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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:NPEPPS-GNGT2 (FusionGDB2 ID:59881)

Fusion Gene Summary for NPEPPS-GNGT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NPEPPS-GNGT2
Fusion gene ID: 59881
HgeneTgene
Gene symbol

NPEPPS

GNGT2

Gene ID

9520

2793

Gene nameaminopeptidase puromycin sensitiveG protein subunit gamma transducin 2
SynonymsAAP-S|MP100|PSAG-GAMMA-8|G-GAMMA-C|GNG8|GNG9|GNGT8
Cytomap

17q21.32

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionpuromycin-sensitive aminopeptidasecytosol alanyl aminopeptidasemetalloproteinase MP100guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2G protein cone gamma 8 subunitG-gamma-9g gamma-Cgamma-T2 subunitguanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2guanine nucleotide binding prot
Modification date2020031320200313
UniProtAcc

P55786

.
Ensembl transtripts involved in fusion geneENST00000525037, ENST00000322157, 
ENST00000530173, ENST00000544660, 
ENST00000503070, ENST00000300406, 
ENST00000507680, ENST00000511277, 
ENST00000511673, ENST00000515635, 
Fusion gene scores* DoF score18 X 9 X 9=14581 X 1 X 1=1
# samples 191
** MAII scorelog2(19/1458*10)=-2.93991939599599
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: NPEPPS [Title/Abstract] AND GNGT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNPEPPS(45646860)-GNGT2(47280394), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneNPEPPS

GO:0071456

cellular response to hypoxia

21056661


check buttonFusion gene breakpoints across NPEPPS (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 GNGT2 (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
ChimerDB4BRCATCGA-C8-A12T-01ANPEPPSchr17

45646860

+GNGT2chr17

47280394

-


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Fusion Gene ORF analysis for NPEPPS-GNGT2

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
3UTR-3CDSENST00000525037ENST00000503070NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
3UTR-intronENST00000525037ENST00000300406NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
3UTR-intronENST00000525037ENST00000507680NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
3UTR-intronENST00000525037ENST00000511277NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
3UTR-intronENST00000525037ENST00000511673NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
3UTR-intronENST00000525037ENST00000515635NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000322157ENST00000300406NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000322157ENST00000507680NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000322157ENST00000511277NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000322157ENST00000511673NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000322157ENST00000515635NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000530173ENST00000300406NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000530173ENST00000507680NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000530173ENST00000511277NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000530173ENST00000511673NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000530173ENST00000515635NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000544660ENST00000300406NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000544660ENST00000507680NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000544660ENST00000511277NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000544660ENST00000511673NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
5CDS-intronENST00000544660ENST00000515635NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
In-frameENST00000322157ENST00000503070NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
In-frameENST00000530173ENST00000503070NPEPPSchr17

45646860

+GNGT2chr17

47280394

-
In-frameENST00000544660ENST00000503070NPEPPSchr17

45646860

+GNGT2chr17

47280394

-

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)
ENST00000530173NPEPPSchr1745646860+ENST00000503070GNGT2chr1747280394-67843630512160
ENST00000322157NPEPPSchr1745646860+ENST00000503070GNGT2chr1747280394-89765566731221
ENST00000544660NPEPPSchr1745646860+ENST00000503070GNGT2chr1747280394-63439213468151

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
ENST00000530173ENST00000503070NPEPPSchr1745646860+GNGT2chr1747280394-0.023683340.97631663
ENST00000322157ENST00000503070NPEPPSchr1745646860+GNGT2chr1747280394-0.0042663850.9957337
ENST00000544660ENST00000503070NPEPPSchr1745646860+GNGT2chr1747280394-0.0126366940.9873633

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Fusion Genomic Features for NPEPPS-GNGT2


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 NPEPPS-GNGT2


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/chr17:45646860/chr17:47280394)
- 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
NPEPPS

P55786

.
FUNCTION: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain more efficiently than tau from Alzheimer disease brain. {ECO:0000269|PubMed:10978616, ECO:0000269|PubMed:11062501, ECO:0000269|PubMed:17154549, ECO:0000269|PubMed:17318184, ECO:0000269|PubMed:19917696}.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
HgeneNPEPPSchr17:45646860chr17:47280394ENST00000322157+323726_730139920.0MotifNuclear localization signal
HgeneNPEPPSchr17:45646860chr17:47280394ENST00000322157+323316_320139920.0RegionSubstrate binding


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Fusion Gene Sequence for NPEPPS-GNGT2


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.
>59881_59881_1_NPEPPS-GNGT2_NPEPPS_chr17_45646860_ENST00000322157_GNGT2_chr17_47280394_ENST00000503070_length(transcript)=897nt_BP=655nt
GGGCGCGCCCGGCCGGCGGGGCCGCGCACGCAGCCGCCGCCACCACTTCCCCCTCTCCCTCCCTCCTTGCGGGCCCTCCTCCCCTTCCCT
CCCCTCCGCCCCCTTCCCCGTAGGCAGCCCGCCCGCCAGTCCGCCCGCACCGCCTCCTTCCCAGCCCCTAGCGCTCCGGCTGGGTCTCTC
CCCCGCCCCCCAGGCTCCCCCGGTCGCTCTCCTCCGGCGGTCGCCCGCGCTCGGTGGATGTGGCTGGCAGCTGCCGCCCCCTCCCTCGCT
CGCCGCCTGCTCTTCCTCGGCCCTCCGCCTCCTCCCCTCCTCCTTCTCGTCTTCAGCCGCTCCTCTCGCCGCCGCCTCCACAGCCTGGGC
CTCGCCGCGATGCCGGAGAAGAGGCCCTTCGAGCGGCTGCCTGCCGATGTCTCCCCCATCAACTACAGCCTTTGCCTCAAGCCCGACTTG
CTGGACTTCACCTTCGAGGGCAAGCTGGAGGCCGCCGCCCAGGTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGATATTGAT
ATTATTACAGCTTCATATGCACCAGAAGGAGATGAAGAAATACATGCTACAGGATTTAACTATCAGAATGAAGATGAAAAAGTCACCTTG
TCTTTCCCTAGTACTCTGCAAACAGGACCCACATTTAACGCCTTACTTCTTTTGCTGGGAAGAGCTTCTTGGTTGGAGCTAACCTGGTCT
AGGACACCGTAGCTGCCTAGAAGACATCACATGAATCCATAGATGGTGGTGTTGGCAGGGAATACAAACTCAATTCCTGAATAAGTGCCT

>59881_59881_1_NPEPPS-GNGT2_NPEPPS_chr17_45646860_ENST00000322157_GNGT2_chr17_47280394_ENST00000503070_length(amino acids)=221AA_BP=28
MRALLPFPPLRPLPRRQPARQSARTASFPAPSAPAGSLPRPPGSPGRSPPAVARARWMWLAAAAPSLARRLLFLGPPPPPLLLLVFSRSS
RRRLHSLGLAAMPEKRPFERLPADVSPINYSLCLKPDLLDFTFEGKLEAAAQVRQATNQIVMNCADIDIITASYAPEGDEEIHATGFNYQ

--------------------------------------------------------------
>59881_59881_2_NPEPPS-GNGT2_NPEPPS_chr17_45646860_ENST00000530173_GNGT2_chr17_47280394_ENST00000503070_length(transcript)=678nt_BP=436nt
AAGTTACGGAAGAGTCAAGGCTGGGACCTCATGGCATCATTTTCCATGGATTGCTCTCCAAGTTTTTGTGTTCCTGGCCTTTGGAACCCC
TTCATCATATTCCGCAGCCGCTCCTCTCGCCGCCGCCTCCACAGCCTGGGCCTCGCCGCGATGCCGGAGAAGAGGCCCTTCGAGCGGCTG
CCTGCCGATGTCTCCCCCATCAACTACAGCCTTTGCCTCAAGCCCGACTTGCTGGACTTCACCTTCGAGGGCAAGCTGGAGGCCGCCGCC
CAGGTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGATATTGATATTATTACAGCTTCATATGCACCAGAAGGAGATGAAGAA
ATACATGCTACAGGATTTAACTATCAGAATGAAGATGAAAAAGTCACCTTGTCTTTCCCTAGTACTCTGCAAACAGGACCCACATTTAAC
GCCTTACTTCTTTTGCTGGGAAGAGCTTCTTGGTTGGAGCTAACCTGGTCTAGGACACCGTAGCTGCCTAGAAGACATCACATGAATCCA
TAGATGGTGGTGTTGGCAGGGAATACAAACTCAATTCCTGAATAAGTGCCTATTCCAGTGAGGACAATTCTGTGTCCCTTCCATTGACCT

>59881_59881_2_NPEPPS-GNGT2_NPEPPS_chr17_45646860_ENST00000530173_GNGT2_chr17_47280394_ENST00000503070_length(amino acids)=160AA_BP=135
MASFSMDCSPSFCVPGLWNPFIIFRSRSSRRRLHSLGLAAMPEKRPFERLPADVSPINYSLCLKPDLLDFTFEGKLEAAAQVRQATNQIV

--------------------------------------------------------------
>59881_59881_3_NPEPPS-GNGT2_NPEPPS_chr17_45646860_ENST00000544660_GNGT2_chr17_47280394_ENST00000503070_length(transcript)=634nt_BP=392nt
CCTCGCTCGCCGCCTGCTCTTCCTCGGCCCTCCGCCTCCTCCCCTCCTCCTTCTCGTCTTCAGCCGCTCCTCTCGCCGCCGCCTCCACAG
CCTGGGCCTCGCCGCGATGCCGGAGAAGAGGCCCTTCGAGCGGCTGCCTGCCGATGTCTCCCCCATCAACTACAGCCTTTGCCTCAAGCC
CGACTTGCTGGACTTCACCTTCGAGGGCAAGCTGGAGGCCGCCGCCCAGGTGAGGCAGGCGACTAATCAGATTGTGATGAATTGTGCTGA
TATTGATATTATTACAGCTTCATATGCACCAGAAGGAGATGAAGAAATACATGCTACAGGATTTAACTATCAGAATGAAGATGAAAAAGT
CACCTTGTCTTTCCCTAGTACTCTGCAAACAGGACCCACATTTAACGCCTTACTTCTTTTGCTGGGAAGAGCTTCTTGGTTGGAGCTAAC
CTGGTCTAGGACACCGTAGCTGCCTAGAAGACATCACATGAATCCATAGATGGTGGTGTTGGCAGGGAATACAAACTCAATTCCTGAATA
AGTGCCTATTCCAGTGAGGACAATTCTGTGTCCCTTCCATTGACCTGCCACCAGAGAACTGGATGGTTGCCTTGAGGTCTGGTACTGTAT

>59881_59881_3_NPEPPS-GNGT2_NPEPPS_chr17_45646860_ENST00000544660_GNGT2_chr17_47280394_ENST00000503070_length(amino acids)=151AA_BP=126
MLFLGPPPPPLLLLVFSRSSRRRLHSLGLAAMPEKRPFERLPADVSPINYSLCLKPDLLDFTFEGKLEAAAQVRQATNQIVMNCADIDII

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

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Fusion Gene PPI Analysis for NPEPPS-GNGT2


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 NPEPPS-GNGT2


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 NPEPPS-GNGT2


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