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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:EIF2AK4-SRP14 (FusionGDB2 ID:25662)

Fusion Gene Summary for EIF2AK4-SRP14

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK4-SRP14
Fusion gene ID: 25662
HgeneTgene
Gene symbol

EIF2AK4

SRP14

Gene ID

440275

6727

Gene nameeukaryotic translation initiation factor 2 alpha kinase 4signal recognition particle 14
SynonymsGCN2|PVOD2ALURBP
Cytomap

15q15.1

15q15.1

Type of geneprotein-codingprotein-coding
DescriptioneIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2signal recognition particle 14 kDa protein18 kDa Alu RNA-binding proteinhomologous Alu RNA binding protein
Modification date2020031320200313
UniProtAcc

Q9P2K8

.
Ensembl transtripts involved in fusion geneENST00000559624, ENST00000382727, 
ENST00000263791, ENST00000560648, 
ENST00000559311, 		ENST00000267884, 
ENST00000558527, ENST00000558720, 
ENST00000560773, ENST00000559081, 
Fusion gene scores* DoF score15 X 17 X 10=25506 X 7 X 5=210
# samples 208
** MAII scorelog2(20/2550*10)=-3.6724253419715
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2AK4 [Title/Abstract] AND SRP14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2AK4(40326645)-SRP14(40329219), # samples:1
EIF2AK4(40328581)-SRP14(40328583), # samples:1
Anticipated loss of major functional domain due to fusion event.EIF2AK4-SRP14 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
EIF2AK4-SRP14 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
EIF2AK4-SRP14 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
EIF2AK4-SRP14 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneSRP14

GO:0042493

response to drug

18089836


check buttonFusion gene breakpoints across EIF2AK4 (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 SRP14 (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
ChimerDB4Non-Cancer203NEIF2AK4chr15

40326645

+SRP14chr15

40329219

-
ChiTaRS5.0N/ABE738621EIF2AK4chr15

40328581

+SRP14chr15

40328583

+


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Fusion Gene ORF analysis for EIF2AK4-SRP14

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-3CDSENST00000559624ENST00000267884EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559624ENST00000558527EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559624ENST00000558720EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559624ENST00000560773EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559624ENST00000559081EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
Frame-shiftENST00000382727ENST00000267884EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000382727ENST00000558527EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000382727ENST00000558720EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000382727ENST00000560773EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000382727ENST00000559081EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
Frame-shiftENST00000263791ENST00000267884EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000263791ENST00000558527EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000263791ENST00000558720EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000263791ENST00000560773EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
5CDS-5UTRENST00000263791ENST00000559081EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-3CDSENST00000560648ENST00000267884EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000560648ENST00000558527EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000560648ENST00000558720EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000560648ENST00000560773EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000560648ENST00000559081EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-3CDSENST00000559311ENST00000267884EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559311ENST00000558527EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559311ENST00000558720EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559311ENST00000560773EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-5UTRENST00000559311ENST00000559081EIF2AK4chr15

40326645

+SRP14chr15

40329219

-
intron-3CDSENST00000559624ENST00000267884EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000559624ENST00000558527EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000559624ENST00000558720EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000559624ENST00000560773EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-intronENST00000559624ENST00000559081EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-3CDSENST00000382727ENST00000267884EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000382727ENST00000558527EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000382727ENST00000558720EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000382727ENST00000560773EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-intronENST00000382727ENST00000559081EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-3CDSENST00000263791ENST00000267884EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000263791ENST00000558527EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000263791ENST00000558720EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000263791ENST00000560773EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-intronENST00000263791ENST00000559081EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-3CDSENST00000560648ENST00000267884EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000560648ENST00000558527EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000560648ENST00000558720EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000560648ENST00000560773EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-intronENST00000560648ENST00000559081EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-3CDSENST00000559311ENST00000267884EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000559311ENST00000558527EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000559311ENST00000558720EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-5UTRENST00000559311ENST00000560773EIF2AK4chr15

40328581

+SRP14chr15

40328583

+
intron-intronENST00000559311ENST00000559081EIF2AK4chr15

40328581

+SRP14chr15

40328583

+

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-SRP14


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 EIF2AK4-SRP14


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF2AK4

Q9P2K8

.
FUNCTION: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability (PubMed:25329545). Plays a role as an activator of the integrated stress response (ISR) required for adaptation to amino acid starvation (By similarity). 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, and thus to a reduced overall utilization of amino acids, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion (By similarity). Binds uncharged tRNAs (By similarity). Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). Plays a role in the consolidation of synaptic plasticity, learning as well as formation of long-term memory (By similarity). Plays a role in neurite outgrowth inhibition (By similarity). Plays a proapoptotic role in response to glucose deprivation (By similarity). Promotes global cellular protein synthesis repression in response to UV irradiation independently of the stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) and p38 MAPK signaling pathways (By similarity). Plays a role in the antiviral response against alphavirus infection; impairs early viral mRNA translation of the incoming genomic virus RNA, thus preventing alphavirus replication (By similarity). {ECO:0000250|UniProtKB:P15442, ECO:0000250|UniProtKB:Q9QZ05, ECO:0000269|PubMed:25329545, ECO:0000269|PubMed:26102367}.; FUNCTION: (Microbial infection) Plays a role in modulating the adaptive immune response to yellow fever virus infection; promotes dendritic cells to initiate autophagy and antigene presentation to both CD4(+) and CD8(+) T-cells under amino acid starvation (PubMed:24310610). {ECO:0000269|PubMed:24310610}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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-SRP14


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-SRP14


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-SRP14


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneEIF2AK4Q9P2K8DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneEIF2AK4Q9P2K8DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneEIF2AK4Q9P2K8DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for EIF2AK4-SRP14


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