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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:EIF2AK4-TMOD3 (FusionGDB2 ID:HG440275TG29766)

Fusion Gene Summary for EIF2AK4-TMOD3

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK4-TMOD3
Fusion gene ID: hg440275tg29766
HgeneTgene
Gene symbol

EIF2AK4

TMOD3

Gene ID

440275

29766

Gene nameeukaryotic translation initiation factor 2 alpha kinase 4tropomodulin 3
SynonymsGCN2|PVOD2UTMOD
Cytomap('EIF2AK4')('TMOD3')

15q15.1

15q21.2

Type of geneprotein-codingprotein-coding
DescriptioneIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2tropomodulin-3tropomodulin 3 (ubiquitous)ubiquitous tropomodulin
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000263791, ENST00000382727, 
ENST00000559624, ENST00000559311, 
ENST00000560648, 
Fusion gene scores* DoF score15 X 17 X 10=25508 X 12 X 7=672
# samples 2010
** MAII scorelog2(20/2550*10)=-3.6724253419715
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/672*10)=-2.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2AK4 [Title/Abstract] AND TMOD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2AK4(40247969)-TMOD3(52223228), # 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


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-2H-A9GN-01AEIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
ChimerDB4ESCATCGA-2H-A9GNEIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
ChimerDB4ESCATCGA-2H-A9GNEIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
ChimerDB4ESCATCGA-2H-A9GNEIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
ChimerDB4ESCATCGA-2H-A9GNEIF2AK4chr15

40247969

+TMOD3chr15

52239187

+


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Fusion Gene ORF analysis for EIF2AK4-TMOD3

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-3UTRENST00000263791ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-3UTRENST00000382727ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-3UTRENST00000559624ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000263791ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000263791ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000263791ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000263791ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000263791ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000263791ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000263791ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000263791ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000263791ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000263791ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000263791ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000382727ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000382727ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000382727ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000382727ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000382727ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000382727ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000382727ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000382727ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000382727ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000382727ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000382727ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000559624ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000559624ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000559624ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000559624ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000559624ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000559624ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000559624ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
5CDS-intronENST00000559624ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
5CDS-intronENST00000559624ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
5CDS-intronENST00000559624ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
5CDS-intronENST00000559624ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
intron-3UTRENST00000559311ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
intron-3UTRENST00000560648ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
intron-intronENST00000559311ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
intron-intronENST00000559311ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
intron-intronENST00000559311ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
intron-intronENST00000559311ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
intron-intronENST00000559311ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
intron-intronENST00000559311ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
intron-intronENST00000559311ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
intron-intronENST00000559311ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
intron-intronENST00000559311ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
intron-intronENST00000559311ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
intron-intronENST00000559311ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
intron-intronENST00000560648ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
intron-intronENST00000560648ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
intron-intronENST00000560648ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
intron-intronENST00000560648ENST00000308580EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
intron-intronENST00000560648ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
intron-intronENST00000560648ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
intron-intronENST00000560648ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52226447

+
intron-intronENST00000560648ENST00000544199EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+
intron-intronENST00000560648ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52223228

+
intron-intronENST00000560648ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52221630

+
intron-intronENST00000560648ENST00000561136EIF2AK4chr15

40247969

+TMOD3chr15

52239187

+

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 EIF2AK4-TMOD3


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 EIF2AK4-TMOD3


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/:40247969/:52223228)
- 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 EIF2AK4-TMOD3


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 EIF2AK4-TMOD3


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 EIF2AK4-TMOD3


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 EIF2AK4-TMOD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK4C0340848PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE3GENOMICS_ENGLAND;UNIPROT
HgeneEIF2AK4C0034091Pulmonary Veno-Occlusive Disease (disorder)2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneEIF2AK4C0340543Familial primary pulmonary hypertension2GENOMICS_ENGLAND;ORPHANET
HgeneEIF2AK4C0340548Pulmonary capillary hemangiomatosis2GENOMICS_ENGLAND;ORPHANET
HgeneEIF2AK4C0002514Amino Acid Metabolism, Inborn Errors1CTD_human
HgeneEIF2AK4C0018500Hair Diseases1CTD_human
HgeneEIF2AK4C0020542Pulmonary Hypertension1CTD_human
HgeneEIF2AK4C0021053Immune System Diseases1CTD_human
HgeneEIF2AK4C0026848Myopathy1CTD_human
HgeneEIF2AK4C0152171Idiopathic pulmonary hypertension1GENOMICS_ENGLAND
HgeneEIF2AK4C0750905Amino Acid Metabolism, Inherited Disorders1CTD_human
HgeneEIF2AK4C11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND
HgeneEIF2AK4C1701939Familial pulmonary arterial hypertension1ORPHANET
HgeneEIF2AK4C2973725Pulmonary arterial hypertension1GENOMICS_ENGLAND
HgeneEIF2AK4C3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND