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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:SMOX-SLC24A3 (FusionGDB2 ID:83654)

Fusion Gene Summary for SMOX-SLC24A3

check button Fusion gene summary
Fusion gene informationFusion gene name: SMOX-SLC24A3
Fusion gene ID: 83654
HgeneTgene
Gene symbol

SMOX

SLC24A3

Gene ID

54498

57419

Gene namespermine oxidasesolute carrier family 24 member 3
SynonymsC20orf16|PAO|PAO-1|PAO1|PAOH|PAOH1|SMONCKX3
Cytomap

20p13

20p11.23

Type of geneprotein-codingprotein-coding
Descriptionspermine oxidaseflavin containing amine oxidaseflavin-containing spermine oxidasepolyamine oxidase 1putative cyclin G1 interacting proteinsodium/potassium/calcium exchanger 3Na(+)/K(+)/Ca(2+)-exchange protein 3sodium calcium exchangersolute carrier family 24 (sodium/potassium/calcium exchanger), member 3
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000278795, ENST00000305958, 
ENST00000339123, ENST00000484515, 
ENST00000346595, ENST00000379460, 
ENST00000328041, 
Fusion gene scores* DoF score9 X 6 X 4=21612 X 12 X 11=1584
# samples 915
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/1584*10)=-3.40053792958373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMOX [Title/Abstract] AND SLC24A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMOX(4129624)-SLC24A3(19634706), # samples:2
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 buttonFusion gene breakpoints across SMOX (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 SLC24A3 (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
ChimerDB4LIHCTCGA-DD-A4NO-01ASMOXchr20

4129624

+SLC24A3chr20

19634706

+
ChimerDB4LIHCTCGA-DD-A4NO-01ASMOXchr20

4129624

-SLC24A3chr20

19634706

+


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Fusion Gene ORF analysis for SMOX-SLC24A3

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
5UTR-3CDSENST00000278795ENST00000328041SMOXchr20

4129624

+SLC24A3chr20

19634706

+
5UTR-3CDSENST00000305958ENST00000328041SMOXchr20

4129624

+SLC24A3chr20

19634706

+
5UTR-3CDSENST00000339123ENST00000328041SMOXchr20

4129624

+SLC24A3chr20

19634706

+
3UTR-3CDSENST00000484515ENST00000328041SMOXchr20

4129624

+SLC24A3chr20

19634706

+
5UTR-3CDSENST00000346595ENST00000328041SMOXchr20

4129624

+SLC24A3chr20

19634706

+
intron-3CDSENST00000379460ENST00000328041SMOXchr20

4129624

+SLC24A3chr20

19634706

+

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 SMOX-SLC24A3


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)
SMOXchr204129624+SLC24A3chr2019634705+4.85E-060.9999951
SMOXchr204129624+SLC24A3chr2019634705+4.85E-060.9999951

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 SMOX-SLC24A3


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
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 SMOX-SLC24A3


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 SMOX-SLC24A3


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 SMOX-SLC24A3


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

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Related Diseases for SMOX-SLC24A3


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
TgeneSLC24A3C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneSLC24A3C0036095Salivary Gland Neoplasms1CTD_human
TgeneSLC24A3C0220636Malignant neoplasm of salivary gland1CTD_human