| Basic Information ▶ | |
| VISDB ID | TVIS20038919 |
|---|---|
| Fusion Name | HPV-ENSG00000294708 integration |
| Validated | No |
| Curated Way | Curated |
| Method | High-throughput Viral Integration Detection method |
| Wet Assay | Yes |
| Sample ID | - |
| Sample Name | S100 |
| Sample Type | Tumor |
| Age | 57 = 59; >57 = 50 |
| Gender | - |
| Disease Information ▶ | |
| Disease Name | Oropharyngeal squamous cell carcinoma |
| Disease Abbreviation | OPSCC |
| Cancer | Yes |
| Literature ▶ | |
| PubMed ID | 38279874 |
| Journal | Clinical and Translational Medicine |
| Published Year | 2024 |
| Human Genome ▶ | |
| Human Genome Version Description | GRCh37/hg19 |
| Human Genome RefSeq Accession | GCF_000001405.13 |
| Human Chromosome | chr1 |
| Cytogenetic Band | q32.1 |
| Human Strand | + |
| Human Integration Location Type | intronic |
| Hg19 Start | 203741292 |
| Hg19 End | 203741292 |
| Hg38 Start | 203772164 |
| Hg38 End | 203772164 |
| Junction Sequence | ATAGTTCCAGGGTCTCCACAATATACAATTATTGCTGATGCAGGTGACTTTTATTTACATCCTAGTTATTACATGTTACGAAAACGACGTAAACGTTTACCATATTTTTTTTCAGATGTCTCTTTGGCTGCCCAGTAAAGCCCTGTGCCTTTTTTTCCCCTGAATACTGCCCAAAGCATCCCCT |
| Target Gene ▶ | |
| Target Gene | ENSG00000294708, LAX1 |
| Nearby Gene | - |
| Distance | - |
| Virus Information ▶ | |
| Virus Name | Human Papillomavirus |
| Virus Subtype Name | HPV16 |
| Virus Genome Accession | AF534061 |
| TaxonomyID | 10566 |
| Virus Abbreviation | HPV |
| Virus Genome | Human papillomavirus type 16 East Asian type, complete genome |
| Virus Genome Length | 7905 bp |
| Virus Breakpoint1 | 5653 |
| Virus Breakpoint2 | - |
| Virus Gene Name | HpV16gp7_L2;HpV16gp8_L1 |
| Virus Region Type | - |
| Integrated Virus Sequence | - |
| ViMIC ID | - |
| Predicted VIS Effect ▶ | |
| Region | intron |
| Impact | intronic_insertion |
| Transcript | Transcript 1: ENST00000725350.1, Transcript 2: ENST00000367217.6, Transcript 3: ENST00000442561.7, Transcript 4: ENST00000367215.1 |
| Transcript 1 Gene Id | ENSG00000294708.1 |
| Transcript 1 Gene Name | ENSG00000294708 |
| Transcript 2 Gene Id | ENSG00000122188.14 |
| Transcript 2 Gene Name | LAX1 |
| Transcript 3 Gene Id | ENSG00000122188.14 |
| Transcript 3 Gene Name | LAX1 |
| Transcript 4 Gene Id | ENSG00000122188.14 |
| Transcript 4 Gene Name | LAX1 |
| SpliceAI Score | |
| Delta Scores | Acceptor Gain: 0.170 | Acceptor Loss: 0.020 | Donor Gain: 0.080 | Donor Loss: 0.010 |
| Delta Score Max | 0.170 |
| Delta Position at Max | 0 |
| Delta Score Flag | LOW |
| Gene | LAX1 |
| AlphaGenome Analysis | |
| Window | chr1:203706628-203837700 |
| RNA-seq Change (±2kb) | Mean: -0.004797993693500757 | Peak: 4.861328125 |
| ATAC Change (±2kb) | Mean: -0.002354793716222048 | Peak: 10.29150390625 |
| Interpretation | RNA-seq: DECREASED 23.4% (REF=0.02, ALT=0.02) | Splice sites: no signal in region (REF≈0, ALT≈0) | ATAC: minimal change -8.1% |
| 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