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Fusion gene ID: 7619 |
FusionGeneSummary for CMTM6_EPHB4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CMTM6_EPHB4 | Fusion gene ID: 7619 | Hgene | Tgene | Gene symbol | CMTM6 | EPHB4 | Gene ID | 54918 | 2050 |
| Gene name | CKLF like MARVEL transmembrane domain containing 6 | EPH receptor B4 | |
| Synonyms | CKLFSF6|PRO2219 | HFASD|HTK|MYK1|TYRO11 | |
| Cytomap | 3p22.3 | 7q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CKLF-like MARVEL transmembrane domain-containing protein 6chemokine-like factor super family 6chemokine-like factor superfamily 6chemokine-like factor superfamily member 6 | ephrin 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 date | 20180523 | 20180523 | |
| UniProtAcc | Q9NX76 | P54760 | |
| Ensembl transtripts involved in fusion gene | ENST00000205636, | ENST00000360620, ENST00000358173, ENST00000477446, | |
| Fusion gene scores | * DoF score | 2 X 3 X 1=6 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | EPHB4 | GO:0002042 | cell migration involved in sprouting angiogenesis | 12734395 |
| Tgene | EPHB4 | GO:0007155 | cell adhesion | 12734395 |
| Tgene | EPHB4 | GO:0046777 | protein autophosphorylation | 8188704 |
| Tgene | EPHB4 | GO:0048013 | ephrin receptor signaling pathway | 12734395 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AW579301 | CMTM6 | chr3 | 32523472 | + | EPHB4 | chr7 | 100400632 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3UTR | ENST00000205636 | ENST00000360620 | CMTM6 | chr3 | 32523472 | + | EPHB4 | chr7 | 100400632 | + |
| intron-3UTR | ENST00000205636 | ENST00000358173 | CMTM6 | chr3 | 32523472 | + | EPHB4 | chr7 | 100400632 | + |
| intron-intron | ENST00000205636 | ENST00000477446 | CMTM6 | chr3 | 32523472 | + | EPHB4 | chr7 | 100400632 | + |
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FusionProtFeatures for CMTM6_EPHB4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CMTM6 | EPHB4 |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CMTM6_EPHB4 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CMTM6_EPHB4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | EPHB4 | P54760 | DB01254 | Dasatinib | Ephrin type-B receptor 4 | small molecule | approved|investigational |
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RelatedDiseases for CMTM6_EPHB4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EPHB4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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