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Fusion gene ID: 34741 |
FusionGeneSummary for SMAD3_MAP2K1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD3_MAP2K1 | Fusion gene ID: 34741 | Hgene | Tgene | Gene symbol | SMAD3 | MAP2K1 | Gene ID | 4088 | 5604 |
| Gene name | SMAD family member 3 | mitogen-activated protein kinase kinase 1 | |
| Synonyms | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | CFC3|MAPKK1|MEK1|MKK1|PRKMK1 | |
| Cytomap | 15q22.33 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mothers 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 homolog | dual 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 date | 20180522 | 20180523 | |
| UniProtAcc | P84022 | Q02750 | |
| Ensembl transtripts involved in fusion gene | ENST00000327367, ENST00000559092, ENST00000540846, ENST00000439724, ENST00000537194, | ENST00000307102, ENST00000566326, | |
| Fusion gene scores | * DoF score | 15 X 10 X 10=1500 | 2 X 2 X 2=8 |
| # samples | 22 | 2 | |
| ** MAII score | log2(22/1500*10)=-2.76938707185858 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SMAD3 [Title/Abstract] AND MAP2K1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Kinase involved fusion gene, inframe and retained kinase domain. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | SMAD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8774881 |
| Hgene | SMAD3 | GO:0006357 | regulation of transcription by RNA polymerase II | 21947082 |
| Hgene | SMAD3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876|18548003|21947082 |
| Hgene | SMAD3 | GO:0007183 | SMAD protein complex assembly | 9111321|10823886 |
| Hgene | SMAD3 | GO:0010628 | positive regulation of gene expression | 21307346 |
| Hgene | SMAD3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 21307346 |
| Hgene | SMAD3 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
| Hgene | SMAD3 | GO:0030308 | negative regulation of cell growth | 8774881 |
| Hgene | SMAD3 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 27038547 |
| Hgene | SMAD3 | GO:0045599 | negative regulation of fat cell differentiation | 19816956 |
| Hgene | SMAD3 | GO:0045893 | positive regulation of transcription, DNA-templated | 9111321|9311995|9732876 |
| Hgene | SMAD3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8774881|18832382 |
| Hgene | SMAD3 | GO:0051481 | negative regulation of cytosolic calcium ion concentration | 27038547 |
| Hgene | SMAD3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
| Hgene | SMAD3 | GO:1901203 | positive regulation of extracellular matrix assembly | 21307346 |
| Tgene | MAP2K1 | GO:0000187 | activation of MAPK activity | 10644344 |
| Tgene | MAP2K1 | GO:0006468 | protein phosphorylation | 28166211 |
| Tgene | MAP2K1 | GO:0008285 | negative regulation of cell proliferation | 9765203 |
| Tgene | MAP2K1 | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 8388392 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | OV | TCGA-59-2351-01A | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000327367 | ENST00000307102 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| 5CDS-intron | ENST00000327367 | ENST00000566326 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-3CDS | ENST00000559092 | ENST00000307102 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-intron | ENST00000559092 | ENST00000566326 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-3CDS | ENST00000540846 | ENST00000307102 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-intron | ENST00000540846 | ENST00000566326 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-3CDS | ENST00000439724 | ENST00000307102 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-intron | ENST00000439724 | ENST00000566326 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-3CDS | ENST00000537194 | ENST00000307102 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
| intron-intron | ENST00000537194 | ENST00000566326 | SMAD3 | chr15 | 67358698 | + | MAP2K1 | chr15 | 66727365 | + |
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FusionProtFeatures for SMAD3_MAP2K1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMAD3 | MAP2K1 |
| Dual specificity protein kinase which acts as anessential component of the MAP kinase signal transduction pathway.Binding of extracellular ligands such as growth factors, cytokinesand hormones to their cell-surface receptors activates RAS andthis initiates RAF1 activation. RAF1 then further activates thedual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. BothMAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERKcascade, and catalyze the concomitant phosphorylation of athreonine and a tyrosine residue in a Thr-Glu-Tyr sequence locatedin the extracellular signal-regulated kinases MAPK3/ERK1 andMAPK1/ERK2, leading to their activation and further transductionof the signal within the MAPK/ERK cascade. Depending on thecellular context, this pathway mediates diverse biologicalfunctions such as cell growth, adhesion, survival anddifferentiation, predominantly through the regulation oftranscription, metabolism and cytoskeletal rearrangements. Onetarget of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotesdifferentiation and apoptosis. MAP2K1/MEK1 has been shown toexport PPARG from the nucleus. The MAPK/ERK cascade is alsoinvolved in the regulation of endosomal dynamics, includinglysosome processing and endosome cycling through the perinuclearrecycling compartment (PNRC), as well as in the fragmentation ofthe Golgi apparatus during mitosis. {ECO:0000269|PubMed:14737111,ECO:0000269|PubMed:17101779}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 262_307 | 26 | 394 | Compositional bias | Note=Pro-rich |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 68_361 | 26 | 394 | Domain | Protein kinase |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 143_146 | 26 | 394 | Nucleotide binding | ATP |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 150_153 | 26 | 394 | Nucleotide binding | ATP |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 192_195 | 26 | 394 | Nucleotide binding | ATP |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 74_82 | 26 | 394 | Nucleotide binding | ATP |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 144_146 | 26 | 394 | Region | Note=Inhibitor binding |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 208_212 | 26 | 394 | Region | Note=Inhibitor binding |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 270_307 | 26 | 394 | Region | RAF1-binding |
| Tgene | >MAP2K1 | chr15:67358698 | chr15:66727365 | ENST00000307102 | + | 0 | 11 | 77_78 | 26 | 394 | Region | Note=Inhibitor binding |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000327367 | + | 1 | 9 | 10_136 | 68 | 426 | Domain | MH1 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000327367 | + | 1 | 9 | 232_425 | 68 | 426 | Domain | MH2 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000439724 | + | 1 | 9 | 10_136 | -9 | 382 | Domain | MH1 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000439724 | + | 1 | 9 | 232_425 | -9 | 382 | Domain | MH2 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000537194 | + | 1 | 7 | 10_136 | -76 | 231 | Domain | MH1 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000537194 | + | 1 | 7 | 232_425 | -76 | 231 | Domain | MH2 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000540846 | + | 1 | 9 | 10_136 | -126 | 321 | Domain | MH1 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000540846 | + | 1 | 9 | 232_425 | -126 | 321 | Domain | MH2 |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000327367 | + | 1 | 9 | 137_231 | 68 | 426 | Region | Note=Linker |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000439724 | + | 1 | 9 | 137_231 | -9 | 382 | Region | Note=Linker |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000537194 | + | 1 | 7 | 137_231 | -76 | 231 | Region | Note=Linker |
| Hgene | >SMAD3 | chr15:67358698 | chr15:66727365 | ENST00000540846 | + | 1 | 9 | 137_231 | -126 | 321 | Region | Note=Linker |
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FusionGeneSequence for SMAD3_MAP2K1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_SMAD3_ENST00000327367_chr15_67358698_+_MAP2K1_ENST00000307102_chr15_66727365_+_436aa MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRTNLEALQKKLEELELDEQQRK RLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGE ISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRS YMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SMAD3_ENST00000327367_chr15_67358698_+_MAP2K1_ENST00000307102_chr15_66727365_+_1308nt ATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAGGGCGAGCAGAACGGGCAGGAGGAGAAATGG TGCGAGAAGGCGGTCAAGAGCCTGGTCAAGAAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTC AACACCAAGTGCATCACCATCCCCAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAG CGCCTTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGAGAACTGAAGGATGACGACTTTGAGAAGATCAGTGAGCTGGGGGCTGGCAAT GGCGGTGTGGTGTTCAAGGTCTCCCACAAGCCTTCTGGCCTGGTCATGGCCAGAAAGCTAATTCATCTGGAGATCAAACCCGCAATCCGG AACCAGATCATAAGGGAGCTGCAGGTTCTGCATGAGTGCAACTCTCCGTACATCGTGGGCTTCTATGGTGCGTTCTACAGCGATGGCGAG ATCAGTATCTGCATGGAGCACATGGATGGAGGTTCTCTGGATCAAGTCCTGAAGAAAGCTGGAAGAATTCCTGAACAAATTTTAGGAAAA GTTAGCATTGCTGTAATAAAAGGCCTGACATATCTGAGGGAGAAGCACAAGATCATGCACAGAGATGTCAAGCCCTCCAACATCCTAGTC AACTCCCGTGGGGAGATCAAGCTCTGTGACTTTGGGGTCAGCGGGCAGCTCATCGACTCCATGGCCAACTCCTTCGTGGGCACAAGGTCC TACATGTCGCCAGAAAGACTCCAGGGGACTCATTACTCTGTGCAGTCAGACATCTGGAGCATGGGACTGTCTCTGGTAGAGATGGCGGTT GGGAGGTATCCCATCCCTCCTCCAGATGCCAAGGAGCTGGAGCTGATGTTTGGGTGCCAGGTGGAAGGAGATGCGGCTGAGACCCCACCC AGGCCAAGGACCCCCGGGAGGCCCCTTAGCTCATACGGAATGGACAGCCGACCTCCCATGGCAATTTTTGAGTTGTTGGATTACATAGTC AACGAGCCTCCTCCAAAACTGCCCAGTGGAGTGTTCAGTCTGGAATTTCAAGATTTTGTGAATAAATGCTTAATAAAAAACCCCGCAGAG AGAGCAGATTTGAAGCAACTCATGGTTCATGCTTTTATCAAGAGATCTGATGCTGAGGAAGTGGATTTTGCAGGTTGGCTCTGCTCCACC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SMAD3_ENST00000327367_chr15_67358698_+_MAP2K1_ENST00000307102_chr15_66727365_+_3315nt 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 |
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FusionGenePPI for SMAD3_MAP2K1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SMAD3 | ATF2, NEDD9, AR, BRCA2, PML, ZFYVE9, ANAPC10, FOXO1, FOXO4, FOXO3, SMAD4, BTRC, PIAS3, RNF111, NOTCH1, EID2, NR3C1, SKI, HIPK2, PIAS4, ZEB1, ATF3, DVL1, ERBB2IP, TGIF1, TGIF2, MDM4, SKIL, CDC27, CDC16, DAB2, JUN, FOS, KPNB1, RBL1, E2F4, CTNNB1, RUNX2, TFE3, MAX, SMURF2, AKT1, SMAD2, MECOM, FOXH1, MEN1, NFYC, MYC, SP1, JUNB, JUND, RUNX1, RUNX3, SNW1, STRAP, SMAD7, ACVR1B, CEBPA, CEBPB, CEBPD, LEF1, PIN1, CSNK1G2, GSK3B, KDM5C, BMP7, FOXL2, UCHL5, PRDM16, BPTF, CDC25A, CUL1, FLI1, HOXC11, SS18L1, ZBTB3, NEDD4, EP300, CITED2, WWP1, SMURF1, ITCH, GRIP1, MYOCD, YY1, MED15, MED24, MED6, KAT2B, HDAC5, HDAC4, CREBBP, TOB1, BRCA1, SOX9, PITX1, PITX2, HDAC1, SIN3A, VDR, KAT2A, SMARCC2, ARID1A, SMARCC1, SMARCA4, TRIM33, NCOA3, RBX1, CTCF, KDM6B, ESR1, SRY, ACTB, PRTN3, SREBF2, STUB1, WWP2, MKL1, USP9X, NFIC, HNF4A, TP53, NUP214, NUP153, USP15, CDK8, CDK9, MAPK1, YAP1, DACH1, EPAS1, RGCC, SUV39H1, TCF12, CBL, ZEB2, NEDD4L, TRIB3, HGS, PAX6, ZMIZ1, PIAS2, CSNK1D, DDX3Y, HSPA4, LEMD3, PJA1, RPL3, ATXN2L, FAM83G, CHD8, RPSAP15, SLC25A12, SLC9A3R2, LRCH1, YTHDF2, TCP1, EPB41L5, PTPN6, DOCK9, PSPC1, DDX4, DDX3X, DNAJA2, SIK3, U2AF2, DHX8, C1orf116, ITGB4, CDK11A, RAB11FIP5, SMAD1, IRS1, SMAD5, DYRK1A, BUB3, SQRDL, PABPC1, DCAF7, OPA1, VAV2, USP7, RPL4, TGFBR1, S100A4, CHUK, APP, SMAD3, CDK4, CDK2, HIF1A, ELAC2, NOTCH4, PSMD11, MCM3AP, CYP11A1, RPLP0, SNRNP70, XRCC6, HIVEP1, FLNA, TGM2, PPP2R1A, ZNF83, CSH2, ZBTB16, PCDH1, PAPPA, TMED1, ANK3, EBI3, NCOA6, PLAG1, CXXC5, KANSL1, ZNF329, GGA1, SVEP1, RANBP9, SAP130, C10orf54, HEYL, CFDP1, ST6GALNAC2, PRDM4, PLAGL1, KMT2B, KDM2A, MTF2, HEY1, GMEB1, SPTBN1, DEDD, SH2D2A, LCK, PIK3CA, KLF5, IRF7, TSC2, FHL1, FHL2, FHL3, TGFB1I1, BAG3, MYD88, PCK2, SQSTM1, PPP1R12C, RNF31, ZC3H12A, TSC22D4, SETD2, CHRD, APMAP, HNRNPK, PARP4, PLG, CFH, AATF, FBLN1, ZMYND11, UBQLN4, TDP2, TF, APOB, NR4A1, HP, ISL1, LBP, PROX1, RCVRN, RELA, RPA1, TLR4, CFLAR, GIT2, TANK, DNAJB4, CORO1A, ZCCHC14, SERTAD1, RIOK2, CPTP, OTUB1, TP63, TRIM62, FOXM1, MAFK, BACH1, AES, PHC2, MEOX2, BLZF1, CPSF7, CCDC33, TEKT4, PPARG, DDX5, EIF4B, XPO6, SMAD9, LACRT, LDLRAD4, NFIA, NCOA1, PARD3, CAMK2G, ETS1, MAP3K7, MAPK8, CDKN1A, NF2, DNMT3L, TRIM25 | MAP2K1 | PEBP4, KSR2, MAPK1, MAPK3, RAF1, PEBP1, MAPK8IP3, LAMTOR2, LAMTOR3, VAV1, MAP3K8, HRAS, MAP3K1, GRB10, MAP2K1, MAP3K4, PLAU, WNK1, YWHAB, MAP2K2, ARRB2, BRAF, ELAVL1, KSR1, BRAP, WDR83, MAPK8, LSP1, VCP, ARAF, HSPA1A, YWHAZ, HSPA8, YWHAE, HNRNPD, YAP1, BTRC, IQGAP1, NFE2L2, PSMD10, BANP, PPARG, UBE2I, NUFIP1, DGUOK, PDLIM5, PLIN3, RPE, PTPN11, KRAS, POC5, TCTN1, MYC, DCP1A, THOC2, SKA3, CEP170P1, ZNF277, RBM33, BRD4, CHEK1, VHL, HDAC2, FGB, RNASE9, TUSC3, MTOR, TTN, FH, ING5, BLM, ATAD5, STK11, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMAD3_MAP2K1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MAP2K1 | Q02750 | DB06616 | Bosutinib | Dual specificity mitogen-activated protein kinase kinase 1 | small molecule | approved |
| Tgene | MAP2K1 | Q02750 | DB08911 | Trametinib | Dual specificity mitogen-activated protein kinase kinase 1 | small molecule | approved |
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RelatedDiseases for SMAD3_MAP2K1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMAD3 | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
| Hgene | SMAD3 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | SMAD3 | C3151087 | LOEYS-DIETZ SYNDROME 3 | 2 | ORPHANET;UNIPROT |
| Hgene | SMAD3 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Hgene | SMAD3 | C0003486 | Aortic Aneurysm | 1 | CTD_human;HPO |
| Hgene | SMAD3 | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | SMAD3 | C0023267 | Fibroid Tumor | 1 | CTD_human |
| Hgene | SMAD3 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | SMAD3 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Hgene | SMAD3 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Hgene | SMAD3 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| Hgene | SMAD3 | C2697932 | Loeys-Dietz Syndrome | 1 | CTD_human |
| Hgene | SMAD3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | MAP2K1 | C1275081 | Cardio-facio-cutaneous syndrome | 2 | CTD_human;ORPHANET |
| Tgene | MAP2K1 | C3809006 | CARDIOFACIOCUTANEOUS SYNDROME 3 | 2 | UNIPROT |
| Tgene | MAP2K1 | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | MAP2K1 | C0023443 | Hairy Cell Leukemia | 1 | CTD_human |
| Tgene | MAP2K1 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | MAP2K1 | C0028326 | Noonan Syndrome | 1 | CTD_human |
| Tgene | MAP2K1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | MAP2K1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | MAP2K1 | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
| Tgene | MAP2K1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | MAP2K1 | C2063866 | Depressive Disorder, Treatment-Resistant | 1 | PSYGENET |
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