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Fusion gene ID: 42521 |
FusionGeneSummary for ZBTB49_SLC23A2 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ZBTB49 | HSP90AA1, POT1, TRAF2, GOPC, CEP70, ZBTB8A, KAT5, EP300, ZBTB17, HINFP | SLC23A2 | NEDD4, AGPAT2, COA1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ZBTB49_SLC23A2 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SLC23A2 | C0008370 | Cholestasis | 1 | CTD_human |