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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:DSP-KRT13 (FusionGDB2 ID:HG1832TG3860)

Fusion Gene Summary for DSP-KRT13

check button Fusion gene summary
Fusion gene informationFusion gene name: DSP-KRT13
Fusion gene ID: hg1832tg3860
HgeneTgene
Gene symbol

DSP

KRT13

Gene ID

1832

3860

Gene namedesmoplakinkeratin 13
SynonymsDCWHKTA|DPCK13|K13|WSN2
Cytomap('DSP')('KRT13')

6p24.3

17q21.2

Type of geneprotein-codingprotein-coding
Descriptiondesmoplakin250/210 kDa paraneoplastic pemphigus antigenkeratin, type I cytoskeletal 13CK-13cytokeratin 13keratin 13, type I
Modification date2020032720200313
UniProtAcc

P15924

P13646

Ensembl transtripts involved in fusion geneENST00000379802, ENST00000418664, 
Fusion gene scores* DoF score16 X 19 X 11=334419 X 33 X 6=3762
# samples 2224
** MAII scorelog2(22/3344*10)=-3.92599941855622
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/3762*10)=-3.97039353791468
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DSP [Title/Abstract] AND KRT13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDSP(7586550)-KRT13(39661602), # 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
HgeneDSP

GO:0018149

peptide cross-linking

10908733

HgeneDSP

GO:0030216

keratinocyte differentiation

10908733

TgeneKRT13

GO:0007010

cytoskeleton organization

21371075



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-CV-7103-11ADSPchr6

7586550

-KRT13chr17

39661602

-


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Fusion Gene ORF analysis for DSP-KRT13

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
3UTR-3CDSENST00000379802ENST00000246635DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-3CDSENST00000379802ENST00000336861DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-3CDSENST00000379802ENST00000587544DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-3CDSENST00000418664ENST00000246635DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-3CDSENST00000418664ENST00000336861DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-3CDSENST00000418664ENST00000587544DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-intronENST00000379802ENST00000587118DSPchr6

7586550

-KRT13chr17

39661602

-
3UTR-intronENST00000418664ENST00000587118DSPchr6

7586550

-KRT13chr17

39661602

-

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)

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

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Fusion Genomic Features for DSP-KRT13


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)


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Fusion Protein Features for DSP-KRT13


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7586550/:39661602)
- 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.
FGviewer

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

P15924

KRT13

P13646

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DSP-KRT13


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.

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Fusion Gene PPI Analysis for DSP-KRT13


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


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 DSP-KRT13


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDSPP15924DB01593ZincSmall moleculeApproved|Investigational
HgeneDSPP15924DB14487Zinc acetateSmall moleculeApproved|Investigational

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Related Diseases for DSP-KRT13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSPC1843896Arrhythmogenic Right Ventricular Dysplasia, Familial, 88CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDSPC1854063Cardiomyopathy dilated with Woolly hair and keratoderma7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDSPC1864826Epidermolysis bullosa, lethal acantholytic7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDSPC1843292Skin Fragility-Woolly Hair Syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDSPC4014393CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS6CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDSPC1852127KERATOSIS PALMOPLANTARIS STRIATA II5CTD_human;GENOMICS_ENGLAND
HgeneDSPC0024117Chronic Obstructive Airway Disease1CTD_human
HgeneDSPC0034069Pulmonary Fibrosis1CTD_human
HgeneDSPC0085298Sudden Cardiac Death1CTD_human
HgeneDSPC0085786Hamman-Rich syndrome1ORPHANET
HgeneDSPC1527303Chronic Airflow Obstruction1CTD_human
HgeneDSPC1720824Sudden Cardiac Arrest1CTD_human
HgeneDSPC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
HgeneDSPC3809719Severe dermatitis, multiple allergies, metabolic wasting syndrome1ORPHANET
HgeneDSPC4707237Striate palmoplantar keratoderma1ORPHANET
HgeneDSPC4721507Alveolitis, Fibrosing1CTD_human
HgeneDSPC4721508Hamman-Rich Disease1CTD_human
HgeneDSPC4721509Usual Interstitial Pneumonia1CTD_human
HgeneDSPC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human
TgeneC1721005Leukokeratosis, Hereditary Mucosal4CTD_human;ORPHANET
TgeneC4014321WHITE SPONGE NEVUS 24UNIPROT
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human