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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: 11812

FusionGeneSummary for EPHA6_TSC22D2

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHA6_TSC22D2
Fusion gene ID: 11812
HgeneTgene
Gene symbol

EPHA6

TSC22D2

Gene ID

285220

9819

Gene nameEPH receptor A6TSC22 domain family member 2
SynonymsEHK-2|EHK2|EK12|EPA6|HEK12|PRO57066TILZ4a|TILZ4b|TILZ4c
Cytomap

3q11.2

3q25.1

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6TSC22 domain family protein 2TSC22 domain family 2TSC22-related-inducible leucine zipper protein 4
Modification date2018052320180519
UniProtAcc

Q9UF33

O75157

Ensembl transtripts involved in fusion geneENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
ENST00000361136, ENST00000361875, 
ENST00000492828, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 3 X 3=27
# samples 54
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPHA6 [Title/Abstract] AND TSC22D2 [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
TCGARVLIHCTCGA-DD-AA3A-01AEPHA6chr3

96585733

+TSC22D2chr3

150174863

+
* 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
Frame-shitENST00000470610ENST00000361136EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
Frame-shitENST00000470610ENST00000361875EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
5CDS-intronENST00000470610ENST00000492828EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
Frame-shitENST00000389672ENST00000361136EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
Frame-shitENST00000389672ENST00000361875EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
5CDS-intronENST00000389672ENST00000492828EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
Frame-shitENST00000542517ENST00000361136EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
Frame-shitENST00000542517ENST00000361875EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
5CDS-intronENST00000542517ENST00000492828EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-3CDSENST00000514100ENST00000361136EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-3CDSENST00000514100ENST00000361875EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-intronENST00000514100ENST00000492828EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-3CDSENST00000502694ENST00000361136EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-3CDSENST00000502694ENST00000361875EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-intronENST00000502694ENST00000492828EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-3CDSENST00000442602ENST00000361136EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-3CDSENST00000442602ENST00000361875EPHA6chr3

96585733

+TSC22D2chr3

150174863

+
intron-intronENST00000442602ENST00000492828EPHA6chr3

96585733

+TSC22D2chr3

150174863

+

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FusionProtFeatures for EPHA6_TSC22D2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPHA6

Q9UF33

TSC22D2

O75157

Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling (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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FusionGeneSequence for EPHA6_TSC22D2


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 EPHA6_TSC22D2


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
EPHA6GPHA2, PROC, DEFA5TSC22D2KEAP1, TSC22D4, RNF2, WNK3, OSBPL1A, PSMA7, ZNF143, NRBP1, FLNB, LRRC6, MPDZ, REV1, TTN, WDR77, CCDC141, CCDC144A, KIAA0586, PRMT3, SNX3, SPEF2, TMA7, ANAPC10, ANKRD36, ARID2, ATP1B1, CLIP1, ENOPH1, EPCAM, F8, GPBP1, ITGA2, LOXHD1, LPL, MED13, MSH3, MTIF2, NGRN, PSMA8, RBL1, SAP18, SCEL, SEC31A, STK39, UFM1, ZMYM2, ZNF251, TSC22D3, FAM117B


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 EPHA6_TSC22D2


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 EPHA6_TSC22D2


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