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Fusion gene ID: 7626 |
FusionGeneSummary for CMTM7_RSPO1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CMTM7_RSPO1 | Fusion gene ID: 7626 | Hgene | Tgene | Gene symbol | CMTM7 | RSPO1 | Gene ID | 112616 | 284654 |
| Gene name | CKLF like MARVEL transmembrane domain containing 7 | R-spondin 1 | |
| Synonyms | CKLFSF7 | CRISTIN3|RSPO | |
| Cytomap | 3p22.3 | 1p34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CKLF-like MARVEL transmembrane domain-containing protein 7chemokine-like factor super family 7chemokine-like factor super family member 7 variant 2chemokine-like factor superfamily 7chemokine-like factor superfamily member 7 | R-spondin-1R-spondin homologroof plate-specific spondin-1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96FZ5 | Q2MKA7 | |
| Ensembl transtripts involved in fusion gene | ENST00000334983, ENST00000349718, | ENST00000401070, ENST00000373059, ENST00000401071, ENST00000356545, ENST00000401069, ENST00000401068, | |
| Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CMTM7 [Title/Abstract] AND RSPO1 [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 | RSPO1 | GO:0001934 | positive regulation of protein phosphorylation | 22615920 |
| Tgene | RSPO1 | GO:0002090 | regulation of receptor internalization | 17804805 |
| Tgene | RSPO1 | GO:0030177 | positive regulation of Wnt signaling pathway | 22575959 |
| Tgene | RSPO1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 17804805|22815884 |
| 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 | BQ300150 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| * 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 | ENST00000334983 | ENST00000401070 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000334983 | ENST00000373059 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000334983 | ENST00000401071 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000334983 | ENST00000356545 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000334983 | ENST00000401069 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-intron | ENST00000334983 | ENST00000401068 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000349718 | ENST00000401070 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000349718 | ENST00000373059 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000349718 | ENST00000401071 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000349718 | ENST00000356545 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-3UTR | ENST00000349718 | ENST00000401069 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
| intron-intron | ENST00000349718 | ENST00000401068 | CMTM7 | chr3 | 32493586 | + | RSPO1 | chr1 | 38077349 | + |
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FusionProtFeatures for CMTM7_RSPO1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CMTM7 | RSPO1 |
| Activator of the canonical Wnt signaling pathway byacting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6(LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6and frizzled receptors that are activated by extracellular Wntreceptors, triggering the canonical Wnt signaling pathway toincrease expression of target genes. Also regulates the canonicalWnt/beta-catenin-dependent pathway and non-canonical Wnt signalingby acting as an inhibitor of ZNRF3, an important regulator of theWnt signaling pathway. Acts as a ligand for frizzled FZD8 andLRP6. May negatively regulate the TGF-beta pathway. Has aessential roles in ovary determination. Regulates Wnt signaling byantagonizing DKK1/KREM1-mediated internalization of LRP6 throughan interaction with KREM1 (PubMed:17804805).{ECO:0000269|PubMed:16109882, ECO:0000269|PubMed:17804805,ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076,ECO:0000269|PubMed:22575959, ECO:0000269|PubMed:22615920,ECO:0000269|PubMed:22815884, ECO:0000269|PubMed:23756652,ECO:0000269|PubMed:23809763}. |
| 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 CMTM7_RSPO1 |
| 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 CMTM7_RSPO1 |
| 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 CMTM7_RSPO1 |
| 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 |
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RelatedDiseases for CMTM7_RSPO1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RSPO1 | C0677886 | Epithelial ovarian cancer | 1 | CTD_human |
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