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Fusion gene ID: 20799 |
FusionGeneSummary for MAP2K2_CAMKK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAP2K2_CAMKK1 | Fusion gene ID: 20799 | Hgene | Tgene | Gene symbol | MAP2K2 | CAMKK1 | Gene ID | 5605 | 84254 |
| Gene name | mitogen-activated protein kinase kinase 2 | calcium/calmodulin dependent protein kinase kinase 1 | |
| Synonyms | CFC4|MAPKK2|MEK2|MKK2|PRKMK2 | CAMKKA | |
| Cytomap | 19p13.3 | 17p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dual specificity mitogen-activated protein kinase kinase 2ERK activator kinase 2MAP kinase kinase 2MAPK/ERK kinase 2mitogen-activated protein kinase kinase 2, p45 | calcium/calmodulin-dependent protein kinase kinase 1CAMKK alpha proteincaM-KK 1caM-KK alphacaM-kinase IV kinasecaM-kinase kinase 1caM-kinase kinase alphacaMKK 1calcium/calmodulin-dependent protein kinase kinase 1, alphacalcium/calmodulin-dependen | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P36507 | Q8N5S9 | |
| Ensembl transtripts involved in fusion gene | ENST00000262948, ENST00000394867, ENST00000599345, | ENST00000381769, ENST00000348335, ENST00000381771, ENST00000158166, | |
| Fusion gene scores | * DoF score | 8 X 4 X 6=192 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/192*10)=-1.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MAP2K2 [Title/Abstract] AND CAMKK1 [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 | MAP2K2 | GO:0036289 | peptidyl-serine autophosphorylation | 8388392 |
| Hgene | MAP2K2 | 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 | BRCA | TCGA-AQ-A0Y5-01A | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| * 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 |
| Frame-shift | ENST00000262948 | ENST00000381769 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5CDS-5UTR | ENST00000262948 | ENST00000348335 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5CDS-5UTR | ENST00000262948 | ENST00000381771 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5CDS-5UTR | ENST00000262948 | ENST00000158166 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| Frame-shift | ENST00000394867 | ENST00000381769 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5CDS-5UTR | ENST00000394867 | ENST00000348335 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5CDS-5UTR | ENST00000394867 | ENST00000381771 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5CDS-5UTR | ENST00000394867 | ENST00000158166 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5UTR-3CDS | ENST00000599345 | ENST00000381769 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5UTR-5UTR | ENST00000599345 | ENST00000348335 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5UTR-5UTR | ENST00000599345 | ENST00000381771 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
| 5UTR-5UTR | ENST00000599345 | ENST00000158166 | MAP2K2 | chr19 | 4110507 | - | CAMKK1 | chr17 | 3789024 | - |
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FusionProtFeatures for MAP2K2_CAMKK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAP2K2 | CAMKK1 |
| Catalyzes the concomitant phosphorylation of a threonineand a tyrosine residue in a Thr-Glu-Tyr sequence located in MAPkinases. Activates the ERK1 and ERK2 MAP kinases (By similarity).{ECO:0000250}. | Calcium/calmodulin-dependent protein kinase that belongsto a proposed calcium-triggered signaling cascade involved in anumber of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1Gand CAMK4. Involved in regulating cell apoptosis. Promotes cellsurvival by phosphorylating AKT1/PKB that inhibits pro-apoptoticBAD/Bcl2-antagonist of cell death. {ECO:0000269|PubMed:12935886}. |
| 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 MAP2K2_CAMKK1 |
| 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 MAP2K2_CAMKK1 |
| 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 |
| MAP2K2 | ARAF, MAPK3, MAPK1, MAP2K2, MEPCE, COPS5, YWHAB, MAP2K1, WDR83, RAF1, MAPK8, LIG4, BRAF, PEX14, ZNF207, FAM65B, IQGAP1, NFE2L2, EGFR, CCNDBP1, ART3, ACTL6A, TNF, PDLIM5, RPE, TXN, XPO1, SNW1, HSP90AA4P, HSP90AB3P, HSP90AB4P, HSP90AA5P, SERPINB2, HSPA8, TUBA4A, CD70, CCRN4L, DLD, TRIM25 | CAMKK1 | APP, HSP90AA1, YWHAQ, GCH1, YWHAB, PRKAA1, ANXA7, CSNK1E, DDB1, H3F3A, NTHL1, RPS10, SAFB2, NSA2, C3orf17, FBXL6, ELAC2, KIAA2013, BRINP1, KIAA0355, TRIM11, LPIN3, RUVBL2, RUVBL1 |
| - 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 MAP2K2_CAMKK1 |
| 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 | MAP2K2 | P36507 | DB06616 | Bosutinib | Dual specificity mitogen-activated protein kinase kinase 2 | small molecule | approved |
| Hgene | MAP2K2 | P36507 | DB08911 | Trametinib | Dual specificity mitogen-activated protein kinase kinase 2 | small molecule | approved |
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RelatedDiseases for MAP2K2_CAMKK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAP2K2 | C3809007 | CARDIOFACIOCUTANEOUS SYNDROME 4 | 3 | UNIPROT |
| Hgene | MAP2K2 | C1275081 | Cardio-facio-cutaneous syndrome | 2 | CTD_human;ORPHANET |
| Hgene | MAP2K2 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | MAP2K2 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | MAP2K2 | C0028326 | Noonan Syndrome | 1 | CTD_human |
| Hgene | MAP2K2 | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
| Tgene | CAMKK1 | C0027765 | nervous system disorder | 1 | CTD_human |
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