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Fusion gene ID: 33416 |
FusionGeneSummary for SETMAR_EYS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SETMAR_EYS | Fusion gene ID: 33416 | Hgene | Tgene | Gene symbol | SETMAR | EYS | Gene ID | 6419 | 346007 |
| Gene name | SET domain and mariner transposase fusion gene | eyes shut homolog (Drosophila) | |
| Synonyms | METNASE|Mar1 | C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1 | |
| Cytomap | 3p26.1 | 6q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase SETMARSET domain and mariner transposase fusion gene-containing proteinSET domain and mariner transposase fusion protein | protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q53H47 | Q5T1H1 | |
| Ensembl transtripts involved in fusion gene | ENST00000358065, ENST00000430981, ENST00000425863, ENST00000462115, | ENST00000503581, ENST00000370621, ENST00000370616, ENST00000393380, ENST00000342421, ENST00000370618, ENST00000486069, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 26 X 15 X 12=4680 |
| # samples | 2 | 27 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(27/4680*10)=-4.11547721741994 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SETMAR [Title/Abstract] AND EYS [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | SETMAR | GO:0000729 | DNA double-strand break processing | 21491884 |
| Hgene | SETMAR | GO:0000737 | DNA catabolic process, endonucleolytic | 20521842|21491884 |
| Hgene | SETMAR | GO:0006303 | double-strand break repair via nonhomologous end joining | 16332963 |
| Hgene | SETMAR | GO:0010452 | histone H3-K36 methylation | 16332963 |
| Hgene | SETMAR | GO:0051568 | histone H3-K4 methylation | 16332963 |
| Hgene | SETMAR | GO:2000373 | positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity | 18790802 |
| Hgene | SETMAR | GO:2001034 | positive regulation of double-strand break repair via nonhomologous end joining | 20620605|21491884 |
| Hgene | SETMAR | GO:2001251 | negative regulation of chromosome organization | 20620605 |
| 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 |
| TCGA | RV | LUSC | TCGA-98-A53I-01A | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| * 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 |
| Frame-shift | ENST00000358065 | ENST00000503581 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000358065 | ENST00000370621 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000358065 | ENST00000370616 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000358065 | ENST00000393380 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000358065 | ENST00000342421 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000358065 | ENST00000370618 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| 5CDS-intron | ENST00000358065 | ENST00000486069 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000430981 | ENST00000503581 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000430981 | ENST00000370621 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000430981 | ENST00000370616 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000430981 | ENST00000393380 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000430981 | ENST00000342421 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000430981 | ENST00000370618 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| 5CDS-intron | ENST00000430981 | ENST00000486069 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000425863 | ENST00000503581 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000425863 | ENST00000370621 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000425863 | ENST00000370616 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000425863 | ENST00000393380 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000425863 | ENST00000342421 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| Frame-shift | ENST00000425863 | ENST00000370618 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| 5CDS-intron | ENST00000425863 | ENST00000486069 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-3CDS | ENST00000462115 | ENST00000503581 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-3CDS | ENST00000462115 | ENST00000370621 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-3CDS | ENST00000462115 | ENST00000370616 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-3CDS | ENST00000462115 | ENST00000393380 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-3CDS | ENST00000462115 | ENST00000342421 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-3CDS | ENST00000462115 | ENST00000370618 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
| intron-intron | ENST00000462115 | ENST00000486069 | SETMAR | chr3 | 4345210 | + | EYS | chr6 | 66115260 | - |
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FusionProtFeatures for SETMAR_EYS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SETMAR | EYS |
| Protein derived from the fusion of a methylase with thetransposase of an Hsmar1 transposon that plays a role in DNAdouble-strand break repair, stalled replication fork restart andDNA integration. DNA-binding protein, it is indirectly recruitedto sites of DNA damage through protein-protein interactions. Hasalso kept a sequence-specific DNA-binding activity recognizing the19-mer core of the 5'-terminal inverted repeats (TIRs) of theHsmar1 element and displays a DNA nicking and end joining activity(PubMed:16332963, PubMed:16672366, PubMed:17877369,PubMed:17403897, PubMed:18263876, PubMed:22231448,PubMed:24573677, PubMed:20521842). In parallel, has a histonemethyltransferase activity and methylates 'Lys-4' and 'Lys-36' ofhistone H3. Specifically mediates dimethylation of H3 'Lys-36' atsites of DNA double-strand break and may recruit proteins requiredfor efficient DSB repair through non-homologous end-joining(PubMed:16332963, PubMed:21187428, PubMed:22231448). Alsoregulates replication fork processing, promoting replication forkrestart and regulating DNA decatenation through stimulation of thetopoisomerase activity of TOP2A (PubMed:18790802,PubMed:20457750). {ECO:0000269|PubMed:16332963,ECO:0000269|PubMed:16672366, ECO:0000269|PubMed:17403897,ECO:0000269|PubMed:17877369, ECO:0000269|PubMed:18790802,ECO:0000269|PubMed:20457750, ECO:0000269|PubMed:20521842,ECO:0000269|PubMed:21187428, ECO:0000269|PubMed:22231448,ECO:0000269|PubMed:24573677, ECO:0000303|PubMed:18263876}. |
| 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 SETMAR_EYS |
| 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 SETMAR_EYS |
| 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 |
| SETMAR | SETMAR, TOP2A, XRCC4, PCNA, RAD9A, PRPF19, H3F3C, CHEK1, CCDC94, IKZF3, LEO1, DOC2A, HSPA8, SETX, PCBP1 | EYS | EGFR |
| - 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 SETMAR_EYS |
| 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 |
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RelatedDiseases for SETMAR_EYS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EYS | C1864446 | Retinitis Pigmentosa 25 | 2 | CTD_human;UNIPROT |
| Tgene | EYS | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;ORPHANET |
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