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Fusion gene ID: 20963 |
FusionGeneSummary for MAPK10_COL1A2 |
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Fusion gene information | Fusion gene name: MAPK10_COL1A2 | Fusion gene ID: 20963 | Hgene | Tgene | Gene symbol | MAPK10 | COL1A2 | Gene ID | 5602 | 1278 |
Gene name | mitogen-activated protein kinase 10 | collagen type I alpha 2 chain | |
Synonyms | JNK3|JNK3A|PRKM10|SAPK1b|p493F12|p54bSAPK | EDSARTH2|EDSCV|OI4 | |
Cytomap | 4q21.3 | 7q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | mitogen-activated protein kinase 10JNK3 alpha protein kinaseMAP kinase 10MAP kinase p49 3F12c-Jun N-terminal kinase 3stress activated protein kinase betastress-activated protein kinase 1bstress-activated protein kinase JNK3 | collagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2type I procollagen | |
Modification date | 20180524 | 20180527 | |
UniProtAcc | P53779 | P08123 | |
Ensembl transtripts involved in fusion gene | ENST00000395169, ENST00000359221, ENST00000361569, ENST00000395166, ENST00000449047, ENST00000395161, ENST00000513839, ENST00000395157, ENST00000395160, | ENST00000297268, | |
Fusion gene scores | * DoF score | 8 X 6 X 6=288 | 17 X 22 X 6=2244 |
# samples | 9 | 22 | |
** MAII score | log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2244*10)=-3.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MAPK10 [Title/Abstract] AND COL1A2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | COL1A2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 17217948 |
Tgene | COL1A2 | GO:0007266 | Rho protein signal transduction | 17217948 |
![]() (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 | W60850 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3UTR | ENST00000395169 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000359221 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000361569 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000395166 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000449047 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000395161 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000513839 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000395157 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
intron-3UTR | ENST00000395160 | ENST00000297268 | MAPK10 | chr4 | 87248687 | + | COL1A2 | chr7 | 94060016 | - |
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FusionProtFeatures for MAPK10_COL1A2 |
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Hgene | Tgene |
MAPK10 | COL1A2 |
Serine/threonine-protein kinase involved in variousprocesses such as neuronal proliferation, differentiation,migration and programmed cell death. Extracellular stimuli such asproinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK)signaling pathway. In this cascade, two dual specificity kinasesMAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activateMAPK10/JNK3. In turn, MAPK10/JNK3 phosphorylates a number oftranscription factors, primarily components of AP-1 such as JUNand ATF2 and thus regulates AP-1 transcriptional activity. Playsregulatory roles in the signaling pathways during neuronalapoptosis. Phosphorylates the neuronal microtubule regulatorSTMN2. Acts in the regulation of the amyloid-beta precursorprotein/APP signaling during neuronal differentiation byphosphorylating APP. Participates also in neurite growth in spiralganglion neurons. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimerand plays a role in the photic regulation of the circadian clock(PubMed:22441692). {ECO:0000269|PubMed:11718727,ECO:0000269|PubMed:22441692}. |
![]() * 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 MAPK10_COL1A2 |
![]() (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 MAPK10_COL1A2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAPK10_COL1A2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | COL1A2 | P08123 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-2(I) chain | biotech | approved|investigational |
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RelatedDiseases for MAPK10_COL1A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL1A2 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A2 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 14 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A2 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A2 | C0023931 | Lobstein's Disease | 6 | ORPHANET;UNIPROT |
Tgene | COL1A2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | COL1A2 | C0016059 | Fibrosis | 1 | CTD_human |
Tgene | COL1A2 | C0018824 | Heart valve disease | 1 | CTD_human |
Tgene | COL1A2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | COL1A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | COL1A2 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Tgene | COL1A2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | COL1A2 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
Tgene | COL1A2 | C1857034 | Ehlers-Danlos syndrome, cardiac valvular form | 1 | CTD_human;ORPHANET |