FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 29396

FusionGeneSummary for PTP4A1_NOTCH3

check button Fusion gene summary
Fusion gene informationFusion gene name: PTP4A1_NOTCH3
Fusion gene ID: 29396
HgeneTgene
Gene symbol

PTP4A1

NOTCH3

Gene ID

7803

4854

Gene nameprotein tyrosine phosphatase type IVA, member 1notch 3
SynonymsHH72|PRL-1|PRL1|PTP(CAAX1)|PTPCAAX1CADASIL|CADASIL1|CASIL|IMF2|LMNS
Cytomap

6q12

19p13.12

Type of geneprotein-codingprotein-coding
Descriptionprotein 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 1neurogenic locus notch homolog protein 3Notch homolog 3
Modification date2018052320180527
UniProtAcc

Q93096

Q9UM47

Ensembl transtripts involved in fusion geneENST00000370651, ENST00000370650, 
ENST00000578299, ENST00000473334, 
ENST00000263388, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 5 X 6=120
# samples 36
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

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
TCGALDESCATCGA-L5-A8NH-01APTP4A1chr6

64282624

+NOTCH3chr19

15280981

-
* 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-3CDSENST00000370651ENST00000263388PTP4A1chr6

64282624

+NOTCH3chr19

15280981

-
5UTR-3CDSENST00000370650ENST00000263388PTP4A1chr6

64282624

+NOTCH3chr19

15280981

-
Frame-shiftENST00000578299ENST00000263388PTP4A1chr6

64282624

+NOTCH3chr19

15280981

-
intron-3CDSENST00000473334ENST00000263388PTP4A1chr6

64282624

+NOTCH3chr19

15280981

-

Top

FusionProtFeatures for PTP4A1_NOTCH3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTP4A1

Q93096

NOTCH3

Q9UM47

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}.

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


Top

FusionGeneSequence for PTP4A1_NOTCH3


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).

Top

FusionGenePPI for PTP4A1_NOTCH3


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
PTP4A1TNFAIP8, 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, PTPRENOTCH3SNW1, 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


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


Top

RelatedDrugs for PTP4A1_NOTCH3


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

Top

RelatedDiseases for PTP4A1_NOTCH3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTP4A1C0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneNOTCH3C0751587CADASIL Syndrome20CTD_human;ORPHANET;UNIPROT
TgeneNOTCH3C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneNOTCH3C0017636Glioblastoma1CTD_human
TgeneNOTCH3C0024121Lung Neoplasms1CTD_human;HPO
TgeneNOTCH3C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNOTCH3C0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneNOTCH3C1458155Mammary Neoplasms1CTD_human
TgeneNOTCH3C3809084MYOFIBROMATOSIS, INFANTILE, 21UNIPROT