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Fusion gene ID: 34101 |
FusionGeneSummary for SLC19A2_F5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC19A2_F5 | Fusion gene ID: 34101 | Hgene | Tgene | Gene symbol | SLC19A2 | F5 | Gene ID | 10560 | 2153 |
| Gene name | solute carrier family 19 member 2 | coagulation factor V | |
| Synonyms | TC1|THMD1|THT1|THTR1|TRMA | FVL|PCCF|RPRGL1|THPH2 | |
| Cytomap | 1q24.2 | 1q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | thiamine transporter 1high affinity thiamine transporterreduced folate carrier protein (RFC) likesolute carrier family 19 (thiamine transporter), member 2thTr-1 | coagulation factor Vactivated protein c cofactorcoagulation factor V (proaccelerin, labile factor)coagulation factor V jinjiang A2 domainfactor V Leiden | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | O60779 | P12259 | |
| Ensembl transtripts involved in fusion gene | ENST00000236137, ENST00000367804, | ENST00000367796, ENST00000367797, ENST00000546081, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 2=32 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/32*10)=-0.0931094043914815 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLC19A2 [Title/Abstract] AND F5 [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 |
| 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 | BRCA | TCGA-AN-A0G0-01A | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
| * 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 | ENST00000236137 | ENST00000367796 | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
| Frame-shift | ENST00000236137 | ENST00000367797 | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
| 5CDS-intron | ENST00000236137 | ENST00000546081 | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
| Frame-shift | ENST00000367804 | ENST00000367796 | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
| Frame-shift | ENST00000367804 | ENST00000367797 | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
| 5CDS-intron | ENST00000367804 | ENST00000546081 | SLC19A2 | chr1 | 169437349 | - | F5 | chr1 | 169497332 | - |
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FusionProtFeatures for SLC19A2_F5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC19A2 | F5 |
| High-affinity transporter for the intake of thiamine.{ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10542220}. | Central regulator of hemostasis. It serves as a criticalcofactor for the prothrombinase activity of factor Xa that resultsin the activation of prothrombin to thrombin. |
| 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 SLC19A2_F5 |
| 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 SLC19A2_F5 |
| 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 |
| SLC19A2 | ELAVL1, CERS2, ATP5F1, CD27, DNASE1L2, PPIE, AGTR1, POMK, DLK1, VIPR2, YIPF3, SLC5A5, SPPL2B, SLC2A12, SLC7A1, FPR2, GPR21, CLEC2D, SLC9A6, LPAR1, GPR114, C3AR1, B4GALT3, ZFYVE27, HTR2C, P2RY1, ATP5B, SLC22A9, C5AR2, GRPR | F5 | F10, CALR, PROS1, F2, F5, POT1, CCDC8, MMRN1, MED4, SRPK2, OLR1, KLRG2, TNFSF8 |
| - 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 SLC19A2_F5 |
| 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 | SLC19A2 | O60779 | DB00152 | Thiamine | Thiamine transporter 1 | small molecule | approved|investigational|nutraceutical|vet_approved |
| Tgene | F5 | P12259 | DB13151 | Anti-inhibitor coagulant complex | Coagulation factor V | biotech | approved|investigational |
| Tgene | F5 | P12259 | DB00055 | Drotrecogin alfa | Coagulation factor V | biotech | approved|investigational|withdrawn |
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RelatedDiseases for SLC19A2_F5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SLC19A2 | C0342287 | Thiamine responsive megaloblastic anemia syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | SLC19A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | F5 | C0042487 | Venous Thrombosis | 5 | CTD_human |
| Tgene | F5 | C1861171 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | 5 | CTD_human;UNIPROT |
| Tgene | F5 | C0015499 | Factor V Deficiency | 3 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | F5 | C0040038 | Thromboembolism | 2 | CTD_human |
| Tgene | F5 | C0040053 | Thrombosis | 2 | CTD_human |
| Tgene | F5 | C1861172 | Venous Thromboembolism | 2 | CTD_human |
| Tgene | F5 | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
| Tgene | F5 | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | F5 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | F5 | C0023890 | Liver Cirrhosis | 1 | CTD_human;HPO |
| Tgene | F5 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | F5 | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
| Tgene | F5 | C0035328 | Retinal Vein Occlusion | 1 | CTD_human |
| Tgene | F5 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| Tgene | F5 | C0338575 | Sagittal Sinus Thrombosis | 1 | CTD_human |
| Tgene | F5 | C1412000 | Mesenteric vascular insufficiency | 1 | CTD_human |
| Tgene | F5 | C2584620 | Thrombophilia, hereditary | 1 | CTD_human |
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