| Basic Information ▶ | |
| VISDB ID | TVIS20022519 |
|---|---|
| Fusion Name | HPV-L1CAM integration |
| Validated | No |
| Curated Way | Curated |
| Method | HPV capture sequencing |
| Wet Assay | Yes |
| Sample ID | G151224R06501.19 |
| Sample Name | New sample |
| Sample Type | Tumor |
| Age | - |
| Gender | - |
| Disease Information ▶ | |
| Disease Name | Cervical cancer |
| Disease Abbreviation | CC |
| Cancer | Yes |
| Literature ▶ | |
| PubMed ID | 35968887 |
| Journal | Clinical and Translational Medicine |
| Published Year | 2022 |
| Human Genome ▶ | |
| Human Genome Version Description | GRCh38/hg38 |
| Human Genome RefSeq Accession | GCF_000001405.40 |
| Human Chromosome | chrX |
| Cytogenetic Band | q28 |
| Human Strand | + |
| Human Integration Location Type | exonic |
| Hg19 Start | - |
| Hg19 End | - |
| Hg38 Start | 153865821 |
| Hg38 End | 153865821 |
| Junction Sequence | cctgggccaggtccaccggccgccacttgaccagcacGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTAAGGTTGTAAGCACGGATGAATATGTTGCACGCACAAACATATATTATCATGCAGGAACATCCAGACTACTTGCAGTTGGACATCCCTATTTTCCTattaaaaaacct |
| Target Gene ▶ | |
| Target Gene | L1CAM |
| Nearby Gene | - |
| Distance | - |
| Virus Information ▶ | |
| Virus Name | Human Papillomavirus |
| Virus Subtype Name | HPV16 |
| Virus Genome Accession | K02718 |
| TaxonomyID | 10566 |
| Virus Abbreviation | HPV |
| Virus Genome | Human papillomavirus type 16 (HPV16), complete genome |
| Virus Genome Length | 7,904 bp |
| Virus Breakpoint1 | 5691 |
| Virus Breakpoint2 | - |
| Virus Gene Name | L1 |
| Virus Region Type | - |
| Integrated Virus Sequence | - |
| ViMIC ID | - |
| Predicted VIS Effect ▶ | |
| Gene Id | ENSG00000198910.15 |
| Gene Name | L1CAM |
| Transcript | Transcript 1: ENST00000891164.1, Transcript 2: ENST00000361981.7, Transcript 3: ENST00000370060.7, Transcript 4: ENST00000912312.1, Transcript 5: ENST00000912311.1, Transcript 6: ENST00000891165.1, Transcript 7: ENST00000370055.5, Transcript 8: ENST00000370058.7, Transcript 9: ENST00000361699.8, Transcript 10: ENST00000491983.1, Transcript 11: ENST00000474853.1 |
| Transcript 1 Region | splice_site |
| Transcript 1 Impact | splice_site_proximal |
| Transcript 2 Region | splice_site |
| Transcript 2 Impact | splice_site_proximal |
| Transcript 3 Region | splice_site |
| Transcript 3 Impact | splice_site_proximal |
| Transcript 4 Region | splice_site |
| Transcript 4 Impact | splice_site_proximal |
| Transcript 5 Region | splice_site |
| Transcript 5 Impact | splice_site_proximal |
| Transcript 6 Region | CDS |
| Transcript 6 Impact | stop_gained |
| Transcript 6 Frameshift | True |
| Transcript 6 Stop Gained | True |
| Transcript 6 Protein Change From Aa0 | 45 |
| Transcript 7 Region | splice_site |
| Transcript 7 Impact | splice_site_proximal |
| Transcript 8 Region | promoter |
| Transcript 8 Impact | promoter_insertion |
| Transcript 9 Region | splice_site |
| Transcript 9 Impact | splice_site_proximal |
| Transcript 10 Region | promoter |
| Transcript 10 Impact | promoter_insertion |
| Transcript 11 Region | exon_non_coding |
| Transcript 11 Impact | noncoding_exon_insertion |
| SpliceAI Score | |
| Delta Scores | Acceptor Gain: 0.990 | Acceptor Loss: 0.990 | Donor Gain: 0.080 | Donor Loss: 0.080 |
| Delta Score Max | 0.990 |
| Delta Position at Max | 0 |
| Delta Score Flag | HIGH_PRECISION |
| Gene | L1CAM |
| Altered Protein (FASTA) | |
| AlphaGenome Analysis | |
| Window | chrX:153800285-153931357 |
| RNA-seq Change (±2kb) | Mean: 0.001221347600221634 | Peak: 12.869140625 |
| ATAC Change (±2kb) | Mean: -0.0008065315196290612 | Peak: 1.35498046875 |
| Interpretation | RNA-seq: minimal change 0.5% | Splice sites: no signal in region (REF≈0, ALT≈0) | ATAC: minimal change -2.8% |
| 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