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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:CAMSAP3-PML (FusionGDB2 ID:HG57662TG5371) |
Fusion Gene Summary for CAMSAP3-PML |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CAMSAP3-PML | Fusion gene ID: hg57662tg5371 | Hgene | Tgene | Gene symbol | CAMSAP3 | PML | Gene ID | 57662 | 5371 |
| Gene name | calmodulin regulated spectrin associated protein family member 3 | promyelocytic leukemia | |
| Synonyms | KIAA1543|NEZHA|PPP1R80 | MYL|PP8675|RNF71|TRIM19 | |
| Cytomap | ('CAMSAP3')('PML') 19p13.2 | 15q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calmodulin-regulated spectrin-associated protein 3protein phosphatase 1, regulatory subunit 80 | protein PMLPML/RARA fusionRING finger protein 71probable transcription factor PMLpromyelocytic leukemia proteinpromyelocytic leukemia, inducer oftripartite motif protein TRIM19tripartite motif-containing protein 19 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | P29590 | |
| Ensembl transtripts involved in fusion gene | ENST00000160298, ENST00000446248, | ||
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 9 X 24 X 6=1296 |
| # samples | 2 | 28 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(28/1296*10)=-2.21056698593966 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CAMSAP3 [Title/Abstract] AND PML [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CAMSAP3(7681311)-PML(74327589), # samples:1 | ||
| 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 |
| Hgene | CAMSAP3 | GO:0000226 | microtubule cytoskeleton organization | 24486153|27693509 |
| Hgene | CAMSAP3 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| Hgene | CAMSAP3 | GO:0030334 | regulation of cell migration | 27693509 |
| Hgene | CAMSAP3 | GO:0030951 | establishment or maintenance of microtubule cytoskeleton polarity | 26715742|27802168 |
| Hgene | CAMSAP3 | GO:0031113 | regulation of microtubule polymerization | 24486153 |
| Hgene | CAMSAP3 | GO:0045198 | establishment of epithelial cell apical/basal polarity | 26715742|27802168 |
| Hgene | CAMSAP3 | GO:0051893 | regulation of focal adhesion assembly | 27693509 |
| Hgene | CAMSAP3 | GO:1903358 | regulation of Golgi organization | 28089391 |
| Tgene | PML | GO:0001666 | response to hypoxia | 16915281 |
| Tgene | PML | GO:0030308 | negative regulation of cell growth | 9448006 |
| Tgene | PML | GO:0034097 | response to cytokine | 9412458 |
| Tgene | PML | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 22406621 |
| Tgene | PML | GO:0045087 | innate immune response | 18248090 |
| Tgene | PML | GO:0045892 | negative regulation of transcription, DNA-templated | 9448006 |
| Tgene | PML | GO:0051457 | maintenance of protein location in nucleus | 17332504 |
| Tgene | PML | GO:0065003 | protein-containing complex assembly | 12915590 |
| Tgene | PML | GO:0090398 | cellular senescence | 22002537|22117195|23431171 |
| Tgene | PML | GO:1902187 | negative regulation of viral release from host cell | 18248090 |
| Fusion gene information * 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 |
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Fusion Gene ORF analysis for CAMSAP3-PML |
| 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 |
| 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 CAMSAP3-PML |
| 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) |
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Fusion Protein Features for CAMSAP3-PML |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7681311/:74327589) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | PML |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation). Isoform PML-4 also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localization and circadian function. Isoform PML-6 inhibits specifically the activity of the tetrameric form of PKM. The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5) in concert with SATB1 are involved in local chromatin-loop remodeling and gene expression regulation at the MHC-I locus. Isoform PML-2 is required for efficient IFN-gamma induced MHC II gene transcription via regulation of CIITA. Cytoplasmic PML is involved in the regulation of the TGF-beta signaling pathway. PML also regulates transcription activity of ELF4 and can act as an important mediator for TNF-alpha- and IFN-alpha-mediated inhibition of endothelial cell network formation and migration.; FUNCTION: Exhibits antiviral activity against both DNA and RNA viruses. The antiviral activity can involve one or several isoform(s) and can be enhanced by the permanent PML-NB-associated protein DAXX or by the recruitment of p53/TP53 within these structures. Isoform PML-4 restricts varicella zoster virus (VZV) via sequestration of virion capsids in PML-NBs thereby preventing their nuclear egress and inhibiting formation of infectious virus particles. The sumoylated isoform PML-4 restricts rabies virus by inhibiting viral mRNA and protein synthesis. The cytoplasmic isoform PML-14 can restrict herpes simplex virus-1 (HHV-1) replication by sequestering the viral E3 ubiquitin-protein ligase ICP0 in the cytoplasm. Isoform PML-6 shows restriction activity towards human cytomegalovirus (HHV-5) and influenza A virus strains PR8(H1N1) and ST364(H3N2). Sumoylated isoform PML-4 and isoform PML-12 show antiviral activity against encephalomyocarditis virus (EMCV) by promoting nuclear sequestration of viral polymerase (P3D-POL) within PML NBs. Isoform PML-3 exhibits antiviral activity against poliovirus by inducing apoptosis in infected cells through the recruitment and the activation of p53/TP53 in the PML-NBs. Isoform PML-3 represses human foamy virus (HFV) transcription by complexing the HFV transactivator, bel1/tas, preventing its binding to viral DNA. PML may positively regulate infectious hepatitis C viral (HCV) production and isoform PML-2 may enhance adenovirus transcription. Functions as an E3 SUMO-protein ligase that sumoylates (HHV-5) immediate early protein IE1, thereby participating in the antiviral response (PubMed:20972456, PubMed:28250117). Isoforms PML-3 and PML-6 display the highest levels of sumoylation activity (PubMed:20972456, PubMed:28250117). {ECO:0000269|PubMed:20972456, ECO:0000269|PubMed:28250117}. |
| 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 CAMSAP3-PML |
| 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 CAMSAP3-PML |
| 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 CAMSAP3-PML |
| 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 |
| Tgene | PML | P29590 | DB01169 | Arsenic trioxide | Small molecule | Approved|Investigational | |
| Tgene | PML | P29590 | DB01169 | Arsenic trioxide | Small molecule | Approved|Investigational | |
| Tgene | PML | P29590 | DB01169 | Arsenic trioxide | Small molecule | Approved|Investigational | |
| Tgene | PML | P29590 | DB01169 | Arsenic trioxide | Small molecule | Approved|Investigational | |
| Tgene | PML | P29590 | DB01169 | Arsenic trioxide | Small molecule | Approved|Investigational |
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Related Diseases for CAMSAP3-PML |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C0023487 | Acute Promyelocytic Leukemia | 21 | CTD_human;ORPHANET | |
| Tgene | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human | |
| Tgene | C0017636 | Glioblastoma | 1 | CTD_human | |
| Tgene | C0019207 | Hepatoma, Morris | 1 | CTD_human | |
| Tgene | C0019208 | Hepatoma, Novikoff | 1 | CTD_human | |
| Tgene | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human | |
| Tgene | C0027627 | Neoplasm Metastasis | 1 | CTD_human | |
| Tgene | C0029401 | Osteitis Deformans | 1 | CTD_human | |
| Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
| Tgene | C0036341 | Schizophrenia | 1 | CTD_human | |
| Tgene | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human | |
| Tgene | C0085183 | Neoplasms, Second Primary | 1 | CTD_human | |
| Tgene | C0086404 | Experimental Hepatoma | 1 | CTD_human | |
| Tgene | C0086696 | Neoplasms, Therapy-Associated | 1 | CTD_human | |
| Tgene | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human | |
| Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
| Tgene | C0877578 | Treatment related secondary malignancy | 1 | CTD_human | |
| Tgene | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human | |
| Tgene | C1621958 | Glioblastoma Multiforme | 1 | CTD_human | |
| Tgene | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human | |
| Tgene | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human |
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