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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:DGKD-SAG (FusionGDB2 ID:HG8527TG6295)

Fusion Gene Summary for DGKD-SAG

check button Fusion gene summary
Fusion gene informationFusion gene name: DGKD-SAG
Fusion gene ID: hg8527tg6295
HgeneTgene
Gene symbol

DGKD

SAG

Gene ID

8527

6295

Gene namediacylglycerol kinase deltaS-antigen visual arrestin
SynonymsDGK-delta|DGKdelta|dgkd-2RP47|S-AG
Cytomap('DGKD')('SAG')

2q37.1

2q37.1

Type of geneprotein-codingprotein-coding
Descriptiondiacylglycerol kinase deltaDAG kinase deltadiacylglycerol kinase, delta 130kDadiglyceride kinase deltaS-arrestin48 kDa proteinS-antigen; retina and pineal gland (arrestin)arrestin 1retinal S-antigen (48 KDa protein)rod arrestinrod photoreceptor arrestin
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000264057, ENST00000409813, 
ENST00000489613, 
Fusion gene scores* DoF score21 X 6 X 10=12602 X 7 X 4=56
# samples 236
** MAII scorelog2(23/1260*10)=-2.4537179674429
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/56*10)=0.0995356735509144
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DGKD [Title/Abstract] AND SAG [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGKD(234299129)-SAG(234243607), # samples:2
DGKD(234299129)-SAG(234217808), # samples:2
Anticipated loss of major functional domain due to fusion event.DGKD-SAG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-SAG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-SAG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-SAG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DGKD-SAG seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DGKD-SAG seems lost the major protein functional domain in Hgene 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
HgeneDGKD

GO:0010033

response to organic substance

12200442


check buttonFusion gene breakpoints across DGKD (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SAG (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4ACCTCGA-OR-A5JY-01ADGKDchr2

234263320

-SAGchr2

234255453

+
ChimerDB4ESCATCGA-L5-A8NI-01ADGKDchr2

234299129

-SAGchr2

234243608

+
ChimerDB4ESCATCGA-L5-A8NIDGKDchr2

234299129

+SAGchr2

234243607

+
ChimerDB4LUADTCGA-91-8499-01ADGKDchr2

234299129

-SAGchr2

234217808

+
ChimerDB4LUADTCGA-91-8499-01ADGKDchr2

234299129

+SAGchr2

234217808

+
ChimerDB4LUADTCGA-91-8499-01ADGKDchr2

234299129

+SAGchr2

234224721

+
ChimerDB4LUADTCGA-91-8499DGKDchr2

234299129

+SAGchr2

234217807

+


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Fusion Gene ORF analysis for DGKD-SAG

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
5CDS-5UTRENST00000264057ENST00000409110DGKDchr2

234299129

+SAGchr2

234217808

+
5CDS-5UTRENST00000264057ENST00000409110DGKDchr2

234299129

+SAGchr2

234217807

+
5CDS-5UTRENST00000409813ENST00000409110DGKDchr2

234299129

+SAGchr2

234217808

+
5CDS-5UTRENST00000409813ENST00000409110DGKDchr2

234299129

+SAGchr2

234217807

+
5CDS-intronENST00000264057ENST00000449594DGKDchr2

234263320

-SAGchr2

234255453

+
5CDS-intronENST00000264057ENST00000449594DGKDchr2

234299129

-SAGchr2

234243608

+
5CDS-intronENST00000264057ENST00000449594DGKDchr2

234299129

+SAGchr2

234243607

+
5CDS-intronENST00000264057ENST00000449594DGKDchr2

234299129

+SAGchr2

234217808

+
5CDS-intronENST00000264057ENST00000449594DGKDchr2

234299129

+SAGchr2

234224721

+
5CDS-intronENST00000264057ENST00000449594DGKDchr2

234299129

+SAGchr2

234217807

+
5CDS-intronENST00000264057ENST00000461532DGKDchr2

234263320

-SAGchr2

234255453

+
5CDS-intronENST00000264057ENST00000461532DGKDchr2

234299129

-SAGchr2

234243608

+
5CDS-intronENST00000264057ENST00000461532DGKDchr2

234299129

+SAGchr2

234243607

+
5CDS-intronENST00000264057ENST00000461532DGKDchr2

234299129

+SAGchr2

234217808

+
5CDS-intronENST00000264057ENST00000461532DGKDchr2

234299129

+SAGchr2

234224721

+
5CDS-intronENST00000264057ENST00000461532DGKDchr2

234299129

+SAGchr2

234217807

+
5CDS-intronENST00000409813ENST00000449594DGKDchr2

234299129

-SAGchr2

234243608

+
5CDS-intronENST00000409813ENST00000449594DGKDchr2

234299129

+SAGchr2

234243607

+
5CDS-intronENST00000409813ENST00000449594DGKDchr2

234299129

+SAGchr2

234217808

+
5CDS-intronENST00000409813ENST00000449594DGKDchr2

234299129

+SAGchr2

234224721

+
5CDS-intronENST00000409813ENST00000449594DGKDchr2

234299129

+SAGchr2

234217807

+
5CDS-intronENST00000409813ENST00000461532DGKDchr2

234299129

-SAGchr2

234243608

+
5CDS-intronENST00000409813ENST00000461532DGKDchr2

234299129

+SAGchr2

234243607

+
5CDS-intronENST00000409813ENST00000461532DGKDchr2

234299129

+SAGchr2

234217808

+
5CDS-intronENST00000409813ENST00000461532DGKDchr2

234299129

+SAGchr2

234224721

+
5CDS-intronENST00000409813ENST00000461532DGKDchr2

234299129

+SAGchr2

234217807

+
Frame-shiftENST00000264057ENST00000409110DGKDchr2

234263320

-SAGchr2

234255453

+
Frame-shiftENST00000264057ENST00000409110DGKDchr2

234299129

-SAGchr2

234243608

+
Frame-shiftENST00000264057ENST00000409110DGKDchr2

234299129

+SAGchr2

234243607

+
Frame-shiftENST00000409813ENST00000409110DGKDchr2

234299129

-SAGchr2

234243608

+
Frame-shiftENST00000409813ENST00000409110DGKDchr2

234299129

+SAGchr2

234243607

+
In-frameENST00000264057ENST00000409110DGKDchr2

234299129

+SAGchr2

234224721

+
In-frameENST00000409813ENST00000409110DGKDchr2

234299129

+SAGchr2

234224721

+
intron-3CDSENST00000409813ENST00000409110DGKDchr2

234263320

-SAGchr2

234255453

+
intron-3CDSENST00000489613ENST00000409110DGKDchr2

234263320

-SAGchr2

234255453

+
intron-3CDSENST00000489613ENST00000409110DGKDchr2

234299129

-SAGchr2

234243608

+
intron-3CDSENST00000489613ENST00000409110DGKDchr2

234299129

+SAGchr2

234243607

+
intron-3CDSENST00000489613ENST00000409110DGKDchr2

234299129

+SAGchr2

234224721

+
intron-5UTRENST00000489613ENST00000409110DGKDchr2

234299129

+SAGchr2

234217808

+
intron-5UTRENST00000489613ENST00000409110DGKDchr2

234299129

+SAGchr2

234217807

+
intron-intronENST00000409813ENST00000449594DGKDchr2

234263320

-SAGchr2

234255453

+
intron-intronENST00000409813ENST00000461532DGKDchr2

234263320

-SAGchr2

234255453

+
intron-intronENST00000489613ENST00000449594DGKDchr2

234263320

-SAGchr2

234255453

+
intron-intronENST00000489613ENST00000449594DGKDchr2

234299129

-SAGchr2

234243608

+
intron-intronENST00000489613ENST00000449594DGKDchr2

234299129

+SAGchr2

234243607

+
intron-intronENST00000489613ENST00000449594DGKDchr2

234299129

+SAGchr2

234217808

+
intron-intronENST00000489613ENST00000449594DGKDchr2

234299129

+SAGchr2

234224721

+
intron-intronENST00000489613ENST00000449594DGKDchr2

234299129

+SAGchr2

234217807

+
intron-intronENST00000489613ENST00000461532DGKDchr2

234263320

-SAGchr2

234255453

+
intron-intronENST00000489613ENST00000461532DGKDchr2

234299129

-SAGchr2

234243608

+
intron-intronENST00000489613ENST00000461532DGKDchr2

234299129

+SAGchr2

234243607

+
intron-intronENST00000489613ENST00000461532DGKDchr2

234299129

+SAGchr2

234217808

+
intron-intronENST00000489613ENST00000461532DGKDchr2

234299129

+SAGchr2

234224721

+
intron-intronENST00000489613ENST00000461532DGKDchr2

234299129

+SAGchr2

234217807

+

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 DGKD-SAG


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)
DGKDchr2234299129+SAGchr2234243607+6.15E-131
DGKDchr2234299129+SAGchr2234217807+1.53E-101
DGKDchr2234299129+SAGchr2234217807+1.53E-101
DGKDchr2234299129+SAGchr2234224720+2.02E-121
DGKDchr2234299129+SAGchr2234243607+6.15E-131
DGKDchr2234299129+SAGchr2234217807+1.53E-101
DGKDchr2234299129+SAGchr2234217807+1.53E-101
DGKDchr2234299129+SAGchr2234224720+2.02E-121

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for DGKD-SAG


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/chr2:234299129/chr2:234243607)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneDGKDchr2:234299129chr2:234224721ENST00000264057+3308_361161215.0Compositional biasNote=Pro-rich
HgeneDGKDchr2:234299129chr2:234224721ENST00000409813+2298_36721171.0Compositional biasNote=Pro-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDGKDchr2:234299129chr2:234224721ENST00000264057+3301145_12081161215.0DomainSAM
HgeneDGKDchr2:234299129chr2:234224721ENST00000264057+330317_4511161215.0DomainDAGKc
HgeneDGKDchr2:234299129chr2:234224721ENST00000264057+33053_1461161215.0DomainPH
HgeneDGKDchr2:234299129chr2:234224721ENST00000409813+2291145_1208721171.0DomainSAM
HgeneDGKDchr2:234299129chr2:234224721ENST00000409813+229317_451721171.0DomainDAGKc
HgeneDGKDchr2:234299129chr2:234224721ENST00000409813+22953_146721171.0DomainPH
HgeneDGKDchr2:234299129chr2:234224721ENST00000264057+330163_2131161215.0Zinc fingerPhorbol-ester/DAG-type 1
HgeneDGKDchr2:234299129chr2:234224721ENST00000264057+330235_2861161215.0Zinc fingerPhorbol-ester/DAG-type 2
HgeneDGKDchr2:234299129chr2:234224721ENST00000409813+229163_213721171.0Zinc fingerPhorbol-ester/DAG-type 1
HgeneDGKDchr2:234299129chr2:234224721ENST00000409813+229235_286721171.0Zinc fingerPhorbol-ester/DAG-type 2


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Fusion Gene Sequence for DGKD-SAG


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 DGKD-SAG


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 DGKD-SAG


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 DGKD-SAG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGKDC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC1306122Oguchi disease4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0339535Night blindness, congenital stationary2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC4551824Oguchi Disease 12CTD_human;GENOMICS_ENGLAND
TgeneC0035334Retinitis Pigmentosa1CTD_human;GENOMICS_ENGLAND
TgeneC0042164Uveitis1CTD_human
TgeneC1848172NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A1CTD_human
TgeneC1850362NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B1CTD_human
TgeneC1864877NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)1CTD_human
TgeneC3495587Night Blindness, Congenital Stationary, Type 1A1CTD_human
TgeneC3501847Night blindness, congenital stationary, type 11CTD_human
TgeneC3711543X-Linked Csnb1CTD_human
TgeneC4041558Cone-rod synaptic disorder, congenital nonprogressive1CTD_human