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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:SMAD3-MAP2K1 (FusionGDB2 ID:83215)

Fusion Gene Summary for SMAD3-MAP2K1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD3-MAP2K1
Fusion gene ID: 83215
HgeneTgene
Gene symbol

SMAD3

MAP2K1

Gene ID

4088

5604

Gene nameSMAD family member 3mitogen-activated protein kinase kinase 1
SynonymsHSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3CFC3|MAPKK1|MEK1|MKK1|PRKMK1
Cytomap

15q22.33

15q22.31

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homologdual specificity mitogen-activated protein kinase kinase 1ERK activator kinase 1MAPK/ERK kinase 1MAPKK 1MEK 1protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)
Modification date2020032920200327
UniProtAcc.

Q02750

Ensembl transtripts involved in fusion geneENST00000327367, ENST00000559092, 
ENST00000540846, ENST00000439724, 
ENST00000537194, 		ENST00000307102, 
ENST00000566326, 
Fusion gene scores* DoF score17 X 13 X 12=26525 X 6 X 4=120
# samples 306
** MAII scorelog2(30/2652*10)=-3.14404636961671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMAD3 [Title/Abstract] AND MAP2K1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMAD3(67358698)-MAP2K1(66727365), # 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
HgeneSMAD3

GO:0000122

negative regulation of transcription by RNA polymerase II

8774881

HgeneSMAD3

GO:0006357

regulation of transcription by RNA polymerase II

21947082

HgeneSMAD3

GO:0007179

transforming growth factor beta receptor signaling pathway

9732876|18548003|21947082

HgeneSMAD3

GO:0007183

SMAD protein complex assembly

9111321|10823886

HgeneSMAD3

GO:0010628

positive regulation of gene expression

21307346

HgeneSMAD3

GO:0010718

positive regulation of epithelial to mesenchymal transition

21307346

HgeneSMAD3

GO:0030308

negative regulation of cell growth

8774881

HgeneSMAD3

GO:0045429

positive regulation of nitric oxide biosynthetic process

27038547

HgeneSMAD3

GO:0045599

negative regulation of fat cell differentiation

19816956

HgeneSMAD3

GO:0045893

positive regulation of transcription, DNA-templated

9111321|9311995|9732876

HgeneSMAD3

GO:0045944

positive regulation of transcription by RNA polymerase II

8774881|18832382

HgeneSMAD3

GO:0051481

negative regulation of cytosolic calcium ion concentration

27038547

HgeneSMAD3

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

HgeneSMAD3

GO:1901203

positive regulation of extracellular matrix assembly

21307346

TgeneMAP2K1

GO:0000187

activation of MAPK activity

10644344

TgeneMAP2K1

GO:0006468

protein phosphorylation

28166211

TgeneMAP2K1

GO:0008285

negative regulation of cell proliferation

9765203

TgeneMAP2K1

GO:0071902

positive regulation of protein serine/threonine kinase activity

8388392


check buttonFusion gene breakpoints across SMAD3 (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 MAP2K1 (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
ChimerDB4OVTCGA-59-2351-01ASMAD3chr15

67358698

+MAP2K1chr15

66727365

+
ChimerDB4OVTCGA-59-2351SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
ChimerDB4OVTCGA-59-2351-01ASMAD3chr15

67358698

+MAP2K1chr15

66727365

+


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Fusion Gene ORF analysis for SMAD3-MAP2K1

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
In-frameENST00000327367ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
5CDS-intronENST00000327367ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-3CDSENST00000559092ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-intronENST00000559092ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-3CDSENST00000540846ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-intronENST00000540846ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-3CDSENST00000439724ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-intronENST00000439724ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-3CDSENST00000537194ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
intron-intronENST00000537194ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727365

+
In-frameENST00000327367ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
5CDS-intronENST00000327367ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-3CDSENST00000559092ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-intronENST00000559092ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-3CDSENST00000540846ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-intronENST00000540846ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-3CDSENST00000439724ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-intronENST00000439724ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-3CDSENST00000537194ENST00000307102SMAD3chr15

67358698

+MAP2K1chr15

66727364

+
intron-intronENST00000537194ENST00000566326SMAD3chr15

67358698

+MAP2K1chr15

66727364

+

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)
ENST00000327367SMAD3chr1567358698+ENST00000307102MAP2K1chr1566727365+33155163101617435
ENST00000327367SMAD3chr1567358698+ENST00000307102MAP2K1chr1566727364+33155163101617435

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
ENST00000327367ENST00000307102SMAD3chr1567358698+MAP2K1chr1566727365+0.0013497380.99865025
ENST00000327367ENST00000307102SMAD3chr1567358698+MAP2K1chr1566727364+0.0013497380.99865025

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Fusion Genomic Features for SMAD3-MAP2K1


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)
SMAD3chr1567358698+MAP2K1chr1566727364+3.80E-111
SMAD3chr1567358698+MAP2K1chr1566727364+3.80E-111
SMAD3chr1567358698+MAP2K1chr1566727364+3.80E-111
SMAD3chr1567358698+MAP2K1chr1566727364+3.80E-111

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 SMAD3-MAP2K1


check button Go to

FGviewer for the breakpoints of chr15:67358698-chr15:66727365

.
- 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
.MAP2K1

Q02750

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: Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of 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. {ECO:0000269|PubMed:14737111, ECO:0000269|PubMed:17101779, ECO:0000269|PubMed:29433126}.

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
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011262_30726.666666666666668394.0Compositional biasNote=Pro-rich
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011262_30726.666666666666668394.0Compositional biasNote=Pro-rich
TgeneMAP2K1chr15:67358698chr15:66727364ENST0000030710201168_36126.666666666666668394.0DomainProtein kinase
TgeneMAP2K1chr15:67358698chr15:66727365ENST0000030710201168_36126.666666666666668394.0DomainProtein kinase
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011143_14626.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011150_15326.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011192_19526.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727364ENST0000030710201174_8226.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011143_14626.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011150_15326.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011192_19526.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727365ENST0000030710201174_8226.666666666666668394.0Nucleotide bindingATP
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011144_14626.666666666666668394.0RegionNote=Inhibitor binding
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011208_21226.666666666666668394.0RegionNote=Inhibitor binding
TgeneMAP2K1chr15:67358698chr15:66727364ENST00000307102011270_30726.666666666666668394.0RegionRAF1-binding
TgeneMAP2K1chr15:67358698chr15:66727364ENST0000030710201177_7826.666666666666668394.0RegionNote=Inhibitor binding
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011144_14626.666666666666668394.0RegionNote=Inhibitor binding
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011208_21226.666666666666668394.0RegionNote=Inhibitor binding
TgeneMAP2K1chr15:67358698chr15:66727365ENST00000307102011270_30726.666666666666668394.0RegionRAF1-binding
TgeneMAP2K1chr15:67358698chr15:66727365ENST0000030710201177_7826.666666666666668394.0RegionNote=Inhibitor binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMAD3chr15:67358698chr15:66727364ENST00000327367+1910_13668.66666666666667426.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727364ENST00000327367+19232_42568.66666666666667426.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727364ENST00000439724+1910_1360382.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727364ENST00000439724+19232_4250382.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727364ENST00000537194+1710_1360231.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727364ENST00000537194+17232_4250231.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727364ENST00000540846+1910_1360321.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727364ENST00000540846+19232_4250321.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727365ENST00000327367+1910_13668.66666666666667426.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727365ENST00000327367+19232_42568.66666666666667426.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727365ENST00000439724+1910_1360382.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727365ENST00000439724+19232_4250382.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727365ENST00000537194+1710_1360231.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727365ENST00000537194+17232_4250231.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727365ENST00000540846+1910_1360321.0DomainMH1
HgeneSMAD3chr15:67358698chr15:66727365ENST00000540846+19232_4250321.0DomainMH2
HgeneSMAD3chr15:67358698chr15:66727364ENST00000327367+19137_23168.66666666666667426.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727364ENST00000439724+19137_2310382.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727364ENST00000537194+17137_2310231.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727364ENST00000540846+19137_2310321.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727365ENST00000327367+19137_23168.66666666666667426.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727365ENST00000439724+19137_2310382.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727365ENST00000537194+17137_2310231.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:66727365ENST00000540846+19137_2310321.0RegionNote=Linker


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Fusion Gene Sequence for SMAD3-MAP2K1


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.
>In-frame_ENST00000327367_ENST00000307102_TCGA-59-2351-01A_SMAD3_chr15_67358698_+_MAP2K1_chr15_66727365_length(transcript)=3315nt_BP=516nt
ACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCT
CTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTT
CGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCC
GCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGG
CTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCA
GCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAGGACCAACTTGGAGGCCTTGCAGAA
GAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGA
TGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGC
CAGAAAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTA
CATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGATGGAGGTTCTCTGGATCAAGTCCT
GAAGAAAGCTGGAAGAATTCCTGAACAAATTTTAGGAAAAGTTAGCATTGCTGTAATAAAAGGCCTGACATATCTGAGGGAGAAGCACAA
GATCATGCACAGAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCT
CATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGCCAGAAAGACTCCAGGGGACTCATTACTCTGTGCAGTCAGA
CATCTGGAGCATGGGACTGTCTCTGGTAGAGATGGCGGTTGGGAGGTATCCCATCCCTCCTCCAGATGCCAAGGAGCTGGAGCTGATGTT
TGGGTGCCAGGTGGAAGGAGATGCGGCTGAGACCCCACCCAGGCCAAGGACCCCCGGGAGGCCCCTTAGCTCATACGGAATGGACAGCCG
ACCTCCCATGGCAATTTTTGAGTTGTTGGATTACATAGTCAACGAGCCTCCTCCAAAACTGCCCAGTGGAGTGTTCAGTCTGGAATTTCA
AGATTTTGTGAATAAATGCTTAATAAAAAACCCCGCAGAGAGAGCAGATTTGAAGCAACTCATGGTTCATGCTTTTATCAAGAGATCTGA
TGCTGAGGAAGTGGATTTTGCAGGTTGGCTCTGCTCCACCATCGGCCTTAACCAGCCCAGCACACCAACCCATGCTGCTGGCGTCTAAGT
GTTTGGGAAGCAACAAAGAGCGAGTCCCCTGCCCGGTGGTTTGCCATGTCGCTTTTGGGCCTCCTTCCCATGCCTGTCTCTGTTCAGATG
TGCATTTCACCTGTGACAAAGGATGAAGAACACAGCATGTGCCAAGATTCTACTCTTGTCATTTTTAATATTACTGTCTTTATTCTTATT
ACTATTATTGTTCCCCTAAGTGGATTGGCTTTGTGCTTGGGGCTATTTGTGTGTATGCTGATGATCAAAACCTGTGCCAGGCTGAATTAC
AGTGAAATTTTGGTGAATGTGGGTAGTCATTCTTACAATTGCACTGCTGTTCCTGCTCCATGACTGGCTGTCTGCCTGTATTTTCGGGAT
TCTTTGACATTTGGTGGTACTTTATTCTTGCTGGGCATACTTTCTCTCTAGGAGGGAGCCTTGTGAGATCCTTCACAGGCAGTGCATGTG
AAGCATGCTTTGCTGCTATGAAAATGAGCATCAGAGAGTGTACATCATGTTATTTTATTATTATTATTTGCTTTTCATGTAGAACTCAGC
AGTTGACATCCAAATCTAGCCAGAGCCCTTCACTGCCATGATAGCTGGGGCTTCACCAGTCTGTCTACTGTGGTGATCTGTAGACTTCTG
GTTGTATTTCTATATTTATTTTCAGTATACTGTGTGGGATACTTAGTGGTATGTCTCTTTAAGTTTTGATTAATGTTTCTTAAATGGAAT
TATTTTGAATGTCACAAATTGATCAAGATATTAAAATGTCGGATTTATCTTTCCCCATATCCAAGTACCAATGCTGTTGTAAACAACGTG
TATAGTGCCTAAAATTGTATGAAAATCCTTTTAACCATTTTAACCTAGATGTTTAACAAATCTAATCTCTTATTCTAATAAATATACTAT
GAAATAAAAAAAAAAGGATGAAAGCTACTTTTGCTTTTGTGGTAAGCTTTTCAGTTTCTTTAGTACACAAGAAATACTGGTTTAGCCAAG
CAACACTGGTGAGGGGGAAAGGTGAAGATGAGGAGGAGGCTGGAAGGCAGAAACAGGACACCGAGTTCAGTGCTTTGGACTAATGGGGCT
TCCTGTAATTTCAATCTCTGGACTCAGTCCAGCTCTTCTCACCCAACACCCTTATCTGTGACTCTTCCAACCACCTTCCTTGTGGGACCT
GTGAATAGATCCTGTATATTCCTTTGATCTCTTTTATACAAGGGAAAAGCAGCTGATGGGGGACTGGGAGCAAATCTGAGAAAAATGACA
AAACATTTCTTATCTCACAGAACATTTCTCATTTTCCATATACCAATAGTTGAGCTGAGGGCCTGCCTGCACTTTTAGGCTGTCATGCTC
ATAGGAGGGCCTTGCTGGTGGCCAGCTTGCCTACCTGGTGTGGGAGCTTTCTGCACAACATAGGACAGTCTGTCTCCTTTGCGACATTAA
GCAATGGTTTCCCTTCTTTCACCACTTACACTTAACCACACCTTCCTGGAAAGGAGGAATGTGCCTGGCGCTGGCTTTGTCATGCCTGTG
AGGTGGCAGTGATGTCACAAAGCCATTGGGAACTTCTTTTAGGTACATTTGAGGCTGCTGGTCAATACCTCTCCGCTCATTATTTTCTTT

>In-frame_ENST00000327367_ENST00000307102_TCGA-59-2351-01A_SMAD3_chr15_67358698_+_MAP2K1_chr15_66727365_length(amino acids)=435AA_start in transcript=310_stop in transcript=1617
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRTNLEALQKKLEELELDEQQRK
RLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGE
ISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRS
YMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIV

--------------------------------------------------------------
>In-frame_ENST00000327367_ENST00000307102_TCGA-59-2351_SMAD3_chr15_67358698_+_MAP2K1_chr15_66727364_length(transcript)=3315nt_BP=516nt
ACTTGGAGTCTCGCGGCCGCCGCCTCCGCCCCGCGTTCGGGGCCTTCCCGACCCTGCACTGCTGCCGTCCGCCCGCCCGGCCGCTCTTCT
CTTCGCCGTGGGAGCCGCTCCGGGCGCAGGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGCGGCCCGGCCCGGCGCCCCGGCAACTT
CGCCGAGAGTTGAGGCGAAGTTTGGGCGACCGCGGCAGGCCCCGGCCGAGCTCCCCTCTGCGCCCCCGGCGTCCCGTCGAGCCCAGCCCC
GCCGGGGGCGCTCCTCGCCGCCCGCGCGCCCTCCCCAGCCATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGG
CTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCA
GCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTCAACACCAAGTGCATCACCATCCCCAGGACCAACTTGGAGGCCTTGCAGAA
GAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGA
TGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAATGGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGC
CAGAAAGCTAATTCATCTGGAGATCAAACCCGCAATCCGGAACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTA
CATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAGATCAGTATCTGCATGGAGCACATGGATGGAGGTTCTCTGGATCAAGTCCT
GAAGAAAGCTGGAAGAATTCCTGAACAAATTTTAGGAAAAGTTAGCATTGCTGTAATAAAAGGCCTGACATATCTGAGGGAGAAGCACAA
GATCATGCACAGAGATGTCAAGCCCTCCAACATCCTAGTCAACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCT
CATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCCTACATGTCGCCAGAAAGACTCCAGGGGACTCATTACTCTGTGCAGTCAGA
CATCTGGAGCATGGGACTGTCTCTGGTAGAGATGGCGGTTGGGAGGTATCCCATCCCTCCTCCAGATGCCAAGGAGCTGGAGCTGATGTT
TGGGTGCCAGGTGGAAGGAGATGCGGCTGAGACCCCACCCAGGCCAAGGACCCCCGGGAGGCCCCTTAGCTCATACGGAATGGACAGCCG
ACCTCCCATGGCAATTTTTGAGTTGTTGGATTACATAGTCAACGAGCCTCCTCCAAAACTGCCCAGTGGAGTGTTCAGTCTGGAATTTCA
AGATTTTGTGAATAAATGCTTAATAAAAAACCCCGCAGAGAGAGCAGATTTGAAGCAACTCATGGTTCATGCTTTTATCAAGAGATCTGA
TGCTGAGGAAGTGGATTTTGCAGGTTGGCTCTGCTCCACCATCGGCCTTAACCAGCCCAGCACACCAACCCATGCTGCTGGCGTCTAAGT
GTTTGGGAAGCAACAAAGAGCGAGTCCCCTGCCCGGTGGTTTGCCATGTCGCTTTTGGGCCTCCTTCCCATGCCTGTCTCTGTTCAGATG
TGCATTTCACCTGTGACAAAGGATGAAGAACACAGCATGTGCCAAGATTCTACTCTTGTCATTTTTAATATTACTGTCTTTATTCTTATT
ACTATTATTGTTCCCCTAAGTGGATTGGCTTTGTGCTTGGGGCTATTTGTGTGTATGCTGATGATCAAAACCTGTGCCAGGCTGAATTAC
AGTGAAATTTTGGTGAATGTGGGTAGTCATTCTTACAATTGCACTGCTGTTCCTGCTCCATGACTGGCTGTCTGCCTGTATTTTCGGGAT
TCTTTGACATTTGGTGGTACTTTATTCTTGCTGGGCATACTTTCTCTCTAGGAGGGAGCCTTGTGAGATCCTTCACAGGCAGTGCATGTG
AAGCATGCTTTGCTGCTATGAAAATGAGCATCAGAGAGTGTACATCATGTTATTTTATTATTATTATTTGCTTTTCATGTAGAACTCAGC
AGTTGACATCCAAATCTAGCCAGAGCCCTTCACTGCCATGATAGCTGGGGCTTCACCAGTCTGTCTACTGTGGTGATCTGTAGACTTCTG
GTTGTATTTCTATATTTATTTTCAGTATACTGTGTGGGATACTTAGTGGTATGTCTCTTTAAGTTTTGATTAATGTTTCTTAAATGGAAT
TATTTTGAATGTCACAAATTGATCAAGATATTAAAATGTCGGATTTATCTTTCCCCATATCCAAGTACCAATGCTGTTGTAAACAACGTG
TATAGTGCCTAAAATTGTATGAAAATCCTTTTAACCATTTTAACCTAGATGTTTAACAAATCTAATCTCTTATTCTAATAAATATACTAT
GAAATAAAAAAAAAAGGATGAAAGCTACTTTTGCTTTTGTGGTAAGCTTTTCAGTTTCTTTAGTACACAAGAAATACTGGTTTAGCCAAG
CAACACTGGTGAGGGGGAAAGGTGAAGATGAGGAGGAGGCTGGAAGGCAGAAACAGGACACCGAGTTCAGTGCTTTGGACTAATGGGGCT
TCCTGTAATTTCAATCTCTGGACTCAGTCCAGCTCTTCTCACCCAACACCCTTATCTGTGACTCTTCCAACCACCTTCCTTGTGGGACCT
GTGAATAGATCCTGTATATTCCTTTGATCTCTTTTATACAAGGGAAAAGCAGCTGATGGGGGACTGGGAGCAAATCTGAGAAAAATGACA
AAACATTTCTTATCTCACAGAACATTTCTCATTTTCCATATACCAATAGTTGAGCTGAGGGCCTGCCTGCACTTTTAGGCTGTCATGCTC
ATAGGAGGGCCTTGCTGGTGGCCAGCTTGCCTACCTGGTGTGGGAGCTTTCTGCACAACATAGGACAGTCTGTCTCCTTTGCGACATTAA
GCAATGGTTTCCCTTCTTTCACCACTTACACTTAACCACACCTTCCTGGAAAGGAGGAATGTGCCTGGCGCTGGCTTTGTCATGCCTGTG
AGGTGGCAGTGATGTCACAAAGCCATTGGGAACTTCTTTTAGGTACATTTGAGGCTGCTGGTCAATACCTCTCCGCTCATTATTTTCTTT

>In-frame_ENST00000327367_ENST00000307102_TCGA-59-2351_SMAD3_chr15_67358698_+_MAP2K1_chr15_66727364_length(amino acids)=435AA_start in transcript=310_stop in transcript=1617
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRTNLEALQKKLEELELDEQQRK
RLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGE
ISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRS
YMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIV

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Fusion Gene PPI Analysis for SMAD3-MAP2K1


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 SMAD3-MAP2K1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMAP2K1Q02750DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K1Q02750DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K1Q02750DB06616BosutinibInhibitorSmall moleculeApproved
TgeneMAP2K1Q02750DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K1Q02750DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K1Q02750DB08911TrametinibAntagonist|InhibitorSmall moleculeApproved
TgeneMAP2K1Q02750DB05239CobimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K1Q02750DB05239CobimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K1Q02750DB05239CobimetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K1Q02750DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K1Q02750DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational
TgeneMAP2K1Q02750DB11689SelumetinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for SMAD3-MAP2K1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD3C3151087LOEYS-DIETZ SYNDROME 38CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSMAD3C4707243Familial thoracic aortic aneurysm and aortic dissection5CLINGEN;GENOMICS_ENGLAND
HgeneSMAD3C0029408Degenerative polyarthritis2CTD_human
HgeneSMAD3C0086743Osteoarthrosis Deformans2CTD_human
HgeneSMAD3C0376634Craniofacial Abnormalities2CTD_human
HgeneSMAD3C2697932Loeys-Dietz Syndrome2CTD_human;GENOMICS_ENGLAND
HgeneSMAD3C0002949Aneurysm, Dissecting1CTD_human
HgeneSMAD3C0003486Aortic Aneurysm1CTD_human
HgeneSMAD3C0009171Cocaine Abuse1CTD_human
HgeneSMAD3C0009402Colorectal Carcinoma1CTD_human;UNIPROT
HgeneSMAD3C0009404Colorectal Neoplasms1CTD_human
HgeneSMAD3C0010346Crohn Disease1CTD_human
HgeneSMAD3C0023267Fibroid Tumor1CTD_human
HgeneSMAD3C0023890Liver Cirrhosis1CTD_human
HgeneSMAD3C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneSMAD3C0029410Osteoarthritis of hip1CTD_human
HgeneSMAD3C0034067Pulmonary Emphysema1GENOMICS_ENGLAND
HgeneSMAD3C0041956Ureteral obstruction1CTD_human
HgeneSMAD3C0042133Uterine Fibroids1CTD_human
HgeneSMAD3C0042138Uterine Neoplasms1CTD_human
HgeneSMAD3C0087031Juvenile-Onset Still Disease1CTD_human
HgeneSMAD3C0153567Uterine Cancer1CTD_human
HgeneSMAD3C0156147Crohn's disease of large bowel1CTD_human
HgeneSMAD3C0236736Cocaine-Related Disorders1CTD_human
HgeneSMAD3C0239946Fibrosis, Liver1CTD_human
HgeneSMAD3C0267380Crohn's disease of the ileum1CTD_human
HgeneSMAD3C0340643Dissection of aorta1CTD_human
HgeneSMAD3C0600427Cocaine Dependence1CTD_human
HgeneSMAD3C0600519Ventricular Remodeling1CTD_human
HgeneSMAD3C0600520Left Ventricle Remodeling1CTD_human
HgeneSMAD3C0678202Regional enteritis1CTD_human
HgeneSMAD3C0949272IIeocolitis1CTD_human
HgeneSMAD3C1836635Loeys-Dietz Aortic Aneurysm Syndrome1CTD_human
HgeneSMAD3C3495559Juvenile arthritis1CTD_human
HgeneSMAD3C3714758Juvenile psoriatic arthritis1CTD_human
HgeneSMAD3C4277533Dissection, Blood Vessel1CTD_human
HgeneSMAD3C4551955Loeys-Dietz Syndrome, Type 1a1CTD_human
HgeneSMAD3C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneSMAD3C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneMAP2K1C1275081Cardio-facio-cutaneous syndrome10CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneMAP2K1C0028326Noonan Syndrome6CLINGEN;CTD_human
TgeneMAP2K1C3809006CARDIOFACIOCUTANEOUS SYNDROME 35GENOMICS_ENGLAND;UNIPROT
TgeneMAP2K1C0175704LEOPARD Syndrome4CLINGEN;GENOMICS_ENGLAND
TgeneMAP2K1C0007786Brain Ischemia1CTD_human
TgeneMAP2K1C0023443Hairy Cell Leukemia1CTD_human
TgeneMAP2K1C0025202melanoma1CGI;CTD_human
TgeneMAP2K1C0041409Turner Syndrome, Male1CTD_human
TgeneMAP2K1C0041696Unipolar Depression1PSYGENET
TgeneMAP2K1C0152013Adenocarcinoma of lung (disorder)1CGI;CTD_human
TgeneMAP2K1C0587248Costello syndrome (disorder)1CLINGEN;CTD_human
TgeneMAP2K1C0917798Cerebral Ischemia1CTD_human
TgeneMAP2K1C1269683Major Depressive Disorder1PSYGENET
TgeneMAP2K1C1527404Female Pseudo-Turner Syndrome1CTD_human
TgeneMAP2K1C2063866Depressive Disorder, Treatment-Resistant1PSYGENET
TgeneMAP2K1C2931456Prostate cancer, familial1CTD_human
TgeneMAP2K1C4551484Leopard Syndrome 11GENOMICS_ENGLAND
TgeneMAP2K1C4551602Noonan Syndrome 11CTD_human
TgeneMAP2K1C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human