAH_CDH1_chr16_68772314_ENST00000261769_YWHAH_chr22_32352126_ENST00000397492_length(transcript)=1819nt_BP=354nt
AGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCA
CCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTC
CCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGC
CCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGACA
GAGCTGAATGAACCTCTCTCCAATGAAGATCGAAATCTCCTCTCTGTGGCCTACAAGAATGTGGTTGGTGCCAGGCGATCTTCCTGGAGG
GTCATTAGCAGCATTGAGCAGAAAACCATGGCTGATGGAAACGAAAAGAAATTGGAGAAAGTTAAAGCTTACCGGGAGAAGATTGAGAAG
GAGCTGGAGACAGTTTGCAATGATGTCCTGTCTCTGCTTGACAAGTTCCTGATCAAGAACTGCAATGATTTCCAGTATGAGAGCAAGGTG
TTTTACCTGAAAATGAAGGGTGATTACTACCGCTACTTAGCAGAGGTCGCTTCTGGGGAGAAGAAAAACAGTGTGGTCGAAGCTTCTGAA
GCTGCCTACAAGGAAGCCTTTGAAATCAGCAAAGAGCAGATGCAACCCACGCATCCCATCCGGCTGGGCCTGGCCCTCAACTTCTCCGTG
TTCTACTATGAGATCCAGAATGCACCTGAGCAAGCCTGCCTCTTAGCCAAACAAGCCTTCGATGATGCCATAGCTGAGCTGGACACACTA
AACGAGGATTCCTATAAGGACTCCACGCTGATCATGCAGTTGCTGCGAGACAACCTCACCCTCTGGACGAGCGACCAGCAGGATGAAGAA
GCAGGAGAAGGCAACTGAAGATCCTTCAGGTCCCCTGGCCCTTCCTTCACCCACCACCCCCATCATCACCGATTCTTCCTTGCCACAATC
ACTAAATATCTAGTGCTAAACCTATCTGTATTGGCAGCACAGCTACTCAGATCTGCACTCCTGTCTCTTGGGAAGCAGTTTCAGATAAAT
CATGGGCATTGCTGGACTGATGGTTGCTTTGAGCCCACAGGAGCTCCCTTTTTGAATTGTGTGGAGAAGTGTGTTCTGATGAGGCATTTT
ACTATGCCTGTTGATCTATGGGAAATCTAGGCGAAAGTAATGGGGAAGATTAGAAAGAATTAGCCAACCAGGCTACAGTTGATATTTAAA
AGATCCATTTAAAACAAGCTGATAGTGTTTCGTTAAGCAGTACATCTTGTGCATGCAAAAATGAATTCACCCCTCCCACCTCTTTCTTCA
ATTAATGGAAAACTGTTAAGGGAAGCTGATACAGAGAGACAACTTGCTCCTTTCCATCAGCTTTATAATAAACTGTTTAACGTGAGGTTT
CAGTAGCTCCTTGGTTTTGCCTCTTTAAATTATGACGTGCACAAACCTTCTTTTCAATGCAATGCATCTGAAAGTTTTGATACTTGTAAC
TTTTTTTTTTTTTTGGTTGCAATTGTTTAAGAATCATGGATTTATTTTTTGTAACTCTTTGGCTATTGTCCTTGTGTATCCTGACAGCGC
CATGTGTGTCAGCCCATGTCAATCAAGATGGGTGATTATGAAATGCCAGACTTCTAAAATAAATGTTTTGGAATTCAATGGGTAAATAAA

>15049_15049_1_CDH1-YWHAH_CDH1_chr16_68772314_ENST00000261769_YWHAH_chr22_32352126_ENST00000397492_length(amino acids)=320AA_BP=103
MQPRTPSQWRRNCKAPVSLRKSVQTPARSSPARPDRTRRLPSLGVPGQPWALGAAASRRCCCCCRSPLGSARSRSPATLALTPRATRSRC
PGATWREAASWAEVTELNEPLSNEDRNLLSVAYKNVVGARRSSWRVISSIEQKTMADGNEKKLEKVKAYREKIEKELETVCNDVLSLLDK
FLIKNCNDFQYESKVFYLKMKGDYYRYLAEVASGEKKNSVVEASEAAYKEAFEISKEQMQPTHPIRLGLALNFSVFYYEIQNAPEQACLL

--------------------------------------------------------------
>15049_15049_2_CDH1-YWHAH_CDH1_chr16_68772314_ENST00000422392_YWHAH_chr22_32352126_ENST00000397492_length(transcript)=1692nt_BP=227nt
GCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTC
GGCGCTGCTGCTGCTGCTGCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTT
CACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGACAGAGCTGAATGAACCTCTCTCCAATGAAGATCGAAATC
TCCTCTCTGTGGCCTACAAGAATGTGGTTGGTGCCAGGCGATCTTCCTGGAGGGTCATTAGCAGCATTGAGCAGAAAACCATGGCTGATG
GAAACGAAAAGAAATTGGAGAAAGTTAAAGCTTACCGGGAGAAGATTGAGAAGGAGCTGGAGACAGTTTGCAATGATGTCCTGTCTCTGC
TTGACAAGTTCCTGATCAAGAACTGCAATGATTTCCAGTATGAGAGCAAGGTGTTTTACCTGAAAATGAAGGGTGATTACTACCGCTACT
TAGCAGAGGTCGCTTCTGGGGAGAAGAAAAACAGTGTGGTCGAAGCTTCTGAAGCTGCCTACAAGGAAGCCTTTGAAATCAGCAAAGAGC
AGATGCAACCCACGCATCCCATCCGGCTGGGCCTGGCCCTCAACTTCTCCGTGTTCTACTATGAGATCCAGAATGCACCTGAGCAAGCCT
GCCTCTTAGCCAAACAAGCCTTCGATGATGCCATAGCTGAGCTGGACACACTAAACGAGGATTCCTATAAGGACTCCACGCTGATCATGC
AGTTGCTGCGAGACAACCTCACCCTCTGGACGAGCGACCAGCAGGATGAAGAAGCAGGAGAAGGCAACTGAAGATCCTTCAGGTCCCCTG
GCCCTTCCTTCACCCACCACCCCCATCATCACCGATTCTTCCTTGCCACAATCACTAAATATCTAGTGCTAAACCTATCTGTATTGGCAG
CACAGCTACTCAGATCTGCACTCCTGTCTCTTGGGAAGCAGTTTCAGATAAATCATGGGCATTGCTGGACTGATGGTTGCTTTGAGCCCA
CAGGAGCTCCCTTTTTGAATTGTGTGGAGAAGTGTGTTCTGATGAGGCATTTTACTATGCCTGTTGATCTATGGGAAATCTAGGCGAAAG
TAATGGGGAAGATTAGAAAGAATTAGCCAACCAGGCTACAGTTGATATTTAAAAGATCCATTTAAAACAAGCTGATAGTGTTTCGTTAAG
CAGTACATCTTGTGCATGCAAAAATGAATTCACCCCTCCCACCTCTTTCTTCAATTAATGGAAAACTGTTAAGGGAAGCTGATACAGAGA
GACAACTTGCTCCTTTCCATCAGCTTTATAATAAACTGTTTAACGTGAGGTTTCAGTAGCTCCTTGGTTTTGCCTCTTTAAATTATGACG
TGCACAAACCTTCTTTTCAATGCAATGCATCTGAAAGTTTTGATACTTGTAACTTTTTTTTTTTTTTGGTTGCAATTGTTTAAGAATCAT
GGATTTATTTTTTGTAACTCTTTGGCTATTGTCCTTGTGTATCCTGACAGCGCCATGTGTGTCAGCCCATGTCAATCAAGATGGGTGATT

>15049_15049_2_CDH1-YWHAH_CDH1_chr16_68772314_ENST00000422392_YWHAH_chr22_32352126_ENST00000397492_length(amino acids)=281AA_BP=64
MPSLGVPGQPWALGAAASRRCCCCCRSPLGSARSRSPATLALTPRATRSRCPGATWREAASWAEVTELNEPLSNEDRNLLSVAYKNVVGA
RRSSWRVISSIEQKTMADGNEKKLEKVKAYREKIEKELETVCNDVLSLLDKFLIKNCNDFQYESKVFYLKMKGDYYRYLAEVASGEKKNS
VVEASEAAYKEAFEISKEQMQPTHPIRLGLALNFSVFYYEIQNAPEQACLLAKQAFDDAIAELDTLNEDSYKDSTLIMQLLRDNLTLWTS

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Fusion Gene PPI Analysis for CDH1-YWHAH


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CDH1-YWHAH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CDH1-YWHAH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource