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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:G3BP2-PTPN1 (FusionGDB2 ID:31892)

Fusion Gene Summary for G3BP2-PTPN1

check button Fusion gene summary
Fusion gene informationFusion gene name: G3BP2-PTPN1
Fusion gene ID: 31892
HgeneTgene
Gene symbol

G3BP2

PTPN1

Gene ID

9908

5770

Gene nameG3BP stress granule assembly factor 2protein tyrosine phosphatase non-receptor type 1
Synonyms-PTP1B
Cytomap

4q21.1

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionras GTPase-activating protein-binding protein 2G3BP-2GAP SH3 domain-binding protein 2GTPase activating protein (SH3 domain) binding protein 2Ras-GTPase activating protein SH3 domain-binding protein 2tyrosine-protein phosphatase non-receptor type 1protein tyrosine phosphatase, placentalprotein-tyrosine phosphatase 1B
Modification date2020032720200329
UniProtAcc

Q9UN86

Q99952

Ensembl transtripts involved in fusion geneENST00000395719, ENST00000359707, 
ENST00000357854, ENST00000502654, 
ENST00000371621, ENST00000541713, 
Fusion gene scores* DoF score4 X 3 X 4=4814 X 14 X 5=980
# samples 419
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/980*10)=-2.36678233067162
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: G3BP2 [Title/Abstract] AND PTPN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointG3BP2(76649460)-PTPN1(49177900), # samples:2
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
TgenePTPN1

GO:0030100

regulation of endocytosis

21135139

TgenePTPN1

GO:0030968

endoplasmic reticulum unfolded protein response

22169477

TgenePTPN1

GO:0035335

peptidyl-tyrosine dephosphorylation

21135139

TgenePTPN1

GO:0061098

positive regulation of protein tyrosine kinase activity

21216966

TgenePTPN1

GO:1903898

negative regulation of PERK-mediated unfolded protein response

21216966


check buttonFusion gene breakpoints across G3BP2 (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 PTPN1 (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
ChimerDB4BRCATCGA-3C-AAAU-01AG3BP2chr4

76649460

-PTPN1chr20

49177900

+
ChimerDB4BRCATCGA-3C-AAAU-01AG3BP2chr4

76649460

-PTPN1chr20

49177900

+


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Fusion Gene ORF analysis for G3BP2-PTPN1

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-3CDSENST00000395719ENST00000371621G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-intronENST00000395719ENST00000541713G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-3CDSENST00000359707ENST00000371621G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-intronENST00000359707ENST00000541713G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-3CDSENST00000357854ENST00000371621G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-intronENST00000357854ENST00000541713G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-3CDSENST00000502654ENST00000371621G3BP2chr4

76649460

-PTPN1chr20

49177900

+
intron-intronENST00000502654ENST00000541713G3BP2chr4

76649460

-PTPN1chr20

49177900

+

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 G3BP2-PTPN1


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 G3BP2-PTPN1


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
G3BP2

Q9UN86

PTPN1

Q99952

FUNCTION: Scaffold protein that plays an essential role in cytoplasmic stress granule formation which acts as a platform for antiviral signaling. {ECO:0000269|PubMed:23279204}.FUNCTION: Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues.

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 G3BP2-PTPN1


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 G3BP2-PTPN1


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 G3BP2-PTPN1


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 G3BP2-PTPN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTPN1C0028754Obesity2CTD_human
TgenePTPN1C0019829Hodgkin Disease1CTD_human
TgenePTPN1C0020459Hyperinsulinism1CTD_human
TgenePTPN1C0020538Hypertensive disease1CTD_human
TgenePTPN1C0021368Inflammation1CTD_human
TgenePTPN1C0021655Insulin Resistance1CTD_human
TgenePTPN1C0023893Liver Cirrhosis, Experimental1CTD_human
TgenePTPN1C0025063Mediastinal Neoplasms1CTD_human
TgenePTPN1C0035372Rett Syndrome1CTD_human
TgenePTPN1C0036341Schizophrenia1PSYGENET
TgenePTPN1C0079731B-Cell Lymphomas1CTD_human
TgenePTPN1C0152266Mixed Cellularity Hodgkin Lymphoma1CTD_human
TgenePTPN1C0152267Hodgkin lymphoma, lymphocyte depletion1CTD_human
TgenePTPN1C0153504Malignant tumor of mediastinum1CTD_human
TgenePTPN1C0220597Adult Hodgkin Lymphoma1CTD_human
TgenePTPN1C0920563Insulin Sensitivity1CTD_human
TgenePTPN1C1257963Endogenous Hyperinsulinism1CTD_human
TgenePTPN1C1257964Exogenous Hyperinsulinism1CTD_human
TgenePTPN1C1257965Compensatory Hyperinsulinemia1CTD_human
TgenePTPN1C1266194Lymphocyte Rich Classical Hodgkin Lymphoma1CTD_human
TgenePTPN1C1334968Nodular Lymphocyte Predominant Hodgkin Lymphoma1CTD_human