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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: 18015

FusionGeneSummary for JAK2_JAK2

check button Fusion gene summary
Fusion gene informationFusion gene name: JAK2_JAK2
Fusion gene ID: 18015
HgeneTgene
Gene symbol

JAK2

JAK2

Gene ID

3717

3717

Gene nameJanus kinase 2Janus kinase 2
SynonymsJTK10|THCYT3JTK10|THCYT3
Cytomap

9p24.1

9p24.1

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase)tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase)
Modification date2018052320180523
UniProtAcc

O60674

O60674

Ensembl transtripts involved in fusion geneENST00000539801, ENST00000381652, 
ENST00000544510, ENST00000487310, 
ENST00000539801, ENST00000381652, 
ENST00000544510, ENST00000487310, 
Fusion gene scores* DoF score8 X 8 X 6=3847 X 8 X 4=224
# samples 109
** MAII scorelog2(10/384*10)=-1.94110631094643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: JAK2 [Title/Abstract] AND JAK2 [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
HgeneJAK2

GO:0010811

positive regulation of cell-substrate adhesion

10925297

HgeneJAK2

GO:0019221

cytokine-mediated signaling pathway

8609418

HgeneJAK2

GO:0033209

tumor necrosis factor-mediated signaling pathway

8609418

HgeneJAK2

GO:0034612

response to tumor necrosis factor

8609418

HgeneJAK2

GO:0035409

histone H3-Y41 phosphorylation

19783980

HgeneJAK2

GO:0035722

interleukin-12-mediated signaling pathway

7528775

HgeneJAK2

GO:0046677

response to antibiotic

16280321

HgeneJAK2

GO:0050727

regulation of inflammatory response

10925297

HgeneJAK2

GO:0060396

growth hormone receptor signaling pathway

10925297

HgeneJAK2

GO:0070671

response to interleukin-12

7528775

TgeneJAK2

GO:0010811

positive regulation of cell-substrate adhesion

10925297

TgeneJAK2

GO:0019221

cytokine-mediated signaling pathway

8609418

TgeneJAK2

GO:0033209

tumor necrosis factor-mediated signaling pathway

8609418

TgeneJAK2

GO:0034612

response to tumor necrosis factor

8609418

TgeneJAK2

GO:0035409

histone H3-Y41 phosphorylation

19783980

TgeneJAK2

GO:0035722

interleukin-12-mediated signaling pathway

7528775

TgeneJAK2

GO:0046677

response to antibiotic

16280321

TgeneJAK2

GO:0050727

regulation of inflammatory response

10925297

TgeneJAK2

GO:0060396

growth hormone receptor signaling pathway

10925297

TgeneJAK2

GO:0070671

response to interleukin-12

7528775


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
ChiTaRS3.1BF890982JAK2chr9

4995728

-JAK2chr9

4998504

+
ChiTaRS3.1BF890967JAK2chr9

4995728

-JAK2chr9

4998504

+
ChiTaRS3.1BI025699JAK2chr9

5099259

-JAK2chr9

5099181

+
* 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-intronENST00000539801ENST00000539801JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000539801ENST00000381652JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000539801ENST00000544510JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000539801ENST00000487310JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000381652ENST00000539801JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000381652ENST00000381652JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000381652ENST00000544510JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000381652ENST00000487310JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000544510ENST00000539801JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000544510ENST00000381652JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000544510ENST00000544510JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000544510ENST00000487310JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000487310ENST00000539801JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000487310ENST00000381652JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000487310ENST00000544510JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000487310ENST00000487310JAK2chr9

4995728

-JAK2chr9

4998504

+
intron-intronENST00000539801ENST00000539801JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000539801ENST00000381652JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000539801ENST00000544510JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000539801ENST00000487310JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000381652ENST00000539801JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000381652ENST00000381652JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000381652ENST00000544510JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000381652ENST00000487310JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000544510ENST00000539801JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000544510ENST00000381652JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000544510ENST00000544510JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000544510ENST00000487310JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000487310ENST00000539801JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000487310ENST00000381652JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000487310ENST00000544510JAK2chr9

5099259

-JAK2chr9

5099181

+
intron-intronENST00000487310ENST00000487310JAK2chr9

5099259

-JAK2chr9

5099181

+

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FusionProtFeatures for JAK2_JAK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JAK2

O60674

JAK2

O60674

Non-receptor tyrosine kinase involved in variousprocesses such as cell growth, development, differentiation orhistone modifications. Mediates essential signaling events in bothinnate and adaptive immunity. In the cytoplasm, plays a pivotalrole in signal transduction via its association with type Ireceptors such as growth hormone (GHR), prolactin (PRLR), leptin(LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type IIreceptors including IFN-alpha, IFN-beta, IFN-gamma and multipleinterleukins (PubMed:7615558). Following ligand-binding to cellsurface receptors, phosphorylates specific tyrosine residues onthe cytoplasmic tails of the receptor, creating docking sites forSTATs proteins (PubMed:9618263). Subsequently, phosphorylates theSTATs proteins once they are recruited to the receptor.Phosphorylated STATs then form homodimer or heterodimers andtranslocate to the nucleus to activate gene transcription. Forexample, cell stimulation with erythropoietin (EPO) duringerythropoiesis leads to JAK2 autophosphorylation, activation, andits association with erythropoietin receptor (EPOR) that becomesphosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A orSTAT5B) is recruited, phosphorylated and activated by JAK2. Onceactivated, dimerized STAT5 translocates into the nucleus andpromotes the transcription of several essential genes involved inthe modulation of erythropoiesis. Part of a signaling cascade thatis activated by increased cellular retinol and that leads to theactivation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). Inaddition, JAK2 mediates angiotensin-2-induced ARHGEF1phosphorylation (PubMed:20098430). Plays a role in cell cycle byphosphorylating CDKN1B (PubMed:21423214). Cooperates with TECthrough reciprocal phosphorylation to mediate cytokine-drivenactivation of FOS transcription. In the nucleus, plays a key rolein chromatin by specifically mediating phosphorylation of 'Tyr-41'of histone H3 (H3Y41ph), a specific tag that promotes exclusion ofCBX5 (HP1 alpha) from chromatin (PubMed:19783980).{ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:19783980,ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:21368206,ECO:0000269|PubMed:21423214, ECO:0000269|PubMed:7615558,ECO:0000269|PubMed:9618263}. Non-receptor tyrosine kinase involved in variousprocesses such as cell growth, development, differentiation orhistone modifications. Mediates essential signaling events in bothinnate and adaptive immunity. In the cytoplasm, plays a pivotalrole in signal transduction via its association with type Ireceptors such as growth hormone (GHR), prolactin (PRLR), leptin(LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type IIreceptors including IFN-alpha, IFN-beta, IFN-gamma and multipleinterleukins (PubMed:7615558). Following ligand-binding to cellsurface receptors, phosphorylates specific tyrosine residues onthe cytoplasmic tails of the receptor, creating docking sites forSTATs proteins (PubMed:9618263). Subsequently, phosphorylates theSTATs proteins once they are recruited to the receptor.Phosphorylated STATs then form homodimer or heterodimers andtranslocate to the nucleus to activate gene transcription. Forexample, cell stimulation with erythropoietin (EPO) duringerythropoiesis leads to JAK2 autophosphorylation, activation, andits association with erythropoietin receptor (EPOR) that becomesphosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A orSTAT5B) is recruited, phosphorylated and activated by JAK2. Onceactivated, dimerized STAT5 translocates into the nucleus andpromotes the transcription of several essential genes involved inthe modulation of erythropoiesis. Part of a signaling cascade thatis activated by increased cellular retinol and that leads to theactivation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). Inaddition, JAK2 mediates angiotensin-2-induced ARHGEF1phosphorylation (PubMed:20098430). Plays a role in cell cycle byphosphorylating CDKN1B (PubMed:21423214). Cooperates with TECthrough reciprocal phosphorylation to mediate cytokine-drivenactivation of FOS transcription. In the nucleus, plays a key rolein chromatin by specifically mediating phosphorylation of 'Tyr-41'of histone H3 (H3Y41ph), a specific tag that promotes exclusion ofCBX5 (HP1 alpha) from chromatin (PubMed:19783980).{ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:19783980,ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:21368206,ECO:0000269|PubMed:21423214, ECO:0000269|PubMed:7615558,ECO:0000269|PubMed:9618263}.

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 JAK2_JAK2


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 JAK2_JAK2


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 JAK2_JAK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneJAK2O60674DB08877RuxolitinibTyrosine-protein kinase JAK2small moleculeapproved
HgeneJAK2O60674DB08895TofacitinibTyrosine-protein kinase JAK2small moleculeapproved|investigational
TgeneJAK2O60674DB08877RuxolitinibTyrosine-protein kinase JAK2small moleculeapproved
TgeneJAK2O60674DB08895TofacitinibTyrosine-protein kinase JAK2small moleculeapproved|investigational

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RelatedDiseases for JAK2_JAK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJAK2C0032463Polycythemia Vera14CTD_human;ORPHANET;UNIPROT
HgeneJAK2C0001815Primary Myelofibrosis9CTD_human
HgeneJAK2C0040028Thrombocythemia, Essential8CTD_human;ORPHANET
HgeneJAK2C0009324Ulcerative Colitis2CTD_human
HgeneJAK2C0151744Myocardial Ischemia2CTD_human
HgeneJAK2C0836924Thrombocytosis2CTD_human;HPO
HgeneJAK2C0856761Budd-Chiari Syndrome2CTD_human;HPO;ORPHANET
HgeneJAK2C0000786Spontaneous abortion1CTD_human
HgeneJAK2C0006663Calcinosis1CTD_human
HgeneJAK2C0018824Heart valve disease1CTD_human
HgeneJAK2C0021368Inflammation1CTD_human
HgeneJAK2C0023418leukemia1CTD_human
HgeneJAK2C0023467Leukemia, Myelocytic, Acute1CTD_human;UNIPROT
HgeneJAK2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneJAK2C0025472Mesenteric Vascular Occlusion1CTD_human
HgeneJAK2C0027022Myeloproliferative disease1CTD_human;HPO
HgeneJAK2C0032461Polycythemia1CTD_human
HgeneJAK2C0032962Pregnancy Complications1CTD_human
HgeneJAK2C0033578Prostatic Neoplasms1CTD_human
HgeneJAK2C0040038Thromboembolism1CTD_human;HPO
HgeneJAK2C0042487Venous Thrombosis1CTD_human;HPO
HgeneJAK2C3281125THROMBOCYTHEMIA 31ORPHANET;UNIPROT
TgeneJAK2C0032463Polycythemia Vera14CTD_human;ORPHANET;UNIPROT
TgeneJAK2C0001815Primary Myelofibrosis9CTD_human
TgeneJAK2C0040028Thrombocythemia, Essential8CTD_human;ORPHANET
TgeneJAK2C0009324Ulcerative Colitis2CTD_human
TgeneJAK2C0151744Myocardial Ischemia2CTD_human
TgeneJAK2C0836924Thrombocytosis2CTD_human;HPO
TgeneJAK2C0856761Budd-Chiari Syndrome2CTD_human;HPO;ORPHANET
TgeneJAK2C0000786Spontaneous abortion1CTD_human
TgeneJAK2C0006663Calcinosis1CTD_human
TgeneJAK2C0018824Heart valve disease1CTD_human
TgeneJAK2C0021368Inflammation1CTD_human
TgeneJAK2C0023418leukemia1CTD_human
TgeneJAK2C0023467Leukemia, Myelocytic, Acute1CTD_human;UNIPROT
TgeneJAK2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneJAK2C0025472Mesenteric Vascular Occlusion1CTD_human
TgeneJAK2C0027022Myeloproliferative disease1CTD_human;HPO
TgeneJAK2C0032461Polycythemia1CTD_human
TgeneJAK2C0032962Pregnancy Complications1CTD_human
TgeneJAK2C0033578Prostatic Neoplasms1CTD_human
TgeneJAK2C0040038Thromboembolism1CTD_human;HPO
TgeneJAK2C0042487Venous Thrombosis1CTD_human;HPO
TgeneJAK2C3281125THROMBOCYTHEMIA 31ORPHANET;UNIPROT