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Fusion gene ID: 19623 |
FusionGeneSummary for LEPREL1_TP63 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LEPREL1_TP63 | Fusion gene ID: 19623 | Hgene | Tgene | Gene symbol | LEPREL1 | TP63 | Gene ID | 55214 | 8626 |
| Gene name | prolyl 3-hydroxylase 2 | tumor protein p63 | |
| Synonyms | LEPREL1|MCVD|MLAT4 | AIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L | |
| Cytomap | 3q28 | 3q28 | |
| Type of gene | protein-coding | protein-coding | |
| Description | prolyl 3-hydroxylase 2leprecan-like 1myxoid liposarcoma-associated protein 4procollagen-proline 3-dioxygenase 2prolyl 3-hydroxylase 3 | tumor protein 63amplified in squamous cell carcinomachronic ulcerative stomatitis proteinkeratinocyte transcription factor KETtransformation-related protein 63tumor protein p53-competing protein | |
| Modification date | 20180523 | 20180521 | |
| UniProtAcc | Q9H3D4 | ||
| Ensembl transtripts involved in fusion gene | ENST00000319332, ENST00000427335, | ENST00000264731, ENST00000382063, ENST00000418709, ENST00000320472, ENST00000392460, ENST00000440651, ENST00000354600, ENST00000437221, ENST00000392463, ENST00000392461, ENST00000456148, ENST00000449992, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 5 X 4=120 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LEPREL1 [Title/Abstract] AND TP63 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 | LEPREL1 | GO:0008285 | negative regulation of cell proliferation | 19436308 |
| Hgene | LEPREL1 | GO:0019511 | peptidyl-proline hydroxylation | 18487197 |
| Hgene | LEPREL1 | GO:0032963 | collagen metabolic process | 18487197 |
| Tgene | TP63 | GO:0045747 | positive regulation of Notch signaling pathway | 11641404 |
| Tgene | TP63 | GO:0045892 | negative regulation of transcription, DNA-templated | 12446784 |
| Tgene | TP63 | GO:0045893 | positive regulation of transcription, DNA-templated | 12446784|16343436 |
| Tgene | TP63 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22521434 |
| Tgene | TP63 | GO:2000271 | positive regulation of fibroblast apoptotic process | 9774969 |
| 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-CS-4942-01A | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| * 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 |
| In-frame | ENST00000319332 | ENST00000264731 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000382063 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000418709 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000320472 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000392460 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000440651 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000354600 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000437221 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000392463 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000392461 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000456148 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| 5CDS-intron | ENST00000319332 | ENST00000449992 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-3CDS | ENST00000427335 | ENST00000264731 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000382063 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000418709 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000320472 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000392460 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000440651 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000354600 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000437221 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000392463 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000392461 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000456148 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
| intron-intron | ENST00000427335 | ENST00000449992 | LEPREL1 | chr3 | 189838041 | - | TP63 | chr3 | 189526061 | + |
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FusionProtFeatures for LEPREL1_TP63 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LEPREL1 | TP63 |