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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:EIF2AK2-ABCC1 (FusionGDB2 ID:HG5610TG4363)

Fusion Gene Summary for EIF2AK2-ABCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK2-ABCC1
Fusion gene ID: hg5610tg4363
HgeneTgene
Gene symbol

EIF2AK2

ABCC1

Gene ID

5610

4363

Gene nameeukaryotic translation initiation factor 2 alpha kinase 2ATP binding cassette subfamily C member 1
SynonymsEIF2AK1|PKR|PPP1R83|PRKRABC29|ABCC|GS-X|MRP|MRP1
Cytomap('EIF2AK2')('ABCC1')

2p22.2

16p13.11

Type of geneprotein-codingprotein-coding
Descriptioninterferon-induced, double-stranded RNA-activated protein kinaseP1/eIF-2A protein kinasedouble stranded RNA activated protein kinaseeIF-2A protein kinase 2interferon-inducible elF2alpha kinasep68 kinaseprotein kinase Rprotein kinase, interferon-indmultidrug resistance-associated protein 1ATP-binding cassette transporter variant ABCC1delta-ex13ATP-binding cassette transporter variant ABCC1delta-ex13&14ATP-binding cassette transporter variant ABCC1delta-ex25ATP-binding cassette transporter varian
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000233057, ENST00000395127, 
ENST00000405334, 
Fusion gene scores* DoF score6 X 8 X 4=19216 X 13 X 5=1040
# samples 916
** MAII scorelog2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1040*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2AK2 [Title/Abstract] AND ABCC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2AK2(37384050)-ABCC1(16101672), # samples:2
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
HgeneEIF2AK2

GO:0006468

protein phosphorylation

19189853

HgeneEIF2AK2

GO:0017148

negative regulation of translation

12882984

HgeneEIF2AK2

GO:0035455

response to interferon-alpha

19840259

HgeneEIF2AK2

GO:0046777

protein autophosphorylation

22801494

HgeneEIF2AK2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

15121867



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
ChimerDB4ESCATCGA-IG-A8O2EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
ChimerDB4ESCATCGA-LN-A4A2EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+


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Fusion Gene ORF analysis for EIF2AK2-ABCC1

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-3CDSENST00000233057ENST00000345148EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000233057ENST00000346370EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000233057ENST00000349029EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000233057ENST00000351154EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000233057ENST00000399408EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000233057ENST00000399410EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000395127ENST00000345148EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000395127ENST00000346370EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000395127ENST00000349029EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000395127ENST00000351154EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000395127ENST00000399408EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-3CDSENST00000395127ENST00000399410EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-intronENST00000233057ENST00000576557EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
5UTR-intronENST00000395127ENST00000576557EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-3CDSENST00000405334ENST00000345148EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-3CDSENST00000405334ENST00000346370EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-3CDSENST00000405334ENST00000349029EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-3CDSENST00000405334ENST00000351154EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-3CDSENST00000405334ENST00000399408EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-3CDSENST00000405334ENST00000399410EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+
intron-intronENST00000405334ENST00000576557EIF2AK2chr2

37384050

-ABCC1chr16

16101672

+

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 EIF2AK2-ABCC1


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)
EIF2AK2chr237384050-ABCC1chr1616101672+1.45E-050.99998546
EIF2AK2chr237384050-ABCC1chr1616101672+1.45E-050.99998546


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 EIF2AK2-ABCC1


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/:37384050/:16101672)
- 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
..
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}.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 EIF2AK2-ABCC1


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 EIF2AK2-ABCC1


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 EIF2AK2-ABCC1


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 EIF2AK2-ABCC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK2C0021400Influenza1CTD_human
HgeneEIF2AK2C0033578Prostatic Neoplasms1CTD_human
HgeneEIF2AK2C0038220Status Epilepticus1CTD_human
HgeneEIF2AK2C0270823Petit mal status1CTD_human
HgeneEIF2AK2C0311335Grand Mal Status Epilepticus1CTD_human
HgeneEIF2AK2C0376358Malignant neoplasm of prostate1CTD_human
HgeneEIF2AK2C0393734Complex Partial Status Epilepticus1CTD_human
HgeneEIF2AK2C0751522Status Epilepticus, Subclinical1CTD_human
HgeneEIF2AK2C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneEIF2AK2C0751524Simple Partial Status Epilepticus1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human