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Fusion gene ID: 42521 |
FusionGeneSummary for ZBTB49_SLC23A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZBTB49_SLC23A2 | Fusion gene ID: 42521 | Hgene | Tgene | Gene symbol | ZBTB49 | SLC23A2 | Gene ID | 166793 | 9963 |
| Gene name | zinc finger and BTB domain containing 49 | solute carrier family 23 member 1 | |
| Synonyms | ZNF509 | SLC23A2|SVCT1|YSPL3 | |
| Cytomap | 4p16.3 | 5q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger and BTB domain-containing protein 49zinc finger protein 509 | solute carrier family 23 member 1Na(+)/L-ascorbic acid transporter 1hSVCT1sodium-dependent vitamin C transporter-1solute carrier family 23 (ascorbic acid transporter), member 1solute carrier family 23 (nucleobase transporters), member 1solute carrie | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q6ZSB9 | Q9UGH3 | |
| Ensembl transtripts involved in fusion gene | ENST00000355834, ENST00000538529, ENST00000337872, | ENST00000338244, ENST00000379333, ENST00000424750, ENST00000468355, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 5 X 6 X 2=60 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ZBTB49 [Title/Abstract] AND SLC23A2 [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 | ZBTB49 | GO:0007050 | cell cycle arrest | 25245946 |
| Hgene | ZBTB49 | GO:0008285 | negative regulation of cell proliferation | 25245946 |
| Hgene | ZBTB49 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25245946 |
| Tgene | SLC23A2 | GO:0006814 | sodium ion transport | 18094143 |
| Tgene | SLC23A2 | GO:0009636 | response to toxic substance | 17575980 |
| Tgene | SLC23A2 | GO:0015882 | L-ascorbic acid transmembrane transport | 10631088|11895172|18247577|18417304|19216494 |
| Tgene | SLC23A2 | GO:0070904 | transepithelial L-ascorbic acid transport | 18417304 |
| 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 | SKCM | TCGA-ER-A197-06A | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| * 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 |
| 5UTR-5UTR | ENST00000355834 | ENST00000338244 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000355834 | ENST00000379333 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000355834 | ENST00000424750 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000355834 | ENST00000468355 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000538529 | ENST00000338244 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000538529 | ENST00000379333 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000538529 | ENST00000424750 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000538529 | ENST00000468355 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000337872 | ENST00000338244 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000337872 | ENST00000379333 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000337872 | ENST00000424750 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
| 5UTR-5UTR | ENST00000337872 | ENST00000468355 | ZBTB49 | chr4 | 4292079 | + | SLC23A2 | chr20 | 4951561 | - |
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FusionProtFeatures for ZBTB49_SLC23A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZBTB49 | SLC23A2 |
| Transcription factor. Inhibits cell proliferation byactivating either CDKN1A/p21 transcription or RB1 transcription.{ECO:0000269|PubMed:25245946}. Isoform 1: Binds CDKN1A promoter and activates itstranscription; this activity is further potentiated in thepresence of EP300 (synergistic) and ZBTB17/Miz-1 (additive).{ECO:0000269|PubMed:25245946}. Isoform 3: Activates RB1 transcription most probably byantagonizing ZBTB17 repression of RB1. Does not bind directly RB1promoter. {ECO:0000269|PubMed:25245946}. | Sodium/ascorbate cotransporter. Mediates electrogenicuptake of vitamin C, with a stoichiometry of 2 Na(+) for eachascorbate. |
| 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 ZBTB49_SLC23A2 |
| 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 ZBTB49_SLC23A2 |
| 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 |
| ZBTB49 | HSP90AA1, POT1, TRAF2, GOPC, CEP70, ZBTB8A, KAT5, EP300, ZBTB17, HINFP | SLC23A2 | NEDD4, AGPAT2, COA1 |
| - 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 ZBTB49_SLC23A2 |
| 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 ZBTB49_SLC23A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC23A2 | C0008370 | Cholestasis | 1 | CTD_human |
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