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Fusion gene ID: 7207 |
FusionGeneSummary for CHSY3_RBM22 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHSY3_RBM22 | Fusion gene ID: 7207 | Hgene | Tgene | Gene symbol | CHSY3 | RBM22 | Gene ID | 337876 | 55696 |
| Gene name | chondroitin sulfate synthase 3 | RNA binding motif protein 22 | |
| Synonyms | CHSY2|CSS3 | Cwc2|ZC3H16|fSAP47 | |
| Cytomap | 5q23.3 | 5q33.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chondroitin sulfate synthase 3N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3N-acetylgalactosaminyltransferase 3carbohydrate synthase 2chSy-2chondroitin glucuronyltransferase 3chondroitin synthase-2glucuronosyl-N-acetylgalactos | pre-mRNA-splicing factor RBM22functional spliceosome-associated protein 47zinc finger CCCH domain-containing protein 16 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q70JA7 | Q9NW64 | |
| Ensembl transtripts involved in fusion gene | ENST00000305031, ENST00000507545, | ENST00000540000, ENST00000199814, ENST00000447771, | |
| Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CHSY3 [Title/Abstract] AND RBM22 [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 |
| Tgene | RBM22 | GO:0000060 | protein import into nucleus, translocation | 17045351 |
| Tgene | RBM22 | GO:0033120 | positive regulation of RNA splicing | 22246180 |
| Tgene | RBM22 | GO:0035690 | cellular response to drug | 21122810 |
| Tgene | RBM22 | GO:0042307 | positive regulation of protein import into nucleus | 21122810 |
| Tgene | RBM22 | GO:0045292 | mRNA cis splicing, via spliceosome | 22246180 |
| Tgene | RBM22 | GO:0046827 | positive regulation of protein export from nucleus | 21122810 |
| 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 | SARC | TCGA-KD-A5QS-01A | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
| * 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 | ENST00000305031 | ENST00000540000 | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
| 5CDS-intron | ENST00000305031 | ENST00000199814 | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
| 5CDS-intron | ENST00000305031 | ENST00000447771 | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
| 3UTR-intron | ENST00000507545 | ENST00000540000 | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
| 3UTR-intron | ENST00000507545 | ENST00000199814 | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
| 3UTR-intron | ENST00000507545 | ENST00000447771 | CHSY3 | chr5 | 129244053 | + | RBM22 | chr5 | 150078193 | - |
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FusionProtFeatures for CHSY3_RBM22 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHSY3 | RBM22 |
| Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronicacid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc)from UDP-GalNAc to the non-reducing end of the elongatingchondroitin polymer. Specific activity is much reduced compared toCHSY1. {ECO:0000269|PubMed:12907687}. | Involved in the first step of pre-mRNA splicing. Bindsdirectly to the internal stem-loop (ISL) domain of the U6 snRNAand to the pre-mRNA intron near the 5' splice site during theactivation and catalytic phases of the spliceosome cycle. Involvedin both translocations of the nuclear SLU7 to the cytoplasm andthe cytosolic calcium-binding protein PDCD6 to the nucleus uponcellular stress responses. {ECO:0000269|PubMed:17045351,ECO:0000269|PubMed:21122810, ECO:0000269|PubMed:22246180}. |
| 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 CHSY3_RBM22 |
| 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 CHSY3_RBM22 |
| 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 |
| CHSY3 | PLAUR, SIAE, ISLR, FOXN3, CHSY1, SCGB2A2, LRFN4, GOLPH3, GDPD5, ADAM21, RMND1, CCPG1, P3H4, MGAT4C, STK17B | RBM22 | RNU6-1, RNU6-6P, RNU6-50P, CUL3, PRNP, BARD1, EIF4A3, MAGOH, AQR, HNRNPUL1, RBM4, RBFOX2, HDAC11, CEP55, SUZ12, TSSC4, USB1, RALYL, PPIE, LUC7L2, SNIP1, ZNF444, C9orf41, MAGEA1, G3BP1, KIFAP3, FOXJ2, ZNF131, C11orf57, PRPF19, SNRPE, SYF2, ELAVL2, SNRPF, PNN, KIAA1143, ZNF264, CD44, SNRPG |
| - 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 CHSY3_RBM22 |
| 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 CHSY3_RBM22 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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