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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:EPN2-KCNJ12 (FusionGDB2 ID:27032)

Fusion Gene Summary for EPN2-KCNJ12

check button Fusion gene summary
Fusion gene informationFusion gene name: EPN2-KCNJ12
Fusion gene ID: 27032
HgeneTgene
Gene symbol

EPN2

KCNJ12

Gene ID

22905

3768

Gene nameepsin 2potassium inwardly rectifying channel subfamily J member 12
SynonymsEHB21IRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x
Cytomap

17p11.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionepsin-2EPS-15-interacting protein 2Eps15 binding proteinATP-sensitive inward rectifier potassium channel 12inward rectifier K(+) channel Kir2.2vinward rectifier K(+) channel Kir2.6potassium channel, inwardly rectifying subfamily J, member 12potassium inwardly-rectifying channel, subfamily J, inhibitor 1po
Modification date2020031320200313
UniProtAcc

O95208

Q14500

Ensembl transtripts involved in fusion geneENST00000314728, ENST00000347697, 
ENST00000395618, ENST00000575595, 
ENST00000395620, ENST00000395626, 
ENST00000441293, ENST00000571254, 
ENST00000331718, ENST00000583088, 
Fusion gene scores* DoF score8 X 4 X 7=2244 X 4 X 3=48
# samples 125
** MAII scorelog2(12/224*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPN2 [Title/Abstract] AND KCNJ12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPN2(19140844)-KCNJ12(21311831), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneKCNJ12

GO:0006813

potassium ion transport

20921230

TgeneKCNJ12

GO:0051289

protein homotetramerization

21874019


check buttonFusion gene breakpoints across EPN2 (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 KCNJ12 (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
ChimerDB4BLCATCGA-BT-A20Q-01AEPN2chr17

19140844

-KCNJ12chr17

21311831

+
ChimerDB4BLCATCGA-BT-A20Q-01AEPN2chr17

19140844

+KCNJ12chr17

21311831

+
ChimerDB4BLCATCGA-BT-A20QEPN2chr17

19140844

+KCNJ12chr17

21311830

+


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Fusion Gene ORF analysis for EPN2-KCNJ12

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
5UTR-5UTRENST00000314728ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000314728ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000314728ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000314728ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000347697ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000347697ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000347697ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000347697ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000395618ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000395618ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000395618ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000395618ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000575595ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000575595ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
5UTR-5UTRENST00000575595ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
5UTR-5UTRENST00000575595ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000395620ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000395620ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000395620ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000395620ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000395626ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000395626ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000395626ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000395626ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000441293ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000441293ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000441293ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000441293ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000571254ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000571254ENST00000331718EPN2chr17

19140844

+KCNJ12chr17

21311830

+
intron-5UTRENST00000571254ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311831

+
intron-5UTRENST00000571254ENST00000583088EPN2chr17

19140844

+KCNJ12chr17

21311830

+

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 EPN2-KCNJ12


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)
EPN2chr1719140844+KCNJ12chr1721311830+0.0074257570.9925742
EPN2chr1719140844+KCNJ12chr1721311830+0.0074257570.9925742
EPN2chr1719140844+KCNJ12chr1721311830+0.0074257570.9925742
EPN2chr1719140844+KCNJ12chr1721311830+0.0074257570.9925742

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.
genomic feature of top 1%

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Fusion Protein Features for EPN2-KCNJ12


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/:19140844/:21311831)
- 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
EPN2

O95208

KCNJ12

Q14500

FUNCTION: Plays a role in the formation of clathrin-coated invaginations and endocytosis. {ECO:0000269|PubMed:10567358}.FUNCTION: Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. {ECO:0000269|PubMed:12417321, ECO:0000269|PubMed:20921230, ECO:0000269|PubMed:7859381, ECO:0000269|PubMed:8647284}.

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 EPN2-KCNJ12


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 EPN2-KCNJ12


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 EPN2-KCNJ12


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 EPN2-KCNJ12


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