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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:OFD1-JAK2 (FusionGDB2 ID:HG8481TG3717)

Fusion Gene Summary for OFD1-JAK2

check button Fusion gene summary
Fusion gene informationFusion gene name: OFD1-JAK2
Fusion gene ID: hg8481tg3717
HgeneTgene
Gene symbol

OFD1

JAK2

Gene ID

8481

3717

Gene nameOFD1 centriole and centriolar satellite proteinJanus kinase 2
Synonyms71-7A|CXorf5|JBTS10|RP23|SGBS2JTK10|THCYT3
Cytomap('OFD1')('JAK2')

Xp22.2

9p24.1

Type of geneprotein-codingprotein-coding
Descriptionoral-facial-digital syndrome 1 proteinJoubert syndrome type 10protein 71-7Atyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase)
Modification date2020032020200329
UniProtAcc.

O60674

Ensembl transtripts involved in fusion geneENST00000340096, ENST00000380550, 
ENST00000380567, ENST00000398395, 
ENST00000490265, 
Fusion gene scores* DoF score6 X 7 X 3=12622 X 26 X 9=5148
# samples 715
** MAII scorelog2(7/126*10)=-0.84799690655495
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: OFD1 [Title/Abstract] AND JAK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
Anticipated loss of major functional domain due to fusion event.
* 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
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 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
ChimerKB4..OFD1chrX

13786836

+JAK2chr9

13786836

+


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Fusion Gene ORF analysis for OFD1-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-intronENST00000340096ENST00000381652OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000340096ENST00000487310OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000340096ENST00000539801OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000340096ENST00000544510OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380550ENST00000381652OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380550ENST00000487310OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380550ENST00000539801OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380550ENST00000544510OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380567ENST00000381652OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380567ENST00000487310OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380567ENST00000539801OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000380567ENST00000544510OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000398395ENST00000381652OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000398395ENST00000487310OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000398395ENST00000539801OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000398395ENST00000544510OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000490265ENST00000381652OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000490265ENST00000487310OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000490265ENST00000539801OFD1chrX

13786836

+JAK2chr9

13786836

+
intron-intronENST00000490265ENST00000544510OFD1chrX

13786836

+JAK2chr9

13786836

+

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 OFD1-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)


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Fusion Protein Features for OFD1-JAK2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

O60674

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.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 OFD1-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 OFD1-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 OFD1-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 OFD1-JAK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOFD1C1510460Orofaciodigital Syndrome I8GENOMICS_ENGLAND;UNIPROT
HgeneOFD1C2749019JOUBERT SYNDROME 10 (disorder)6CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneOFD1C4277690Ciliopathies4CLINGEN;GENOMICS_ENGLAND
HgeneOFD1C1846175SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)3CTD_human;GENOMICS_ENGLAND
HgeneOFD1C0035334Retinitis Pigmentosa1GENOMICS_ENGLAND;ORPHANET
HgeneOFD1C0265251Oto-Palato-digital syndrome type 11CTD_human
HgeneOFD1C1419610RP23 gene1CTD_human;GENOMICS_ENGLAND
TgeneC0032463Polycythemia Vera12CTD_human;ORPHANET;UNIPROT
TgeneC0040028Thrombocythemia, Essential10CTD_human;ORPHANET
TgeneC0001815Primary Myelofibrosis9CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3489628Thrombocytosis, Autosomal Dominant8CTD_human
TgeneC0019154Hepatic Vein Thrombosis3CTD_human;ORPHANET
TgeneC0856761Budd-Chiari Syndrome3CTD_human;ORPHANET
TgeneC0009324Ulcerative Colitis2CTD_human
TgeneC0027022Myeloproliferative disease2CTD_human
TgeneC0151744Myocardial Ischemia2CTD_human
TgeneC0836924Thrombocytosis2CTD_human
TgeneC3281125THROMBOCYTHEMIA 32UNIPROT
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0006663Calcinosis1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0018824Heart valve disease1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CGI;CTD_human;UNIPROT
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0025472Mesenteric Vascular Occlusion1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0032461Polycythemia1CTD_human
TgeneC0032962Pregnancy Complications1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0040038Thromboembolism1CTD_human
TgeneC0042487Venous Thrombosis1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0149871Deep Vein Thrombosis1CTD_human
TgeneC0263628Tumoral calcinosis1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0521174Microcalcification1CTD_human
TgeneC1527405Erythrocytosis1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4048328cervical cancer1CTD_human
TgeneC4303761Familial thrombocytosis1ORPHANET
TgeneC4552766Miscarriage1CTD_human