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Fusion gene ID: 3260 |
FusionGeneSummary for ATP11A_F7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP11A_F7 | Fusion gene ID: 3260 | Hgene | Tgene | Gene symbol | ATP11A | F7 | Gene ID | 23250 | 2155 |
| Gene name | ATPase phospholipid transporting 11A | coagulation factor VII | |
| Synonyms | ATPIH|ATPIS | SPCA | |
| Cytomap | 13q34 | 13q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable phospholipid-transporting ATPase IHATPase, class VI, type 11AP4-ATPase flippase complex alpha subunit ATP11Aphospholipid-translocating ATPasepotential phospholipid-transporting ATPase IH | coagulation factor VIIFVII coagulation proteincoagulation factor VII (serum prothrombin conversion accelerator)eptacog alfaproconvertin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P98196 | P08709 | |
| Ensembl transtripts involved in fusion gene | ENST00000283558, ENST00000375630, ENST00000487903, ENST00000375645, ENST00000419448, | ENST00000541084, ENST00000346342, ENST00000375581, ENST00000473085, | |
| Fusion gene scores | * DoF score | 12 X 9 X 11=1188 | 4 X 3 X 4=48 |
| # samples | 20 | 4 | |
| ** MAII score | log2(20/1188*10)=-2.57046293102604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATP11A [Title/Abstract] AND F7 [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 |
| Tgene | F7 | GO:0002690 | positive regulation of leukocyte chemotaxis | 17991872 |
| Tgene | F7 | GO:0007596 | blood coagulation | 8632006|24998411 |
| Tgene | F7 | GO:0010641 | positive regulation of platelet-derived growth factor receptor signaling pathway | 17991872 |
| Tgene | F7 | GO:0016485 | protein processing | 24998411 |
| Tgene | F7 | GO:0050927 | positive regulation of positive chemotaxis | 17991872 |
| Tgene | F7 | GO:0051897 | positive regulation of protein kinase B signaling | 18612547 |
| 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 | LUSC | TCGA-56-7823-01B | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| * 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 | ENST00000283558 | ENST00000541084 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000283558 | ENST00000346342 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000283558 | ENST00000375581 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| 5CDS-3UTR | ENST00000283558 | ENST00000473085 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000375630 | ENST00000541084 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000375630 | ENST00000346342 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000375630 | ENST00000375581 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| 5CDS-3UTR | ENST00000375630 | ENST00000473085 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000487903 | ENST00000541084 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000487903 | ENST00000346342 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000487903 | ENST00000375581 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| 5CDS-3UTR | ENST00000487903 | ENST00000473085 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000375645 | ENST00000541084 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000375645 | ENST00000346342 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| Frame-shift | ENST00000375645 | ENST00000375581 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| 5CDS-3UTR | ENST00000375645 | ENST00000473085 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| intron-3CDS | ENST00000419448 | ENST00000541084 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| intron-3CDS | ENST00000419448 | ENST00000346342 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| intron-3CDS | ENST00000419448 | ENST00000375581 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
| intron-3UTR | ENST00000419448 | ENST00000473085 | ATP11A | chr13 | 113439571 | + | F7 | chr13 | 113768161 | + |
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FusionProtFeatures for ATP11A_F7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP11A | F7 |
| Catalytic component of a P4-ATPase flippase complexwhich catalyzes the hydrolysis of ATP coupled to the transport ofaminophospholipids from the outer to the inner leaflet of variousmembranes and ensures the maintenance of asymmetric distributionof phospholipids. Phospholipid translocation seems also to beimplicated in vesicle formation and in uptake of lipid signalingmolecules (Probable). May be involved in the uptake offarnesyltransferase inhibitor drugs, such as lonafarnib.{ECO:0000269|PubMed:15860663, ECO:0000305}. | Initiates the extrinsic pathway of blood coagulation.Serine protease that circulates in the blood in a zymogen form.Factor VII is converted to factor VIIa by factor Xa, factor XIIa,factor IXa, or thrombin by minor proteolysis. In the presence oftissue factor and calcium ions, factor VIIa then converts factor Xto factor Xa by limited proteolysis. Factor VIIa will also convertfactor IX to factor IXa in the presence of tissue factor andcalcium. |
| 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 ATP11A_F7 |
| 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 ATP11A_F7 |
| 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 |
| ATP11A | TMEM30A, NPDC1, PICK1, TRIM25 | F7 | F3, F10, USP49, UIMC1, DMWD, ALB, RCHY1, CEP250, CEP76, VCP, FUS, USP7, C1QL1, NMU, CRELD2 |
| - 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 ATP11A_F7 |
| 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 |
| Tgene | F7 | P08709 | DB00036 | Coagulation factor VIIa Recombinant Human | Coagulation factor VII | biotech | approved |
| Tgene | F7 | P08709 | DB00100 | Coagulation Factor IX (Recombinant) | Coagulation factor VII | biotech | approved|investigational |
| Tgene | F7 | P08709 | DB13151 | Anti-inhibitor coagulant complex | Coagulation factor VII | biotech | approved|investigational |
| Tgene | F7 | P08709 | DB00170 | Menadione | Coagulation factor VII | small molecule | approved|nutraceutical |
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RelatedDiseases for ATP11A_F7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATP11A | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Tgene | F7 | C0015503 | Factor VII Deficiency | 16 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | F7 | C0151699 | Intracranial Hemorrhages | 5 | CTD_human;HPO |
| Tgene | F7 | C0019080 | Hemorrhage | 3 | CTD_human |
| Tgene | F7 | C2937358 | Cerebral Hemorrhage | 2 | CTD_human |
| Tgene | F7 | C0012739 | Disseminated Intravascular Coagulation | 1 | CTD_human |
| Tgene | F7 | C0018965 | Hematuria | 1 | CTD_human |
| Tgene | F7 | C0019087 | Hemorrhagic Disorders | 1 | CTD_human |
| Tgene | F7 | C0032787 | Postoperative Complications | 1 | CTD_human |
| Tgene | F7 | C0040038 | Thromboembolism | 1 | CTD_human |
| Tgene | F7 | C0042487 | Venous Thrombosis | 1 | CTD_human |
| Tgene | F7 | C0273058 | Traumatic intracranial hemorrhage | 1 | CTD_human |
| Tgene | F7 | C0749098 | Hematoma, Subdural, Acute | 1 | CTD_human |
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