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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:EIF2AK1-DBNL (FusionGDB2 ID:25651)

Fusion Gene Summary for EIF2AK1-DBNL

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK1-DBNL
Fusion gene ID: 25651
HgeneTgene
Gene symbol

EIF2AK1

DBNL

Gene ID

27102

28988

Gene nameeukaryotic translation initiation factor 2 alpha kinase 1drebrin like
SynonymsHCR|HRIABP1|HIP-55|HIP55|SH3P7
Cytomap

7p22.1

7p13

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2-alpha kinase 1heme regulated initiation factor 2 alpha kinaseheme sensitive initiation factor 2a kinaseheme-controlled repressorheme-regulated eukaryotic initiation factor eIF-2-alpha kinaseheme-regulated indrebrin-like proteinHPK1-interacting protein of 55 kDaSH3 domain-containing protein 7actin-binding protein 1cervical SH3P7cervical mucin-associated proteindrebrin-Fsrc homology 3 domain-containing protein HIP-55
Modification date2020031320200313
UniProtAcc

Q9BQI3

Q9UJU6

Ensembl transtripts involved in fusion geneENST00000199389, ENST00000495565, 
ENST00000536084, 		ENST00000440166, 
ENST00000448521, ENST00000452943, 
ENST00000456905, ENST00000468694, 
ENST00000490734, ENST00000494774, 
ENST00000497184, 
Fusion gene scores* DoF score11 X 8 X 8=7044 X 4 X 1=16
# samples 114
** MAII scorelog2(11/704*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EIF2AK1 [Title/Abstract] AND DBNL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2AK1(6063719)-DBNL(44085880), # samples:1
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
HgeneEIF2AK1

GO:1990641

response to iron ion starvation

11036079


check buttonFusion gene breakpoints across EIF2AK1 (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 DBNL (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
ChiTaRS5.0N/ABF895041EIF2AK1chr7

6063719

-DBNLchr7

44085880

+


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Fusion Gene ORF analysis for EIF2AK1-DBNL

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-intronENST00000199389ENST00000440166EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000448521EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000452943EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000456905EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000468694EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000490734EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000494774EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000199389ENST00000497184EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000440166EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000448521EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000452943EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000456905EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000468694EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000490734EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000494774EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000495565ENST00000497184EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000440166EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000448521EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000452943EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000456905EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000468694EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000490734EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000494774EIF2AK1chr7

6063719

-DBNLchr7

44085880

+
intron-intronENST00000536084ENST00000497184EIF2AK1chr7

6063719

-DBNLchr7

44085880

+

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 EIF2AK1-DBNL


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 EIF2AK1-DBNL


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/:6063719/:44085880)
- 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
EIF2AK1

Q9BQI3

DBNL

Q9UJU6

FUNCTION: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions (PubMed:32132706, PubMed:32132707). Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as heme deficiency, oxidative stress, osmotic shock, mitochondrial dysfunction and heat shock (PubMed:32132706, PubMed:32132707). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707). Acts as a key sensor of heme-deficiency: in normal conditions, binds hemin via a cysteine thiolate and histidine nitrogenous coordination, leading to inhibit the protein kinase activity (By similarity). This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell: heme depletion relieves inhibition and stimulates kinase activity, activating the ISR (By similarity). Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions (By similarity). In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties (By similarity). It thereby plays an essential protective role for RBC survival in anemias of iron deficiency (By similarity). Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and possibly other hepatic P450 cytochromes (By similarity). May also regulate endoplasmic reticulum (ER) stress during acute heme-deficient conditions (By similarity). Also activates the ISR in response to mitochondrial dysfunction: HRI/EIF2AK1 protein kinase activity is activated upon binding to the processed form of DELE1 (S-DELE1), thereby promoting the ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707). {ECO:0000250|UniProtKB:Q9Z2R9, ECO:0000269|PubMed:32132706, ECO:0000269|PubMed:32132707, ECO:0000269|PubMed:32197074}.FUNCTION: Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes. {ECO:0000250, ECO:0000269|PubMed:14729663}.

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 EIF2AK1-DBNL


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 EIF2AK1-DBNL


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 EIF2AK1-DBNL


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 EIF2AK1-DBNL


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