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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DSG1-DSP (FusionGDB2 ID:24218)

Fusion Gene Summary for DSG1-DSP

check button Fusion gene summary
Fusion gene informationFusion gene name: DSG1-DSP
Fusion gene ID: 24218
HgeneTgene
Gene symbol

DSG1

DSP

Gene ID

1828

1834

Gene namedesmoglein 1dentin sialophosphoprotein
SynonymsCDHF4|DG1|DSG|EPKHE|EPKHIA|PPKS1|SPPK1DFNA39|DGI1|DMP3|DPP|DSP
Cytomap

18q12.1

4q22.1

Type of geneprotein-codingprotein-coding
Descriptiondesmoglein-1cadherin family member 4desmosomal glycoprotein 1pemphigus foliaceus antigendentin sialophosphoproteindeafness, autosomal dominant 39dentin phosphophoryndentin phosphoproteindentin phosphoryndentin sialoprotein
Modification date2020031320200313
UniProtAcc

Q02413

P15924

Ensembl transtripts involved in fusion geneENST00000257192, ENST00000462981, 
ENST00000379802, ENST00000418664, 
Fusion gene scores* DoF score4 X 4 X 3=4822 X 19 X 10=4180
# samples 426
** MAII scorelog2(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 breakpointDSG1(28911830)-DSP(7568014), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDSG1

GO:0050821

protein stabilization

7983064


check buttonFusion gene breakpoints across DSG1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DSP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-CN-4726-01ADSG1chr18

28911830

+DSPchr6

7568014

+


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Fusion Gene ORF analysis for DSG1-DSP

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000257192ENST00000379802DSG1chr18

28911830

+DSPchr6

7568014

+
In-frameENST00000257192ENST00000418664DSG1chr18

28911830

+DSPchr6

7568014

+
intron-3CDSENST00000462981ENST00000379802DSG1chr18

28911830

+DSPchr6

7568014

+
intron-3CDSENST00000462981ENST00000418664DSG1chr18

28911830

+DSPchr6

7568014

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000257192DSG1chr1828911830+ENST00000379802DSPchr67568014+921189621283712719
ENST00000257192DSG1chr1828911830+ENST00000418664DSPchr67568014+726989621265742120

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000257192ENST00000379802DSG1chr1828911830+DSPchr67568014+0.0033348820.99666506
ENST00000257192ENST00000418664DSG1chr1828911830+DSPchr67568014+0.0017682560.9982318

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Fusion Genomic Features for DSG1-DSP


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
DSG1chr1828911830+DSPchr67568013+1.99E-070.99999976
DSG1chr1828911830+DSPchr67568013+1.99E-070.99999976

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for DSG1-DSP


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DSG1

Q02413

DSP

P15924

FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.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.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+61550_158228.01050.0DomainCadherin 1
TgeneDSPchr18:28911830chr6:7568014ENST000003798028241018_1945380.02872.0Coiled coilOntology_term=ECO:0000255
TgeneDSPchr18:28911830chr6:7568014ENST000004186648241018_1945380.02273.0Coiled coilOntology_term=ECO:0000255
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824458_515380.02872.0DomainSH3
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824458_515380.02273.0DomainSH3
TgeneDSPchr18:28911830chr6:7568014ENST000003798028241057_1945380.02872.0RegionNote=Central fibrous rod domain
TgeneDSPchr18:28911830chr6:7568014ENST000003798028241946_2871380.02872.0RegionNote=Globular 2
TgeneDSPchr18:28911830chr6:7568014ENST000003798028241960_2208380.02872.0RegionNote=4.5 X 38 AA tandem repeats (Domain A)
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242244_2446380.02872.0RegionNote=4.5 X 38 AA tandem repeats (Domain B)
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242609_2822380.02872.0RegionNote=4.5 X 38 AA tandem repeats (Domain C)
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242824_2847380.02872.0RegionNote=6 X 4 AA tandem repeats of G-S-R-[SR]
TgeneDSPchr18:28911830chr6:7568014ENST000004186648241057_1945380.02273.0RegionNote=Central fibrous rod domain
TgeneDSPchr18:28911830chr6:7568014ENST000004186648241946_2871380.02273.0RegionNote=Globular 2
TgeneDSPchr18:28911830chr6:7568014ENST000004186648241960_2208380.02273.0RegionNote=4.5 X 38 AA tandem repeats (Domain A)
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242244_2446380.02273.0RegionNote=4.5 X 38 AA tandem repeats (Domain B)
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242609_2822380.02273.0RegionNote=4.5 X 38 AA tandem repeats (Domain C)
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242824_2847380.02273.0RegionNote=6 X 4 AA tandem repeats of G-S-R-[SR]
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242009_2045380.02872.0RepeatNote=Plectin 1
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242046_2083380.02872.0RepeatNote=Plectin 2
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242084_2121380.02872.0RepeatNote=Plectin 3
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242122_2159380.02872.0RepeatNote=Plectin 4
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242163_2197380.02872.0RepeatNote=Plectin 5
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242198_2233380.02872.0RepeatNote=Plectin 6
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242251_2288380.02872.0RepeatNote=Plectin 7
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242289_2326380.02872.0RepeatNote=Plectin 8
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242327_2364380.02872.0RepeatNote=Plectin 9
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242365_2402380.02872.0RepeatNote=Plectin 10
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242406_2440380.02872.0RepeatNote=Plectin 11
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242456_2493380.02872.0RepeatNote=Plectin 12
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242507_2544380.02872.0RepeatNote=Plectin 13
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242610_2647380.02872.0RepeatNote=Plectin 14
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242648_2685380.02872.0RepeatNote=Plectin 15
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242724_2761380.02872.0RepeatNote=Plectin 16
TgeneDSPchr18:28911830chr6:7568014ENST000003798028242762_2799380.02872.0RepeatNote=Plectin 17
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824516_545380.02872.0RepeatNote=Spectrin 3b
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824546_627380.02872.0RepeatNote=Spectrin 4
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824654_769380.02872.0RepeatNote=Spectrin 5
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824770_883380.02872.0RepeatNote=Spectrin 6
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242009_2045380.02273.0RepeatNote=Plectin 1
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242046_2083380.02273.0RepeatNote=Plectin 2
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242084_2121380.02273.0RepeatNote=Plectin 3
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242122_2159380.02273.0RepeatNote=Plectin 4
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242163_2197380.02273.0RepeatNote=Plectin 5
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242198_2233380.02273.0RepeatNote=Plectin 6
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242251_2288380.02273.0RepeatNote=Plectin 7
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242289_2326380.02273.0RepeatNote=Plectin 8
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242327_2364380.02273.0RepeatNote=Plectin 9
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242365_2402380.02273.0RepeatNote=Plectin 10
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242406_2440380.02273.0RepeatNote=Plectin 11
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242456_2493380.02273.0RepeatNote=Plectin 12
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242507_2544380.02273.0RepeatNote=Plectin 13
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242610_2647380.02273.0RepeatNote=Plectin 14
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242648_2685380.02273.0RepeatNote=Plectin 15
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242724_2761380.02273.0RepeatNote=Plectin 16
TgeneDSPchr18:28911830chr6:7568014ENST000004186648242762_2799380.02273.0RepeatNote=Plectin 17
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824516_545380.02273.0RepeatNote=Spectrin 3b
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824546_627380.02273.0RepeatNote=Spectrin 4
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824654_769380.02273.0RepeatNote=Spectrin 5
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824770_883380.02273.0RepeatNote=Spectrin 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615969_1019228.01050.0Compositional biasNote=Gly/Ser-rich
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615159_270228.01050.0DomainCadherin 2
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615271_385228.01050.0DomainCadherin 3
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615386_497228.01050.0DomainCadherin 4
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615813_839228.01050.0RepeatNote=Desmoglein repeat 1
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615840_869228.01050.0RepeatNote=Desmoglein repeat 2
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615870_899228.01050.0RepeatNote=Desmoglein repeat 3
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615900_927228.01050.0RepeatNote=Desmoglein repeat 4
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615928_956228.01050.0RepeatNote=Desmoglein repeat 5
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+61550_548228.01050.0Topological domainExtracellular
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615570_1049228.01050.0Topological domainCytoplasmic
HgeneDSG1chr18:28911830chr6:7568014ENST00000257192+615549_569228.01050.0TransmembraneHelical
TgeneDSPchr18:28911830chr6:7568014ENST000003798028241_1056380.02872.0RegionNote=Globular 1
TgeneDSPchr18:28911830chr6:7568014ENST000004186648241_1056380.02273.0RegionNote=Globular 1
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824178_271380.02872.0RepeatNote=Spectrin 1
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824272_375380.02872.0RepeatNote=Spectrin 2
TgeneDSPchr18:28911830chr6:7568014ENST00000379802824376_446380.02872.0RepeatNote=Spectrin 3a
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824178_271380.02273.0RepeatNote=Spectrin 1
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824272_375380.02273.0RepeatNote=Spectrin 2
TgeneDSPchr18:28911830chr6:7568014ENST00000418664824376_446380.02273.0RepeatNote=Spectrin 3a


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Fusion Gene Sequence for DSG1-DSP


check button 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.
>In-frame_ENST00000257192_ENST00000379802_TCGA-CN-4726-01A_DSG1_chr18_28911830_+_DSP_chr6_7568014_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

>In-frame_ENST00000257192_ENST00000379802_TCGA-CN-4726-01A_DSG1_chr18_28911830_+_DSP_chr6_7568014_length(amino acids)=2719AA_start in transcript=212_stop in transcript=8371
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

--------------------------------------------------------------
>In-frame_ENST00000257192_ENST00000418664_TCGA-CN-4726-01A_DSG1_chr18_28911830_+_DSP_chr6_7568014_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

>In-frame_ENST00000257192_ENST00000418664_TCGA-CN-4726-01A_DSG1_chr18_28911830_+_DSP_chr6_7568014_length(amino acids)=2120AA_start in transcript=212_stop in transcript=6574
MDWSFFRVVAMLFIFLVVVEVNSEFRIQVRDYNTKNGTIKWHSIRRQKREWIKFAAACREGEDNSKRNPIAKIHSDCAANQQVTYRISGV
GIDQPPYGIFVINQKTGEINITSIVDREVTPFFIIYCRALNSMGQDLERPLELRVRVLDINDNPPVFSMATFAGQIEENSNANTLVMILN
ATDADEPNNLNSKIAFKIIRQEPSDSPMFIINRNTGEIRTMNNFLDREFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKELE
KEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNERSKWYVTGPGGVDMLVPSVGLII
PPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMFGD
DDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLP
LADQGSSHHITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQTED
MLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHSQTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDK
QIDFRLWDLEKQIKQLRNYRDNYQAFCKWLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYE
LQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSENC
NKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYDQL
QKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKASNRIQESKNQCTQVVQERESLLVKIKVLEQDKARLQR
LEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDST
RETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKSVEEVASEIQPF
LRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPFS
GKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDPVTKKKVSYVQLKERCR
IEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIG
LVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQ
IATGGIIDPKESHRLPVDIAYKRGYFNEELSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNTL
RKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSGS
LSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGI
VDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKEKWLPYEAGQRFLEFQY
LTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMSS

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Fusion Gene PPI Analysis for DSG1-DSP


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneDSPchr18:28911830chr6:7568014ENST000003798028241_584380.02872.0plakophilin 1 and junction plakoglobin
TgeneDSPchr18:28911830chr6:7568014ENST000004186648241_584380.02273.0plakophilin 1 and junction plakoglobin


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DSG1-DSP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDSPP15924DB01593ZincSmall moleculeApproved|Investigational
TgeneDSPP15924DB14487Zinc acetateSmall moleculeApproved|Investigational

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Related Diseases for DSG1-DSP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSG1C3809719Severe dermatitis, multiple allergies, metabolic wasting syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDSG1C4707237Striate palmoplantar keratoderma2ORPHANET
HgeneDSG1C0011603Dermatitis1CTD_human
HgeneDSG1C0020517Hypersensitivity1CTD_human
HgeneDSG1C0025517Metabolic Diseases1CTD_human
HgeneDSG1C1527304Allergic Reaction1CTD_human
HgeneDSG1C2931122Keratosis palmoplantaris striata 11CTD_human;GENOMICS_ENGLAND
HgeneDSG1C4755302Focal palmoplantar keratoderma with joint keratoses1ORPHANET
HgeneDSG1C4755309Diffuse palmoplantar keratoderma with painful fissures1ORPHANET
TgeneDSPC1843896Arrhythmogenic Right Ventricular Dysplasia, Familial, 88CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneDSPC1854063Cardiomyopathy dilated with Woolly hair and keratoderma7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneDSPC1864826Epidermolysis bullosa, lethal acantholytic7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneDSPC1843292Skin Fragility-Woolly Hair Syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneDSPC4014393CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneDSPC1852127KERATOSIS PALMOPLANTARIS STRIATA II5CTD_human;GENOMICS_ENGLAND
TgeneDSPC0024117Chronic Obstructive Airway Disease1CTD_human
TgeneDSPC0034069Pulmonary Fibrosis1CTD_human
TgeneDSPC0085298Sudden Cardiac Death1CTD_human
TgeneDSPC0085786Hamman-Rich syndrome1ORPHANET
TgeneDSPC1527303Chronic Airflow Obstruction1CTD_human
TgeneDSPC1720824Sudden Cardiac Arrest1CTD_human
TgeneDSPC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
TgeneDSPC3809719Severe dermatitis, multiple allergies, metabolic wasting syndrome1ORPHANET
TgeneDSPC4707237Striate palmoplantar keratoderma1ORPHANET
TgeneDSPC4721507Alveolitis, Fibrosing1CTD_human
TgeneDSPC4721508Hamman-Rich Disease1CTD_human
TgeneDSPC4721509Usual Interstitial Pneumonia1CTD_human
TgeneDSPC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human