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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:DSG1-DSP (FusionGDB2 ID:HG1828TG1832) |
Fusion Gene Summary for DSG1-DSP |
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Fusion gene information | Fusion gene name: DSG1-DSP | Fusion gene ID: hg1828tg1832 | Hgene | Tgene | Gene symbol | DSG1 | DSP | Gene ID | 1828 | 1832 |
Gene name | desmoglein 1 | desmoplakin | |
Synonyms | CDHF4|DG1|DSG|EPKHE|EPKHIA|PPKS1|SPPK1 | DCWHKTA|DP | |
Cytomap | ('DSG1')('DSP') 18q12.1 | 6p24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | desmoglein-1cadherin family member 4desmosomal glycoprotein 1pemphigus foliaceus antigen | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | P15924 | |
Ensembl transtripts involved in fusion gene | ENST00000257192, ENST00000462981, | ||
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 22 X 19 X 10=4180 |
# samples | 4 | 26 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(26/4180*10)=-4.00691941393979 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DSG1 [Title/Abstract] AND DSP [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DSG1(28911830)-DSP(7568014), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | DSG1-DSP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DSG1-DSP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DSG1-DSP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. DSG1-DSP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | DSG1 | GO:0050821 | protein stabilization | 7983064 |
Tgene | DSP | GO:0018149 | peptide cross-linking | 10908733 |
Tgene | DSP | GO:0030216 | keratinocyte differentiation | 10908733 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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-4726-01A | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + |
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Fusion Gene ORF analysis for DSG1-DSP |
![]() * 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 |
In-frame | ENST00000257192 | ENST00000379802 | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + |
In-frame | ENST00000257192 | ENST00000418664 | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + |
intron-3CDS | ENST00000462981 | ENST00000379802 | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + |
intron-3CDS | ENST00000462981 | ENST00000418664 | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + |
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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) |
ENST00000257192 | DSG1 | chr18 | 28911830 | + | ENST00000379802 | DSP | chr6 | 7568014 | + | 9211 | 896 | 212 | 8371 | 2719 |
ENST00000257192 | DSG1 | chr18 | 28911830 | + | ENST00000418664 | DSP | chr6 | 7568014 | + | 7269 | 896 | 212 | 6574 | 2120 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000257192 | ENST00000379802 | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + | 0.003334882 | 0.99666506 |
ENST00000257192 | ENST00000418664 | DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568014 | + | 0.001768256 | 0.9982318 |
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Fusion Genomic Features for DSG1-DSP |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568013 | + | 1.99E-07 | 0.99999976 |
DSG1 | chr18 | 28911830 | + | DSP | chr6 | 7568013 | + | 1.99E-07 | 0.99999976 |
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Fusion Protein Features for DSG1-DSP |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr18:28911830/chr6:7568014) - 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 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | 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. |
![]() * 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 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 50_158 | 228 | 1050.0 | Domain | Cadherin 1 |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 1018_1945 | 380 | 2872.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 1018_1945 | 380 | 2273.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 458_515 | 380 | 2872.0 | Domain | SH3 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 458_515 | 380 | 2273.0 | Domain | SH3 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 1057_1945 | 380 | 2872.0 | Region | Note=Central fibrous rod domain | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 1946_2871 | 380 | 2872.0 | Region | Note=Globular 2 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 1960_2208 | 380 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain A) | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2244_2446 | 380 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain B) | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2609_2822 | 380 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain C) | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2824_2847 | 380 | 2872.0 | Region | Note=6 X 4 AA tandem repeats of G-S-R-[SR] | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 1057_1945 | 380 | 2273.0 | Region | Note=Central fibrous rod domain | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 1946_2871 | 380 | 2273.0 | Region | Note=Globular 2 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 1960_2208 | 380 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain A) | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2244_2446 | 380 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain B) | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2609_2822 | 380 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain C) | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2824_2847 | 380 | 2273.0 | Region | Note=6 X 4 AA tandem repeats of G-S-R-[SR] | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2009_2045 | 380 | 2872.0 | Repeat | Note=Plectin 1 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2046_2083 | 380 | 2872.0 | Repeat | Note=Plectin 2 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2084_2121 | 380 | 2872.0 | Repeat | Note=Plectin 3 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2122_2159 | 380 | 2872.0 | Repeat | Note=Plectin 4 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2163_2197 | 380 | 2872.0 | Repeat | Note=Plectin 5 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2198_2233 | 380 | 2872.0 | Repeat | Note=Plectin 6 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2251_2288 | 380 | 2872.0 | Repeat | Note=Plectin 7 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2289_2326 | 380 | 2872.0 | Repeat | Note=Plectin 8 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2327_2364 | 380 | 2872.0 | Repeat | Note=Plectin 9 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2365_2402 | 380 | 2872.0 | Repeat | Note=Plectin 10 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2406_2440 | 380 | 2872.0 | Repeat | Note=Plectin 11 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2456_2493 | 380 | 2872.0 | Repeat | Note=Plectin 12 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2507_2544 | 380 | 2872.0 | Repeat | Note=Plectin 13 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2610_2647 | 380 | 2872.0 | Repeat | Note=Plectin 14 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2648_2685 | 380 | 2872.0 | Repeat | Note=Plectin 15 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2724_2761 | 380 | 2872.0 | Repeat | Note=Plectin 16 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 2762_2799 | 380 | 2872.0 | Repeat | Note=Plectin 17 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 516_545 | 380 | 2872.0 | Repeat | Note=Spectrin 3b | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 546_627 | 380 | 2872.0 | Repeat | Note=Spectrin 4 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 654_769 | 380 | 2872.0 | Repeat | Note=Spectrin 5 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 770_883 | 380 | 2872.0 | Repeat | Note=Spectrin 6 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2009_2045 | 380 | 2273.0 | Repeat | Note=Plectin 1 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2046_2083 | 380 | 2273.0 | Repeat | Note=Plectin 2 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2084_2121 | 380 | 2273.0 | Repeat | Note=Plectin 3 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2122_2159 | 380 | 2273.0 | Repeat | Note=Plectin 4 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2163_2197 | 380 | 2273.0 | Repeat | Note=Plectin 5 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2198_2233 | 380 | 2273.0 | Repeat | Note=Plectin 6 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2251_2288 | 380 | 2273.0 | Repeat | Note=Plectin 7 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2289_2326 | 380 | 2273.0 | Repeat | Note=Plectin 8 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2327_2364 | 380 | 2273.0 | Repeat | Note=Plectin 9 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2365_2402 | 380 | 2273.0 | Repeat | Note=Plectin 10 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2406_2440 | 380 | 2273.0 | Repeat | Note=Plectin 11 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2456_2493 | 380 | 2273.0 | Repeat | Note=Plectin 12 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2507_2544 | 380 | 2273.0 | Repeat | Note=Plectin 13 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2610_2647 | 380 | 2273.0 | Repeat | Note=Plectin 14 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2648_2685 | 380 | 2273.0 | Repeat | Note=Plectin 15 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2724_2761 | 380 | 2273.0 | Repeat | Note=Plectin 16 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 2762_2799 | 380 | 2273.0 | Repeat | Note=Plectin 17 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 516_545 | 380 | 2273.0 | Repeat | Note=Spectrin 3b | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 546_627 | 380 | 2273.0 | Repeat | Note=Spectrin 4 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 654_769 | 380 | 2273.0 | Repeat | Note=Spectrin 5 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 770_883 | 380 | 2273.0 | Repeat | Note=Spectrin 6 |
- 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 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 969_1019 | 228 | 1050.0 | Compositional bias | Note=Gly/Ser-rich |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 159_270 | 228 | 1050.0 | Domain | Cadherin 2 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 271_385 | 228 | 1050.0 | Domain | Cadherin 3 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 386_497 | 228 | 1050.0 | Domain | Cadherin 4 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 813_839 | 228 | 1050.0 | Repeat | Note=Desmoglein repeat 1 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 840_869 | 228 | 1050.0 | Repeat | Note=Desmoglein repeat 2 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 870_899 | 228 | 1050.0 | Repeat | Note=Desmoglein repeat 3 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 900_927 | 228 | 1050.0 | Repeat | Note=Desmoglein repeat 4 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 928_956 | 228 | 1050.0 | Repeat | Note=Desmoglein repeat 5 |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 50_548 | 228 | 1050.0 | Topological domain | Extracellular |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 570_1049 | 228 | 1050.0 | Topological domain | Cytoplasmic |
Hgene | DSG1 | chr18:28911830 | chr6:7568014 | ENST00000257192 | + | 6 | 15 | 549_569 | 228 | 1050.0 | Transmembrane | Helical |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 1_1056 | 380 | 2872.0 | Region | Note=Globular 1 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 1_1056 | 380 | 2273.0 | Region | Note=Globular 1 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 178_271 | 380 | 2872.0 | Repeat | Note=Spectrin 1 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 272_375 | 380 | 2872.0 | Repeat | Note=Spectrin 2 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 376_446 | 380 | 2872.0 | Repeat | Note=Spectrin 3a | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 178_271 | 380 | 2273.0 | Repeat | Note=Spectrin 1 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 272_375 | 380 | 2273.0 | Repeat | Note=Spectrin 2 | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 376_446 | 380 | 2273.0 | Repeat | Note=Spectrin 3a |
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Fusion Gene Sequence for DSG1-DSP |
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>24240_24240_1_DSG1-DSP_DSG1_chr18_28911830_ENST00000257192_DSP_chr6_7568014_ENST00000379802_length(transcript)=9211nt_BP=896nt CCAGCCCAAGTTTTTAGGGTGGGGATCCAGACTGGTTATACGTACCTTCAGTCCTTCTCCCAGAGGAAGGCAGAAACACCTCAAAGCCTG CATGTAAGAACATCTACTGAGAAATTATTTTAATCAGACACCAGCTGAGTGGGAGAAAGAAAAAGAACAGAGAAGAACAAACAAAACTCC CTTGGTCTTGGATGTAAGAGAATCCAGCAGAGATGGACTGGAGTTTCTTCAGAGTAGTTGCAATGCTGTTCATTTTTCTGGTGGTGGTAG AAGTTAACAGTGAATTCCGAATCCAGGTAAGAGATTATAACACTAAAAATGGCACCATCAAATGGCATTCAATCCGAAGGCAGAAACGTG AATGGATCAAGTTCGCAGCAGCCTGTCGTGAAGGTGAAGACAACTCAAAGAGGAACCCAATCGCCAAAATTCACTCAGATTGTGCTGCAA ACCAGCAAGTTACATACCGCATCTCTGGAGTAGGAATTGATCAGCCACCATATGGGATCTTTGTCATTAATCAGAAAACTGGTGAAATTA ATATAACATCCATAGTTGATCGAGAGGTCACTCCTTTCTTCATTATCTACTGCCGAGCTCTGAACTCAATGGGCCAAGATTTAGAGAGGC CTCTAGAGCTCAGAGTCAGGGTTTTGGATATAAATGACAACCCTCCAGTGTTTTCAATGGCTACATTTGCAGGACAAATAGAAGAAAATT CTAATGCAAATACACTGGTGATGATACTCAATGCTACTGACGCAGATGAACCGAACAATTTGAACTCAAAAATAGCCTTCAAGATTATAA GACAAGAACCTTCAGATTCACCAATGTTTATTATCAACAGAAATACTGGAGAAATTCGAACGATGAATAATTTTCTAGACAGAGAGTTTT TTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGC AGCACCTGCTGGAACAGATCAAGGAGCTGGAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGT CTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAG ATCAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTG ACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGATTGAGCAGTACTACGAAG CCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGG CCATGACAATCGCCAAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCA GAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCC TGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATA ATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACT GCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGAGTG TGCAGAATGATTCACAAGCAATTGCTGAGGTTCTCAACCAGCTTAAAGATATGCTTGCCAACTTCAGAGGTTCTGAAAAGTACTGCTATT TACAGAATGAAGTATTTGGACTATTTCAGAAACTGGAAAATATCAATGGTGTTACAGATGGCTACTTAAATAGCTTATGCACAGTAAGGG CACTGCTCCAGGCTATTCTCCAAACAGAAGACATGTTAAAGGTTTATGAAGCCAGGCTCACTGAGGAGGAAACTGTCTGCCTGGACCTGG ATAAAGTGGAAGCTTACCGCTGTGGACTGAAGAAAATAAAAAATGACTTGAACTTGAAGAAGTCGTTGTTGGCCACTATGAAGACAGAAC TACAGAAAGCCCAGCAGATCCACTCTCAGACTTCACAGCAGTATCCACTTTATGATCTGGACTTGGGCAAGTTCGGTGAAAAAGTCACAC AGCTGACAGACCGCTGGCAAAGGATAGATAAACAGATCGACTTTAGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAATTATC GTGATAACTATCAGGCTTTCTGCAAGTGGCTCTATGATGCTAAACGCCGCCAGGATTCCTTAGAATCCATGAAATTTGGAGATTCCAACA CAGTCATGCGGTTTTTGAATGAGCAGAAGAACTTGCACAGTGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAAAAATTGCTG AACTTTGCGCCAATTCAATTAAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGA GGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAG ACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCA GACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGT TCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACG GCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGAT TTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGA AAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGC TGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCA AGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATG AAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCT CTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGT CCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCT GGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACA TCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAA ACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAAC AGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGA GCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACA AAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGA CGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGA AGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGA GGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAA TCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATG GCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAAC AGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAG AAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACG ATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACC GGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTT TAGAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCC TGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGC GCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAG AATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGA GGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAAC TCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGA GGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGG AAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGG TAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCC ATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAG CTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAA TGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGG GGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCA GTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAG GAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTT CTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGC TTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAG TGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTG CAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGG GCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCAT ATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAG AAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAAC AGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGG CCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAG ATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGA AGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCA GCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATT TAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCT CCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCC ACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTC AGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGG CTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCC GGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAA AAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGG GCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCC GCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACT AGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTT GCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCT TAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTT GTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAA ATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCC CCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCG ATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCA TATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATA TGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAA AAAACTATTTGGTTCTGAATTCTTACTAGAA >24240_24240_1_DSG1-DSP_DSG1_chr18_28911830_ENST00000257192_DSP_chr6_7568014_ENST00000379802_length(amino acids)=2719AA_BP=228 MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACREGEDNSKRNPIAKIHSDCAANQQVTYRISGV GIDQPPYGIFVINQKTGEINITSIVDREVTPFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILN ATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKELE KEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNERSKWYVTGPGGVDMLVPSVGLII PPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMFGD DDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLP LADQGSSHHITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQTED MLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHSQTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDK QIDFRLWDLEKQIKQLRNYRDNYQAFCKWLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYE LQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSENC NKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYDQL QKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYNEEMSNLRNKYETEINITKTTIKEISMQKEDDS KNLRNQLDRLSRENRDLKDEIVRLNDSILQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTIQD KNKEIERLKAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTRENRSLSEEIKRL KNTLTQTTENLRRVEEDIQQQKATGSEVSQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCLED ENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQNSLKELQLQKQKVEEELNRLKRTASEDSCKRK KLEEELEGMRRSLKEQAIKITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHLRN EHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSEADSDKNATILELRSQLQISNNRTLELQGLIND LQRERENLRQEIEKFQKQALEASNRIQESKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQN DLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSHRE TQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLISP ESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPFSGKTVSVSEAIKKNLIDRETGMRLLEAQIASG GVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTEL VDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRLPV EEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEELS EILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYET FKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDDVF SSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGIVDSITGQRLLEAQACTGGIIHPTTGQKLSLQ DAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQ RLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDA TGNSSYSYSYSFSSSSIGH -------------------------------------------------------------- >24240_24240_2_DSG1-DSP_DSG1_chr18_28911830_ENST00000257192_DSP_chr6_7568014_ENST00000418664_length(transcript)=7269nt_BP=896nt CCAGCCCAAGTTTTTAGGGTGGGGATCCAGACTGGTTATACGTACCTTCAGTCCTTCTCCCAGAGGAAGGCAGAAACACCTCAAAGCCTG CATGTAAGAACATCTACTGAGAAATTATTTTAATCAGACACCAGCTGAGTGGGAGAAAGAAAAAGAACAGAGAAGAACAAACAAAACTCC CTTGGTCTTGGATGTAAGAGAATCCAGCAGAGATGGACTGGAGTTTCTTCAGAGTAGTTGCAATGCTGTTCATTTTTCTGGTGGTGGTAG AAGTTAACAGTGAATTCCGAATCCAGGTAAGAGATTATAACACTAAAAATGGCACCATCAAATGGCATTCAATCCGAAGGCAGAAACGTG AATGGATCAAGTTCGCAGCAGCCTGTCGTGAAGGTGAAGACAACTCAAAGAGGAACCCAATCGCCAAAATTCACTCAGATTGTGCTGCAA ACCAGCAAGTTACATACCGCATCTCTGGAGTAGGAATTGATCAGCCACCATATGGGATCTTTGTCATTAATCAGAAAACTGGTGAAATTA ATATAACATCCATAGTTGATCGAGAGGTCACTCCTTTCTTCATTATCTACTGCCGAGCTCTGAACTCAATGGGCCAAGATTTAGAGAGGC CTCTAGAGCTCAGAGTCAGGGTTTTGGATATAAATGACAACCCTCCAGTGTTTTCAATGGCTACATTTGCAGGACAAATAGAAGAAAATT CTAATGCAAATACACTGGTGATGATACTCAATGCTACTGACGCAGATGAACCGAACAATTTGAACTCAAAAATAGCCTTCAAGATTATAA GACAAGAACCTTCAGATTCACCAATGTTTATTATCAACAGAAATACTGGAGAAATTCGAACGATGAATAATTTTCTAGACAGAGAGTTTT TTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAGAACATGCCCCTGC AGCACCTGCTGGAACAGATCAAGGAGCTGGAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACAAGT CTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAG ATCAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTG ACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGATTGAGCAGTACTACGAAG CCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGG CCATGACAATCGCCAAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCA GAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCC TGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATA ATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACT GCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGAGTG TGCAGAATGATTCACAAGCAATTGCTGAGGTTCTCAACCAGCTTAAAGATATGCTTGCCAACTTCAGAGGTTCTGAAAAGTACTGCTATT TACAGAATGAAGTATTTGGACTATTTCAGAAACTGGAAAATATCAATGGTGTTACAGATGGCTACTTAAATAGCTTATGCACAGTAAGGG CACTGCTCCAGGCTATTCTCCAAACAGAAGACATGTTAAAGGTTTATGAAGCCAGGCTCACTGAGGAGGAAACTGTCTGCCTGGACCTGG ATAAAGTGGAAGCTTACCGCTGTGGACTGAAGAAAATAAAAAATGACTTGAACTTGAAGAAGTCGTTGTTGGCCACTATGAAGACAGAAC TACAGAAAGCCCAGCAGATCCACTCTCAGACTTCACAGCAGTATCCACTTTATGATCTGGACTTGGGCAAGTTCGGTGAAAAAGTCACAC AGCTGACAGACCGCTGGCAAAGGATAGATAAACAGATCGACTTTAGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAATTATC GTGATAACTATCAGGCTTTCTGCAAGTGGCTCTATGATGCTAAACGCCGCCAGGATTCCTTAGAATCCATGAAATTTGGAGATTCCAACA CAGTCATGCGGTTTTTGAATGAGCAGAAGAACTTGCACAGTGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAAAAATTGCTG AACTTTGCGCCAATTCAATTAAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGA GGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTTACAAGATCTGGAG ACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCA GACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGT TCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACG GCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGAT TTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGA AAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGC TGGCAAAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAG TCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAAC AGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGA TAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAG AGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATA AACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGC TGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAG TGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTT TGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATC CCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAA AAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCG GAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCC GGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGG TCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCC AAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGA TTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGA AGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTA TAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGT CTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAA AGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAG CATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTG AAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGA AACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGG AGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGAT CAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACA GGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCA GCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGA ATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAA TCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCA TCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTG CTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATG AGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCA TCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAAT TAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCA AGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGT CCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGC ACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTG CTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCT TCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGA TTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAAT TAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAG CCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCT TCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTG TCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTG >24240_24240_2_DSG1-DSP_DSG1_chr18_28911830_ENST00000257192_DSP_chr6_7568014_ENST00000418664_length(amino acids)=2120AA_BP=228 MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACREGEDNSKRNPIAKIHSDCAANQQVTYRISGV GIDQPPYGIFVINQKTGEINITSIVDREVTPFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILN ATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKELE KEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNERSKWYVTGPGGVDMLVPSVGLII PPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMFGD DDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLP LADQGSSHHITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQTED MLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHSQTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDK QIDFRLWDLEKQIKQLRNYRDNYQAFCKWLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYE LQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSENC NKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYDQL QKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKASNRIQESKNQCTQVVQERESLLVKIKVLEQDKARLQR LEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDST RETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKSVEEVASEIQPF LRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPFS GKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDPVTKKKVSYVQLKERCR IEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIG LVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQ IATGGIIDPKESHRLPVDIAYKRGYFNEELSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNTL RKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSGS LSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGI VDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKEKWLPYEAGQRFLEFQY LTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMSS APGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIGH -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for DSG1-DSP |
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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 |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000379802 | 8 | 24 | 1_584 | 380.0 | 2872.0 | plakophilin 1 and junction plakoglobin | |
Tgene | DSP | chr18:28911830 | chr6:7568014 | ENST00000418664 | 8 | 24 | 1_584 | 380.0 | 2273.0 | plakophilin 1 and junction plakoglobin |
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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 DSG1-DSP |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | DSP | P15924 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
Tgene | DSP | P15924 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational |
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Related Diseases for DSG1-DSP |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DSG1 | C3809719 | Severe dermatitis, multiple allergies, metabolic wasting syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | DSG1 | C4707237 | Striate palmoplantar keratoderma | 2 | ORPHANET |
Hgene | DSG1 | C0011603 | Dermatitis | 1 | CTD_human |
Hgene | DSG1 | C0020517 | Hypersensitivity | 1 | CTD_human |
Hgene | DSG1 | C0025517 | Metabolic Diseases | 1 | CTD_human |
Hgene | DSG1 | C1527304 | Allergic Reaction | 1 | CTD_human |
Hgene | DSG1 | C2931122 | Keratosis palmoplantaris striata 1 | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | DSG1 | C4755302 | Focal palmoplantar keratoderma with joint keratoses | 1 | ORPHANET |
Hgene | DSG1 | C4755309 | Diffuse palmoplantar keratoderma with painful fissures | 1 | ORPHANET |
Tgene | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C1864826 | Epidermolysis bullosa, lethal acantholytic | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C1843292 | Skin Fragility-Woolly Hair Syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1852127 | KERATOSIS PALMOPLANTARIS STRIATA II | 5 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human | |
Tgene | C0034069 | Pulmonary Fibrosis | 1 | CTD_human | |
Tgene | C0085298 | Sudden Cardiac Death | 1 | CTD_human | |
Tgene | C0085786 | Hamman-Rich syndrome | 1 | ORPHANET | |
Tgene | C1527303 | Chronic Airflow Obstruction | 1 | CTD_human | |
Tgene | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human | |
Tgene | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET | |
Tgene | C3809719 | Severe dermatitis, multiple allergies, metabolic wasting syndrome | 1 | ORPHANET | |
Tgene | C4707237 | Striate palmoplantar keratoderma | 1 | ORPHANET | |
Tgene | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human | |
Tgene | C4721508 | Hamman-Rich Disease | 1 | CTD_human | |
Tgene | C4721509 | Usual Interstitial Pneumonia | 1 | CTD_human | |
Tgene | C4721952 | Familial Idiopathic Pulmonary Fibrosis | 1 | CTD_human |