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Fusion gene ID: 41690 |
FusionGeneSummary for VTN_SERPINC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VTN_SERPINC1 | Fusion gene ID: 41690 | Hgene | Tgene | Gene symbol | VTN | SERPINC1 | Gene ID | 7448 | 462 |
| Gene name | vitronectin | serpin family C member 1 | |
| Synonyms | V75|VN|VNT | AT3|AT3D|ATIII|ATIII-R2|THPH7 | |
| Cytomap | 17q11.2 | 1q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vitronectinS-proteincomplement S-proteinepibolinserum spreading factorsomatomedin B | antithrombin-IIIantithrombin III isoformserine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1serpin peptidase inhibitor clade C member 1serpin peptidase inhibitor, clade C (antithrombin), member 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P04004 | P01008 | |
| Ensembl transtripts involved in fusion gene | ENST00000431468, ENST00000438614, ENST00000536498, ENST00000226218, | ENST00000367698, ENST00000494024, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/8*10)=2.32192809488736 | |
| Context | PubMed: VTN [Title/Abstract] AND SERPINC1 [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 |
| Hgene | VTN | GO:0007160 | cell-matrix adhesion | 10022831 |
| Hgene | VTN | GO:0010951 | negative regulation of endopeptidase activity | 1695900 |
| Hgene | VTN | GO:0014911 | positive regulation of smooth muscle cell migration | 8837777 |
| Hgene | VTN | GO:0032092 | positive regulation of protein binding | 1695900 |
| Hgene | VTN | GO:0033627 | cell adhesion mediated by integrin | 8837777 |
| Hgene | VTN | GO:0035987 | endodermal cell differentiation | 23154389 |
| Hgene | VTN | GO:0048260 | positive regulation of receptor-mediated endocytosis | 8626514 |
| Hgene | VTN | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 10022831 |
| Hgene | VTN | GO:0061302 | smooth muscle cell-matrix adhesion | 8837777 |
| 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 | LD | LIHC | TCGA-ZS-A9CE-01A | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| * 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-3CDS | ENST00000431468 | ENST00000367698 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| intron-intron | ENST00000431468 | ENST00000494024 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| intron-3CDS | ENST00000438614 | ENST00000367698 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| intron-intron | ENST00000438614 | ENST00000494024 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| 5UTR-3CDS | ENST00000536498 | ENST00000367698 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| 5UTR-intron | ENST00000536498 | ENST00000494024 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| In-frame | ENST00000226218 | ENST00000367698 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
| 5CDS-intron | ENST00000226218 | ENST00000494024 | VTN | chr17 | 26696310 | - | SERPINC1 | chr1 | 173879080 | - |
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FusionProtFeatures for VTN_SERPINC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VTN | SERPINC1 |
| Vitronectin is a cell adhesion and spreading factorfound in serum and tissues. Vitronectin interact withglycosaminoglycans and proteoglycans. Is recognized by certainmembers of the integrin family and serves as a cell-to-substrateadhesion molecule. Inhibitor of the membrane-damaging effect ofthe terminal cytolytic complement pathway. Somatomedin-B is a growth hormone-dependent serum factorwith protease-inhibiting activity. |
| 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 VTN_SERPINC1 |
| 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. |
| >In-frame_VTN_ENST00000226218_chr17_26696310_-_SERPINC1_ENST00000367698_chr1_173879080_-_434aa MAPLRPLLILALLAWVALADQESCKGRCTEGFNVDKKCQCDELCSYYQSCCTDYTAECKPQVTRGDVFTMPEDEYTVYDDGEEKNNATVH EQVGGPSLTSDLQAQSKGNPEQTPVLKPEEEAPAPEVGASKPEGIDSRPETLHPGRPQPPAEEELCSGKPFDAFTDLKNGSLFAFRGQYC YELDEKAVRPGYPKLIRDVWGIEGPIDAAFTRINCQGKTYLFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQV LELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGR |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_VTN_ENST00000226218_chr17_26696310_-_SERPINC1_ENST00000367698_chr1_173879080_-_1302nt ATGGCACCCCTGAGACCCCTTCTCATACTGGCCCTGCTGGCATGGGTTGCTCTGGCTGACCAAGAGTCATGCAAGGGCCGCTGCACTGAG GGCTTCAACGTGGACAAGAAGTGCCAGTGTGACGAGCTCTGCTCTTACTACCAGAGCTGCTGCACAGACTATACGGCTGAGTGCAAGCCC CAAGTGACTCGCGGGGATGTGTTCACTATGCCGGAGGATGAGTACACGGTCTATGACGATGGCGAGGAGAAAAACAATGCCACTGTCCAT GAACAGGTGGGGGGCCCCTCCCTGACCTCTGACCTCCAGGCCCAGTCCAAAGGGAATCCTGAGCAGACACCTGTTCTGAAACCTGAGGAA GAGGCCCCTGCGCCTGAGGTGGGCGCCTCTAAGCCTGAGGGGATAGACTCAAGGCCTGAGACCCTTCATCCAGGGAGACCTCAGCCCCCA GCAGAGGAGGAGCTGTGCAGTGGGAAGCCCTTCGACGCCTTCACCGACCTCAAGAACGGTTCCCTCTTTGCCTTCCGAGGGCAGTACTGC TATGAACTGGACGAAAAGGCAGTGAGGCCTGGGTACCCCAAGCTCATCCGAGATGTCTGGGGCATCGAGGGCCCCATCGATGCCGCCTTC ACCCGCATCAACTGTCAGGGGAAGACCTACCTCTTCAAGGGCCTGTGGAAGTCAAAGTTCAGCCCTGAGAACACAAGGAAGGAACTGTTC TACAAGGCTGATGGAGAGTCGTGTTCAGCATCTATGATGTACCAGGAAGGCAAGTTCCGTTATCGGCGCGTGGCTGAAGGCACCCAGGTG CTTGAGTTGCCCTTCAAAGGTGATGACATCACCATGGTCCTCATCTTGCCCAAGCCTGAGAAGAGCCTGGCCAAGGTAGAGAAGGAACTC ACCCCAGAGGTGCTGCAAGAGTGGCTGGATGAATTGGAGGAGATGATGCTGGTGGTCCACATGCCCCGCTTCCGCATTGAGGACGGCTTC AGTTTGAAGGAGCAGCTGCAAGACATGGGCCTTGTCGATCTGTTCAGCCCTGAAAAGTCCAAACTCCCAGGTATTGTTGCAGAAGGCCGA GATGACCTCTATGTCTCAGATGCATTCCATAAGGCATTTCTTGAGGTAAATGAAGAAGGCAGTGAAGCAGCTGCAAGTACCGCTGTTGTG ATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCAAGGCCAACAGGCCTTTCCTGGTTTTTATAAGAGAAGTTCCTCTGAACACT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_VTN_ENST00000226218_chr17_26696310_-_SERPINC1_ENST00000367698_chr1_173879080_-_2001nt CTTTGTTCTTTTATGCTAAAAAATAAAATTCCCCAGAGTGCTTACAATCTCTCCTCCCACTCCCTTTTTCCTGCCCTAAATAAATAATGG CGAATGAGCACCCAGCCAGGGATGTGTCTGATCAAACAATCATGGATCAATAGCTATGTTTGGAGAAGGAATTTGTGGCTGCTCCAGCTA CTGGGCATTTTGTCTGGTCCAGTTCATGTAATCTCCCAACACCCCATGAAGCAAGGCTTTGTTAATCCTATTTTACTGAAAATGAACTAA GACTCAGAGAGATAAAGCTGTTGCCCAATGAGCCTTCTTTCTGCCCTCCAGATCCACGGTGCTAATTCCCCTTCCGATGACCTAATGATT CTGAGCTTGGCAAAGGTCTTATCTCCCAGCTCGCCCAGGCCCAGTGTTCCAGGAATGTGACCTTTGCTGCAGCAGCCGCTGGAGGGGGCA GAGGGGATGGGCTGGAGGTTGAGCAAACAGAGCAGCAGAAAAGGCAGTTCCTCTTCTCCAGTGCCCTCCTTCCCTGTCTCTGCCTCTCCC TCCCTTCCTCAGGCATCAGAGCGGAGACTTCAGGGAGACCAGAGCCCAGCTTGCCAGGCACTGAGCTAGAAGCCCTGCCATGGCACCCCT GAGACCCCTTCTCATACTGGCCCTGCTGGCATGGGTTGCTCTGGCTGACCAAGAGTCATGCAAGGGCCGCTGCACTGAGGGCTTCAACGT GGACAAGAAGTGCCAGTGTGACGAGCTCTGCTCTTACTACCAGAGCTGCTGCACAGACTATACGGCTGAGTGCAAGCCCCAAGTGACTCG CGGGGATGTGTTCACTATGCCGGAGGATGAGTACACGGTCTATGACGATGGCGAGGAGAAAAACAATGCCACTGTCCATGAACAGGTGGG GGGCCCCTCCCTGACCTCTGACCTCCAGGCCCAGTCCAAAGGGAATCCTGAGCAGACACCTGTTCTGAAACCTGAGGAAGAGGCCCCTGC GCCTGAGGTGGGCGCCTCTAAGCCTGAGGGGATAGACTCAAGGCCTGAGACCCTTCATCCAGGGAGACCTCAGCCCCCAGCAGAGGAGGA GCTGTGCAGTGGGAAGCCCTTCGACGCCTTCACCGACCTCAAGAACGGTTCCCTCTTTGCCTTCCGAGGGCAGTACTGCTATGAACTGGA CGAAAAGGCAGTGAGGCCTGGGTACCCCAAGCTCATCCGAGATGTCTGGGGCATCGAGGGCCCCATCGATGCCGCCTTCACCCGCATCAA CTGTCAGGGGAAGACCTACCTCTTCAAGGGCCTGTGGAAGTCAAAGTTCAGCCCTGAGAACACAAGGAAGGAACTGTTCTACAAGGCTGA TGGAGAGTCGTGTTCAGCATCTATGATGTACCAGGAAGGCAAGTTCCGTTATCGGCGCGTGGCTGAAGGCACCCAGGTGCTTGAGTTGCC CTTCAAAGGTGATGACATCACCATGGTCCTCATCTTGCCCAAGCCTGAGAAGAGCCTGGCCAAGGTAGAGAAGGAACTCACCCCAGAGGT GCTGCAAGAGTGGCTGGATGAATTGGAGGAGATGATGCTGGTGGTCCACATGCCCCGCTTCCGCATTGAGGACGGCTTCAGTTTGAAGGA GCAGCTGCAAGACATGGGCCTTGTCGATCTGTTCAGCCCTGAAAAGTCCAAACTCCCAGGTATTGTTGCAGAAGGCCGAGATGACCTCTA TGTCTCAGATGCATTCCATAAGGCATTTCTTGAGGTAAATGAAGAAGGCAGTGAAGCAGCTGCAAGTACCGCTGTTGTGATTGCTGGCCG TTCGCTAAACCCCAACAGGGTGACTTTCAAGGCCAACAGGCCTTTCCTGGTTTTTATAAGAGAAGTTCCTCTGAACACTATTATCTTCAT GGGCAGAGTAGCCAACCCTTGTGTTAAGTAAAATGTTCTTATTCTTTGCACCTCTTCCTATTTTTGGTTTGTGAACAGAAGTAAAAATAA |
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FusionGenePPI for VTN_SERPINC1 |
| 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 |
| VTN | AMPH, SERPINE1, LACRT, IGF2, TGFB1, TGFB2, VEGFA, EGF, FGF2, KNG1, PVR, POMC, IGFBP5, GEM, COPS5, APP, ILF2, SRSF1, SRSF10, SEPT7, DHX15, CDC5L, SRSF11, BUD31, SAFB, LUC7L3, S100A9, HNRNPR, NHP2L1, PRPF19, SMU1, HNRNPM, PHGDH, SF3B6, PPP1CA, SNRPA1, DDX5, PRPF8, ILF3, WDR18, NFIA, SF3B1, SF3B3, HNRNPU, PRPF40A, RBM25, SMARCB1, USP39, SF3A1, DSP, DHX9, RBM39, SFPQ, IK, DDB1, DEK, SAP18, RPS11, HP1BP3, PRKCA, PRKACA, ADTRP, CKS2, CD247, ADH5, GLUD1, SIX1, CRADD, PRDX4, CBX1, RPL13A, ETV7, RHOXF1, GOPC, CUL7, EED, LNX2, UACA, TRIOBP, GLI4, RAI14, OTUD4, C21orf2, ZNF483, GPRIN1, ZNF696, MPRIP, RNF14, LPCAT3, RPP40, ZNF777, ITGB5, PTCD2, FBXO33, POP4, WDR33, RTN2, RRP1, MRS2, TTLL4, HAT1, HOXB9, ISOC1, KTN1, PTPLB, NAP1L1, FASTKD3, ARMCX3, NEK1, RBM5, POP1, ARHGAP11A, LEMD2, TRMT11, CDK4, VPRBP, C1QBP, ST6GALNAC4 | SERPINC1 | TUBB8, TUBB1, TEX15, OS9, ISCA2, SUCLG1, BTD, PFAS, DDX31, FCGRT, CBWD1 |
| - 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 VTN_SERPINC1 |
| 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 |
| Hgene | VTN | P04004 | DB00054 | Abciximab | Vitronectin | biotech | approved |
| Hgene | VTN | P04004 | DB01593 | Zinc | Vitronectin | small molecule | approved|investigational |
| Tgene | SERPINC1 | P01008 | DB01225 | Enoxaparin | Antithrombin-III | small molecule | approved |
| Tgene | SERPINC1 | P01008 | DB06779 | Dalteparin | Antithrombin-III | small molecule | approved |
| Tgene | SERPINC1 | P01008 | DB06822 | Tinzaparin | Antithrombin-III | small molecule | approved |
| Tgene | SERPINC1 | P01008 | DB11598 | Antithrombin III human | Antithrombin-III | biotech | approved |
| Tgene | SERPINC1 | P01008 | DB01109 | Heparin | Antithrombin-III | small molecule | approved|investigational |
| Tgene | SERPINC1 | P01008 | DB06271 | Sulodexide | Antithrombin-III | biotech | approved|investigational |
| Tgene | SERPINC1 | P01008 | DB08813 | Nadroparin | Antithrombin-III | small molecule | approved|investigational |
| Tgene | SERPINC1 | P01008 | DB09258 | Bemiparin | Antithrombin-III | small molecule | approved|investigational |
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RelatedDiseases for VTN_SERPINC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | VTN | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | VTN | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | SERPINC1 | C0272375 | Antithrombin III Deficiency | 28 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | SERPINC1 | C0040053 | Thrombosis | 4 | CTD_human |
| Tgene | SERPINC1 | C0012739 | Disseminated Intravascular Coagulation | 3 | CTD_human |
| Tgene | SERPINC1 | C0042487 | Venous Thrombosis | 3 | CTD_human |
| Tgene | SERPINC1 | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
| Tgene | SERPINC1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Tgene | SERPINC1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | SERPINC1 | C0162557 | Liver Failure, Acute | 1 | CTD_human |
| Tgene | SERPINC1 | C0752143 | Intracranial Thrombosis | 1 | CTD_human |
| Tgene | SERPINC1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| Tgene | SERPINC1 | C1861172 | Venous Thromboembolism | 1 | CTD_human |
| Tgene | SERPINC1 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
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