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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:DEGS1-DMPK (FusionGDB2 ID:22167)

Fusion Gene Summary for DEGS1-DMPK

check button Fusion gene summary
Fusion gene informationFusion gene name: DEGS1-DMPK
Fusion gene ID: 22167
HgeneTgene
Gene symbol

DEGS1

DMPK

Gene ID

8560

1760

Gene namedelta 4-desaturase, sphingolipid 1DM1 protein kinase
SynonymsDEGS|DEGS-1|DES1|Des-1|FADS7|HLD18|MIG15|MLDDM|DM1|DM1PK|DMK|MDPK|MT-PK
Cytomap

1q42.11

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionsphingolipid delta(4)-desaturase DES1cell migration-inducing gene 15 proteindegenerative spermatocyte homolog 1, lipid desaturasedegenerative spermatocyte homolog, lipid desaturasedihydroceramide desaturase 1membrane fatty acid (lipid) desaturasememmyotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog
Modification date2020031320200320
UniProtAcc

O15121

Q09013

Ensembl transtripts involved in fusion geneENST00000465848, ENST00000323699, 
ENST00000391877, 		ENST00000343373, 
ENST00000600757, ENST00000291270, 
ENST00000354227, ENST00000447742, 
ENST00000458663, ENST00000595361, 
Fusion gene scores* DoF score5 X 5 X 2=504 X 4 X 2=32
# samples 54
** MAII scorelog2(5/50*10)=0log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DEGS1 [Title/Abstract] AND DMPK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDEGS1(224377512)-DMPK(46283369), # 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
TgeneDMPK

GO:0006468

protein phosphorylation

10913253|11287000

TgeneDMPK

GO:0008016

regulation of heart contraction

15598648

TgeneDMPK

GO:0010657

muscle cell apoptotic process

18729234


check buttonFusion gene breakpoints across DEGS1 (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 DMPK (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/ABF944194DEGS1chr1

224377512

-DMPKchr19

46283369

+


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Fusion Gene ORF analysis for DEGS1-DMPK

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-5UTRENST00000465848ENST00000343373DEGS1chr1

224377512

-DMPKchr19

46283369

+
3UTR-5UTRENST00000465848ENST00000600757DEGS1chr1

224377512

-DMPKchr19

46283369

+
3UTR-intronENST00000465848ENST00000291270DEGS1chr1

224377512

-DMPKchr19

46283369

+
3UTR-intronENST00000465848ENST00000354227DEGS1chr1

224377512

-DMPKchr19

46283369

+
3UTR-intronENST00000465848ENST00000447742DEGS1chr1

224377512

-DMPKchr19

46283369

+
3UTR-intronENST00000465848ENST00000458663DEGS1chr1

224377512

-DMPKchr19

46283369

+
3UTR-intronENST00000465848ENST00000595361DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-5UTRENST00000323699ENST00000343373DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-5UTRENST00000323699ENST00000600757DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-5UTRENST00000391877ENST00000343373DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-5UTRENST00000391877ENST00000600757DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000323699ENST00000291270DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000323699ENST00000354227DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000323699ENST00000447742DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000323699ENST00000458663DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000323699ENST00000595361DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000391877ENST00000291270DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000391877ENST00000354227DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000391877ENST00000447742DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000391877ENST00000458663DEGS1chr1

224377512

-DMPKchr19

46283369

+
5CDS-intronENST00000391877ENST00000595361DEGS1chr1

224377512

-DMPKchr19

46283369

+

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 DEGS1-DMPK


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 DEGS1-DMPK


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/:224377512/:46283369)
- 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
DEGS1

O15121

DMPK

Q09013

FUNCTION: Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity). {ECO:0000250|UniProtKB:Q5F3C1, ECO:0000269|PubMed:11937514, ECO:0000269|PubMed:30620337, ECO:0000269|PubMed:30620338}.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}.

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 DEGS1-DMPK


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 DEGS1-DMPK


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 DEGS1-DMPK


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 DEGS1-DMPK


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