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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:PXN-MSI1 (FusionGDB2 ID:70470)

Fusion Gene Summary for PXN-MSI1

check button Fusion gene summary
Fusion gene informationFusion gene name: PXN-MSI1
Fusion gene ID: 70470
HgeneTgene
Gene symbol

PXN

MSI1

Gene ID

7837

4440

Gene nameperoxidasinmusashi RNA binding protein 1
SynonymsASGD7|COPOA|D2S448|D2S448E|MG50|PRG2|PXN|VPO-
Cytomap

2p25.3

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionperoxidasin homologmelanoma-associated antigen MG50p53-responsive gene 2 proteinvascular peroxidase 1RNA-binding protein Musashi homolog 1musashi-1musashi1
Modification date2020031320200313
UniProtAcc.

O43347

Ensembl transtripts involved in fusion geneENST00000458477, ENST00000228307, 
ENST00000424649, ENST00000397506, 
ENST00000536957, ENST00000267257, 
ENST00000538144, 
ENST00000257552, 
ENST00000546622, 
Fusion gene scores* DoF score12 X 7 X 12=10084 X 4 X 5=80
# samples 176
** MAII scorelog2(17/1008*10)=-2.56788898736222
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PXN [Title/Abstract] AND MSI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPXN(120659426)-MSI1(120780908), # samples:3
PXN(120703420)-MSI1(120802558), # samples:3
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
HgenePXN

GO:0030198

extracellular matrix organization

19590037

HgenePXN

GO:0042744

hydrogen peroxide catabolic process

18929642

HgenePXN

GO:0055114

oxidation-reduction process

18929642


check buttonFusion gene breakpoints across PXN (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 MSI1 (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
ChimerDB4HNSCTCGA-CV-7253-01APXNchr12

120659426

-MSI1chr12

120780908

-
ChimerDB4LUADTCGA-55-7570-01APXNchr12

120703420

-MSI1chr12

120802558

-
ChimerDB4HNSCTCGA-CV-7253PXNchr12

120659425

-MSI1chr12

120780908

-
ChimerDB4HNSCTCGA-CV-7253PXNchr12

120659426

-MSI1chr12

120780908

-
ChimerDB4LUADTCGA-55-7570-01APXNchr12

120703420

-MSI1chr12

120802558

-
ChimerDB4LUADTCGA-55-7570-01APXNchr12

120703420

-MSI1chr12

120802558

-
ChimerDB4HNSCTCGA-CV-7253-01APXNchr12

120659426

-MSI1chr12

120780908

-


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Fusion Gene ORF analysis for PXN-MSI1

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-3UTRENST00000458477ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-intronENST00000458477ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-3UTRENST00000228307ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-intronENST00000228307ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-3UTRENST00000424649ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-intronENST00000424649ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
intron-3UTRENST00000397506ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
intron-intronENST00000397506ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-3UTRENST00000536957ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-intronENST00000536957ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-3UTRENST00000267257ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
5CDS-intronENST00000267257ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
5UTR-3UTRENST00000538144ENST00000257552PXNchr12

120659426

-MSI1chr12

120780908

-
5UTR-intronENST00000538144ENST00000546622PXNchr12

120659426

-MSI1chr12

120780908

-
intron-3CDSENST00000458477ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
intron-intronENST00000458477ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
In-frameENST00000228307ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
5CDS-intronENST00000228307ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
In-frameENST00000424649ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
5CDS-intronENST00000424649ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
intron-3CDSENST00000397506ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
intron-intronENST00000397506ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
intron-3CDSENST00000536957ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
intron-intronENST00000536957ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
In-frameENST00000267257ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
5CDS-intronENST00000267257ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
intron-3CDSENST00000538144ENST00000257552PXNchr12

120703420

-MSI1chr12

120802558

-
intron-intronENST00000538144ENST00000546622PXNchr12

120703420

-MSI1chr12

120802558

-
5CDS-3UTRENST00000458477ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-intronENST00000458477ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-3UTRENST00000228307ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-intronENST00000228307ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-3UTRENST00000424649ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-intronENST00000424649ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-
intron-3UTRENST00000397506ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
intron-intronENST00000397506ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-3UTRENST00000536957ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-intronENST00000536957ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-3UTRENST00000267257ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
5CDS-intronENST00000267257ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-
5UTR-3UTRENST00000538144ENST00000257552PXNchr12

120659425

-MSI1chr12

120780908

-
5UTR-intronENST00000538144ENST00000546622PXNchr12

120659425

-MSI1chr12

120780908

-

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 PXN-MSI1


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 PXN-MSI1


check button Go to

FGviewer for the breakpoints of chr12:120703420-chr12:120802558

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MSI1

O43347

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: RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5'-GUUAGUUAGUUAGUU-3' and other sequences containing the pattern 5'-[GA]U(1-3)AGU-3'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (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
TgeneMSI1chr12:120703420chr12:120802558ENST00000257552315274_28189.0913.0Compositional biasNote=Poly-Ala
TgeneMSI1chr12:120703420chr12:120802558ENST00000257552315109_18689.0913.0DomainRRM 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePXNchr12:120703420chr12:120802558ENST00000228307-11246_534.333333333333333592.0Compositional biasNote=Pro-rich
HgenePXNchr12:120703420chr12:120802558ENST00000267257-11146_534.333333333333333606.0Compositional biasNote=Pro-rich
HgenePXNchr12:120703420chr12:120802558ENST00000424649-11146_534.333333333333333558.0Compositional biasNote=Pro-rich
HgenePXNchr12:120703420chr12:120802558ENST00000458477-11146_530425.0Compositional biasNote=Pro-rich
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112356_4154.333333333333333592.0DomainLIM zinc-binding 1
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112416_4734.333333333333333592.0DomainLIM zinc-binding 2
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112474_5334.333333333333333592.0DomainLIM zinc-binding 3
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112534_5914.333333333333333592.0DomainLIM zinc-binding 4
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111356_4154.333333333333333606.0DomainLIM zinc-binding 1
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111416_4734.333333333333333606.0DomainLIM zinc-binding 2
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111474_5334.333333333333333606.0DomainLIM zinc-binding 3
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111534_5914.333333333333333606.0DomainLIM zinc-binding 4
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111356_4154.333333333333333558.0DomainLIM zinc-binding 1
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111416_4734.333333333333333558.0DomainLIM zinc-binding 2
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111474_5334.333333333333333558.0DomainLIM zinc-binding 3
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111534_5914.333333333333333558.0DomainLIM zinc-binding 4
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111356_4150425.0DomainLIM zinc-binding 1
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111416_4730425.0DomainLIM zinc-binding 2
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111474_5330425.0DomainLIM zinc-binding 3
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111534_5910425.0DomainLIM zinc-binding 4
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112144_1564.333333333333333592.0MotifNote=LD motif 2
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112216_2284.333333333333333592.0MotifNote=LD motif 3
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112265_2764.333333333333333592.0MotifNote=LD motif 4
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112333_3454.333333333333333592.0MotifNote=LD motif 5
HgenePXNchr12:120703420chr12:120802558ENST00000228307-1123_154.333333333333333592.0MotifNote=LD motif 1
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111144_1564.333333333333333606.0MotifNote=LD motif 2
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111216_2284.333333333333333606.0MotifNote=LD motif 3
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111265_2764.333333333333333606.0MotifNote=LD motif 4
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111333_3454.333333333333333606.0MotifNote=LD motif 5
HgenePXNchr12:120703420chr12:120802558ENST00000267257-1113_154.333333333333333606.0MotifNote=LD motif 1
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111144_1564.333333333333333558.0MotifNote=LD motif 2
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111216_2284.333333333333333558.0MotifNote=LD motif 3
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111265_2764.333333333333333558.0MotifNote=LD motif 4
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111333_3454.333333333333333558.0MotifNote=LD motif 5
HgenePXNchr12:120703420chr12:120802558ENST00000424649-1113_154.333333333333333558.0MotifNote=LD motif 1
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111144_1560425.0MotifNote=LD motif 2
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111216_2280425.0MotifNote=LD motif 3
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111265_2760425.0MotifNote=LD motif 4
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111333_3450425.0MotifNote=LD motif 5
HgenePXNchr12:120703420chr12:120802558ENST00000458477-1113_150425.0MotifNote=LD motif 1
HgenePXNchr12:120703420chr12:120802558ENST00000228307-112262_3154.333333333333333592.0RegionRequired for binding to PARVA and ILK
HgenePXNchr12:120703420chr12:120802558ENST00000267257-111262_3154.333333333333333606.0RegionRequired for binding to PARVA and ILK
HgenePXNchr12:120703420chr12:120802558ENST00000424649-111262_3154.333333333333333558.0RegionRequired for binding to PARVA and ILK
HgenePXNchr12:120703420chr12:120802558ENST00000458477-111262_3150425.0RegionRequired for binding to PARVA and ILK
TgeneMSI1chr12:120703420chr12:120802558ENST0000025755231520_11089.0913.0DomainRRM 1


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Fusion Gene Sequence for PXN-MSI1


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 PXN-MSI1


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 PXN-MSI1


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 PXN-MSI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePXNC0004565Melanoma, B161CTD_human
HgenePXNC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgenePXNC0007621Neoplastic Cell Transformation1CTD_human
HgenePXNC0009075Melanoma, Cloudman S911CTD_human
HgenePXNC0018598Melanoma, Harding-Passey1CTD_human
HgenePXNC0025205Melanoma, Experimental1CTD_human
HgenePXNC0027627Neoplasm Metastasis1CTD_human