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Fusion gene ID: 29396 |
FusionGeneSummary for PTP4A1_NOTCH3 |
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Fusion gene information | Fusion gene name: PTP4A1_NOTCH3 | Fusion gene ID: 29396 | Hgene | Tgene | Gene symbol | PTP4A1 | NOTCH3 | Gene ID | 7803 | 4854 |
Gene name | protein tyrosine phosphatase type IVA, member 1 | notch 3 | |
Synonyms | HH72|PRL-1|PRL1|PTP(CAAX1)|PTPCAAX1 | CADASIL|CADASIL1|CASIL|IMF2|LMNS | |
Cytomap | 6q12 | 19p13.12 | |
Type of gene | protein-coding | protein-coding | |
Description | protein tyrosine phosphatase type IVA 1PVT1/PTP4A1 fusionphosphatase of regenerating liver 1protein tyrosine phosphatase type IVA protein 1protein-tyrosine phosphatase 4a1protein-tyrosine phosphatase of regenerating liver 1 | neurogenic locus notch homolog protein 3Notch homolog 3 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q93096 | Q9UM47 | |
Ensembl transtripts involved in fusion gene | ENST00000370651, ENST00000370650, ENST00000578299, ENST00000473334, | ENST00000263388, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 5 X 6=120 |
# samples | 3 | 6 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PTP4A1 [Title/Abstract] AND NOTCH3 [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 |
![]() (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 | LD | ESCA | TCGA-L5-A8NH-01A | PTP4A1 | chr6 | 64282624 | + | NOTCH3 | chr19 | 15280981 | - |
* 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 | ENST00000370651 | ENST00000263388 | PTP4A1 | chr6 | 64282624 | + | NOTCH3 | chr19 | 15280981 | - |
5UTR-3CDS | ENST00000370650 | ENST00000263388 | PTP4A1 | chr6 | 64282624 | + | NOTCH3 | chr19 | 15280981 | - |
Frame-shift | ENST00000578299 | ENST00000263388 | PTP4A1 | chr6 | 64282624 | + | NOTCH3 | chr19 | 15280981 | - |
intron-3CDS | ENST00000473334 | ENST00000263388 | PTP4A1 | chr6 | 64282624 | + | NOTCH3 | chr19 | 15280981 | - |
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FusionProtFeatures for PTP4A1_NOTCH3 |
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Hgene | Tgene |
PTP4A1 | NOTCH3 |
Protein tyrosine phosphatase which stimulatesprogression from G1 into S phase during mitosis. May play a rolein the development and maintenance of differentiating epithelialtissues. Enhances cell proliferation, cell motility and invasiveactivity, and promotes cancer metastasis.{ECO:0000269|PubMed:12235145, ECO:0000269|PubMed:12782572,ECO:0000269|PubMed:14643450}. | Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination(PubMed:15350543). Upon ligand activation through the releasednotch intracellular domain (NICD) it forms a transcriptionalactivator complex with RBPJ/RBPSUH and activates genes of theenhancer of split locus. Affects the implementation ofdifferentiation, proliferation and apoptotic programs (Bysimilarity). {ECO:0000250|UniProtKB:Q9R172,ECO:0000269|PubMed:15350543}. |
![]() * 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 PTP4A1_NOTCH3 |
![]() (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 PTP4A1_NOTCH3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PTP4A1 | TNFAIP8, PTP4A2, ATF7, ELAVL1, APP, LAMP1, GNL1, CREB3L2, ZNF212, RABGGTB, LRRC39, PDHB, AUP1, ISLR, FNTB, BLMH, CNNM1, CNNM3, CNNM4, FDFT1, NUDT12, CDC25A, PTP4A1, MACROD1, RPS12, POLDIP2, CMSS1, EIF3M, MRTO4, RPS19BP1, SSB, RPS10P5, PA2G4, NUDT16, RPL36AL, GRSF1, GADD45GIP1, ACOT8, MRPS28, NIFK, RPL3L, SND1, MBLAC2, EIF3L, PTPRE | NOTCH3 | SNW1, NOTCH1, DLL1, JAG1, JAG2, MAML1, GSK3B, STRAP, CSNK2B, PSMA1, CBL, PTCRA, FBLN1, EGFL7, MPPED2, GGT6, CBFA2T2, SPTLC2, RET, MYC, SORBS3, WWP2, RBPJ, TNNT2, XKR8, SNX19, CNTD1, WDR25, SCGB3A1, CPNE6, BAG2, SLC39A1, PPIA, C8orf76, C1QL1, TMEM108, NEDD9, RMI2, CRIP2, BTF3L4, TPT1, ANKRD44, TSPAN3, RABGGTB, NEU2, ZFP41, NTRK1, CDH1, HIF1AN, DLK2, ADAM33, ADAM32, DNAJC10, ZNF408, LRRIQ1, MANSC1, DEFA1, IFNGR1, ZNF224, ABCG8, SLC20A1 |
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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 PTP4A1_NOTCH3 |
![]() (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 PTP4A1_NOTCH3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PTP4A1 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
Tgene | NOTCH3 | C0751587 | CADASIL Syndrome | 20 | CTD_human;ORPHANET;UNIPROT |
Tgene | NOTCH3 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | NOTCH3 | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | NOTCH3 | C0024121 | Lung Neoplasms | 1 | CTD_human;HPO |
Tgene | NOTCH3 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | NOTCH3 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
Tgene | NOTCH3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | NOTCH3 | C3809084 | MYOFIBROMATOSIS, INFANTILE, 2 | 1 | UNIPROT |