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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6443

FusionGeneSummary for CDH1_EFNB2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH1_EFNB2
Fusion gene ID: 6443
HgeneTgene
Gene symbol

CDH1

EFNB2

Gene ID

51343

1948

Gene namefizzy and cell division cycle 20 related 1ephrin B2
SynonymsCDC20C|CDH1|FZR|FZR2|HCDH|HCDH1EPLG5|HTKL|Htk-L|LERK5
Cytomap

19p13.3

13q33.3

Type of geneprotein-codingprotein-coding
Descriptionfizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 1ephrin-B2HTK ligandLERK-5eph-related receptor tyrosine kinase ligand 5ligand of eph-related kinase 5
Modification date2018051920180523
UniProtAcc

P12830

P52799

Ensembl transtripts involved in fusion geneENST00000261769, ENST00000422392, 
ENST00000562836, 
ENST00000245323, 
Fusion gene scores* DoF score11 X 10 X 4=4403 X 4 X 1=12
# samples 135
** MAII scorelog2(13/440*10)=-1.7589919004962
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/12*10)=2.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDH1 [Title/Abstract] AND EFNB2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneEFNB2

GO:0002042

cell migration involved in sprouting angiogenesis

12734395

TgeneEFNB2

GO:0007155

cell adhesion

12734395

TgeneEFNB2

GO:0010977

negative regulation of neuron projection development

10066262

TgeneEFNB2

GO:0048013

ephrin receptor signaling pathway

12734395

TgeneEFNB2

GO:0050920

regulation of chemotaxis

12734395

TgeneEFNB2

GO:1901216

positive regulation of neuron death

10066262


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF819233CDH1chr16

68861834

-EFNB2chr13

107148179

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000261769ENST00000245323CDH1chr16

68861834

-EFNB2chr13

107148179

-
intron-3CDSENST00000422392ENST00000245323CDH1chr16

68861834

-EFNB2chr13

107148179

-
intron-3CDSENST00000562836ENST00000245323CDH1chr16

68861834

-EFNB2chr13

107148179

-

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FusionProtFeatures for CDH1_EFNB2


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

P12830

EFNB2

P52799

Cadherins are calcium-dependent cell adhesion proteins(PubMed:11976333). They preferentially interact with themselves ina homophilic manner in connecting cells; cadherins may thuscontribute to the sorting of heterogeneous cell types. CDH1 isinvolved in mechanisms regulating cell-cell adhesions, mobilityand proliferation of epithelial cells (PubMed:11976333). Has apotent invasive suppressor role. It is a ligand for integrinalpha-E/beta-7. {ECO:0000269|PubMed:11976333,ECO:0000269|PubMed:16417575}. E-Cad/CTF2 promotes non-amyloidogenic degradation ofAbeta precursors. Has a strong inhibitory effect on APP C99 andC83 production. {ECO:0000269|PubMed:16417575}. Cell surface transmembrane ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. Binds to receptor tyrosine kinase includingEPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central rolein heart morphogenesis and angiogenesis through regulation of celladhesion and cell migration. EPHB4-mediated forward signalingcontrols cellular repulsion and segregation from EFNB2-expressingcells. May play a role in constraining the orientation oflongitudinally projecting axons. {ECO:0000269|PubMed:12734395}. (Microbial infection) Acts as a receptor for Hendravirus and Nipah virus. {ECO:0000269|PubMed:15998730,ECO:0000269|PubMed:16007075, ECO:0000269|PubMed:16477309,ECO:0000269|PubMed:17376907}.

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


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FusionGeneSequence for CDH1_EFNB2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CDH1_EFNB2


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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RelatedDrugs for CDH1_EFNB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CDH1_EFNB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH1C0038356Stomach Neoplasms6CTD_human
HgeneCDH1C1458155Mammary Neoplasms4CTD_human
HgeneCDH1C0005695Bladder Neoplasm2CTD_human
HgeneCDH1C0009404Colorectal Neoplasms2CTD_human
HgeneCDH1C0023904Liver Neoplasms, Experimental2CTD_human
HgeneCDH1C0027626Neoplasm Invasiveness2CTD_human
HgeneCDH1C0027627Neoplasm Metastasis2CTD_human
HgeneCDH1C0033578Prostatic Neoplasms2CTD_human
HgeneCDH1C0206692Carcinoma, Lobular2CTD_human
HgeneCDH1C1134719Invasive Ductal Breast Carcinoma2CTD_human
HgeneCDH1C1708349Hereditary Diffuse Gastric Cancer2ORPHANET;UNIPROT
HgeneCDH1C2931456Prostate cancer, familial2CTD_human
HgeneCDH1C0007137Squamous cell carcinoma1CTD_human
HgeneCDH1C0007621Neoplastic Cell Transformation1CTD_human
HgeneCDH1C0009324Ulcerative Colitis1CTD_human
HgeneCDH1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneCDH1C0014170Endometrial Neoplasms1CTD_human
HgeneCDH1C0024667Animal Mammary Neoplasms1CTD_human
HgeneCDH1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneCDH1C0025500Mesothelioma1CTD_human
HgeneCDH1C0026936Mycoplasma Infections1CTD_human
HgeneCDH1C0027746Nerve Degeneration1CTD_human
HgeneCDH1C0030297Pancreatic Neoplasm1CTD_human
HgeneCDH1C0032927Precancerous Conditions1CTD_human
HgeneCDH1C0036095Salivary Gland Neoplasms1CTD_human
HgeneCDH1C0079487Helicobacter Infections1CTD_human
HgeneCDH1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
HgeneCDH1C0919267ovarian neoplasm1CTD_human
TgeneEFNB2C0023903Liver neoplasms1CTD_human
TgeneEFNB2C0032927Precancerous Conditions1CTD_human
TgeneEFNB2C0035126Reperfusion Injury1CTD_human
TgeneEFNB2C0036341Schizophrenia1PSYGENET