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Fusion gene ID: 10598 |
FusionGeneSummary for DSP_HDLBP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DSP_HDLBP | Fusion gene ID: 10598 | Hgene | Tgene | Gene symbol | DSP | HDLBP | Gene ID | 1832 | 3069 |
| Gene name | desmoplakin | high density lipoprotein binding protein | |
| Synonyms | DCWHKTA|DP | HBP|PRO2900|VGL | |
| Cytomap | 6p24.3 | 2q37.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | vigilinHDL-binding protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P15924 | Q00341 | |
| Ensembl transtripts involved in fusion gene | ENST00000379802, ENST00000418664, | ENST00000391976, ENST00000310931, ENST00000391975, ENST00000427183, ENST00000476807, | |
| Fusion gene scores | * DoF score | 7 X 9 X 6=378 | 15 X 14 X 6=1260 |
| # samples | 11 | 16 | |
| ** MAII score | log2(11/378*10)=-1.78088271069641 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1260*10)=-2.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DSP [Title/Abstract] AND HDLBP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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 | DSP | GO:0018149 | peptide cross-linking | 10908733 |
| Hgene | DSP | GO:0030216 | keratinocyte differentiation | 10908733 |
| 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 | COAD | TCGA-DM-A0X9-01A | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| * 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 | ENST00000379802 | ENST00000391976 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000379802 | ENST00000310931 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000379802 | ENST00000391975 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000379802 | ENST00000427183 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| 5CDS-intron | ENST00000379802 | ENST00000476807 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000418664 | ENST00000391976 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000418664 | ENST00000310931 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000418664 | ENST00000391975 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| Frame-shift | ENST00000418664 | ENST00000427183 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
| 5CDS-intron | ENST00000418664 | ENST00000476807 | DSP | chr6 | 7575721 | + | HDLBP | chr2 | 242170359 | - |
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FusionProtFeatures for DSP_HDLBP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DSP | HDLBP |
| Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe anchoring of intermediate filaments to the desmosomes. | Appears to play a role in cell sterol metabolism. It mayfunction to protect cells from over-accumulation of cholesterol. |
| 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 DSP_HDLBP |
| 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 DSP_HDLBP |
| 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 |
| DSP | STK24, PKP3, PKP4, PKP2, CSTA, IVL, PECAM1, CDH5, JUP, DSC1, PKP1, VIM, KRT1, DES, DSP, PRKCE, PPP2R2A, UCHL5, INSIG2, SIRT7, CUL3, CDK2, CUL2, COPS5, CAND1, NEDD8, EVPL, AK2, PSEN1, OVCA2, VTN, PRKCA, TECR, RAB5B, HNMT, VCP, IFIT3, IQCB1, TARDBP, RPA1, RPA2, RPA3, WWOX, ZBTB1, TUBG1, CUL7, OBSL1, CCDC8, EED, SIRT6, FES, JAK1, HNRNPA1, NTRK1, KRT16, PTEN, PCM1, AHI1, OFD1, CEP152, CNTROB, CEP128, CNTRL, NINL, HIST1H3E, DYNLL1, SEC16A, NAP1L4, TELO2, SEC22A, HEATR3, CEP72, FOXA3, FOXE1, MCM2, MCM5, SNW1, CDC5L, CDC73, MTMR9, C6orf141, CCDC51, CDK15, CYLD, CDK1, COQ2, DLD, DLST, PDHA1, SDHA, SOAT1, G3BP1, BRCA1 | HDLBP | AKTIP, MAGEA6, XPOT, XRCC5, PRKDC, ADAR, DHX9, SOS1, SUV39H1, CBX5, ARRB1, SIRT7, CDK2, COPS5, PSMD12, VPS35, S100A11, VPS29, UPF1, VPS26A, VPS36, UBA6, VPS25, TTC4, TYRO3, UBE2A, PLAUR, TOPBP1, TTK, ATP6V1B2, S100A10, ZW10, UBE4B, ZNF598, VCP, CSNK2A1, SMAD4, FAM46A, DYNLL1, EIF2A, FAU, KCMF1, IKBKG, WWOX, LGR4, OBSL1, CCDC8, ESR1, SERPINB5, BPGM, TMEM171, PTCRA, ZCCHC7, SERPINB3, ACTL6A, CYP1A1, HSPB1, CLUH, DDX43, GLMN, SMS, SAC3D1, NTRK1, SCARNA22, ERBB2, KIF11, MLH1, YBX1, SNW1, CDC5L, CDH1, STYX, WDR59, SERPINB2, CCDC102B, GTF2E2, HDHD2, SNRNP27, FGB, HSPA8, IL20RA, USP47, SYNCRIP, DLD, PDHA1, SDHA |
| - 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 DSP_HDLBP |
| 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 | DSP | P15924 | DB01593 | Zinc | Desmoplakin | small molecule | approved|investigational |
| Hgene | DSP | P15924 | DB11638 | Artenimol | Desmoplakin | small molecule | approved|investigational |
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RelatedDiseases for DSP_HDLBP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 3 | CTD_human;UNIPROT |
| Hgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 2 | UNIPROT |
| Hgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
| Hgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Hgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 1 | CTD_human;ORPHANET |
| Tgene | HDLBP | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | HDLBP | C2931817 | Chromosome 2q37 deletion syndrome | 1 | CTD_human |
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