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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MSI2-PCTP

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MSI2-PCTP
FusionPDB ID: 55324
FusionGDB2.0 ID: 55324
HgeneTgene
Gene symbol

MSI2

PCTP

Gene ID

124540

58488

Gene namemusashi RNA binding protein 2phosphatidylcholine transfer protein
SynonymsMSI2HPC-TP|STARD2
Cytomap

17q22

17q22

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein Musashi homolog 2musashi homolog 2musashi-2phosphatidylcholine transfer proteinSTART domain-containing protein 2StAR-related lipid transfer (START) domain containing 2stAR-related lipid transfer protein 2
Modification date2020031320200313
UniProtAcc

Q96DH6

.
Ensembl transtripts involved in fusion geneENST idsENST00000284073, ENST00000322684, 
ENST00000416426, ENST00000442934, 
ENST00000579180, ENST00000579505, 
ENST00000325214, ENST00000268896, 
ENST00000576183, ENST00000576221, 
ENST00000573500, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score40 X 16 X 16=102409 X 7 X 5=315
# samples 4514
** MAII scorelog2(45/10240*10)=-4.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/315*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MSI2 [Title/Abstract] AND PCTP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MSI2(55339553)-PCTP(53844696), # samples:2
Anticipated loss of major functional domain due to fusion event.MSI2-PCTP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MSI2-PCTP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MSI2-PCTP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MSI2-PCTP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
TgenePCTP

GO:0015914

phospholipid transport

12055623


check buttonFusion gene breakpoints across MSI2 (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 PCTP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-D8-A27F-01AMSI2chr17

55339552

+PCTPchr17

53844695

+
ChimerDB4BRCATCGA-D8-A27F-01AMSI2chr17

55339553

-PCTPchr17

53844696

+
ChimerDB4BRCATCGA-D8-A27F-01AMSI2chr17

55339553

+PCTPchr17

53844696

+
ChimerDB4BRCATCGA-D8-A27FMSI2chr17

55339553

+PCTPchr17

53844695

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000416426MSI2chr1755339553+ENST00000573500PCTPchr1753844696+114938193899268
ENST00000284073MSI2chr1755339553+ENST00000573500PCTPchr1753844696+12895211791039286
ENST00000322684MSI2chr1755339553+ENST00000573500PCTPchr1753844696+110333535853272
ENST00000416426MSI2chr1755339553+ENST00000573500PCTPchr1753844695+114938193899268
ENST00000284073MSI2chr1755339553+ENST00000573500PCTPchr1753844695+12895211791039286
ENST00000322684MSI2chr1755339553+ENST00000573500PCTPchr1753844695+110333535853272
ENST00000416426MSI2chr1755339552+ENST00000573500PCTPchr1753844695+114938193899268
ENST00000284073MSI2chr1755339552+ENST00000573500PCTPchr1753844695+12895211791039286
ENST00000322684MSI2chr1755339552+ENST00000573500PCTPchr1753844695+110333535853272

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
ENST00000416426ENST00000573500MSI2chr1755339553+PCTPchr1753844696+0.0036356570.9963644
ENST00000284073ENST00000573500MSI2chr1755339553+PCTPchr1753844696+0.0061710480.99382895
ENST00000322684ENST00000573500MSI2chr1755339553+PCTPchr1753844696+0.0024788590.9975211
ENST00000416426ENST00000573500MSI2chr1755339553+PCTPchr1753844695+0.0036356570.9963644
ENST00000284073ENST00000573500MSI2chr1755339553+PCTPchr1753844695+0.0061710480.99382895
ENST00000322684ENST00000573500MSI2chr1755339553+PCTPchr1753844695+0.0024788590.9975211
ENST00000416426ENST00000573500MSI2chr1755339552+PCTPchr1753844695+0.0036356570.9963644
ENST00000284073ENST00000573500MSI2chr1755339552+PCTPchr1753844695+0.0061710480.99382895
ENST00000322684ENST00000573500MSI2chr1755339552+PCTPchr1753844695+0.0024788590.9975211

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>55324_55324_1_MSI2-PCTP_MSI2_chr17_55339552_ENST00000284073_PCTP_chr17_53844695_ENST00000573500_length(amino acids)=286AA_BP=114
MGVGGRGGSDMEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLG
QPHHELDSKTIDPKVAFPRRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRD
YVYLRQRRDLDMEGRKIHVILARSTSMPQLGERSGVIRVKQYKQSLAIESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNQSRTKREAQ

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

>55324_55324_2_MSI2-PCTP_MSI2_chr17_55339552_ENST00000322684_PCTP_chr17_53844695_ENST00000573500_length(amino acids)=272AA_BP=100
MADLTSVLTSVMFSPSSKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPK
VAFPRRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRDYVYLRQRRDLDMEG
RKIHVILARSTSMPQLGERSGVIRVKQYKQSLAIESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNQSRTKREAQNQRDLIKFLANPNI

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

>55324_55324_3_MSI2-PCTP_MSI2_chr17_55339552_ENST00000416426_PCTP_chr17_53844695_ENST00000573500_length(amino acids)=268AA_BP=96
MGRLGGRQRSARVKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFP
RRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRDYVYLRQRRDLDMEGRKIH

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

>55324_55324_4_MSI2-PCTP_MSI2_chr17_55339553_ENST00000284073_PCTP_chr17_53844695_ENST00000573500_length(amino acids)=286AA_BP=114
MGVGGRGGSDMEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLG
QPHHELDSKTIDPKVAFPRRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRD
YVYLRQRRDLDMEGRKIHVILARSTSMPQLGERSGVIRVKQYKQSLAIESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNQSRTKREAQ

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

>55324_55324_5_MSI2-PCTP_MSI2_chr17_55339553_ENST00000284073_PCTP_chr17_53844696_ENST00000573500_length(amino acids)=286AA_BP=114
MGVGGRGGSDMEANGSQGTSGSANDSQHDPGKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLG
QPHHELDSKTIDPKVAFPRRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRD
YVYLRQRRDLDMEGRKIHVILARSTSMPQLGERSGVIRVKQYKQSLAIESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNQSRTKREAQ

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

>55324_55324_6_MSI2-PCTP_MSI2_chr17_55339553_ENST00000322684_PCTP_chr17_53844695_ENST00000573500_length(amino acids)=272AA_BP=100
MADLTSVLTSVMFSPSSKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPK
VAFPRRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRDYVYLRQRRDLDMEG
RKIHVILARSTSMPQLGERSGVIRVKQYKQSLAIESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNQSRTKREAQNQRDLIKFLANPNI

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

>55324_55324_7_MSI2-PCTP_MSI2_chr17_55339553_ENST00000322684_PCTP_chr17_53844696_ENST00000573500_length(amino acids)=272AA_BP=100
MADLTSVLTSVMFSPSSKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPK
VAFPRRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRDYVYLRQRRDLDMEG
RKIHVILARSTSMPQLGERSGVIRVKQYKQSLAIESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNQSRTKREAQNQRDLIKFLANPNI

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

>55324_55324_8_MSI2-PCTP_MSI2_chr17_55339553_ENST00000416426_PCTP_chr17_53844695_ENST00000573500_length(amino acids)=268AA_BP=96
MGRLGGRQRSARVKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFP
RRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRDYVYLRQRRDLDMEGRKIH

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

>55324_55324_9_MSI2-PCTP_MSI2_chr17_55339553_ENST00000416426_PCTP_chr17_53844696_ENST00000573500_length(amino acids)=268AA_BP=96
MGRLGGRQRSARVKMFIGGLSWQTSPDSLRDYFSKFGEIRECMVMRDPTTKRSRGFGFVTFADPASVDKVLGQPHHELDSKTIDPKVAFP
RRAQPKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWEVKYPFPMSNRDYVYLRQRRDLDMEGRKIH

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

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Fusion Protein Functional Features


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/chr17:55339553/chr17:53844696)
- 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
MSI2

Q96DH6

.
FUNCTION: RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity). {ECO:0000250}.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.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgenePCTPchr17:55339552chr17:53844695ENST00000325214061_2120143.0DomainSTART
TgenePCTPchr17:55339553chr17:53844695ENST00000325214061_2120143.0DomainSTART
TgenePCTPchr17:55339553chr17:53844696ENST00000325214061_2120143.0DomainSTART

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMSI2chr17:55339552chr17:53844695ENST00000284073+514253_260104.01951.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339552chr17:53844695ENST00000322684+410253_260100.0252.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339552chr17:53844695ENST00000579180+17253_2600152.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339553chr17:53844695ENST00000284073+514253_260104.01951.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339553chr17:53844695ENST00000322684+410253_260100.0252.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339553chr17:53844695ENST00000579180+17253_2600152.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339553chr17:53844696ENST00000284073+514253_260104.01951.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339553chr17:53844696ENST00000322684+410253_260100.0252.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339553chr17:53844696ENST00000579180+17253_2600152.0Compositional biasNote=Poly-Ala
HgeneMSI2chr17:55339552chr17:53844695ENST00000284073+514110_187104.01951.0DomainRRM 2
HgeneMSI2chr17:55339552chr17:53844695ENST00000284073+51421_111104.01951.0DomainRRM 1
HgeneMSI2chr17:55339552chr17:53844695ENST00000322684+410110_187100.0252.0DomainRRM 2
HgeneMSI2chr17:55339552chr17:53844695ENST00000322684+41021_111100.0252.0DomainRRM 1
HgeneMSI2chr17:55339552chr17:53844695ENST00000579180+17110_1870152.0DomainRRM 2
HgeneMSI2chr17:55339552chr17:53844695ENST00000579180+1721_1110152.0DomainRRM 1
HgeneMSI2chr17:55339553chr17:53844695ENST00000284073+514110_187104.01951.0DomainRRM 2
HgeneMSI2chr17:55339553chr17:53844695ENST00000284073+51421_111104.01951.0DomainRRM 1
HgeneMSI2chr17:55339553chr17:53844695ENST00000322684+410110_187100.0252.0DomainRRM 2
HgeneMSI2chr17:55339553chr17:53844695ENST00000322684+41021_111100.0252.0DomainRRM 1
HgeneMSI2chr17:55339553chr17:53844695ENST00000579180+17110_1870152.0DomainRRM 2
HgeneMSI2chr17:55339553chr17:53844695ENST00000579180+1721_1110152.0DomainRRM 1
HgeneMSI2chr17:55339553chr17:53844696ENST00000284073+514110_187104.01951.0DomainRRM 2
HgeneMSI2chr17:55339553chr17:53844696ENST00000284073+51421_111104.01951.0DomainRRM 1
HgeneMSI2chr17:55339553chr17:53844696ENST00000322684+410110_187100.0252.0DomainRRM 2
HgeneMSI2chr17:55339553chr17:53844696ENST00000322684+41021_111100.0252.0DomainRRM 1
HgeneMSI2chr17:55339553chr17:53844696ENST00000579180+17110_1870152.0DomainRRM 2
HgeneMSI2chr17:55339553chr17:53844696ENST00000579180+1721_1110152.0DomainRRM 1
TgenePCTPchr17:55339552chr17:53844695ENST00000268896061_21247.0215.0DomainSTART
TgenePCTPchr17:55339553chr17:53844695ENST00000268896061_21247.0215.0DomainSTART
TgenePCTPchr17:55339553chr17:53844696ENST00000268896061_21247.0215.0DomainSTART


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MSI2
PCTP


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MSI2-PCTP


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MSI2-PCTP


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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