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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:ST6GALNAC2-JMJD6 (FusionGDB2 ID:86995) |
Fusion Gene Summary for ST6GALNAC2-JMJD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ST6GALNAC2-JMJD6 | Fusion gene ID: 86995 | Hgene | Tgene | Gene symbol | ST6GALNAC2 | JMJD6 | Gene ID | 10610 | 23210 |
| Gene name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | jumonji domain containing 6, arginine demethylase and lysine hydroxylase | |
| Synonyms | SAITL1|SIAT7|SIAT7B|SIATL1|ST6GalNAII|STHM | PSR|PTDSR|PTDSR1 | |
| Cytomap | 17q25.1 | 17q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferaseSIAT7-BST6 ( | bifunctional arginine demethylase and lysyl-hydroxylase JMJD6arginine demethylase and lysine hydroxylasehistone arginine demethylase JMJD6jmjC domain-containing protein 6jumonji domain containing 6jumonji domain-containing protein 6lysyl-hydroxylase | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q6NYC1 | |
| Ensembl transtripts involved in fusion gene | ENST00000225276, ENST00000586520, | ENST00000585429, ENST00000397625, ENST00000445478, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 7 X 6 X 2=84 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ST6GALNAC2 [Title/Abstract] AND JMJD6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ST6GALNAC2(74574838)-JMJD6(74716580), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | ST6GALNAC2-JMJD6 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ST6GALNAC2-JMJD6 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. ST6GALNAC2-JMJD6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. ST6GALNAC2-JMJD6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 | ST6GALNAC2 | GO:0006486 | protein glycosylation | 29251719 |
| Hgene | ST6GALNAC2 | GO:0006493 | protein O-linked glycosylation | 10742600 |
| Hgene | ST6GALNAC2 | GO:1990743 | protein sialylation | 10742600 |
| Tgene | JMJD6 | GO:0006482 | protein demethylation | 24498420 |
| Tgene | JMJD6 | GO:0018395 | peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine | 19574390|22189873 |
| Tgene | JMJD6 | GO:0035513 | oxidative RNA demethylation | 24360279 |
| Tgene | JMJD6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 24360279 |
| Tgene | JMJD6 | GO:0051260 | protein homooligomerization | 22189873|24360279 |
| Tgene | JMJD6 | GO:0070078 | histone H3-R2 demethylation | 17947579 |
| Tgene | JMJD6 | GO:0070078 | histone H3-R2 demethylation | 22189873 |
| Tgene | JMJD6 | GO:0070079 | histone H4-R3 demethylation | 17947579|24360279|24498420 |
| Tgene | JMJD6 | GO:0070079 | histone H4-R3 demethylation | 22189873 |
| Fusion gene breakpoints across ST6GALNAC2 (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 JMJD6 (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-AN-A0AM-01A | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
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Fusion Gene ORF analysis for ST6GALNAC2-JMJD6 |
| 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-intron | ENST00000225276 | ENST00000585429 | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
| 5UTR-3CDS | ENST00000586520 | ENST00000397625 | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
| 5UTR-3CDS | ENST00000586520 | ENST00000445478 | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
| 5UTR-intron | ENST00000586520 | ENST00000585429 | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
| Frame-shift | ENST00000225276 | ENST00000397625 | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
| Frame-shift | ENST00000225276 | ENST00000445478 | ST6GALNAC2 | chr17 | 74574838 | - | JMJD6 | chr17 | 74716580 | - |
| 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 ST6GALNAC2-JMJD6 |
| 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 ST6GALNAC2-JMJD6 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74574838/:74716580) - 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 |
| . | JMJD6 |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase (PubMed:24498420, PubMed:17947579, PubMed:20684070, PubMed:21060799, PubMed:22189873). Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Regulates RNA splicing by mediating 5-hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65 (PubMed:19574390). Hydroxylates its own N-terminus, which is required for homooligomerization (PubMed:22189873). In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by its ability to bind single strand RNA (PubMed:20679243, PubMed:29176719). Also acts as an arginine demethylase which preferentially demethylates asymmetric dimethylation (PubMed:17947579, PubMed:24498420, PubMed:24360279). Demethylates histone H3 at 'Arg-2' (H3R2me) and histone H4 at 'Arg-3' (H4R3me), including mono-, symmetric di- and asymmetric dimethylated forms, thereby playing a role in histone code (PubMed:17947579, PubMed:24360279). However, histone arginine demethylation may not constitute the primary activity in vivo (PubMed:17947579, PubMed:21060799, PubMed:22189873). In collaboration with BRD4, interacts with the positive transcription elongation factor b (P-TEFb) complex in its active form to regulate polymerase II promoter-proximal pause release for transcriptional activation of a large cohort of genes. On distal enhancers, so called anti-pause enhancers, demethylates both histone H4R3me2 and the methyl cap of 7SKsnRNA leading to the dismissal of the 7SKsnRNA:HEXIM1 inhibitor complex. After removal of repressive marks, the complex BRD4:JMJD6 attract and retain the P-TEFb complex on chromatin, leading to its activation, promoter-proximal polymerase II pause release, and transcriptional activation (PubMed:24360279). Demethylates other arginine methylated-proteins such as ESR1 (PubMed:24498420). Has no histone lysine demethylase activity (PubMed:21060799). Required for differentiation of multiple organs during embryogenesis. Acts as a key regulator of hematopoietic differentiation: required for angiogenic sprouting by regulating the pre-mRNA splicing activity of U2AF2/U2AF65 (By similarity). Seems to be necessary for the regulation of macrophage cytokine responses (PubMed:15622002). {ECO:0000250|UniProtKB:Q9ERI5, ECO:0000269|PubMed:15622002, ECO:0000269|PubMed:17947579, ECO:0000269|PubMed:19574390, ECO:0000269|PubMed:20679243, ECO:0000269|PubMed:20684070, ECO:0000269|PubMed:21060799, ECO:0000269|PubMed:22189873, ECO:0000269|PubMed:24360279, ECO:0000269|PubMed:24498420, ECO:0000269|PubMed:29176719}. |
| 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 ST6GALNAC2-JMJD6 |
| 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 ST6GALNAC2-JMJD6 |
| 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 ST6GALNAC2-JMJD6 |
| 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 ST6GALNAC2-JMJD6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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