Fusion Gene Studies
in Kim Lab

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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:CS-DGKD (FusionGDB2 ID:HG1431TG8527)

Fusion Gene Summary for CS-DGKD

check button Fusion gene summary
Fusion gene informationFusion gene name: CS-DGKD
Fusion gene ID: hg1431tg8527
HgeneTgene
Gene symbol

CS

DGKD

Gene ID

1431

8527

Gene namecitrate synthasediacylglycerol kinase delta
Synonyms-DGK-delta|DGKdelta|dgkd-2
Cytomap('CS')('DGKD')

12q13.3

2q37.1

Type of geneprotein-codingprotein-coding
Descriptioncitrate synthase, mitochondrialcitrate (Si)-synthasediacylglycerol kinase deltaDAG kinase deltadiacylglycerol kinase, delta 130kDadiglyceride kinase delta
Modification date2020031320200313
UniProtAcc

O75390

.
Ensembl transtripts involved in fusion geneENST00000351328, ENST00000542324, 
ENST00000548567, 
Fusion gene scores* DoF score4 X 4 X 3=483 X 3 X 3=27
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Most frequent breakpointCS(56693944)-DGKD(234343026), # samples:3
Anticipated loss of major functional domain due to fusion event.CS-DGKD 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.
CS-DGKD 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.
CS-DGKD 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.
CS-DGKD 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.
* 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
HgeneCS

GO:0005975

carbohydrate metabolic process

9543345

TgeneDGKD

GO:0010033

response to organic substance

12200442


check buttonFusion gene breakpoints across CS (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 DGKD (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
* 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
ChimerDB4LIHCTCGA-ZS-A9CF-01ACSchr12

56693944

-DGKDchr2

234343026

+
ChimerDB4LIHCTCGA-ZS-A9CF-02ACSchr12

56693944

-DGKDchr2

234343026

+


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Fusion Gene ORF analysis for CS-DGKD

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-intronENST00000351328ENST00000489613CSchr12

56693944

-DGKDchr2

234343026

+
5UTR-3CDSENST00000542324ENST00000264057CSchr12

56693944

-DGKDchr2

234343026

+
5UTR-3CDSENST00000542324ENST00000409813CSchr12

56693944

-DGKDchr2

234343026

+
5UTR-3CDSENST00000548567ENST00000264057CSchr12

56693944

-DGKDchr2

234343026

+
5UTR-3CDSENST00000548567ENST00000409813CSchr12

56693944

-DGKDchr2

234343026

+
5UTR-intronENST00000542324ENST00000489613CSchr12

56693944

-DGKDchr2

234343026

+
5UTR-intronENST00000548567ENST00000489613CSchr12

56693944

-DGKDchr2

234343026

+
In-frameENST00000351328ENST00000264057CSchr12

56693944

-DGKDchr2

234343026

+
In-frameENST00000351328ENST00000409813CSchr12

56693944

-DGKDchr2

234343026

+

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)
ENST00000351328CSchr1256693944-ENST00000264057DGKDchr2234343026+61702331735291170
ENST00000351328CSchr1256693944-ENST00000409813DGKDchr2234343026+61662331735291170

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
ENST00000351328ENST00000264057CSchr1256693944-DGKDchr2234343026+0.0014117990.99858814
ENST00000351328ENST00000409813CSchr1256693944-DGKDchr2234343026+0.0014120.998588

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Fusion Genomic Features for CS-DGKD


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)
CSchr1256693943-DGKDchr2234343025+8.94E-091
CSchr1256693943-DGKDchr2234343025+8.94E-091
CSchr1256693943-DGKDchr2234343025+8.94E-091
CSchr1256693943-DGKDchr2234343025+8.94E-091

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 CS-DGKD


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/chr12:56693944/chr2:234343026)
- 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
CS

O75390

.
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
TgeneDGKDchr12:56693944chr2:234343026ENST000002640572301145_12081161215.0DomainSAM
TgeneDGKDchr12:56693944chr2:234343026ENST00000264057230317_4511161215.0DomainDAGKc
TgeneDGKDchr12:56693944chr2:234343026ENST000004098131291145_1208721171.0DomainSAM
TgeneDGKDchr12:56693944chr2:234343026ENST00000409813129317_451721171.0DomainDAGKc
TgeneDGKDchr12:56693944chr2:234343026ENST00000264057230163_2131161215.0Zinc fingerPhorbol-ester/DAG-type 1
TgeneDGKDchr12:56693944chr2:234343026ENST00000264057230235_2861161215.0Zinc fingerPhorbol-ester/DAG-type 2
TgeneDGKDchr12:56693944chr2:234343026ENST00000409813129163_213721171.0Zinc fingerPhorbol-ester/DAG-type 1
TgeneDGKDchr12:56693944chr2:234343026ENST00000409813129235_286721171.0Zinc fingerPhorbol-ester/DAG-type 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDGKDchr12:56693944chr2:234343026ENST000002640572308_361161215.0Compositional biasNote=Pro-rich
TgeneDGKDchr12:56693944chr2:234343026ENST000004098131298_36721171.0Compositional biasNote=Pro-rich
TgeneDGKDchr12:56693944chr2:234343026ENST0000026405723053_1461161215.0DomainPH
TgeneDGKDchr12:56693944chr2:234343026ENST0000040981312953_146721171.0DomainPH


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Fusion Gene Sequence for CS-DGKD


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.
>19668_19668_1_CS-DGKD_CS_chr12_56693944_ENST00000351328_DGKD_chr2_234343026_ENST00000264057_length(transcript)=6170nt_BP=233nt
CAGTGGGCGGGGCCTCCTTGAGGACCCCGGGCTGGGCGCCGCCGCCGGTTCGTCTACTCTTTCCTTCAGCCGCCTCCTTTCAACCTTGTC
AACCCGTCGGCGCGGCCTCTGGTGCAGCGGCGGCGGCTCCTGTTCCTGCCGCAGCTCTCTCCCTTTCTTACCTCCCCACCAGATCCCGGA
GATCGCCCGCCATGGCTTTACTTACTGCGGCCGCCCGGCTCTTGGGAACCAAGGTCATAACTCCATGCAGGAAGCTCATCTTGTGTGCTG
ATAACAGAAAAGAAATGGAAGATTGGATTGCAGCATTAAAGACTGTGCAGAACAGGGAGCACTTTGAGCCCACCCAGTACAGCATGGACC
ACTTCTCAGGGATGCACAATTGGTACGCCTGTTCCCACGCGAGGCCGACCTACTGCAATGTGTGCCGTGAGGCTCTGTCTGGGGTCACGT
CGCACGGGCTGTCCTGCGAGGTGTGCAAATTTAAGGCCCACAAGCGCTGTGCTGTGCGTGCAACCAATAACTGCAAGTGGACCACACTGG
CCTCGATCGGGAAGGACATCATTGAAGATGCAGATGGGATTGCAATGCCCCACCAGTGGTTGGAAGGAAACCTACCTGTGAGCGCCAAGT
GCACTGTGTGCGACAAGACCTGTGGCAGTGTGCTGCGCCTGCAGGACTGGCGCTGCCTCTGGTGCAAGGCCATGGTTCACACATCGTGTA
AAGAATCCTTGCTGACCAAGTGCCCACTTGGCCTGTGCAAAGTGTCAGTCATCCCACCCACGGCTCTCAACAGCATCGACTCCGATGGGT
TCTGGAAGGCCAGCTGTCCTCCTTCTTGCACAAGCCCACTGTTGGTCTTCGTCAATTCAAAAAGTGGGGACAACCAGGGTGTGAAGTTCC
TCAGAAGATTCAAACAGCTACTAAACCCCGCCCAGGTCTTCGACCTCATGAACGGAGGCCCACACCTCGGCTTACGGTTATTCCAGAAGT
TTGACACATTCCGGATTCTGGTTTGTGGCGGGGATGGAAGTGTTGGCTGGGTCCTCTCCGAAATCGACAGCCTCAACCTTCATAAACAGT
GTCAGCTGGGAGTGCTGCCGCTCGGCACAGGGAACGACTTGGCCCGAGTACTGGGCTGGGGCTCAGCCTGCGATGACGACACCCAGCTCC
CCCAGATCTTGGAGAAGTTGGAGAGAGCCAGCACCAAGATGCTGGACAGGTGGAGCGTCATGGCATACGAGGCCAAGCTCCCCCGGCAGG
CCTCCTCCTCTACCGTCACCGAAGACTTCAGCGAGGATTCCGAGGTACAGCAGATTCTCTTCTATGAAGACTCGGTTGCAGCCCACCTTT
CTAAAATCCTCACCTCGGACCAGCACTCGGTGGTCATCTCCTCGGCCAAAGTGCTCTGTGAGACGGTGAAGGACTTCGTGGCACGGGTGG
GGAAGGCCTATGAGAAGACGACCGAGAGCTCGGAGGAGTCAGAGGTCATGGCCAAGAAGTGCTCTGTCCTGAAAGAGAAGCTGGATTCCC
TTCTCAAGACCTTGGACGATGAGTCCCAGGCCTCGTCCTCTCTGCCCAACCCGCCCCCCACCATTGCCGAGGAGGCTGAAGATGGAGATG
GGTCGGGCAGCATCTGCGGTTCCACCGGAGACCGCTTGGTGGCATCAGCTTGCCCGGCCCGGCCGCAGATATTCCGGCCTCGAGAACAGC
TCATGCTGAGAGCCAACAGCCTGAAGAAAGCAATTCGTCAGATCATAGAACACACAGAAAAAGCTGTCGATGAGCAGAATGCCCAGACCC
AGGAGCAGGAGGGCTTCGTCCTGGGCCTCTCTGAGTCAGAGGAGAAGATGGACCACAGAGTGTGCCCACCACTGTCCCACAGCGAGAGCT
TCGGGGTCCCCAAGGGGAGGAGCCAGCGCAAAGTGTCGAAATCTCCGTGTGAAAAGCTGATCAGCAAAGGGAGTCTGTCCCTAGGCAGTT
CTGCTTCCCTTCCGCCCCAGCCGGGAAGCCGGGACGGCCTGCCTGCGCTCAACACCAAGATCCTGTACCCAAATGTCCGGGCTGGAATGT
CTGGTTCCTTACCCGGTGGCTCAGTCATCAGTCGCCTGTTAATTAATGCTGATCCCTTCAACTCTGAACCAGAAACCCTAGAGTATTACA
CGGAGAAATGTGTCATGAACAACTATTTTGGCATTGGCCTGGATGCGAAGATATCCCTGGACTTTAACAACAAGCGCGATGAGCACCCAG
AGAAGTGCAGGAGCCGAACCAAGAACATGATGTGGTATGGAGTTCTTGGAACCAAAGAGTTGCTGCACAGAACCTACAAGAACCTGGAGC
AAAAGGTCTTGCTGGAGTGTGACGGGCGACCCATCCCACTCCCCAGTCTTCAGGGAATTGCTGTCCTTAACATTCCCAGCTATGCCGGAG
GAACCAACTTCTGGGGGGGTACCAAGGAAGATGATACTTTCGCAGCTCCATCATTCGATGACAAGATTCTGGAGGTGGTCGCCGTGTTCG
GCAGCATGCAGATGGCCGTCTCTCGAGTCATCAGGCTACAGCATCATCGGATCGCCCAGTGTCGCACGGTGAAGATCTCCATCCTTGGGG
ATGAGGGCGTGCCTGTGCAGGTGGACGGAGAGGCCTGGGTCCAGCCGCCAGGGTACATTCGGATTGTCCACAAGAACCGGGCACAGACAC
TGACCAGAGACAGGGCATTTGAGAGCACCCTGAAGTCCTGGGAAGACAAGCAGAAGTGCGAGCTGCCCCGCCCTCCATCCTGTTCCCTGC
ACCCGGAGATGCTGTCCGAGGAGGAGGCCACCCAGATGGACCAGTTTGGGCAGGCAGCAGGGGTCCTCATTCACAGTATCCGAGAAATAG
CTCAGTCTCACCGGGACATGGAGCAGGAACTGGCCCACGCCGTCAATGCCAGCTCCAAGTCCATGGACCGTGTGTATGGCAAGCCCAGAA
CCACAGAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGA
AGATGGCCCTGCAGCTGGATCCGCCTCAGAAGGAGCAGCTGGGGAGTGCTCTTGCCGAGATGGACCGACAGCTCAGGAGGCTGGCAGACA
CCCCGTGGCTCTGCCAGTCCGCAGAGCCCGGCGACGAAGAGAGTGTGATGCTGGATCTTGCCAAGCGCAGTCGCAGTGGTAAATTCCGCC
TCGTGACCAAGTTTAAAAAGGAGAAAAACAACAAGAACAAAGAAGCTCACAGTAGCCTGGGAGCCCCGGTTCACCTCTGGGGGACAGAGG
AGGTTGCTGCCTGGCTGGAGCACCTCAGTCTCTGTGAGTATAAGGACATCTTCACACGGCACGACATCCGGGGCTCTGAGCTCCTGCACC
TGGAGCGGAGGGACCTCAAGGACCTGGGCGTGACCAAGGTGGGCCACATGAAGAGGATCCTGTGTGGCATCAAGGAGCTGAGCCGCAGCG
CCCCCGCCGTCGAGGCCTAGCCTCTGTCCTCTCAGCCTGTGGCCTCCACATCCCCGCCGCCGAGGCCTAGCCTCCGCCCTCTCAGCCTGT
GGCCTCTGCGCCTCCTGCCACTGAGGCCCTGGGCAGATGCTGCAGCCCGCCCCCTTCTCATGGTGCTACTTCCTCTGTCAGCTACAGAAA
GCCTCCGTGACACCGTCCACCAGAGCTCTGGGGTCTCGAACATAACAACACAGCTACCTTTGAAACAACACTTTCTCCAGCTCAGAGTCA
CCTGGGGCACATGTGTCACGGCCACTCAGCTCTCGCCCGCCTGTGCTGTGGGCCAGGGAATCCAGCGGCGTCTGGCCTCCTGGGCACTGC
TTGCCTGGCCTCGTGCTTGGATTGTCCCGGGGGCTCCTCTCCGTGTGTCCTTCTGTGGCCGCACCGTGTGGCTCCGCCTCCTGGCCCCCA
GCCAGTTCTCAGAAACGTGGCTGGGGCCCAGCACAGCAGCCTGCAAGGGCCCCTGTTTGTTGATGCAGCTTTTGTTGAACAAAAATCGTG
CTCTTTCCTGGTTTGAAAGTAGCATGGATGTTTCCAGTCTTGTTGATTGTAATTTGACGTGAAGAGAAAAAAAAATTCCTCCTGCGTGAG
CCAAGGCAGCGGGTGCTGTTTCCCAGGCGGGGAGCCCCTCCCTGGGTGTCACAGGGCCTGTGCTCCTCCCTCCTCCATCCTCTCTCCTCC
CGCTCCTCCCTCCCCCCACTGTGGGCTGGGGACGCCTGCCCTTCTGTCTCCGGACGCTCTAGGCGAGTTCAGCTTGGGGTGTGAGTGAGA
CAGCTTGCCAGCTGCATCCCTGCAGACAGAGGATGTGTGTCCACATGAGTGTTTCTGTGTGGGAAATGCTTCCTGGCTCTGGGAAACTTT
TTCTGCCCATTCTGTGGTTCCCAGGGAGCGTGGCCCTGGTGGGCCAGGGGTGGTTTGACCTCTTCAGCCCGTCCGGTGGCCTGGAGGCCG
GAGGCTCTCCTGAGTGTCTGCCCCTGCAGTGGCTTCTTGTCGCCTGCTGCTGGGCGTGATGTCGCTGGAGGTGCTGGCAGGGACTCTGAT
TTGGTGGTCCGCGCTGCCCCTGCCCTGCCTCTGTCCTGGCTCTGAACTAGTAGATGATGGTGCCAGAGGGCAGGGAGCTCGCCTGGGGAG
AGGGCTGTGCCCCGTAGGGACAGTGCCCAGGTGAAGGATGCCCCTGGTCCTCCAGGGCACTGACTTTGCCCTTTTTTCCCGTTGATAGTC
ATGGCTCAGAGGTGCTTGTAAATGTCTTGGGAAGAGGTTTCTGTAACCCCTGCCCTGGTGTGAGGAGGAAATGGCTCTGGCCTGGCTGCC
TGGCCGTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAGTGTTGGGAGTATCTGCCGTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAG
TGTTGGGAGTATCTGCCGGCGCTGTCCAGGTCCTTTAGTCAGCGTCACTCCATCTGATGTGCAGAAGCTGGGCTGCACCTGCGGGGGTGG
GCATAGACCGGGCTGGGTCTGCAGCAGCCCCTGGTCCTGAGCAGGCGGCAGTGAACAGCACTGGCCCACCTCCCACTCACAGCCCCTCTG
TCCCCTCTGCAGTGCACCCAGGTGGGCCCCTCTGCGTGCCTTTGGGTGCTCCCCTCTCGTGGTCGTTCTGGCCCGAGGCCCTTAGAGTAT
GGAGGCTGAGCCAGGCCTTGGGTTTCCCCAGCACAGCCTCCTGTCGCTGCATGCGACGTGTTGGGATTTTTGGATGAAAGACTCTCCCAC
GCTCTGTTGGTGGACTTAGCTGCCTCACTGGAAGTGATGTGGGTGGAAGGTGGTTGTATGTTACCTTTTCCACCTCTCATTGTTTTCCCC
AGAACATTGTAGATGGGGGTTGGCAGAGGGAGAAATAAGCCAGCCACGGCAGTCGCTTGGTTTCCCAGGTGGAATGGGCTAACACAGGAG
ATGATGGGAACCTGTCCCGCAGTCCCTGCATGACCATTGGCCCTGCTGGCCTGGCGATGTGGGCATCCTGGGGTTCTTAGGGTCCCAGAA
CAAGCCCCAGGCAAGCTGGAACTTGGGTGGGGAGGGGACATGAGGAGGATAAACAGCTGACTGTGGCTTCAAGGACATCAGGGCCACCCC
AAGTCCTCAGTGTCCTACTCCTGGCAAGGAGTTGGGTTTGGATCAAAAGTGTTTAAAATTAATATGTTGTCAGTGATTAGAACAACACTG
TTTACATAAAAACCATTTTTCTAATTCTAACAAGTTAGAATGTGAGGAAGGAATGAACATGAGTGTTTAGGAACCTGCCCTTTGGTGCTG
GGCTGGCGTCCCGCACTGGGGTGTCCTCGCTGTCTGGGGGCTGCTCTGCTGCCCCGGCCCAGGTCCCCTTGTGGTGTTGCCAGACGGGCC
TCATGGTCTGCTGTGCAGAGAGAGGCAGGAAGGATCCCTGAAGAGTCTTGGAGAAAAGGTTCTGTGCCCTCAGGTGGGGCTTACCCCCTC
GTATTTATAATCTTAATTTATATAGTGACCACCGTGGAAACAAACGCCTCTTGTATTGTCATGTACATAGTCCATACCTGAGTGCTGTAC

>19668_19668_1_CS-DGKD_CS_chr12_56693944_ENST00000351328_DGKD_chr2_234343026_ENST00000264057_length(amino acids)=1170AA_BP=72
MRTPGWAPPPVRLLFPSAASFQPCQPVGAASGAAAAAPVPAAALSLSYLPTRSRRSPAMALLTAAARLLGTKVITPCRKLILCADNRKEM
EDWIAALKTVQNREHFEPTQYSMDHFSGMHNWYACSHARPTYCNVCREALSGVTSHGLSCEVCKFKAHKRCAVRATNNCKWTTLASIGKD
IIEDADGIAMPHQWLEGNLPVSAKCTVCDKTCGSVLRLQDWRCLWCKAMVHTSCKESLLTKCPLGLCKVSVIPPTALNSIDSDGFWKASC
PPSCTSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPHLGLRLFQKFDTFRILVCGGDGSVGWVLSEIDSLNLHKQCQLGVL
PLGTGNDLARVLGWGSACDDDTQLPQILEKLERASTKMLDRWSVMAYEAKLPRQASSSTVTEDFSEDSEVQQILFYEDSVAAHLSKILTS
DQHSVVISSAKVLCETVKDFVARVGKAYEKTTESSEESEVMAKKCSVLKEKLDSLLKTLDDESQASSSLPNPPPTIAEEAEDGDGSGSIC
GSTGDRLVASACPARPQIFRPREQLMLRANSLKKAIRQIIEHTEKAVDEQNAQTQEQEGFVLGLSESEEKMDHRVCPPLSHSESFGVPKG
RSQRKVSKSPCEKLISKGSLSLGSSASLPPQPGSRDGLPALNTKILYPNVRAGMSGSLPGGSVISRLLINADPFNSEPETLEYYTEKCVM
NNYFGIGLDAKISLDFNNKRDEHPEKCRSRTKNMMWYGVLGTKELLHRTYKNLEQKVLLECDGRPIPLPSLQGIAVLNIPSYAGGTNFWG
GTKEDDTFAAPSFDDKILEVVAVFGSMQMAVSRVIRLQHHRIAQCRTVKISILGDEGVPVQVDGEAWVQPPGYIRIVHKNRAQTLTRDRA
FESTLKSWEDKQKCELPRPPSCSLHPEMLSEEEATQMDQFGQAAGVLIHSIREIAQSHRDMEQELAHAVNASSKSMDRVYGKPRTTEGLN
CSFVLEMVNNFRALRSETELLLSGKMALQLDPPQKEQLGSALAEMDRQLRRLADTPWLCQSAEPGDEESVMLDLAKRSRSGKFRLVTKFK
KEKNNKNKEAHSSLGAPVHLWGTEEVAAWLEHLSLCEYKDIFTRHDIRGSELLHLERRDLKDLGVTKVGHMKRILCGIKELSRSAPAVEA

--------------------------------------------------------------
>19668_19668_2_CS-DGKD_CS_chr12_56693944_ENST00000351328_DGKD_chr2_234343026_ENST00000409813_length(transcript)=6166nt_BP=233nt
CAGTGGGCGGGGCCTCCTTGAGGACCCCGGGCTGGGCGCCGCCGCCGGTTCGTCTACTCTTTCCTTCAGCCGCCTCCTTTCAACCTTGTC
AACCCGTCGGCGCGGCCTCTGGTGCAGCGGCGGCGGCTCCTGTTCCTGCCGCAGCTCTCTCCCTTTCTTACCTCCCCACCAGATCCCGGA
GATCGCCCGCCATGGCTTTACTTACTGCGGCCGCCCGGCTCTTGGGAACCAAGGTCATAACTCCATGCAGGAAGCTCATCTTGTGTGCTG
ATAACAGAAAAGAAATGGAAGATTGGATTGCAGCATTAAAGACTGTGCAGAACAGGGAGCACTTTGAGCCCACCCAGTACAGCATGGACC
ACTTCTCAGGGATGCACAATTGGTACGCCTGTTCCCACGCGAGGCCGACCTACTGCAATGTGTGCCGTGAGGCTCTGTCTGGGGTCACGT
CGCACGGGCTGTCCTGCGAGGTGTGCAAATTTAAGGCCCACAAGCGCTGTGCTGTGCGTGCAACCAATAACTGCAAGTGGACCACACTGG
CCTCGATCGGGAAGGACATCATTGAAGATGCAGATGGGATTGCAATGCCCCACCAGTGGTTGGAAGGAAACCTACCTGTGAGCGCCAAGT
GCACTGTGTGCGACAAGACCTGTGGCAGTGTGCTGCGCCTGCAGGACTGGCGCTGCCTCTGGTGCAAGGCCATGGTTCACACATCGTGTA
AAGAATCCTTGCTGACCAAGTGCCCACTTGGCCTGTGCAAAGTGTCAGTCATCCCACCCACGGCTCTCAACAGCATCGACTCCGATGGGT
TCTGGAAGGCCAGCTGTCCTCCTTCTTGCACAAGCCCACTGTTGGTCTTCGTCAATTCAAAAAGTGGGGACAACCAGGGTGTGAAGTTCC
TCAGAAGATTCAAACAGCTACTAAACCCCGCCCAGGTCTTCGACCTCATGAACGGAGGCCCACACCTCGGCTTACGGTTATTCCAGAAGT
TTGACACATTCCGGATTCTGGTTTGTGGCGGGGATGGAAGTGTTGGCTGGGTCCTCTCCGAAATCGACAGCCTCAACCTTCATAAACAGT
GTCAGCTGGGAGTGCTGCCGCTCGGCACAGGGAACGACTTGGCCCGAGTACTGGGCTGGGGCTCAGCCTGCGATGACGACACCCAGCTCC
CCCAGATCTTGGAGAAGTTGGAGAGAGCCAGCACCAAGATGCTGGACAGGTGGAGCGTCATGGCATACGAGGCCAAGCTCCCCCGGCAGG
CCTCCTCCTCTACCGTCACCGAAGACTTCAGCGAGGATTCCGAGGTACAGCAGATTCTCTTCTATGAAGACTCGGTTGCAGCCCACCTTT
CTAAAATCCTCACCTCGGACCAGCACTCGGTGGTCATCTCCTCGGCCAAAGTGCTCTGTGAGACGGTGAAGGACTTCGTGGCACGGGTGG
GGAAGGCCTATGAGAAGACGACCGAGAGCTCGGAGGAGTCAGAGGTCATGGCCAAGAAGTGCTCTGTCCTGAAAGAGAAGCTGGATTCCC
TTCTCAAGACCTTGGACGATGAGTCCCAGGCCTCGTCCTCTCTGCCCAACCCGCCCCCCACCATTGCCGAGGAGGCTGAAGATGGAGATG
GGTCGGGCAGCATCTGCGGTTCCACCGGAGACCGCTTGGTGGCATCAGCTTGCCCGGCCCGGCCGCAGATATTCCGGCCTCGAGAACAGC
TCATGCTGAGAGCCAACAGCCTGAAGAAAGCAATTCGTCAGATCATAGAACACACAGAAAAAGCTGTCGATGAGCAGAATGCCCAGACCC
AGGAGCAGGAGGGCTTCGTCCTGGGCCTCTCTGAGTCAGAGGAGAAGATGGACCACAGAGTGTGCCCACCACTGTCCCACAGCGAGAGCT
TCGGGGTCCCCAAGGGGAGGAGCCAGCGCAAAGTGTCGAAATCTCCGTGTGAAAAGCTGATCAGCAAAGGGAGTCTGTCCCTAGGCAGTT
CTGCTTCCCTTCCGCCCCAGCCGGGAAGCCGGGACGGCCTGCCTGCGCTCAACACCAAGATCCTGTACCCAAATGTCCGGGCTGGAATGT
CTGGTTCCTTACCCGGTGGCTCAGTCATCAGTCGCCTGTTAATTAATGCTGATCCCTTCAACTCTGAACCAGAAACCCTAGAGTATTACA
CGGAGAAATGTGTCATGAACAACTATTTTGGCATTGGCCTGGATGCGAAGATATCCCTGGACTTTAACAACAAGCGCGATGAGCACCCAG
AGAAGTGCAGGAGCCGAACCAAGAACATGATGTGGTATGGAGTTCTTGGAACCAAAGAGTTGCTGCACAGAACCTACAAGAACCTGGAGC
AAAAGGTCTTGCTGGAGTGTGACGGGCGACCCATCCCACTCCCCAGTCTTCAGGGAATTGCTGTCCTTAACATTCCCAGCTATGCCGGAG
GAACCAACTTCTGGGGGGGTACCAAGGAAGATGATACTTTCGCAGCTCCATCATTCGATGACAAGATTCTGGAGGTGGTCGCCGTGTTCG
GCAGCATGCAGATGGCCGTCTCTCGAGTCATCAGGCTACAGCATCATCGGATCGCCCAGTGTCGCACGGTGAAGATCTCCATCCTTGGGG
ATGAGGGCGTGCCTGTGCAGGTGGACGGAGAGGCCTGGGTCCAGCCGCCAGGGTACATTCGGATTGTCCACAAGAACCGGGCACAGACAC
TGACCAGAGACAGGGCATTTGAGAGCACCCTGAAGTCCTGGGAAGACAAGCAGAAGTGCGAGCTGCCCCGCCCTCCATCCTGTTCCCTGC
ACCCGGAGATGCTGTCCGAGGAGGAGGCCACCCAGATGGACCAGTTTGGGCAGGCAGCAGGGGTCCTCATTCACAGTATCCGAGAAATAG
CTCAGTCTCACCGGGACATGGAGCAGGAACTGGCCCACGCCGTCAATGCCAGCTCCAAGTCCATGGACCGTGTGTATGGCAAGCCCAGAA
CCACAGAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGA
AGATGGCCCTGCAGCTGGATCCGCCTCAGAAGGAGCAGCTGGGGAGTGCTCTTGCCGAGATGGACCGACAGCTCAGGAGGCTGGCAGACA
CCCCGTGGCTCTGCCAGTCCGCAGAGCCCGGCGACGAAGAGAGTGTGATGCTGGATCTTGCCAAGCGCAGTCGCAGTGGTAAATTCCGCC
TCGTGACCAAGTTTAAAAAGGAGAAAAACAACAAGAACAAAGAAGCTCACAGTAGCCTGGGAGCCCCGGTTCACCTCTGGGGGACAGAGG
AGGTTGCTGCCTGGCTGGAGCACCTCAGTCTCTGTGAGTATAAGGACATCTTCACACGGCACGACATCCGGGGCTCTGAGCTCCTGCACC
TGGAGCGGAGGGACCTCAAGGACCTGGGCGTGACCAAGGTGGGCCACATGAAGAGGATCCTGTGTGGCATCAAGGAGCTGAGCCGCAGCG
CCCCCGCCGTCGAGGCCTAGCCTCTGTCCTCTCAGCCTGTGGCCTCCACATCCCCGCCGCCGAGGCCTAGCCTCCGCCCTCTCAGCCTGT
GGCCTCTGCGCCTCCTGCCACTGAGGCCCTGGGCAGATGCTGCAGCCCGCCCCCTTCTCATGGTGCTACTTCCTCTGTCAGCTACAGAAA
GCCTCCGTGACACCGTCCACCAGAGCTCTGGGGTCTCGAACATAACAACACAGCTACCTTTGAAACAACACTTTCTCCAGCTCAGAGTCA
CCTGGGGCACATGTGTCACGGCCACTCAGCTCTCGCCCGCCTGTGCTGTGGGCCAGGGAATCCAGCGGCGTCTGGCCTCCTGGGCACTGC
TTGCCTGGCCTCGTGCTTGGATTGTCCCGGGGGCTCCTCTCCGTGTGTCCTTCTGTGGCCGCACCGTGTGGCTCCGCCTCCTGGCCCCCA
GCCAGTTCTCAGAAACGTGGCTGGGGCCCAGCACAGCAGCCTGCAAGGGCCCCTGTTTGTTGATGCAGCTTTTGTTGAACAAAAATCGTG
CTCTTTCCTGGTTTGAAAGTAGCATGGATGTTTCCAGTCTTGTTGATTGTAATTTGACGTGAAGAGAAAAAAAAATTCCTCCTGCGTGAG
CCAAGGCAGCGGGTGCTGTTTCCCAGGCGGGGAGCCCCTCCCTGGGTGTCACAGGGCCTGTGCTCCTCCCTCCTCCATCCTCTCTCCTCC
CGCTCCTCCCTCCCCCCACTGTGGGCTGGGGACGCCTGCCCTTCTGTCTCCGGACGCTCTAGGCGAGTTCAGCTTGGGGTGTGAGTGAGA
CAGCTTGCCAGCTGCATCCCTGCAGACAGAGGATGTGTGTCCACATGAGTGTTTCTGTGTGGGAAATGCTTCCTGGCTCTGGGAAACTTT
TTCTGCCCATTCTGTGGTTCCCAGGGAGCGTGGCCCTGGTGGGCCAGGGGTGGTTTGACCTCTTCAGCCCGTCCGGTGGCCTGGAGGCCG
GAGGCTCTCCTGAGTGTCTGCCCCTGCAGTGGCTTCTTGTCGCCTGCTGCTGGGCGTGATGTCGCTGGAGGTGCTGGCAGGGACTCTGAT
TTGGTGGTCCGCGCTGCCCCTGCCCTGCCTCTGTCCTGGCTCTGAACTAGTAGATGATGGTGCCAGAGGGCAGGGAGCTCGCCTGGGGAG
AGGGCTGTGCCCCGTAGGGACAGTGCCCAGGTGAAGGATGCCCCTGGTCCTCCAGGGCACTGACTTTGCCCTTTTTTCCCGTTGATAGTC
ATGGCTCAGAGGTGCTTGTAAATGTCTTGGGAAGAGGTTTCTGTAACCCCTGCCCTGGTGTGAGGAGGAAATGGCTCTGGCCTGGCTGCC
TGGCCGTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAGTGTTGGGAGTATCTGCCGTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAG
TGTTGGGAGTATCTGCCGGCGCTGTCCAGGTCCTTTAGTCAGCGTCACTCCATCTGATGTGCAGAAGCTGGGCTGCACCTGCGGGGGTGG
GCATAGACCGGGCTGGGTCTGCAGCAGCCCCTGGTCCTGAGCAGGCGGCAGTGAACAGCACTGGCCCACCTCCCACTCACAGCCCCTCTG
TCCCCTCTGCAGTGCACCCAGGTGGGCCCCTCTGCGTGCCTTTGGGTGCTCCCCTCTCGTGGTCGTTCTGGCCCGAGGCCCTTAGAGTAT
GGAGGCTGAGCCAGGCCTTGGGTTTCCCCAGCACAGCCTCCTGTCGCTGCATGCGACGTGTTGGGATTTTTGGATGAAAGACTCTCCCAC
GCTCTGTTGGTGGACTTAGCTGCCTCACTGGAAGTGATGTGGGTGGAAGGTGGTTGTATGTTACCTTTTCCACCTCTCATTGTTTTCCCC
AGAACATTGTAGATGGGGGTTGGCAGAGGGAGAAATAAGCCAGCCACGGCAGTCGCTTGGTTTCCCAGGTGGAATGGGCTAACACAGGAG
ATGATGGGAACCTGTCCCGCAGTCCCTGCATGACCATTGGCCCTGCTGGCCTGGCGATGTGGGCATCCTGGGGTTCTTAGGGTCCCAGAA
CAAGCCCCAGGCAAGCTGGAACTTGGGTGGGGAGGGGACATGAGGAGGATAAACAGCTGACTGTGGCTTCAAGGACATCAGGGCCACCCC
AAGTCCTCAGTGTCCTACTCCTGGCAAGGAGTTGGGTTTGGATCAAAAGTGTTTAAAATTAATATGTTGTCAGTGATTAGAACAACACTG
TTTACATAAAAACCATTTTTCTAATTCTAACAAGTTAGAATGTGAGGAAGGAATGAACATGAGTGTTTAGGAACCTGCCCTTTGGTGCTG
GGCTGGCGTCCCGCACTGGGGTGTCCTCGCTGTCTGGGGGCTGCTCTGCTGCCCCGGCCCAGGTCCCCTTGTGGTGTTGCCAGACGGGCC
TCATGGTCTGCTGTGCAGAGAGAGGCAGGAAGGATCCCTGAAGAGTCTTGGAGAAAAGGTTCTGTGCCCTCAGGTGGGGCTTACCCCCTC
GTATTTATAATCTTAATTTATATAGTGACCACCGTGGAAACAAACGCCTCTTGTATTGTCATGTACATAGTCCATACCTGAGTGCTGTAC

>19668_19668_2_CS-DGKD_CS_chr12_56693944_ENST00000351328_DGKD_chr2_234343026_ENST00000409813_length(amino acids)=1170AA_BP=72
MRTPGWAPPPVRLLFPSAASFQPCQPVGAASGAAAAAPVPAAALSLSYLPTRSRRSPAMALLTAAARLLGTKVITPCRKLILCADNRKEM
EDWIAALKTVQNREHFEPTQYSMDHFSGMHNWYACSHARPTYCNVCREALSGVTSHGLSCEVCKFKAHKRCAVRATNNCKWTTLASIGKD
IIEDADGIAMPHQWLEGNLPVSAKCTVCDKTCGSVLRLQDWRCLWCKAMVHTSCKESLLTKCPLGLCKVSVIPPTALNSIDSDGFWKASC
PPSCTSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPHLGLRLFQKFDTFRILVCGGDGSVGWVLSEIDSLNLHKQCQLGVL
PLGTGNDLARVLGWGSACDDDTQLPQILEKLERASTKMLDRWSVMAYEAKLPRQASSSTVTEDFSEDSEVQQILFYEDSVAAHLSKILTS
DQHSVVISSAKVLCETVKDFVARVGKAYEKTTESSEESEVMAKKCSVLKEKLDSLLKTLDDESQASSSLPNPPPTIAEEAEDGDGSGSIC
GSTGDRLVASACPARPQIFRPREQLMLRANSLKKAIRQIIEHTEKAVDEQNAQTQEQEGFVLGLSESEEKMDHRVCPPLSHSESFGVPKG
RSQRKVSKSPCEKLISKGSLSLGSSASLPPQPGSRDGLPALNTKILYPNVRAGMSGSLPGGSVISRLLINADPFNSEPETLEYYTEKCVM
NNYFGIGLDAKISLDFNNKRDEHPEKCRSRTKNMMWYGVLGTKELLHRTYKNLEQKVLLECDGRPIPLPSLQGIAVLNIPSYAGGTNFWG
GTKEDDTFAAPSFDDKILEVVAVFGSMQMAVSRVIRLQHHRIAQCRTVKISILGDEGVPVQVDGEAWVQPPGYIRIVHKNRAQTLTRDRA
FESTLKSWEDKQKCELPRPPSCSLHPEMLSEEEATQMDQFGQAAGVLIHSIREIAQSHRDMEQELAHAVNASSKSMDRVYGKPRTTEGLN
CSFVLEMVNNFRALRSETELLLSGKMALQLDPPQKEQLGSALAEMDRQLRRLADTPWLCQSAEPGDEESVMLDLAKRSRSGKFRLVTKFK
KEKNNKNKEAHSSLGAPVHLWGTEEVAAWLEHLSLCEYKDIFTRHDIRGSELLHLERRDLKDLGVTKVGHMKRILCGIKELSRSAPAVEA

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Fusion Gene PPI Analysis for CS-DGKD


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 CS-DGKD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCSO75390DB04272Citric acidSmall moleculeApproved|Nutraceutical|Vet_approved

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Related Diseases for CS-DGKD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCSC0003129Anoxemia1CTD_human
HgeneCSC0003130Anoxia1CTD_human
HgeneCSC0018801Heart failure1CTD_human
HgeneCSC0018802Congestive heart failure1CTD_human
HgeneCSC0023212Left-Sided Heart Failure1CTD_human
HgeneCSC0028754Obesity1CTD_human
HgeneCSC0033141Cardiomyopathies, Primary1CTD_human
HgeneCSC0036529Myocardial Diseases, Secondary1CTD_human
HgeneCSC0235527Heart Failure, Right-Sided1CTD_human
HgeneCSC0242184Hypoxia1CTD_human
HgeneCSC0700292Hypoxemia1CTD_human
HgeneCSC0878544Cardiomyopathies1CTD_human
HgeneCSC1959583Myocardial Failure1CTD_human
HgeneCSC1961112Heart Decompensation1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human