| Basic Information ▶ | |
| VISDB ID | TVIS46001252 |
|---|---|
| Fusion Name | BKPyv-GBE1 integration |
| Validated | No |
| Curated Way | Curated |
| Method | Virome capture next-generation sequencing |
| Wet Assay | Yes |
| Sample ID | - |
| Sample Name | Case2_metastatic |
| Sample Type | Tumor |
| Age | - |
| Gender | - |
| Disease Information ▶ | |
| Disease Name | Urothelial Carcinoma |
| Disease Abbreviation | UC |
| Cancer | Yes |
| Literature ▶ | |
| PubMed ID | 32724161 |
| Journal | Oncogene |
| Published Year | 2020 |
| Human Genome ▶ | |
| Human Genome Version Description | GRCh37/hg19 |
| Human Genome RefSeq Accession | GCF_000001405.13 |
| Human Chromosome | chr3 |
| Cytogenetic Band | p12.2 |
| Human Strand | + |
| Human Integration Location Type | intronic |
| Hg19 Start | 81744334 |
| Hg19 End | 81744334 |
| Hg38 Start | 81695183 |
| Hg38 End | 81695183 |
| Junction Sequence | ATTGCTGGTGCTCCTGGGGCTATTGCTGGGTTTGCTGCTTTAATTCAAACTGTTACTGGTATTAGTTCCTTGGCTCAAGTAGGGTATAGGTTTTATTCAGTGGCCGTGAAATTGAGAAGAGGGAGCTTGGCTCACCAATCAACTTCTCGACTAGTGAAGGTTGAGGGGATTAAAATGTAGTGTTTCT |
| Target Gene ▶ | |
| Target Gene | GBE1 |
| Nearby Gene | - |
| Distance | - |
| Virus Information ▶ | |
| Virus Name | BK polyomavirus |
| Virus Subtype Name | - |
| Virus Genome Accession | DQ989813.1 |
| TaxonomyID | 1417981 |
| Virus Abbreviation | BKPyV |
| Virus Genome | BK polyomavirus isolate PittNP1, complete coding regions |
| Virus Genome Length | 4766 bp |
| Virus Breakpoint1 | 539 |
| Virus Breakpoint2 | - |
| Virus Gene Name | DQ989813.1_VP2 |
| Virus Region Type | - |
| Integrated Virus Sequence | - |
| ViMIC ID | - |
| Predicted VIS Effect ▶ | |
| Gene Id | ENSG00000114480.14 |
| Gene Name | GBE1 |
| Region | intron |
| Impact | intronic_insertion |
| Transcript | Transcript 1: ENST00000895875.1, Transcript 2: ENST00000942738.1, Transcript 3: ENST00000942741.1, Transcript 4: ENST00000942739.1, Transcript 5: ENST00000429644.7, Transcript 6: ENST00000895874.1, Transcript 7: ENST00000942740.1, Transcript 8: ENST00000942742.1, Transcript 9: ENST00000489715.1 |
| SpliceAI Score | |
| Delta Scores | Acceptor Gain: 0.000 | Acceptor Loss: 0.000 | Donor Gain: 0.000 | Donor Loss: 0.010 |
| Delta Score Max | 0.010 |
| Delta Position at Max | 1060 |
| Delta Score Flag | LOW |
| Gene | GBE1 |
| AlphaGenome Analysis | |
| Window | chr3:81629647-81760719 |
| RNA-seq Change (±2kb) | Mean: 0.00019351801893208176 | Peak: 0.051025390625 |
| ATAC Change (±2kb) | Mean: -0.0007943999953567982 | Peak: 1.2104511260986328 |
| Interpretation | RNA-seq: no signal in region (REF≈0, ALT≈0) | Splice sites: no signal in region (REF≈0, ALT≈0) | ATAC: minimal change -3.0% |
| Visualization | |
Center for Precision Health
McWilliams School of Biomedical Informatics at UTHealth Houston
7000 Fannin Street, Suite 600, Houston, TX 77030
Email: Zhongming Zhao, Ph.D