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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-IGKC (FusionGDB2 ID:HG1832TG3514) |
Fusion Gene Summary for DSP-IGKC |
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Fusion gene information | Fusion gene name: DSP-IGKC | Fusion gene ID: hg1832tg3514 | Hgene | Tgene | Gene symbol | DSP | IGKC | Gene ID | 1832 | 3514 |
Gene name | desmoplakin | ||
Synonyms | DCWHKTA|DP | ||
Cytomap | ('DSP')('IGKC') 6p24.3 | ||
Type of gene | protein-coding | ||
Description | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | ||
Modification date | 20200327 | ||
UniProtAcc | P15924 | P01834 | |
Ensembl transtripts involved in fusion gene | ENST00000379802, ENST00000418664, | ||
Fusion gene scores | * DoF score | 16 X 19 X 11=3344 | 160 X 66 X 20=211200 |
# samples | 22 | 149 | |
** MAII score | log2(22/3344*10)=-3.92599941855622 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(149/211200*10)=-7.14715369378365 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DSP [Title/Abstract] AND IGKC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DSP(7569562)-IGKC(89161429), # samples:1 DSP(7559516)-IGKC(89161431), # samples:1 DSP(7559516)-IGKC(89160431), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DSP | GO:0018149 | peptide cross-linking | 10908733 |
Hgene | DSP | GO:0030216 | keratinocyte differentiation | 10908733 |
![]() * 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 | HNSC | TCGA-CN-5358 | DSP | chr6 | 7569562 | + | IGKC | chr2 | 89161429 | - |
ChimerDB4 | THCA | TCGA-DJ-A2Q9-01A | DSP | chr6 | 7559516 | + | IGKC | chr2 | 89160431 | - |
ChimerDB4 | THCA | TCGA-DJ-A2Q9-01A | DSP | chr6 | 7559516 | + | IGKC | chr2 | 89161431 | - |
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Fusion Gene ORF analysis for DSP-IGKC |
![]() * 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 | ENST00000390237 | DSP | chr6 | 7569562 | + | IGKC | chr2 | 89161429 | - |
5CDS-intron | ENST00000379802 | ENST00000390237 | DSP | chr6 | 7559516 | + | IGKC | chr2 | 89160431 | - |
5CDS-intron | ENST00000379802 | ENST00000390237 | DSP | chr6 | 7559516 | + | IGKC | chr2 | 89161431 | - |
5CDS-intron | ENST00000418664 | ENST00000390237 | DSP | chr6 | 7569562 | + | IGKC | chr2 | 89161429 | - |
5CDS-intron | ENST00000418664 | ENST00000390237 | DSP | chr6 | 7559516 | + | IGKC | chr2 | 89160431 | - |
5CDS-intron | ENST00000418664 | ENST00000390237 | DSP | chr6 | 7559516 | + | IGKC | chr2 | 89161431 | - |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DSP-IGKC |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for DSP-IGKC |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7569562/:89161429) - 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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Hgene | Tgene |
DSP | IGKC |
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: Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. |
![]() * 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-IGKC |
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Fusion Gene PPI Analysis for DSP-IGKC |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for DSP-IGKC |
![]() (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-IGKC |
![]() (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 | C3279824 | Kappa-Chain Deficiency | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0013374 | Dysgammaglobulinemia | 1 | CTD_human | |
Tgene | C0019209 | Hepatomegaly | 1 | CTD_human | |
Tgene | C0027121 | Myositis | 1 | CTD_human | |
Tgene | C0158353 | Infectious Myositis | 1 | CTD_human | |
Tgene | C0231221 | Asymptomatic | 1 | GENOMICS_ENGLAND | |
Tgene | C0544796 | Myositis, Proliferative | 1 | CTD_human | |
Tgene | C0751356 | Idiopathic Inflammatory Myopathies | 1 | CTD_human | |
Tgene | C0751357 | Myositis, Focal | 1 | CTD_human |