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Fusion gene ID: 3498 |
FusionGeneSummary for ATP8A1_LIPC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP8A1_LIPC | Fusion gene ID: 3498 | Hgene | Tgene | Gene symbol | ATP8A1 | LIPC | Gene ID | 10396 | 3990 |
| Gene name | ATPase phospholipid transporting 8A1 | lipase C, hepatic type | |
| Synonyms | ATPASEII|ATPIA|ATPP2 | HDLCQ12|HL|HTGL|LIPH | |
| Cytomap | 4p13 | 15q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phospholipid-transporting ATPase IAATPase IIATPase class I type 8A member 1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1P4-ATPase flippase complex alpha subunit ATP8A1aminophospholipid translocasechromaffin granule ATPase | hepatic triacylglycerol lipaseTriacylglycerol lipasehepatic lipaselipase member Clipase, hepatic | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9Y2Q0 | P11150 | |
| Ensembl transtripts involved in fusion gene | ENST00000381668, ENST00000264449, ENST00000510289, | ENST00000356113, ENST00000414170, ENST00000299022, ENST00000433326, | |
| Fusion gene scores | * DoF score | 7 X 7 X 5=245 | 4 X 4 X 3=48 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/245*10)=-1.8073549220576 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: ATP8A1 [Title/Abstract] AND LIPC [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 | LIPC | GO:0006633 | fatty acid biosynthetic process | 182536 |
| Tgene | LIPC | GO:0019433 | triglyceride catabolic process | 182536|2839510|8640403 |
| Tgene | LIPC | GO:0034372 | very-low-density lipoprotein particle remodeling | 8640403 |
| 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 | T89564 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| * 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-intron | ENST00000381668 | ENST00000356113 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000381668 | ENST00000414170 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000381668 | ENST00000299022 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000381668 | ENST00000433326 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000264449 | ENST00000356113 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000264449 | ENST00000414170 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000264449 | ENST00000299022 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000264449 | ENST00000433326 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000510289 | ENST00000356113 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000510289 | ENST00000414170 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000510289 | ENST00000299022 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
| intron-intron | ENST00000510289 | ENST00000433326 | ATP8A1 | chr4 | 42437489 | - | LIPC | chr15 | 58856857 | + |
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FusionProtFeatures for ATP8A1_LIPC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP8A1 | LIPC |
| 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. In vitro, its ATPase activity is selectively andstereospecifically stimulated by phosphatidylserine (PS). Theflippase complex ATP8A1:TMEM30A seems to play a role in regulationof cell migration probably involving flippase-mediatedtranslocation of phosphatidylethanolamine (PE) at the plasmamembrane. Acts as aminophospholipid translocase at the plasmamembrane in neuronal cells. | Hepatic lipase has the capacity to catalyze hydrolysisof phospholipids, mono-, di-, and triglycerides, and acyl-CoAthioesters. It is an important enzyme in HDL metabolism. Hepaticlipase binds heparin. |
| 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 ATP8A1_LIPC |
| 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 ATP8A1_LIPC |
| 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 ATP8A1_LIPC |
| 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 |
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RelatedDiseases for ATP8A1_LIPC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LIPC | C0023772 | Lipid Metabolism, Inborn Errors | 3 | CTD_human |
| Tgene | LIPC | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
| Tgene | LIPC | C3151466 | HEPATIC LIPASE DEFICIENCY (disorder) | 2 | ORPHANET;UNIPROT |
| Tgene | LIPC | C0020445 | Hypercholesterolemia, Familial | 1 | CTD_human |
| Tgene | LIPC | C0020452 | Hyperemia | 1 | CTD_human |
| Tgene | LIPC | C0020473 | Hyperlipidemia | 1 | CTD_human |
| Tgene | LIPC | C0020476 | Hyperlipoproteinemias | 1 | CTD_human |
| Tgene | LIPC | C0021655 | Insulin Resistance | 1 | CTD_human |
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