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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:CDH5-TUBB4B (FusionGDB2 ID:HG1003TG10383)

Fusion Gene Summary for CDH5-TUBB4B

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH5-TUBB4B
Fusion gene ID: hg1003tg10383
HgeneTgene
Gene symbol

CDH5

TUBB4B

Gene ID

1003

10383

Gene namecadherin 5tubulin beta 4B class IVb
Synonyms7B4|CD144Beta2|LCAEOD|TUBB2|TUBB2C
Cytomap('CDH5')('TUBB4B')

16q21

9q34.3

Type of geneprotein-codingprotein-coding
Descriptioncadherin-57B4 antigenVE-cadherincadherin 5, type 2 (vascular endothelium)cadherin 5, type 2, VE-cadherin (vascular epithelium)cd144 antigenendothelial-specific cadherinvascular endothelial cadherintubulin beta-4B chainclass IVb beta tubulinepididymis secretory sperm binding proteintubulin beta-2 chaintubulin beta-2C chaintubulin, beta 2Ctubulin, beta, 2
Modification date2020032920200313
UniProtAcc

P33151

.
Ensembl transtripts involved in fusion geneENST00000341529, ENST00000563425, 
ENST00000539168, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 7 X 1=42
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/42*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDH5 [Title/Abstract] AND TUBB4B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDH5(66424453)-TUBB4B(140137262), # samples:1
Anticipated loss of major functional domain due to fusion event.CDH5-TUBB4B seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CDH5-TUBB4B seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CDH5-TUBB4B seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CDH5-TUBB4B seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneCDH5

GO:0001932

regulation of protein phosphorylation

23159740

HgeneCDH5

GO:0006874

cellular calcium ion homeostasis

23159740

HgeneCDH5

GO:0007179

transforming growth factor beta receptor signaling pathway

21168935

HgeneCDH5

GO:0030335

positive regulation of cell migration

15572031

HgeneCDH5

GO:0031115

negative regulation of microtubule polymerization

23159740

HgeneCDH5

GO:0034332

adherens junction organization

26598555

HgeneCDH5

GO:0043114

regulation of vascular permeability

26598555

HgeneCDH5

GO:0044331

cell-cell adhesion mediated by cadherin

26598555

HgeneCDH5

GO:0098609

cell-cell adhesion

15572031



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CDH5-TUBB4B

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

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)

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

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Fusion Genomic Features for CDH5-TUBB4B


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)


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Fusion Protein Features for CDH5-TUBB4B


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/:66424453/:140137262)
- 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
CDH5

P33151

.
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins (By similarity). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (PubMed:21269602). This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions (By similarity). It associates with alpha-catenin forming a link to the cytoskeleton (PubMed:10861224). Acts in concert with KRIT1 and MPP5 to establish and maintain correct endothelial cell polarity and vascular lumen (By similarity). These effects are mediated by recruitment and activation of the Par polarity complex and RAP1B (PubMed:20332120). Required for activation of PRKCZ and for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction (PubMed:20332120). {ECO:0000250|UniProtKB:P55284, ECO:0000250|UniProtKB:Q8AYD0, ECO:0000269|PubMed:10861224, ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:21269602}.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


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Fusion Gene Sequence for CDH5-TUBB4B


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.

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Fusion Gene PPI Analysis for CDH5-TUBB4B


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 CDH5-TUBB4B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCDH5P33151DB00480LenalidomideAntagonistSmall moleculeApproved

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Related Diseases for CDH5-TUBB4B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH5C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneCDH5C0006142Malignant neoplasm of breast1CTD_human
HgeneCDH5C0008312Primary biliary cirrhosis1CTD_human
HgeneCDH5C0009402Colorectal Carcinoma1CTD_human
HgeneCDH5C0009404Colorectal Neoplasms1CTD_human
HgeneCDH5C0023892Biliary cirrhosis1CTD_human
HgeneCDH5C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCDH5C0232347No-Reflow Phenomenon1CTD_human
HgeneCDH5C0238065Secondary Biliary Cholangitis1CTD_human
HgeneCDH5C0678222Breast Carcinoma1CTD_human
HgeneCDH5C1257931Mammary Neoplasms, Human1CTD_human
HgeneCDH5C1458155Mammary Neoplasms1CTD_human
HgeneCDH5C2713615Slow-Flow Phenomenon1CTD_human
HgeneCDH5C4551595Biliary Cirrhosis, Primary, 11CTD_human
HgeneCDH5C4704874Mammary Carcinoma, Human1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4693498LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS1CLINGEN;UNIPROT