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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:CBX8-ACTL6A (FusionGDB2 ID:13530) |
Fusion Gene Summary for CBX8-ACTL6A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CBX8-ACTL6A | Fusion gene ID: 13530 | Hgene | Tgene | Gene symbol | CBX8 | ACTL6A | Gene ID | 57332 | 86 |
| Gene name | chromobox 8 | actin like 6A | |
| Synonyms | PC3|RC1 | ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K | |
| Cytomap | 17q25.3 | 3q26.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chromobox protein homolog 8Pc class 3 homologchromobox homolog 8 (Pc class homolog, Drosophila)polycomb 3rectachrome 1 | actin-like protein 6A53 kDa BRG1-associated factor ABAF complex 53 kDa subunitBAF53BRG1-associated factor 53AINO80 complex subunit Kactin-related protein 4actin-related protein Baf53aarpNbetahArpN beta | |
| Modification date | 20200313 | 20200315 | |
| UniProtAcc | Q9HC52 | O96019 | |
| Ensembl transtripts involved in fusion gene | ENST00000269385, ENST00000485449, | ENST00000429709, ENST00000450518, ENST00000392662, ENST00000467615, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 7 X 3=147 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CBX8 [Title/Abstract] AND ACTL6A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CBX8(77775200)-ACTL6A(179298682), # 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 |
| Tgene | ACTL6A | GO:0006338 | chromatin remodeling | 11726552 |
| Tgene | ACTL6A | GO:0043967 | histone H4 acetylation | 14966270 |
| Tgene | ACTL6A | GO:0043968 | histone H2A acetylation | 14966270 |
| Fusion gene breakpoints across CBX8 (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 ACTL6A (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 | BRCA | TCGA-AQ-A04H-01B | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
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Fusion Gene ORF analysis for CBX8-ACTL6A |
| 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 | ENST00000269385 | ENST00000429709 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| intron-3CDS | ENST00000269385 | ENST00000450518 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| intron-3CDS | ENST00000269385 | ENST00000392662 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| intron-3UTR | ENST00000269385 | ENST00000467615 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| 5UTR-3CDS | ENST00000485449 | ENST00000429709 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| 5UTR-3CDS | ENST00000485449 | ENST00000450518 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| 5UTR-3CDS | ENST00000485449 | ENST00000392662 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| 5UTR-3UTR | ENST00000485449 | ENST00000467615 | CBX8 | chr17 | 77775200 | - | ACTL6A | chr3 | 179298682 | + |
| 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 CBX8-ACTL6A |
| 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) |
| CBX8 | chr17 | 77775199 | - | ACTL6A | chr3 | 179298681 | + | 0.001109378 | 0.9988907 |
| CBX8 | chr17 | 77775199 | - | ACTL6A | chr3 | 179298681 | + | 0.001109378 | 0.9988907 |
| 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 CBX8-ACTL6A |
| 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 |
| CBX8 | ACTL6A |
| FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. {ECO:0000269|PubMed:21282530}. | FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8, ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:29374058, ECO:0000303|PubMed:15196461, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}. |
| 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 CBX8-ACTL6A |
| 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 CBX8-ACTL6A |
| 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 CBX8-ACTL6A |
| 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 CBX8-ACTL6A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ACTL6A | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND |
| Tgene | ACTL6A | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND |
| Tgene | ACTL6A | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
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