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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:PVT1-ASAP1 (FusionGDB2 ID:70334) |
Fusion Gene Summary for PVT1-ASAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PVT1-ASAP1 | Fusion gene ID: 70334 | Hgene | Tgene | Gene symbol | PVT1 | ASAP1 | Gene ID | 5820 | 50807 |
| Gene name | Pvt1 oncogene | ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 | |
| Synonyms | LINC00079|MIR1204HG|NCRNA00079|onco-lncRNA-100 | AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P | |
| Cytomap | 8q24.21 | 8q24.21-q24.22 | |
| Type of gene | ncRNA | protein-coding | |
| Description | CXCR4/PVT1 fusionHIST1H2BD/PVT1 fusionMIR1204, MIR1205, MIR1206 and MIR1207 hostOncogene PVT-1 (MYC activator)PVT1/CASC8 fusionPVT1/CCDC26 fusionPVT1/IFRD1 fusionPVT1/IRF2BP2 fusionPVT1/LINC00824 fusionPVT1/MYC fusionPVT1/NFIL3 fusionPVT1/NSMCE | arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosyl | |
| Modification date | 20200322 | 20200327 | |
| UniProtAcc | . | Q9ULH1 | |
| Ensembl transtripts involved in fusion gene | ENST00000408388, | ENST00000357668, ENST00000518721, ENST00000520625, | |
| Fusion gene scores | * DoF score | 75 X 36 X 19=51300 | 13 X 14 X 8=1456 |
| # samples | 109 | 16 | |
| ** MAII score | log2(109/51300*10)=-5.55655878571749 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1456*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PVT1 [Title/Abstract] AND ASAP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PVT1(128903244)-ASAP1(131127981), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 |
| Fusion gene breakpoints across PVT1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across ASAP1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LAML | TCGA-AB-2876_6165JAAXX_1 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131127981 | - |
| ChimerDB4 | LAML | TCGA-AB-2876_6165JAAXX_1 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131124568 | - |
| ChimerDB4 | LAML | TCGA-AB-2876_6165CAAXX_1 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131127981 | - |
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Fusion Gene ORF analysis for PVT1-ASAP1 |
| 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 | ENST00000408388 | ENST00000357668 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131127981 | - |
| intron-3CDS | ENST00000408388 | ENST00000518721 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131127981 | - |
| intron-intron | ENST00000408388 | ENST00000520625 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131127981 | - |
| intron-3CDS | ENST00000408388 | ENST00000357668 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131124568 | - |
| intron-3CDS | ENST00000408388 | ENST00000518721 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131124568 | - |
| intron-intron | ENST00000408388 | ENST00000520625 | PVT1 | chr8 | 128903244 | + | ASAP1 | chr8 | 131124568 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for PVT1-ASAP1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for PVT1-ASAP1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | ASAP1 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis. {ECO:0000250, ECO:0000269|PubMed:20393563}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for PVT1-ASAP1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for PVT1-ASAP1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for PVT1-ASAP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for PVT1-ASAP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PVT1 | C0019829 | Hodgkin Disease | 1 | CTD_human |
| Hgene | PVT1 | C0152266 | Mixed Cellularity Hodgkin Lymphoma | 1 | CTD_human |
| Hgene | PVT1 | C0152267 | Hodgkin lymphoma, lymphocyte depletion | 1 | CTD_human |
| Hgene | PVT1 | C0162538 | Immunoglobulin A deficiency (disorder) | 1 | CTD_human |
| Hgene | PVT1 | C0220597 | Adult Hodgkin Lymphoma | 1 | CTD_human |
| Hgene | PVT1 | C1266194 | Lymphocyte Rich Classical Hodgkin Lymphoma | 1 | CTD_human |
| Hgene | PVT1 | C1334968 | Nodular Lymphocyte Predominant Hodgkin Lymphoma | 1 | CTD_human |
| Tgene | ASAP1 | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human |
| Tgene | ASAP1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | ASAP1 | C0041327 | Tuberculosis, Pulmonary | 1 | CTD_human |
| Tgene | ASAP1 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
| Tgene | ASAP1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | ASAP1 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
| Tgene | ASAP1 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
| Tgene | ASAP1 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
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