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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:ACTR3B-EPCAM (FusionGDB2 ID:HG57180TG4072) |
Fusion Gene Summary for ACTR3B-EPCAM |
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Fusion gene information | Fusion gene name: ACTR3B-EPCAM | Fusion gene ID: hg57180tg4072 | Hgene | Tgene | Gene symbol | ACTR3B | EPCAM | Gene ID | 57180 | 4072 |
Gene name | actin related protein 3B | epithelial cell adhesion molecule | |
Synonyms | ARP11|ARP3BETA | DIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACSTD1|TROP1 | |
Cytomap | ('ACTR3B')('EPCAM') 7q36.1-q36.2 | 2p21 | |
Type of gene | protein-coding | protein-coding | |
Description | actin-related protein 3BARP3 actin related protein 3 homolog BARP3-betaactin-like protein 3Bactin-related protein 3-betaactin-related protein ARP4actin-related protein Arp11 | epithelial cell adhesion moleculeadenocarcinoma-associated antigencell surface glycoprotein Trop-1epithelial glycoprotein 314human epithelial glycoprotein-2major gastrointestinal tumor-associated protein GA733-2membrane component, chromosome 4, surf | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000256001, ENST00000377776, ENST00000397282, ENST00000488782, ENST00000537264, | ||
Fusion gene scores | * DoF score | 6 X 4 X 4=96 | 6 X 10 X 5=300 |
# samples | 6 | 10 | |
** MAII score | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/300*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACTR3B [Title/Abstract] AND EPCAM [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACTR3B(152650526)-EPCAM(47606120), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | EPCAM | GO:0008284 | positive regulation of cell proliferation | 15195135 |
Tgene | EPCAM | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15195135|15922867 |
Tgene | EPCAM | GO:2000048 | negative regulation of cell-cell adhesion mediated by cadherin | 9382878 |
![]() * 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 ACTR3B-EPCAM |
![]() * 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 |
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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 ACTR3B-EPCAM |
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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 ACTR3B-EPCAM |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:152650526/:47606120) - 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 |
. | . |
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: 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}. |
![]() * 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 ACTR3B-EPCAM |
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Fusion Gene PPI Analysis for ACTR3B-EPCAM |
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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 ACTR3B-EPCAM |
![]() (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 ACTR3B-EPCAM |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C2750471 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 | 7 | CLINGEN;CTD_human;GENOMICS_ENGLAND | |
Tgene | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 3 | CTD_human;ORPHANET | |
Tgene | C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 2 | ORPHANET | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C2931459 | Lynch syndrome I (site-specific colonic cancer) | 1 | CTD_human | |
Tgene | C4552100 | Lynch Syndrome | 1 | CTD_human;GENOMICS_ENGLAND |