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Fusion gene ID: 2218 |
FusionGeneSummary for APOE_CLCN3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APOE_CLCN3 | Fusion gene ID: 2218 | Hgene | Tgene | Gene symbol | APOE | CLCN3 | Gene ID | 348 | 1182 |
| Gene name | apolipoprotein E | chloride voltage-gated channel 3 | |
| Synonyms | AD2|APO-E|ApoE4|LDLCQ5|LPG | CLC3|ClC-3 | |
| Cytomap | 19q13.32 | 4q33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | apolipoprotein Eapolipoprotein E3 | H(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P02649 | P51790 | |
| Ensembl transtripts involved in fusion gene | ENST00000252486, | ENST00000513761, ENST00000347613, ENST00000360642, ENST00000504131, ENST00000506924, | |
| Fusion gene scores | * DoF score | 9 X 4 X 4=144 | 36 X 4 X 19=2736 |
| # samples | 10 | 39 | |
| ** MAII score | log2(10/144*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/2736*10)=-2.81052220113629 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APOE [Title/Abstract] AND CLCN3 [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 |
| Hgene | APOE | GO:0001937 | negative regulation of endothelial cell proliferation | 9685360 |
| Hgene | APOE | GO:0006641 | triglyceride metabolic process | 9649566 |
| Hgene | APOE | GO:0006898 | receptor-mediated endocytosis | 1917954 |
| Hgene | APOE | GO:0007186 | G-protein coupled receptor signaling pathway | 16443932 |
| Hgene | APOE | GO:0007263 | nitric oxide mediated signal transduction | 8995232 |
| Hgene | APOE | GO:0008203 | cholesterol metabolic process | 9649566 |
| Hgene | APOE | GO:0010544 | negative regulation of platelet activation | 8995232 |
| Hgene | APOE | GO:0010873 | positive regulation of cholesterol esterification | 15654758 |
| Hgene | APOE | GO:0010875 | positive regulation of cholesterol efflux | 12042316|14754908 |
| Hgene | APOE | GO:0010976 | positive regulation of neuron projection development | 7592957|23845000 |
| Hgene | APOE | GO:0010977 | negative regulation of neuron projection development | 7592957 |
| Hgene | APOE | GO:0015909 | long-chain fatty acid transport | 24345162 |
| Hgene | APOE | GO:0017038 | protein import | 24446231 |
| Hgene | APOE | GO:0019934 | cGMP-mediated signaling | 8995232 |
| Hgene | APOE | GO:0030195 | negative regulation of blood coagulation | 8995232 |
| Hgene | APOE | GO:0030828 | positive regulation of cGMP biosynthetic process | 8995232 |
| Hgene | APOE | GO:0032462 | regulation of protein homooligomerization | 25207746 |
| Hgene | APOE | GO:0032489 | regulation of Cdc42 protein signal transduction | 16443932 |
| Hgene | APOE | GO:0032805 | positive regulation of low-density lipoprotein particle receptor catabolic process | 15950758 |
| Hgene | APOE | GO:0033344 | cholesterol efflux | 11162594|16443932 |
| Hgene | APOE | GO:0033700 | phospholipid efflux | 11162594 |
| Hgene | APOE | GO:0034372 | very-low-density lipoprotein particle remodeling | 15654758 |
| Hgene | APOE | GO:0034380 | high-density lipoprotein particle assembly | 17305370 |
| Hgene | APOE | GO:0034384 | high-density lipoprotein particle clearance | 210175 |
| Hgene | APOE | GO:0034447 | very-low-density lipoprotein particle clearance | 1917954 |
| Hgene | APOE | GO:0042632 | cholesterol homeostasis | 9649566 |
| Hgene | APOE | GO:0042982 | amyloid precursor protein metabolic process | 21593558 |
| Hgene | APOE | GO:0043407 | negative regulation of MAP kinase activity | 9685360 |
| Hgene | APOE | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 9685360 |
| Hgene | APOE | GO:0043691 | reverse cholesterol transport | 8127890 |
| Hgene | APOE | GO:0045541 | negative regulation of cholesterol biosynthetic process | 1917954 |
| Hgene | APOE | GO:0045807 | positive regulation of endocytosis | 7683668|8300609 |
| Hgene | APOE | GO:0046889 | positive regulation of lipid biosynthetic process | 12042316 |
| Hgene | APOE | GO:0051000 | positive regulation of nitric-oxide synthase activity | 8995232 |
| Hgene | APOE | GO:0051044 | positive regulation of membrane protein ectodomain proteolysis | 15950758 |
| Hgene | APOE | GO:0055089 | fatty acid homeostasis | 24345162 |
| Hgene | APOE | GO:0060999 | positive regulation of dendritic spine development | 24328732 |
| Hgene | APOE | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 16805831 |
| Hgene | APOE | GO:0097113 | AMPA glutamate receptor clustering | 24328732 |
| Hgene | APOE | GO:0097114 | NMDA glutamate receptor clustering | 24328732 |
| Hgene | APOE | GO:1900221 | regulation of amyloid-beta clearance | 24446231 |
| Hgene | APOE | GO:1900272 | negative regulation of long-term synaptic potentiation | 16273551 |
| Hgene | APOE | GO:1901215 | negative regulation of neuron death | 24259049 |
| Hgene | APOE | GO:1901628 | positive regulation of postsynaptic membrane organization | 24259049 |
| Hgene | APOE | GO:1901630 | negative regulation of presynaptic membrane organization | 24259049 |
| Hgene | APOE | GO:1902430 | negative regulation of amyloid-beta formation | 24154541 |
| Hgene | APOE | GO:1902952 | positive regulation of dendritic spine maintenance | 24328732 |
| Hgene | APOE | GO:1902995 | positive regulation of phospholipid efflux | 12042316 |
| Hgene | APOE | GO:1903002 | positive regulation of lipid transport across blood brain barrier | 24345162 |
| Hgene | APOE | GO:1905855 | positive regulation of heparan sulfate binding | 7683668 |
| Hgene | APOE | GO:1905860 | positive regulation of heparan sulfate proteoglycan binding | 8300609 |
| Hgene | APOE | GO:1905890 | regulation of cellular response to very-low-density lipoprotein particle stimulus | 7592957 |
| Hgene | APOE | GO:1905906 | regulation of amyloid fibril formation | 25207746 |
| Tgene | CLCN3 | GO:1902476 | chloride transmembrane transport | 11274166 |
| 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 | ACC | TCGA-OR-A5K9-01A | APOE | chr19 | 45412650 | + | CLCN3 | chr4 | 170623929 | + |
| * 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-intron | ENST00000252486 | ENST00000513761 | APOE | chr19 | 45412650 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000252486 | ENST00000347613 | APOE | chr19 | 45412650 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000252486 | ENST00000360642 | APOE | chr19 | 45412650 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000252486 | ENST00000504131 | APOE | chr19 | 45412650 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000252486 | ENST00000506924 | APOE | chr19 | 45412650 | + | CLCN3 | chr4 | 170623929 | + |
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FusionProtFeatures for APOE_CLCN3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APOE | CLCN3 |