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Fusion gene ID: 34161 |
FusionGeneSummary for SLC23A2_PHKB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC23A2_PHKB | Fusion gene ID: 34161 | Hgene | Tgene | Gene symbol | SLC23A2 | PHKB | Gene ID | 9963 | 5257 |
| Gene name | solute carrier family 23 member 1 | phosphorylase kinase regulatory subunit beta | |
| Synonyms | SLC23A2|SVCT1|YSPL3 | - | |
| Cytomap | 5q31.2 | 16q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | phosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, beta | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UGH3 | Q93100 | |
| Ensembl transtripts involved in fusion gene | ENST00000338244, ENST00000379333, ENST00000424750, ENST00000468355, | ENST00000566044, ENST00000455779, ENST00000299167, ENST00000323584, ENST00000567402, | |
| Fusion gene scores | * DoF score | 7 X 7 X 6=294 | 4 X 4 X 4=64 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/294*10)=-1.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLC23A2 [Title/Abstract] AND PHKB [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 | SLC23A2 | GO:0006814 | sodium ion transport | 18094143 |
| Hgene | SLC23A2 | GO:0009636 | response to toxic substance | 17575980 |
| Hgene | SLC23A2 | GO:0015882 | L-ascorbic acid transmembrane transport | 10631088|11895172|18247577|18417304|19216494 |
| Hgene | 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 | RV | LUAD | TCGA-38-4630-01A | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| * 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 | ENST00000338244 | ENST00000566044 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000338244 | ENST00000455779 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000338244 | ENST00000299167 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000338244 | ENST00000323584 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5CDS-intron | ENST00000338244 | ENST00000567402 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000379333 | ENST00000566044 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000379333 | ENST00000455779 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000379333 | ENST00000299167 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| Frame-shift | ENST00000379333 | ENST00000323584 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5CDS-intron | ENST00000379333 | ENST00000567402 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| intron-3CDS | ENST00000424750 | ENST00000566044 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| intron-3CDS | ENST00000424750 | ENST00000455779 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| intron-3CDS | ENST00000424750 | ENST00000299167 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| intron-3CDS | ENST00000424750 | ENST00000323584 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| intron-intron | ENST00000424750 | ENST00000567402 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5UTR-3CDS | ENST00000468355 | ENST00000566044 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5UTR-3CDS | ENST00000468355 | ENST00000455779 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5UTR-3CDS | ENST00000468355 | ENST00000299167 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5UTR-3CDS | ENST00000468355 | ENST00000323584 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
| 5UTR-intron | ENST00000468355 | ENST00000567402 | SLC23A2 | chr20 | 4864288 | - | PHKB | chr16 | 47674946 | + |
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FusionProtFeatures for SLC23A2_PHKB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC23A2 | PHKB |