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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:ACTB-EML2 (FusionGDB2 ID:HG60TG24139) |
Fusion Gene Summary for ACTB-EML2 |
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Fusion gene information | Fusion gene name: ACTB-EML2 | Fusion gene ID: hg60tg24139 | Hgene | Tgene | Gene symbol | ACTB | EML2 | Gene ID | 60 | 24139 |
Gene name | actin beta | EMAP like 2 | |
Synonyms | BRWS1|PS1TP5BP1 | ELP70|EMAP-2|EMAP2 | |
Cytomap | ('ACTB')('EML2') 7p22.1 | 19q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | echinoderm microtubule-associated protein-like 2echinoderm MT-associated protein (EMAP)-like protein 70echinoderm microtubule associated protein like 2microtubule-associated protein like echinoderm EMAP | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | P60709 | . | |
Ensembl transtripts involved in fusion gene | ENST00000331789, ENST00000464611, | ||
Fusion gene scores | * DoF score | 68 X 54 X 18=66096 | 9 X 8 X 6=432 |
# samples | 83 | 10 | |
** MAII score | log2(83/66096*10)=-6.31530781862183 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/432*10)=-2.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACTB [Title/Abstract] AND EML2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACTB(5567034)-EML2(46142669), # 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 |
Hgene | ACTB | GO:0098974 | postsynaptic actin cytoskeleton organization | 18341992 |
Tgene | EML2 | GO:0010968 | regulation of microtubule nucleation | 11694528 |
Tgene | EML2 | GO:0031115 | negative regulation of microtubule polymerization | 11694528 |
![]() * 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 | LUAD | TCGA-49-6761-01A | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
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Fusion Gene ORF analysis for ACTB-EML2 |
![]() * 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-5UTR | ENST00000331789 | ENST00000245925 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-5UTR | ENST00000464611 | ENST00000245925 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000331789 | ENST00000536630 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000331789 | ENST00000586902 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000331789 | ENST00000587152 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000331789 | ENST00000589876 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000464611 | ENST00000536630 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000464611 | ENST00000586902 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000464611 | ENST00000587152 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
intron-intron | ENST00000464611 | ENST00000589876 | ACTB | chr7 | 5567034 | - | EML2 | chr19 | 46142669 | - |
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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 ACTB-EML2 |
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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 ACTB-EML2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:5567034/:46142669) - 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 |
ACTB | . |
FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}. | 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 ACTB-EML2 |
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Fusion Gene PPI Analysis for ACTB-EML2 |
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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 ACTB-EML2 |
![]() (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 ACTB-EML2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTB | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ACTB | C1846331 | Juvenile-onset dystonia | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ACTB | C1853623 | Fryns-Aftimos Syndrome | 2 | GENOMICS_ENGLAND |
Hgene | ACTB | C2239176 | Liver carcinoma | 2 | CTD_human |
Hgene | ACTB | C0003129 | Anoxemia | 1 | CTD_human |
Hgene | ACTB | C0003130 | Anoxia | 1 | CTD_human |
Hgene | ACTB | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | ACTB | C0005818 | Blood Platelet Disorders | 1 | GENOMICS_ENGLAND |
Hgene | ACTB | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | ACTB | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
Hgene | ACTB | C0013393 | Dysostoses | 1 | CTD_human |
Hgene | ACTB | C0013421 | Dystonia | 1 | CTD_human |
Hgene | ACTB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Hgene | ACTB | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human |
Hgene | ACTB | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | ACTB | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | ACTB | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | ACTB | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | ACTB | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Hgene | ACTB | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ACTB | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Hgene | ACTB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | ACTB | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | ACTB | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | ACTB | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | ACTB | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | ACTB | C0242184 | Hypoxia | 1 | CTD_human |
Hgene | ACTB | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | ACTB | C0263579 | Pigmented hairy epidermal nevus | 1 | ORPHANET |
Hgene | ACTB | C0265541 | Cranioschisis | 1 | CTD_human |
Hgene | ACTB | C0272183 | Qualitative abnormality of granulocyte | 1 | GENOMICS_ENGLAND |
Hgene | ACTB | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | ACTB | C0393588 | Dystonia, Paroxysmal | 1 | CTD_human |
Hgene | ACTB | C0393610 | Dystonia, Diurnal | 1 | CTD_human |
Hgene | ACTB | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Hgene | ACTB | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
Hgene | ACTB | C0700292 | Hypoxemia | 1 | CTD_human |
Hgene | ACTB | C0751093 | Dystonia, Limb | 1 | CTD_human |
Hgene | ACTB | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | ACTB | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | ACTB | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | ACTB | C1691779 | Sensory hearing loss | 1 | CTD_human |
Hgene | ACTB | C1858042 | Becker Nevus Syndrome | 1 | ORPHANET |
Hgene | ACTB | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | ACTB | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | ACTB | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | ACTB | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |