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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: 7619

FusionGeneSummary for CMTM6_EPHB4

check button Fusion gene summary
Fusion gene informationFusion gene name: CMTM6_EPHB4
Fusion gene ID: 7619
HgeneTgene
Gene symbol

CMTM6

EPHB4

Gene ID

54918

2050

Gene nameCKLF like MARVEL transmembrane domain containing 6EPH receptor B4
SynonymsCKLFSF6|PRO2219HFASD|HTK|MYK1|TYRO11
Cytomap

3p22.3

7q22.1

Type of geneprotein-codingprotein-coding
DescriptionCKLF-like MARVEL transmembrane domain-containing protein 6chemokine-like factor super family 6chemokine-like factor superfamily 6chemokine-like factor superfamily member 6ephrin type-B receptor 4ephrin receptor EphB4hepatoma transmembrane kinasesoluble EPHB4 variant 1soluble EPHB4 variant 2soluble EPHB4 variant 3tyrosine-protein kinase TYRO11tyrosine-protein kinase receptor HTK
Modification date2018052320180523
UniProtAcc

Q9NX76

P54760

Ensembl transtripts involved in fusion geneENST00000205636, ENST00000360620, 
ENST00000358173, ENST00000477446, 
Fusion gene scores* DoF score2 X 3 X 1=61 X 1 X 1=1
# samples 31
** MAII scorelog2(3/6*10)=2.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: CMTM6 [Title/Abstract] AND EPHB4 [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
TgeneEPHB4

GO:0002042

cell migration involved in sprouting angiogenesis

12734395

TgeneEPHB4

GO:0007155

cell adhesion

12734395

TgeneEPHB4

GO:0046777

protein autophosphorylation

8188704

TgeneEPHB4

GO:0048013

ephrin receptor signaling pathway

12734395


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
ChiTaRS3.1AW579301CMTM6chr3

32523472

+EPHB4chr7

100400632

+
* 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-3UTRENST00000205636ENST00000360620CMTM6chr3

32523472

+EPHB4chr7

100400632

+
intron-3UTRENST00000205636ENST00000358173CMTM6chr3

32523472

+EPHB4chr7

100400632

+
intron-intronENST00000205636ENST00000477446CMTM6chr3

32523472

+EPHB4chr7

100400632

+

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FusionProtFeatures for CMTM6_EPHB4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CMTM6

Q9NX76

EPHB4

P54760

Master regulator of recycling and plasma membraneexpression of PD-L1/CD274, an immune inhibitory ligand criticalfor immune tolerance to self and antitumor immunity. Associateswith both constitutive and IFNG-induced PD-L1/CD274 at recyclingendosomes, where it protects PD-L1/CD274 from being targeted forlysosomal degradation, likely by preventing its STUB1-mediatedubiquitination. May stabilize PD-L1/CD274 expression on antigenpresenting cells and potentiates inhibitory signaling byPDCD1/CD279, its receptor on T-cells, ultimately triggering T-cellanergy. {ECO:0000269|PubMed:28813410,ECO:0000269|PubMed:28813417}. Receptor tyrosine kinase which binds promiscuouslytransmembrane ephrin-B 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. Together with its cognate ligand/functional ligandEFNB2 plays a central role in heart morphogenesis and angiogenesisthrough regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion andsegregation form EFNB2-expressing cells. Plays also a role inpostnatal blood vessel remodeling, morphogenesis and permeabilityand is thus important in the context of tumor angiogenesis.{ECO:0000269|PubMed:12734395, ECO:0000269|PubMed:16424904,ECO:0000269|PubMed:27400125}.

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 CMTM6_EPHB4


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 CMTM6_EPHB4


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 CMTM6_EPHB4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEPHB4P54760DB01254DasatinibEphrin type-B receptor 4small moleculeapproved|investigational

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RelatedDiseases for CMTM6_EPHB4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEPHB4C1458155Mammary Neoplasms1CTD_human