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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:SEPHS2-MAPK3 (FusionGDB2 ID:80451)

Fusion Gene Summary for SEPHS2-MAPK3

check button Fusion gene summary
Fusion gene informationFusion gene name: SEPHS2-MAPK3
Fusion gene ID: 80451
HgeneTgene
Gene symbol

SEPHS2

MAPK3

Gene ID

22928

5595

Gene nameselenophosphate synthetase 2mitogen-activated protein kinase 3
SynonymsSPS2ERK-1|ERK1|ERT2|HS44KDAP|HUMKER1A|P44ERK1|P44MAPK|PRKM3|p44-ERK1|p44-MAPK
Cytomap

16p11.2

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionselenide, water dikinase 2selenium donor protein 2selenophosphate synthase 2mitogen-activated protein kinase 3MAP kinase isoform p44MAPK 1extracellular signal-regulated kinase 1extracellular signal-related kinase 1insulin-stimulated MAP2 kinasemicrotubule-associated protein 2 kinase
Modification date2020031320200327
UniProtAcc.

P27361

Ensembl transtripts involved in fusion geneENST00000478753, ENST00000500504, 
ENST00000542752, 
ENST00000263025, 
ENST00000322266, ENST00000403394, 
ENST00000484663, ENST00000395199, 
ENST00000395200, ENST00000395202, 
ENST00000494643, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: SEPHS2 [Title/Abstract] AND MAPK3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEPHS2(30456543)-MAPK3(30125698), # 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
TgeneMAPK3

GO:0006468

protein phosphorylation

7687743

TgeneMAPK3

GO:0006975

DNA damage induced protein phosphorylation

17560175

TgeneMAPK3

GO:0016310

phosphorylation

15950189

TgeneMAPK3

GO:0034198

cellular response to amino acid starvation

11096076

TgeneMAPK3

GO:0038083

peptidyl-tyrosine autophosphorylation

8388392

TgeneMAPK3

GO:0051403

stress-activated MAPK cascade

11096076

TgeneMAPK3

GO:0070849

response to epidermal growth factor

18794356|21968647


check buttonFusion gene breakpoints across SEPHS2 (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 MAPK3 (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
ChimerDB4BLCATCGA-CU-A3KJ-01ASEPHS2chr16

30456543

-MAPK3chr16

30125698

-


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Fusion Gene ORF analysis for SEPHS2-MAPK3

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-3UTRENST00000478753ENST00000263025SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000478753ENST00000322266SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000478753ENST00000403394SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000478753ENST00000484663SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000500504ENST00000263025SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000500504ENST00000322266SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000500504ENST00000403394SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000500504ENST00000484663SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000542752ENST00000263025SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000542752ENST00000322266SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000542752ENST00000403394SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-3UTRENST00000542752ENST00000484663SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000478753ENST00000395199SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000478753ENST00000395200SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000478753ENST00000395202SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000478753ENST00000494643SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000500504ENST00000395199SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000500504ENST00000395200SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000500504ENST00000395202SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000500504ENST00000494643SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000542752ENST00000395199SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000542752ENST00000395200SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000542752ENST00000395202SEPHS2chr16

30456543

-MAPK3chr16

30125698

-
intron-intronENST00000542752ENST00000494643SEPHS2chr16

30456543

-MAPK3chr16

30125698

-

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 SEPHS2-MAPK3


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 SEPHS2-MAPK3


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/:30456543/:30125698)
- 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
.MAPK3

P27361

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: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. {ECO:0000269|PubMed:10393181, ECO:0000269|PubMed:10617468, ECO:0000269|PubMed:12110590, ECO:0000269|PubMed:12356731, ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:15788397, ECO:0000269|PubMed:15952796, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:8325880, ECO:0000269|PubMed:9155018, ECO:0000269|PubMed:9480836}.

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 SEPHS2-MAPK3


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 SEPHS2-MAPK3


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 SEPHS2-MAPK3


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 SEPHS2-MAPK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource