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Fusion gene ID: 29359 |
FusionGeneSummary for PTK2_UBE2H |
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Fusion gene information | Fusion gene name: PTK2_UBE2H | Fusion gene ID: 29359 | Hgene | Tgene | Gene symbol | PTK2 | UBE2H | Gene ID | 5747 | 7328 |
Gene name | protein tyrosine kinase 2 | ubiquitin conjugating enzyme E2 H | |
Synonyms | FADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK | E2-20K|GID3|UBC8|UBCH|UBCH2 | |
Cytomap | 8q24.3 | 7q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | focal 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 | ubiquitin-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 date | 20180527 | 20180523 | |
UniProtAcc | Q05397 | P62256 | |
Ensembl transtripts involved in fusion gene | ENST00000522684, ENST00000535192, ENST00000519465, ENST00000517887, ENST00000521059, ENST00000395218, ENST00000538769, ENST00000340930, ENST00000519419, ENST00000430260, ENST00000519881, ENST00000520892, ENST00000519635, ENST00000517712, ENST00000522950, ENST00000520151, | ENST00000355621, ENST00000473814, | |
Fusion gene scores | * DoF score | 23 X 15 X 10=3450 | 7 X 8 X 4=224 |
# samples | 25 | 10 | |
** MAII score | log2(25/3450*10)=-3.78659636189081 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/224*10)=-1.16349873228288 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] | ||
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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PTK2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 24036928 |
Hgene | PTK2 | GO:0007229 | integrin-mediated signaling pathway | 24036928 |
Hgene | PTK2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 10655584|11331870 |
Hgene | PTK2 | GO:0022408 | negative regulation of cell-cell adhesion | 21703394 |
Hgene | PTK2 | GO:0030335 | positive regulation of cell migration | 11331870|21703394 |
Hgene | PTK2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
Hgene | PTK2 | GO:0046777 | protein autophosphorylation | 10655584|11331870 |
Hgene | PTK2 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
Hgene | PTK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
Tgene | UBE2H | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
Tgene | UBE2H | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUSC | TCGA-46-3767-01A | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
TCGA | LD | LUSC | TCGA-46-3767-01A | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000522684 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000522684 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000535192 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000535192 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519465 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519465 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517887 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517887 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000521059 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000521059 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000395218 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000395218 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000538769 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000538769 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000340930 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000340930 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519419 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519419 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000430260 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000430260 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000519881 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000519881 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000520892 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000520892 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519635 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519635 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517712 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517712 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000522950 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000522950 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000520151 | ENST00000355621 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000520151 | ENST00000473814 | PTK2 | chr8 | 142011224 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000522684 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000522684 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000535192 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000535192 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519465 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519465 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517887 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517887 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000521059 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000521059 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000395218 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000395218 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000538769 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000538769 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000340930 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000340930 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519419 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519419 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000430260 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000430260 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519881 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519881 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000520892 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
5UTR-3CDS | ENST00000520892 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519635 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000519635 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517712 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000517712 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000522950 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000522950 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000520151 | ENST00000355621 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
intron-3CDS | ENST00000520151 | ENST00000473814 | PTK2 | chr8 | 142010979 | - | UBE2H | chr7 | 129479175 | - |
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FusionProtFeatures for PTK2_UBE2H |
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Hgene | Tgene |
PTK2 | UBE2H |
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}. | Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, toubiquitinate histone H2A. {ECO:0000269|PubMed:20061386,ECO:0000269|PubMed:8132613}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PTK2_UBE2H |
![]() (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_UBE2H |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PTK2 | IRS1, 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 | UBE2H | RNF216, STAM2, EPS15, POLM, POLL, HDAC6, UBASH3B, RNF103, NEURL1, RNF186, TRIM56, UBOX5, DZIP3, RNF34, TRIM27, RNF4, TRAIP, TRIM36, DTX3, RNF114, BRAP, LRSAM1, CBLC, DTX3L, MKRN3, TRIM23, RNF10, RNF113B, RNF133, RNF139, RNF144A, RNF146, RNF166, RNF185, MARCH10, RNF2, RNF38, RNF6, TRIM17, TRIM2, TRIM37, TRIM5, ELAVL1, HDAC2, RELA, CD99, TRIM28, UBR2, TRIM21, RNF128, RAG1, SEC23IP, LACTB2, TXNDC17, TXNL1, UBA3, UBAP2L, SSU72, THOP1, PRDX1, PRDX2, USP5, UFC1, TRIM72, ANXA6, IDH1, MTAP, GOT1, MARCH1, MARCH2, MARCH4, MARCH8, PTK2, UBA1, UBE2H, NHLRC1, JADE1, BYSL, UBR3, TRIM69, CDK2, WDR26, ARMC8, RMND5B |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PTK2_UBE2H |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PTK2_UBE2H |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PTK2 | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
Hgene | PTK2 | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
Hgene | PTK2 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Hgene | PTK2 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | PTK2 | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | PTK2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | PTK2 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Hgene | PTK2 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | UBE2H | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | UBE2H | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |