FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 11813

FusionGeneSummary for EPHA6_ZNF207

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHA6_ZNF207
Fusion gene ID: 11813
HgeneTgene
Gene symbol

EPHA6

ZNF207

Gene ID

285220

7756

Gene nameEPH receptor A6zinc finger protein 207
SynonymsEHK-2|EHK2|EK12|EPA6|HEK12|PRO57066BuGZ|hBuGZ
Cytomap

3q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6BUB3-interacting and GLEBS motif-containing protein ZNF207
Modification date2018052320180523
UniProtAcc

Q9UF33

O43670

Ensembl transtripts involved in fusion geneENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
ENST00000394670, ENST00000321233, 
ENST00000394673, ENST00000341711, 
ENST00000342555, ENST00000577908, 
ENST00000584416, 
Fusion gene scores* DoF score5 X 4 X 4=805 X 6 X 4=120
# samples 56
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPHA6 [Title/Abstract] AND ZNF207 [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
TgeneZNF207

GO:0090307

mitotic spindle assembly

26388440


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
ChiTaRS3.1DA718594EPHA6chr3

97437933

-ZNF207chr17

30678873

+
* 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-3CDSENST00000470610ENST00000394670EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000470610ENST00000321233EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000470610ENST00000394673EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000470610ENST00000341711EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000470610ENST00000342555EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000470610ENST00000577908EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-intronENST00000470610ENST00000584416EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000389672ENST00000394670EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000389672ENST00000321233EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000389672ENST00000394673EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000389672ENST00000341711EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000389672ENST00000342555EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000389672ENST00000577908EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-intronENST00000389672ENST00000584416EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000542517ENST00000394670EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000542517ENST00000321233EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000542517ENST00000394673EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000542517ENST00000341711EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000542517ENST00000342555EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000542517ENST00000577908EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-intronENST00000542517ENST00000584416EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000514100ENST00000394670EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000514100ENST00000321233EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000514100ENST00000394673EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000514100ENST00000341711EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000514100ENST00000342555EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000514100ENST00000577908EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-intronENST00000514100ENST00000584416EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000502694ENST00000394670EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000502694ENST00000321233EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000502694ENST00000394673EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000502694ENST00000341711EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000502694ENST00000342555EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000502694ENST00000577908EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-intronENST00000502694ENST00000584416EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000442602ENST00000394670EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000442602ENST00000321233EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000442602ENST00000394673EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000442602ENST00000341711EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000442602ENST00000342555EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-3CDSENST00000442602ENST00000577908EPHA6chr3

97437933

-ZNF207chr17

30678873

+
intron-intronENST00000442602ENST00000584416EPHA6chr3

97437933

-ZNF207chr17

30678873

+

Top

FusionProtFeatures for EPHA6_ZNF207


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

Q9UF33

ZNF207

O43670

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}. Kinetochore- and microtubule-binding protein that playsa key role in spindle assembly (PubMed:24462186, PubMed:24462187,PubMed:26388440). ZNF207/BuGZ is mainly composed of disorderedlow-complexity regions and undergoes phase transition orcoacervation to form temperature-dependent liquid droplets.Coacervation promotes microtubule bundling and concentratestubulin, promoting microtubule polymerization and assembly ofspindle and spindle matrix by concentrating its building blocks(PubMed:26388440). Also acts as a regulator of mitotic chromosomealignment by mediating the stability and kinetochore loading ofBUB3 (PubMed:24462186, PubMed:24462187). Mechanisms by which BUB3is protected are unclear: according to a first report, ZNF207/BuGZmay act by blocking ubiquitination and proteasomal degradation ofBUB3 (PubMed:24462186). According to another report, thestabilization is independent of the proteasome (PubMed:24462187).{ECO:0000269|PubMed:24462186, ECO:0000269|PubMed:24462187,ECO:0000269|PubMed:26388440}.

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


Top

FusionGeneSequence for EPHA6_ZNF207


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).

Top

FusionGenePPI for EPHA6_ZNF207


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


Top

RelatedDrugs for EPHA6_ZNF207


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

Top

RelatedDiseases for EPHA6_ZNF207


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