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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:NOTCH2-PSMA5 (FusionGDB2 ID:59767)

Fusion Gene Summary for NOTCH2-PSMA5

check button Fusion gene summary
Fusion gene informationFusion gene name: NOTCH2-PSMA5
Fusion gene ID: 59767
HgeneTgene
Gene symbol

NOTCH2

PSMA5

Gene ID

4853

5686

Gene namenotch receptor 2proteasome 20S subunit alpha 5
SynonymsAGS2|HJCYS|hN2PSC5|ZETA
Cytomap

1p12

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionneurogenic locus notch homolog protein 2Notch homolog 2notch 2proteasome subunit alpha type-5epididymis tissue sperm binding protein Li 11nmacropain subunit zetamacropain zeta chainmulticatalytic endopeptidase complex zeta chainproteasome (prosome, macropain) subunit, alpha type, 5proteasome alpha 5 subunitpr
Modification date2020032920200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000256646, ENST00000493703, 
ENST00000602566, 		ENST00000490870, 
ENST00000538610, ENST00000271308, 
Fusion gene scores* DoF score26 X 22 X 14=80087 X 6 X 4=168
# samples 358
** MAII scorelog2(35/8008*10)=-4.51601514700366
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOTCH2 [Title/Abstract] AND PSMA5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNOTCH2(120611948)-PSMA5(109964548), # samples:3
Anticipated loss of major functional domain due to fusion event.NOTCH2-PSMA5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NOTCH2-PSMA5 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
NOTCH2-PSMA5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NOTCH2-PSMA5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
NOTCH2-PSMA5 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
HgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

HgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

HgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

HgeneNOTCH2

GO:0010838

positive regulation of keratinocyte proliferation

18469519

HgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

HgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

HgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

HgeneNOTCH2

GO:2000249

regulation of actin cytoskeleton reorganization

18469519


check buttonFusion gene breakpoints across NOTCH2 (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 PSMA5 (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
ChimerDB4OVTCGA-36-1574-01ANOTCH2chr1

120611948

-PSMA5chr1

109957985

-
ChimerDB4OVTCGA-36-1574-01ANOTCH2chr1

120611948

-PSMA5chr1

109964548

-
ChimerDB4OVTCGA-36-1574NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
ChimerDB4OVTCGA-36-1574NOTCH2chr1

120611947

-PSMA5chr1

109964548

-


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Fusion Gene ORF analysis for NOTCH2-PSMA5

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-5UTRENST00000256646ENST00000490870NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
5CDS-5UTRENST00000256646ENST00000490870NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
5CDS-5UTRENST00000256646ENST00000490870NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
5CDS-5UTRENST00000256646ENST00000490870NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
5CDS-5UTRENST00000256646ENST00000538610NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
5CDS-5UTRENST00000256646ENST00000538610NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
5CDS-intronENST00000256646ENST00000538610NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
5CDS-intronENST00000256646ENST00000538610NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
Frame-shiftENST00000256646ENST00000271308NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
Frame-shiftENST00000256646ENST00000271308NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
In-frameENST00000256646ENST00000271308NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
In-frameENST00000256646ENST00000271308NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-3CDSENST00000493703ENST00000271308NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
intron-3CDSENST00000493703ENST00000271308NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
intron-3CDSENST00000493703ENST00000271308NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-3CDSENST00000493703ENST00000271308NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
intron-3CDSENST00000602566ENST00000271308NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
intron-3CDSENST00000602566ENST00000271308NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
intron-3CDSENST00000602566ENST00000271308NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-3CDSENST00000602566ENST00000271308NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
intron-5UTRENST00000493703ENST00000490870NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
intron-5UTRENST00000493703ENST00000490870NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
intron-5UTRENST00000493703ENST00000490870NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-5UTRENST00000493703ENST00000490870NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
intron-5UTRENST00000493703ENST00000538610NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
intron-5UTRENST00000493703ENST00000538610NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-5UTRENST00000602566ENST00000490870NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
intron-5UTRENST00000602566ENST00000490870NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
intron-5UTRENST00000602566ENST00000490870NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-5UTRENST00000602566ENST00000490870NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
intron-5UTRENST00000602566ENST00000538610NOTCH2chr1

120611948

-PSMA5chr1

109957985

-
intron-5UTRENST00000602566ENST00000538610NOTCH2chr1

120611947

-PSMA5chr1

109957985

-
intron-intronENST00000493703ENST00000538610NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
intron-intronENST00000493703ENST00000538610NOTCH2chr1

120611947

-PSMA5chr1

109964548

-
intron-intronENST00000602566ENST00000538610NOTCH2chr1

120611948

-PSMA5chr1

109964548

-
intron-intronENST00000602566ENST00000538610NOTCH2chr1

120611947

-PSMA5chr1

109964548

-

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)
ENST00000256646NOTCH2chr1120611947-ENST00000271308PSMA5chr1109957985-3905293173922249
ENST00000256646NOTCH2chr1120611948-ENST00000271308PSMA5chr1109957985-3905293173922249

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
ENST00000256646ENST00000271308NOTCH2chr1120611947-PSMA5chr1109957985-0.001253920.99874604
ENST00000256646ENST00000271308NOTCH2chr1120611948-PSMA5chr1109957985-0.001253920.99874604

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Fusion Genomic Features for NOTCH2-PSMA5


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.
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.

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Fusion Protein Features for NOTCH2-PSMA5


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/chr1:120611948/chr1:109964548)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341645_1648242472.0Compositional biasNote=Poly-Ala
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341994_1997242472.0Compositional biasNote=Poly-Leu
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1342426_2429242472.0Compositional biasNote=Poly-Ser
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341645_1648242472.0Compositional biasNote=Poly-Ala
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341994_1997242472.0Compositional biasNote=Poly-Leu
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1342426_2429242472.0Compositional biasNote=Poly-Ser
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341025_1061242472.0DomainEGF-like 27%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134105_143242472.0DomainEGF-like 3
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341063_1099242472.0DomainEGF-like 28
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341101_1147242472.0DomainEGF-like 29
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341149_1185242472.0DomainEGF-like 30%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341187_1223242472.0DomainEGF-like 31%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341225_1262242472.0DomainEGF-like 32%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341264_1302242472.0DomainEGF-like 33
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341304_1343242472.0DomainEGF-like 34
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341374_1412242472.0DomainEGF-like 35
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134144_180242472.0DomainEGF-like 4
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134182_219242472.0DomainEGF-like 5%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134221_258242472.0DomainEGF-like 6
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134260_296242472.0DomainEGF-like 7%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-13426_63242472.0DomainEGF-like 1
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134298_336242472.0DomainEGF-like 8%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134338_374242472.0DomainEGF-like 9%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134375_413242472.0DomainEGF-like 10
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134415_454242472.0DomainEGF-like 11%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134456_492242472.0DomainEGF-like 12%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134494_530242472.0DomainEGF-like 13%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134532_568242472.0DomainEGF-like 14%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134570_605242472.0DomainEGF-like 15%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134607_643242472.0DomainEGF-like 16%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134645_680242472.0DomainEGF-like 17%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-13464_102242472.0DomainEGF-like 2
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134682_718242472.0DomainEGF-like 18%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134720_755242472.0DomainEGF-like 19
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134757_793242472.0DomainEGF-like 20%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134795_831242472.0DomainEGF-like 21%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134833_871242472.0DomainEGF-like 22
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134873_909242472.0DomainEGF-like 23%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134911_947242472.0DomainEGF-like 24%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134949_985242472.0DomainEGF-like 25%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-134987_1023242472.0DomainEGF-like 26%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341025_1061242472.0DomainEGF-like 27%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134105_143242472.0DomainEGF-like 3
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341063_1099242472.0DomainEGF-like 28
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341101_1147242472.0DomainEGF-like 29
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341149_1185242472.0DomainEGF-like 30%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341187_1223242472.0DomainEGF-like 31%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341225_1262242472.0DomainEGF-like 32%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341264_1302242472.0DomainEGF-like 33
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341304_1343242472.0DomainEGF-like 34
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341374_1412242472.0DomainEGF-like 35
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134144_180242472.0DomainEGF-like 4
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134182_219242472.0DomainEGF-like 5%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134221_258242472.0DomainEGF-like 6
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134260_296242472.0DomainEGF-like 7%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-13426_63242472.0DomainEGF-like 1
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134298_336242472.0DomainEGF-like 8%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134338_374242472.0DomainEGF-like 9%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134375_413242472.0DomainEGF-like 10
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134415_454242472.0DomainEGF-like 11%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134456_492242472.0DomainEGF-like 12%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134494_530242472.0DomainEGF-like 13%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134532_568242472.0DomainEGF-like 14%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134570_605242472.0DomainEGF-like 15%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134607_643242472.0DomainEGF-like 16%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134645_680242472.0DomainEGF-like 17%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-13464_102242472.0DomainEGF-like 2
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134682_718242472.0DomainEGF-like 18%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134720_755242472.0DomainEGF-like 19
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134757_793242472.0DomainEGF-like 20%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134795_831242472.0DomainEGF-like 21%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134833_871242472.0DomainEGF-like 22
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134873_909242472.0DomainEGF-like 23%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134911_947242472.0DomainEGF-like 24%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134949_985242472.0DomainEGF-like 25%3B calcium-binding
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-134987_1023242472.0DomainEGF-like 26%3B calcium-binding
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341425_1677242472.0RegionNote=Negative regulatory region (NRR)
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341425_1677242472.0RegionNote=Negative regulatory region (NRR)
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341425_1465242472.0RepeatNote=LNR 1
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341466_1502242472.0RepeatNote=LNR 2
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341503_1544242472.0RepeatNote=LNR 3
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341827_1871242472.0RepeatNote=ANK 1
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341876_1905242472.0RepeatNote=ANK 2
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341909_1939242472.0RepeatNote=ANK 3
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341943_1972242472.0RepeatNote=ANK 4
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341976_2005242472.0RepeatNote=ANK 5
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1342009_2038242472.0RepeatNote=ANK 6
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341425_1465242472.0RepeatNote=LNR 1
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341466_1502242472.0RepeatNote=LNR 2
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341503_1544242472.0RepeatNote=LNR 3
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341827_1871242472.0RepeatNote=ANK 1
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341876_1905242472.0RepeatNote=ANK 2
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341909_1939242472.0RepeatNote=ANK 3
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341943_1972242472.0RepeatNote=ANK 4
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341976_2005242472.0RepeatNote=ANK 5
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1342009_2038242472.0RepeatNote=ANK 6
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341699_2471242472.0Topological domainCytoplasmic
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-13426_1677242472.0Topological domainExtracellular
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341699_2471242472.0Topological domainCytoplasmic
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-13426_1677242472.0Topological domainExtracellular
HgeneNOTCH2chr1:120611947chr1:109957985ENST00000256646-1341678_1698242472.0TransmembraneHelical
HgeneNOTCH2chr1:120611948chr1:109957985ENST00000256646-1341678_1698242472.0TransmembraneHelical


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Fusion Gene Sequence for NOTCH2-PSMA5


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.
>59767_59767_1_NOTCH2-PSMA5_NOTCH2_chr1_120611947_ENST00000256646_PSMA5_chr1_109957985_ENST00000271308_length(transcript)=3905nt_BP=293nt
AAACTTCGGGCGGCGGCTGAGGCGGCGGCCGAGGAGCGGCGGACTCGGGGCGCGGGGAGTCGAGGCATTTGCGCCTGGGCTTCGGAGCGT
AGCGCCAGGGCCTGAGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCA
GGCGGCGGCGGCGGCGGCGGAGGAGGAGGCGACCGAGAAGATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCT
GTGCTGCGCGGCCCCCGCGCATGCTTGGTTCTACAGCCATTGGGATCCAGACATCAGAGGGTGTGTGCCTAGCTGTGGAGAAGAGAATTA
CTTCCCCACTGATGGAGCCCAGCAGCATTGAGAAAATTGTAGAGATTGATGCTCACATAGGTTGTGCCATGAGTGGGCTAATTGCTGATG
CTAAGACTTTAATTGATAAAGCCAGAGTGGAGACACAGAACCACTGGTTCACCTACAATGAGACAATGACAGTGGAGAGTGTGACCCAAG
CTGTGTCCAATCTGGCTTTGCAGTTTGGAGAAGAAGATGCAGATCCAGGTGCCATGTCTCGTCCCTTTGGAGTAGCATTATTATTTGGAG
GAGTTGATGAGAAAGGACCCCAGCTGTTTCATATGGACCCATCTGGGACCTTTGTACAGTGTGATGCTCGAGCAATTGGCTCTGCTTCAG
AGGGTGCCCAGAGCTCCTTGCAAGAAGTTTACCACAAGTCTATGACTTTGAAAGAAGCCATCAAGTCTTCACTCATCATCCTCAAACAAG
TAATGGAGGAGAAGCTGAATGCAACAAACATTGAGCTAGCCACAGTGCAGCCTGGCCAGAATTTCCACATGTTCACAAAGGAAGAACTTG
AAGAGGTTATCAAGGACATTTAAGGAATCCTGATCCTCAGAACTTCTCTGGGACAATTTCAGTTCTAATAATGTCCTTAAATTTTATTTC
CAGCTCCTGTTCCTTGGAAAATCTCCATTGTATGTGCATTTTTTAAATGATGTCTGTACATAAAGGCAGTTCTGAAATAAAGAAAATTTT
AAAATATTTGTTAATAGACTGTTCTCTTCTAATAGTCTTTTTTTTTTTTTTTTTTTTAAGAGATGAGGTCTCACTATATTGCCCAGGCTG
GTTTCAAACTCCTGGGTTCAAGTGATCTTCCCGCCTCTGCCTCCTGAAGTGCTAGGATTATAGGCGAGAGCCACTGTGCCCAGCCATTGT
AATACAGTCTTTTGTTTGAAATGCAAATGTTAGTGGGCCAAAAGGACAGTGTTATTAATATCCCTATTCTATGAAGATGTCTGTTCTAAA
ACTGTTTTAGTGATGCTCTATAACAGAATCAACTATATCCATTAATCCCATGGTGTTGATAAATGAACTAGTCCAGCTCTTCCCAGTGGT
TAATAGATGTTAACAGCACTGTAAATCCATTTCGGCCCTATAATTTCTGGAGCAAACGTGTATTTTTGCTGCTTTTCTTATAAGGAGATG
CTACTAATTGACTATCAGAAGAACATGTTTTGAGGTCCTCCTCAAAACATTGATGGGTTGGAATCAGCCATCAACAGTGTTGTACCAGTT
CTTGGGTCTTGATAGACAATTTGGAAAGAGATTTCCTTGTTTACGAAGTGAAGGACTAAGAATTAAATTAATGACCTTGGCCTCACTGGC
AATCAATTACAAATCTCTATATCAGTAAGAGAATTGTAAAATTCAGAAGCAGTTTACATTAGACTTTGGAATGAATGATGAACTTTCCCC
ATTAGAGCTGCCATCATATGATTGGTGGAGATTGTTTAAAGAATCATTCTATCTCAGCCTCAAAAATTACCACGGGAAGATGGTATCAGT
ATCACTACTTAACAGATGAAGAATCTAATGCTGTGTGCCCATGGACACACAAAATTAAGCTGTTGGGACTTGAACAGCTCAAATTTTCTT
GTTTCAGATCACCAGCTCTTGAGTAATAGGGAAATCTGGAGATTTGAAAAGTACTTGCACTGTCCACAACATGGCTAATCCATATGTGGA
TGATGCAGAATTGATTTAATTCACTAACAGGGACCCCATAATTATTTGCTGGGCTCTGGGTATATTGATGTGTAGGAAGTTGTACTATAT
GTTAATAAATTATGACTATTTGGATAGGCTGAATTCATACTAAATCCATACTGTAGTTCAACAAAAAACAACATGTTTATATACATTTGG
AAACTGCAATGATAGGAAACATTTGGAAGAAAGGGATTTTGCCCTAGAATAACACATAAGGAAAGCAGAGAATTAGAGTATATTGTTACT
GAATGTTCCAGAGACTTCTAGTGATTTTAACACTTATTAAGTATAGCATGTTGATGGGGAGATTTGTTTCTCTAAAGATCACTTTGTTTT
ATTAAATCCTAATAGAAAATACCCTTGAAAATCCTATCTCATTTATTCCTGTAACAAATTTATTGAGCACCTACCTACTATATGCCAAGA
AATGTATTAGCCATCAGGCAGAGAGCTGTTCAAATGGTAGATATGATCTGTGCTCCTGTGAAACTTCTAGTGGGGAGAGCCAAACAATAA
ACAATATTCCTTTTTAACTCTAGGTTAATGCAGAAATGGATAAAGCCCATGTTGCTTTTGGGAGAGGTGAGTTGTGTCTCTGAATCACAT
GCATTTCATAGGGGGAAAAATGCCCAAATACTAAGGAGTAGCTCTTAGCCTATGTCCGTTCGCCTCAGCTTAAGTTGTTTTCCCTCCCAC
TGGCTGGGCAGCATATTTGTGTTTTACCTGGTAAAACAGTAAATTTCGTACCTTCTATAATTGGCATTCTTCAAAGAGGTAGAACTTTGA
TTTTTTTGTAGAATATTAAAACAAGCTTTCTTAGGTTAAAGAAGTGATCTTACTACGAACAGCAATGGTTTCATGATGTGTAATTGCTTT
ATGTTATCTTTCTGCTATAGAATGTTTCCTGGAGAAAGGTACGGTTTTTAGTAATAAGATAAATTTACTTTAGTCCTGCAAATAAGGTGA
AATCTTATGTCCAGTATCTCACAAAGGAGAACTGACAGTGCCACTTTTATATTTAATGTCAATCTCATTAGACAAAAATGAAATATAGTT
CCTAGGGTTTCCAATTTAAAAAGTGAAATAATAAATATATTCACTCAAACATTTTCTCAGTGCCATATGCAAGTTACCATGTCCCAGAAG
CTGATACAGTTTGAAGAAGGAAATATATAAGTACTGTAAGCCTGTGATAACTAAAAGCAACATACTAAAAAGTGAAGGTACAGATAATTG
GAACAAATTTAATAGCGTTTAAAAGTGTATTTGGTAATTTCTCCAGGAGGTGGCACTGTTGAGTTGTTTTTTCTTTTCAGACAGTAAGAC
AATAGACCATTCATCTTTGTGTCACCCAAACAAAGAAATATTCCTTTATAACCCCCTTTCCTCCCCCCACCTAATCACATGCTACTGGAA
CTGACTGTCTTGTGATCTACTCCCATAGTTGGCATAGATTTAAAAATAATCTTTTTTAAATTAATCTGATAGTAGTTATGGAAAGGAACA
AATTGTTCACCAATTTTCATCAGCTTTATCTTTTCAGTCCAGTAACTGAGAACTTAAAAAGACTATTCTAGTGATTTTACTATCCTGCTC
AGATGGCATTCAAAAACATTTTTCACTTCTCACGTCTTGGAAAAATTTGTAAATTCGTTAAGTCTTTTTGTTTGAAAGTTAATGTGACTG
GAAATATTTTAATGTAAATATCGGGTTGGGTGCATTGTATCATTTTGCTCTACAATGACTATATCCTCATTTGGGTTTATGGCCAGTTTA

>59767_59767_1_NOTCH2-PSMA5_NOTCH2_chr1_120611947_ENST00000256646_PSMA5_chr1_109957985_ENST00000271308_length(amino acids)=249AA_BP=40
MPRRRRRRRRRRRPRRCPPCAPLCCGRCWRSGCAARPPRMLGSTAIGIQTSEGVCLAVEKRITSPLMEPSSIEKIVEIDAHIGCAMSGLI
ADAKTLIDKARVETQNHWFTYNETMTVESVTQAVSNLALQFGEEDADPGAMSRPFGVALLFGGVDEKGPQLFHMDPSGTFVQCDARAIGS

--------------------------------------------------------------
>59767_59767_2_NOTCH2-PSMA5_NOTCH2_chr1_120611948_ENST00000256646_PSMA5_chr1_109957985_ENST00000271308_length(transcript)=3905nt_BP=293nt
AAACTTCGGGCGGCGGCTGAGGCGGCGGCCGAGGAGCGGCGGACTCGGGGCGCGGGGAGTCGAGGCATTTGCGCCTGGGCTTCGGAGCGT
AGCGCCAGGGCCTGAGCCTTTGAAGCAGGAGGAGGGGAGGAGAGAGTGGGGCTCCTCTATCGGGACCCCCTCCCCATGTGGATCTGCCCA
GGCGGCGGCGGCGGCGGCGGAGGAGGAGGCGACCGAGAAGATGCCCGCCCTGCGCCCCGCTCTGCTGTGGGCGCTGCTGGCGCTCTGGCT
GTGCTGCGCGGCCCCCGCGCATGCTTGGTTCTACAGCCATTGGGATCCAGACATCAGAGGGTGTGTGCCTAGCTGTGGAGAAGAGAATTA
CTTCCCCACTGATGGAGCCCAGCAGCATTGAGAAAATTGTAGAGATTGATGCTCACATAGGTTGTGCCATGAGTGGGCTAATTGCTGATG
CTAAGACTTTAATTGATAAAGCCAGAGTGGAGACACAGAACCACTGGTTCACCTACAATGAGACAATGACAGTGGAGAGTGTGACCCAAG
CTGTGTCCAATCTGGCTTTGCAGTTTGGAGAAGAAGATGCAGATCCAGGTGCCATGTCTCGTCCCTTTGGAGTAGCATTATTATTTGGAG
GAGTTGATGAGAAAGGACCCCAGCTGTTTCATATGGACCCATCTGGGACCTTTGTACAGTGTGATGCTCGAGCAATTGGCTCTGCTTCAG
AGGGTGCCCAGAGCTCCTTGCAAGAAGTTTACCACAAGTCTATGACTTTGAAAGAAGCCATCAAGTCTTCACTCATCATCCTCAAACAAG
TAATGGAGGAGAAGCTGAATGCAACAAACATTGAGCTAGCCACAGTGCAGCCTGGCCAGAATTTCCACATGTTCACAAAGGAAGAACTTG
AAGAGGTTATCAAGGACATTTAAGGAATCCTGATCCTCAGAACTTCTCTGGGACAATTTCAGTTCTAATAATGTCCTTAAATTTTATTTC
CAGCTCCTGTTCCTTGGAAAATCTCCATTGTATGTGCATTTTTTAAATGATGTCTGTACATAAAGGCAGTTCTGAAATAAAGAAAATTTT
AAAATATTTGTTAATAGACTGTTCTCTTCTAATAGTCTTTTTTTTTTTTTTTTTTTTAAGAGATGAGGTCTCACTATATTGCCCAGGCTG
GTTTCAAACTCCTGGGTTCAAGTGATCTTCCCGCCTCTGCCTCCTGAAGTGCTAGGATTATAGGCGAGAGCCACTGTGCCCAGCCATTGT
AATACAGTCTTTTGTTTGAAATGCAAATGTTAGTGGGCCAAAAGGACAGTGTTATTAATATCCCTATTCTATGAAGATGTCTGTTCTAAA
ACTGTTTTAGTGATGCTCTATAACAGAATCAACTATATCCATTAATCCCATGGTGTTGATAAATGAACTAGTCCAGCTCTTCCCAGTGGT
TAATAGATGTTAACAGCACTGTAAATCCATTTCGGCCCTATAATTTCTGGAGCAAACGTGTATTTTTGCTGCTTTTCTTATAAGGAGATG
CTACTAATTGACTATCAGAAGAACATGTTTTGAGGTCCTCCTCAAAACATTGATGGGTTGGAATCAGCCATCAACAGTGTTGTACCAGTT
CTTGGGTCTTGATAGACAATTTGGAAAGAGATTTCCTTGTTTACGAAGTGAAGGACTAAGAATTAAATTAATGACCTTGGCCTCACTGGC
AATCAATTACAAATCTCTATATCAGTAAGAGAATTGTAAAATTCAGAAGCAGTTTACATTAGACTTTGGAATGAATGATGAACTTTCCCC
ATTAGAGCTGCCATCATATGATTGGTGGAGATTGTTTAAAGAATCATTCTATCTCAGCCTCAAAAATTACCACGGGAAGATGGTATCAGT
ATCACTACTTAACAGATGAAGAATCTAATGCTGTGTGCCCATGGACACACAAAATTAAGCTGTTGGGACTTGAACAGCTCAAATTTTCTT
GTTTCAGATCACCAGCTCTTGAGTAATAGGGAAATCTGGAGATTTGAAAAGTACTTGCACTGTCCACAACATGGCTAATCCATATGTGGA
TGATGCAGAATTGATTTAATTCACTAACAGGGACCCCATAATTATTTGCTGGGCTCTGGGTATATTGATGTGTAGGAAGTTGTACTATAT
GTTAATAAATTATGACTATTTGGATAGGCTGAATTCATACTAAATCCATACTGTAGTTCAACAAAAAACAACATGTTTATATACATTTGG
AAACTGCAATGATAGGAAACATTTGGAAGAAAGGGATTTTGCCCTAGAATAACACATAAGGAAAGCAGAGAATTAGAGTATATTGTTACT
GAATGTTCCAGAGACTTCTAGTGATTTTAACACTTATTAAGTATAGCATGTTGATGGGGAGATTTGTTTCTCTAAAGATCACTTTGTTTT
ATTAAATCCTAATAGAAAATACCCTTGAAAATCCTATCTCATTTATTCCTGTAACAAATTTATTGAGCACCTACCTACTATATGCCAAGA
AATGTATTAGCCATCAGGCAGAGAGCTGTTCAAATGGTAGATATGATCTGTGCTCCTGTGAAACTTCTAGTGGGGAGAGCCAAACAATAA
ACAATATTCCTTTTTAACTCTAGGTTAATGCAGAAATGGATAAAGCCCATGTTGCTTTTGGGAGAGGTGAGTTGTGTCTCTGAATCACAT
GCATTTCATAGGGGGAAAAATGCCCAAATACTAAGGAGTAGCTCTTAGCCTATGTCCGTTCGCCTCAGCTTAAGTTGTTTTCCCTCCCAC
TGGCTGGGCAGCATATTTGTGTTTTACCTGGTAAAACAGTAAATTTCGTACCTTCTATAATTGGCATTCTTCAAAGAGGTAGAACTTTGA
TTTTTTTGTAGAATATTAAAACAAGCTTTCTTAGGTTAAAGAAGTGATCTTACTACGAACAGCAATGGTTTCATGATGTGTAATTGCTTT
ATGTTATCTTTCTGCTATAGAATGTTTCCTGGAGAAAGGTACGGTTTTTAGTAATAAGATAAATTTACTTTAGTCCTGCAAATAAGGTGA
AATCTTATGTCCAGTATCTCACAAAGGAGAACTGACAGTGCCACTTTTATATTTAATGTCAATCTCATTAGACAAAAATGAAATATAGTT
CCTAGGGTTTCCAATTTAAAAAGTGAAATAATAAATATATTCACTCAAACATTTTCTCAGTGCCATATGCAAGTTACCATGTCCCAGAAG
CTGATACAGTTTGAAGAAGGAAATATATAAGTACTGTAAGCCTGTGATAACTAAAAGCAACATACTAAAAAGTGAAGGTACAGATAATTG
GAACAAATTTAATAGCGTTTAAAAGTGTATTTGGTAATTTCTCCAGGAGGTGGCACTGTTGAGTTGTTTTTTCTTTTCAGACAGTAAGAC
AATAGACCATTCATCTTTGTGTCACCCAAACAAAGAAATATTCCTTTATAACCCCCTTTCCTCCCCCCACCTAATCACATGCTACTGGAA
CTGACTGTCTTGTGATCTACTCCCATAGTTGGCATAGATTTAAAAATAATCTTTTTTAAATTAATCTGATAGTAGTTATGGAAAGGAACA
AATTGTTCACCAATTTTCATCAGCTTTATCTTTTCAGTCCAGTAACTGAGAACTTAAAAAGACTATTCTAGTGATTTTACTATCCTGCTC
AGATGGCATTCAAAAACATTTTTCACTTCTCACGTCTTGGAAAAATTTGTAAATTCGTTAAGTCTTTTTGTTTGAAAGTTAATGTGACTG
GAAATATTTTAATGTAAATATCGGGTTGGGTGCATTGTATCATTTTGCTCTACAATGACTATATCCTCATTTGGGTTTATGGCCAGTTTA

>59767_59767_2_NOTCH2-PSMA5_NOTCH2_chr1_120611948_ENST00000256646_PSMA5_chr1_109957985_ENST00000271308_length(amino acids)=249AA_BP=40
MPRRRRRRRRRRRPRRCPPCAPLCCGRCWRSGCAARPPRMLGSTAIGIQTSEGVCLAVEKRITSPLMEPSSIEKIVEIDAHIGCAMSGLI
ADAKTLIDKARVETQNHWFTYNETMTVESVTQAVSNLALQFGEEDADPGAMSRPFGVALLFGGVDEKGPQLFHMDPSGTFVQCDARAIGS

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

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Fusion Gene PPI Analysis for NOTCH2-PSMA5


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 NOTCH2-PSMA5


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 NOTCH2-PSMA5


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