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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: 29447

FusionGeneSummary for PTPN2_BOLA2

check button Fusion gene summary
Fusion gene informationFusion gene name: PTPN2_BOLA2
Fusion gene ID: 29447
HgeneTgene
Gene symbol

PTPN2

BOLA2

Gene ID

5771

654483

Gene nameprotein tyrosine phosphatase, non-receptor type 2bolA family member 2B
SynonymsPTN2|PTPT|TC-PTP|TCELLPTP|TCPTPBOLA2
Cytomap

18p11.21

16p11.2

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein phosphatase non-receptor type 2T-cell protein tyrosine phosphatasebolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B
Modification date2018051920180519
UniProtAcc

P17706

Q9H3K6

Ensembl transtripts involved in fusion geneENST00000327283, ENST00000591115, 
ENST00000353319, ENST00000309660, 
ENST00000589086, ENST00000591497, 
ENST00000330978, 
Fusion gene scores* DoF score7 X 5 X 5=17519 X 26 X 1=494
# samples 728
** MAII scorelog2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(28/494*10)=-0.819084214639711
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTPN2 [Title/Abstract] AND BOLA2 [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
TgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

TgeneBOLA2

GO:0097428

protein maturation by iron-sulfur cluster transfer

27519415


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
ChiTaRS3.1BU580997PTPN2chr18

12859223

-BOLA2chr16

30002608

+
* 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-intronENST00000327283ENST00000330978PTPN2chr18

12859223

-BOLA2chr16

30002608

+
intron-intronENST00000591115ENST00000330978PTPN2chr18

12859223

-BOLA2chr16

30002608

+
intron-intronENST00000353319ENST00000330978PTPN2chr18

12859223

-BOLA2chr16

30002608

+
intron-intronENST00000309660ENST00000330978PTPN2chr18

12859223

-BOLA2chr16

30002608

+
intron-intronENST00000589086ENST00000330978PTPN2chr18

12859223

-BOLA2chr16

30002608

+
intron-intronENST00000591497ENST00000330978PTPN2chr18

12859223

-BOLA2chr16

30002608

+

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FusionProtFeatures for PTPN2_BOLA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTPN2

P17706

BOLA2

Q9H3K6

Non-receptor type tyrosine-specific phosphatase thatdephosphorylates receptor protein tyrosine kinases including INSR,EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor proteintyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1,STAT3 and STAT6 either in the nucleus or the cytoplasm. Negativelyregulates numerous signaling pathways and biological processeslike hematopoiesis, inflammatory response, cell proliferation anddifferentiation, and glucose homeostasis. Plays a multifaceted andimportant role in the development of the immune system. Functionsin T-cell receptor signaling through dephosphorylation of FYN andLCK to control T-cells differentiation and activation.Dephosphorylates CSF1R, negatively regulating its downstreamsignaling and macrophage differentiation. Negatively regulatescytokine (IL2/interleukin-2 and interferon)-mediated signalingthrough dephosphorylation of the cytoplasmic kinases JAK1, JAK3and their substrate STAT1, that propagate signaling downstream ofthe cytokine receptors. Also regulates the IL6/interleukin-6 andIL4/interleukin-4 cytokine signaling through dephosphorylation ofSTAT3 and STAT6 respectively. In addition to the immune system, itis involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, itdephosphorylates EGFR and negatively regulates EGF signaling.Dephosphorylates PDGFRB and negatively regulates platelet-derivedgrowth factor receptor-beta signaling pathway and therefore cellproliferation. Negatively regulates tumor necrosis factor-mediatedsignaling downstream via MAPK through SRC dephosphorylation. Mayalso regulate the hepatocyte growth factor receptor signalingpathway through dephosphorylation of the hepatocyte growth factorreceptor MET. Plays also an important role in glucose homeostasis.For instance, negatively regulates the insulin receptor signalingpathway through the dephosphorylation of INSR and controlgluconeogenesis and liver glucose production through negativeregulation of the IL6 signaling pathways. May also bind DNA.{ECO:0000269|PubMed:10734133, ECO:0000269|PubMed:11909529,ECO:0000269|PubMed:12138178, ECO:0000269|PubMed:12612081,ECO:0000269|PubMed:14966296, ECO:0000269|PubMed:15592458,ECO:0000269|PubMed:18819921, ECO:0000269|PubMed:22080863,ECO:0000269|PubMed:9488479}. Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}.

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 PTPN2_BOLA2


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 PTPN2_BOLA2


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


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 PTPN2_BOLA2


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 PTPN2_BOLA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTPN2C0003873Rheumatoid Arthritis1CTD_human
HgenePTPN2C0009324Ulcerative Colitis1CTD_human
HgenePTPN2C0010346Crohn Disease1CTD_human
HgenePTPN2C0023492Leukemia, T-Cell1CTD_human
HgenePTPN2C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human