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Fusion gene ID: 8416 |
FusionGeneSummary for CREB5_APH1A |
Fusion gene summary |
| Fusion gene information | Fusion gene name: CREB5_APH1A | Fusion gene ID: 8416 | Hgene | Tgene | Gene symbol | CREB5 | APH1A | Gene ID | 9586 | 51107 |
| Gene name | cAMP responsive element binding protein 5 | aph-1 homolog A, gamma-secretase subunit | |
| Synonyms | CRE-BPA|CREB-5 | 6530402N02Rik|APH-1|APH-1A|CGI-78 | |
| Cytomap | 7p15.1 | 1q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclic AMP-responsive element-binding protein 5cAMP response element-binding protein CRE-BPa | gamma-secretase subunit APH-1AAPH1A gamma secretase subunitanterior pharynx defective 1 homolog Aaph-1alphapresenilin-stabilization factor | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q02930 | Q96BI3 | |
| Ensembl transtripts involved in fusion gene | ENST00000396299, ENST00000357727, ENST00000396300, ENST00000409603, ENST00000396298, ENST00000482692, | ENST00000369109, ENST00000360244, ENST00000414276, ENST00000461320, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 2 X 2 X 2=8 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/8*10)=1.90689059560852 | |
| Context | PubMed: CREB5 [Title/Abstract] AND APH1A [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 | CREB5 | GO:0045893 | positive regulation of transcription, DNA-templated | 8378084 |
| Tgene | APH1A | GO:0006509 | membrane protein ectodomain proteolysis | 15274632 |
| Tgene | APH1A | GO:0016485 | protein processing | 15274632 |
| Tgene | APH1A | GO:0042982 | amyloid precursor protein metabolic process | 25043039|26280335 |
| Tgene | APH1A | GO:0043085 | positive regulation of catalytic activity | 15274632 |
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 | PCPG | TCGA-QT-A5XO-01A | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| * 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 | ENST00000396299 | ENST00000369109 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396299 | ENST00000360244 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396299 | ENST00000414276 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396299 | ENST00000461320 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000357727 | ENST00000369109 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000357727 | ENST00000360244 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000357727 | ENST00000414276 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000357727 | ENST00000461320 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396300 | ENST00000369109 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396300 | ENST00000360244 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396300 | ENST00000414276 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396300 | ENST00000461320 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000409603 | ENST00000369109 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000409603 | ENST00000360244 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000409603 | ENST00000414276 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000409603 | ENST00000461320 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396298 | ENST00000369109 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396298 | ENST00000360244 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396298 | ENST00000414276 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| 5CDS-intron | ENST00000396298 | ENST00000461320 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| intron-intron | ENST00000482692 | ENST00000369109 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| intron-intron | ENST00000482692 | ENST00000360244 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| intron-intron | ENST00000482692 | ENST00000414276 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
| intron-intron | ENST00000482692 | ENST00000461320 | CREB5 | chr7 | 28763949 | + | APH1A | chr1 | 150241729 | - |
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FusionProtFeatures for CREB5_APH1A |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CREB5 | APH1A |