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Fusion gene ID: 2261 |
FusionGeneSummary for APP_EEA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APP_EEA1 | Fusion gene ID: 2261 | Hgene | Tgene | Gene symbol | APP | EEA1 | Gene ID | 351 | 8411 |
| Gene name | amyloid beta precursor protein | early endosome antigen 1 | |
| Synonyms | AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4 | MST105|MSTP105|ZFYVE2 | |
| Cytomap | 21q21.3 | 12q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amyloid-beta A4 proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteincereb | early endosome antigen 1early endosome antigen 1, 162kDearly endosome-associated proteinendosome-associated protein p162zinc finger FYVE domain-containing protein 2 | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | P05067 | Q15075 | |
| Ensembl transtripts involved in fusion gene | ENST00000346798, ENST00000354192, ENST00000348990, ENST00000357903, ENST00000358918, ENST00000359726, ENST00000448388, ENST00000440126, ENST00000439274, ENST00000474136, | ENST00000322349, ENST00000547833, | |
| Fusion gene scores | * DoF score | 15 X 15 X 9=2025 | 22 X 3 X 11=726 |
| # samples | 19 | 20 | |
| ** MAII score | log2(19/2025*10)=-3.4138505843284 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/726*10)=-1.85996954822103 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APP [Title/Abstract] AND EEA1 [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 | APP | GO:0001934 | positive regulation of protein phosphorylation | 11404397 |
| Hgene | APP | GO:0008285 | negative regulation of cell proliferation | 22944668 |
| 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 | LGG | TCGA-HT-7610-01A | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| * 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 | ENST00000346798 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000346798 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000354192 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000354192 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000348990 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000348990 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000357903 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000357903 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000358918 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000358918 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000359726 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| 5CDS-intron | ENST00000359726 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000448388 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000448388 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000440126 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000440126 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000439274 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000439274 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000474136 | ENST00000322349 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
| intron-intron | ENST00000474136 | ENST00000547833 | APP | chr21 | 27252862 | - | EEA1 | chr12 | 93229203 | - |
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FusionProtFeatures for APP_EEA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APP | EEA1 |