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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:CREB5-KCNH2 (FusionGDB2 ID:19346)

Fusion Gene Summary for CREB5-KCNH2

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB5-KCNH2
Fusion gene ID: 19346
HgeneTgene
Gene symbol

CREB5

KCNH2

Gene ID

9586

3757

Gene namecAMP responsive element binding protein 5potassium voltage-gated channel subfamily H member 2
SynonymsCRE-BPA|CREB-5|CREBPAERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1
Cytomap

7p15.1

7q36.1

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 5cAMP response element-binding protein CRE-BPacAMP-response element-binding protein Apotassium voltage-gated channel subfamily H member 2eag homologeag-related protein 1ether-a-go-go-related gene potassium channel 1ether-a-go-go-related potassium channel proteinether-a-go-go-related protein 1human ether-a-go-go-relatedlong QT syndr
Modification date2020031320200320
UniProtAcc

Q02930

Q12809

Ensembl transtripts involved in fusion geneENST00000357727, ENST00000396299, 
ENST00000396300, ENST00000409603, 
ENST00000396298, ENST00000482692, 
ENST00000430723, ENST00000262186, 
ENST00000330883, ENST00000392968, 
Fusion gene scores* DoF score6 X 4 X 5=1203 X 4 X 3=36
# samples 54
** MAII scorelog2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CREB5 [Title/Abstract] AND KCNH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREB5(28610155)-KCNH2(150646137), # samples:3
Anticipated loss of major functional domain due to fusion event.CREB5-KCNH2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CREB5-KCNH2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
CREB5-KCNH2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CREB5-KCNH2 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
HgeneCREB5

GO:0045893

positive regulation of transcription, DNA-templated

8378084

TgeneKCNH2

GO:0035690

cellular response to drug

7604285

TgeneKCNH2

GO:0042391

regulation of membrane potential

8587608|21463633

TgeneKCNH2

GO:0055075

potassium ion homeostasis

7604285|8587608

TgeneKCNH2

GO:0060306

regulation of membrane repolarization

7736582|21463633

TgeneKCNH2

GO:0071805

potassium ion transmembrane transport

7604285|7736582|8587608|11953308|21063088

TgeneKCNH2

GO:0086010

membrane depolarization during action potential

7604285

TgeneKCNH2

GO:0086011

membrane repolarization during action potential

7736582|11953308|21463633

TgeneKCNH2

GO:0097623

potassium ion export across plasma membrane

7604285

TgeneKCNH2

GO:1901379

regulation of potassium ion transmembrane transport

11953308

TgeneKCNH2

GO:1901380

negative regulation of potassium ion transmembrane transport

7604285|8587608

TgeneKCNH2

GO:1901381

positive regulation of potassium ion transmembrane transport

7736582

TgeneKCNH2

GO:1903765

negative regulation of potassium ion export across plasma membrane

7604285|8587608

TgeneKCNH2

GO:1990573

potassium ion import across plasma membrane

7604285


check buttonFusion gene breakpoints across CREB5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KCNH2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4GBMTCGA-27-2528-01ACREB5chr7

28610155

-KCNH2chr7

150646137

-
ChimerDB4GBMTCGA-27-2528-01ACREB5chr7

28610155

+KCNH2chr7

150646137

-
ChimerDB4GBMTCGA-27-2528-01ACREB5chr7

28610155

+KCNH2chr7

150647508

-


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Fusion Gene ORF analysis for CREB5-KCNH2

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-intronENST00000357727ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150646137

-
5CDS-intronENST00000396299ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150646137

-
5CDS-intronENST00000396300ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150646137

-
5CDS-intronENST00000409603ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000357727ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000357727ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000357727ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000357727ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000357727ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000357727ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000357727ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396299ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000396299ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396299ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000396299ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396299ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000396299ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396299ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396300ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000396300ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396300ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000396300ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396300ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000396300ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000396300ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000409603ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000409603ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000409603ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000409603ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000409603ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150646137

-
Frame-shiftENST00000409603ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150647508

-
Frame-shiftENST00000409603ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000396298ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-3CDSENST00000396298ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000396298ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-3CDSENST00000396298ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000396298ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-3CDSENST00000396298ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000396298ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000482692ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-3CDSENST00000482692ENST00000262186CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000482692ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-3CDSENST00000482692ENST00000330883CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000482692ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-3CDSENST00000482692ENST00000392968CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-3CDSENST00000482692ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150647508

-
intron-intronENST00000396298ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150646137

-
intron-intronENST00000482692ENST00000430723CREB5chr7

28610155

+KCNH2chr7

150646137

-

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 CREB5-KCNH2


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)

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.

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.

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Fusion Protein Features for CREB5-KCNH2


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/:28610155/:150646137)
- 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
CREB5

Q02930

KCNH2

Q12809

FUNCTION: Binds to the cAMP response element and activates transcription. {ECO:0000269|PubMed:8378084}.FUNCTION: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661). {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661}.; FUNCTION: [Isoform A-USO]: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.; FUNCTION: [Isoform B-USO]: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.

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 CREB5-KCNH2


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 CREB5-KCNH2


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 CREB5-KCNH2


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 CREB5-KCNH2


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