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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: 38619

FusionGeneSummary for TMEM39A_EPHA6

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM39A_EPHA6
Fusion gene ID: 38619
HgeneTgene
Gene symbol

TMEM39A

EPHA6

Gene ID

55254

285220

Gene nametransmembrane protein 39AEPH receptor A6
Synonyms-EHK-2|EHK2|EK12|EPA6|HEK12|PRO57066
Cytomap

3q13.33

3q11.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 39Aephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6
Modification date2018051920180523
UniProtAcc

Q9NV64

Q9UF33

Ensembl transtripts involved in fusion geneENST00000319172, ENST00000486159, 
ENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
Fusion gene scores* DoF score3 X 2 X 2=128 X 8 X 4=256
# samples 38
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM39A [Title/Abstract] AND EPHA6 [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
TCGARVPRADTCGA-EJ-5505-01ATMEM39Achr3

119171294

-EPHA6chr3

96706174

+
* 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-shitENST00000319172ENST00000470610TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
Frame-shitENST00000319172ENST00000389672TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
Frame-shitENST00000319172ENST00000542517TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
5CDS-intronENST00000319172ENST00000514100TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
5CDS-intronENST00000319172ENST00000502694TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
5CDS-intronENST00000319172ENST00000442602TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
intron-3CDSENST00000486159ENST00000470610TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
intron-3CDSENST00000486159ENST00000389672TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
intron-3CDSENST00000486159ENST00000542517TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
intron-intronENST00000486159ENST00000514100TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
intron-intronENST00000486159ENST00000502694TMEM39Achr3

119171294

-EPHA6chr3

96706174

+
intron-intronENST00000486159ENST00000442602TMEM39Achr3

119171294

-EPHA6chr3

96706174

+

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FusionProtFeatures for TMEM39A_EPHA6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM39A

Q9NV64

EPHA6

Q9UF33

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 TMEM39A_EPHA6


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 TMEM39A_EPHA6


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
TMEM39ASYNE4, TNFSF13B, IL9R, BTNL8, ZACN, HTR3C, CHRNA9, B4GAT1, PCDHGA5, MPPE1, HTR3A, CHRND, SLC39A12, FAM46A, TMPRSS3, GABRE, TM2D2, LRRTM1, NLGN3, TCTN2, GAA, IL17RC, PCDHA4, ZNRF4, UPK1A, CDH5EPHA6GPHA2, PROC, DEFA5


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 TMEM39A_EPHA6


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 TMEM39A_EPHA6


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