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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: 11810

FusionGeneSummary for EPHA6_CNTN6

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHA6_CNTN6
Fusion gene ID: 11810
HgeneTgene
Gene symbol

EPHA6

CNTN6

Gene ID

285220

27255

Gene nameEPH receptor A6contactin 6
SynonymsEHK-2|EHK2|EK12|EPA6|HEK12|PRO57066NB3
Cytomap

3q11.2

3p26.3

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6contactin-6neural adhesion moleculeneural recognition molecule NB-3
Modification date2018052320180330
UniProtAcc

Q9UF33

Q9UQ52

Ensembl transtripts involved in fusion geneENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
ENST00000446702, ENST00000539053, 
ENST00000350110, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 3 X 3=27
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EPHA6 [Title/Abstract] AND CNTN6 [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-KK-A59X-01AEPHA6chr3

96585733

+CNTN6chr3

1443117

+
* 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-shitENST00000470610ENST00000446702EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000470610ENST00000539053EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000470610ENST00000350110EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000389672ENST00000446702EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000389672ENST00000539053EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000389672ENST00000350110EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000542517ENST00000446702EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000542517ENST00000539053EPHA6chr3

96585733

+CNTN6chr3

1443117

+
Frame-shitENST00000542517ENST00000350110EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000514100ENST00000446702EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000514100ENST00000539053EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000514100ENST00000350110EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000502694ENST00000446702EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000502694ENST00000539053EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000502694ENST00000350110EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000442602ENST00000446702EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000442602ENST00000539053EPHA6chr3

96585733

+CNTN6chr3

1443117

+
intron-3CDSENST00000442602ENST00000350110EPHA6chr3

96585733

+CNTN6chr3

1443117

+

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FusionProtFeatures for EPHA6_CNTN6


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

Q9UF33

CNTN6

Q9UQ52

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}. Contactins mediate cell surface interactions duringnervous system development. Participates in oligodendrocytesgeneration by acting as a ligand of NOTCH1. Its association withNOTCH1 promotes NOTCH1 activation through the released notchintracellular domain (NICD) and subsequent translocation to thenucleus. Involved in motor coordination (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_CNTN6


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_CNTN6


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, DEFA5CNTN6


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_CNTN6


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_CNTN6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCNTN6C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneCNTN6C0005586Bipolar Disorder1PSYGENET
TgeneCNTN6C0010606Adenoid Cystic Carcinoma1CTD_human