|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 12403 |
FusionGeneSummary for F5_SCYL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: F5_SCYL3 | Fusion gene ID: 12403 | Hgene | Tgene | Gene symbol | F5 | SCYL3 | Gene ID | 2153 | 57147 |
| Gene name | coagulation factor V | SCY1 like pseudokinase 3 | |
| Synonyms | FVL|PCCF|RPRGL1|THPH2 | PACE-1|PACE1 | |
| Cytomap | 1q24.2 | 1q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coagulation factor Vactivated protein c cofactorcoagulation factor V (proaccelerin, labile factor)coagulation factor V jinjiang A2 domainfactor V Leiden | protein-associating with the carboxyl-terminal domain of ezrinSCY1-like 3SCY1-like protein 3SCY1-like, kinase-like 3ezrin-binding partner PACE-1 (PACE-1)ezrin-binding protein PACE-1 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P12259 | Q8IZE3 | |
| Ensembl transtripts involved in fusion gene | ENST00000367796, ENST00000367797, ENST00000546081, | ENST00000367771, ENST00000367772, ENST00000367770, ENST00000470238, | |
| Fusion gene scores | * DoF score | 1 X 2 X 1=2 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/2*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: F5 [Title/Abstract] AND SCYL3 [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 | RV | LIHC | TCGA-DD-AAE4-01A | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| TCGA | LD | LIHC | TCGA-DD-AAE4-01A | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| * 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 |
| 5CDS-5UTR | ENST00000367796 | ENST00000367771 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000367772 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000367770 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000470238 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000367771 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000367772 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000367770 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000470238 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000367771 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000367772 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000367770 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000470238 | F5 | chr1 | 169505744 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000367771 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000367772 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000367770 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367796 | ENST00000470238 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000367771 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000367772 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000367770 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| 5CDS-5UTR | ENST00000367797 | ENST00000470238 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000367771 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000367772 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000367770 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
| intron-5UTR | ENST00000546081 | ENST00000470238 | F5 | chr1 | 169500024 | - | SCYL3 | chr1 | 169858031 | - |
Top |
FusionProtFeatures for F5_SCYL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| F5 | SCYL3 |
| Central regulator of hemostasis. It serves as a criticalcofactor for the prothrombinase activity of factor Xa that resultsin the activation of prothrombin to thrombin. | May play a role in regulating cell adhesion/migrationcomplexes in migrating cells. {ECO:0000269|PubMed:12651155}. |
| 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 |
Top |
FusionGeneSequence for F5_SCYL3 |
| 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). |
Top |
FusionGenePPI for F5_SCYL3 |
| 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 |
| F5 | F10, CALR, PROS1, F2, F5, POT1, CCDC8, MMRN1, MED4, SRPK2, OLR1, KLRG2, TNFSF8 | SCYL3 | EZR, GABARAPL1, TXN2, LHX8, CEP19, TMEM17, TMEM216, XPO1, TPTE, HDAC11 |
| - 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 |
Top |
RelatedDrugs for F5_SCYL3 |
| 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 | F5 | P12259 | DB13151 | Anti-inhibitor coagulant complex | Coagulation factor V | biotech | approved|investigational |
| Hgene | F5 | P12259 | DB00055 | Drotrecogin alfa | Coagulation factor V | biotech | approved|investigational|withdrawn |
Top |
RelatedDiseases for F5_SCYL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | F5 | C0042487 | Venous Thrombosis | 5 | CTD_human |
| Hgene | F5 | C1861171 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | 5 | CTD_human;UNIPROT |
| Hgene | F5 | C0015499 | Factor V Deficiency | 3 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | F5 | C0040038 | Thromboembolism | 2 | CTD_human |
| Hgene | F5 | C0040053 | Thrombosis | 2 | CTD_human |
| Hgene | F5 | C1861172 | Venous Thromboembolism | 2 | CTD_human |
| Hgene | F5 | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
| Hgene | F5 | C0007786 | Brain Ischemia | 1 | CTD_human |
| Hgene | F5 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | F5 | C0023890 | Liver Cirrhosis | 1 | CTD_human;HPO |
| Hgene | F5 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | F5 | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
| Hgene | F5 | C0035328 | Retinal Vein Occlusion | 1 | CTD_human |
| Hgene | F5 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| Hgene | F5 | C0338575 | Sagittal Sinus Thrombosis | 1 | CTD_human |
| Hgene | F5 | C1412000 | Mesenteric vascular insufficiency | 1 | CTD_human |
| Hgene | F5 | C2584620 | Thrombophilia, hereditary | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|