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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:ARSG-MAP2K6 (FusionGDB2 ID:6988) |
Fusion Gene Summary for ARSG-MAP2K6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARSG-MAP2K6 | Fusion gene ID: 6988 | Hgene | Tgene | Gene symbol | ARSG | MAP2K6 | Gene ID | 22901 | 5608 |
| Gene name | arylsulfatase G | mitogen-activated protein kinase kinase 6 | |
| Synonyms | USH4 | MAPKK6|MEK6|MKK6|PRKMK6|SAPKK-3|SAPKK3 | |
| Cytomap | 17q24.2 | 17q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | arylsulfatase GASG | dual specificity mitogen-activated protein kinase kinase 6MAPK/ERK kinase 6MAPKK 6MEK 6SAPK kinase 3protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)stress-activated protein kinase kinase 3 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96EG1 | P52564 | |
| Ensembl transtripts involved in fusion gene | ENST00000448504, ENST00000452479, ENST00000582154, | ENST00000590474, ENST00000589647, | |
| Fusion gene scores | * DoF score | 18 X 13 X 7=1638 | 9 X 9 X 3=243 |
| # samples | 18 | 9 | |
| ** MAII score | log2(18/1638*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/243*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARSG [Title/Abstract] AND MAP2K6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ARSG(66303228)-MAP2K6(67501921), # samples:2 | ||
| 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 | ARSG | GO:0006790 | sulfur compound metabolic process | 18283100 |
| Tgene | MAP2K6 | GO:0000187 | activation of MAPK activity | 8663524|9218798 |
| Fusion gene breakpoints across ARSG (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 MAP2K6 (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 | BRCA | TCGA-E9-A22D-01A | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| ChimerDB4 | BRCA | TCGA-E9-A22D-01A | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
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Fusion Gene ORF analysis for ARSG-MAP2K6 |
| 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 |
| 5UTR-3CDS | ENST00000448504 | ENST00000590474 | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| 5UTR-5UTR | ENST00000448504 | ENST00000589647 | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| intron-3CDS | ENST00000452479 | ENST00000590474 | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| intron-5UTR | ENST00000452479 | ENST00000589647 | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| intron-3CDS | ENST00000582154 | ENST00000590474 | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| intron-5UTR | ENST00000582154 | ENST00000589647 | ARSG | chr17 | 66303228 | + | MAP2K6 | chr17 | 67501921 | + |
| 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 ARSG-MAP2K6 |
| 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 ARSG-MAP2K6 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARSG | MAP2K6 |
| FUNCTION: Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate. {ECO:0000269|PubMed:18283100, ECO:0000269|PubMed:29300381}. | FUNCTION: Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. With MAP3K3/MKK3, catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinases p38 MAPK11, MAPK12, MAPK13 and MAPK14 and plays an important role in the regulation of cellular responses to cytokines and all kinds of stresses. Especially, MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 and MAPK13 induced by environmental stress, whereas MAP2K6/MKK6 is the major MAPK11 activator in response to TNF. MAP2K6/MKK6 also phosphorylates and activates PAK6. The p38 MAP kinase signal transduction pathway leads to direct activation of transcription factors. Nuclear targets of p38 MAP kinase include the transcription factors ATF2 and ELK1. Within the p38 MAPK signal transduction pathway, MAP3K6/MKK6 mediates phosphorylation of STAT4 through MAPK14 activation, and is therefore required for STAT4 activation and STAT4-regulated gene expression in response to IL-12 stimulation. The pathway is also crucial for IL-6-induced SOCS3 expression and down-regulation of IL-6-mediated gene induction; and for IFNG-dependent gene transcription. Has a role in osteoclast differentiation through NF-kappa-B transactivation by TNFSF11, and in endochondral ossification and since SOX9 is another likely downstream target of the p38 MAPK pathway. MAP2K6/MKK6 mediates apoptotic cell death in thymocytes. Acts also as a regulator for melanocytes dendricity, through the modulation of Rho family GTPases. {ECO:0000269|PubMed:10961885, ECO:0000269|PubMed:11727828, ECO:0000269|PubMed:15550393, ECO:0000269|PubMed:20869211, ECO:0000269|PubMed:8622669, ECO:0000269|PubMed:8626699, ECO:0000269|PubMed:8663074, ECO:0000269|PubMed:9218798}. |
| 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 ARSG-MAP2K6 |
| 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 ARSG-MAP2K6 |
| 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 ARSG-MAP2K6 |
| 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 |
| Tgene | MAP2K6 | P52564 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | MAP2K6 | P52564 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | MAP2K6 | P52564 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | MAP2K6 | P52564 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | MAP2K6 | P52564 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for ARSG-MAP2K6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARSG | C4748364 | USHER SYNDROME, TYPE IV | 2 | GENOMICS_ENGLAND;UNIPROT |
| Hgene | ARSG | C0027877 | Neuronal Ceroid-Lipofuscinoses | 1 | GENOMICS_ENGLAND |
| Hgene | ARSG | C1568248 | Usher Syndrome, Type III | 1 | ORPHANET |
| Tgene | MAP2K6 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
| Tgene | MAP2K6 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | MAP2K6 | C0013604 | Edema | 1 | CTD_human |
| Tgene | MAP2K6 | C0020517 | Hypersensitivity | 1 | CTD_human |
| Tgene | MAP2K6 | C0151603 | Anasarca | 1 | CTD_human |
| Tgene | MAP2K6 | C1527304 | Allergic Reaction | 1 | CTD_human |
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