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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: 29407

FusionGeneSummary for PTPN11_PLAGL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN11_PLAGL1
Fusion gene ID: 29407
HgeneTgene
Gene symbol

PTPN11

PLAGL1

Gene ID

5781

5325

Gene nameprotein tyrosine phosphatase, non-receptor type 11PLAG1 like zinc finger 1
SynonymsBPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2LOT1|ZAC|ZAC1
Cytomap

12q24.13

6q24.2

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2Czinc finger protein PLAGL1PLAG-like 1lost on transformation 1pleiomorphic adenoma gene-like 1tumor suppressor ZAC
Modification date2018052720180523
UniProtAcc

Q06124

Q9UM63

Ensembl transtripts involved in fusion geneENST00000531326, ENST00000392597, 
ENST00000351677, 		ENST00000429150, 
ENST00000416623, ENST00000392309, 
ENST00000392307, ENST00000437412, 
ENST00000444202, ENST00000493898, 
ENST00000360537, ENST00000354765, 
ENST00000367572, ENST00000367571, 
Fusion gene scores* DoF score7 X 6 X 4=1686 X 4 X 4=96
# samples 66
** MAII scorelog2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPN11 [Title/Abstract] AND PLAGL1 [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
HgenePTPN11

GO:0035335

peptidyl-tyrosine dephosphorylation

15133037

HgenePTPN11

GO:0038127

ERBB signaling pathway

15133037

HgenePTPN11

GO:0043254

regulation of protein complex assembly

7493946

HgenePTPN11

GO:0048013

ephrin receptor signaling pathway

10655584

HgenePTPN11

GO:2001275

positive regulation of glucose import in response to insulin stimulus

7493946

TgenePLAGL1

GO:0045944

positive regulation of transcription by RNA polymerase II

9671765|15888726


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
TCGARVSARCTCGA-DX-A23Z-01APTPN11chr12

112856929

+PLAGL1chr6

144290115

-
* 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
intron-5UTRENST00000531326ENST00000429150PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000416623PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000392309PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000392307PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000437412PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000444202PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000493898PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000360537PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-5UTRENST00000531326ENST00000354765PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-intronENST00000531326ENST00000367572PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
intron-intronENST00000531326ENST00000367571PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000429150PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000416623PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000392309PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000392307PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000437412PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000444202PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000493898PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000360537PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000392597ENST00000354765PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-intronENST00000392597ENST00000367572PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-intronENST00000392597ENST00000367571PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000429150PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000416623PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000392309PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000392307PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000437412PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000444202PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000493898PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000360537PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-5UTRENST00000351677ENST00000354765PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-intronENST00000351677ENST00000367572PTPN11chr12

112856929

+PLAGL1chr6

144290115

-
5CDS-intronENST00000351677ENST00000367571PTPN11chr12

112856929

+PLAGL1chr6

144290115

-

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FusionProtFeatures for PTPN11_PLAGL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTPN11

Q06124

PLAGL1

Q9UM63

Acts downstream of various receptor and cytoplasmicprotein tyrosine kinases to participate in the signal transductionfrom the cell surface to the nucleus. Positively regulates MAPKsignal transduction pathway (PubMed:28074573). DephosphorylatesGAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2at 'Tyr-722' resulting in stimulatation of its RhoA bindingactivity. Dephosphorylates CDC73 (PubMed:26742426).{ECO:0000269|PubMed:10655584, ECO:0000269|PubMed:18559669,ECO:0000269|PubMed:18829466, ECO:0000269|PubMed:26742426,ECO:0000269|PubMed:28074573}.

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 PTPN11_PLAGL1


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 PTPN11_PLAGL1


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
PTPN11SYNCRIP, EGFR, ERBB2, ERBB4, TREML1, BTLA, CSF2RB, STAT3, FRS2, IRS2, GRB2, ROS1, PDGFRB, STAT5A, STAT5B, INSR, CSF3R, JAK1, JAK2, IL4R, IL6ST, SOCS3, PLCG2, GAB2, IRS1, GAB3, IGF1R, PTK2, KIT, EPHA2, SLAMF1, INPP5D, PECAM1, SELE, GAB1, CAV1, CD33, BCAR1, C6orf25, EPOR, CDH5, CTNNB1, LAIR1, PILRA, FYN, CD84, LY9, PIK3R1, PRLR, SLAMF6, SOS1, MPZL1, SIGLEC11, PTK2B, GHR, CRKL, FCRL3, CEACAM1, SIT1, FCGR2B, PTPN11, CBL, SOCS1, ELAVL1, ERBB3, PAF1, CDC73, LEO1, CTR9, RTF1, WDR61, CBLB, CXCR4, LRRK1, MAP3K5, PIK3R2, CRK, CSF2RBP1, GSK3B, PPIF, FASN, RFWD2, CD274, VCAM1, IQCB1, MTPN, CHRAC1, EFHD2, MAPK14, OXCT1, RPIA, TRIM32, OVCA2, LGALS3, FCGR2A, FSD1, LGALS9, TCEAL1, CYP1A1, NTRK1, MAP2K1, STAMBP, LNX1, HIST1H2BG, FLT1, TXNIP, DNM2, PDGFRA, GAREML, LINC00673, PRPF19, SIRPA, FGFR2, FGFR4, KDR, TEK, DUSP13, SIGLEC5, NXT2, GPX7, GTF2E2, SNRNP27, THEMIS, PDCD1, FGB, LUM, TMEM220, NOSIP, MED21, PTPN6, AATK, ROR2, PTK7, EPHA1, GRASP, SRC, SIGLEC7, SIGLEC9, TRIM25, BEX1, BEX2, BLZF1, LINC01558, C9orf62, CTDSP1, DMRTC1, FAM71E1, GOLGA2, GTF2A2, NSUN5, NSUN5P2, ORMDL3, PLEKHA4, PNCK, POU2AF1, RANGRF, SERF2, SERPINF1, SRSF10, SLC38A1, SLN, STAT1, TLK1, TRMT2BPLAGL1TP53, DAXX, PML, EP300, CREBBP, HDAC1, UBE2I, PIAS2, SMAD3, TP73, KAT2B, TRIM25


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 PTPN11_PLAGL1


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 PTPN11_PLAGL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPN11C0028326Noonan Syndrome24CTD_human;ORPHANET;UNIPROT
HgenePTPN11C0175704LEOPARD Syndrome10CTD_human;ORPHANET;UNIPROT
HgenePTPN11C0349639Juvenile Myelomonocytic Leukemia4CTD_human;HPO;ORPHANET;UNIPROT
HgenePTPN11C0014084Enchondromatosis2CTD_human;HPO
HgenePTPN11C0001418Adenocarcinoma1CTD_human
HgenePTPN11C0004114Astrocytoma1CTD_human
HgenePTPN11C0007137Squamous cell carcinoma1CTD_human
HgenePTPN11C0015306Hereditary Multiple Exostoses1CTD_human
HgenePTPN11C0023418leukemia1CTD_human
HgenePTPN11C0027819Neuroblastoma1CTD_human
HgenePTPN11C0029423Cartilaginous exostosis1CTD_human
HgenePTPN11C0587248Costello syndrome (disorder)1CTD_human
HgenePTPN11C1275081Cardio-facio-cutaneous syndrome1CTD_human
TgenePLAGL1C0038356Stomach Neoplasms1CTD_human