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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:NPTN-NDUFV2 (FusionGDB2 ID:60030)

Fusion Gene Summary for NPTN-NDUFV2

check button Fusion gene summary
Fusion gene informationFusion gene name: NPTN-NDUFV2
Fusion gene ID: 60030
HgeneTgene
Gene symbol

NPTN

NDUFV2

Gene ID

27020

4729

Gene nameneuroplastinNADH:ubiquinone oxidoreductase core subunit V2
SynonymsGP55|GP65|SDFR1|SDR1|np55|np65CI-24k|MC1DN7
Cytomap

15q24.1

18p11.22

Type of geneprotein-codingprotein-coding
DescriptionneuroplastinSDR-1stromal cell derived factor receptor 1stromal cell-derived receptor 1NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrialNADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDaNADH dehydrogenase ubiquinone flavoprotein 2, mitochondrialNADH-ubiquinone oxidoreductase 24 kDa subunitNADH-ubiquinone oxidoreductase fl
Modification date2020031320200313
UniProtAcc

Q9Y639

P19404

Ensembl transtripts involved in fusion geneENST00000287226, ENST00000345330, 
ENST00000351217, ENST00000542234, 
ENST00000545878, ENST00000562924, 
ENST00000563691, ENST00000564551, 
ENST00000318388, ENST00000497577, 
ENST00000400033, ENST00000465096, 
Fusion gene scores* DoF score11 X 10 X 7=7704 X 4 X 4=64
# samples 134
** MAII scorelog2(13/770*10)=-2.56634682255381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPTN [Title/Abstract] AND NDUFV2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNPTN(73893206)-NDUFV2(9102716), # 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

check buttonFusion gene breakpoints across NPTN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NDUFV2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/AFN117705NPTNchr15

73893206

+NDUFV2chr18

9102716

+


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Fusion Gene ORF analysis for NPTN-NDUFV2

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
intron-5UTRENST00000287226ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000287226ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000345330ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000345330ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000351217ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000351217ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000542234ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000542234ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000545878ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000545878ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000562924ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000562924ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000563691ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000563691ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000564551ENST00000318388NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-5UTRENST00000564551ENST00000497577NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000287226ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000287226ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000345330ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000345330ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000351217ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000351217ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000542234ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000542234ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000545878ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000545878ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000562924ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000562924ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000563691ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000563691ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000564551ENST00000400033NPTNchr15

73893206

+NDUFV2chr18

9102716

+
intron-intronENST00000564551ENST00000465096NPTNchr15

73893206

+NDUFV2chr18

9102716

+

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)

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

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Fusion Genomic Features for NPTN-NDUFV2


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.

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 NPTN-NDUFV2


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/:73893206/:9102716)
- 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
NPTN

Q9Y639

NDUFV2

P19404

FUNCTION: Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity). {ECO:0000250}.FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (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


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Fusion Gene Sequence for NPTN-NDUFV2


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.

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Fusion Gene PPI Analysis for NPTN-NDUFV2


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 NPTN-NDUFV2


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 NPTN-NDUFV2


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