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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:EXT1-PTK2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EXT1-PTK2
FusionPDB ID: 28011
FusionGDB2.0 ID: 28011
HgeneTgene
Gene symbol

EXT1

PTK2

Gene ID

2131

5747

Gene nameexostosin glycosyltransferase 1protein tyrosine kinase 2
SynonymsEXT|LGCR|LGS|TRPS2|TTVFADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK
Cytomap

8q24.11

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionexostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylglucfocal adhesion kinase 1FADK 1FAK-related non-kinase polypeptidePTK2 protein tyrosine kinase 2focal adhesion kinase isoform FAK-Del33focal adhesion kinase-related nonkinaseprotein phosphatase 1 regulatory subunit 71
Modification date2020031320200327
UniProtAcc

Q16394

.
Ensembl transtripts involved in fusion geneENST idsENST00000378204, ENST00000430260, 
ENST00000517712, ENST00000519635, 
ENST00000519881, ENST00000520151, 
ENST00000520892, ENST00000522950, 
ENST00000340930, ENST00000395218, 
ENST00000517887, ENST00000519419, 
ENST00000521059, ENST00000522684, 
ENST00000535192, ENST00000538769, 
ENST00000519465, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 15 X 9=229519 X 20 X 13=4940
# samples 2329
** MAII scorelog2(23/2295*10)=-3.3187883873568
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/4940*10)=-4.09038623645711
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EXT1 [Title/Abstract] AND PTK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EXT1(118816961)-PTK2(141774389), # samples:2
Anticipated loss of major functional domain due to fusion event.EXT1-PTK2 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.
EXT1-PTK2 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.
EXT1-PTK2 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.
EXT1-PTK2 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.
EXT1-PTK2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
EXT1-PTK2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
EXT1-PTK2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
EXT1-PTK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
EXT1-PTK2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted 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
HgeneEXT1

GO:0006024

glycosaminoglycan biosynthetic process

12907669

HgeneEXT1

GO:0015012

heparan sulfate proteoglycan biosynthetic process

9620772|10639137

HgeneEXT1

GO:0033692

cellular polysaccharide biosynthetic process

12907669

TgenePTK2

GO:0007179

transforming growth factor beta receptor signaling pathway

24036928

TgenePTK2

GO:0007229

integrin-mediated signaling pathway

24036928

TgenePTK2

GO:0010763

positive regulation of fibroblast migration

26763945

TgenePTK2

GO:0018108

peptidyl-tyrosine phosphorylation

10655584|11331870

TgenePTK2

GO:0022408

negative regulation of cell-cell adhesion

21703394

TgenePTK2

GO:0030335

positive regulation of cell migration

11331870|21703394

TgenePTK2

GO:0033628

regulation of cell adhesion mediated by integrin

10655584

TgenePTK2

GO:0046777

protein autophosphorylation

10655584|11331870

TgenePTK2

GO:0048013

ephrin receptor signaling pathway

10655584

TgenePTK2

GO:0060396

growth hormone receptor signaling pathway

10925297

TgenePTK2

GO:0090303

positive regulation of wound healing

26763945


check buttonFusion gene breakpoints across EXT1 (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 PTK2 (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
ChimerDB4OVTCGA-59-2363-01AEXT1chr8

118816961

-PTK2chr8

141774389

-
ChimerDB4OVTCGA-59-2363EXT1chr8

118816960

-PTK2chr8

141774389

-


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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)
ENST00000378204EXT1chr8118816961-ENST00000519465PTK2chr8141774389-590828627683074768
ENST00000378204EXT1chr8118816960-ENST00000519465PTK2chr8141774389-590828627683074768

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
ENST00000378204ENST00000519465EXT1chr8118816961-PTK2chr8141774389-0.0015943150.99840575
ENST00000378204ENST00000519465EXT1chr8118816960-PTK2chr8141774389-0.0015943150.99840575

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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

>28011_28011_1_EXT1-PTK2_EXT1_chr8_118816960_ENST00000378204_PTK2_chr8_141774389_ENST00000519465_length(amino acids)=768AA_BP=
MCLFTILLTQAGHMQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSS
VHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLS
PQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIP
PLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRF
LEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKH
ISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKH
RWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYS
MVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQIEMAQKLLNSDLGELINKMKLA

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

>28011_28011_2_EXT1-PTK2_EXT1_chr8_118816961_ENST00000378204_PTK2_chr8_141774389_ENST00000519465_length(amino acids)=768AA_BP=
MCLFTILLTQAGHMQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSS
VHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLS
PQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIP
PLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRF
LEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKH
ISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKH
RWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYS
MVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQIEMAQKLLNSDLGELINKMKLA

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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/chr8:118816961/chr8:141774389)
- 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
EXT1

Q16394

.
FUNCTION: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). {ECO:0000269|PubMed:11518722, ECO:0000269|PubMed:22660413}.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
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-1011544_549685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-1011565_567685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-1011650_654685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-1011544_549685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-1011565_567685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-1011650_654685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-10111_7685.0747.0Topological domainCytoplasmic
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-10111_7685.0747.0Topological domainCytoplasmic
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-10118_28685.0747.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-10118_28685.0747.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgenePTK2chr8:118816960chr8:141774389ENST000003409301333712_733392.33333333333331066.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816960chr8:141774389ENST000003409301333863_913392.33333333333331066.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816960chr8:141774389ENST000005210591332712_733392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816960chr8:141774389ENST000005210591332863_913392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816960chr8:141774389ENST000005226841332712_733392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816960chr8:141774389ENST000005226841332863_913392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816961chr8:141774389ENST000003409301333712_733392.33333333333331066.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816961chr8:141774389ENST000003409301333863_913392.33333333333331066.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816961chr8:141774389ENST000005210591332712_733392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816961chr8:141774389ENST000005210591332863_913392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816961chr8:141774389ENST000005226841332712_733392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816961chr8:141774389ENST000005226841332863_913392.33333333333331053.0Compositional biasNote=Pro-rich
TgenePTK2chr8:118816960chr8:141774389ENST000003409301333422_680392.33333333333331066.0DomainProtein kinase
TgenePTK2chr8:118816960chr8:141774389ENST000005210591332422_680392.33333333333331053.0DomainProtein kinase
TgenePTK2chr8:118816960chr8:141774389ENST000005226841332422_680392.33333333333331053.0DomainProtein kinase
TgenePTK2chr8:118816961chr8:141774389ENST000003409301333422_680392.33333333333331066.0DomainProtein kinase
TgenePTK2chr8:118816961chr8:141774389ENST000005210591332422_680392.33333333333331053.0DomainProtein kinase
TgenePTK2chr8:118816961chr8:141774389ENST000005226841332422_680392.33333333333331053.0DomainProtein kinase
TgenePTK2chr8:118816960chr8:141774389ENST000003409301333428_434392.33333333333331066.0Nucleotide bindingATP
TgenePTK2chr8:118816960chr8:141774389ENST000003409301333500_502392.33333333333331066.0Nucleotide bindingATP
TgenePTK2chr8:118816960chr8:141774389ENST000005210591332428_434392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816960chr8:141774389ENST000005210591332500_502392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816960chr8:141774389ENST000005226841332428_434392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816960chr8:141774389ENST000005226841332500_502392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816961chr8:141774389ENST000003409301333428_434392.33333333333331066.0Nucleotide bindingATP
TgenePTK2chr8:118816961chr8:141774389ENST000003409301333500_502392.33333333333331066.0Nucleotide bindingATP
TgenePTK2chr8:118816961chr8:141774389ENST000005210591332428_434392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816961chr8:141774389ENST000005210591332500_502392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816961chr8:141774389ENST000005226841332428_434392.33333333333331053.0Nucleotide bindingATP
TgenePTK2chr8:118816961chr8:141774389ENST000005226841332500_502392.33333333333331053.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-1011688_701685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-1011688_701685.0747.0RegionSubstrate binding
HgeneEXT1chr8:118816960chr8:141774389ENST00000378204-101129_746685.0747.0Topological domainLumenal
HgeneEXT1chr8:118816961chr8:141774389ENST00000378204-101129_746685.0747.0Topological domainLumenal
TgenePTK2chr8:118816960chr8:141774389ENST00000340930133335_355392.33333333333331066.0DomainFERM
TgenePTK2chr8:118816960chr8:141774389ENST00000521059133235_355392.33333333333331053.0DomainFERM
TgenePTK2chr8:118816960chr8:141774389ENST00000522684133235_355392.33333333333331053.0DomainFERM
TgenePTK2chr8:118816961chr8:141774389ENST00000340930133335_355392.33333333333331066.0DomainFERM
TgenePTK2chr8:118816961chr8:141774389ENST00000521059133235_355392.33333333333331053.0DomainFERM
TgenePTK2chr8:118816961chr8:141774389ENST00000522684133235_355392.33333333333331053.0DomainFERM


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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
EXT1
PTK2


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 EXT1-PTK2


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 EXT1-PTK2


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