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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: 21039

FusionGeneSummary for MAPKAPK5_PTPN11

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKAPK5_PTPN11
Fusion gene ID: 21039
HgeneTgene
Gene symbol

MAPKAPK5

PTPN11

Gene ID

8550

5781

Gene namemitogen-activated protein kinase-activated protein kinase 5protein tyrosine phosphatase, non-receptor type 11
SynonymsMAPKAP-K5|MK-5|MK5|PRAKBPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2
Cytomap

12q24.12-q24.13

12q24.13

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-activated protein kinase 5MAPK-activated protein kinase 5MAPKAP kinase 5MAPKAPK-5p38-regulated/activated protein kinasetyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C
Modification date2018052320180527
UniProtAcc

Q8IW41

Q06124

Ensembl transtripts involved in fusion geneENST00000550735, ENST00000551404, 
ENST00000547305, ENST00000546394, 
ENST00000531326, ENST00000392597, 
ENST00000351677, 
Fusion gene scores* DoF score8 X 8 X 7=4488 X 7 X 3=168
# samples 128
** MAII scorelog2(12/448*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAPKAPK5 [Title/Abstract] AND PTPN11 [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
HgeneMAPKAPK5

GO:0006417

regulation of translation

21329882

HgeneMAPKAPK5

GO:0007265

Ras protein signal transduction

17254968

HgeneMAPKAPK5

GO:0046777

protein autophosphorylation

21329882

HgeneMAPKAPK5

GO:0090400

stress-induced premature senescence

17254968

TgenePTPN11

GO:0035335

peptidyl-tyrosine dephosphorylation

15133037

TgenePTPN11

GO:0038127

ERBB signaling pathway

15133037

TgenePTPN11

GO:0043254

regulation of protein complex assembly

7493946

TgenePTPN11

GO:0048013

ephrin receptor signaling pathway

10655584

TgenePTPN11

GO:2001275

positive regulation of glucose import in response to insulin stimulus

7493946


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-38-4630-01AMAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
* 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
5CDS-intronENST00000550735ENST00000531326MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000550735ENST00000392597MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000550735ENST00000351677MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000551404ENST00000531326MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000551404ENST00000392597MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000551404ENST00000351677MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000547305ENST00000531326MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000547305ENST00000392597MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
5CDS-intronENST00000547305ENST00000351677MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
3UTR-intronENST00000546394ENST00000531326MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
3UTR-intronENST00000546394ENST00000392597MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+
3UTR-intronENST00000546394ENST00000351677MAPKAPK5chr12

112280573

+PTPN11chr12

112884080

+

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FusionProtFeatures for MAPKAPK5_PTPN11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAPKAPK5

Q8IW41

PTPN11

Q06124

Tumor suppressor serine/threonine-protein kinaseinvolved in mTORC1 signaling and post-transcriptional regulation.Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1,p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation ofFOXO3: phosphorylation of FOXO3 leads to promote nuclearlocalization of FOXO3, enabling expression of miR-34b and miR-34c,2 post-transcriptional regulators of MYC that bind to the 3'UTR ofMYC transcript and prevent MYC translation. Acts as a negativeregulator of mTORC1 signaling by mediating phosphorylation andinhibition of RHEB. Part of the atypical MAPK signaling via itsinteraction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of thecomplex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, butthe complex follows a complex set of phosphorylation events: uponinteraction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4),ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediatesphosphorylation and activation of MAPKAPK5, which in turnphosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediatesphosphorylation of HSP27/HSPB1 in response to PKA/PRKACAstimulation, inducing F-actin rearrangement.{ECO:0000269|PubMed:17254968, ECO:0000269|PubMed:17728103,ECO:0000269|PubMed:19166925, ECO:0000269|PubMed:21329882,ECO:0000269|PubMed:9628874}. 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 MAPKAPK5_PTPN11


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 MAPKAPK5_PTPN11


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
MAPKAPK5HSPB1, HSPB2, MAPK6, MAPK14, RPL13, ZNF282, TAB1, MAPK4, MAPKAPK2, LSR, CDCA8, ZNF576, SRPK2, SRPK1, TP53, MAPK9, MAPK1, EIF4EBP1, MAPKAPK5PTPN11SYNCRIP, 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, TRMT2B


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 MAPKAPK5_PTPN11


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 MAPKAPK5_PTPN11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTPN11C0028326Noonan Syndrome24CTD_human;ORPHANET;UNIPROT
TgenePTPN11C0175704LEOPARD Syndrome10CTD_human;ORPHANET;UNIPROT
TgenePTPN11C0349639Juvenile Myelomonocytic Leukemia4CTD_human;HPO;ORPHANET;UNIPROT
TgenePTPN11C0014084Enchondromatosis2CTD_human;HPO
TgenePTPN11C0001418Adenocarcinoma1CTD_human
TgenePTPN11C0004114Astrocytoma1CTD_human
TgenePTPN11C0007137Squamous cell carcinoma1CTD_human
TgenePTPN11C0015306Hereditary Multiple Exostoses1CTD_human
TgenePTPN11C0023418leukemia1CTD_human
TgenePTPN11C0027819Neuroblastoma1CTD_human
TgenePTPN11C0029423Cartilaginous exostosis1CTD_human
TgenePTPN11C0587248Costello syndrome (disorder)1CTD_human
TgenePTPN11C1275081Cardio-facio-cutaneous syndrome1CTD_human