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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: 37992

FusionGeneSummary for THOC3_EPHA4

check button Fusion gene summary
Fusion gene informationFusion gene name: THOC3_EPHA4
Fusion gene ID: 37992
HgeneTgene
Gene symbol

THOC3

EPHA4

Gene ID

84321

2043

Gene nameTHO complex 3EPH receptor A4
SynonymsTHO3|hTREX45EK8|HEK8|SEK|TYRO1
Cytomap

5q35.2

2q36.1

Type of geneprotein-codingprotein-coding
DescriptionTHO complex subunit 3TEX1 homologephrin type-A receptor 4EPH-like kinase 8TYRO1 protein tyrosine kinasereceptor protein-tyrosine kinase HEK8tyrosine-protein kinase TYRO1tyrosine-protein kinase receptor SEK
Modification date2018052320180529
UniProtAcc

Q96J01

P54764

Ensembl transtripts involved in fusion geneENST00000265097, ENST00000514861, 
ENST00000513482, ENST00000510300, 
ENST00000281821, ENST00000409854, 
ENST00000409938, ENST00000392071, 
ENST00000469354, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 2 X 2=8
# samples 22
** MAII scorelog2(2/4*10)=2.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: THOC3 [Title/Abstract] AND EPHA4 [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
HgeneTHOC3

GO:0006406

mRNA export from nucleus

17190602

HgeneTHOC3

GO:0046784

viral mRNA export from host cell nucleus

18974867

TgeneEPHA4

GO:0018108

peptidyl-tyrosine phosphorylation

12775584

TgeneEPHA4

GO:0046777

protein autophosphorylation

12775584

TgeneEPHA4

GO:2001108

positive regulation of Rho guanyl-nucleotide exchange factor activity

12775584


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
ChiTaRS3.1AW386073THOC3chr5

175387097

-EPHA4chr2

222283454

-
* 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
intron-3UTRENST00000265097ENST00000281821THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000265097ENST00000409854THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000265097ENST00000409938THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000265097ENST00000392071THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-5UTRENST00000265097ENST00000469354THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-3UTRENST00000514861ENST00000281821THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000514861ENST00000409854THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000514861ENST00000409938THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000514861ENST00000392071THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-5UTRENST00000514861ENST00000469354THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-3UTRENST00000513482ENST00000281821THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000513482ENST00000409854THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000513482ENST00000409938THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000513482ENST00000392071THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-5UTRENST00000513482ENST00000469354THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-3UTRENST00000510300ENST00000281821THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000510300ENST00000409854THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000510300ENST00000409938THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-intronENST00000510300ENST00000392071THOC3chr5

175387097

-EPHA4chr2

222283454

-
intron-5UTRENST00000510300ENST00000469354THOC3chr5

175387097

-EPHA4chr2

222283454

-

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FusionProtFeatures for THOC3_EPHA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
THOC3

Q96J01

EPHA4

P54764

Required for efficient export of polyadenylated RNA andspliced mRNA. Acts as component of the THO subcomplex of the TREXcomplex which is thought to couple mRNA transcription, processingand nuclear export, and which specifically associates with splicedmRNA and not with unspliced pre-mRNA. TREX is recruited to splicedmRNAs by a transcription-independent mechanism, binds to mRNAupstream of the exon-junction complex (EJC) and is recruited in asplicing- and cap-dependent manner to a region near the 5' end ofthe mRNA where it functions in mRNA export to the cytoplasm viathe TAP/NFX1 pathway. The TREX complex is essential for the exportof Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAsand infectious virus production. {ECO:0000269|PubMed:11979277,ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806,ECO:0000269|PubMed:17190602, ECO:0000269|PubMed:18974867}. Receptor tyrosine kinase which binds membrane-boundephrin family ligands residing on adjacent cells, leading tocontact-dependent bidirectional signaling into neighboring cells.The signaling pathway downstream of the receptor is referred to asforward signaling while the signaling pathway downstream of theephrin ligand is referred to as reverse signaling. Highlypromiscuous, it has the unique property among Eph receptors tobind and to be physiologically activated by both GPI-anchoredephrin-A and transmembrane ephrin-B ligands including EFNA1 andEFNB3. Upon activation by ephrin ligands, modulates cellmorphology and integrin-dependent cell adhesion through regulationof the Rac, Rap and Rho GTPases activity. Plays an important rolein the development of the nervous system controlling differentsteps of axonal guidance including the establishment of thecorticospinal projections. May also control the segregation ofmotor and sensory axons during neuromuscular circuit development.In addition to its role in axonal guidance plays a role insynaptic plasticity. Activated by EFNA1 phosphorylates CDK5 at'Tyr-15' which in turn phosphorylates NGEF regulating RHOA anddendritic spine morphogenesis. In the nervous system, plays also arole in repair after injury preventing axonal regeneration and inangiogenesis playing a role in central nervous system vascularformation. Additionally, its promiscuity makes it available toparticipate in a variety of cell-cell signaling regulating forinstance the development of the thymic epithelium.{ECO:0000269|PubMed:17143272}.

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 THOC3_EPHA4


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 THOC3_EPHA4


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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RelatedDrugs for THOC3_EPHA4


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 THOC3_EPHA4


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