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Fusion gene ID: 16059 |
FusionGeneSummary for HEG1_AKAP8L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HEG1_AKAP8L | Fusion gene ID: 16059 | Hgene | Tgene | Gene symbol | HEG1 | AKAP8L | Gene ID | 57493 | 26993 |
| Gene name | heart development protein with EGF like domains 1 | A-kinase anchoring protein 8 like | |
| Synonyms | HEG|MST112|MSTP112 | HA95|HAP95|NAKAP|NAKAP95 | |
| Cytomap | 3q21.2 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein HEG homolog 1HEG homolog 1heart of glass | A-kinase anchor protein 8-likeA kinase (PRKA) anchor protein 8-likeAKAP8-like proteinhelicase A-binding protein 95 kDahomologous to AKAP95 proteinneighbor of A-kinase anchoring protein 95neighbor of AKAP95testis tissue sperm-binding protein Li 90mP | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9ULI3 | Q9ULX6 | |
| Ensembl transtripts involved in fusion gene | ENST00000311127, ENST00000477536, | ENST00000397410, ENST00000595465, ENST00000595879, | |
| Fusion gene scores | * DoF score | 4 X 5 X 6=120 | 6 X 4 X 7=168 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HEG1 [Title/Abstract] AND AKAP8L [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 | AKAP8L | GO:0006397 | mRNA processing | 17594903 |
| Tgene | AKAP8L | GO:0010793 | regulation of mRNA export from nucleus | 11402034 |
| Tgene | AKAP8L | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11884601 |
| 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 | BF993001 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| * 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-3CDS | ENST00000311127 | ENST00000397410 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-3CDS | ENST00000311127 | ENST00000595465 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-5UTR | ENST00000311127 | ENST00000595879 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-3CDS | ENST00000477536 | ENST00000397410 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-3CDS | ENST00000477536 | ENST00000595465 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
| intron-5UTR | ENST00000477536 | ENST00000595879 | HEG1 | chr3 | 124732626 | + | AKAP8L | chr19 | 15508405 | - |
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FusionProtFeatures for HEG1_AKAP8L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HEG1 | AKAP8L |