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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:HDAC3-S100B (FusionGDB2 ID:HG8841TG6285) |
Fusion Gene Summary for HDAC3-S100B |
Fusion gene summary |
Fusion gene information | Fusion gene name: HDAC3-S100B | Fusion gene ID: hg8841tg6285 | Hgene | Tgene | Gene symbol | HDAC3 | S100B | Gene ID | 8841 | 6285 |
Gene name | histone deacetylase 3 | S100 calcium binding protein B | |
Synonyms | HD3|KDAC3|RPD3|RPD3-2 | NEF|S100|S100-B|S100beta | |
Cytomap | ('HDAC3')('S100B') 5q31.3 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | histone deacetylase 3SMAP45 | protein S100-BS-100 calcium-binding protein, beta chainS-100 protein subunit betaS100 calcium-binding protein, beta (neural) | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | O15379 | . | |
Ensembl transtripts involved in fusion gene | ENST00000305264, ENST00000469207, | ||
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 9 X 7 X 1=63 |
# samples | 4 | 10 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/63*10)=0.666576266274808 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: HDAC3 [Title/Abstract] AND S100B [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | HDAC3(141000772)-S100B(48022311), # 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 | HDAC3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16569215|18417529|18854353 |
Hgene | HDAC3 | GO:0001934 | positive regulation of protein phosphorylation | 25190803 |
Hgene | HDAC3 | GO:0006476 | protein deacetylation | 17172643|21030595 |
Hgene | HDAC3 | GO:0031647 | regulation of protein stability | 25190803 |
Hgene | HDAC3 | GO:0042307 | positive regulation of protein import into nucleus | 25190803 |
Hgene | HDAC3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25190803 |
Hgene | HDAC3 | GO:0071498 | cellular response to fluid shear stress | 25190803 |
Tgene | S100B | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 15033494 |
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 HDAC3-S100B |
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 HDAC3-S100B |
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 HDAC3-S100B |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:141000772/:48022311) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HDAC3 | . |
FUNCTION: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys-27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activity and repressing proximal gene expression. Probably participates in the regulation of transcription through its binding to the zinc-finger transcription factor YY1; increases YY1 repression activity. Required to repress transcription of the POU1F1 transcription factor. Acts as a molecular chaperone for shuttling phosphorylated NR2C1 to PML bodies for sumoylation (PubMed:21444723, PubMed:23911289). Contributes, together with XBP1 isoform 1, to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to endothelial cell (EC) survival under disturbed flow/oxidative stress (PubMed:25190803). Regulates both the transcriptional activation and repression phases of the circadian clock in a deacetylase activity-independent manner (By similarity). During the activation phase, promotes the accumulation of ubiquitinated ARNTL/BMAL1 at the E-boxes and during the repression phase, blocks FBXL3-mediated CRY1/2 ubiquitination and promotes the interaction of CRY1 and ARNTL/BMAL1 (By similarity). The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene ARTNL/BMAL1 and the genes involved in lipid metabolism in the liver (By similarity). Serves as a corepressor of RARA, causing its deacetylation and inhibition of RARE DNA element binding (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). Interacts with SETD5 (By similarity). {ECO:0000250|UniProtKB:O88895, ECO:0000269|PubMed:21444723, ECO:0000269|PubMed:23911289, ECO:0000269|PubMed:25190803, ECO:0000269|PubMed:28167758}. | 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}. |
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 HDAC3-S100B |
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 HDAC3-S100B |
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 HDAC3-S100B |
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 |
Hgene | HDAC3 | O15379 | DB02546 | Vorinostat | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for HDAC3-S100B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HDAC3 | C0036341 | Schizophrenia | 4 | PSYGENET |
Hgene | HDAC3 | C0018799 | Heart Diseases | 1 | CTD_human |
Tgene | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET | |
Tgene | C0011570 | Mental Depression | 5 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 5 | PSYGENET | |
Tgene | C0041696 | Unipolar Depression | 4 | PSYGENET | |
Tgene | C1269683 | Major Depressive Disorder | 4 | PSYGENET | |
Tgene | C0036341 | Schizophrenia | 3 | PSYGENET | |
Tgene | C0005587 | Depression, Bipolar | 2 | CTD_human | |
Tgene | C0024713 | Manic Disorder | 2 | CTD_human | |
Tgene | C0338831 | Manic | 2 | CTD_human | |
Tgene | C0525045 | Mood Disorders | 2 | PSYGENET | |
Tgene | C0006114 | Cerebral Edema | 1 | CTD_human | |
Tgene | C0006118 | Brain Neoplasms | 1 | CTD_human | |
Tgene | C0012734 | Disruptive Behavior Disorder | 1 | CTD_human | |
Tgene | C0013080 | Down Syndrome | 1 | CTD_human | |
Tgene | C0018944 | Hematoma | 1 | CTD_human | |
Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
Tgene | C0029121 | Oppositional Defiant Disorder | 1 | CTD_human | |
Tgene | C0086626 | Minamata Disease | 1 | CTD_human | |
Tgene | C0153633 | Malignant neoplasm of brain | 1 | CTD_human | |
Tgene | C0221480 | Recurrent depression | 1 | PSYGENET | |
Tgene | C0236964 | Attention Deficit and Disruptive Behavior Disorders | 1 | CTD_human | |
Tgene | C0265110 | Cerebral Vasospasm | 1 | CTD_human | |
Tgene | C0274859 | Inorganic Mercury Poisoning | 1 | CTD_human | |
Tgene | C0274860 | Mercury Poisoning, Organic | 1 | CTD_human | |
Tgene | C0432416 | Down Syndrome, Partial Trisomy 21 | 1 | CTD_human | |
Tgene | C0432417 | Trisomy 21, Meiotic Nondisjunction | 1 | CTD_human | |
Tgene | C0472387 | Vasogenic Cerebral Edema | 1 | CTD_human | |
Tgene | C0472388 | Cytotoxic Cerebral Edema | 1 | CTD_human | |
Tgene | C0496899 | Benign neoplasm of brain, unspecified | 1 | CTD_human | |
Tgene | C0546127 | Mercury Poisoning, Nervous System | 1 | CTD_human | |
Tgene | C0750969 | Vasogenic Brain Edema | 1 | CTD_human | |
Tgene | C0750970 | Cytotoxic Brain Edema | 1 | CTD_human | |
Tgene | C0750974 | Brain Tumor, Primary | 1 | CTD_human | |
Tgene | C0750977 | Recurrent Brain Neoplasm | 1 | CTD_human | |
Tgene | C0750979 | Primary malignant neoplasm of brain | 1 | CTD_human | |
Tgene | C0751081 | Trisomy 21, Mitotic Nondisjunction | 1 | CTD_human | |
Tgene | C0751855 | Mercury Encephalopathy | 1 | CTD_human | |
Tgene | C0751856 | Mad Hatter Disease | 1 | CTD_human | |
Tgene | C0751857 | Mercurial Neuroanesthenia | 1 | CTD_human | |
Tgene | C0751858 | Mercury Psychosis | 1 | CTD_human | |
Tgene | C0751895 | Vasospasm, Intracranial | 1 | CTD_human | |
Tgene | C1527311 | Brain Edema | 1 | CTD_human | |
Tgene | C1527390 | Neoplasms, Intracranial | 1 | CTD_human | |
Tgene | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |