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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CDKN2B-DGKD

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CDKN2B-DGKD
FusionPDB ID: 15416
FusionGDB2.0 ID: 15416
HgeneTgene
Gene symbol

CDKN2B

DGKD

Gene ID

1030

8527

Gene namecyclin dependent kinase inhibitor 2Bdiacylglycerol kinase delta
SynonymsCDK4I|INK4B|MTS2|P15|TP15|p15INK4bDGK-delta|DGKdelta|dgkd-2
Cytomap

9p21.3

2q37.1

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 4 inhibitor BCDK inhibitory proteinCDK4B inhibitorMTS-2cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)cyclin-dependent kinases 4 and 6 binding proteinmultiple tumor suppressor 2p14-INK4bp14_CDK inhibitorp14_INK4Bdiacylglycerol kinase deltaDAG kinase deltadiacylglycerol kinase, delta 130kDadiglyceride kinase delta
Modification date2020032220200313
UniProtAcc

P42772

Q16760

Ensembl transtripts involved in fusion geneENST idsENST00000276925, ENST00000380142, 
ENST00000539462, 
ENST00000489613, 
ENST00000409813, ENST00000264057, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CDKN2B [Title/Abstract] AND DGKD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CDKN2B(22008797)-DGKD(234296903), # samples:1
Anticipated loss of major functional domain due to fusion event.CDKN2B-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.
CDKN2B-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.
CDKN2B-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.
CDKN2B-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.
CDKN2B-DGKD seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CDKN2B-DGKD seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CDKN2B-DGKD 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
HgeneCDKN2B

GO:0000079

regulation of cyclin-dependent protein serine/threonine kinase activity

8078588

HgeneCDKN2B

GO:0042326

negative regulation of phosphorylation

8078588

TgeneDGKD

GO:0010033

response to organic substance

12200442


check buttonFusion gene breakpoints across CDKN2B (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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4GBMTCGA-06-0155-01BCDKN2Bchr9

22008797

-DGKDchr2

234296903

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000276925CDKN2Bchr922008797-ENST00000264057DGKDchr2234296903+669556618540541289

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
ENST00000276925ENST00000264057CDKN2Bchr922008797-DGKDchr2234296903+0.0017308610.9982691

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>15416_15416_1_CDKN2B-DGKD_CDKN2B_chr9_22008797_ENST00000276925_DGKD_chr2_234296903_ENST00000264057_length(amino acids)=1289AA_BP=126
MVLERQEKPGANDRPLGHCTGPQAAEGRREGNEAEPRSPRKERVRRSSVGKKGRVSLSLRPTVDYPGRCASGGCGMREENKGMPSGGGSD
EGLASAAARGLVEKVRQLLEAGADPNGVNRFGRRAIQTIIKEGMLTKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAE
SSTKNVNNSFTVITPCRKLILCADNRKEMEDWIAALKTVQNREHFEPTQYSMDHFSGMHNWYACSHARPTYCNVCREALSGVTSHGLSCE
VCKFKAHKRCAVRATNNCKWTTLASIGKDIIEDADGIAMPHQWLEGNLPVSAKCTVCDKTCGSVLRLQDWRCLWCKAMVHTSCKESLLTK
CPLGLCKVSVIPPTALNSIDSDGFWKASCPPSCTSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPHLGLRLFQKFDTFRIL
VCGGDGSVGWVLSEIDSLNLHKQCQLGVLPLGTGNDLARVLGWGSACDDDTQLPQILEKLERASTKMLDRWSVMAYEAKLPRQASSSTVT
EDFSEDSEVQQILFYEDSVAAHLSKILTSDQHSVVISSAKVLCETVKDFVARVGKAYEKTTESSEESEVMAKKCSVLKEKLDSLLKTLDD
ESQASSSLPNPPPTIAEEAEDGDGSGSICGSTGDRLVASACPARPQIFRPREQLMLRANSLKKAIRQIIEHTEKAVDEQNAQTQEQEGFV
LGLSESEEKMDHRVCPPLSHSESFGVPKGRSQRKVSKSPCEKLISKGSLSLGSSASLPPQPGSRDGLPALNTKILYPNVRAGMSGSLPGG
SVISRLLINADPFNSEPETLEYYTEKCVMNNYFGIGLDAKISLDFNNKRDEHPEKCRSRTKNMMWYGVLGTKELLHRTYKNLEQKVLLEC
DGRPIPLPSLQGIAVLNIPSYAGGTNFWGGTKEDDTFAAPSFDDKILEVVAVFGSMQMAVSRVIRLQHHRIAQCRTVKISILGDEGVPVQ
VDGEAWVQPPGYIRIVHKNRAQTLTRDRAFESTLKSWEDKQKCELPRPPSCSLHPEMLSEEEATQMDQFGQAAGVLIHSIREIAQSHRDM
EQELAHAVNASSKSMDRVYGKPRTTEGLNCSFVLEMVNNFRALRSETELLLSGKMALQLDPPQKEQLGSALAEMDRQLRRLADTPWLCQS
AEPGDEESVMLDLAKRSRSGKFRLVTKFKKEKNNKNKEAHSSLGAPVHLWGTEEVAAWLEHLSLCEYKDIFTRHDIRGSELLHLERRDLK

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Fusion Protein Functional Features


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/chr9:22008797/chr2:234296903)
- 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
CDKN2B

P42772

DGKD

Q16760

FUNCTION: Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest.FUNCTION: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12200442, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable). By controlling the levels of diacylglycerol, regulates for instance the PKC and EGF receptor signaling pathways and plays a crucial role during development (By similarity). May also regulate clathrin-dependent endocytosis (PubMed:17880279). {ECO:0000250|UniProtKB:E9PUQ8, ECO:0000269|PubMed:12200442, ECO:0000269|PubMed:17880279, ECO:0000269|PubMed:23949095, ECO:0000305}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000276925-1213_3952.0139.0RepeatNote=ANK 1%3B truncated
TgeneDGKDchr9:22008797chr2:234296903ENST000004098130298_3601171.0Compositional biasNote=Pro-rich
TgeneDGKDchr9:22008797chr2:234296903ENST000002640570301145_120852.01215.0DomainSAM
TgeneDGKDchr9:22008797chr2:234296903ENST00000264057030317_45152.01215.0DomainDAGKc
TgeneDGKDchr9:22008797chr2:234296903ENST0000026405703053_14652.01215.0DomainPH
TgeneDGKDchr9:22008797chr2:234296903ENST000004098130291145_120801171.0DomainSAM
TgeneDGKDchr9:22008797chr2:234296903ENST00000409813029317_45101171.0DomainDAGKc
TgeneDGKDchr9:22008797chr2:234296903ENST0000040981302953_14601171.0DomainPH
TgeneDGKDchr9:22008797chr2:234296903ENST00000264057030163_21352.01215.0Zinc fingerPhorbol-ester/DAG-type 1
TgeneDGKDchr9:22008797chr2:234296903ENST00000264057030235_28652.01215.0Zinc fingerPhorbol-ester/DAG-type 2
TgeneDGKDchr9:22008797chr2:234296903ENST00000409813029163_21301171.0Zinc fingerPhorbol-ester/DAG-type 1
TgeneDGKDchr9:22008797chr2:234296903ENST00000409813029235_28601171.0Zinc fingerPhorbol-ester/DAG-type 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000276925-12112_13852.0139.0RepeatNote=ANK 4
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000276925-1246_7452.0139.0RepeatNote=ANK 2
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000276925-1279_10852.0139.0RepeatNote=ANK 3
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000380142-12112_138079.0RepeatNote=ANK 4
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000380142-1213_39079.0RepeatNote=ANK 1%3B truncated
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000380142-1246_74079.0RepeatNote=ANK 2
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000380142-1279_108079.0RepeatNote=ANK 3
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000539462-11112_1380.079.0RepeatNote=ANK 4
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000539462-1113_390.079.0RepeatNote=ANK 1%3B truncated
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000539462-1146_740.079.0RepeatNote=ANK 2
HgeneCDKN2Bchr9:22008797chr2:234296903ENST00000539462-1179_1080.079.0RepeatNote=ANK 3
TgeneDGKDchr9:22008797chr2:234296903ENST000002640570308_3652.01215.0Compositional biasNote=Pro-rich


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CDKN2B
DGKD


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CDKN2B-DGKD


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CDKN2B-DGKD


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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