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Fusion gene ID: 32175 |
FusionGeneSummary for RPS6_MAP2K1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPS6_MAP2K1 | Fusion gene ID: 32175 | Hgene | Tgene | Gene symbol | RPS6 | MAP2K1 | Gene ID | 6194 | 5604 |
| Gene name | ribosomal protein S6 | mitogen-activated protein kinase kinase 1 | |
| Synonyms | S6 | CFC3|MAPKK1|MEK1|MKK1|PRKMK1 | |
| Cytomap | 9p22.1 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 40S ribosomal protein S6phosphoprotein NP33small ribosomal subunit protein eS6 | 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 | P62753 | Q02750 | |
| Ensembl transtripts involved in fusion gene | ENST00000380394, ENST00000498815, ENST00000380384, ENST00000315377, ENST00000380381, | ENST00000307102, ENST00000566326, | |
| Fusion gene scores | * DoF score | 14 X 14 X 2=392 | 2 X 2 X 2=8 |
| # samples | 18 | 2 | |
| ** MAII score | log2(18/392*10)=-1.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RPS6 [Title/Abstract] AND MAP2K1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | RPS6 | GO:0031929 | TOR signaling | 16428328 |
| Hgene | RPS6 | GO:0043065 | positive regulation of apoptotic process | 18362888 |
| 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 |
| ChiTaRS3.1 | CD520454 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| * 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 |
| intron-intron | ENST00000380394 | ENST00000307102 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000380394 | ENST00000566326 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000498815 | ENST00000307102 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000498815 | ENST00000566326 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000380384 | ENST00000307102 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000380384 | ENST00000566326 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000315377 | ENST00000307102 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000315377 | ENST00000566326 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000380381 | ENST00000307102 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
| intron-intron | ENST00000380381 | ENST00000566326 | RPS6 | chr9 | 19378437 | - | MAP2K1 | chr15 | 66738825 | - |
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FusionProtFeatures for RPS6_MAP2K1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPS6 | MAP2K1 |
| May play an important role in controlling cell growthand proliferation through the selective translation of particularclasses of mRNA. | 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 |
| - 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 |
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FusionGeneSequence for RPS6_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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for RPS6_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 |
| - 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 RPS6_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 |
| Hgene | RPS6 | P62753 | DB11638 | Artenimol | 40S ribosomal protein S6 | small molecule | approved|investigational |
| 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 RPS6_MAP2K1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RPS6 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | RPS6 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | RPS6 | C2239176 | Liver carcinoma | 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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