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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:DMPK-ERCC1 (FusionGDB2 ID:23254)

Fusion Gene Summary for DMPK-ERCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: DMPK-ERCC1
Fusion gene ID: 23254
HgeneTgene
Gene symbol

DMPK

ERCC1

Gene ID

1760

2067

Gene nameDM1 protein kinaseERCC excision repair 1, endonuclease non-catalytic subunit
SynonymsDM|DM1|DM1PK|DMK|MDPK|MT-PKCOFS4|RAD10|UV20
Cytomap

19q13.32

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionmyotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homologDNA excision repair protein ERCC-1excision repair cross-complementation group 1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Modification date2020032020200329
UniProtAcc

Q09013

P07992

Ensembl transtripts involved in fusion geneENST00000291270, ENST00000343373, 
ENST00000354227, ENST00000447742, 
ENST00000458663, ENST00000595361, 
ENST00000600757, 		ENST00000013807, 
ENST00000300853, ENST00000340192, 
ENST00000423698, ENST00000588738, 
ENST00000589165, ENST00000591636, 
Fusion gene scores* DoF score4 X 5 X 3=6010 X 8 X 5=400
# samples 411
** MAII scorelog2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DMPK [Title/Abstract] AND ERCC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDMPK(46282628)-ERCC1(45971838), # 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
HgeneDMPK

GO:0006468

protein phosphorylation

10913253|11287000

HgeneDMPK

GO:0008016

regulation of heart contraction

15598648

HgeneDMPK

GO:0010657

muscle cell apoptotic process

18729234

TgeneERCC1

GO:0006289

nucleotide-excision repair

3290851


check buttonFusion gene breakpoints across DMPK (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 ERCC1 (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
ChiTaRS5.0N/ABF853752DMPKchr19

46282628

+ERCC1chr19

45971838

-


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Fusion Gene ORF analysis for DMPK-ERCC1

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
intron-intronENST00000291270ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000291270ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000291270ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000291270ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000291270ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000291270ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000291270ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000343373ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000354227ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000447742ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000458663ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000595361ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000013807DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000300853DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000340192DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000423698DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000588738DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000589165DMPKchr19

46282628

+ERCC1chr19

45971838

-
intron-intronENST00000600757ENST00000591636DMPKchr19

46282628

+ERCC1chr19

45971838

-

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 DMPK-ERCC1


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)

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 DMPK-ERCC1


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/:46282628/:45971838)
- 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
DMPK

Q09013

ERCC1

P07992

FUNCTION: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. {ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253, ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}.FUNCTION: [Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4. {ECO:0000269|PubMed:17273966, ECO:0000269|PubMed:23623389, ECO:0000269|PubMed:24036546}.; FUNCTION: [Isoform 2]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 3]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 4]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.

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 DMPK-ERCC1


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 DMPK-ERCC1


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 DMPK-ERCC1


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

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Related Diseases for DMPK-ERCC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource