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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12327

FusionGeneSummary for EXT1_PTK2

check button Fusion gene summary
Fusion gene informationFusion gene name: EXT1_PTK2
Fusion gene ID: 12327
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 date2018052220180527
UniProtAcc

Q16394

Q05397

Ensembl transtripts involved in fusion geneENST00000378204, ENST00000522684, 
ENST00000535192, ENST00000519465, 
ENST00000517887, ENST00000521059, 
ENST00000395218, ENST00000538769, 
ENST00000340930, ENST00000519419, 
ENST00000430260, ENST00000519881, 
ENST00000520892, ENST00000519635, 
ENST00000517712, ENST00000522950, 
ENST00000520151, 
Fusion gene scores* DoF score11 X 8 X 12=10568 X 8 X 7=448
# samples 199
** MAII scorelog2(19/1056*10)=-2.47453851102751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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: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


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-59-2363-01AEXT1chr8

118816961

-PTK2chr8

141774389

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000378204ENST00000522684EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000535192EXT1chr8

118816961

-PTK2chr8

141774389

-
In-frameENST00000378204ENST00000519465EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000517887EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000521059EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000395218EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000538769EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000340930EXT1chr8

118816961

-PTK2chr8

141774389

-
Frame-shitENST00000378204ENST00000519419EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000430260EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000519881EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000520892EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000519635EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000517712EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000522950EXT1chr8

118816961

-PTK2chr8

141774389

-
5CDS-intronENST00000378204ENST00000520151EXT1chr8

118816961

-PTK2chr8

141774389

-

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FusionProtFeatures for EXT1_PTK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXT1

Q16394

PTK2

Q05397

Glycosyltransferase required for the biosynthesis ofheparan-sulfate. The EXT1/EXT2 complex possesses substantiallyhigher glycosyltransferase activity than EXT1 or EXT2 alone.Appears to be a tumor suppressor. Required for the exosomalrelease of SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:11518722, ECO:0000269|PubMed:22660413}. Non-receptor protein-tyrosine kinase that plays anessential role in regulating cell migration, adhesion, spreading,reorganization of the actin cytoskeleton, formation anddisassembly of focal adhesions and cell protrusions, cell cycleprogression, cell proliferation and apoptosis. Required for earlyembryonic development and placenta development. Required forembryonic angiogenesis, normal cardiomyocyte migration andproliferation, and normal heart development. Regulates axon growthand neuronal cell migration, axon branching and synapse formation;required for normal development of the nervous system. Plays arole in osteogenesis and differentiation of osteoblasts. Functionsin integrin signal transduction, but also in signaling downstreamof numerous growth factor receptors, G-protein coupled receptors(GPCR), EPHA2, netrin receptors and LDL receptors. Formsmultisubunit signaling complexes with SRC and SRC family membersupon activation; this leads to the phosphorylation of additionaltyrosine residues, creating binding sites for scaffold proteins,effectors and substrates. Regulates numerous signaling pathways.Promotes activation of phosphatidylinositol 3-kinase and the AKT1signaling cascade. Promotes activation of MAPK1/ERK2, MAPK3/ERK1and the MAP kinase signaling cascade. Promotes localized andtransient activation of guanine nucleotide exchange factors (GEFs)and GTPase-activating proteins (GAPs), and thereby modulates theactivity of Rho family GTPases. Signaling via CAS family membersmediates activation of RAC1. Recruits the ubiquitin ligase MDM2 toP53/TP53 in the nucleus, and thereby regulates P53/TP53 activity,P53/TP53 ubiquitination and proteasomal degradation.Phosphorylates SRC; this increases SRC kinase activity.Phosphorylates ACTN1, ARHGEF7, GRB7, RET and WASL. Promotesphosphorylation of PXN and STAT1; most likely PXN and STAT1 arephosphorylated by a SRC family kinase that is recruited toautophosphorylated PTK2/FAK1, rather than by PTK2/FAK1 itself.Promotes phosphorylation of BCAR1; GIT2 and SHC1; this requiresboth SRC and PTK2/FAK1. Promotes phosphorylation of BMX andPIK3R1. Isoform 6 (FRNK) does not contain a kinase domain andinhibits PTK2/FAK1 phosphorylation and signaling. Its enhancedexpression can attenuate the nuclear accumulation of LPXN andlimit its ability to enhance serum response factor (SRF)-dependentgene transcription. {ECO:0000269|PubMed:10655584,ECO:0000269|PubMed:11331870, ECO:0000269|PubMed:11980671,ECO:0000269|PubMed:15166238, ECO:0000269|PubMed:15561106,ECO:0000269|PubMed:15895076, ECO:0000269|PubMed:16919435,ECO:0000269|PubMed:16927379, ECO:0000269|PubMed:17395594,ECO:0000269|PubMed:17431114, ECO:0000269|PubMed:17968709,ECO:0000269|PubMed:18006843, ECO:0000269|PubMed:18206965,ECO:0000269|PubMed:18256281, ECO:0000269|PubMed:18292575,ECO:0000269|PubMed:18497331, ECO:0000269|PubMed:18677107,ECO:0000269|PubMed:19138410, ECO:0000269|PubMed:19147981,ECO:0000269|PubMed:19224453, ECO:0000269|PubMed:20332118,ECO:0000269|PubMed:20495381, ECO:0000269|PubMed:21454698}.

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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FusionGeneSequence for EXT1_PTK2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_EXT1_ENST00000378204_chr8_118816961_-_PTK2_ENST00000519465_chr8_141774389_-_685aa
MQAKKRTFILLSAGSCLALLFTFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHISPRQKRDANS
SIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQTVHNLRSKVQS
LHLWNNGRNHLIFNLTSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKR
YLTGIGSDTRNALTHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTETEKTDTREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEATFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPG
GLFVLPQTSSTLGDFPYYTANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKTT


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_EXT1_ENST00000378204_chr8_118816961_-_PTK2_ENST00000519465_chr8_141774389_-_2055nt
ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTGTTTTATTTCGGAGGCTTGCAGTTTAGGGCA
TCGAGGAGCCACAGCCGGAGAGAAGAACACAGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGAC
GCTCTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATTTCCCCCCGGCAGAAGCGAGATGCCAACTCC
AGCATCTACAAAGGCAAGAAGTGCCGCATGGAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCA
CAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGCTCCAGGTTCTACACCTCGGACCCCAGCCAG
GCGTGCCTCTTTGTCCTGAGTCTGGATACTTTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGT
CTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGGCCTGACTACACCGAGGACGTGGGGTTTGAC
ATCGGCCAGGCGATGCTGGCCAAAGCCAGCATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGAT
CATCCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGGAAGTACATGCTGGTATTCAAGGGGAAGAGG
TACCTGACAGGGATAGGATCAGACACCAGGAATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCAT
GGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAGAAGTATGATTATCGGGAAATGCTGCACAAT
GCCACTTTCTGTCTGGTTCCTCGTGGTCGCAGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAGGCTGCCTGCGTCCCTGTGATGCTC
AGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATAGGCGATGAGAGATTGTTATTACAGATTCCT
TCTACAATCAGGTCTATTCATCAGGATAAAATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAG
AAGATTGTATTAACTACACTAGAGATTATTCAGGACAGAATATTCAAGCACATATCACGTAACAGTTTAATATGGAACAAACATCCTGGA
GGATTGTTCGTACTACCACAGTATTCATCTTATCTGGGAGATTTTCCTTACTACTATGCTAATTTAGGTTTAAAGCCCCCCTCCAAATTC
ACTGCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTTCTCGTGGCTGCAGCCAAGTCCCAGTACTGT
GCCCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAA
GGAGAGAGCAAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTT
TCAACAACAGAGGTGGATTTCGCCTTCACAGTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGAT
AACTCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTGACAGGAGCTGCTATTTACCACAAATATTAT
CACTACCTATACTCCCATTACCTGCCAGCCAGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_EXT1_ENST00000378204_chr8_118816961_-_PTK2_ENST00000519465_chr8_141774389_-_4942nt
GTGTAAGTGTAACATTCAGAACCGGGTAACATTCGGCGACCGAACGCGGCGGTCGGCAGCGTTCGCGCGGGGGCCTGCGAAGCGCTGCTC
GGGGCCGGCACTGCCCGCGGGGAGGACGCGCCGCCGCCGCCACCCAGCGCCGCCGCCGCCGCCGCCTCCAGCCGGGCCGCCGCGCGTCCC
GGGGGCCGGCCCCGCGAGCGCAGGAGTAAACACCGCCGGAGTCTTGGAGCCGCTGCAGAAGGGAATAAAGAGAGATGCAGGGATTTGTGA
GGTTACGGCGCCCCAGCTGCAAGATGCACTAGCCGGCTGAACCCGGGATCGGCTGACTTGTTGGAACCGGAGTGCTCTGCACGGAGAGTG
GTGGATGAGTTGAAGTTGCCTTCCCGGGGCTCATTTTCCACGCTGCCGAGAGGAATCCGAGAGGCAAGGCAATCACTTCGTCTTGCCATT
GATTGGGTATCGGGAGCTTTTTTTTTCTCCCCTCTCTCTTTCTTTTCCTCCGTCTTGTTGCATGCAAGAAAATTACAGTCCGCTGCTCGC
CCGCCCTGGGTGCGAGATATTCAGCCCCGCTCTCTCCCGTGCATTGTGCAACCCAAAGATGAAAGACCGAAGGGGAGAAAGTTAAAGAAA
TCGCCCACATGCGCTGGATCAGTCCACGGCTTGGGGAAAGGCATCCAGAGAAGGTGGGAGCGGAGAGTTTGAAGTCTTTACAGGCGGGAA
GATGGCGGACTGGAGCTGAAAGTGTTGATTGGGAAACTTGGGTGATTCTTGTGTTTATTTACAATCCTCTTGACCCAGGCAGGACACATG
CAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTGTTTTATTTCGGAGGCTTGCAGTTTAGGGCATCG
AGGAGCCACAGCCGGAGAGAAGAACACAGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGACGCT
CTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATTTCCCCCCGGCAGAAGCGAGATGCCAACTCCAGC
ATCTACAAAGGCAAGAAGTGCCGCATGGAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCACAG
CAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGCTCCAGGTTCTACACCTCGGACCCCAGCCAGGCG
TGCCTCTTTGTCCTGAGTCTGGATACTTTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGTCTC
CACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGGCCTGACTACACCGAGGACGTGGGGTTTGACATC
GGCCAGGCGATGCTGGCCAAAGCCAGCATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGATCAT
CCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGGAAGTACATGCTGGTATTCAAGGGGAAGAGGTAC
CTGACAGGGATAGGATCAGACACCAGGAATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCATGGC
AAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAGAAGTATGATTATCGGGAAATGCTGCACAATGCC
ACTTTCTGTCTGGTTCCTCGTGGTCGCAGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAGGCTGCCTGCGTCCCTGTGATGCTCAGC
AATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATAGGCGATGAGAGATTGTTATTACAGATTCCTTCT
ACAATCAGGTCTATTCATCAGGATAAAATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAGAAG
ATTGTATTAACTACACTAGAGATTATTCAGGACAGAATATTCAAGCACATATCACGTAACAGTTTAATATGGAACAAACATCCTGGAGGA
TTGTTCGTACTACCACAGTATTCATCTTATCTGGGAGATTTTCCTTACTACTATGCTAATTTAGGTTTAAAGCCCCCCTCCAAATTCACT
GCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTTCTCGTGGCTGCAGCCAAGTCCCAGTACTGTGCC
CAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGA
GAGAGCAAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCA
ACAACAGAGGTGGATTTCGCCTTCACAGTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGATAAC
TCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTGACAGGAGCTGCTATTTACCACAAATATTATCAC
TACCTATACTCCCATTACCTGCCAGCCAGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTGGTG
TCTGCTGTGACAAAATTGCCTCCAATCAAAGTGACCCAGAAGAAGCAGTATAAGGAGACAATGATGGGACAGAGCCCTGTTTGCTCTCCG
ATAAACAAGTCTGTGTATTATAACGTATTGGACAATGATGTCACTTTTATTTCCATAAATGACTCATGTGTGAGCAAAATTTGAGTAATA
GTGTTTTAAGAATATTTCAGCGTAGTAGAGGATTTAAGCAGATCGCTTTGCCTACTTTAATTATATGAAATACCAGGAGGTCAGATGTTT
AACCTCTTTCAACATATCTGTTTCTTTTCCTGCAGAAACAGATGATTATGCTGAGATTATAGATGAAGAAGATACTTACACCATGCCCTC
AACCAGGGATTATGAGATTCAAAGAGAAAGAATAGAACTTGGACGATGTATTGGAGAAGGCCAATTTGGAGATGTACATCAAGGCATTTA
TATGAGTCCAGAGAATCCAGCTTTGGCGGTTGCAATTAAAACATGTAAAAACTGTACTTCGGACAGCGTGAGAGAGAAATTTCTTCAAGA
AGCCTTAACAATGCGTCAGTTTGACCATCCTCATATTGTGAAGCTGATTGGAGTCATCACAGAGAATCCTGTCTGGATAATCATGGAGCT
GTGCACACTTGGAGAGCTGAGGTCATTTTTGCAAGTAAGGAAATACAGTTTGGATCTAGCATCTTTGATCCTGTATGCCTATCAGCTTAG
TACAGCTCTTGCATATCTAGAGAGCAAAAGATTTGTACACAGGGACATTGCTGCTCGGAATGTTCTGGTGTCCTCAAATGATTGTGTAAA
ATTAGGAGACTTTGGATTATCCCGATATATGGAAGATAGTACTTACTACAAAGCTTCCAAAGGAAAATTGCCTATTAAATGGATGGCTCC
AGAGTCAATCAATTTTCGACGTTTTACCTCAGCTAGTGACGTATGGATGTTTGGTGTGTGTATGTGGGAGATACTGATGCATGGTGTGAA
GCCTTTTCAAGGAGTGAAGAACAATGATGTAATCGGTCGAATTGAAAATGGGGAAAGATTACCAATGCCTCCAAATTGTCCTCCTACCCT
CTACAGCCTTATGACGAAATGCTGGGCCTATGACCCCAGCAGGCGGCCCAGGTTTACTGAACTTAAAGCTCAGCTCAGCACAATCCTGGA
GGAAGAGAAGGCTCAGCAAGAAGAGCGCATGAGGATGGAGTCCAGAAGACAGGCCACAGTGTCCTGGGACTCCGGAGGGTCTGATGAAGC
ACCGCCCAAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCA
TTACCAGGTTTCTGGCTACCCTGGTTCACATGGAATCACAGCCATGGCTGGCAGCATCTATCCAGGTCAGGCATCTCTTTTGGACCAAAC
AGATTCATGGAATCATAGACCTCAGGAGATAGCAATGTGGCAGCCCAATGTGGAGGACTCTACAGTATTGGACCTGCGAGGGATTGGGCA
AGTGTTGCCAACCCATCTGATGGAAGAGCGTCTAATCCGACAGCAACAGGAAATGGAAGAAGATCAGCGCTGGCTGGAAAAAGAGGAAAG
ATTTCTGAAACCTGATGTGAGACTCTCTCGAGGCAGTATTGACAGGGAGGATGGAAGTCTTCAGGGTCCGATTGGAAACCAACATATATA
TCAGCCTGTGGGTAAACCAGATCCTGCAGCTCCACCAAAGAAACCGCCTCGCCCTGGAGCTCCCGGTCATCTGGGAAGCCTTGCCAGCCT
CAGCAGCCCTGCTGACAGCTACAACGAGGGTGTCAAGCTTCAGCCCCAGGAAATCAGCCCCCCTCCTACTGCCAACCTGGACCGGTCGAA
TGATAAGGTGTACGAGAATGTGACGGGCCTGGTGAAAGCTGTCATCGAGATGTCCAGTAAAATCCAGCCAGCCCCACCAGAGGAGTATGT
CCCTATGGTGAAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCG


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FusionGenePPI for EXT1_PTK2


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
EXT1CNTF, OSTF1, EXT1, EXT2, TRAP1, PEX19, SYNE4, PLAUR, PTCH1, ERGIC3, NAAA, SCGB2A2, B4GAT1, MPPE1, CRP, SYP, GAA, SLC39A5, TFR2, NRROS, TOR1AIP2, CD79B, FBXW7, NOTCH1PTK2IRS1, SOCS2, ATG12, TRIP6, BCAR1, CIB1, GIT1, DOCK1, SRC, CRK, PXN, ITGB5, ITGB3, MAPK8IP3, EGFR, GRB2, JAK2, SHC1, EZR, PTEN, STAT1, TGFB1I1, CCR5, GSK3B, CXCR4, BMX, TSC2, TSC1, PLCG1, IGF1R, PTPN11, EPHA2, ARHGAP26, ITGA4, NCK1, FGR, TLN1, GSN, AMPH, BIN1, FYN, YES1, NEDD9, STAT3, PPP1CB, PTK2, SYK, LYN, PIK3R1, RB1CC1, NCK2, GRB7, CSK, DCC, NEO1, GAPDH, PARP1, TP53, MDM2, RAC1, SOCS3, HES1, NASP, FBP1, F13A1, BBS10, NACAD, EEF1G, DDX39A, ZNF331, EPS8L2, LPXN, CBL, DAG1, ELAVL1, SH3KBP1, PDCD6IP, CTTN, ASAP1, PPP1CA, STAP2, STUB1, PTAFR, RBSN, APP, HSP90AA1, PTRH2, SAE1, SRPK1, TRIM72, UBE2H, IQGAP1, DEF6, OTUD6B, TRMT6, NTRK1, SELE, SH2D1A, DOK4, PTPN6, SH2D2A, HCK, PIK3R3, SH2D1B, PKD1, GNB1, GNG2, VPS16, ERBB2, CCNA1, PIAS1, RET, APC, TRIM15, ITGB1, ITGAV, PRKG1, SERPINB2, TEK, AKT1, CDH5, TRIM25


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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RelatedDrugs for EXT1_PTK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EXT1_PTK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEXT1C0015306Hereditary Multiple Exostoses8CTD_human;HPO;ORPHANET;UNIPROT
HgeneEXT1C0004352Autistic Disorder1CTD_human
HgeneEXT1C0008479Chondrosarcoma1CTD_human;HPO;ORPHANET;UNIPROT
TgenePTK2C0007137Squamous cell carcinoma2CTD_human
TgenePTK2C0027626Neoplasm Invasiveness2CTD_human
TgenePTK2C0003873Rheumatoid Arthritis1CTD_human
TgenePTK2C0007621Neoplastic Cell Transformation1CTD_human
TgenePTK2C0017636Glioblastoma1CTD_human
TgenePTK2C0024668Mammary Neoplasms, Experimental1CTD_human
TgenePTK2C0026640Mouth Neoplasms1CTD_human
TgenePTK2C2239176Liver carcinoma1CTD_human