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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:DSP-COL4A1 (FusionGDB2 ID:HG1832TG1282) |
Fusion Gene Summary for DSP-COL4A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DSP-COL4A1 | Fusion gene ID: hg1832tg1282 | Hgene | Tgene | Gene symbol | DSP | COL4A1 | Gene ID | 1832 | 1282 |
| Gene name | desmoplakin | collagen type IV alpha 1 chain | |
| Synonyms | DCWHKTA|DP | BSVD|BSVD1|PADMAL|RATOR | |
| Cytomap | ('DSP')('COL4A1') 6p24.3 | 13q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P15924 | P02462 | |
| Ensembl transtripts involved in fusion gene | ENST00000379802, ENST00000418664, | ||
| Fusion gene scores | * DoF score | 16 X 19 X 11=3344 | 14 X 14 X 7=1372 |
| # samples | 22 | 16 | |
| ** MAII score | log2(22/3344*10)=-3.92599941855622 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1372*10)=-3.10013667128545 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DSP [Title/Abstract] AND COL4A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DSP(7568139)-COL4A1(110817337), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | DSP-COL4A1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. DSP-COL4A1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | ESCA | TCGA-V5-A7RC | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
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Fusion Gene ORF analysis for DSP-COL4A1 |
| 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 |
| 5CDS-intron | ENST00000379802 | ENST00000467182 | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
| 5CDS-intron | ENST00000379802 | ENST00000543140 | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
| 5CDS-intron | ENST00000418664 | ENST00000467182 | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
| 5CDS-intron | ENST00000418664 | ENST00000543140 | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
| Frame-shift | ENST00000379802 | ENST00000375820 | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
| Frame-shift | ENST00000418664 | ENST00000375820 | DSP | chr6 | 7568139 | + | COL4A1 | chr13 | 110817337 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DSP-COL4A1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for DSP-COL4A1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7568139/:110817337) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DSP | COL4A1 |
| FUNCTION: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes. | FUNCTION: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. {ECO:0000250|UniProtKB:P02463}.; FUNCTION: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:18775695}. |
| 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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Fusion Gene Sequence for DSP-COL4A1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for DSP-COL4A1 |
| 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 |
| - 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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Related Drugs for DSP-COL4A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | DSP | P15924 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | DSP | P15924 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational |
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Related Diseases for DSP-COL4A1 |
| 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 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | DSP | C1864826 | Epidermolysis bullosa, lethal acantholytic | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | DSP | C1852127 | KERATOSIS PALMOPLANTARIS STRIATA II | 5 | CTD_human;GENOMICS_ENGLAND |
| Hgene | DSP | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
| Hgene | DSP | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human |
| Hgene | DSP | C0085786 | Hamman-Rich syndrome | 1 | ORPHANET |
| Hgene | DSP | C1527303 | Chronic Airflow Obstruction | 1 | CTD_human |
| Hgene | DSP | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human |
| Hgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Hgene | DSP | C3809719 | Severe dermatitis, multiple allergies, metabolic wasting syndrome | 1 | ORPHANET |
| Hgene | DSP | C4707237 | Striate palmoplantar keratoderma | 1 | ORPHANET |
| Hgene | DSP | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
| Hgene | DSP | C4721508 | Hamman-Rich Disease | 1 | CTD_human |
| Hgene | DSP | C4721509 | Usual Interstitial Pneumonia | 1 | CTD_human |
| Hgene | DSP | C4721952 | Familial Idiopathic Pulmonary Fibrosis | 1 | CTD_human |
| Tgene | C4551998 | Porencephaly, Type 1, Autosomal Dominant | 18 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C2673195 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C1843512 | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C0018965 | Hematuria | 3 | GENOMICS_ENGLAND | |
| Tgene | C0266548 | Axenfeld anomaly (disorder) | 3 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C1860475 | Retinal vascular tortuosity | 3 | GENOMICS_ENGLAND | |
| Tgene | C0011881 | Diabetic Nephropathy | 2 | CTD_human | |
| Tgene | C0017667 | Nodular glomerulosclerosis | 2 | CTD_human | |
| Tgene | C0017668 | Focal glomerulosclerosis | 2 | CTD_human | |
| Tgene | C0086432 | Hyalinosis, Segmental Glomerular | 2 | CTD_human | |
| Tgene | C0265341 | Rieger syndrome | 2 | CTD_human | |
| Tgene | C0266484 | Schizencephaly | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0302892 | Congenital porencephaly | 2 | CTD_human | |
| Tgene | C1280768 | Axenfeld syndrome | 2 | CTD_human | |
| Tgene | C1867983 | PORENCEPHALY, FAMILIAL | 2 | CTD_human;ORPHANET | |
| Tgene | C2675650 | Brain Small Vessel Disease With Axenfeld-Rieger Anomaly | 2 | CTD_human | |
| Tgene | C2678503 | AXENFELD-RIEGER SYNDROME, TYPE 3 | 2 | CTD_human | |
| Tgene | C3281105 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | 2 | GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C3495488 | Axenfeld-Rieger syndrome | 2 | CTD_human | |
| Tgene | C3698507 | Post-traumatic Porencephaly | 2 | CTD_human | |
| Tgene | C3714873 | Axenfeld-Rieger Syndrome, Type 1 | 2 | CTD_human | |
| Tgene | C4082173 | Porencephaly | 2 | CTD_human | |
| Tgene | C4082301 | Developmental Porencephaly | 2 | CTD_human | |
| Tgene | C0002878 | Anemia, Hemolytic | 1 | CTD_human | |
| Tgene | C0002879 | Anemia, Hemolytic, Acquired | 1 | CTD_human | |
| Tgene | C0002889 | Anemia, Microangiopathic | 1 | CTD_human | |
| Tgene | C0015393 | Eye Abnormalities | 1 | CTD_human | |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
| Tgene | C0026848 | Myopathy | 1 | GENOMICS_ENGLAND | |
| Tgene | C0027726 | Nephrotic Syndrome | 1 | CTD_human | |
| Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
| Tgene | C0038454 | Cerebrovascular accident | 1 | GENOMICS_ENGLAND | |
| Tgene | C0149931 | Migraine Disorders | 1 | GENOMICS_ENGLAND | |
| Tgene | C0221021 | Microangiopathic hemolytic anemia | 1 | CTD_human | |
| Tgene | C0265221 | Walker-Warburg congenital muscular dystrophy | 1 | ORPHANET | |
| Tgene | C0270612 | Leukoencephalopathy | 1 | CTD_human | |
| Tgene | C0338656 | Impaired cognition | 1 | GENOMICS_ENGLAND | |
| Tgene | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND | |
| Tgene | C0497327 | Dementia | 1 | GENOMICS_ENGLAND | |
| Tgene | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND | |
| Tgene | C1135196 | Heart Failure, Diastolic | 1 | CTD_human | |
| Tgene | C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 1 | CTD_human | |
| Tgene | C1867327 | RETINAL ARTERIES, TORTUOSITY OF | 1 | CTD_human;ORPHANET;UNIPROT | |
| Tgene | C2733158 | Cerebral Small Vessel Diseases | 1 | GENOMICS_ENGLAND | |
| Tgene | C2930808 | Familial vascular leukoencephalopathy | 1 | ORPHANET | |
| Tgene | C2931870 | Familial schizencephaly | 1 | ORPHANET | |
| Tgene | C4013035 | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 1 | GENOMICS_ENGLAND |
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