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Fusion gene ID: 41418 |
FusionGeneSummary for VDR_SLC1A5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VDR_SLC1A5 | Fusion gene ID: 41418 | Hgene | Tgene | Gene symbol | VDR | SLC1A5 | Gene ID | 7421 | 6510 |
| Gene name | vitamin D receptor | solute carrier family 1 member 5 | |
| Synonyms | NR1I1|PPP1R163 | AAAT|ASCT2|ATBO|M7V1|M7VS1|R16|RDRC | |
| Cytomap | 12q13.11 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vitamin D3 receptor1,25-dihydroxyvitamin D3 receptornuclear receptor subfamily 1 group I member 1protein phosphatase 1, regulatory subunit 163vitamin D (1,25- dihydroxyvitamin D3) receptorvitamin D nuclear receptor variant 1 | neutral amino acid transporter B(0)ATB(0)RD114 virus receptorRD114/simian type D retrovirus receptorbaboon M7 virus receptorneutral amino acid transporter Bsodium-dependent neutral amino acid transporter type 2solute carrier family 1 (neutral amino | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P11473 | Q15758 | |
| Ensembl transtripts involved in fusion gene | ENST00000395324, ENST00000229022, ENST00000549336, ENST00000550325, ENST00000535672, | ENST00000542575, ENST00000434726, ENST00000594991, ENST00000412532, | |
| Fusion gene scores | * DoF score | 2 X 3 X 1=6 | 4 X 4 X 2=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: VDR [Title/Abstract] AND SLC1A5 [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 | VDR | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17426122 |
| Hgene | VDR | GO:0008285 | negative regulation of cell proliferation | 16549446 |
| Hgene | VDR | GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity | 16549446 |
| Hgene | VDR | GO:0038183 | bile acid signaling pathway | 12016314 |
| Hgene | VDR | GO:0045892 | negative regulation of transcription, DNA-templated | 11891224 |
| Hgene | VDR | GO:0070561 | vitamin D receptor signaling pathway | 16549446 |
| 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 |
| ChiTaRS3.1 | BG272237 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| * 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 |
| intron-3UTR | ENST00000395324 | ENST00000542575 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000395324 | ENST00000434726 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000395324 | ENST00000594991 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000395324 | ENST00000412532 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000229022 | ENST00000542575 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000229022 | ENST00000434726 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000229022 | ENST00000594991 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000229022 | ENST00000412532 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000549336 | ENST00000542575 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000549336 | ENST00000434726 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000549336 | ENST00000594991 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000549336 | ENST00000412532 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000550325 | ENST00000542575 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000550325 | ENST00000434726 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000550325 | ENST00000594991 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000550325 | ENST00000412532 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000535672 | ENST00000542575 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000535672 | ENST00000434726 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000535672 | ENST00000594991 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
| intron-3UTR | ENST00000535672 | ENST00000412532 | VDR | chr12 | 48235575 | + | SLC1A5 | chr19 | 47278590 | + |
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FusionProtFeatures for VDR_SLC1A5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VDR | SLC1A5 |
| Nuclear receptor for calcitriol, the active form ofvitamin D3 which mediates the action of this vitamin on cells.Enters the nucleus upon vitamin D3 binding where it formsheterodimers with the retinoid X receptor/RXR. The VDR-RXRheterodimers bind to specific response elements on DNA andactivate the transcription of vitamin D3-responsive target genes.Recruited to promoters via its interaction with BAZ1B/WSTF whichmediates the interaction with acetylated histones, an essentialstep for VDR-promoter association. Plays a central role in calciumhomeostasis. {ECO:0000269|PubMed:10678179,ECO:0000269|PubMed:15728261, ECO:0000269|PubMed:16252006,ECO:0000269|PubMed:16913708, ECO:0000269|PubMed:28698609}. |
| 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 VDR_SLC1A5 |
| 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 VDR_SLC1A5 |
| 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 |
| - 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 VDR_SLC1A5 |
| 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 |
| Hgene | VDR | P11473 | DB01070 | Dihydrotachysterol | Vitamin D3 receptor | small molecule | approved |
| Hgene | VDR | P11473 | DB02300 | Calcipotriol | Vitamin D3 receptor | small molecule | approved |
| Hgene | VDR | P11473 | DB06410 | Doxercalciferol | Vitamin D3 receptor | small molecule | approved |
| Hgene | VDR | P11473 | DB00910 | Paricalcitol | Vitamin D3 receptor | small molecule | approved|investigational |
| Hgene | VDR | P11473 | DB00136 | Calcitriol | Vitamin D3 receptor | small molecule | approved|nutraceutical |
| Hgene | VDR | P11473 | DB00146 | Calcidiol | Vitamin D3 receptor | small molecule | approved|nutraceutical |
| Hgene | VDR | P11473 | DB00153 | Ergocalciferol | Vitamin D3 receptor | small molecule | approved|nutraceutical |
| Hgene | VDR | P11473 | DB00169 | Cholecalciferol | Vitamin D3 receptor | small molecule | approved|nutraceutical |
| Hgene | VDR | P11473 | DB01436 | Alfacalcidol | Vitamin D3 receptor | small molecule | approved|nutraceutical |
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RelatedDiseases for VDR_SLC1A5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | VDR | C0342646 | Vitamin D-Dependent Rickets, Type 2A | 9 | CTD_human;ORPHANET;UNIPROT |
| Hgene | VDR | C0035579 | Rickets | 3 | CTD_human;HPO |
| Hgene | VDR | C0002170 | Alopecia | 2 | CTD_human;HPO |
| Hgene | VDR | C0023176 | Lead Poisoning | 2 | CTD_human |
| Hgene | VDR | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | VDR | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | VDR | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Hgene | VDR | C0014556 | Epilepsy, Temporal Lobe | 1 | CTD_human |
| Hgene | VDR | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | VDR | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Hgene | VDR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | VDR | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | VDR | C0041948 | Uremia | 1 | CTD_human |
| Hgene | VDR | C0042870 | Vitamin D Deficiency | 1 | CTD_human |
| Hgene | VDR | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| Tgene | SLC1A5 | C0036341 | Schizophrenia | 1 | PSYGENET |
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