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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:DGKI-CSMD3 (FusionGDB2 ID:22469)

Fusion Gene Summary for DGKI-CSMD3

check button Fusion gene summary
Fusion gene informationFusion gene name: DGKI-CSMD3
Fusion gene ID: 22469
HgeneTgene
Gene symbol

DGKI

CSMD3

Gene ID

9162

114788

Gene namediacylglycerol kinase iotaCUB and Sushi multiple domains 3
SynonymsDGK-IOTA-
Cytomap

7q33

8q23.3

Type of geneprotein-codingprotein-coding
Descriptiondiacylglycerol kinase iotaDAG kinase iotadiglyceride kinase iotaCUB and sushi domain-containing protein 3CUB and sushi multiple domains protein 3
Modification date2020031320200313
UniProtAcc.

Q7Z407

Ensembl transtripts involved in fusion geneENST00000453654, ENST00000288490, 
ENST00000424189, ENST00000446122, 
ENST00000494390, 		ENST00000343508, 
ENST00000297405, ENST00000455883, 
ENST00000352409, ENST00000519485, 
Fusion gene scores* DoF score4 X 5 X 2=407 X 7 X 5=245
# samples 58
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DGKI [Title/Abstract] AND CSMD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGKI(137531208)-CSMD3(113421261), # samples:1
DGKI(137531207)-CSMD3(113418956), # samples:1
Anticipated loss of major functional domain due to fusion event.DGKI-CSMD3 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DGKI-CSMD3 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
DGKI-CSMD3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneDGKI

GO:0046834

lipid phosphorylation

9830018


check buttonFusion gene breakpoints across DGKI (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 CSMD3 (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
ChimerDB4LGGTCGA-DU-7015-01ADGKIchr7

137531208

-CSMD3chr8

113421261

-
ChimerDB4LGGTCGA-DU-7015DGKIchr7

137531207

-CSMD3chr8

113418956

-


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Fusion Gene ORF analysis for DGKI-CSMD3

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
5UTR-3CDSENST00000453654ENST00000343508DGKIchr7

137531208

-CSMD3chr8

113421261

-
5UTR-3CDSENST00000453654ENST00000297405DGKIchr7

137531208

-CSMD3chr8

113421261

-
5UTR-3CDSENST00000453654ENST00000455883DGKIchr7

137531208

-CSMD3chr8

113421261

-
5UTR-intronENST00000453654ENST00000352409DGKIchr7

137531208

-CSMD3chr8

113421261

-
5UTR-intronENST00000453654ENST00000519485DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000288490ENST00000343508DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000288490ENST00000297405DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000288490ENST00000455883DGKIchr7

137531208

-CSMD3chr8

113421261

-
5CDS-intronENST00000288490ENST00000352409DGKIchr7

137531208

-CSMD3chr8

113421261

-
5CDS-intronENST00000288490ENST00000519485DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000424189ENST00000343508DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000424189ENST00000297405DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000424189ENST00000455883DGKIchr7

137531208

-CSMD3chr8

113421261

-
5CDS-intronENST00000424189ENST00000352409DGKIchr7

137531208

-CSMD3chr8

113421261

-
5CDS-intronENST00000424189ENST00000519485DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000446122ENST00000343508DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000446122ENST00000297405DGKIchr7

137531208

-CSMD3chr8

113421261

-
Frame-shiftENST00000446122ENST00000455883DGKIchr7

137531208

-CSMD3chr8

113421261

-
5CDS-intronENST00000446122ENST00000352409DGKIchr7

137531208

-CSMD3chr8

113421261

-
5CDS-intronENST00000446122ENST00000519485DGKIchr7

137531208

-CSMD3chr8

113421261

-
intron-3CDSENST00000494390ENST00000343508DGKIchr7

137531208

-CSMD3chr8

113421261

-
intron-3CDSENST00000494390ENST00000297405DGKIchr7

137531208

-CSMD3chr8

113421261

-
intron-3CDSENST00000494390ENST00000455883DGKIchr7

137531208

-CSMD3chr8

113421261

-
intron-intronENST00000494390ENST00000352409DGKIchr7

137531208

-CSMD3chr8

113421261

-
intron-intronENST00000494390ENST00000519485DGKIchr7

137531208

-CSMD3chr8

113421261

-
5UTR-3CDSENST00000453654ENST00000343508DGKIchr7

137531207

-CSMD3chr8

113418956

-
5UTR-3CDSENST00000453654ENST00000297405DGKIchr7

137531207

-CSMD3chr8

113418956

-
5UTR-3CDSENST00000453654ENST00000455883DGKIchr7

137531207

-CSMD3chr8

113418956

-
5UTR-3CDSENST00000453654ENST00000352409DGKIchr7

137531207

-CSMD3chr8

113418956

-
5UTR-intronENST00000453654ENST00000519485DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000288490ENST00000343508DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000288490ENST00000297405DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000288490ENST00000455883DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000288490ENST00000352409DGKIchr7

137531207

-CSMD3chr8

113418956

-
5CDS-intronENST00000288490ENST00000519485DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000424189ENST00000343508DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000424189ENST00000297405DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000424189ENST00000455883DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000424189ENST00000352409DGKIchr7

137531207

-CSMD3chr8

113418956

-
5CDS-intronENST00000424189ENST00000519485DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000446122ENST00000343508DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000446122ENST00000297405DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000446122ENST00000455883DGKIchr7

137531207

-CSMD3chr8

113418956

-
Frame-shiftENST00000446122ENST00000352409DGKIchr7

137531207

-CSMD3chr8

113418956

-
5CDS-intronENST00000446122ENST00000519485DGKIchr7

137531207

-CSMD3chr8

113418956

-
intron-3CDSENST00000494390ENST00000343508DGKIchr7

137531207

-CSMD3chr8

113418956

-
intron-3CDSENST00000494390ENST00000297405DGKIchr7

137531207

-CSMD3chr8

113418956

-
intron-3CDSENST00000494390ENST00000455883DGKIchr7

137531207

-CSMD3chr8

113418956

-
intron-3CDSENST00000494390ENST00000352409DGKIchr7

137531207

-CSMD3chr8

113418956

-
intron-intronENST00000494390ENST00000519485DGKIchr7

137531207

-CSMD3chr8

113418956

-

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 DGKI-CSMD3


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 DGKI-CSMD3


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.CSMD3

Q7Z407

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Involved in dendrite development. {ECO:0000250|UniProtKB:Q80T79}.

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 DGKI-CSMD3


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 DGKI-CSMD3


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 DGKI-CSMD3


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 DGKI-CSMD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCSMD3C0007134Renal Cell Carcinoma2CTD_human
TgeneCSMD3C0279702Conventional (Clear Cell) Renal Cell Carcinoma2CTD_human
TgeneCSMD3C1266042Chromophobe Renal Cell Carcinoma2CTD_human
TgeneCSMD3C1266043Sarcomatoid Renal Cell Carcinoma2CTD_human
TgeneCSMD3C1266044Collecting Duct Carcinoma of the Kidney2CTD_human
TgeneCSMD3C1306837Papillary Renal Cell Carcinoma2CTD_human
TgeneCSMD3C0004352Autistic Disorder1CTD_human
TgeneCSMD3C0013146Drug abuse1CTD_human
TgeneCSMD3C0013170Drug habituation1CTD_human
TgeneCSMD3C0013222Drug Use Disorders1CTD_human
TgeneCSMD3C0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneCSMD3C0038580Substance Dependence1CTD_human
TgeneCSMD3C0038586Substance Use Disorders1CTD_human
TgeneCSMD3C0236969Substance-Related Disorders1CTD_human
TgeneCSMD3C0740858Substance abuse problem1CTD_human
TgeneCSMD3C1510472Drug Dependence1CTD_human
TgeneCSMD3C4316881Prescription Drug Abuse1CTD_human