FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 10596

FusionGeneSummary for DSP_DSP

check button Fusion gene summary
Fusion gene informationFusion gene name: DSP_DSP
Fusion gene ID: 10596
HgeneTgene
Gene symbol

DSP

DSP

Gene ID

1832

1832

Gene namedesmoplakindesmoplakin
SynonymsDCWHKTA|DPDCWHKTA|DP
Cytomap

6p24.3

6p24.3

Type of geneprotein-codingprotein-coding
Descriptiondesmoplakin250/210 kDa paraneoplastic pemphigus antigendesmoplakin250/210 kDa paraneoplastic pemphigus antigen
Modification date2018052320180523
UniProtAcc

P15924

P15924

Ensembl transtripts involved in fusion geneENST00000379802, ENST00000418664, 
ENST00000379802, ENST00000418664, 
Fusion gene scores* DoF score7 X 9 X 6=37817 X 15 X 8=2040
# samples 1122
** MAII scorelog2(11/378*10)=-1.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/2040*10)=-3.2129937233342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneDSP

GO:0018149

peptide cross-linking

10908733

TgeneDSP

GO:0030216

keratinocyte differentiation

10908733


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW391547DSPchr6

7585347

-DSPchr6

7585212

+
ChiTaRS3.1AA847709DSPchr6

7585704

+DSPchr6

7585793

-
ChiTaRS3.1AL598124DSPchr6

7579665

-DSPchr6

7578021

+
ChiTaRS3.1EL594873DSPchr6

7583152

+DSPchr6

7582934

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000379802ENST00000379802DSPchr6

7585347

-DSPchr6

7585212

+
In-frameENST00000379802ENST00000418664DSPchr6

7585347

-DSPchr6

7585212

+
In-frameENST00000418664ENST00000379802DSPchr6

7585347

-DSPchr6

7585212

+
Frame-shiftENST00000418664ENST00000418664DSPchr6

7585347

-DSPchr6

7585212

+
Frame-shiftENST00000379802ENST00000379802DSPchr6

7585704

+DSPchr6

7585793

-
In-frameENST00000379802ENST00000418664DSPchr6

7585704

+DSPchr6

7585793

-
In-frameENST00000418664ENST00000379802DSPchr6

7585704

+DSPchr6

7585793

-
Frame-shiftENST00000418664ENST00000418664DSPchr6

7585704

+DSPchr6

7585793

-
In-frameENST00000379802ENST00000379802DSPchr6

7579665

-DSPchr6

7578021

+
In-frameENST00000379802ENST00000418664DSPchr6

7579665

-DSPchr6

7578021

+
In-frameENST00000418664ENST00000379802DSPchr6

7579665

-DSPchr6

7578021

+
In-frameENST00000418664ENST00000418664DSPchr6

7579665

-DSPchr6

7578021

+
Frame-shiftENST00000379802ENST00000379802DSPchr6

7583152

+DSPchr6

7582934

+
In-frameENST00000379802ENST00000418664DSPchr6

7583152

+DSPchr6

7582934

+
In-frameENST00000418664ENST00000379802DSPchr6

7583152

+DSPchr6

7582934

+
Frame-shiftENST00000418664ENST00000418664DSPchr6

7583152

+DSPchr6

7582934

+

Top

FusionProtFeatures for DSP_DSP


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

P15924

DSP

P15924

Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe anchoring of intermediate filaments to the desmosomes. Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe 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
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0241018_1945-1142872Coiled coilOntology_term=ECO:0000255
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0241018_1945-1002273Coiled coilOntology_term=ECO:0000255
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024458_515-1142872DomainSH3
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024458_515-1002273DomainSH3
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0241057_1945-1142872RegionNote=Central fibrous rod domain
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0241946_2871-1142872RegionNote=Globular 2
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0241960_2208-1142872RegionNote=4.5 X 38 AA tandem repeats (Domain A)
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0241_1056-1142872RegionNote=Globular 1
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242244_2446-1142872RegionNote=4.5 X 38 AA tandem repeats (Domain B)
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242609_2822-1142872RegionNote=4.5 X 38 AA tandem repeats (Domain C)
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242824_2847-1142872RegionNote=6 X 4 AA tandem repeats of G-S-R-[SR]
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0241057_1945-1002273RegionNote=Central fibrous rod domain
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0241946_2871-1002273RegionNote=Globular 2
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0241960_2208-1002273RegionNote=4.5 X 38 AA tandem repeats (Domain A)
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0241_1056-1002273RegionNote=Globular 1
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242244_2446-1002273RegionNote=4.5 X 38 AA tandem repeats (Domain B)
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242609_2822-1002273RegionNote=4.5 X 38 AA tandem repeats (Domain C)
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242824_2847-1002273RegionNote=6 X 4 AA tandem repeats of G-S-R-[SR]
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024178_271-1142872RepeatNote=Spectrin 1
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242009_2045-1142872RepeatNote=Plectin 1
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242046_2083-1142872RepeatNote=Plectin 2
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242084_2121-1142872RepeatNote=Plectin 3
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242122_2159-1142872RepeatNote=Plectin 4
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242163_2197-1142872RepeatNote=Plectin 5
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242198_2233-1142872RepeatNote=Plectin 6
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242251_2288-1142872RepeatNote=Plectin 7
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242289_2326-1142872RepeatNote=Plectin 8
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242327_2364-1142872RepeatNote=Plectin 9
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242365_2402-1142872RepeatNote=Plectin 10
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242406_2440-1142872RepeatNote=Plectin 11
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242456_2493-1142872RepeatNote=Plectin 12
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242507_2544-1142872RepeatNote=Plectin 13
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242610_2647-1142872RepeatNote=Plectin 14
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242648_2685-1142872RepeatNote=Plectin 15
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242724_2761-1142872RepeatNote=Plectin 16
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024272_375-1142872RepeatNote=Spectrin 2
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0242762_2799-1142872RepeatNote=Plectin 17
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024376_446-1142872RepeatNote=Spectrin 3a
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024516_545-1142872RepeatNote=Spectrin 3b
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024546_627-1142872RepeatNote=Spectrin 4
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024654_769-1142872RepeatNote=Spectrin 5
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+024770_883-1142872RepeatNote=Spectrin 6
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024178_271-1002273RepeatNote=Spectrin 1
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242009_2045-1002273RepeatNote=Plectin 1
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242046_2083-1002273RepeatNote=Plectin 2
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242084_2121-1002273RepeatNote=Plectin 3
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242122_2159-1002273RepeatNote=Plectin 4
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242163_2197-1002273RepeatNote=Plectin 5
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242198_2233-1002273RepeatNote=Plectin 6
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242251_2288-1002273RepeatNote=Plectin 7
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242289_2326-1002273RepeatNote=Plectin 8
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242327_2364-1002273RepeatNote=Plectin 9
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242365_2402-1002273RepeatNote=Plectin 10
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242406_2440-1002273RepeatNote=Plectin 11
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242456_2493-1002273RepeatNote=Plectin 12
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242507_2544-1002273RepeatNote=Plectin 13
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242610_2647-1002273RepeatNote=Plectin 14
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242648_2685-1002273RepeatNote=Plectin 15
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242724_2761-1002273RepeatNote=Plectin 16
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024272_375-1002273RepeatNote=Spectrin 2
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0242762_2799-1002273RepeatNote=Plectin 17
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024376_446-1002273RepeatNote=Spectrin 3a
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024516_545-1002273RepeatNote=Spectrin 3b
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024546_627-1002273RepeatNote=Spectrin 4
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024654_769-1002273RepeatNote=Spectrin 5
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+024770_883-1002273RepeatNote=Spectrin 6

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


Top

FusionGeneSequence for DSP_DSP


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for DSP_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
TgeneDSPchr6:7579665chr6:7578021ENST00000379802+0241_584-1142872plakophilin 1 and junction plakoglobin
TgeneDSPchr6:7579665chr6:7578021ENST00000418664+0241_584-1002273plakophilin 1 and junction plakoglobin


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


Top

RelatedDrugs for DSP_DSP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDSPP15924DB01593ZincDesmoplakinsmall moleculeapproved|investigational
HgeneDSPP15924DB11638ArtenimolDesmoplakinsmall moleculeapproved|investigational
TgeneDSPP15924DB01593ZincDesmoplakinsmall moleculeapproved|investigational
TgeneDSPP15924DB11638ArtenimolDesmoplakinsmall moleculeapproved|investigational

Top

RelatedDiseases for DSP_DSP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSPC1843896Arrhythmogenic Right Ventricular Dysplasia, Familial, 83CTD_human;UNIPROT
HgeneDSPC4014393CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS2UNIPROT
HgeneDSPC0085298Sudden Cardiac Death1CTD_human;HPO
HgeneDSPC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
HgeneDSPC1843292Skin Fragility-Woolly Hair Syndrome1CTD_human;ORPHANET;UNIPROT
HgeneDSPC1854063Cardiomyopathy dilated with Woolly hair and keratoderma1CTD_human;ORPHANET
TgeneDSPC1843896Arrhythmogenic Right Ventricular Dysplasia, Familial, 83CTD_human;UNIPROT
TgeneDSPC4014393CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS2UNIPROT
TgeneDSPC0085298Sudden Cardiac Death1CTD_human;HPO
TgeneDSPC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
TgeneDSPC1843292Skin Fragility-Woolly Hair Syndrome1CTD_human;ORPHANET;UNIPROT
TgeneDSPC1854063Cardiomyopathy dilated with Woolly hair and keratoderma1CTD_human;ORPHANET