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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11209

FusionGeneSummary for EIF2AK4_EPB42

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK4_EPB42
Fusion gene ID: 11209
HgeneTgene
Gene symbol

EIF2AK4

EPB42

Gene ID

440275

2038

Gene nameeukaryotic translation initiation factor 2 alpha kinase 4erythrocyte membrane protein band 4.2
SynonymsGCN2|PVOD2PA|SPH5
Cytomap

15q15.1

15q15.2

Type of geneprotein-codingprotein-coding
DescriptioneIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2erythrocyte membrane protein band 4.2P4.2erythrocyte protein 4.2erythrocyte surface protein band 4.2
Modification date2018052320180519
UniProtAcc

Q9P2K8

P16452

Ensembl transtripts involved in fusion geneENST00000559624, ENST00000382727, 
ENST00000263791, ENST00000560648, 
ENST00000559311, 		ENST00000563128, 
ENST00000300215, ENST00000540029, 
ENST00000441366, 
Fusion gene scores* DoF score10 X 10 X 9=9003 X 2 X 3=18
# samples 113
** MAII scorelog2(11/900*10)=-3.03242147769238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EIF2AK4 [Title/Abstract] AND EPB42 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDHNSCTCGA-CQ-6225-01AEIF2AK4chr15

40231818

+EPB42chr15

43495473

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000559624ENST00000563128EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000559624ENST00000300215EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000559624ENST00000540029EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000559624ENST00000441366EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000382727ENST00000563128EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000382727ENST00000300215EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000382727ENST00000540029EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000382727ENST00000441366EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000263791ENST00000563128EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000263791ENST00000300215EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000263791ENST00000540029EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000263791ENST00000441366EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000560648ENST00000563128EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000560648ENST00000300215EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000560648ENST00000540029EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
5CDS-5UTRENST00000560648ENST00000441366EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
intron-5UTRENST00000559311ENST00000563128EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
intron-5UTRENST00000559311ENST00000300215EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
intron-5UTRENST00000559311ENST00000540029EIF2AK4chr15

40231818

+EPB42chr15

43495473

-
intron-5UTRENST00000559311ENST00000441366EIF2AK4chr15

40231818

+EPB42chr15

43495473

-

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FusionProtFeatures for EIF2AK4_EPB42


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

Q9P2K8

EPB42

P16452

Probably plays an important role in the regulation oferythrocyte shape and mechanical properties.

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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FusionGeneSequence for EIF2AK4_EPB42


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EIF2AK4_EPB42


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
EIF2AK4USP46, GGNBP1, ARRB2, TRAP1, FAM153B, PPP1CC, PPP1CA, CROT, TARS, MATR3, LRPPRC, DEF8, TKT, PALM2, PSMC3, MDM4, C6orf141, CRYL1EPB42SPINK7, ANK2, SLC4A1, KRAS, SPTAN1, MAPK14, SLC4A7, HSPA8, SNX6


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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RelatedDrugs for EIF2AK4_EPB42


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EIF2AK4_EPB42


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK4C0002514Amino Acid Metabolism, Inborn Errors1CTD_human
HgeneEIF2AK4C0018500Hair Diseases1CTD_human
HgeneEIF2AK4C0020542Pulmonary Hypertension1CTD_human
HgeneEIF2AK4C0021053Immune System Diseases1CTD_human
HgeneEIF2AK4C0026848Myopathy1CTD_human
HgeneEIF2AK4C0034091Pulmonary Veno-Occlusive Disease (disorder)1CTD_human;ORPHANET
HgeneEIF2AK4C0340848PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE1UNIPROT
TgeneEPB42C2675192Spherocytosis, Type 54CTD_human;UNIPROT