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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:MAP3K7-COL12A1 (FusionGDB2 ID:51346) |
Fusion Gene Summary for MAP3K7-COL12A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAP3K7-COL12A1 | Fusion gene ID: 51346 | Hgene | Tgene | Gene symbol | MAP3K7 | COL12A1 | Gene ID | 6885 | 1303 |
| Gene name | mitogen-activated protein kinase kinase kinase 7 | collagen type XII alpha 1 chain | |
| Synonyms | CSCF|FMD2|MEKK7|TAK1|TGF1a | BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 | |
| Cytomap | 6q15 | 6q13-q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitogen-activated protein kinase kinase kinase 7TGF-beta activated kinase 1transforming growth factor-beta-activated kinase 1 | collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O43318 | Q99715 | |
| Ensembl transtripts involved in fusion gene | ENST00000369320, ENST00000369325, ENST00000369327, ENST00000369329, ENST00000369332, ENST00000479630, | ENST00000322507, ENST00000345356, ENST00000483888, ENST00000416123, ENST00000511023, | |
| Fusion gene scores | * DoF score | 9 X 8 X 6=432 | 8 X 11 X 3=264 |
| # samples | 10 | 11 | |
| ** MAII score | log2(10/432*10)=-2.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/264*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAP3K7 [Title/Abstract] AND COL12A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MAP3K7(91246056)-COL12A1(75912543), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | MAP3K7 | GO:0000186 | activation of MAPKK activity | 8663074|9079627 |
| Hgene | MAP3K7 | GO:0000187 | activation of MAPK activity | 9079627 |
| Hgene | MAP3K7 | GO:0007252 | I-kappaB phosphorylation | 11460167 |
| Hgene | MAP3K7 | GO:0007254 | JNK cascade | 9079627 |
| Hgene | MAP3K7 | GO:0043507 | positive regulation of JUN kinase activity | 11460167 |
| Hgene | MAP3K7 | GO:0043966 | histone H3 acetylation | 18838386 |
| Hgene | MAP3K7 | GO:0051403 | stress-activated MAPK cascade | 9079627 |
| Fusion gene breakpoints across MAP3K7 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across COL12A1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LGG | TCGA-DU-6404-02B | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
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Fusion Gene ORF analysis for MAP3K7-COL12A1 |
| 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 |
| 5CDS-5UTR | ENST00000369320 | ENST00000322507 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369320 | ENST00000345356 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369320 | ENST00000483888 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369325 | ENST00000322507 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369325 | ENST00000345356 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369325 | ENST00000483888 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369327 | ENST00000322507 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369327 | ENST00000345356 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369327 | ENST00000483888 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369329 | ENST00000322507 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369329 | ENST00000345356 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369329 | ENST00000483888 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369332 | ENST00000322507 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369332 | ENST00000345356 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-5UTR | ENST00000369332 | ENST00000483888 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369320 | ENST00000416123 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369320 | ENST00000511023 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369325 | ENST00000416123 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369325 | ENST00000511023 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369327 | ENST00000416123 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369327 | ENST00000511023 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369329 | ENST00000416123 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369329 | ENST00000511023 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369332 | ENST00000416123 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5CDS-intron | ENST00000369332 | ENST00000511023 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5UTR-5UTR | ENST00000479630 | ENST00000322507 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5UTR-5UTR | ENST00000479630 | ENST00000345356 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5UTR-5UTR | ENST00000479630 | ENST00000483888 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5UTR-intron | ENST00000479630 | ENST00000416123 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| 5UTR-intron | ENST00000479630 | ENST00000511023 | MAP3K7 | chr6 | 91246056 | - | COL12A1 | chr6 | 75912543 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MAP3K7-COL12A1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MAP3K7-COL12A1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:91246056/:75912543) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAP3K7 | COL12A1 |
| FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs, c-jun N-terminal kinases (JNKs) and I-kappa-B kinase complex (IKK). Both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1), while nuclear factor-kappa B is activated by IKK. MAP3K7 activates also IKBKB and MAPK8/JNK1 in response to TRAF6 signaling and mediates BMP2-induced apoptosis. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B. Promotes TRIM5 capsid-specific restriction activity. Phosphorylates RIPK1 at 'Ser-321' which positively regulates RIPK1 interaction with RIPK3 to promote necroptosis but negatively regulates RIPK1 kinase activity and its interaction with FADD to mediate apoptosis (By similarity). {ECO:0000250|UniProtKB:Q62073, ECO:0000269|PubMed:10094049, ECO:0000269|PubMed:11460167, ECO:0000269|PubMed:12589052, ECO:0000269|PubMed:16845370, ECO:0000269|PubMed:16893890, ECO:0000269|PubMed:21512573, ECO:0000269|PubMed:8663074, ECO:0000269|PubMed:9079627}. | FUNCTION: Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix. {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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Fusion Gene Sequence for MAP3K7-COL12A1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for MAP3K7-COL12A1 |
| 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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Related Drugs for MAP3K7-COL12A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MAP3K7-COL12A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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