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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:ADRBK2-NOTCH2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ADRBK2-NOTCH2
FusionPDB ID: 2546
FusionGDB2.0 ID: 2546
HgeneTgene
Gene symbol

ADRBK2

NOTCH2

Gene ID

157

4853

Gene nameG protein-coupled receptor kinase 3notch receptor 2
SynonymsADRBK2|BARK2AGS2|HJCYS|hN2
Cytomap

22q12.1

1p12

Type of geneprotein-codingprotein-coding
Descriptionbeta-adrenergic receptor kinase 2adrenergic, beta, receptor kinase 2beta-ARK-2neurogenic locus notch homolog protein 2Notch homolog 2notch 2
Modification date2020031320200329
UniProtAcc.

P0DPK3

Ensembl transtripts involved in fusion geneENST idsENST00000324198, ENST00000602566, 
ENST00000493703, ENST00000256646, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 4 X 7=25213 X 10 X 6=780
# samples 1014
** MAII scorelog2(10/252*10)=-1.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ADRBK2 [Title/Abstract] AND NOTCH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ADRBK2(26000420)-NOTCH2(120572610), # samples:1
Anticipated loss of major functional domain due to fusion event.ADRBK2-NOTCH2 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.
ADRBK2-NOTCH2 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.
ADRBK2-NOTCH2 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.
ADRBK2-NOTCH2 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
HgeneADRBK2

GO:0031623

receptor internalization

20074556

TgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

TgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH2

GO:0010838

positive regulation of keratinocyte proliferation

18469519

TgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

TgeneNOTCH2

GO:2000249

regulation of actin cytoskeleton reorganization

18469519


check buttonFusion gene breakpoints across ADRBK2 (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 NOTCH2 (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
ChimerDB4OVTCGA-29-1691-01AADRBK2chr22

26000420

+NOTCH2chr1

120572610

-


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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)
ENST00000324198ADRBK2chr2226000420+ENST00000256646NOTCH2chr1120572610-1147838219277242510

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
ENST00000324198ENST00000256646ADRBK2chr2226000420+NOTCH2chr1120572610-0.000887610.9991124

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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

>2546_2546_1_ADRBK2-NOTCH2_ADRBK2_chr22_26000420_ENST00000324198_NOTCH2_chr1_120572610_ENST00000256646_length(amino acids)=2510AA_BP=63
MADLEAVLADVSYLMAMEKSKATPAARASKRIVLPEPSIRSVMQKYLAERNEITFDKIFNQKIALQCRDGYEPCVNEGMCVTYHNGTGYC
KCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKE
CQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCPQGFTGQYCDSLYVPCAPSPCV
NGGTCRQTGDFTFECNCLPGFEGSTCERNIDDCPNHRCQNGGVCVDGVNTYNCRCPPQWTGQFCTEDVDECLLQPNACQNGGTCANRNGG
YGCVCVNGWSGDDCSENIDDCAFASCTPGSTCIDRVASFSCMCPEGKAGLLCHLDDACISNPCHKGALCDTNPLNGQYICTCPQGYKGAD
CTEDVDECAMANSNPCEHAGKCVNTDGAFHCECLKGYAGPRCEMDINECHSDPCQNDATCLDKIGGFTCLCMPGFKGVHCELEINECQSN
PCVNNGQCVDKVNRFQCLCPPGFTGPVCQIDIDDCSSTPCLNGAKCIDHPNGYECQCATGFTGVLCEENIDNCDPDPCHHGQCQDGIDSY
TCICNPGYMGAICSDQIDECYSSPCLNDGRCIDLVNGYQCNCQPGTSGVNCEINFDDCASNPCIHGICMDGINRYSCVCSPGFTGQRCNI
DIDECASNPCRKGATCINGVNGFRCICPEGPHHPSCYSQVNECLSNPCIHGNCTGGLSGYKCLCDAGWVGINCEVDKNECLSNPCQNGGT
CDNLVNGYRCTCKKGFKGYNCQVNIDECASNPCLNQGTCFDDISGYTCHCVLPYTGKNCQTVLAPCSPNPCENAAVCKESPNFESYTCLC
APGWQGQRCTIDIDECISKPCMNHGLCHNTQGSYMCECPPGFSGMDCEEDIDDCLANPCQNGGSCMDGVNTFSCLCLPGFTGDKCQTDMN
ECLSEPCKNGGTCSDYVNSYTCKCQAGFDGVHCENNINECTESSCFNGGTCVDGINSFSCLCPVGFTGSFCLHEINECSSHPCLNEGTCV
DGLGTYRCSCPLGYTGKNCQTLVNLCSRSPCKNKGTCVQKKAESQCLCPSGWAGAYCDVPNVSCDIAASRRGVLVEHLCQHSGVCINAGN
THYCQCPLGYTGSYCEEQLDECASNPCQHGATCSDFIGGYRCECVPGYQGVNCEYEVDECQNQPCQNGGTCIDLVNHFKCSCPPGTRGLL
CEENIDDCARGPHCLNGGQCMDRIGGYSCRCLPGFAGERCEGDINECLSNPCSSEGSLDCIQLTNDYLCVCRSAFTGRHCETFVDVCPQM
PCLNGGTCAVASNMPDGFICRCPPGFSGARCQSSCGQVKCRKGEQCVHTASGPRCFCPSPRDCESGCASSPCQHGGSCHPQRQPPYYSCQ
CAPPFSGSRCELYTAPPSTPPATCLSQYCADKARDGVCDEACNSHACQWDGGDCSLTMENPWANCSSPLPCWDYINNQCDELCNTVECLF
DNFECQGNSKTCKYDKYCADHFKDNHCDQGCNSEECGWDGLDCAADQPENLAEGTLVIVVLMPPEQLLQDARSFLRALGTLLHTNLRIKR
DSQGELMVYPYYGEKSAAMKKQRMTRRSLPGEQEQEVAGSKVFLEIDNRQCVQDSDHCFKNTDAAAALLASHAIQGTLSYPLVSVVSESL
TPERTQLLYLLAVAVVIILFIILLGVIMAKRKRKHGSLWLPEGFTLRRDASNHKRREPVGQDAVGLKNLSVQVSEANLIGTGTSEHWVDD
EGPQPKKVKAEDEALLSEEDDPIDRRPWTQQHLEAADIRRTPSLALTPPQAEQEVDVLDVNVRGPDGCTPLMLASLRGGSSDLSDEDEDA
EDSSANIITDLVYQGASLQAQTDRTGEMALHLAARYSRADAAKRLLDAGADANAQDNMGRCPLHAAVAADAQGVFQILIRNRVTDLDARM
NDGTTPLILAARLAVEGMVAELINCQADVNAVDDHGKSALHWAAAVNNVEATLLLLKNGANRDMQDNKEETPLFLAAREGSYEAAKILLD
HFANRDITDHMDRLPRDVARDRMHHDIVRLLDEYNVTPSPPGTVLTSALSPVICGPNRSFLSLKHTPMGKKSRRPSAKSTMPTSLPNLAK
EAKDAKGSRRKKSLSEKVQLSESSVTLSPVDSLESPHTYVSDTTSSPMITSPGILQASPNPMLATAAPPAPVHAQHALSFSNLHEMQPLA
HGASTVLPSVSQLLSHHHIVSPGSGSAGSLSRLHPVPVPADWMNRMEVNETQYNEMFGMVLAPAEGTHPGIAPQSRPPEGKHITTPREPL
PPIVTFQLIPKGSIAQPAGAPQPQSTCPPAVAGPLPTMYQIPEMARLPSVAFPTAMMPQQDGQVAQTILPAYHPFPASVGKYPTPPSQHS

--------------------------------------------------------------

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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/chr22:26000420/chr1:120572610)
- 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
.NOTCH2

P0DPK3

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: Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (PubMed:29856955). {ECO:0000269|PubMed:29561261, ECO:0000269|PubMed:29856954, ECO:0000269|PubMed:29856955}.

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
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341645_164824.3333333333333322472.0Compositional biasNote=Poly-Ala
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341994_199724.3333333333333322472.0Compositional biasNote=Poly-Leu
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460342426_242924.3333333333333322472.0Compositional biasNote=Poly-Ser
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341025_106124.3333333333333322472.0DomainEGF-like 27%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034105_14324.3333333333333322472.0DomainEGF-like 3
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341063_109924.3333333333333322472.0DomainEGF-like 28
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341101_114724.3333333333333322472.0DomainEGF-like 29
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341149_118524.3333333333333322472.0DomainEGF-like 30%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341187_122324.3333333333333322472.0DomainEGF-like 31%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341225_126224.3333333333333322472.0DomainEGF-like 32%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341264_130224.3333333333333322472.0DomainEGF-like 33
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341304_134324.3333333333333322472.0DomainEGF-like 34
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341374_141224.3333333333333322472.0DomainEGF-like 35
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034144_18024.3333333333333322472.0DomainEGF-like 4
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034182_21924.3333333333333322472.0DomainEGF-like 5%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034221_25824.3333333333333322472.0DomainEGF-like 6
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034260_29624.3333333333333322472.0DomainEGF-like 7%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST0000025664603426_6324.3333333333333322472.0DomainEGF-like 1
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034298_33624.3333333333333322472.0DomainEGF-like 8%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034338_37424.3333333333333322472.0DomainEGF-like 9%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034375_41324.3333333333333322472.0DomainEGF-like 10
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034415_45424.3333333333333322472.0DomainEGF-like 11%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034456_49224.3333333333333322472.0DomainEGF-like 12%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034494_53024.3333333333333322472.0DomainEGF-like 13%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034532_56824.3333333333333322472.0DomainEGF-like 14%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034570_60524.3333333333333322472.0DomainEGF-like 15%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034607_64324.3333333333333322472.0DomainEGF-like 16%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034645_68024.3333333333333322472.0DomainEGF-like 17%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST0000025664603464_10224.3333333333333322472.0DomainEGF-like 2
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034682_71824.3333333333333322472.0DomainEGF-like 18%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034720_75524.3333333333333322472.0DomainEGF-like 19
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034757_79324.3333333333333322472.0DomainEGF-like 20%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034795_83124.3333333333333322472.0DomainEGF-like 21%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034833_87124.3333333333333322472.0DomainEGF-like 22
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034873_90924.3333333333333322472.0DomainEGF-like 23%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034911_94724.3333333333333322472.0DomainEGF-like 24%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034949_98524.3333333333333322472.0DomainEGF-like 25%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST00000256646034987_102324.3333333333333322472.0DomainEGF-like 26%3B calcium-binding
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341425_167724.3333333333333322472.0RegionNote=Negative regulatory region (NRR)
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341425_146524.3333333333333322472.0RepeatNote=LNR 1
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341466_150224.3333333333333322472.0RepeatNote=LNR 2
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341503_154424.3333333333333322472.0RepeatNote=LNR 3
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341827_187124.3333333333333322472.0RepeatNote=ANK 1
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341876_190524.3333333333333322472.0RepeatNote=ANK 2
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341909_193924.3333333333333322472.0RepeatNote=ANK 3
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341943_197224.3333333333333322472.0RepeatNote=ANK 4
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341976_200524.3333333333333322472.0RepeatNote=ANK 5
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460342009_203824.3333333333333322472.0RepeatNote=ANK 6
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341699_247124.3333333333333322472.0Topological domainCytoplasmic
TgeneNOTCH2chr22:26000420chr1:120572610ENST0000025664603426_167724.3333333333333322472.0Topological domainExtracellular
TgeneNOTCH2chr22:26000420chr1:120572610ENST000002566460341678_169824.3333333333333322472.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADRBK2chr22:26000420chr1:120572610ENST00000324198+221191_45363.333333333333336689.0DomainProtein kinase
HgeneADRBK2chr22:26000420chr1:120572610ENST00000324198+221454_52163.333333333333336689.0DomainAGC-kinase C-terminal
HgeneADRBK2chr22:26000420chr1:120572610ENST00000324198+22154_17563.333333333333336689.0DomainRGS
HgeneADRBK2chr22:26000420chr1:120572610ENST00000324198+221558_65263.333333333333336689.0DomainPH
HgeneADRBK2chr22:26000420chr1:120572610ENST00000324198+221197_20563.333333333333336689.0Nucleotide bindingATP
HgeneADRBK2chr22:26000420chr1:120572610ENST00000324198+2211_19063.333333333333336689.0RegionNote=N-terminal


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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
ADRBK2
NOTCH2


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 ADRBK2-NOTCH2


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 ADRBK2-NOTCH2


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