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Fusion gene ID: 10085 |
FusionGeneSummary for DLG1_PCSK5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DLG1_PCSK5 | Fusion gene ID: 10085 | Hgene | Tgene | Gene symbol | DLG1 | PCSK5 | Gene ID | 1739 | 5125 |
Gene name | discs large MAGUK scaffold protein 1 | proprotein convertase subtilisin/kexin type 5 | |
Synonyms | DLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlg | PC5|PC6|PC6A|SPC6 | |
Cytomap | 3q29 | 9q21.13 | |
Type of gene | protein-coding | protein-coding | |
Description | disks large homolog 1discs large homolog 1, scribble cell polarity complex componentdiscs, large homolog 1 transcript variant 6-v1discs, large homolog 1 transcript variant 6-v2presynaptic protein SAP97synapse-associated protein 97 | proprotein convertase subtilisin/kexin type 5prohormone convertase 5proprotein convertase 6protease PC6subtilasesubtilisin/kexin-like protease PC5 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q12959 | Q92824 | |
Ensembl transtripts involved in fusion gene | ENST00000357674, ENST00000314062, ENST00000346964, ENST00000419354, ENST00000452595, ENST00000422288, ENST00000448528, ENST00000443183, ENST00000450955, ENST00000392382, ENST00000485409, | ENST00000545128, ENST00000376767, ENST00000376752, | |
Fusion gene scores | * DoF score | 20 X 10 X 13=2600 | 3 X 3 X 3=27 |
# samples | 23 | 3 | |
** MAII score | log2(23/2600*10)=-3.49880585697144 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: DLG1 [Title/Abstract] AND PCSK5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 | DLG1 | GO:0001935 | endothelial cell proliferation | 14699157 |
Hgene | DLG1 | GO:0007015 | actin filament organization | 14699157 |
Hgene | DLG1 | GO:0030866 | cortical actin cytoskeleton organization | 14699157 |
Hgene | DLG1 | GO:0042391 | regulation of membrane potential | 12970345 |
Hgene | DLG1 | GO:0043268 | positive regulation of potassium ion transport | 12970345 |
Hgene | DLG1 | GO:0070830 | bicellular tight junction assembly | 17332497 |
Hgene | DLG1 | GO:0098609 | cell-cell adhesion | 14699157 |
Hgene | DLG1 | GO:1903078 | positive regulation of protein localization to plasma membrane | 12970345 |
Tgene | PCSK5 | GO:0006465 | signal peptide processing | 16912035 |
Tgene | PCSK5 | GO:0016485 | protein processing | 8901832|15606899 |
Tgene | PCSK5 | GO:0016486 | peptide hormone processing | 8901832 |
Tgene | 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 | STAD | TCGA-BR-8060-01A | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
* 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 | ENST00000357674 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000357674 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000357674 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000314062 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000314062 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000314062 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000346964 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000346964 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000346964 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000419354 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000419354 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000419354 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-3CDS | ENST00000452595 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-intron | ENST00000452595 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-intron | ENST00000452595 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000422288 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000422288 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000422288 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000448528 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000448528 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000448528 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-3CDS | ENST00000443183 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-intron | ENST00000443183 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-intron | ENST00000443183 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000450955 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000450955 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000450955 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
Frame-shift | ENST00000392382 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000392382 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
5CDS-intron | ENST00000392382 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-3CDS | ENST00000485409 | ENST00000545128 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-intron | ENST00000485409 | ENST00000376767 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
intron-intron | ENST00000485409 | ENST00000376752 | DLG1 | chr3 | 196921296 | - | PCSK5 | chr9 | 78936338 | + |
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FusionProtFeatures for DLG1_PCSK5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DLG1 | PCSK5 |
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 DLG1_PCSK5 |
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 DLG1_PCSK5 |
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 |
DLG1 | KCNA4, ADAM17, KCNJ12, KCNJ4, GPR124, CASK, LIN7A, LIN7C, APBA1, KCNA5, GRIN2A, CAMK2A, GRIA1, BTRC, ACTN2, CACNG2, GRIN2B, EPB41, ATP2B4, CRIPT, DLGAP1, KCNJ6, GRIK2, TJAP1, LRRC1, ERBB4, ATP2B2, EZR, KIF13B, CTNNA1, KCNJ2, GUCY1A2, LCK, KCNA3, MARCH2, AMOT, UBE3A, NET1, KHDRBS1, KCNC1, MAP1A, BAI1, HUWE1, ADAM10, NTRK1, TMEM17, DLG3, KIF26B, MAPK12, PARK2, CDH1, TGFA, PTPRE, PTEN, MPP2, EFNB3, GJB7, PRDM1, GPRC5B, WWC1 | 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 |
- 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 DLG1_PCSK5 |
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 DLG1_PCSK5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DLG1 | C0036341 | Schizophrenia | 3 | CTD_human |
Hgene | DLG1 | C0008925 | Cleft Palate | 1 | CTD_human |
Tgene | PCSK5 | C0003466 | Anus, Imperforate | 1 | CTD_human |
Tgene | PCSK5 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Tgene | PCSK5 | C0018816 | Heart Septal Defects | 1 | CTD_human |
Tgene | PCSK5 | C0018818 | Ventricular Septal Defects | 1 | CTD_human |
Tgene | PCSK5 | C0022360 | Jaw Abnormalities | 1 | CTD_human |
Tgene | PCSK5 | C0022658 | Kidney Diseases | 1 | CTD_human |
Tgene | PCSK5 | C0024115 | Lung diseases | 1 | CTD_human |
Tgene | PCSK5 | C0026633 | Mouth Abnormalities | 1 | CTD_human |
Tgene | PCSK5 | C0040588 | Tracheoesophageal Fistula | 1 | CTD_human |
Tgene | PCSK5 | C0220708 | VATER Association | 1 | CTD_human |
Tgene | PCSK5 | C0431943 | Lower Extremity Deformities, Congenital | 1 | CTD_human |
Tgene | PCSK5 | C1306503 | Congenital exomphalos | 1 | CTD_human |
Tgene | PCSK5 | C1531773 | Currarino triad | 1 | CTD_human |
Tgene | PCSK5 | C1838568 | Sacral defect and anterior sacral meningocele | 1 | CTD_human |