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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: 29340

FusionGeneSummary for PTK2_ANGPT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTK2_ANGPT1
Fusion gene ID: 29340
HgeneTgene
Gene symbol

PTK2

ANGPT1

Gene ID

5747

284

Gene nameprotein tyrosine kinase 2angiopoietin 1
SynonymsFADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAKAGP1|AGPT|ANG1
Cytomap

8q24.3

8q23.1

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 71angiopoietin-1ANG-1
Modification date2018052720180519
UniProtAcc

Q05397

Q15389

Ensembl transtripts involved in fusion geneENST00000522684, ENST00000535192, 
ENST00000519465, ENST00000517887, 
ENST00000521059, ENST00000395218, 
ENST00000538769, ENST00000340930, 
ENST00000519419, ENST00000430260, 
ENST00000519881, ENST00000520892, 
ENST00000519635, ENST00000517712, 
ENST00000522950, ENST00000520151, 
ENST00000520052, ENST00000520734, 
ENST00000518386, 
Fusion gene scores* DoF score23 X 15 X 10=34507 X 4 X 6=168
# samples 257
** MAII scorelog2(25/3450*10)=-3.78659636189081
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTK2 [Title/Abstract] AND ANGPT1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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: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

TgeneANGPT1

GO:0001936

regulation of endothelial cell proliferation

8980223

TgeneANGPT1

GO:0002040

sprouting angiogenesis

9560344|10218485

TgeneANGPT1

GO:0002092

positive regulation of receptor internalization

19424712

TgeneANGPT1

GO:0007162

negative regulation of cell adhesion

19674970

TgeneANGPT1

GO:0007171

activation of transmembrane receptor protein tyrosine kinase activity

19424712

TgeneANGPT1

GO:0010595

positive regulation of endothelial cell migration

12958144

TgeneANGPT1

GO:0014842

regulation of skeletal muscle satellite cell proliferation

19733541

TgeneANGPT1

GO:0030210

heparin biosynthetic process

19297368

TgeneANGPT1

GO:0031398

positive regulation of protein ubiquitination

19689429

TgeneANGPT1

GO:0034394

protein localization to cell surface

19615361

TgeneANGPT1

GO:0043066

negative regulation of apoptotic process

10218485|12958144

TgeneANGPT1

GO:0043116

negative regulation of vascular permeability

14978158|19297368

TgeneANGPT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

9660821

TgeneANGPT1

GO:0048014

Tie signaling pathway

19689429|19922791

TgeneANGPT1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

15851516|19689429

TgeneANGPT1

GO:0050918

positive chemotaxis

9660821

TgeneANGPT1

GO:0051897

positive regulation of protein kinase B signaling

18425120|19615361

TgeneANGPT1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

18425120|19615361

TgeneANGPT1

GO:2000352

negative regulation of endothelial cell apoptotic process

19674970


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
TCGALDLUADTCGA-MP-A4SV-01APTK2chr8

142011224

-ANGPT1chr8

108509734

-
* 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
5UTR-intronENST00000522684ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000522684ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000522684ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000535192ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000535192ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000535192ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519465ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519465ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519465ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000517887ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000517887ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000517887ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000521059ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000521059ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000521059ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000395218ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000395218ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000395218ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000538769ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000538769ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000538769ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000340930ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000340930ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000340930ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519419ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519419ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519419ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000430260ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000430260ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000430260ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000519881ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000519881ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
5UTR-intronENST00000519881ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000520892ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000520892ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000520892ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519635ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519635ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000519635ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000517712ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000517712ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000517712ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000522950ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000522950ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000522950ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000520151ENST00000520052PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000520151ENST00000520734PTK2chr8

142011224

-ANGPT1chr8

108509734

-
intron-intronENST00000520151ENST00000518386PTK2chr8

142011224

-ANGPT1chr8

108509734

-

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FusionProtFeatures for PTK2_ANGPT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTK2

Q05397

ANGPT1

Q15389

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}. Binds and activates TEK/TIE2 receptor by inducing itsdimerization and tyrosine phosphorylation. Plays an important rolein the regulation of angiogenesis, endothelial cell survival,proliferation, migration, adhesion and cell spreading,reorganization of the actin cytoskeleton, but also maintenance ofvascular quiescence. Required for normal angiogenesis and heartdevelopment during embryogenesis. After birth, activates orinhibits angiogenesis, depending on the context. Inhibitsangiogenesis and promotes vascular stability in quiescent vessels,where endothelial cells have tight contacts. In quiescent vessels,ANGPT1 oligomers recruit TEK to cell-cell contacts, formingcomplexes with TEK molecules from adjoining cells, and this leadsto preferential activation of phosphatidylinositol 3-kinase andthe AKT1 signaling cascades. In migrating endothelial cells thatlack cell-cell adhesions, ANGT1 recruits TEK to contacts with theextracellular matrix, leading to the formation of focal adhesioncomplexes, activation of PTK2/FAK and of the downstream kinasesMAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation ofsprouting angiogenesis. Mediates blood vesselmaturation/stability. Implicated in endothelial developmentalprocesses later and distinct from that of VEGF. Appears to play acrucial role in mediating reciprocal interactions between theendothelium and surrounding matrix and mesenchyme.{ECO:0000269|PubMed:15284220, ECO:0000269|PubMed:18425119,ECO:0000269|PubMed:18425120, ECO:0000269|PubMed:9204896}.

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 PTK2_ANGPT1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PTK2_ANGPT1


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
PTK2IRS1, 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, TRIM25ANGPT1TEK, MAPK8IP2


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 PTK2_ANGPT1


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 PTK2_ANGPT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTK2C0007137Squamous cell carcinoma2CTD_human
HgenePTK2C0027626Neoplasm Invasiveness2CTD_human
HgenePTK2C0003873Rheumatoid Arthritis1CTD_human
HgenePTK2C0007621Neoplastic Cell Transformation1CTD_human
HgenePTK2C0017636Glioblastoma1CTD_human
HgenePTK2C0024668Mammary Neoplasms, Experimental1CTD_human
HgenePTK2C0026640Mouth Neoplasms1CTD_human
HgenePTK2C2239176Liver carcinoma1CTD_human
TgeneANGPT1C0016059Fibrosis2CTD_human
TgeneANGPT1C0020564Hypertrophy1CTD_human
TgeneANGPT1C0021368Inflammation1CTD_human
TgeneANGPT1C0243026Sepsis1CTD_human