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Fusion gene ID: 26301 |
FusionGeneSummary for PCSK5_COL18A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PCSK5_COL18A1 | Fusion gene ID: 26301 | Hgene | Tgene | Gene symbol | PCSK5 | COL18A1 | Gene ID | 5125 | 80781 |
| Gene name | proprotein convertase subtilisin/kexin type 5 | collagen type XVIII alpha 1 chain | |
| Synonyms | PC5|PC6|PC6A|SPC6 | KNO|KNO1|KS | |
| Cytomap | 9q21.13 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | proprotein convertase subtilisin/kexin type 5prohormone convertase 5proprotein convertase 6protease PC6subtilasesubtilisin/kexin-like protease PC5 | collagen alpha-1(XVIII) chainantiangiogenic agentcollagen alpha-1(XVIII) chain isoform 1 preproproteincollagen, type XVIII, alpha 1endostatinmulti-functional protein MFP | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q92824 | P39060 | |
| Ensembl transtripts involved in fusion gene | ENST00000545128, ENST00000376767, ENST00000376752, | ENST00000400337, ENST00000355480, ENST00000359759, ENST00000459895, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 4 X 3 X 3=36 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PCSK5 [Title/Abstract] AND COL18A1 [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 | PCSK5 | GO:0006465 | signal peptide processing | 16912035 |
| Hgene | PCSK5 | GO:0016485 | protein processing | 8901832|15606899 |
| Hgene | PCSK5 | GO:0016486 | peptide hormone processing | 8901832 |
| Hgene | PCSK5 | GO:0043043 | peptide biosynthetic process | 8901832 |
| 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 | PCPG | TCGA-RW-A8AZ-01A | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| * 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 | ENST00000545128 | ENST00000400337 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000545128 | ENST00000355480 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000545128 | ENST00000359759 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| 5CDS-intron | ENST00000545128 | ENST00000459895 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000376767 | ENST00000400337 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000376767 | ENST00000355480 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000376767 | ENST00000359759 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| 5CDS-intron | ENST00000376767 | ENST00000459895 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000376752 | ENST00000400337 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000376752 | ENST00000355480 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| Frame-shift | ENST00000376752 | ENST00000359759 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
| 5CDS-intron | ENST00000376752 | ENST00000459895 | PCSK5 | chr9 | 78547399 | + | COL18A1 | chr21 | 46888156 | + |
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FusionProtFeatures for PCSK5_COL18A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PCSK5 | COL18A1 |
| Serine endoprotease that processes various proproteinsby cleavage at paired basic amino acids, recognizing the RXXX[KR]Rconsensus motif. Likely functions in the constitutive andregulated secretory pathways. Plays an essential role in pregnancyestablishment by proteolytic activation of a number of importantfactors such as BMP2, CALD1 and alpha-integrins.{ECO:0000269|PubMed:19764806, ECO:0000269|PubMed:20555025,ECO:0000269|PubMed:22740495}. |
| 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 PCSK5_COL18A1 |
| 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 PCSK5_COL18A1 |
| 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 |
| PCSK5 | APPBP2, CACNA1A, ATN1, KRTAP5-9, MEOX2, STK16, GLRX3, NUFIP2, KRTAP4-12, LCE3C, KRTAP10-7, KRTAP10-8, KRTAP10-3, NOTCH2NL, PLAUR, PTPRK, NAAA, GPHA2, PLA2G10, LYPD1, PRG3, INSL5, LYPD4, CELA3A, SLAMF1, PRG2 | COL18A1 | KDR, TECPR1, HNRNPD, FBXO6, TUBG1, FUS, TAZ, C1QTNF9, TMEM25, PTCH1, SIAE, COL8A2, LIPH, OLFM4, ITCH, PLOD1, MMP2, CRP, MMP9, DEFA1, TRIM11, C1QL4, APP |
| - 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 PCSK5_COL18A1 |
| 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 PCSK5_COL18A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PCSK5 | C0003466 | Anus, Imperforate | 1 | CTD_human |
| Hgene | PCSK5 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Hgene | PCSK5 | C0018816 | Heart Septal Defects | 1 | CTD_human |
| Hgene | PCSK5 | C0018818 | Ventricular Septal Defects | 1 | CTD_human |
| Hgene | PCSK5 | C0022360 | Jaw Abnormalities | 1 | CTD_human |
| Hgene | PCSK5 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Hgene | PCSK5 | C0024115 | Lung diseases | 1 | CTD_human |
| Hgene | PCSK5 | C0026633 | Mouth Abnormalities | 1 | CTD_human |
| Hgene | PCSK5 | C0040588 | Tracheoesophageal Fistula | 1 | CTD_human |
| Hgene | PCSK5 | C0220708 | VATER Association | 1 | CTD_human |
| Hgene | PCSK5 | C0431943 | Lower Extremity Deformities, Congenital | 1 | CTD_human |
| Hgene | PCSK5 | C1306503 | Congenital exomphalos | 1 | CTD_human |
| Hgene | PCSK5 | C1531773 | Currarino triad | 1 | CTD_human |
| Hgene | PCSK5 | C1838568 | Sacral defect and anterior sacral meningocele | 1 | CTD_human |
| Tgene | COL18A1 | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | COL18A1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | COL18A1 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| Tgene | COL18A1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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