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Fusion gene ID: 21247 |
FusionGeneSummary for MBTPS1_CDH5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MBTPS1_CDH5 | Fusion gene ID: 21247 | Hgene | Tgene | Gene symbol | MBTPS1 | CDH5 | Gene ID | 8720 | 1003 |
| Gene name | membrane bound transcription factor peptidase, site 1 | cadherin 5 | |
| Synonyms | PCSK8|S1P|SKI-1 | 7B4|CD144 | |
| Cytomap | 16q23.3-q24.1 | 16q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-bound transcription factor site-1 proteaseendopeptidase S1Pproprotein convertase subtilisin/kexin type 8site-1 proteasesubtilisin/kexin isozyme-1 | cadherin-57B4 antigenVE-cadherincadherin 5, type 2 (vascular endothelium)cadherin 5, type 2, VE-cadherin (vascular epithelium)cd144 antigenendothelial-specific cadherinvascular endothelial cadherin | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q14703 | P33151 | |
| Ensembl transtripts involved in fusion gene | ENST00000343411, ENST00000569770, | ENST00000341529, ENST00000563425, ENST00000539168, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: MBTPS1 [Title/Abstract] AND CDH5 [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 | CDH5 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 21168935 |
| 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 |
| TCGA | RV | UCEC | TCGA-AX-A3FX-01A | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
| * 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 |
| Frame-shift | ENST00000343411 | ENST00000341529 | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
| Frame-shift | ENST00000343411 | ENST00000563425 | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
| 5CDS-intron | ENST00000343411 | ENST00000539168 | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
| intron-3CDS | ENST00000569770 | ENST00000341529 | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
| intron-3CDS | ENST00000569770 | ENST00000563425 | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
| intron-intron | ENST00000569770 | ENST00000539168 | MBTPS1 | chr16 | 84096910 | - | CDH5 | chr16 | 66422227 | + |
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FusionProtFeatures for MBTPS1_CDH5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MBTPS1 | CDH5 |
| Serine protease that catalyzes the first step in theproteolytic activation of the sterol regulatory element-bindingproteins (SREBPs). Other known substrates are BDNF, GNPTAB andATF6. Cleaves after hydrophobic or small residues, provided thatArg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr(BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates theprotein cleavage of GNPTAB into subunit alpha and beta, therebyparticipating in biogenesis of lysosomes.{ECO:0000269|PubMed:21719679}. | Cadherins are calcium-dependent cell adhesion proteins.They preferentially interact with themselves in a homophilicmanner in connecting cells; cadherins may thus contribute to thesorting of heterogeneous cell types. This cadherin may play aimportant role in endothelial cell biology through control of thecohesion and organization of the intercellular junctions. Itassociates with alpha-catenin forming a link to the cytoskeleton.Acts in concert with KRIT1 to establish and maintain correctendothelial cell polarity and vascular lumen. These effects aremediated by recruitment and activation of the Par polarity complexand RAP1B. Required for activation of PRKCZ and for thelocalization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B tothe cell junction. {ECO:0000269|PubMed:20332120,ECO:0000269|PubMed:21269602}. |
| 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 MBTPS1_CDH5 |
| 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 MBTPS1_CDH5 |
| 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 |
| MBTPS1 | HDAC1, HDAC2, ZBED8, TNFSF11, TNFRSF14, CDK2AP2, C11orf58, SPHK1, BIRC3, MOV10, NXF1, TAZ, PEX19, PLAUR, SIAE | CDH5 | CTNNA1, CTNNB1, JUP, KDR, SHC1, P2RX4, CTNND1, PKP4, PTPRB, PTPN11, DSP, VIM, FGA, MYC, EGFR, KRAS, ARVCF, SCML1, CTNNA2, RBFA, SARAF, PLD1, TMTC3, ZMYM1, GPAM, KCNJ11, EXOG, MYO5A, TNFSF9, SGPL1, WDR75, IQCB1, KEAP1, MYO5C, CAPN15, TIGD5, POP4, VANGL2, DNAJC1, ST7, SBF1, HADHB, TSSC4, MICU2, DAG1, CEP57, SREBF2, ATF6, PLD2, MCRS1, OSBP, ACAD11, LTBP1, POLR3A, VTI1B, LRFN1, TMEM57, ZNHIT2, ASPM, PTPRU, MYO9B, MICU1, PIK3CB, PKN3, SNRNP200, MYO1B, KCNJ8, PNPLA6, RYK, ITFG1, UTP15, KIDINS220, MYO1D, HADHA, TBL2, POLR1A, RRP1, POM121, PDZD8, TMEM39A, PTK2 |
| - 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 MBTPS1_CDH5 |
| 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 | CDH5 | P33151 | DB00480 | Lenalidomide | Cadherin-5 | small molecule | approved |
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RelatedDiseases for MBTPS1_CDH5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MBTPS1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | MBTPS1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | MBTPS1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | CDH5 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | CDH5 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | CDH5 | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| Tgene | CDH5 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CDH5 | C0232347 | No-Reflow Phenomenon | 1 | CTD_human |
| Tgene | CDH5 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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