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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:BCOR-EP300 (FusionGDB2 ID:HG54880TG2033) |
Fusion Gene Summary for BCOR-EP300 |
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Fusion gene information | Fusion gene name: BCOR-EP300 | Fusion gene ID: hg54880tg2033 | Hgene | Tgene | Gene symbol | BCOR | EP300 | Gene ID | 54880 | 2033 |
Gene name | BCL6 corepressor | E1A binding protein p300 | |
Synonyms | ANOP2|MAA2|MCOPS2 | KAT3B|MKHK2|RSTS2|p300 | |
Cytomap | ('BCOR')('EP300') Xp11.4 | 22q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | BCL-6 corepressorBCL-6 coreceptorBCL-6 interacting corepressorBCL6 interacting corepressor | histone acetyltransferase p300E1A-associated protein p300E1A-binding protein, 300kDhistone butyryltransferase p300histone crotonyltransferase p300p300 HATprotein 2-hydroxyisobutyryltransferase p300protein propionyltransferase p300 | |
Modification date | 20200328 | 20200329 | |
UniProtAcc | Q6W2J9 | Q09472 | |
Ensembl transtripts involved in fusion gene | ENST00000342274, ENST00000378444, ENST00000378455, ENST00000378463, ENST00000397354, | ENST00000342274, ENST00000378444, ENST00000378455, ENST00000378463, ENST00000397354, | |
Fusion gene scores | * DoF score | 11 X 15 X 7=1155 | 22 X 26 X 8=4576 |
# samples | 12 | 25 | |
** MAII score | log2(12/1155*10)=-3.2667865406949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(25/4576*10)=-4.1940870521163 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BCOR [Title/Abstract] AND EP300 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BCOR(39931307)-EP300(41575156), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | EP300-BCOR seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EP300-BCOR seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EP300-BCOR seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. EP300-BCOR seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. EP300-BCOR seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. EP300-BCOR seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. EP300-BCOR seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. EP300-BCOR seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. EP300-BCOR seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BCOR | GO:0035518 | histone H2A monoubiquitination | 16943429 |
Hgene | BCOR | GO:0045892 | negative regulation of transcription, DNA-templated | 10898795 |
Tgene | EP300 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10733570 |
Tgene | EP300 | GO:0001666 | response to hypoxia | 9887100|15261140 |
Tgene | EP300 | GO:0006110 | regulation of glycolytic process | 29775581 |
Tgene | EP300 | GO:0006355 | regulation of transcription, DNA-templated | 15261140 |
Tgene | EP300 | GO:0006473 | protein acetylation | 21030595|24939902 |
Tgene | EP300 | GO:0006475 | internal protein amino acid acetylation | 18722353 |
Tgene | EP300 | GO:0010742 | macrophage derived foam cell differentiation | 26504087 |
Tgene | EP300 | GO:0010976 | positive regulation of neuron projection development | 27256286 |
Tgene | EP300 | GO:0016573 | histone acetylation | 25818647|27256286 |
Tgene | EP300 | GO:0018076 | N-terminal peptidyl-lysine acetylation | 12435739 |
Tgene | EP300 | GO:0018393 | internal peptidyl-lysine acetylation | 17403783 |
Tgene | EP300 | GO:0018394 | peptidyl-lysine acetylation | 23811396|23962722 |
Tgene | EP300 | GO:0031333 | negative regulation of protein complex assembly | 23962722 |
Tgene | EP300 | GO:0034644 | cellular response to UV | 24939902 |
Tgene | EP300 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17403783 |
Tgene | EP300 | GO:0043627 | response to estrogen | 11581164 |
Tgene | EP300 | GO:0043923 | positive regulation by host of viral transcription | 16687403 |
Tgene | EP300 | GO:0043969 | histone H2B acetylation | 23415232 |
Tgene | EP300 | GO:0045721 | negative regulation of gluconeogenesis | 30193097 |
Tgene | EP300 | GO:0045815 | positive regulation of gene expression, epigenetic | 25818647 |
Tgene | EP300 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12586840|18722353|23811396 |
Tgene | EP300 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 10518217|25818647 |
Tgene | EP300 | GO:0060765 | regulation of androgen receptor signaling pathway | 18487222 |
Tgene | EP300 | GO:0061921 | peptidyl-lysine propionylation | 17267393 |
Tgene | EP300 | GO:0090043 | regulation of tubulin deacetylation | 18722353 |
Tgene | EP300 | GO:0140066 | peptidyl-lysine crotonylation | 25818647 |
Tgene | EP300 | GO:0140067 | peptidyl-lysine butyrylation | 17267393|29775581 |
Tgene | EP300 | GO:1901224 | positive regulation of NIK/NF-kappaB signaling | 23811396 |
Tgene | EP300 | GO:1905636 | positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 23811396 |
![]() * 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 | LGG | TCGA-DU-6404-01A | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
ChimerDB4 | LGG | TCGA-DU-6404-01A | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
ChimerDB4 | LGG | TCGA-DU-6404-02A | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
ChimerDB4 | LGG | TCGA-DU-6404-02B | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
ChimerDB4 | LGG | TCGA-DU-6404 | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
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Fusion Gene ORF analysis for BCOR-EP300 |
![]() * 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-3UTR | ENST00000342274 | ENST00000263253 | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
intron-3UTR | ENST00000342274 | ENST00000263253 | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
intron-3UTR | ENST00000378444 | ENST00000263253 | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
intron-3UTR | ENST00000378444 | ENST00000263253 | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
intron-3UTR | ENST00000378455 | ENST00000263253 | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
intron-3UTR | ENST00000378455 | ENST00000263253 | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
intron-3UTR | ENST00000378463 | ENST00000263253 | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
intron-3UTR | ENST00000378463 | ENST00000263253 | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
intron-3UTR | ENST00000397354 | ENST00000263253 | BCOR | chrX | 39931308 | - | EP300 | chr22 | 41575157 | + |
intron-3UTR | ENST00000397354 | ENST00000263253 | BCOR | chrX | 39931307 | - | EP300 | chr22 | 41575156 | + |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BCOR-EP300 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BCOR-EP300 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39931307/:41575156) - 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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Hgene | Tgene |
BCOR | EP300 |
FUNCTION: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). {ECO:0000269|PubMed:10898795, ECO:0000269|PubMed:15004558, ECO:0000269|PubMed:18280243, ECO:0000269|PubMed:19578371, ECO:0000269|PubMed:23911289}. | FUNCTION: Functions as histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K27ac) (PubMed:23911289). Also functions as acetyltransferase for non-histone targets, such as ALX1, HDAC1, PRMT1 or SIRT2 (PubMed:12929931, PubMed:16762839, PubMed:18722353). Acetylates 'Lys-131' of ALX1 and acts as its coactivator (PubMed:12929931). Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of p53/TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function (PubMed:18722353). Following DNA damage, forms a stress-responsive p53/TP53 coactivator complex with JMY which mediates p53/TP53 acetylation, thereby increasing p53/TP53-dependent transcription and apoptosis (PubMed:11511361, PubMed:15448695). Promotes chromatin acetylation in heat shock responsive HSP genes during the heat shock response (HSR), thereby stimulating HSR transcription (PubMed:18451878). Acetylates HDAC1 leading to its inactivation and modulation of transcription (PubMed:16762839). Acetylates 'Lys-247' of EGR2 (By similarity). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 (PubMed:12586840). Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity (PubMed:15890677). Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity (PubMed:12402037). Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter (PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity (PubMed:16617102). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D (PubMed:21030595). Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degradation, this mechanism may be involved in CD4/CD8 lineage differentiation (PubMed:20810990). Acetylates GABPB1, impairing GABPB1 heterotetramerization and activity (By similarity). Acetylates PCK1 and promotes PCK1 anaplerotic activity (PubMed:30193097). Acetylates RXRA and RXRG (PubMed:17761950). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA), 2-hydroxyisobutanoyl-CoA (2-hydroxyisobutyryl-CoA), lactoyl-CoA or propanoyl-CoA (propionyl-CoA), and is able to mediate protein crotonylation, butyrylation, 2-hydroxyisobutyrylation, lactylation or propionylation, respectively (PubMed:17267393, PubMed:25818647, PubMed:29775581, PubMed:31645732). Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25818647). Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (2E)-butenoyl-CoA (crotonyl-CoA) concentration is low (PubMed:25818647). Also acts as a histone butyryltransferase; butyrylation marks active promoters (PubMed:17267393). Catalyzes histone lactylation in macrophages by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription (PubMed:31645732). Acts as a protein-lysine 2-hydroxyisobutyryltransferase; regulates glycolysis by mediating 2-hydroxyisobutyrylation of glycolytic enzymes (PubMed:29775581). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000250|UniProtKB:B2RWS6, ECO:0000269|PubMed:10733570, ECO:0000269|PubMed:11430825, ECO:0000269|PubMed:11511361, ECO:0000269|PubMed:11701890, ECO:0000269|PubMed:12402037, ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:15186775, ECO:0000269|PubMed:15448695, ECO:0000269|PubMed:15890677, ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17267393, ECO:0000269|PubMed:17761950, ECO:0000269|PubMed:18451878, ECO:0000269|PubMed:18722353, ECO:0000269|PubMed:18995842, ECO:0000269|PubMed:20810990, ECO:0000269|PubMed:21030595, ECO:0000269|PubMed:23415232, ECO:0000269|PubMed:23911289, ECO:0000269|PubMed:23934153, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:25514493, ECO:0000269|PubMed:25818647, ECO:0000269|PubMed:29775581, ECO:0000269|PubMed:30193097, ECO:0000269|PubMed:31645732, ECO:0000269|PubMed:8945521, ECO:0000305|PubMed:20955178}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. {ECO:0000269|PubMed:10545121, ECO:0000269|PubMed:11080476}. |
![]() * 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 BCOR-EP300 |
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Fusion Gene PPI Analysis for BCOR-EP300 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BCOR-EP300 |
![]() (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 BCOR-EP300 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BCOR | C1846265 | Microphthalmia, syndromic 2 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | BCOR | C0023487 | Acute Promyelocytic Leukemia | 2 | ORPHANET |
Hgene | BCOR | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | BCOR | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Hgene | BCOR | C0027708 | Nephroblastoma | 1 | CTD_human |
Hgene | BCOR | C0029463 | Osteosarcoma | 1 | CTD_human |
Hgene | BCOR | C0206651 | Clear Cell Sarcoma of Soft Tissue | 1 | CTD_human |
Hgene | BCOR | C0206656 | Embryonal Rhabdomyosarcoma | 1 | CTD_human |
Hgene | BCOR | C0334488 | Clear cell sarcoma of kidney | 1 | ORPHANET |
Hgene | BCOR | C0740457 | Malignant neoplasm of kidney | 1 | CTD_human |
Hgene | BCOR | C0796016 | Microphthalmia, syndromic 1 | 1 | CTD_human;ORPHANET |
Hgene | BCOR | C2930471 | Bilateral Wilms Tumor | 1 | CTD_human |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 2 | CTD_human | |
Tgene | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET | |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human | |
Tgene | C0005695 | Bladder Neoplasm | 1 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CGI;CTD_human;UNIPROT | |
Tgene | C0007137 | Squamous cell carcinoma | 1 | CTD_human | |
Tgene | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human | |
Tgene | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human | |
Tgene | C0014170 | Endometrial Neoplasms | 1 | CTD_human | |
Tgene | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human | |
Tgene | C0025202 | melanoma | 1 | CTD_human | |
Tgene | C0028754 | Obesity | 1 | CTD_human | |
Tgene | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human | |
Tgene | C0079772 | T-Cell Lymphoma | 1 | CTD_human | |
Tgene | C0149925 | Small cell carcinoma of lung | 1 | CTD_human | |
Tgene | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0476089 | Endometrial Carcinoma | 1 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 1 | CGI;CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C3150941 | RUBINSTEIN-TAYBI SYNDROME 2 | 1 | GENOMICS_ENGLAND | |
Tgene | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human | |
Tgene | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |