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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:MAMSTR-NPTN (FusionGDB2 ID:51050)

Fusion Gene Summary for MAMSTR-NPTN

check button Fusion gene summary
Fusion gene informationFusion gene name: MAMSTR-NPTN
Fusion gene ID: 51050
HgeneTgene
Gene symbol

MAMSTR

NPTN

Gene ID

284358

27020

Gene nameMEF2 activating motif and SAP domain containing transcriptional regulatorneuroplastin
SynonymsMASTRGP55|GP65|SDFR1|SDR1|np55|np65
Cytomap

19q13.33

15q24.1

Type of geneprotein-codingprotein-coding
DescriptionMEF2-activating motif and SAP domain-containing transcriptional regulatorMEF2-activating SAP transcriptional regulatory proteinlikely ortholog of MEF2-activating SAP transcriptional regulatorneuroplastinSDR-1stromal cell derived factor receptor 1stromal cell-derived receptor 1
Modification date2020031320200313
UniProtAcc

Q6ZN01

Q9Y639

Ensembl transtripts involved in fusion geneENST00000318083, ENST00000356751, 
ENST00000377367, ENST00000419611, 
ENST00000594582, 		ENST00000287226, 
ENST00000345330, ENST00000351217, 
ENST00000542234, ENST00000545878, 
ENST00000562924, ENST00000563691, 
ENST00000564551, 
Fusion gene scores* DoF score4 X 4 X 4=647 X 7 X 4=196
# samples 49
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointMAMSTR(49220586)-NPTN(73852357), # 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 MAMSTR (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 NPTN (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/AAA687822MAMSTRchr19

49220586

+NPTNchr15

73852357

+


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Fusion Gene ORF analysis for MAMSTR-NPTN

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-intronENST00000318083ENST00000287226MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000345330MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000351217MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000542234MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000545878MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000562924MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000563691MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000318083ENST00000564551MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000287226MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000345330MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000351217MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000542234MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000545878MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000562924MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000563691MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000356751ENST00000564551MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000287226MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000345330MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000351217MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000542234MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000545878MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000562924MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000563691MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000377367ENST00000564551MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000287226MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000345330MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000351217MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000542234MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000545878MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000562924MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000563691MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000419611ENST00000564551MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000287226MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000345330MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000351217MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000542234MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000545878MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000562924MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000563691MAMSTRchr19

49220586

+NPTNchr15

73852357

+
intron-intronENST00000594582ENST00000564551MAMSTRchr19

49220586

+NPTNchr15

73852357

+

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 MAMSTR-NPTN


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 MAMSTR-NPTN


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/:49220586/:73852357)
- 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
MAMSTR

Q6ZN01

NPTN

Q9Y639

FUNCTION: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity). {ECO:0000250}.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}.

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 MAMSTR-NPTN


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 MAMSTR-NPTN


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 MAMSTR-NPTN


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 MAMSTR-NPTN


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