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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-RNF216 (FusionGDB2 ID:HG60TG54476) |
Fusion Gene Summary for ACTB-RNF216 |
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Fusion gene information | Fusion gene name: ACTB-RNF216 | Fusion gene ID: hg60tg54476 | Hgene | Tgene | Gene symbol | ACTB | RNF216 | Gene ID | 60 | 54476 |
Gene name | actin beta | ring finger protein 216 | |
Synonyms | BRWS1|PS1TP5BP1 | CAHH|TRIAD3|U7I1|UBCE7IP1|ZIN | |
Cytomap | ('ACTB')('RNF216') 7p22.1 | 7p22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | E3 ubiquitin-protein ligase RNF216RING-type E3 ubiquitin transferase RNF216triad domain-containing protein 3ubiquitin-conjugating enzyme 7-interacting protein 1zinc finger protein inhibiting NF-kappa-B | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | P60709 | Q9NWF9 | |
Ensembl transtripts involved in fusion gene | ENST00000331789, ENST00000464611, | ||
Fusion gene scores | * DoF score | 68 X 54 X 18=66096 | 17 X 18 X 11=3366 |
# samples | 83 | 33 | |
** MAII score | log2(83/66096*10)=-6.31530781862183 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(33/3366*10)=-3.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACTB [Title/Abstract] AND RNF216 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACTB(5570155)-RNF216(5756397), # samples:3 | ||
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 | RNF216 | GO:0032648 | regulation of interferon-beta production | 19893624 |
Tgene | RNF216 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 19893624 |
Tgene | RNF216 | GO:0050691 | regulation of defense response to virus by host | 19893624 |
Tgene | RNF216 | GO:0070936 | protein K48-linked ubiquitination | 19893624 |
![]() * 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-BH-A18T-01A | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
ChimerDB4 | BRCA | TCGA-BH-A18T | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
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Fusion Gene ORF analysis for ACTB-RNF216 |
![]() * 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 |
5UTR-3CDS | ENST00000331789 | ENST00000389902 | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
5UTR-3CDS | ENST00000331789 | ENST00000389902 | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
5UTR-3CDS | ENST00000331789 | ENST00000425013 | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
5UTR-3CDS | ENST00000331789 | ENST00000425013 | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
5UTR-intron | ENST00000331789 | ENST00000469375 | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
5UTR-intron | ENST00000331789 | ENST00000469375 | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
intron-3CDS | ENST00000464611 | ENST00000389902 | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
intron-3CDS | ENST00000464611 | ENST00000389902 | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
intron-3CDS | ENST00000464611 | ENST00000425013 | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
intron-3CDS | ENST00000464611 | ENST00000425013 | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
intron-intron | ENST00000464611 | ENST00000469375 | ACTB | chr7 | 5570155 | - | RNF216 | chr7 | 5756397 | - |
intron-intron | ENST00000464611 | ENST00000469375 | ACTB | chr7 | 5570154 | - | RNF216 | chr7 | 5756397 | - |
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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-RNF216 |
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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-RNF216 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:5570155/:5756397) - 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 | RNF216 |
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: Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis. {ECO:0000269|PubMed:15107846, ECO:0000269|PubMed:19893624}. |
![]() * 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-RNF216 |
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Fusion Gene PPI Analysis for ACTB-RNF216 |
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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-RNF216 |
![]() (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-RNF216 |
![]() (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 |
Tgene | C1859305 | Cerebellar Ataxia and Hypogonadotropic Hypogonadism | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |