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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:PTK2-UBE2H (FusionGDB2 ID:69617)

Fusion Gene Summary for PTK2-UBE2H

check button Fusion gene summary
Fusion gene informationFusion gene name: PTK2-UBE2H
Fusion gene ID: 69617
HgeneTgene
Gene symbol

PTK2

UBE2H

Gene ID

5747

7328

Gene nameprotein tyrosine kinase 2ubiquitin conjugating enzyme E2 H
SynonymsFADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAKE2-20K|GID3|UBC8|UBCH|UBCH2
Cytomap

8q24.3

7q32.2

Type of geneprotein-codingprotein-coding
Descriptionfocal 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 71ubiquitin-conjugating enzyme E2 H(E3-independent) E2 ubiquitin-conjugating enzyme HE2 ubiquitin-conjugating enzyme HGID complex subunit 3, UBC8 homologubiquitin carrier protein Hubiquitin conjugating enzyme E2Hubiquitin-conjugating enzyme E2-20Kubi
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000522684, ENST00000535192, 
ENST00000519465, ENST00000517887, 
ENST00000521059, ENST00000395218, 
ENST00000538769, ENST00000340930, 
ENST00000519419, ENST00000430260, 
ENST00000519881, ENST00000520892, 
ENST00000519635, ENST00000517712, 
ENST00000522950, ENST00000520151, 
ENST00000355621, ENST00000473814, 
Fusion gene scores* DoF score39 X 32 X 15=1872012 X 10 X 7=840
# samples 5714
** MAII scorelog2(57/18720*10)=-5.03747470541866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/840*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTK2 [Title/Abstract] AND UBE2H [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPTK2(142010979)-UBE2H(129479175), # samples:1
PTK2(142011224)-UBE2H(129479175), # samples:1
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
HgenePTK2

GO:0007179

transforming growth factor beta receptor signaling pathway

24036928

HgenePTK2

GO:0007229

integrin-mediated signaling pathway

24036928

HgenePTK2

GO:0010763

positive regulation of fibroblast migration

26763945

HgenePTK2

GO:0018108

peptidyl-tyrosine phosphorylation

10655584|11331870

HgenePTK2

GO:0022408

negative regulation of cell-cell adhesion

21703394

HgenePTK2

GO:0030335

positive regulation of cell migration

11331870|21703394

HgenePTK2

GO:0033628

regulation of cell adhesion mediated by integrin

10655584

HgenePTK2

GO:0046777

protein autophosphorylation

10655584|11331870

HgenePTK2

GO:0048013

ephrin receptor signaling pathway

10655584

HgenePTK2

GO:0060396

growth hormone receptor signaling pathway

10925297

HgenePTK2

GO:0090303

positive regulation of wound healing

26763945

TgeneUBE2H

GO:0070936

protein K48-linked ubiquitination

20061386

TgeneUBE2H

GO:0070979

protein K11-linked ubiquitination

20061386


check buttonFusion gene breakpoints across PTK2 (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 UBE2H (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
ChimerDB4LUSCTCGA-46-3767-01APTK2chr8

142010979

-UBE2Hchr7

129479175

-
ChimerDB4LUSCTCGA-46-3767-01APTK2chr8

142011224

-UBE2Hchr7

129479175

-


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Fusion Gene ORF analysis for PTK2-UBE2H

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-3CDSENST00000522684ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000522684ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000535192ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000535192ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519465ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519465ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517887ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517887ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000521059ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000521059ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000395218ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000395218ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000538769ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000538769ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000340930ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000340930ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519419ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519419ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000430260ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000430260ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519881ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519881ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000520892ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000520892ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519635ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519635ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517712ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517712ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000522950ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000522950ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000520151ENST00000355621PTK2chr8

142010979

-UBE2Hchr7

129479175

-
intron-3CDSENST00000520151ENST00000473814PTK2chr8

142010979

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000522684ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000522684ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000535192ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000535192ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519465ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519465ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517887ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517887ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000521059ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000521059ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000395218ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000395218ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000538769ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000538769ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000340930ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000340930ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519419ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519419ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000430260ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000430260ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000519881ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
5UTR-3CDSENST00000519881ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000520892ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000520892ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519635ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000519635ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517712ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000517712ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000522950ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000522950ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000520151ENST00000355621PTK2chr8

142011224

-UBE2Hchr7

129479175

-
intron-3CDSENST00000520151ENST00000473814PTK2chr8

142011224

-UBE2Hchr7

129479175

-

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 PTK2-UBE2H


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 PTK2-UBE2H


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
..
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: 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.
- 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 PTK2-UBE2H


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 PTK2-UBE2H


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 PTK2-UBE2H


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 PTK2-UBE2H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTK2C0004238Atrial Fibrillation2CTD_human
HgenePTK2C0007137Squamous cell carcinoma2CTD_human
HgenePTK2C0027626Neoplasm Invasiveness2CTD_human
HgenePTK2C0235480Paroxysmal atrial fibrillation2CTD_human
HgenePTK2C2585653Persistent atrial fibrillation2CTD_human
HgenePTK2C3468561familial atrial fibrillation2CTD_human
HgenePTK2C0003873Rheumatoid Arthritis1CTD_human
HgenePTK2C0007621Neoplastic Cell Transformation1CTD_human
HgenePTK2C0017636Glioblastoma1CTD_human
HgenePTK2C0024668Mammary Neoplasms, Experimental1CTD_human
HgenePTK2C0026640Mouth Neoplasms1CTD_human
HgenePTK2C0153381Malignant neoplasm of mouth1CTD_human
HgenePTK2C0334588Giant Cell Glioblastoma1CTD_human
HgenePTK2C1621958Glioblastoma Multiforme1CTD_human;UNIPROT
HgenePTK2C2239176Liver carcinoma1CTD_human
TgeneUBE2HC0004352Autistic Disorder1CTD_human
TgeneUBE2HC0032460Polycystic Ovary Syndrome1CTD_human
TgeneUBE2HC1136382Sclerocystic Ovaries1CTD_human