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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:F5-PTP4A1 (FusionGDB2 ID:HG2153TG7803) |
Fusion Gene Summary for F5-PTP4A1 |
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Fusion gene information | Fusion gene name: F5-PTP4A1 | Fusion gene ID: hg2153tg7803 | Hgene | Tgene | Gene symbol | F5 | PTP4A1 | Gene ID | 2153 | 7803 |
Gene name | coagulation factor V | protein tyrosine phosphatase 4A1 | |
Synonyms | FVL|PCCF|RPRGL1|THPH2 | HH72|PRL-1|PRL1|PTP(CAAX1)|PTPCAAX1 | |
Cytomap | ('F5')('PTP4A1') 1q24.2 | 6q12 | |
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 tyrosine phosphatase type IVA 1PVT1/PTP4A1 fusionphosphatase of regenerating liver 1protein tyrosine phosphatase type IVA protein 1protein tyrosine phosphatase type IVA, member 1protein-tyrosine phosphatase of regenerating liver 1 | |
Modification date | 20200315 | 20200320 | |
UniProtAcc | P12259 | . | |
Ensembl transtripts involved in fusion gene | ENST00000367796, ENST00000367797, ENST00000546081, | ||
Fusion gene scores | * DoF score | 2 X 3 X 2=12 | 15 X 5 X 5=375 |
# samples | 2 | 11 | |
** MAII score | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/375*10)=-1.76938707185858 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: F5 [Title/Abstract] AND PTP4A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | F5(169512840)-PTP4A1(64291324), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for F5-PTP4A1 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for F5-PTP4A1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for F5-PTP4A1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:169512840/:64291324) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
F5 | . |
FUNCTION: Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for F5-PTP4A1 |
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Fusion Gene PPI Analysis for F5-PTP4A1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for F5-PTP4A1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | F5 | P12259 | DB11312 | Protein C | Inactivator | Biotech | Approved |
Hgene | F5 | P12259 | DB11571 | Human thrombin | Activator | Biotech | Approved |
Hgene | F5 | P12259 | DB11572 | Thrombin alfa | Activator | Biotech | Approved |
Hgene | F5 | P12259 | DB13149 | Protein S human | Antagonist | Biotech | Approved |
Hgene | F5 | P12259 | DB05777 | Thrombomodulin Alfa | Biotech | Approved|Investigational | |
Hgene | F5 | P12259 | DB11300 | Thrombin | Activator | Biotech | Approved|Investigational |
Hgene | F5 | P12259 | DB13151 | Anti-inhibitor coagulant complex | Agonist | Biotech | Approved|Investigational |
Hgene | F5 | P12259 | DB00055 | Drotrecogin alfa | Multitarget | Biotech | Approved|Investigational|Withdrawn |
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Related Diseases for F5-PTP4A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | F5 | C1861171 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | 24 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | F5 | C0042487 | Venous Thrombosis | 5 | CTD_human |
Hgene | F5 | C0149871 | Deep Vein Thrombosis | 5 | CTD_human |
Hgene | F5 | C0015499 | Hereditary Factor V Deficiency | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | F5 | C0019154 | Hepatic Vein Thrombosis | 2 | CTD_human;ORPHANET |
Hgene | F5 | C0040038 | Thromboembolism | 2 | CTD_human |
Hgene | F5 | C0040053 | Thrombosis | 2 | CTD_human |
Hgene | F5 | C0087086 | Thrombus | 2 | CTD_human |
Hgene | F5 | C0856761 | Budd-Chiari Syndrome | 2 | CTD_human;ORPHANET |
Hgene | F5 | C1861172 | Venous Thromboembolism | 2 | CTD_human |
Hgene | F5 | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
Hgene | F5 | C0007102 | Malignant tumor of colon | 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 |
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 | C0239946 | Fibrosis, Liver | 1 | CTD_human |
Hgene | F5 | C0267412 | Mesenteric Venous Thrombosis | 1 | CTD_human |
Hgene | F5 | C0338575 | Sagittal Sinus Thrombosis | 1 | CTD_human |
Hgene | F5 | C0751823 | Septic Phlebitis, Sagittal Sinus | 1 | CTD_human |
Hgene | F5 | C0751824 | Sagittal Sinus Thrombophlebitis | 1 | CTD_human |
Hgene | F5 | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human |
Hgene | F5 | C0917798 | Cerebral Ischemia | 1 | CTD_human |
Hgene | F5 | C1412000 | Mesenteric vascular insufficiency | 1 | CTD_human |
Hgene | F5 | C1527411 | Thrombosis of retinal vein | 1 | CTD_human |
Hgene | F5 | C1853831 | Bleeding Disorder, East Texas Type | 1 | ORPHANET |
Hgene | F5 | C2584620 | Thrombophilia, hereditary | 1 | CTD_human |
Hgene | F5 | C2713442 | Polyposis, Adenomatous Intestinal | 1 | CTD_human |
Hgene | F5 | C2713443 | Familial Intestinal Polyposis | 1 | CTD_human |
Hgene | F5 | C3852984 | Acute Mesenteric Arterial Embolus | 1 | CTD_human |
Hgene | F5 | C3852985 | Occlusive Mesenteric Arterial Ischemia | 1 | CTD_human |
Hgene | F5 | C3852986 | Nonocclusive Mesenteric Ischemia | 1 | CTD_human |
Hgene | F5 | C3852987 | Acute Mesenteric Arterial Thrombosis | 1 | CTD_human |
Tgene | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |