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Fusion gene ID: 12351 |
FusionGeneSummary for EYA3_SYTL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EYA3_SYTL1 | Fusion gene ID: 12351 | Hgene | Tgene | Gene symbol | EYA3 | SYTL1 | Gene ID | 2140 | 84958 |
| Gene name | EYA transcriptional coactivator and phosphatase 3 | synaptotagmin like 1 | |
| Synonyms | - | JFC1|SLP1 | |
| Cytomap | 1p35.3 | 1p36.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eyes absent homolog 3eyes absent 3 | synaptotagmin-like protein 1NADPH oxidase-related, C2 domain-containing proteinexophilin-7 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q99504 | Q8IYJ3 | |
| Ensembl transtripts involved in fusion gene | ENST00000373871, ENST00000436342, ENST00000373864, ENST00000540618, ENST00000545175, ENST00000373863, ENST00000471498, | ENST00000318074, ENST00000543823, ENST00000490170, | |
| Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 7 X 7 X 5=245 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/60*10)=0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EYA3 [Title/Abstract] AND SYTL1 [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) |
| 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 | EYA3 | GO:0010212 | response to ionizing radiation | 19234442 |
| Hgene | EYA3 | GO:0016576 | histone dephosphorylation | 19234442|19351884 |
| Tgene | SYTL1 | GO:0006887 | exocytosis | 18266782 |
| 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 | LD | BRCA | TCGA-BH-A0B4-01A | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| * 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 |
| 5CDS-intron | ENST00000373871 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000373871 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-3UTR | ENST00000373871 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5UTR-intron | ENST00000436342 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5UTR-intron | ENST00000436342 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5UTR-3UTR | ENST00000436342 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| intron-intron | ENST00000373864 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| intron-intron | ENST00000373864 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| intron-3UTR | ENST00000373864 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000540618 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000540618 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-3UTR | ENST00000540618 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000545175 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000545175 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-3UTR | ENST00000545175 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000373863 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-intron | ENST00000373863 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5CDS-3UTR | ENST00000373863 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5UTR-intron | ENST00000471498 | ENST00000318074 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5UTR-intron | ENST00000471498 | ENST00000543823 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
| 5UTR-3UTR | ENST00000471498 | ENST00000490170 | EYA3 | chr1 | 28362055 | - | SYTL1 | chr1 | 27675571 | + |
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FusionProtFeatures for EYA3_SYTL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EYA3 | SYTL1 |
| Tyrosine phosphatase that specifically dephosphorylates'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylationof histone H2AX plays a central role in DNA repair and acts as amark that distinguishes between apoptotic and repair responses togenotoxic stress. Promotes efficient DNA repair bydephosphorylating H2AX, promoting the recruitment of DNA repaircomplexes containing MDC1 (PubMed:19234442, PubMed:19351884). Itsfunction as histone phosphatase probably explains its role intranscription regulation during organogenesis. Coactivates SIX1,and seems to coactivate SIX2, SIX4 and SIX5. The repression ofprecursor cell proliferation in myoblasts by SIX1 is switched toactivation through recruitment of EYA3 to the SIX1-DACH1 complexand seems to be dependent on EYA3 phosphatase activity (Bysimilarity). May be involved in development of the eye.{ECO:0000250|UniProtKB:P97480, ECO:0000269|PubMed:19234442,ECO:0000269|PubMed:19351884}. | May play a role in vesicle trafficking (By similarity).Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27Aeffector protein and may play a role in cytotoxic granuleexocytosis in lymphocytes (By similarity). {ECO:0000250,ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:18266782}. |
| 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 EYA3_SYTL1 |
| 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 EYA3_SYTL1 |
| 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 |
| EYA3 | SIX5, H2AFX, SKI, ZDHHC17, TCEAL1, CRK, EWSR1, EYA3, MTMR3, SOAT1, PTRH2, MTMR2, GRPEL1, FHL2, TMEM126A, TSEN34, STIP1, NPPC, TIMM21, CACYBP, NME1, THTPA, TBP, DIS3L, CCDC28A, STX17, SIX2, TRIM25 | SYTL1 | RAB27A, NCF2, NCF1, RAB27B, RAB8A |
| - 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 EYA3_SYTL1 |
| 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 EYA3_SYTL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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