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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KDM4C-JAK2 (FusionGDB2 ID:41644)

Fusion Gene Summary for KDM4C-JAK2

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM4C-JAK2
Fusion gene ID: 41644
HgeneTgene
Gene symbol

KDM4C

JAK2

Gene ID

23081

3717

Gene namelysine demethylase 4CJanus kinase 2
SynonymsGASC1|JHDM3C|JMJD2C|TDRD14CJTK10|THCYT3
Cytomap

9p24.1

9p24.1

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 4CJmjC domain-containing histone demethylation protein 3Cgene amplified in squamous cell carcinoma 1 proteinjumonji domain-containing protein 2Clysine (K)-specific demethylase 4Ctudor domain containing 14Ctyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase)
Modification date2020032920200329
UniProtAcc

Q9H3R0

O60674

Ensembl transtripts involved in fusion geneENST00000535193, ENST00000543771, 
ENST00000381306, ENST00000381309, 
ENST00000442236, ENST00000489243, 
ENST00000536108, ENST00000428870, 
ENST00000401787, 		ENST00000539801, 
ENST00000381652, ENST00000544510, 
ENST00000487310, 
Fusion gene scores* DoF score22 X 15 X 12=396022 X 26 X 9=5148
# samples 2215
** MAII scorelog2(22/3960*10)=-4.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/5148*10)=-5.10097764772482
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KDM4C [Title/Abstract] AND JAK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKDM4C(7103870)-JAK2(5123004), # samples:1
Anticipated loss of major functional domain due to fusion event.KDM4C-JAK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KDM4C-JAK2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KDM4C-JAK2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KDM4C-JAK2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
KDM4C-JAK2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
KDM4C-JAK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KDM4C-JAK2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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
HgeneKDM4C

GO:0006357

regulation of transcription by RNA polymerase II

17277772

HgeneKDM4C

GO:0033169

histone H3-K9 demethylation

18066052|21914792

HgeneKDM4C

GO:0070544

histone H3-K36 demethylation

21914792

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 buttonFusion gene breakpoints across KDM4C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across JAK2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-E9-A1NA-01AKDM4Cchr9

7103870

-JAK2chr9

5123004

+


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Fusion Gene ORF analysis for KDM4C-JAK2

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-3CDSENST00000535193ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000535193ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000535193ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-intronENST00000535193ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000543771ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000543771ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000543771ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-intronENST00000543771ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000381306ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000381306ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000381306ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
5CDS-intronENST00000381306ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000381309ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000381309ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000381309ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
5CDS-intronENST00000381309ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000442236ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000442236ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000442236ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
5CDS-intronENST00000442236ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000489243ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000489243ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000489243ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-intronENST00000489243ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
3UTR-3CDSENST00000536108ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
3UTR-3CDSENST00000536108ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
3UTR-3CDSENST00000536108ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
3UTR-intronENST00000536108ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000428870ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000428870ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
Frame-shiftENST00000428870ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
5CDS-intronENST00000428870ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000401787ENST00000539801KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000401787ENST00000381652KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-3CDSENST00000401787ENST00000544510KDM4Cchr9

7103870

-JAK2chr9

5123004

+
intron-intronENST00000401787ENST00000487310KDM4Cchr9

7103870

-JAK2chr9

5123004

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for KDM4C-JAK2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for KDM4C-JAK2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KDM4C

Q9H3R0

JAK2

O60674

FUNCTION: Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. {ECO:0000269|PubMed:16603238, ECO:0000269|PubMed:28262558}.FUNCTION: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (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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Fusion Gene Sequence for KDM4C-JAK2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for KDM4C-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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Related Drugs for KDM4C-JAK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneJAK2O60674DB08877RuxolitinibInhibitorSmall moleculeApproved
TgeneJAK2O60674DB08895TofacitinibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneJAK2O60674DB11817BaricitinibInhibitorSmall moleculeApproved|Investigational
TgeneJAK2O60674DB11986EntrectinibInhibitorSmall moleculeApproved|Investigational
TgeneJAK2O60674DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneJAK2O60674DB12500FedratinibInhibitorSmall moleculeApproved|Investigational
TgeneJAK2O60674DB15035ZanubrutinibInhibitorSmall moleculeApproved|Investigational
TgeneJAK2O60674DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for KDM4C-JAK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKDM4CC0004565Melanoma, B161CTD_human
HgeneKDM4CC0009075Melanoma, Cloudman S911CTD_human
HgeneKDM4CC0018598Melanoma, Harding-Passey1CTD_human
HgeneKDM4CC0025149Medulloblastoma1CTD_human
HgeneKDM4CC0025202melanoma1CTD_human
HgeneKDM4CC0025205Melanoma, Experimental1CTD_human
HgeneKDM4CC0079772T-Cell Lymphoma1CTD_human
HgeneKDM4CC0205833Medullomyoblastoma1CTD_human
HgeneKDM4CC0236663Alcohol withdrawal syndrome1PSYGENET
HgeneKDM4CC0278510Childhood Medulloblastoma1CTD_human
HgeneKDM4CC0278876Adult Medulloblastoma1CTD_human
HgeneKDM4CC0751291Desmoplastic Medulloblastoma1CTD_human
HgeneKDM4CC1275668Melanotic medulloblastoma1CTD_human
TgeneJAK2C0032463Polycythemia Vera12CTD_human;ORPHANET;UNIPROT
TgeneJAK2C0040028Thrombocythemia, Essential10CTD_human;ORPHANET
TgeneJAK2C0001815Primary Myelofibrosis9CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneJAK2C3489628Thrombocytosis, Autosomal Dominant8CTD_human
TgeneJAK2C0019154Hepatic Vein Thrombosis3CTD_human;ORPHANET
TgeneJAK2C0856761Budd-Chiari Syndrome3CTD_human;ORPHANET
TgeneJAK2C0009324Ulcerative Colitis2CTD_human
TgeneJAK2C0027022Myeloproliferative disease2CTD_human
TgeneJAK2C0151744Myocardial Ischemia2CTD_human
TgeneJAK2C0836924Thrombocytosis2CTD_human
TgeneJAK2C3281125THROMBOCYTHEMIA 32UNIPROT
TgeneJAK2C0000786Spontaneous abortion1CTD_human
TgeneJAK2C0000822Abortion, Tubal1CTD_human
TgeneJAK2C0006663Calcinosis1CTD_human
TgeneJAK2C0007873Uterine Cervical Neoplasm1CTD_human
TgeneJAK2C0018824Heart valve disease1CTD_human
TgeneJAK2C0019207Hepatoma, Morris1CTD_human
TgeneJAK2C0019208Hepatoma, Novikoff1CTD_human
TgeneJAK2C0021368Inflammation1CTD_human
TgeneJAK2C0023418leukemia1CTD_human
TgeneJAK2C0023467Leukemia, Myelocytic, Acute1CGI;CTD_human;UNIPROT
TgeneJAK2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneJAK2C0023904Liver Neoplasms, Experimental1CTD_human
TgeneJAK2C0025472Mesenteric Vascular Occlusion1CTD_human
TgeneJAK2C0026998Acute Myeloid Leukemia, M11CTD_human
TgeneJAK2C0032461Polycythemia1CTD_human
TgeneJAK2C0032962Pregnancy Complications1CTD_human
TgeneJAK2C0033578Prostatic Neoplasms1CTD_human
TgeneJAK2C0040038Thromboembolism1CTD_human
TgeneJAK2C0042487Venous Thrombosis1CTD_human
TgeneJAK2C0086404Experimental Hepatoma1CTD_human
TgeneJAK2C0149871Deep Vein Thrombosis1CTD_human
TgeneJAK2C0263628Tumoral calcinosis1CTD_human
TgeneJAK2C0376358Malignant neoplasm of prostate1CTD_human
TgeneJAK2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneJAK2C0521174Microcalcification1CTD_human
TgeneJAK2C1527405Erythrocytosis1CTD_human
TgeneJAK2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneJAK2C3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneJAK2C3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneJAK2C3830362Early Pregnancy Loss1CTD_human
TgeneJAK2C4048328cervical cancer1CTD_human
TgeneJAK2C4303761Familial thrombocytosis1ORPHANET
TgeneJAK2C4552766Miscarriage1CTD_human