Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:SMOX-TYK2 (FusionGDB2 ID:HG54498TG7297)

Fusion Gene Summary for SMOX-TYK2

check button Fusion gene summary
Fusion gene informationFusion gene name: SMOX-TYK2
Fusion gene ID: hg54498tg7297
HgeneTgene
Gene symbol

SMOX

TYK2

Gene ID

54498

7297

Gene namespermine oxidasetyrosine kinase 2
SynonymsC20orf16|PAO|PAO-1|PAO1|PAOH|PAOH1|SMOIMD35|JTK1
Cytomap('SMOX')('TYK2')

20p13

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionspermine oxidaseflavin containing amine oxidaseflavin-containing spermine oxidasepolyamine oxidase 1putative cyclin G1 interacting proteinnon-receptor tyrosine-protein kinase TYK2
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000278795, ENST00000305958, 
ENST00000339123, ENST00000346595, 
ENST00000379460, ENST00000484515, 
Fusion gene scores* DoF score9 X 6 X 4=21652 X 14 X 18=13104
# samples 954
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(54/13104*10)=-4.60090404459018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMOX [Title/Abstract] AND TYK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMOX(4102813)-TYK2(10461209), # samples:1
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
HgeneSMOX

GO:0006598

polyamine catabolic process

12477380



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
ChiTaRS5.0N/AAA806964SMOXchr20

4102813

-TYK2chr19

10461209

+


Top

Fusion Gene ORF analysis for SMOX-TYK2

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-intronENST00000278795ENST00000264818SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000278795ENST00000524462SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000278795ENST00000525621SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000278795ENST00000529370SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000278795ENST00000529422SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000305958ENST00000264818SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000305958ENST00000524462SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000305958ENST00000525621SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000305958ENST00000529370SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000305958ENST00000529422SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000339123ENST00000264818SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000339123ENST00000524462SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000339123ENST00000525621SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000339123ENST00000529370SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000339123ENST00000529422SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000346595ENST00000264818SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000346595ENST00000524462SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000346595ENST00000525621SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000346595ENST00000529370SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000346595ENST00000529422SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000379460ENST00000264818SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000379460ENST00000524462SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000379460ENST00000525621SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000379460ENST00000529370SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000379460ENST00000529422SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000484515ENST00000264818SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000484515ENST00000524462SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000484515ENST00000525621SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000484515ENST00000529370SMOXchr20

4102813

-TYK2chr19

10461209

+
intron-intronENST00000484515ENST00000529422SMOXchr20

4102813

-TYK2chr19

10461209

+

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

Top

Fusion Genomic Features for SMOX-TYK2


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)


Top

Fusion Protein Features for SMOX-TYK2


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/:4102813/:10461209)
- 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
..
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: 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}.

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


Top

Fusion Gene Sequence for SMOX-TYK2


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.

Top

Fusion Gene PPI Analysis for SMOX-TYK2


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


Top

Related Drugs for SMOX-TYK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for SMOX-TYK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMOXC0038454Cerebrovascular accident1CTD_human
HgeneSMOXC0238281Middle Cerebral Artery Syndrome1CTD_human
HgeneSMOXC0525045Mood Disorders1PSYGENET
HgeneSMOXC0740376Middle Cerebral Artery Thrombosis1CTD_human
HgeneSMOXC0740391Middle Cerebral Artery Occlusion1CTD_human
HgeneSMOXC0740392Infarction, Middle Cerebral Artery1CTD_human
HgeneSMOXC0751845Middle Cerebral Artery Embolus1CTD_human
HgeneSMOXC0751846Left Middle Cerebral Artery Infarction1CTD_human
HgeneSMOXC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
HgeneSMOXC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
HgeneSMOXC0751849Right Middle Cerebral Artery Infarction1CTD_human
HgeneSMOXC0751956Acute Cerebrovascular Accidents1CTD_human
TgeneC1969086Tyrosine Kinase 2 Deficiency3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0003873Rheumatoid Arthritis2CTD_human
TgeneC0008312Primary biliary cirrhosis1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0010346Crohn Disease1CTD_human;GENOMICS_ENGLAND
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0023892Biliary cirrhosis1CTD_human
TgeneC0026769Multiple Sclerosis1CTD_human
TgeneC0030246Pustulosis of Palms and Soles1CTD_human
TgeneC0033860Psoriasis1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0156147Crohn's disease of large bowel1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0206182Lymphomatoid Papulosis1ORPHANET
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0238065Secondary Biliary Cholangitis1CTD_human
TgeneC0267380Crohn's disease of the ileum1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0344315Depressed mood1PSYGENET
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC0678202Regional enteritis1CTD_human
TgeneC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneC0949272IIeocolitis1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1301362Primary Cutaneous Anaplastic Large Cell Lymphoma1ORPHANET
TgeneC1456784Paranoia1CTD_human
TgeneC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4551595Biliary Cirrhosis, Primary, 11CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human