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Fusion gene ID: 20985 |
FusionGeneSummary for MAPK1_CLIP2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MAPK1_CLIP2 | Fusion gene ID: 20985 | Hgene | Tgene | Gene symbol | MAPK1 | CLIP2 | Gene ID | 5594 | 7461 |
Gene name | mitogen-activated protein kinase 1 | CAP-Gly domain containing linker protein 2 | |
Synonyms | ERK|ERK-2|ERK2|ERT1|MAPK2|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk|p42-MAPK | CLIP|CLIP-115|CYLN2|WBSCR3|WBSCR4|WSCR3|WSCR4 | |
Cytomap | 22q11.22 | 7q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | mitogen-activated protein kinase 1MAP kinase 1MAP kinase 2MAP kinase isoform p42MAPK 2extracellular signal-regulated kinase 2mitogen-activated protein kinase 2protein tyrosine kinase ERK2 | CAP-Gly domain-containing linker protein 2Williams-Beuren syndrome chromosome region 3Williams-Beuren syndrome chromosome region 4cytoplasmic linker 2cytoplasmic linker protein 115cytoplasmic linker protein 2testicular tissue protein Li 40williams- | |
Modification date | 20180529 | 20180519 | |
UniProtAcc | P28482 | Q9UDT6 | |
Ensembl transtripts involved in fusion gene | ENST00000215832, ENST00000398822, ENST00000544786, ENST00000491588, | ENST00000361545, ENST00000223398, ENST00000395060, | |
Fusion gene scores | * DoF score | 18 X 13 X 10=2340 | 4 X 4 X 3=48 |
# samples | 23 | 4 | |
** MAII score | log2(23/2340*10)=-3.34680276352639 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MAPK1 [Title/Abstract] AND CLIP2 [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 | MAPK1 | GO:0006468 | protein phosphorylation | 23184662 |
Hgene | MAPK1 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 16314496 |
Hgene | MAPK1 | GO:0018105 | peptidyl-serine phosphorylation | 15850461 |
Hgene | MAPK1 | GO:0034198 | cellular response to amino acid starvation | 11096076 |
Hgene | MAPK1 | GO:0038127 | ERBB signaling pathway | 15133037 |
Hgene | MAPK1 | GO:0051403 | stress-activated MAPK cascade | 11096076 |
Hgene | MAPK1 | GO:0070371 | ERK1 and ERK2 cascade | 16314496 |
Hgene | MAPK1 | GO:0070849 | response to epidermal growth factor | 18794356 |
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 | DA989331 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
* 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-3CDS | ENST00000215832 | ENST00000361545 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000215832 | ENST00000223398 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000215832 | ENST00000395060 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000398822 | ENST00000361545 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000398822 | ENST00000223398 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000398822 | ENST00000395060 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000544786 | ENST00000361545 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000544786 | ENST00000223398 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000544786 | ENST00000395060 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000491588 | ENST00000361545 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000491588 | ENST00000223398 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
intron-3CDS | ENST00000491588 | ENST00000395060 | MAPK1 | chr22 | 22171458 | + | CLIP2 | chr7 | 73800849 | + |
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FusionProtFeatures for MAPK1_CLIP2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MAPK1 | CLIP2 |
Serine/threonine kinase which acts as an essentialcomponent of the MAP kinase signal transduction pathway.MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an importantrole in the MAPK/ERK cascade. They participate also in a signalingcascade initiated by activated KIT and KITLG/SCF. Depending on thecellular context, the MAPK/ERK cascade mediates diverse biologicalfunctions such as cell growth, adhesion, survival anddifferentiation through the regulation of transcription,translation, cytoskeletal rearrangements. The MAPK/ERK cascadeplays also a role in initiation and regulation of meiosis,mitosis, and postmitotic functions in differentiated cells byphosphorylating a number of transcription factors. About 160substrates have already been discovered for ERKs. Many of thesesubstrates are localized in the nucleus, and seem to participatein the regulation of transcription upon stimulation. However,other substrates are found in the cytosol as well as in othercellular organelles, and those are responsible for processes suchas translation, mitosis and apoptosis. Moreover, the MAPK/ERKcascade is also involved in the regulation of the endosomaldynamics, including lysosome processing and endosome cyclingthrough the perinuclear recycling compartment (PNRC); as well asin the fragmentation of the Golgi apparatus during mitosis. Thesubstrates include transcription factors (such as ATF2, BCL6,ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such asCANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators ofapoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG),regulators of translation (such as EIF4EBP1) and a variety ofother signaling-related molecules (like ARHGEF2, DCC, FRS2 orGRB10). 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 whichenable the propagation the MAPK/ERK signal to additional cytosolicand nuclear targets, thereby extending the specificity of thecascade. Mediates phosphorylation of TPR in respons to EGFstimulation. May play a role in the spindle assembly checkpoint.Phosphorylates PML and promotes its interaction with PIN1, leadingto PML degradation. Phosphorylates CDK2AP2 (By similarity).{ECO:0000250|UniProtKB:P63086, ECO:0000269|PubMed:10617468,ECO:0000269|PubMed:10637505, ECO:0000269|PubMed:11154262,ECO:0000269|PubMed:12110590, ECO:0000269|PubMed:12356731,ECO:0000269|PubMed:12792650, ECO:0000269|PubMed:12794087,ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:15184391,ECO:0000269|PubMed:15241487, ECO:0000269|PubMed:15616583,ECO:0000269|PubMed:15664191, ECO:0000269|PubMed:15788397,ECO:0000269|PubMed:15952796, ECO:0000269|PubMed:16581800,ECO:0000269|PubMed:18794356, ECO:0000269|PubMed:19265199,ECO:0000269|PubMed:19879846, ECO:0000269|PubMed:22033920,ECO:0000269|PubMed:7588608, ECO:0000269|PubMed:8622688,ECO:0000269|PubMed:9480836, ECO:0000269|PubMed:9596579,ECO:0000269|PubMed:9649500, ECO:0000269|PubMed:9687510,ECO:0000303|PubMed:15526160, ECO:0000303|PubMed:16393692,ECO:0000303|PubMed:19565474, ECO:0000303|PubMed:21779493}. Acts as a transcriptional repressor. Binds to a[GC]AAA[GC] consensus sequence. Repress the expression ofinterferon gamma-induced genes. Seems to bind to the promoter ofCCL5, DMP1, IFIH1, IFITM1, IRF7, IRF9, LAMP3, OAS1, OAS2, OAS3 andSTAT1. Transcriptional activity is independent of kinase activity.{ECO:0000269|PubMed:19879846}. | Seems to link microtubules to dendritic lamellar body(DLB), a membranous organelle predominantly present in bulbousdendritic appendages of neurons linked by dendrodendritic gapjunctions. May operate in the control of brain-specific organelletranslocations (By similarity). {ECO:0000250}. |
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 MAPK1_CLIP2 |
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 MAPK1_CLIP2 |
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 MAPK1_CLIP2 |
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 | MAPK1 | P28482 | DB01064 | Isoprenaline | Mitogen-activated protein kinase 1 | small molecule | approved|investigational |
Hgene | MAPK1 | P28482 | DB01169 | Arsenic trioxide | Mitogen-activated protein kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for MAPK1_CLIP2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MAPK1 | C0020429 | Hyperalgesia | 2 | CTD_human |
Hgene | MAPK1 | C0024121 | Lung Neoplasms | 2 | CTD_human |
Hgene | MAPK1 | C0236736 | Cocaine-Related Disorders | 2 | CTD_human |
Hgene | MAPK1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | MAPK1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | MAPK1 | C0007786 | Brain Ischemia | 1 | CTD_human |
Hgene | MAPK1 | C0017639 | Gliosis | 1 | CTD_human |
Hgene | MAPK1 | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
Hgene | MAPK1 | C0020564 | Hypertrophy | 1 | CTD_human |
Hgene | MAPK1 | C0021361 | Female infertility | 1 | CTD_human |
Hgene | MAPK1 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Hgene | MAPK1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | MAPK1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | MAPK1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Hgene | MAPK1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | MAPK1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
Hgene | MAPK1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | MAPK1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
Hgene | MAPK1 | C0040997 | Trigeminal Neuralgia | 1 | CTD_human |
Hgene | MAPK1 | C0155862 | Streptococcal pneumonia | 1 | CTD_human |
Hgene | MAPK1 | C0178417 | Anhedonia | 1 | PSYGENET |
Hgene | MAPK1 | C0243026 | Sepsis | 1 | CTD_human |
Hgene | MAPK1 | C0878544 | Cardiomyopathies | 1 | CTD_human |
Hgene | MAPK1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Hgene | MAPK1 | C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | 1 | CTD_human |
Hgene | MAPK1 | C3495559 | Juvenile arthritis | 1 | CTD_human |